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Dissertations / Theses on the topic 'Clinical endocrinology'
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El, Sanadi Caroline Elizabeth. "DEVELOPMENT AND VALIDATION OF CLINICAL PREDICTION TOOLS FOR AIDING IN SELECTION OF 2ND LINE THERAPIES ADDED TO METFORMIN IN TREATMENT OF TYPE 2 DIABETES." Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case1607604907339227.
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Martins, Dinorah Fernandes Gioia. "Obesidade: Estudo das Representações Sociais de Endocrinologistas em Hospital Público." Universidade de São Paulo, 1998. http://www.teses.usp.br/teses/disponiveis/47/47133/tde-30112012-113617/.
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O presente trabalho teve como objetivo estudar a psicodinâmica das Representações Sociais (RS) de endocrinologistas de hospital público sobre obesidade, identificando-as e buscando detectar seu inconsciente relativo, ou seja, a lógica emocional segundo a qual se estruturam. Foram realizadas 10 (dez) entrevistas com médicos endocrinologistas de rede pública, (05 do sexo feminino e 05 do sexo masculino) com idade variável de 28 a 44 anos de idade. O tempo de especialização variou de dois a dezoito anos. As entrevistas foram semi-estruturadas, no sentido de haver uma pré-estrutura mínima, permitindo ao entrevistado espontaneidade e fluência de expressão. Usou-se técnicas encobertas, com perguntas gerais e abrangentes. Desejou-se que o tema - obesidade - surgisse espontaneamente. O tratamento dos dados foi de acordo com o referencial psicodinâmico, numa abordagem qualitativa. Conclui-se que o médico é o intérprete das ideologias socialmente circulantes a respeito da obesidade. Suas condutas são pautadas pelas características de personalidade, pelas informações científicas, e pela influência midiáticaNot informed by the author
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Preda, Veronica Angela. "Clinical & Genetic Characteristics of Sellar Masses Including Pituitary Adenomas and Craniopharyngiomas." Thesis, The University of Sydney, 2016. http://hdl.handle.net/2123/15701.
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There are numerous tumours arising in the sellar region. This thesis focuses on two distinct entities, pituitary adenomas and craniopharyngiomas. The biology of both these tumours is incompletely understood. The studies performed in this thesis aim to identify specific molecular genetic lesions in pituitary adenomas and craniopharyngiomas. More broadly it explores tumorigenesis pathways in general to correlate these with the behaviour of pituitary adenomas and craniopharyngiomas. Important genetic mutations have been described in pituitary adenomas. These discoveries have resulted in interest focusing on the mechanism of tumorigenesis based on the adenoma subtype formation and the prediction of the clinical behaviour. This thesis focuses on a number of genetic mutations, which can have significant clinical consequence, including AIP gene mutations and MEN-1. We also have yet to fully understand, through exploring with the assistance of new techniques of genome-wide analysis, the genetic mutations responsible in distinct clinical cases, such as twins of consanginous parents, with pituitary adenomas and puerperal alactogenesis. Craniopharyngiomas are rare sellar masses, of two distinct subtypes, which are at times difficult to clinically and histopathologically delineate. Herein we characterise craniopharyngiomas more completely in order to understand and describe their distinct features of the papillary and adamantinomatous variants. In addition this thesis uses craniopharyngiomas as a platform to explore common tumour pathways to understand their formation but also to contribute to our knowledge across neoplasia subtypes. This thesis has already contributed to the medical and scientific literature with a number of new discoveries, broadly in three main areas. Firstly, in pituitary adenomas it has clinically characterised one of the largest single centre cohort of adult sporadic adenomas occurring at a young age of < 40 years and specifically looked at their AIP mutation rates. This has bench-to-bedside implications to suggest screening of young patients with sporadic pituitary adenomas, particularly of the growth hormone or prolactin secreting variants and the importance of long-term follow-up rather than discharge from clinic. In the specific clinical setting of suspected MEN-1 syndrome, this thesis presents a malignant peripheral nerve sheath tumour (MPNST) not previously described in association with this cancer syndrome. We use our experience to describe assessment and monitoring of this tumour. This case suggests that clinical investigation is warranted in all other MEN-1 cases with consideration for a possible association with MPNST. Secondly, in craniopharyngiomas this thesis carefully characterises how to immunohistochemically and genetically distinguish the adamantinomatous (aCP) and papillary (pCP) subtypes. This thesis characterises the other interacting partners of the adherens junction, which previously have not been published in the literature. No disruption of the β-catenin binding partners were found; suggesting that loss of junction integrity is not associated with characteristic β-catenin translocation, as had previously been suggested in other masses of the sellar region and specifically in pituitary adenomas. We describe distinct tumour cascades responsible for contributing to tumour growth, the Wnt pathway via β-catenin in aCPs and the MAPKinase pathway via BRAF in pCP. However, there appears to be some overlap in distinct case examples. This could be explained by our suggestion of an evolutionary continuum of these tumours, consistent with their ectodermal derivation, explaining the novel finding of CTNNB1 mutations in a sub-cohort of pCPs. This contribution to tumorigenesis and thesis findings will potentially enable targeted pharmacotherapies to β-catenin and BRAF, the latter used in treating other endocrine malignancies such as thyroid cancer. Thirdly, this thesis sets the foundation for considering the role of telomerase and transcriptional regulators of stem cell-ness, such as KLF-4 in sellar masses. It has contributed to elucidating craniopharyngioma tumorigenesis by describing novel mutations in the TERT promoter region as well as novel mutations in their binding partner sites, such as KLF-4, which appears to play an integral role in craniopharyngioma tumorigenesis.
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Claes, Anthony N. J. "ANTI-MÜLLERIAN HORMONE IN STALLIONS AND MARES: PHYSIOLOGICAL VARIATIONS, CLINICAL APPLICATIONS, AND MOLECULAR ASPECTS." UKnowledge, 2014. http://uknowledge.uky.edu/gluck_etds/18.
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Anti-Müllerian hormone (AMH) is a homodimeric glycoprotein that is best known for its role in regression of the Müllerian duct in the male fetus. Accumulating evidence indicates that AMH also has an important role during different physiological processes after birth. In contrast to other species, relatively little is known about AMH in the horse. In chapter one, developmental and seasonal changes in serum AMH concentrations in male horses were determined, and the use of AMH for determination of retained cryptorchid testes was established. In chapter two, the interrelationship between plasma AMH concentrations, antral follicle counts (AFC), and age in mares was evaluated. Molecular and hormonal changes in the equine follicle with regard to variations in antral follicle count and follicular development were examined in chapter three. In chapter four, the effect of AFC on age-related changes in follicular parameters in light-type horse mares was examined. Peripheral AMH concentrations were significantly higher in prepubertal colts than in postpubertal stallions and varied with season in mature stallions with higher concentrations during the physiological breeding season. Furthermore, serum AMH concentrations were significantly higher in cryptorchid stallions compared to intact stallions or geldings. Circulating AMH concentrations varied widely amongst mares of the same age while the repeatability of AMH was high within and between estrous cycles. More importantly, AMH concentrations were positively associated with AFC, and this relationship increased with mare age. In addition, variations in AMH concentrations or AFC were associated with molecular differences in granulosa cells of growing follicles, and the expression of AMH and genes co-expressed with AMH in the equine follicle as well as intrafollicular AMH concentrations decreased during follicular development. Finally, the inter-ovulatory interval and length of the follicular phase is increased in aged mares with low AFC. In conclusion, AMH is a useful biomarker for cryptorchidism in stallions and ovarian reserve in mares. Furthermore, follicular function was interrelated to AFC or AMH based upon molecular differences in growing follicles, while age-related changes in follicular parameters are linked to differences in AFC.
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Alimohammadi, Mohammad. "Molecular Targets in Autoimmune Polyendocrine Syndrome Type1 and Their Clinical Implications." Doctoral thesis, Uppsala universitet, Institutionen för medicinska vetenskaper, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9549.
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Autoimmune diseases occur when the immune system attacks and destroys healthy body tissue. Autoimmunity is known to cause a wide range of disorders, and is suspected to be responsible for many more. Most autoimmune disorders are chronic and cause severe morbidity for the patients, and are also costly for society. A majority of these disorders are today considered as complex diseases with incompletely known etiology. Hence, model systems for studying the pathogenesis of autoimmunity are important to unravel its causes. Autoimmune Polyendocrine Syndrome Type 1 (APS-1), (OMIM 240300), is a rare autoimmune disorder. Patients with APS-1 progressively develop multiple organ-specific autoimmune lesions involving both endocrine and non endocrine tissues. Typical autoimmune disease components in APS-1 are hypoparathyroidism, Addison’s disease, vitiligo, alopecia and type 1 diabetes. The gene preventing APS-1 has been identified and designated Autoimmune Regulator (AIRE). It has been shown that mutations of AIRE cause loss of tolerance to self-structures, resulting in organ-specific autoimmunity. Although APS-1 is a rare syndrome occurring mainly in genetically isolated populations, the disease components of APS-1 are, in isolated forms, not unusual in the general population and affect many patients. Hence, APS-1 is an attractive model disease for studies of molecular mechanisms underlying organ-specific autoimmunity. This thesis concerns investigations in which two novel autoantigens are identified in APS-1 and used in serological diagnosis of the disease. NALP5, is identified as a parathyroid autoantigen - an important finding since autoimmune hypoparathyroidism is one of the cardinal symptoms of APS-1. Additionally, KCNRG is identified as a bronchial autoantigen in APS-1 patients with respiratory symptoms. Finally, studies that compare the immune response in APS-1 patients and the mouse model for APS-1 are presented.
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Mughal, Saima Amin. "The clinical and genetic characterisation of young-onset diabetes." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:ba1ddd3f-a96c-4cc5-9298-24aeee4efda1.
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Maturity-onset diabetes of the young (MODY), due to hepatocyte nuclear factor 1 alpha mutations (HNF1A-MODY), is the most common form of monogenic diabetes presenting in young adults. An accurate genetic diagnosis of HNF1A-MODY has therapeutic implications for the patients and their family members. However, the majority of people with HNF1A-MODY are not referred for genetic testing and remain misdiagnosed as type 1 or type 2 diabetes. As part of measures to address this misdiagnosis, over the last few years there have been efforts to define clinical features and biomarkers that can be used to identify those at high risk of HNF1A-MODY. Secreted hepatic proteins regulated by HNF1A are attractive candidates for diagnostic biomarkers that would be specific for this form of diabetes. Apolipoprotein M (apoM), C-reactive protein (CRP) and plasma glycan profile have all been investigated as biomarkers to improve selection of suspected MODY cases for genetic testing. In my thesis, I have addressed questions about the variation in apoM between different forms of diabetes and assessed the performance of hsCRP and plasma glycan profile to identify HNF1A-MODY in previously uninvestigated individuals with young-onset diabetes and in a non-European population. Additionally because CRP and plasma glycans are both important components of an acute inflammatory response, I examined the effect of haploinsufficiency of HNF1A in a standardised model of inflammation. When investigating apoM, I showed that serum apoM levels are lower in HNF1A-MODY than controls, and have demonstrated for the first time that serum apoM provides good discrimination between HNF1A-MODY and type 1 diabetes. CRP and plasma glycan profile both performed well in identifying HNF1A-MODY cases in unselected young adults with diabetes. The results also suggested that both biomarkers have value for assessing the functional impact of novel HNF1A variants. I went on to examine the use of a low CRP for selecting those at risk of HNF1A-MODY in South Asian subjects with young-onset diabetes. This study suggests that the overall population prevalence of HNF1A-MODY is similar in South Asians to Europeans, but that MODY represents a lower proportion of those with diabetes (due to the higher prevalence of type 2 diabetes in South Asians). The specific selection strategy employed in this study was not successful in identifying subjects at high risk of HNF1A-MODY (only 3% of those sequenced had mutations), suggesting that additional clinical and biochemical features will be required in addition to CRP to distinguish South Asians at high risk of HNF1A-MODY. Lastly, using endotoxaemia as a standardised model of acute inflammation for the first time in HNF1A-MODY, I have shown that despite low baseline levels, subjects with HNF1A-MODY had peak stimulated CRP levels comparable to non-diabetic controls. An attenuated cytokine response was observed in HNF1A-MODY, which requires further investigation. This is also the first report of inflammation-associated changes in plasma and white cell membrane glycan profile in diabetes. This research work adds substantially to current understanding of performance of HNF1A-MODY biomarkers, a critical step before their clinical translation. The work presented also provides novel insights into the regulation of the acute inflammatory response in HNF1A-MODY.
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Ramsumeer, Soy. "A Plan for the Implementation and Evaluation of Diet Education in Type 2 Diabetes." ScholarWorks, 2016. https://scholarworks.waldenu.edu/dissertations/1920.
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Abstract
Type 2 Diabetes Mellitus (T2DM) is the seventh leading cause of death in the United States with a projected increase of 552 million people worldwide who will be affected with this illness by 2030. The need to address this issue is vital to prevent complications and reduce healthcare spending. The DNP project is aimed at planning and designing a nutritional education program tailored toward specific ethnic groups in order to increase knowledge in making healthy food choices. This project is intended to educate Registered Nurses (RNs) on nutrition so that they can offer dietary knowledge to T2DM patients. Additional patients can be reached by educating the RNs rather than patients being limited to consultations with a Certified Diabetes Educator or Registered Dietician. This project focused on whether healthy nutrition tailored toward the individual's own ethnic foods helps to stabilize glycemic values for patients with Type 2 diabetes. A toolkit was utilized to aid with the RNs' learning on healthy nutrition and its impact on the management of blood glucose. It addressed areas such as food groups and calories, grocery shopping, preparation methods, and portion control. The framework for design utilized the basic concepts associated with the systems theory with an intended goal to prevent further complications and improve patients' glycemic value through consuming nutritious foods. The logic model will be used to evaluate the impact of healthy nutrition on blood glucose through pre- and post-program tests of the RNs' nutritional knowledge on healthy eating. The continuation of this program will promote positive social change by helping patients to achieve a healthier lifestyle and reduce healthcare expenditures.
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Marsh, Wendy K. "Clinical Course of Bipolar Disorder During the Menopausal Transition: Comparison with Reproductive Age and Post Menopausal Women: A Master's Thesis." eScholarship@UMMS, 2010. https://escholarship.umassmed.edu/gsbs_diss/517.
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Introduction: The late menopausal transition is a time of increased risk of depression in the general population. Nonetheless, mood course during the late menopausal transition in women with bipolar disorder in relatively unknown.
Methods: Mood state data in 519 reproductive age women (5989 clinic visits), 116 late menopausal transition (perimenopausal) women (2046 visits), and 133 postmenopausal women (1,437 visits) with bipolar disorder who were receiving optimized naturalistic treatment in the multisite STEP-BD study over an average of 19.8±15.5 months were analyzed for proportion of clinic visits with syndromal depression, mood elevation and euthymia between the three groups. History of postpartum and perimenstrual mood exacerbation as well as hormone therapy use were evaluated as potential predictors of mood.
Results: No significant difference in the proportion of clinic visits with syndromal depression was found between reproductive age (18.1%), perimenopausal (18.1%) and postmenopausal (19.3%) women. Reproductive age women had significantly greater proportion of visits with syndromal mood elevation (5.3%) compared to perimenopausal (4.1%, Z=2.1, p2(3, N = 9960) = 19.8, p
Conclusions: While proportion of clinic visits with syndromal depression did not differ among the three reproductive groups, thirteen women who had recorded transition from perimenopause to postmenopause showed significantly greater depression than reproductive age, perimenopausal or postmenopausal women. Proportion of visits with euthymia or with syndromal mood elevation decreased from reproductive age to perimenopausal to postmenopausal women. Reported history of mood exacerbation during times of hormonal fluctuation, or current use of hormone therapy, was not significantly associated with depression during the perimenopause. Limitations include women excluded due to absence of menstrual data. Future studies should include hormonal assessments.
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Beer, Nicola L. "The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits." Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:87f8ea0d-9528-49fd-8f01-5f976cf9f210.
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The rising prevalence of type 2 diabetes (T2D) is a global problem, and suggests that we need better therapeutic strategies against this disease. The glycolytic enzyme glucokinase (GCK) catalyses the phosphorylation of glucose, and is a well-established T2D drug target. Rare GCK mutations cause monogenic beta-cell dysfunction, whilst common genetic variants within GCK are associated with fasting plasma glucose (FPG) levels and T2D risk. Since GCK is expressed in both the pancreas and liver, pharmacological GCK activation provides the promise of a two-pronged attack on hyperglycaemia. In vivo, GCK activity is modulated by the hepatic inhibitor glucokinase regulatory protein (GKRP, gene GCKR). GKRP negatively regulates GCK activity competitively with respect to glucose, and is controlled by fructose 6- and fructose 1-phosphate (F6P and F1P), which compete with each other for binding and enhance or diminish GCK inhibition respectively. GKRP also sequesters GCK in the nucleus and paradoxically stabilises the enzyme. As GCK and its regulatory protein are fundamental to glucose homeostasis, we aimed to investigate the role of genetic variation in both GCK and GCKR to further our understanding of these important T2D drug targets in a system that would be relevant to man. I demonstrated that two novel GCK mutations (T103S and V389L) identified in patients with hyperinsulinaemic hypoglycaemia were kinetically activating and through structural modelling identified a novel regulatory site for GCK activation by small molecular activators. Genome-wide association studies (GWAS) identified GCKR as a regulator of FPG and triglyceride levels, and showed a role for GKRP in T2D risk. Unlike most GWAS hits, this signal included a non-synonymous variant within GCKR (P446L), thus facilitating functional studies. P446L-GKRP was characterised kinetically and at the cellular sequestration-level. This variant showed diminished F6P-mediated modulation, which was proposed to reduce hepatic GCK inhibition, increase glycolytic flux (decreasing FPG), and feed metabolites into liver pathways (elevating triglycerides). As GCKR was not expressed at functional levels within human islets, this phenotype was thought to be driven by the liver. Preliminary analysis at the cellular level was inconclusive, with optimisation required to study human P446L-GKRP in this cellular system. Finally, I showed that mutations within GCKR are not a common cause of “GCK-Like” phenotypes in man, despite the regulatory protein directly modulating GCK activity. These data provide further insight as to the pathogenic consequences of perturbing GCK activity. This must be considered if this enzyme is to be the subject of therapeutic intervention in T2D.
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Osama, Mohammad. "Function of Vascular Endothelial Cells in Aging and Hypothermia: Clinical Implications." Ohio University / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ohiou1534939514503588.
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Cañas, Ortiz Francesca. "Comunidades virtuales de gestión del conocimiento en salud. El proyecto EndoBlocLleida." Doctoral thesis, Universitat de Lleida, 2013. http://hdl.handle.net/10803/123771.
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Aquesta tesi té un objectiu de doble naturalesa. Per un cantó, acotar i definir el concepte de comunitat de pràctica clínica
i, per altre, identificar aquells elements de disseny metodològic i de gestió interna que facilitin el bon funcionament d'aquest tipus
de comunitats entre professionals de la salut, a partir d'un cas d'èxit. És per això que la tesi s'estructura de la següent forma: en
primer lloc, i desprès de la revisió de la literatura especialitzada, es realitza una aproximació a la teoria de les comunitats de
pràctica i a la gestió del coneixement, situant-la en el marc de la nova societat xarxa en la que ens trobem immersos.
En segon lloc, s'analitza el disseny de la comunitat de pràctica clínica EndoBlocLleida, projecte al voltant del qual gira
aquesta tesi, per a seguidament endinsar-se en l'anàlisi detallat de la seva estructura, els criteris d'avaluació i els factors d'èxit.
Però, a més a més de l'anterior, aquesta tesi intenta ser la prova dels beneficis del treball interdisciplinari que preconitza el
sistema de comunitats de pràctica, donat que ha estat portada a terme per una especialista en Societat de la Informació i el
Coneixement, que prèviament havia obtingut una llicenciatura en Humanitats, durant la qual es va especialitzar en Sociologia i
Filosofia. Tot el que s'ha après en els esmentats estudis ha confluït en el treball de disseny, implementació i gestió
d'EndoBlocLleida i ha donat com a resultat aquesta memòria, que contempla des de la perspectiva de l'aplicació de les
tecnologies de la informació i el coneixement, la problemàtica que li planteja actualment la gestió d'aquest darrer als
professionals de la salut. Una de les característiques que la diferencien de les memòries que es presenten usualment a les facultats de Medicina, és que l'apartat de discussió s'ha exclòs com a tal, seguint la estructura habitual en les tesis de disciplines humanístiques, en
les quals es realitza la discussió dels resultats juntament amb la presentació dels mateixos. La tesi conclou apuntant algunes línies futures
d'investigació que fan referència als beneficis tangibles que poden aportar les comunitats virtuals de pràctica clínica a les organitzacions sanitàries. No és de cap manera una tesi a l'ús, donat que ha estat dirigida per un professional de la medicina, desenvolupant-se la
part pràctica del projecte (EndoBlocLleida) en estreta comunió amb professionals de la salut. L'anàlisi que aquí s'exposa creiem
que es beneficia de les diferents disciplines que en ell han revertit.Esta tesis tiene un objetivo de doble naturaleza. Por un lado, acotar y definir el concepto de comunidad de práctica clínica y, por otro, identificar aquellos elementos de diseño metodológico y de gestión interna que facilitan el buen funcionamiento de este tipo de comunidades entre profesionales de la salud, a partir de un caso de éxito. Para ello, la tesis se estructura del siguiente modo: en primer lugar, y tras la revisión de la literatura especializada, se realiza una aproximación a la teoría de las comunidades de práctica y a la gestión del conocimiento, situándola en el marco de la nueva sociedad red en la que nos encontramos inmersos. En segundo lugar, se analiza el diseño de la comunidad de práctica clínica EndoBlocLleida, proyecto alrededor del cual gira esta tesis, para seguidamente adentrarse en el análisis detallado de su estructura, los criterios de evaluación y los factores de éxito. Pero, además de lo anterior, esta tesis intenta ser la prueba fehaciente de los beneficios del trabajo interdisciplinar que preconiza el sistema de comunidades de práctica, dado que ha sido llevada a cabo por una especialista en Sociedad de la Información y el Conocimiento, que previamente había obtenido una licenciatura en Humanidades, donde se especializó en Sociología y Filosofía. Todo lo aprendido en dichos estudios ha confluido en el trabajo de diseño, implementación y gestión de EndoBlocLleida y ha dado como resultado esta memoria, que contempla desde la perspectiva de la aplicación de las tecnologías de la información y el conocimiento, la problemática que le plantea actualmente la gestión de este último a los profesionales de la salud. Una de las características que la diferencian de las memorias que se presentan usualmente en las facultades de Medicina, es que el apartado de discusión se ha excluido como tal, siguiéndose la estructura habitual en las tesis de disciplinas humanísticas, en las cuales se realiza la discusión de los resultados juntamente con la presentación de los mismos. La tesis concluye apuntando algunas líneas futuras de investigación que hacen referencia a los beneficios tangibles que pueden aportar las comunidades virtuales de práctica clínica a las organizaciones sanitarias. No es en modo alguno una tesis al uso, ya que ha sido dirigida por un profesional de la medicina, desarrollándose la parte práctica del proyecto (EndoBlocLleida) en estrecha comunión con profesionales de la salud. El análisis que aquí se expone creemos que se beneficia de las distintas disciplinas que en él han revertido.
This thesis has a double natured goal. On the one hand, to enclose and establish the concept of community of clinical practice and, on the other, to identify those elements of methodological design and internal management that provide the proper functioning for this kind of communities among health professionals, based on a successful case. For that purpose, the thesis is structured as follows: in the first place, and after reviewing specialized literature, we will make an approach to the theory of the communities of practice and the knowledge management, placing it in the frame of the new network society in which we are immerse. Secondly, we will analyze the design of the community of clinical practice EndoBlocLleida, the project which this thesis mainly deals with. Then, a thorough analysis of structure, evaluation criteria and success factors will follow. Besides, as it has been written by a specialist in Information and Knowledge Society, who previously obtained a degree in Humanities, and specialized in Sociology and Philosophy, this thesis intends to be the living proof of the benefits of interdisciplinary work that advocates for the community of practice system. The previous learning has converged on the design, implementation and management of EndoBlocLleida, and it has resulted in this report, considering the current health professional's difficulties in managing knowledge from an information and knowledge technologies perspective. One of the features that differ from the reports commonly presented at the Faculties of Medicine, is that the discussion section has been excluded as such, following a structure more likely to be found in thesis of humanistic disciplines, where the presentation and discussion of results occur at the same time. The thesis concludes pointing out some future research lines that refer to the tangible benefits that virtual communities of clinical practice can provide to the health care organizations. This is by no means a customary thesis, as it has been directed by a physician, and the practical part of the project (EndoBlocLleida) has been developed in close collaboration with health professionals. We believe that the analysis presented here benefits from the many disciplines that have reverted to it.
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Fessehaye, Selam. "Evaluation of the feasibility of intralymphatic injection of Diamyd®." Thesis, Uppsala universitet, Institutionen för neurovetenskap, 2019. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-389630.
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Type 1 diabetes affects a person’s life on many levels in terms of quality of life, health, and socioeconomic costs both for the patients but also their families. As of now there is no therapy that targets the underlying mechanism of the disease. Intralymphatic administration of Diamyd® is being evaluated in a phase IIb clinical trial, DIAGNODE-2. The aim was to examine if the intralymphatic administration is feasible for both patients and medical professionals, and to identify any aspects of the procedure that can be improved. This feasibility study is based on interviews and answers received from questionnaires. The medical professionals that were selected were radiologists and study nurses that are involved in the DIAGNODE-2 trial. The radiologists were the prime focus and were thus interviewed through face-to-face/skype or phone and answered a questionnaire. Study nurses, having more contact with the patient, answered a survey in order to gain additional insights into the patient perspective. The results show that the radiologists has a positive view towards the administration procedure, which was described as easy and safe. According to the study nurses the patients accept the procedure and they agreed that the patients understand the injection procedure once they received the information. In terms of the emotional state of the patients they were a bit nervous, but they became calmer after receiving the first injection. Based on the above-mentioned findings the intralymphatic injection procedure is described as feasible and has the potential to become a part of the standard clinical routine.
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Eisenlohr-Moul, Tory A. "Expression of Borderline Personality Disorder Symptoms across the Ovulatory Cycle: A Multilevel Investigation." UKnowledge, 2013. http://uknowledge.uky.edu/psychology_etds/24.
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Borderline Personality Disorder (BPD) is a disabling condition characterized by chronic emotion dysregulation and behavioral impulsivity. Prospective studies that test proposed mechanisms of within-person change in BPD hold the key to improving symptom predictability and control in this disorder. A small body of evidence suggests that fluctuations in estradiol such as those occurring naturally at ovulation during the monthly female reproductive cycle may increase symptoms in women with BPD (DeSoto et al., 2003). Furthermore, there is preliminary evidence that both self-esteem and feelings of social rejection are highest at ovulation, when estradiol peaks (Durante and Hill, 2009; Eisenlohr-Moul et al., under review). Such feelings have been reliably linked to increases in BPD-related behavior in all individuals (e.g., Twenge et al., 2002). The purpose of this dissertation was to test a cyclical vulnerability model for women with BPD in which ovulatory estradiol shifts are associated with reductions in felt social acceptance, which in turn are associated with increased BPD symptom expression. 40 women, sampled to achieve a flat distribution of BPD symptoms, completed 28 daily diaries online, as well as four 1-hour weekly visits to the laboratory to complete longer assessments and provide saliva samples, which were assayed for estradiol. In addition, participants underwent the Structured Clinical Interview for the Diagnosis of BPD at the end of the study.
Results of multilevel models revealed the opposite of the predicted effects of within-person changes in estradiol and their interaction with trait BPD. The data suggest a pattern in which women high in trait BPD show increases in felt acceptance and reductions in BPD symptom expression at higher levels of conception probability and higher-than-usual levels of estradiol. Women low in trait BPD show the opposite pattern in some cases. Several alternative moderators were tested, and results suggest that some risk factors for BPD (e.g., Neuroticism, Sexual Abuse) interact with high trait levels of estradiol to predict greater symptoms. Both average levels of estradiol and monthly fluctuations in estradiol may have relevance for women with BPD. It is recommended that future studies utilize clinical samples and additional physiological measures to further elucidate the mechanisms through which estradiol exerts clinically-relevant change.
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Rivera, Rodriguez Jose A. "Seniors with Diabetes-Investigation of the Impact of Semantic Auditory Distractions on the Usability of a Blood Glucose Tracking Mobile Application." NSUWorks, 2015. http://nsuworks.nova.edu/gscis_etd/64.
Full textAbstract:
Diabetes is the seventh leading cause of death in the United States. With the population rapidly aging, it is expected that 1 out of 3 Americans will have diabetes by 2050. Mobile devices and mobile applications have the potential to contribute to diabetes self-care by allowing users to manage their diabetes by keeping track of their blood glucose levels. Usability is important for systems that help people self-manage conditions such as diabetes. Age and diabetes-related cognitive decline might intensify the impact of usability issues for the users who need these mobile applications the most. As highlighted by usability researchers, the context of use (i.e. environment, user, task, and technology) has a significant impact on usability. The environment (lighting, temperature, audio and visual distractions, etc.) is of special interest to the mobile usability arena since in the case of mobile devices, is always changing.
This dissertation aims to support the claim that context and more specifically environmental distraction such as semantic auditory distractions impact the usability of mobile applications. In doing so, it attempts to answer the following research questions: 1) Does semantic auditory distractions reduce the effectiveness of a blood glucose tracking mobile application? 2) Does semantic auditory distractions reduce the efficiency of a blood glucose tracking mobile application? 3) Does semantic auditory distractions reduce the user satisfaction of a blood glucose tracking mobile application?
To answer the study research questions, a true experimental design was performed involving 30 adults with type 2 diabetes. Participants were paired based on their age and experience with smartphones and randomly assigned to the control (no semantic auditory distractions) or experimental (semantic auditory distractions) group. Research questions were tested using the general linear model. The results of this study confirmed that semantic auditory distractions have a significant effect on efficiency and effectiveness, and hence they need to be taken into account when evaluating mobile usability. This study also showed that semantic auditory distractions have no significant effect on user satisfaction.
This dissertation enhances the current knowledge about the impact of semantic auditory distractions on the usability of mobile applications within the diabetic senior population.
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CROCE, LAURA. "THE COMPLEX RELATIONSHIP BETWEEN CHRONIC INFLAMMATION AND DIFFERENTIATED THYROID CANCER: EVIDENCE FROM IN VITRO AND CLINICAL STUDIES." Doctoral thesis, Università degli studi di Pavia, 2022. http://hdl.handle.net/11571/1463185.
Full textAbstract:
Inflammation is an essential component of malignancies, including differentiated thyroid cancer (DTC). Thyroid cancer microenvironment is composed of a mixture of immune cells and soluble mediators. Among them, the chemokine CXCL8 exerts multiple pro-tumorigenic activities, including a chemotactic action on circulating neutrophils, induction of tumor cells growth, increase in angiogenesis and induction of the epithelial to mesenchymal transition, which promotes cell migration. Clinical studies in patients affected by several types of cancer evidenced that CXCL8 serum levels reflect the tumor burden and are related with the tumor aggressiveness. Solid evidence indicates that CXCL8 targeting can reduce tumor progression. The controversial relationship between inflammation and thyroid cancer tumorigenesis involves also the debated topic of the association between chronic-autoimmune-thyroiditis (CAT) and (DTC). DTCs are often diagnosed in the context of CAT and display an inflammatory-immune cells infiltration at histology, but whether the malignant transformation is promoted by the inflammatory response, or the peri-tumoral inflammation is induced by cancer-specific inflammatory molecules is still a matter of debate. This thesis project had two principal aims, i) to investigate the role of a pro-tumorigenic chemokine (CXCL8) in thyroid cancer microenvironment and to test in vitro the modulating properties of two different pharmacologic agents (PLX4720 and phenformin) and ii) to evaluate if CAT is a risk factor for the de novo development of DTC through a longitudinal population study. For Aim 1, thyroid cancer cell lines both BRAFV600E mutated (BCPAP, 8305C, 8505C) and RET/PTC rearranged (TPC-1), and normal human thyrocytes (NHT) were cultured alone or after treatment with two PLX4720 ore phenformin at increasing concentrations. CXCL8 concentrations were measured in the cell supernatants. Cell viability was evaluated through WST-1 and Annexin/propidium assay. Metastatic potential was assessed with migration assay and colony formation assay. For Aim 2, a retrospective longitudinal cohort study was designed including 510 CAT patients with a 10-years follow-up. The results of the first part of the thesis demonstrate that thyroid cancer cells secrete high amounts of CXCL8 and that both PLX4720 and phenformin are able to exert several anti-cancer activities within cancer microenvironment that are in part due to the inhibition of CXCL8 secretion. The results of the second part of the study indicate that the presence of CAT is not a risk factor for the new onset of DTC during long-term follow-up. The results of this thesis project suggest that two different kinds of inflammation (cancer-related and autoimmunity-related) exert different effects on DTC microenvironment and could have opposite effects on DTC development and prognosis.
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Tambascia, Marcos Antonio 1948. "Contribuição ao estudo da tiroidite subaguda : aspectos clinicos, laboratoriais, citologicos e imunogeneticos." [s.n.], 1992. http://repositorio.unicamp.br/jspui/handle/REPOSIP/309839.
Full textAbstract:
Orientador: João Hamilton RomaldiniTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: Embora a tiroidite subaguda tenha características bem definidas na literatura internacional existe uma relativa carência de dados disponíveis no Brasil. Para tanto esse estudo foi conduzido para descrever as características clínicas, laboratoriais, imunogenéticas e citológicas dos pacientes afetados por tiroidite subaguda atendidos pelo Serviço de Endocrinologia do Hospital das Clínicas da Universidade Estadual de Campinas. Durante os anos de 1982 a 1986 foram atendidos nesse Hospital das Clínicas 61 pacientes. Não obstante alguns casos terem sido atendidos inicialmente pelos Serviços de Urgência, todos os 61 pacientes foram acompanhados desde a fase aguda da doença até a sua resolução. Foram, inclusive, estudados 5 anos após o episódio doloroso para a análise da taxa de recidiva. Os dados de anamnese e exame físico completo foram obtidos diretamente com os pacientes. O estado funcional da tiróide foi avaliado pela medic:l dos níveis séricos de TI e T4 e pela cintilografia. Uma amostragem dos pacierites foi submetida a tipificação dos antígenos Classe II do Sistema HLA e alguns submetidos a punção aspirativa de tiróide para análise citológica. Clinicamente a doença é caracterizada por ser uma afecção febril, com dor na região cervical anterior, difusa ou localizada e podendo irradiar para ombro, ouvido ou mandíbula. Afeta particularmente mulheres adultas e jovens, de raça caucasóide. A tiróide caracteristicamente está aumentada, difusamente ou em nódulos, é extremamente dolorosa e não apresenta sinais de supuração local. Laboratorialmente, na fase aguda, encontra-se aumento da velocidade de hemos sedimentação, que se relaciona com o quadro doloroso. A imagem cintilo gráfica é ausente e em 50% dos casos é encontrado hipertiroidismo clínico e laboratorial. A tiroidite subaguda está associada indiscutivelmente com a presença do alelo B35 do Sistema HLA (83,3% dos casos). O esfref:aço cito lógico é típico, sendo encontrado células multinucleadas gigantes em cerca de 70% dos casos. O estudo permitiu definir a tiroidite subaguda como uma doença auto-limitada, evoluindo para a normalidade, mesmo nos casos com hipertiroidismo transitório.
Abstract: Internationalliterature has defined Subacute Thyroiditis characteristics but there is scare data concerning Brazilian cases. This study was carried out to describe the clinical, laboratorial, immunogenetical and cytological pattern of the patients affected by this disease followed up by the Service of Endocrinology of the Hospital das Clínicas da Universidade Estadual de Campinas. From 1982 to 1986 61 patients witli Subacute Thyroiditis underwent treatment. Most of the cases were seen initially by the emergencies services and all of them were followed up from the acute phase to the resolution by uso They were also studied 5 years after the painful period to analyse the relapse rate. The functional thyroid status was evaluated measuring the total TI and total T4 and also by scintilography. Some patients were typed to HLA Class TI antigens while others were submited to a fine needle thyroid biopsy in order to analyse the cytological aspects. The disease was characterized as a febrile affection with anterior diffuse or localized cervical pain, going on to shoulder, ears or jaws. Adult and white women are particulary affected. The thyroid was diffused or enlarged with some nodules, tender, painful and without suppuration. Scintilographic image was usually absent and half of the patients became clinically and laboratorially hyperthyroid. The cytologic smear typically showed the presence of multinucleary giant cells in about 70% of the cases. Subacute Thyroiditis was undoubtedly associated with the presence of B 35 alele in 83.3% of the cases. Oar data has allowed us to define Subacute Thyroiditis as an autolimiting disease that involves the thyroid restoration, even in cases with transitory hyperthyroidism.
Doutorado
Doutor em Medicina
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Edelstein, Sascha. "Familial association of polycystic ovary syndrome (PCOS) in women attending the gynaecological endocrinology clinic at Groote Schuur Hospital." Master's thesis, University of Cape Town, 2010. http://hdl.handle.net/11427/10437.
Full textAbstract:
Includes bibliographical references (leaves 60-65).Polycystic ovary syndrome (PCOS) is the commonest endocrinopathy in women of reproductive age, affecting 5-10% of women in the general population. Patients present with menstrual disturbances, infertility and clinical hyperandrogenism. While the pathophysiology is not completely delineated, a strong familial association has been demonstrated, suggesting a genetic component. From January 2007 until February 2009, a total of 83 probands were recruited from the Gynaecological Endocrinology Clinic (GEC) at GSH. These were all women with PCOS according to the Rotterdam criteria who presented for management at the GEC. With their consent, first degree female family members were contacted and 57 mothers, 108 sisters and 8 daughters agreed to participate in the study.
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Turchi, Federica. "Rischio cardiovascolare e alterazioni metaboliche nell'iperaldosteronismo primario: valutazione clinica e potenziale ruolo patogenetico del tessuto adiposo." Doctoral thesis, Università Politecnica delle Marche, 2012. http://hdl.handle.net/11566/242154.
Full textAbstract:
L’iperaldosteronismo primario (PA) è una patologia caratterizzata da ipertensione arteriosa e da una
serie di complicanze che coinvolgono cuore, vasi, rene e metabolismo. I meccanismi patogenetici
che sottendono la relazione tra PA e lo sviluppo delle sue complicanze non sono ancora noti e il
tessuto adiposo potrebbe avere un ruolo chiave. Lo scopo del lavoro è stato: 1) valutare il rischio
cardiovascolare (CVR) secondo le Linee Guida ESH-ESC su 102 pazienti affetti da PA alla
diagnosi e dopo terapia, confrontandolo con 132 ipertesi essenziali (EH) di pari età, sesso e durata
di malattia; 2) studiare l’espressione di geni coinvolti nel metabolismo glico-lipidico e
nell’infiammazione nel tessuto adiposo omentale di pazienti con adenoma aldosterone secernente
(APA) sottoposti a surrenectomia. Per lo studio clinico, oltre al grado di ipertensione, abbiamo
valutato l’assetto lipidico, la glicemia a digiuno e dopo carico, la circonferenza vita, la funzionalità
renale, la familiarità, il fumo, le comordità ed eseguito ecocardiogramma e ecodoppler vasi
epiaortici. Per lo studio molecolare abbiamo effettuato un'analisi microarray seguita poi da real
time-PCR su adipe di 16 pazienti con APA e di 10 pazienti con adenoma surrenalico noniperfunzionante,
per quantificare l’espressione di alcuni geni selezionati (esochinasi 1, IL-1R1, IL-
6, colesterolo-25-idrossilasi, lipoprotein lipasi, omentina, visfatina). Il CVR è risultato essere più
elevato nei PA rispetto agli EH per la presenza di più elevati valori pressori, maggiore prevalenza di
iperglicemia, sindrome metabolica, abitudine tabagica e ipertrofia ventricolare sinistra. Dopo
terapia, il CVR si è ridotto in entrambe le popolazioni ed è diventato sovrapponibile tra PA ed EH,
nonostante i PA presentassero valori di pressione arteriosa più alti, grazie ad una riduzione di alcuni
fattori di rischio ed una parziale regressione del danno d’organo. E’ stata inoltre rilevata
un’aumentata espressione del gene dell’interleuchina 6, una citochina proinfiammatoria coinvolta
nello sviluppo di insulino-resistenza e di patologie vascolari, a livello del tessuto adiposo omentale
di pazienti con APA, che potrebbe, almeno in parte, contribuire alla patogenesi della sindrome
cardiometabolica e all’elevato rischio cardiovascolare che caratterizza questi soggetti.Primary aldosteronism is an endocrine disease characterized by hypertension and several cardiovascular, renal and metabolic complications. The pathogenetic mechanisms that explain the relationship between PA and the development of such complications are still unknown but adipose tissue could play a key role. The aims of this study were: 1) to evaluate the cardiovascular risk (CVR) according to the ESH-ESC Guidelines in 102 patients with PA at diagnosis and after treatment, and compare it with the CVR of 132 patients with essential hypertension (EH) matched for age, sex and duration of hypertension, 2) to study the expression of genes involved in glucolipid metabolism and inflammation in adipose tissue of patients with aldosterone- producing adenoma (APA) who underwent adrenalectomy. For the clinical study, in addition to the grading of hypertension, we evaluated the lipid profile, fasting glucose and glucose tolerance test, waist circumference, renal function, family history, smoking habit, comorbidities and we performed echocardiographic and carotid ultrasound studies. For the molecular study we performed microarray analysis followed by real-time PCR on adipose tissue samples of 16 patients with APA and 10 patients with non-functioning adrenal adenoma, to quantify the expression of selected genes (hexokinase 1, IL- 1R1, IL-6-25-hydroxylase cholesterol, lipoprotein lipase, omentin, visfatin). The CVR was higher in PA patients than in EH for the presence of higher blood pressure values, higher prevalence of hyperglycemia, metabolic syndrome, smoking habit and left ventricular hypertrophy. After treatment, the CVR was reduced in both populations and became comparable between PA and EH, although the PA group presented higher blood pressure levels, due to the reduction of several risk factors and a partial regression of organ damage . We also found an increased gene expression of interleukin 6, a proinflammatory cytokine involved in the development of insulin resistance and vascular disease, in omental adipose tissue of patients with APA, which can be likely claimed, at least in part, as contributor to the pathogenesis of the cardiometabolic syndrome frequently observed in these subjects.
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Miyamoto, Janine Hatsumi. "Prevalência de Síndrome Metabólica em Diabetes Mellitus tipo 2 e associação com Doença Coronariana." Faculdade de Medicina de São José do Rio Preto, 2012. http://bdtd.famerp.br/handle/tede/109.
Full textAbstract:
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Previous issue date: 2012-01-25Diabetes mellitus is a group of metabolic diseases characterized by hyperglycemia resulting from insulin secretion defects, in its peripheral action, or both. Clinical manifestations of diabetes are broad and can range from asymptomatic glucose intolerance to acute complications as diabetic ketoacidosis or complications of slow evolution, such as neurological and vascular changes. Vascular changes affect virtually every body's blood vessels, large and small ones, constituting macro-and microangiopathy, respectively. The main clinical expressions of microangiopathy are diabetic nephropathy and retinopathy. The macroangiopathy is represented by early atherosclerosis, more severe and more frequent than that observed in non-diabetic population. The non-establishment or definition of a glycemic threshold in diabetic patients and the persistence of this relationship in non-diabetics suggest that glucose is a continuous variable risk, as well as other cardiovascular risk factors. The diabetic dyslipidemia is characterized by an increase in LDL small and dense particles, the reduction in HDL-cholesterol and high triglycerides levels. Diabetes or pre-diabetes, low HDL-cholesterol, high triglycerides and arterial hypertension are risk factors, when linked to central obesity, form the metabolic syndrome and 1.5-fold increase in overall mortality and 2.5 in cardiovascular mortality. Given the above, the purpose of the study was to assess the prevalence of metabolic syndrome according to the definition of the National Cholesterol Education Program Adult Treatment Panel III in patients with type 2 diabetes mellitus, its association and components with coronary disease. A total of 610 patients with type 2 diabetes mellitus were retrospectively analyzed, concerning age, gender, clinical and metabolic characteristics. The prevalence of metabolic syndrome was 78.4%. The comparative analysis between the groups with and without metabolic syndrome was significantly associated with coronary artery disease (p=0.032). By means of logistic regression, waist circumference (p=0.79) and fasting glucose (p=0.13) were not significant. The arterial hypertension (p=0.01) and dyslipidemia (p=0.005) showed significant association with coronary artery disease. Therefore, we can conclude that the metabolic syndrome is highly prevalent in patients with type 2 diabetes mellitus; it has shown an association with coronary heart disease and among its components, arterial hypertension and dyslipidemia indicate a significant association.
Diabetes Mellitus constitui um grupo de doenças metabólicas caracterizado por hiperglicemia resultante de defeitos na secreção de insulina, na sua ação periférica ou em ambas. As manifestações clínicas do diabetes são amplas e podem compreender desde intolerância assintomática à glicose até complicações agudas como a cetoacidose diabética ou complicações de evolução lenta, tais como alterações vasculares e neurológicas. As alterações vasculares atingem praticamente todos os vasos do organismo, pequenos e grandes, constituindo a micro e a macroangiopatia, respectivamente. As principais expressões clínicas da microangiopatia são a retinopatia e a nefropatia diabética. A macroangiopatia é representada pela aterosclerose mais precoce, mais grave e mais frequente que a observada na população não diabética. O não estabelecimento ou definição de um limiar glicêmico em diabéticos e a persistência desta relação em não-diabéticos sugerem que a glicemia é uma variável contínua de risco, da mesma forma que outros fatores de risco cardiovascular. A dislipidemia diabética caracteriza-se pelo aumento de partículas de LDL pequenas e densas, pela redução do HDL colesterol e valores elevados de triglicérides. Diabetes ou pré-diabetes, baixo valor de HDL colesterol, triglicérides elevado e hipertensão são fatores de risco que, ligados à obesidade central, formam a síndrome metabólica e aumentam em 1,5 vezes a mortalidade geral e em 2,5 vezes, a cardiovascular. Diante do exposto, o propósito do estudo foi avaliar a prevalência de síndrome metabólica de acordo com a definição do National Cholesterol Education Program Adult Treatment Panel III em pacientes com diabetes mellitus tipo 2 e a sua associação e a dos seus componentes com a doença coronariana. Um total de 610 pacientes com diabetes mellitus tipo 2 foram analisados, retrospectivamente, quanto à idade, sexo e características clínicas e metabólicas. A prevalência de síndrome metabólica foi de 78,4%. A Análise comparativa entre os grupos com e sem síndrome metabólica mostrou associação significativa com a doença coronariana (p=0,032). Por meio de regressão logística, a circunferência abdominal (p=0,79) e a glicemia de jejum (p=0,13) não foram significativas. A hipertensão arterial (p=0,01) e a dislipidemia (p=0,005) evidenciaram associação significativa com a doença coronariana. Portanto, podemos concluir que a síndrome metabólica tem alta prevalência em pacientes com diabetes mellitus tipo 2; mostrou associação com doença coronariana e entre os seus componentes, a hipertensão arterial e a dislipidemia denotaram associação significativa.
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Lucca, Julie Ann. "ASSOCIATIONS BETWEEN ALCOHOL CONSUMPTION AND FASTING BLOOD GLUCOSE IN YOUNG ADULTS." DigitalCommons@CalPoly, 2013. https://digitalcommons.calpoly.edu/theses/1057.
Full textAbstract:
Current research shows moderate alcohol consumption is associated with decreased risk of diabetes and excessive consumption or binge drinking can cause insulin resistance and diabetes. In 2010, diabetes was the seventh leading cause of death in the United Statesand was responsible for significant health complications: blindness, kidney failure, and limb amputations, and is a large national economic burden. Fasting blood glucose (FBG) is a tool used to help diagnose diabetes. Abnormally high FBG, ≥100 mg/dl, is indicative of diabetes and pre-diabetes. Few studies have observed diabetic prevalence among young adults or college students. Studying young adults can help provide added information about early risk factors for diabetes and pre-diabetes, facilitating public health efforts to stem the rising tide of the diabetes epidemic. This study aimed to research the associations between alcohol consumption (numbers of days alcohol consumed in the past month and binge alcohol consumption in the past month) and FBG in a college population as part of the FLASH cohort study. FBG levels were measured in 141 young adult participants and alcohol consumption was determined by self report. Other individual-level characteristics and potential confounding variables were also collected. The association between alcohol consumption and FBG followed a J-shaped curve whereby students who reported drinking 6-8 days within the last 30 days showed significantly lower FBG levels than those who did not drink and those who consumed alcohol on nine or more days (p=0.04). Binge drinking did not have a significant association with FBG (p=0.4). Sex and body mass index were also significantly associated with FBG. In conclusion, moderate frequency of alcohol consumption is found to have an inverse relationship with FBG and excessive drinking can reverse these effects.
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Tran, Hoang V. "Ventricular Arrhythmias Complicating Coronary Artery Disease: Recent Trends, Risk Associated with Serum Glucose Levels, and Psychological Impact." eScholarship@UMMS, 2018. https://escholarship.umassmed.edu/gsbs_diss/980.
Full textAbstract:
Introduction: Ventricular arrhythmias (VAs) are common after an acute coronary syndrome (ACS) and are associated with worse clinical outcomes. However, little is known about recent trends in their occurrence, their association with serum glucose levels, and their psychological impact in ACS setting.
Methods: We examined 25-year (1986-2011) trends in the incidence rates (IRs) and hospital case-fatality rates (CFRs) of VAs, and the association between serum glucose levels and VAs in patients with an acute myocardial infarction (AMI) in the Worcester Heart Attack Study. Lastly, we examined the relationship between in-hospital occurrence of VAs and 12-month progression of depression and anxiety among hospital survivors of an ACS in the longitudinal TRACE-CORE study.
Results: We found the IRs declined for several major VAs between 1986 and 2011while the hospital CFRs declined in both patients with and without VAs over this period. Elevated serum glucose levels at hospital admission were associated with a higher risk of developing in-hospital VAs. Occurrence of VAs, however, was not associated with worsening progression of symptoms of depression and/or anxiety over a 12-month follow-up period in patients discharged after an ACS.
Conclusions: The burden and impact of VAs in patients with an AMI has declined over time. Elevated serum glucose levels at hospital admission may serve as a predictor for in-hospital occurrence of serious cardiac arrhythmias. In-hospital occurrence of VAs may not be associated with worsening progression of symptoms of depression and anxiety in patients with an ACS.
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Veltri, Flora. "Variables influencing thyroid function during pregnancy and their potential use in clinical practice." Doctoral thesis, Universite Libre de Bruxelles, 2020. https://dipot.ulb.ac.be/dspace/bitstream/2013/313347/4/TDM.pdf.
Full textAbstract:
Pregnancy is a condition leading to an important strain on thyroid morphology and function.A normal functioning of the thyroid gland in the mother is essential for the early fetal development, since the fetal thyroid does not produce thyroid hormones until the end of the first trimester (approximately 12 to 14 weeks).The impact of thyroid dysfunction (and especially hypothyroidism) during pregnancy is well documented and has been associated with a number of obstetrical complications, such as premature delivery, low birth weight and even fetal death. In view of all changes in thyroid physiology during pregnancy the ATA (American Thyroid Association) guidelines recommend using trimester- and population-specific normality ranges, to define thyroid dysfunction. It is proposed to determine them in pregnant women without thyroid antibodies (TPO) and without severe iodine deficiency. Due to the few numbers of randomized clinical trials, there is still no consensus whether all pregnant women should be screened or only women at risk for the development of thyroid dysfunction during pregnancy.Thyroid dysfunction during pregnancy is caused in most cases by the presence of thyroid autoimmunity (TAI) and also the altered pregnancy outcomes in most studies are associated with the presence of TAI.Besides the presence of TAI, other factors might also change, influence and/or modify thyroid function. When we started our research, there were only few studies that investigated the impact of other variables, such as iron, BMI, smoking habit and/or the background of the pregnant women on the prevalence of thyroid dysfunction during the first trimester of pregnancy.The aims of the thesis were therefore, to investigate: • the association between the iron reserve status (ferritin levels), thyroid (dys)function and autoimmunity, corrected for confounders such as age, BMI, smoking habit and the time of blood sampling;• the impact of the ethnic background of the pregnant woman on thyroid function and autoimmunity, corrected for confounders such as age, BMI, smoking habit, and the time of blood sampling. Furthermore, to determine ethnic-specific reference ranges and investigate their impact on the diagnosis of thyroid dysfunction;• the impact of changes in thyroid function within the normal reference range in women free of thyroid autoimmunity on pregnancy outcomes, corrected for established covariates (age, BMI, smoking) and iron reserve as candidate new variable.• whether targeted high-risk screening for thyroid dysfunction during pregnancy could be improved with the inclusion of iron status and ethnicity to the actual risk factors defined in the ATA-GL.The results can be summarized as follows:Thyroid function during pregnancy can be influenced by variables others than thyroid antibodies such as the iron status and the ethnical background of the women. However, their impact on thyroid function is less important compared to that of thyroid antibodies. No significant impact of well-known variables (BMI, age, smoking) and others such as iron has been shown on clinical pregnancy outcomes when thyroid function remained within the normal range and no thyroid antibodies were present.We have shown that adding variables such as iron deficiency, ethnic background and obesity to the currently provided list of factors leading to a high-risk for the development of thyroid dysfunction during pregnancy, might improve the detection rate of subclinical hypothyroidism to comparable rates obtained in case of universal screening.Doctorat en Sciences médicales (Médecine)
info:eu-repo/semantics/nonPublished
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Watutantrige, Fernando Sara. "Caratteristiche clinico molecolari dei carcinomi tiroidei differenziati ad alto rischio." Doctoral thesis, Università degli studi di Padova, 2018. http://hdl.handle.net/11577/3425871.
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Background: Differentiated thyroid carcinoma (DTC) is the most common endocrine malignancy, and its incidence is rapidly increasing. Its prognosis is usually excellent, but some patients exhibit an aggressive tumor with poor clinical outcome. The clinical-molecular features that confer an aggressive phenotype in DTC are object of various studies, being the clinical significance of some of them still uncertain. A greater knowledge of clinical, pathological and molecular features of DTC might improve the diagnostic frame and lead to an individualized therapy.
The objectives of the study: 1) clinical characterization of high-risk DTC cases; 2) molecular characterization with reference on the study of BRAF, RAS, TP53, PTEN and PIK3CA genes and TERT promoter; 3) correlation between clinical and molecular features; 4) comparison of clinical-molecular profile between high- and low risk DTC.
Materials and methods: We studied 119 high-risk patients (max dimension >40mm and/or metastatic) who underwent surgery for diagnosis of DTC between 2007 and 2016. Clinical-molecular features of these patients were compared with those of 144 adult patients, consecutive for molecular study, who underwent surgery for diagnosis of DTC between 2007 and 2010.
Results: subjects with metastatic tumor or both metastatic and tumor size larger than 40mm had worse outcome than subjects with tumor larger than 40mm: during the follow-up they had a persistent disease or were dead in 62% and 79% of cases respect to 13% of the latter (p<0,01), they were also more likely to undergo a second treatment (67% and 86% respect to 8%, p<0,01) and had a reduced Disease-Free Survival (DFS) (p<0,01).
Among patients with high-risk tumors, we detected BRAF mutations in 26% of cases, RAS mutations in 10% of cases, TERT promoter mutations in 18% of cases, TP53 mutations in 1% of cases, PTEN mutations in 2% of cases, PIK3CA in 3% of cases. No link was found between these mutations and outcome, except for TERT promoter mutations that were linked to a more severe disease. Metastatic subjects had a higher prealence of TERT promoter mutations than subjects with larger size tumors (27% vs 11%, p<0,01).
Patients with high-risk cancer had worse clinical-pathological features than low-risk patients, except for the rate of multifocal disease. Regarding the outcome, high-risk patients had poorer clinical outcome, were more likely to have second treatment and had reduced DFS.
BRAF gene mutations were more often found in low-risk carcinomas respect to the high-risk ones (61% vs 26%, p<0,01), while among high-risk cases respect to the low-risk ones, RAS mutations were more common (10% vs 2%, p<0,01), particularly in tumors >40mm, so that TERT mutations (18% vs 3%, p<0,01), particularly among metastatic subjects.
Globally, TERT promoter mutations, even in association with other molecular events, are related to older age (67 years vs 47 years, p<0,01), larger tumor size (43mm vs 17mm, p<0,01), tumor extension (T4: 11% vs 4%, p<0,01), distant metastases (56% vs 18%, p<0,01), advanced stage (stage IV: 41% vs 11%, p<0,01), need for a second treatment (27% vs 17%, p<0,01) and worse outcome (persistence/death 69% vs 18%, p<0,01).
With the multivariate analysis, TERT mutations, lymph node involvement and distant metastatis resulted independent risk factors for predicting a persistent disease.
Conclusions: patients with high-risk tumors, particularly metastatic ones, had a worse outcome. The prognostic value of sex, age, tumor size, multifocality, T, N, M and stage was confirmed; TERT mutations, lymph node involvement and distant metastases were found to be independent risk factors for predicting a persistent disease. Patients carrying TERT promoter mutations were found to have a poorer prognosis: they have aggressive carcinomas and worse clinical outcome. No link was found between BRAF, RAS, TP53, PTEN and PIK3CA gene mutations and the clinical-pathological features analyzed.Presupposti dello studio: Alcuni pazienti affetti da carcinoma differenziato tiroideo (DTC) esitano in persistenza o decesso. Una maggiore definizione delle caratteristiche clinico-molecolari potrebbe consentire un miglior inquadramento diagnostico e l’esecuzione di una terapia individualizzata. Scopo dello studio: 1) caratterizzazione clinica dei casi dei DTC ad alto rischio dell’adulto; 2) caratterizzazione molecolare (BRAF, RAS, TP53, PTEN, PIK3CA e di TERT promotore) nei DTC ad alto rischio dell’adulto; 3) correlazione tra gli aspetti clinico/molecolari; 4) confronto tra il profilo clinico/molecolare dei DTC ad alto rischio con quelli a basso rischio. Materiali e metodi: Abbiamo studiato 119 pazienti con tumore ad alto rischio (dimensione maggiore >40mm e/o metastasi a distanza), sottoposti a intervento chirurgico per DTC tra il 2007 e il 2016. Le caratteristiche clinico/molecolari dei pazienti sono state confrontate con quelle di 144 pazienti adulti consecutivi per studio molecolare. Risultati: I soggetti con tumore metastatico e metastatico di grosse dimensioni presentavano outcome peggiore dei soggetti con tumore>40mm: risultavano più frequentemente persistenti/deceduti (62% e 79% vs 13%, p<0,01), necessitavano più spesso di secondo trattamento (67% e 86% vs 8%, p<0,01) e presentavano Disease-Free Survival (DFS) ridotta (p<0,01). Nel gruppo dei carcinomi ad alto rischio sono state riscontrate mutazioni puntiformi a carico di BRAF (26%), RAS (10%), TERT promotore (18%), TP53 (1%), PTEN (2%) e PIK3CA (3%). Tra i pazienti mutati e quelli wt non è stata rilevata differenza di outcome fatta eccezione per la mutazione di TERT, che era correlata ad indici di malattia più severi. I soggetti metastatici presentavano una maggior prevalenza di mutazioni a carico di TERT rispetto ai soggetti con tumore>40mm (27% vs 11%, p<0,01). I pazienti ad alto rischio differivano dai pazienti a basso rischio per tutte le caratteristiche clinico/patologiche analizzate, eccetto la frequenza di multifocalità, risultavano più spesso persistenti/deceduti, presentavano più frequentemente necessità di secondo trattamento e mostravano ridotta DFS. Le mutazioni di BRAF sono risultate più frequenti nel gruppo di carcinomi a basso rischio (61% vs 26%, p<0,01), mentre nei carcinomi ad alto rischio sono risultate più frequenti le mutazioni di RAS (10% vs 2%, p<0,01), in particolare nei tumori>40mm, e di TERT promotore (18% vs 3%, p<0,01), in particolare nei soggetti metastatici. Globalmente la mutazione di TERT promotore, anche in associazione con altri eventi molecolari, era correlata ad età avanzata (64aa vs 47aa, p<0,01), dimensione maggiore (43mm vs 17mm, p<0,01), estensione del tumore (T4 11% vs 4%, p<0,01), metastasi a distanza (56% vs 18%, p<0,01), stadio avanzato (stadio IV 41% vs 11%, p<0,01), necessità di secondo trattamento (57% vs 17%, p<0,01) ed outcome peggiore (persistenza/decesso 69% vs 18%, p<0,01). All’analisi multivariata sono risultati fattori indipendenti di outcome negativo la presenza di mutazioni a carico di TERT, il coinvolgimento linfonodale e la presenza di metastasi a distanza (p<0,05). Conclusioni: i pazienti con tumore ad alto rischio, in particolare i metastatici, presentano un outcome peggiore. L’impatto prognostico di tutte le caratteristiche cliniche analizzate (sesso, età, dimensioni, multifocalità, T, N, M, stadio) è stato confermato, sebbene siano risultati fattori indipendenti per recidiva o persistenza di malattia la presenza di mutazioni di TERT promotore, il coinvolgimento linfonodale e le metastasi a distanza. La mutazione di TERT è associata ad una prognosi peggiore: i soggetti mutati presentano malattia più aggressiva e un outcome peggiore. Non sono state rilevate differenze di prognosi nei pazienti che presentavano mutazioni puntiformi negli altri geni indagati.
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Sartorato, Paola. "Ruolo dei recettori dell'LH e del GnRH nell'iperaldosteronismo primitivo: studi clinici e molecolari." Doctoral thesis, Università degli studi di Padova, 2009. http://hdl.handle.net/11577/3426403.
Full textAbstract:
Primary aldosteronism (PA) is characterized by a chronic, excessive and autonomous adrenal aldosterone secretion. The mechanism causing steroids production in adrenal adenoma and hyperplasia remains poorly defined. Within the adrenal gland, ectopic expression of G-protein-coupled receptors (GPCRs) has been shown to cause excessive production of cortisol in some cases of ACTH-independent Cushing's syndrome. Recently, it has been demonstrated that some GPCRs (serotonin 5-HT4 receptor, V1-vasopressin receptor, GIP receptor, LH/hCG and GnRH receptors) are abnormally expressed in aldosteronomas.
The aim of our study was to investigate the role of LH-GnRH receptors as potential regulators of aldosterone secretion. We first investigated a patient (index case) with new diagnosis of PA during pregnancy and then extended our study to a wider group of patients to evaluate through, in vivo and molecular analysis, the possible clinical fallout of the data previously reported.
A GnRH stimulation test was performed in 12 patients affected by PA and in 5 controls. In the index case we also measured aldosterone levels after chorionic gonadotropin and a long-acting GnRH analogue. RTPCR was performed to evaluate GnRH and LH receptors in 23 PA and 6 normal tissues. Immunohistochemistry was done in 16 and 7 samples for LH and GnRH receptors respectively.In vivo GnRH test showed a variable increase of aldosterone levels in 10 patients with a positive response (>50%) in 3 of them (in 2 higher than 100%). An increase of plasma aldosterone was also observed after chorionic gonadotropin injection and Triptorelin administration in the index case. Aldosterone levels were not modified by GnRH infusion in control subjects. RT-PCR showed the presence of LH receptor in 22 out of 23 PAs and in normal tissues with comparable levels. GnRH receptor was detected at low levels in normal tissues whereas 7 PA tissues presented an expression significantly higher than normal adrenal glands. Two single APA samples exhibited the highest GnRH receptor expression (95-fold and 109-fold). Immunostaining identified the presence of the LHR protein in 12/16 PA and GnRHR protein in 7/7 APA tissues. In the index case GnRH staining was positive mainly in the aldosteronoma and lesser in the adjacent adrenal.
In conclusion, we observed that in a high percentage of patients with PA, plasma aldosterone seems to respond variably to GnRH stimulation; in a subset of patients, aldosterone response is significantly elevated. Molecular and immunohistochemical studies for LH receptor showed a similar expression in normal and tumoral tissues. The expression of GnRH receptor was significantly elevated in a subgroup of patients with PA compared to normal adrenal glands. In the index case, clinical and molecular data suggest that during pregnancy the patient may have been exposed to high levels of placental GnRH that can potentially activate the overexpressed adrenal GnRH receptor. These results support the concept of LH or GnRH dependent aldosterone secretion in a subset of patients with APA and IHA. The use of GnRH test in patients with a suggestive medical history (pregnancy, menopause, primary hypogonadism) can provide useful data to clarify PA pathogenesis and for the clinical follow-up.L'iperaldosteronismo primitivo (PA) è caratterizzato da una cronica, eccessiva e autonoma secrezione di aldosterone da parte delle ghiandole surrenaliche. I meccanismi che guidano la sintesi degli steroidi negli adenomi e nelle iperplasie surrenaliche rimangono da chiarire. Recenti studi hanno dimostrato che in alcuni casi di sindrome di Cushing ACTH indipendente la secrezione di cortisolo può essere regolata dalla presenza di recettori ormonali illeciti legati alle proteine G (GPCR) espressi nel tessuto surrenalico. Recenti dtudi molecolari suggeriscono che alcuni GPCR (il recettore serotoninergico 5-HT4, il recettore per la vasopressina V1, il recettore per il GIP, e i recettori per LH/hCG e per GnRH) possono essere espressi in maniera aberrante anche in tumori surrenalici secernenti aldosterone. Lo scopo del nostro lavoro è stato quello di approfondire il ruolo dei recettori dell'LH e del GnRH come potenziali regolatori dell'iperincrezione di aldosterone. Il lavoro si è svolto partendo dallo studio clinico di una paziente affetta da PA insorto in gravidanza (caso indice) e successivamente esteso ad una casistica più ampia di pazienti per indagare attraverso test in vivo e studi molecolari la possibile ricaduta clinica dei dati molecolari finora riportati in letteratura. Per effettuare questo lavoro abbiamo valutato la risposta in vivo dell'aldosterone al GnRH in 12 pazienti affetti da PA e in 5 soggetti sani; nel caso indice abbiamo valutato la risposta dell'aldosterone plasmatico anche dopo gonadotropina corionica e un analogo long-acting del GnRH. Abbiamo studiato l'espressione tissutale attraverso Real Time PCR dei recettori dell'LH/hCG e del GnRH in 23 tessuti patologici e in 6 surreni sani; l'indagine immunoistochimica per i due recettori è stata condotta rispettivamente in 16 adenomi per il recettore LH/hCG e in 7 per il recettore del GnRH. Il Test al GnRH ha documentato un incremento variabile dei livelli di aldosterone in 10 sui 12 pazienti studiati con una risposta positiva (>50%) in 3 casi in due dei quali l'incremento è stato superiore al 100%. Il caso indice ha evidenziato una risposta positiva dell'aldosterone anche dopo gonadotropina corionica mentre dopo triptorelina si è osservata un progressivo aumento dei livelli plasmatici di aldosterone. In nessuno dei soggetti di controllo vi è stato un incremento dei livelli di aldosterone dopo stimolo. Lo studio del recettore per LH attraverso RTPCR ha evidenziato la presenza del recettore nei surreni normali e in 22 su 23 campioni patologici con dei livelli di espressione comparabili tra i due gruppi. Il recettore per il GnRH è risultato essere presente nei surreni normali anche se con un valore medio di espressione molto basso mentre in 7 tessuti patologici l'espressione del gene è risultata significativamente elevata (in due casi di 95 e 109 volte rispetto al tessuto surrenalico normale). L'analisi immunoistochimica ha identificato il recettore dell'LH in 12 su 16 casi di aldosteronoma e il recettore del GnRH in tutti e 7 i campioni studiati. La paziente del caso indice presentava una intensa positività per il recettore del GnRH del tessuto adenomatoso e meno nel tessuto peritumorale circostante. In conclusione, nella nostra casistica, in un'elevata percentuale di pazienti con PA l'aldosterone plasmatico sembra rispondere, seppur in modo variabile, allo stimolo con GnRH; in un sottogruppo di pazienti la percentuale di risposta dell'ormone è significativamente elevata. Gli studi molecolari e di immunoistochimica condotti per il recettore dell'LH hanno evidenziato che si tratta di un recettore che oltre che presentare un'espressione eutopica è presente anche nella maggior parte dei tessuti patologici con dei livelli di espressione simili. L'espressione del recettore del GnRH è risultata significativamente elevata in un sottogruppo di pazienti affetti da PA rispetto ai surreni normali. I dati molecolari e di immunoistochimica e i risultati dei test condotti in vivo nel pre e nel post operatorio del caso indice suggeriscono che durante la gravidanza la paziente possa essere stata esposta ad elevati livelli di GnRH di origine placentare in grado potenzialmente di attivare i recettori surrenalici del GnRHR iperespressi. I risultati del nostro lavoro supportano l'ipotesi che in un sottogruppo di pazienti affetti da PA la secrezione di aldosterone possa essere LH o GnRH dipendente. L'utilizzo del test al GnRH in pazienti con una storia clinica suggestiva (gravidanza, menopausa, ipogonadismo primitivo) potrebbe fornire dati utili per chiarire la patogenesi dell'iperaldosteronismo e per il successivo follow-up clinico.
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Sala, E. "RUOLO DEL POLIMORFISMO CA (19) DELLA REGIONE PROMOTER DEL GENE IGF-1 SULLA PRESENTAZIONE CLINICA DEI PAZIENTI ACROMEGALICI." Doctoral thesis, Università degli Studi di Milano, 2013. http://hdl.handle.net/2434/217620.
Full textAbstract:
INTRODUCTION A highly polymorphic microsatellite, comprising a variable length of a Cytosine-Adenosine (CA) repeat sequence, has been identified in the promoter region of IGF-I gene. The number of CA repeats ranges between 10 and 24 and the most common allele in the Caucasian population contains 19 CA (192 bp) repeats. Several studies investigated the relationship between this polymorphism and IGF-I levels, with conflicting results. Aim of this study was to investigate the influence of this polymorphism on clinical and biochemical characteristics in 88 acromegalic patients.
MATERIALS AND METHODS Different genotypes were studied by microsatellite method and patients were divided in 3 groups: group A, homozygous for 192 bp allele (n=26, 29.2%), group B, with a number of repeats ≥19 (n=36, 40%,) and group C, with a number of repeats ≤19 (n=27, 30%). 98 healthy patients were analyzed as controls.
RESULTS No difference in the frequency of the different alleles was observed between patients and controls. In the acromegalic population the genotype did not influence IGF-I level at diagnosis. However, a worse of insulin sensitivity documented by a significant increase (p=0.01) in HOMA-IR was observed in group B (6.2±5.9) compared with group A (5.0±3.3) and C (4.0±3.1). Moreover, higher levels of total cholesterol and LDL (p=0.01 and p=0.01 respectively) were present in group B (233±49 and 168.5±46.6 respectively) compared to group C (175.3±43.4 and 104.0±38.2 respectively). Interestingly, the number of discrepant patients (high IGF-I and normal GH levels) during medical therapy was significantly higher in group B compared to groups A (p=0.02) and C (p=0.05).
CONCLUSION Different IGF-I genotypes do not account for a different presentation in acromegalic patients. Nevertheless, our data suggest that a number of CA repeat higher than 19 may be related to a worse glucidic and lipidic metabolism and to a partial disease control during medical treatment.
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CORREIA, Cristiano de Almeida. "Impacto da suplementação de vitamina D em adultos com diabetes Mellitus tipo 2." Universidade Federal de Alfenas, 2015. https://bdtd.unifal-mg.edu.br:8443/handle/tede/542.
Full textAbstract:
A relação entre diabetes mellitus e suas complicações e a deficiência de vitamina D
tem se mostrado cada vez mais evidente em diversos estudos realizados recentemente. No
entanto, muitos destes estudos são observacionais e os poucos estudos de intervenção
possuem curto tempo de duração ou utilizam doses que seriam insuficientes, dificultando a
definição de uma relação causal entre tais fatores. Este estudo tem como objetivo avaliar a
influência da reposição de vitamina D sobre o controle glicêmico e complicações diabéticas.
Foram avaliados pacientes diabéticos tipo 2, com deficiência de vitamina D [25(OH)vitamina
D abaixo de 30 ng/mL], sendo que tais pacientes foram aleatorizados de forma duplo-cega
quanto à reposição de vitamina D3, na dose de 5000 UI diárias durante 3 meses, em dois
grupos: grupo1 (n=20) e grupo 2 (n=13), que foram cruzados na metade do estudo. Foram
analisadas, além dos níveis de 25(OH) vitamina D, indicadores de controle glicêmico, de
inflamação sistêmica, além de outras variáveis secundárias. A neuropatia foi avaliada por
meio do Escore de Sintomas Neuropáticos. Tais indicadores foram medidos no início do
estudo e após 3 e 6 meses de seguimento dos pacientes. Aos 3 meses do estudo, os pacientes
tiveram a intervenção alternada (de placebo para vitamina D3 e vice-versa), caracterizando
um ensaio clínico cruzado ou cross-over. Após coleta dos dados e análise estatística,
corrigindo-se para o efeito da sequência de intervenção, ou efeito carry-over, observou-se que
nenhuma das variáveis analisadas sofreu influência estatisticamente significativa da
intervenção, incluindo a própria 25-hidroxivitamina D. Dessa forma, ficou demonstrado que a
reposição de vitamina D3 na dose de 5.000 UI diárias por três meses não é capaz de levar a
modificações nas concentrações de 25-hidroxivitamina D, nos parâmetros de controle
glicêmico, de inflamação sistêmica, no perfil lipídico, na função renal, na albuminúria e no
Escore de Sintomas Neuropáticos. Tal fato suscita questões sobre a posologia ideal e dose
adequada de vitamina D3 para gerar repercussão, isto é, aumento real nas concentrações de
25-hidroxivitamina D, e, assim, influenciar o controle glicêmico e os indicadores de
nefropatia e neuropatia em pacientes portadores de diabetes mellitus tipo 2.The relationship between diabetes mellitus, its complications and vitamin D deficiency has been shown to be increasingly evident in several recent studies. However, many of these studies are observational and the few intervention studies have short duration or utilize small dosages which turns it difficult to define a causal relationship between these factors. This study aims to evaluate the influence of vitamin D replacement on glycemic control and diabetic complications. Type 2 diabetic patients deficient in vitamin D [25 (OH) vitamin D below 30 ng / ml] were evaluated and randomized in a double-blind fashion concerning to replacement of vitamin D into two groups: group 1 (n = 20) and group 2 (n = 13) that were crossed in the middle of the study. In addition to levels of 25 (OH) vitamin D, plasma concentrations of calcium, phosphorus, magnesium, glycated hemoglobin, fasting glucose, fasting insulin, C-peptide, ultrasensitive PCR, lipid profile and plasma creatinine, along with the albumin / creatinine ratio in spot urine sample were analyzed and calculated HOMA-IR and beta indexes (Homeostasis Model Assessment - Insulin resistance and beta) to determine the degree of insulin resistance and secretion, respectively. The neuropathy was assessed by Neuropathy Symptom Score. Such markers were measured at baseline and after 3 and 6 months of follow-up. At 3 months of follow-up patients had intervention changed (vitamin D3 to placebo and vice versa) featuring a cross-over clinical trial. After data collection and statistical analysis correcting for the intervening sequence or carry-over effect, was observed that none of the variables suffered statistically significant interference by the intervention, including 25-hydroxyvitamin D itself, demonstrating that replacement of vitamin D3 in a dose of 5000 IU per day for three months are not able to lead to changes in the concentration of 25- hydroxyvitamin D, glycemic control parameters, systemic inflammation, lipid profile, the renal function parameters, in albuminuria and Neuropathy Symptom Score. It raises issues about the ideal and proper dosage of vitamin D3 to bring forth a real increase in concentrations of 25-hydroxyvitamin D and thus influence glycemic control nephropathy and neuropathy in type 2 diabetic patients.
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Campi, I. "DESCRIZIONE DI UN CASO DI SEVERA INSULINO-RESISTENZA E LIPODISTROFIA PARZIALE, CAUSATO DA UNA MUTAZIONE A CARICO DEL PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA (PPAR-GAMMA): CARATTERIZZAZIONE CLINICA E MOLECOLARE." Doctoral thesis, Università degli Studi di Milano, 2013. http://hdl.handle.net/2434/217628.
Full textAbstract:
Mutations affecting ligand or DNA binding functions of PPARγ are associated with lipodystrophic insulin resistance. In the present study, we describe a 31 yr old female, heterozygous for a novel, mutation of PPARγ. Clinical features included hirsutism, polycystic ovarian syndrome, dyslipidaemia and hypertension. Hyperinsulinaemia during an OGTT and HOMA-IR 11.1% confirmed severe insulin resistance. She had distal limb and gluteal lipodystrophy with reduced subcutaneous adipose tissue (SCAT) but preserved visceral adipose tissue (VAT), with SCAT/VAT ratio of 0.619 (NR 0.19±0.084) and hepatic steatosis on MRS (Intrahepatic lipid 26.8% NR<5). In functional studies, the mutant receptor was more transcriptionally impaired with lower-affinity ligand (PGJ2) than synthetic agonist (rosiglitazone). Electrophoretic mobility shift assays (EMSA) with hFABP4 PPARE showed absent DNA binding. Modelling based on the PPARγ–RXR heterodimer structure, indicates that this mutation involve a conserved aminoacid, which forms part of the extended DNA binding domain in the hinge region of the receptor. This residue interacts with bases in the minor groove upstream of the PPARE, and this substitution is predicted to destabilize such contacts. This mutation represents a novel mechanism whereby loss of receptor interaction with DNA is associated with human metabolic disease.
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Pires, Antonio Carlos. "Influência do diabete melito na morbidade e mortalidade da insuficiência renal aguda em unidade de terapia intensiva." Faculdade de Medicina de São José do Rio Preto, 2003. http://bdtd.famerp.br/handle/tede/20.
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Previous issue date: 2003-02-23Acute Renal Failure can be defined as an abrupt and sustained reduction in the glomerular filtration rate with a consequent retention of nitrogenous waste products. Despite the development in treatment, mortality remains high, varying beetween 50 and 70%. In hospitalised patients the incidence is about 5% but in respect to intensive care units it varies from 10 to 30%. In the last three decades, the characteristics of patients who suffer from acute renal failure changed dramatically. Before the advent of dialytic treatment, the main causes of mortality were uraemia, hyperkalaemia and the cardiac complications arising from volume overload. Nowadays, the causes are sepsis, cardiopulmonary failure, nephrotoxic drugs, and post renal transplantation complications. Multiple organ dysfunction, disseminated intravascular coagulation and diabetes mellitus are morbid conditions that can aggravate the prognosis of acute renal failure in intensive care units. Due to the high prevalence of diabetes mellitus in the population, this study intends to evaluate its influence in the morbidity and mortality of patients suffering from acute renal failure in the intensive care unit of Hospital de Base of São José do Rio Preto, Brazil was made in the period from January 1997 to December 2000. A total of 255 (25%) of the patients were diabetic and 765 (75%) were not. Demographic data, the presence of underlying diseases, aetiology, types, the clinical features and complications of acute renal failure were evaluated. Besides these, the presence of multiple organ failure syndrome was observed. In the study population 64% were male, 46% were more than 60 years old and 85% had one or more concomitant diseases. The ischaemic aetiology predominated in 53% of cases and a clinical cause was the most common type seen at 57%. The means and standard deviations of the Apache II score and creatinine levels (mg/dL) were 20.5 + 6.7 and 3.7 + 2.0 respectively. The prevalence of disseminated intravascular coagulation, shock, liver failure and respiratory failure were 32%, 69%, 15% and 79% respectively. Among the observed complications hyperkalaemia was seen in 35%, acidosis in 70%, sepsis in 61%, systemic arterial hypertension in 14%, bleeding in 22%, central nervous system disfunction in 44% and mortality in 71% of the cases. The demographic data, clinical features, morbidity and mortality due to acute renal failure of diabetic and non-diabetic individuals were compared. The hyperkalaemia, acidosis, respiratory failure, shock, central nervous system dysfunction, hypervolaemia and the bleeding were similar in both groups. A logistic regression analysis did not demonstrate a significant association between diabetes mellitus and mortality. An ischaemic aetiology, the failure of three or more organs, hyponatraemia and acidosis exhibited significant association between mortality and acute renal failure. In conclusion, the diabetic patients were older involving fewer men, with less oliguria, disseminated intravascular coagulation, hyponatraemia and liver failure than the non-diabetic individuals. Diabetes mellitus had no influence on the mortality due to acute renal failure in the intensive care unit.
A insuficiência renal aguda pode ser definida como uma redução abrupta e sustentada da taxa de filtração glomerular com conseqüente retenção de produtos nitrogenados. Apesar da evolução terapêutica, a sua mortalidade ainda continua elevada, variando entre 50 e 70%. Em pacientes hospitalizados, a sua incidência está próxima de 5% e, especificamente, em unidades de terapia intensiva, varia entre 10 e 30%. Nas últimas três décadas, as características dos pacientes acometidos de insuficiência renal aguda alteraram-se profundamente. Antes do advento do tratamento dialítico, as principais causas de mortalidade eram a uremia, a hipercalemia e as complicações cardiológicas decorrentes da sobrecarga de volume. Atualmente, são a sepse, a insuficiência cardiopulmonar, drogas nefrotóxicas e complicações pós-transplante renal. Quanto ao prognóstico de insuficiência renal aguda em unidades de terapia intensiva, a disfunção de múltiplos órgãos, a coagulação intravascular disseminada e o diabete melito são condições mórbidas que podem piorar a sua evolução. Devido à alta prevalência de diabete melito na população, o presente trabalho propôs-se avaliar a sua influência na morbidade e mortalidade da insuficiência renal aguda em unidade de terapia intensiva. Para tal, foram estudados, retrospectivamente, 1020 pacientes com insuficiência renal aguda internados na unidade de terapia intensiva do Hospital de Base de São José do Rio Preto, Brasil, no período de janeiro de 1997 a dezembro de 2000, dos quais, 255 (25%) eram diabéticos e 765 (75%) não diabéticos. Foram avaliados dados demográficos, presença de doenças de base, etiologia, tipos, quadro clínico e complicações de insuficiência renal aguda e ainda a presença de síndrome de disfunção de múltiplos órgãos. Entre a população estudada, 64% eram do sexo masculino, 46% tinham mais de 60 anos de idade, e 85% tinham uma ou mais doenças concomitantes. Nota de Resumo A etiologia isquêmica predominou com 53%, e a causa clínica foi o tipo mais freqüente com 57%. As médias e os desvios padrão de apache II e creatinina (mg/dL) foram 20,56,7 e 3,7+2 O respectivamente. A prevalência de coagulação intravascular disseminada, de choque, de insuficiência hepática e respiratória foi 32%, 69%, 15% e 79%, respectivamente. Entre as complicações, observamos a hiperpotassemia em 35%, a acidose em 70%, a sepse em 61%, a hipertensão arterial sistêmica em 14%, os sangramentos em 22%, a disfunção do sistema nervoso central em 44% e a mortalidade em 71%. Foram comparados, entre os diabéticos e os não diabéticos, os dados demográficos, quadro clínico, morbidade e mortalidade de insuficiência renal aguda. A hipercalemia, a acidose, a insuficiência respiratória, a sepse, o choque, a disfunção do sistema nervoso central, a hipervolemia e os sangramentos foram similares em ambos os grupos. A análise de regressão logística não mostrou associação significante entre diabete melito e a mortalidade. A etiologia isquêmica, a presença de três ou mais insuficiências de órgãos, a hiponatremia e a acidose foram de forma significante associadas com a mortalidade de insuficiência renal aguda. Em conclusão, os diabéticos foram mais idosos, menor prevalência de masculinos, menos oligúria, coagulação intravascular disseminada, hiponatremia e falência hepática do que os não diabéticos. O diabete melito não teve influência na mortalidade da insuficiência renal aguda em unidade de terapia intensiva.
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Vencio, Sérgio Alberto Cunha. "Avaliação do eixo hipotálamo-hipófise-adrenal em indivíduos com e sem mediunidade (experiência anômala) em um contexto religioso." Universidade Federal de Goiás, 2017. http://repositorio.bc.ufg.br/tede/handle/tede/7963.
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Objective - To evaluate the HPA axis and the mental health status in a non-pathological dissociation condition (mediumship) Methods - In this prospective and controlled study, 29 psychophonic mediums (group 1) were evaluated before and after psychophony and compared to 22 non-medium volunteers of the same religious context (group 2) before and after a creative visualization, simulating a mediumistic assistance. Plasma catecholamines, ACTH, cortisol and glucose were measured pre-and 1 hour after the intervention. A structured questionnaire - DDIS was applied (Dissociative Disorders Interview Schedule) and the results were compared with historical data from patients with dissociative disorder (DD) who answered the DDIS. Results - In group 1, cortisol and ACTH decreased (14.7 μg/dl to 11.2 μg/dl with p-0.001 and 20.6 pg/ml to 13.9 pg/ml with p-0.001, respectively), However, the HPA axis showed diversified responses with epinephrine and noradrenaline decreasing after the intervention (39 pg/ml at 33 pg/ml and 311.2 pg/ml at 284.1 pg/ml, respectively) and an increased in dopamine (41.7 pg/ml to 44.4 pg/ml with p-0.046). In group 2, cortisol decreased from 15.5 μg/dl to 13.4 μg/dl (p -0.01). The scores obtained in the structured interview (DDIS) were similar in both groups, but with considerable differences when compared with historical data from TD patients. Conclusion - This study showed that one hour after psychophony the HPA axis remains preserved in mediums. Dopamine is the main neurochemistry of religious manifestations and may eventually constitute a biomarker of this phenomenon.
Objetivo - Avaliar o eixo HHA e o estado de saúde mental em uma condição de dissociação não-patológica (mediunidade) Métodos - Neste estudo prospectivo e controlado, 29 médiuns de psicofonia (grupo1) foram avaliados pré e pós psicofonia e comparados com 22 voluntários não médiuns do mesmo contexto religioso (grupo 2) pré e pós uma visualização criativa, simulando uma assistência mediúnica. Catecolaminas plasmáticas, ACTH, cortisol e glicose foram medidas pré e 1 hora após a intervenção. Um questionário estruturado DDIS foi aplicado (Dissociative Disorders Interview Schedule) e os resultados foram comparados com dados históricos de pacientes com transtorno dissociativo (TD) que responderam ao DDIS. Resultados - No grupo 1, o cortisol e o ACTH diminuíram (14,7 μg/dl para 11,2 μg/dl com p- 0,001 e 20,6 pg/ml para 13,9 pg/ml com p-0,001, respectivamente), apesar disso, o eixo HHA mostrou respostas diversificadas com epinefrina e noradrenalina diminuindo após a intervenção (39 pg/ml a 33 pg/ml e 311,2 pg/ml para 284,1 pg/ml, respectivamente) e aumento da dopamina (41,7 pg/ml a 44,4 pg/ml com p-0,046). No grupo 2, o cortisol diminuiu de 15,5 μg/dl para 13,4 μg/dl (p-0,01). Os escores obtidos na entrevista estruturada (DDIS) foram semelhantes nos dois grupos, porém com diferenças consideráveis quando comparados com os valores históricos de pacientes com TD. Conclusão - Este estudo mostrou que uma hora após a psicofonia o eixo HHA permanece preservado em médiuns. A dopamina é a principal neuroquímica de manifestações religiosas e pode eventualmente se constituir num marcador desse fenômeno.
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Barreto, Anna Christina do Nascimento Granjeiro. "Preval?ncia de excesso de peso em pr?-escolares na cidade do Natal." Universidade Federal do Rio Grande do Norte, 2007. http://repositorio.ufrn.br:8080/jspui/handle/123456789/13156.
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Previous issue date: 2007-10-18Obesity is currently considered a public health problem and there has been growing interest in the study of various aspects related to this infirmity such as: epidemiology, diagnosis, treatment, prevention and others. Thus, the purpose of this study was to determine the prevalence of weight excess and overweight in preschoolers in Natal, Brazil and relate them to variables such as gender, age, type of school (public or private) and zones of the city (east/south and north/west). This is a transversal study, carried out in Natal, Brazil between August and September 2004, in 20 public and 20 private schools/day care centers selected by the systematic sampling method. We measured the weight and height of 3721 students between the ages of 2 and 6 years. The children were stratified, according to age, into age group 1 (2 to 4 years) and age group 2 (5 and 6 years) and according to the region of the school, into north/west and east/south zones, the regions with the smallest and highest quality of life indices in the city, respectively. Children were considered to have weight excess when BMI ≥ 85th percentile, including those with BMI ≥ 95th percentile and overweight when BMI ≥ 95th percentile. The prevalence of weight excess was 26.5%, and of overweight 12.4%. There was greater prevalence of weight excess in the private schools and in the east/south zones. Overweight displayed the same epidemiologic profile, with a greater prevalence in private schools and in the east/south zones. The prevalence of weight excess in preschoolers in Natal, Brazil is high and is related, above all, to private schools and to those located in the highest quality of life areas. Therefore, prevention programs should be implanted in elementary schools in order to decrease weight excess and possible associated co-morbidities. This research project met the norms established by PPGCSa/UFRN and aimed at promoting the interrelation between different researchers and between different fields of knowledge, using multi and interdisciplinary concepts. This study was enriched by the interaction between the following professionals: pediatrician, pediatric gastroenterologist and physician nutrition specialist, pediatric endocrinologist, epidemiologist and biostatistician
A obesidade ? considerada, atualmente, problema de sa?de p?blica, observando-se interesse crescente em estudar os v?rios aspectos relacionados a essa enfermidade como: epidemiologia, diagn?stico, tratamento, preven??o e outros. Dessa forma, este estudo teve como objetivo determinar a preval?ncia do excesso de peso e sobrepeso em pr?-escolares de Natal e relacionar essa doen?a a vari?veis tais como: g?nero, idade, tipo de escola (p?blica ou privada) e zonas da cidade (leste/sul e norte/oeste). Trata-se de estudo transversal, realizado na Cidade do Natal / RN, de agosto a dezembro de 2004, em 20 escolas/creches p?blicas e 20 privadas, selecionadas atrav?s do m?todo de amostragem sistem?tica, com sorteio ponderado. Foi preenchido protocolo e verificado o peso e a estatura de 3721 alunos de 2 a 7 anos incompletos. As crian?as foram estratificadas, segundo a idade, em faixa et?ria 1 (2 a 5 anos incompletos) e faixa et?ria 2 (5 a 7 anos incompletos) e, segundo a regi?o da escola, em zonas norte/oeste e zonas leste/sul, regi?es com menores e maiores ?ndices de qualidade de vida da cidade, respectivamente. Considerou-se como excesso de peso todas as crian?as com IMC ≥ percentil 85, inclusive aquelas com IMC ≥ percentil 95, e sobrepeso quando IMC ≥ percentil 95. A preval?ncia de excesso de peso encontrada foi 26,5%, sendo 12,4% sobrepeso. Houve maior preval?ncia de excesso de peso nas escolas privadas e nas zonas leste/sul. O sobrepeso apresentou o mesmo perfil epidemiol?gico, com maior preval?ncia nas escolas privadas e nas zonas leste/sul. A preval?ncia do excesso de peso em pr?-escolares na Cidade do Natal ? alta e est? relacionada, sobretudo, ?s escolas privadas e ?quelas situadas em regi?es de maior ?ndice de qualidade de vida. Portanto, h? a necessidade de implanta??o de programas de preven??o e controle nas escolas a partir da educa??o infantil, com objetivo de diminuir e prevenir o excesso de peso e suas poss?veis co-morbidades associadas. Esse projeto de pesquisa atendeu ?s expectativas do PPGCSa/UFRN, que tem, dentre seus objetivos, promover a inter-rela??o entre diferentes pesquisadores e entre diferentes ?reas do conhecimento, utilizando os conceitos de multi e interdisciplinaridade. Para a realiza??o deste trabalho, houve a intera??o de diversos profissionais: pediatra, gastroenterologista e nutrologista pedi?trico, endocrinologista pedi?trico, epidemiologista e bioestat?stico, contribuindo para o enriquecimento da pesquisa e satisfazendo tais rela??es
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Brasil, Lana do Monte Paula. "Excesso de peso em regi?o do nordeste brasileiro: contraste entre escolares de rede p?blica e privada de ensino." Universidade Federal do Rio Grande do Norte, 2007. http://repositorio.ufrn.br:8080/jspui/handle/123456789/13167.
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Previous issue date: 2007-11-22The prevalence of obesity has been increased in the last three decades. It is already considered as epidemic by the World Health Organization and reaches around 300 million people worldwide. The weight gain in all ages is related to a sedentary way of life and hyper caloric food ingestion at the modern society. Obesity is a chronic disease and leads to high blood pressure, diabetes, cardiovascular diseases and cancer. The aim of this study was to evaluate the prevalence of weight excess among student in Natal schools and to analyze its association with age, gender, school category and geographic localization in city zones. This was a transversal study which enrolled 1927 children. 1084 of these were between 6 and 8 years-old (group 1) and 843 were 9 to 10 years-old (group 2). 895 of the total children studied in private schools and 1032 studied in public schools. 33,6% of the students had body mass index equal or above the 85th percentile and were considered as having weight excess. There was no statistical difference in this prevalence considering neither gender nor age. The weight excess prevalence in private schools was 54,5% and in public ones was 15,6% (p<0,01; OR=6,49). Weight excess was also more prevalent in the south and east city zones (41,3%) which have better quality of life index than in the north and west zones (28,4%) (p<0,01). In conclusion, the weight excess prevalence among students is found to be high in Natal and programs of intervention and prevention of obesity are necessary. The higher prevalence in private schools as in the wealthier city zones reflects the link between obesity and high socioeconomic level found in countries in developing. This was an interdisciplinary work with participation of epidemiology, child nutrition and pediatric endocrinology following the recommendations and principles of the Post graduation Program in Health Sciences of the Federal University of Rio Grande do Norte
Os ?ndices de preval?ncia da obesidade crescem nas ?ltimas tr?s d?cadas sendo classificada como epidemia pela Organiza??o Mundial de Sa?de e atingindo 300 milh?es de pessoas em todo mundo. O progressivo ganho de peso em todas as faixas et?rias ? causado pelo modelo de vida sedent?rio e o maior consumo de alimentos hipercal?ricos da sociedade moderna. Considerada enfermidade cr?nica, promove doen?as associadas como hipertens?o, diabetes, eventos cardiovasculares e c?ncer. Objetivou-se estimar a preval?ncia de excesso de peso em escolares na Cidade do Natal e analisar sua associa??o ?s vari?veis: sexo, faixa et?ria, tipo de escola e zonas da cidade. Realizou-se estudo transversal com 1927 crian?as sendo 1084 com idade > 6 e < 9 anos (faixa et?ria I) e 843 escolares > 9 e < 11 anos (faixa et?ria II), 895 crian?as de escolas privadas e 1032 crian?as de escolas p?blicas. Foram considerados com excesso de peso os escolares com ?ndice de massa corporal para sexo e idade igual ou superior ao percentil 85. Excesso de peso foi encontrado em 33,6% das crian?as. N?o houve diferen?a significante entre os sexos e faixas et?rias. Nas escolas privadas, a preval?ncia de excesso de peso foi 54,5%; nas p?blicas, 15,6% (p<0,01, OR=6,49). Maior preval?ncia de excesso de peso foi encontrada nas escolas situadas nas zonas de melhor ?ndice de qualidade de vida da cidade, isto ?, zonas leste-sul (41,3%), quando comparada as zonas norte-oeste (28,4%) (p<0,01). Dessa forma, conclui-se que a preval?ncia de excesso de peso em escolares se mostrou alta, demonstrando a necessidade de programas de interven??o e preven??o. A maior preval?ncia nas escolas privadas, refor?ada pelo mesmo achado nas crian?as de escolas situadas nas zonas de maior poder aquisitivo da cidade, reflete a import?ncia da associa??o entre o n?vel socioecon?mico mais alto e tal enfermidade em regi?es em desenvolvimento. A execu??o desse projeto preencheu os requisitos da interdisciplinaridade, promovendo de forma ampla as rela??es entre a epidemiologia, a nutrologia e a endocrinologia pedi?trica, acentuando assim a relev?ncia do estudo ora apresentado e atendendo aos princ?pios do Programa de P?s-Gradua??o em Ci?ncias da Sa?de da UFRN
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Nowak, Christoph. "Insulin Resistance : Causes, biomarkers and consequences." Doctoral thesis, Uppsala universitet, Molekylär epidemiologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-316891.
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The worldwide increasing number of persons affected by largely preventable diseases like diabetes demands better prevention and treatment. Insulin is required for effective utilisation of circulating nutrients. Impaired responsiveness to insulin (insulin resistance, IR) is a hallmark of type 2 diabetes and independently raises the risk of heart attack and stroke. The pathophysiology of IR is incompletely understood. High-throughput measurement of large numbers of circulating biomarkers may provide new insights beyond established risk factors. The aims of this thesis were to (i) use proteomics, metabolomics and genomics methods in large community samples to identify biomarkers of IR; (ii) assess biomarkers for risk prediction and insights into aetiology and consequences of IR; and (iii) use Mendelian randomisation analysis to assess causality. In Study I, analysis of 80 circulating proteins in 70-to-77-year-old Swedes identified cathepsin D as a biomarker for IR and highlighted a tentative causal effect of IR on raised plasma tissue plasminogen activator levels. In Study II, nontargeted fasting plasma metabolomics was used to discover 52 metabolites associated with glycaemic traits in non-diabetic 70-year-old men. Replication in independent samples of several thousand persons provided evidence for a causal effect of IR on reduced plasma oleic acid and palmitoleic acid levels. In Study III, nontargeted metabolomics in plasma samples obtained at three time points during an oral glucose challenge in 70-year-old men identified associations between a physiologic measure of IR and concentration changes in medium-chain acylcarnitines, monounsaturated fatty acids, bile acids and lysophosphatidylethanolamines. Study IV provided evidence in two large longitudinal cohorts for causal effects of type 2 diabetes and impaired insulin secretion on raised coronary artery disease risk. In conclusion, the Studies in this thesis provide new insights into the pathophysiology and adverse health consequences of IR and illustrate the value of combining traditional epidemiologic designs with recent molecular techniques and bioinformatics methods. The results provide limited evidence for the role of circulating proteins and small molecules in IR and require replication in separate studies and validation in experimental designs.
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Guerra, Júnior Gil 1960. "Analise da resolução de 163 casos de ambiguidade genital em atendimento interdisciplinar no hospital das clinicas da Universidade Estadual de Campinas de 1989 a 1995." [s.n.], 1997. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308132.
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Orientador: Andre Moreno MorcilloTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: Os portadores de distúrbios da diferenciação sexual podem ser detectados ao nascimento por apresentarem ambigüidade genital, ou na puberdade por hipogonadismo. Trata-se de questões médicas urgentes e complexas, necessitando o envolvimento de vários profissionais da área da saúde para agilização e precisão na conduta diagnóstica e terapêutica desses casos. O atendimento interdisciplinar surge como alternativa para a resolução desses distúrbios. É essa a proposta do Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo (GIEDDS) do Hospital das Clínicas (HC) da Universidade Estadual de Campinas (UNICAMP). Os objetivos deste trabalho foram caracterizar a população portadora de ambigüidade genital atendidada no GIEDDS; analisar a evolução e resolução dos casos; e identificar centros universitários nacionais que realizam essa avaliação. Foram analisados retrospectivamente os prontuários de 163 pacientes com diagnóstico" de ambigüidade genital acompanhados no ambulatório do GIEDDS entre janeiro de 1989 e dezembro de 1995. Realizou-se também uma pesquisa por meio de questionário padronizado enviado pelo correio a todas as faculdades de medicina do Brasil, para averiguar e caracterizar os centros nacionais universitários ligados ao atendimento de portadores de ambigüidade genital. A maioria desses 163 pacientes apresentavam, à primeira consulta, sexo social, previamente definido, predominantemente masculino; idade superior a 2 anos; baixo 'nível sócio-econômico, e pertenciam à região de Campinas (SP). Verificou-se associação entre a maior escolaridade materna e a procura pelo serviço médico em idades mais precoces e entre as classes sociais mais favorecidas e a definição prévia à primeira consulta do sexo social. O achado de maior número de casos de sexo social masculino previamente definido relacionou-se à maior freqüência de pacientes com genitália externa de aspecto mais virilizado e à presença de gônadas palpáveis. Quanto aos diagnósticos sindrômicos, 40% dos pacientes apresentavam pseudo-hermafroditismos masculinos (PHM), e os outros 60% divididos, de modo praticamente equitativo, entre pseudo-hermafroditismos femininos (PHF), distúrbios da diferenciação gonadal (DDG), e outras patologias não relacionadas a alterações cromossômicas, gonadais ou hormonais. Entre os pacientes com genitália de aspecto feminino com gônada palpável houve um predomínio de casos de insensibilidade total aos andrógenos; naqueles com genitálias de aspecto grau 1 e 2 de PRADER, os casos de PHF; nos grau 3 não ocorreu predomínio de qualquer patologia; nos grau 4 e 5 com gônadas palpáveis, os PHM; e nestes sem gônadas palpáveis, os PHF. Entre os PHM houve um predomínio dos casos idiopáticos, devido à falta de realização de exames de biologia molecular para diagnóstico principalmente de deficiência de 5-o:-redutase 2 e insensibilidade parcial aos andrógenos. A grande maiori3: dos pacientes passam a ter sexo de. criação e diagnóstico etiológico definidos antes de 12 meses de acompanhamento no GIEDDS; e procedimento cirúrgico corretivo realizado antes de 24 meses, períodos considerados ideais se todos os pacientes fossem encaminhados no período neonatal. Os centros universitários brasileiros de atendimento a esses paci'entes concentram-se nas regiões Sudeste e Sul; com predomínio do atendimento multidisciplinar, e apresentam dificuldades na resolução desses casos devido a procura tardia desses pacientes, bem como na realização de exames citogenéticos e d.e biologia molecular. Os resultados obtidos com o atendimento interdisciplinar do GIEDDS devem ~stimular a mudança de abordagem de alguQ.s desses centros existentes, a criação de outros, bem como a integração entre todos eles. POJ;ém, todos esses esforços na melhoria do atendimento dos pacientes com ambigüidade genital não alcançarão seu objetivo principal se os mesmos continuarem a ser encaminhados tardiamente. Finalmente, sugere-se que os hospitais públicos universitários possam se beneficiar com a implantação de serviços de atendimento interdisciplinar na agilização do diagnóstico e conduta de casos complexos
Abstract: Anomalies in sex differentiation can be detected at birth, due to sex ambiguity or at puberty, because of hypogonadism. These are urgent and complex problems which need several medical professionals to make diagnosis and therapy agile and accurate. The interdisciplinary approach arises as an alternative to the resolution of these anomalies. This is the aim of the Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS) of the Clinical Hospital (HC) of the State University of Campinas (UNICAMP). The aims of this work were to characterize the group of patients with sex ambiguity referred to the GIEDDS; to evaluate the evolution and progress of these cases; and to situate and characterize other national universitary centers that perform this evaluation. ambiguity, who were attended at GIEDDS between January, ] 989 and December, ] 995, were analysed retrospectivelly. Simultaneously, we mailed a standard questionnaire to ali faculties of medicine in Brazil, to identify and characterize these national universitary centers which care for the attendance of patients with sex ambiguity. ln the majority of the cases examined the sex of rearing was defined prior to the first consultation. The subjects were predominantely males, more than 2 years old, who had a low socio-economic standing and lived in the region of Campinas (SP). In general.' the better the level of maternal education, the earlier medical assistence was sought. Similàrly, the higher the standard of living, the more frequently was the individual's sex defined pI-ior to the first consultation. The predominance of male cases reflected the greater frequency of more virilized external genitalia and palpable gonads. Forty percent of the subjects were male pseudo-hermaph rodites (MPH), while the remaining 60% were equally divided among female pseudo-hermaphrodites (FPH), gonadal differentiation anomalies, and other disorders unrelated to chromosomes, gonads or hormones. Among patients with female external genitalia and palpable gonads, there was a predominance of cases of complete androgen resistance~ among those with grades] and 2 genitalia based on the criteria of PRADER, there were cases of FPR. In grade 3 genitalia, no disorder predominated, while in grades and 5 with palpable gonads, MPH was the most common. In the abscence of palpable gonads, FPH cases were the most common. The predominance of idiopathic MPH cases reflected the lack of molecular biology proccedures needed to the diagnosis of 5-o:-reductase 2 deficiency as well as partial androgen resistance. Most of the patients received a definition of the sex of rearing and a correct etiologic diagnosis within 12 months after the start of consultations. Surgery was performed within 24 months. These intervals represent the ideal time-scale for patients evaluated during the neonatal period. The majority of the national universitary centers offering this form of attendment are located in Southeastern and Southern Brazil. In most cases, form of multidisciplinary approach is adopted for the treatment and diagnosis. The principal difficultles encountered include the delayed seeking of medical care by the patients and a lack of facilities for performing cytogenetic and molecular tests. The results obtained by the interdisciplinary approach at the GIEDDS rnay stimulate changings in many national centers, the establishment of others, as well as the integration of ali of them. However, these efforts to improve of the care of patients with sex ambiguity will not reach the expected results if there continues to exist a delayed referral. It is suggested that university hospitais would benefit from the implantation of an interdisciplinary approach for improve the diagnosis and treatment of complex cases
Doutorado
Doutor em Pediatria
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Ruscica, M. "SISTEMI PEPTIDERGICI NELLA PROGRESSIONE DEL CARCINOMA PROSTATICO UMANO: NEUROPEPTIDE Y E SOMATOSTATINA." Doctoral thesis, Università degli Studi di Milano, 2005. http://hdl.handle.net/2434/224678.
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Alcune molecole neuroendocrine, tra cui il neuropeptide Y (NPY) sembrano svolgere un ruolo importante nella progressione del carcinoma prostatico umano (CaP), essendo espressi nella prostata normale (fibre peptidergiche e cellule neuroendocrine) e patologica. In questo studio, la presenza e la funzione dei recettori per NPY (Y-Rs) sono state valutate in tre conosciuti modelli in vitro di CaP, le linee cellulari LNCaP (androgeno dipendente) e DU145 e PC3 (androgeno indipendenti). Tutte le linee cellulari hanno mostrato un’elevata espressione di proteina Y1-R (Western blot) ed una immunoreattività per Y1-R è stata riscontrata anche in preparati istologici di CaP. I geni codificanti per le isoforme recettoriali dell’NPY sono risultati differentemente espressi nelle cellule di CaP: Y1-R in tutti i cloni, Y2-R solamente in LNCaP, Y4-R solo in PC3 e Y5-R in nessuna linea cellulare (RT-PCR). Il trattamento con NPY ha indotto una riduzione della proliferazione delle cellule LNCaP e DU145 ed un aumento della stessa nelle PC3, con massima concentrazione efficace a 10-8 M. Questi effetti sono stati completamente aboliti in tutte le linee cellulari in presenza di BIBP3226, un antagonista specifico per il Y1-R. Il trattamento con NPY è risultato ridurre l’accumulo di cAMP indotto da forskolina solo nelle PC3, non ha modificato la concentrazione di Ca++ intracellulare in tutte le linee cellulari; e ha aumentato in modo rapido e transitorio i livelli di fosforilazione della proteina ERK1/2 nelle DU145 e PC3. In conclusione, recettori funzionali dell’NPY sono espressi nelle linee cellulari di CaP e l’isoforma Y1-R risulta associata in modo particolare alla modulazione della proliferazione cellulare. Questi dati suggeriscono che meccanismi correlati all’NPY possano essere rilevanti in certi stadi del carcinoma alla prostata, come la progressione della malattia durante la fase di androgeno-independenza.
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MACCHI, CHIARA. "DEVELOPMENT AND PATHOPHYSIOLOGICAL CHARACTERIZATION OF AN IN VIVO MODEL OF IRON OVERLOAD ASSOCIATED TO INSULIN RESISTANCE AND REPRODUCTIVE IMPAIRMENT." Doctoral thesis, Università degli Studi di Milano, 2018. http://hdl.handle.net/2434/545620.
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Introduction. Iron is an essential micronutrient required for fundamental biochemical activities, such as oxygen and energy metabolism, mitochondrial function and brain development. However, it may catalyze the formation of highly reactive hydroxyl radicals, leading to oxidative stress, lipid peroxidation, and DNA damage with, finally, cell and tissue damages. Given its potential high toxicity, a condition of iron overload can promote multiple organ damages, associated to acute and chronic diseases. Among the several complications associated with iron overload syndromes, hypogonadism is the second most common endocrinopathy although the role of iron in its pathophysiology is still debated.
Aim. To explore in a dysmetabolic murine model, the molecular determinants of hypogonadism induced by iron overload, with a specific focus on hypothalamic derangement.
Material and methods. Male C57BL/6J mice fed standard iron concentration diet or iron-enriched diet (IED, 3% carbonyl-iron) and HFE-/- mice, these last resembling a murine model of human genetic hemochromatosis; cell-based models of gonadotropin-releasing hormone (GnRH) neurons (GN-11 and GT1-7 cell lines); radioimmunoassay (RIA); enzyme-linked immunosorbent assay (ELISA); histological analysis and immunostaining; image processing and quantitation; atomic absorption spectrometry; ATPliteTM 1step assay; Trypan Blue exclusion test; qRT-PCR; Boyden’s chamber assay; Western blot analysis.
Results. In vivo models. IED led to a hypogonadal phenotype as shown by micro- and macroscopic alterations at the testicular level. Iron accumulation in testes and pituitary significantly reduced serum levels of testosterone (-83%) and luteinizing hormone (-86%). Although, hypothalamic iron concentration did not differ in mice fed IED compared to controls, a significant increment in GnRH gene expression (+34%) and in intensity of GnRH-neuron innervation of the median eminence (+1.5-fold) were found; similar changes were obtained in HFE-/- mice. Hypothalamic gene expression of tumor necrosis factor α was increased in IED mice.
Moreover, a series of metabolic impairments, such as (i) increment in glycemia and Homeostatic Model Assessment of Insulin Resistance (HOMA-IR) index and (ii) reduction in body weight and fat as well as in plasma leptin was found upon IED.
In vitro models. Treatment of GN-11 and GT1-7 cells with ferric ammonium citrate, as a source of iron, significantly increased its intracellular concentration; as such, the genes involved in iron homeostasis were changed: transferrin receptor, -75%; ferritin H, +92%. Furthermore, GN-11 cell chemomigration was inhibited by iron overload with an apparent involvement of the extracellular signal-regulated kinase (ERK) 1/2 cell signaling pathway. Finally, iron overload induced oxidative stress in GN-11 cells.
Conclusions. In adult male mice, iron overload leads to a severe impairment of the hypothalamic-pituitary-gonadal axis possibly resulting in a hypogonadal condition, a feature possibly deriving from iron deposition in pituitary and/or gonads via extrahypothalamic mechanisms. This finding represents a further step in understanding how iron overload leads to this endocrinopathy. In this context, the use of in vitro GnRH neurons, which functions were impaired by iron accumulation, leaves open questions relative to the role of brain blood barrier in the protection of the central region (hypothalamus).
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OLIVEIRA, Danielle Lima de. "Avaliação das anormalidades do metabolismo mineral ósseo em pacientes portadores de lipodistrofia e HIV positivos." Universidade Federal do Pará, 2012. http://repositorio.ufpa.br/jspui/handle/2011/9198.
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Os avanços na terapia antirretroviral (TARV) suprimiram marcadamente a atividade virótica e aumentaram a longevidade daqueles que vivem com HIV/SIDA; entretanto, uma variedade de anormalidades metabólicas relacionadas ao tratamento foi descrita após a introdução da TARV combinada. Entre estas complicações, as alterações da densidade mineral óssea merecem destaque, não só por suas implicações em longo prazo, mas também pelos dados conflitantes disponíveis na literatura atualmente. OBJETIVO: avaliar as alterações das densidade mineral óssea, e correlacioná-las ao sexo, idade, índice de massa corpórea, tipos de lipodistrofia, níveis laboratoriais de cálcio sérico, paratormônio e vitamina D e perfil hormonal. METODOLOGIA: neste estudo transversal foram analisados 77 pacientes HIV positivos com síndrome lipodistrófica em tratamento com a terapia antirretroviral altamente ativa (TARV), e inscritos no ambulatório de lipodistrofia do Hospital Universitário João de Barros Barreto. O exame clínico dos pacientes envolveu a medida do peso, altura e circunferência abdominal. Os exames laboratoriais realizados incluíram a medida de cálcio sérico, vitamina D, paratormônio, estradiol (mulheres e homens), testosterona (homens). Os pacientes foram divididos em três grupos de acordo com a forma de lipodistrofia: mista, atrófica e hipertrófica. RESULTADOS: a maioria dos pacientes era do sexo masculino, e a forma de lipodistrofia predominante foi a mista. O tempo médio de infecção após o diagnóstico do HIV foi de 10,98±6,03 anos. A prevalência de osteopenia foi 61,03% e osteoporose foi 25,97%. Os pacientes do sexo masculino apresentaram com maior freqüência osteoporose em colo femoral e as pacientes do sexo feminino, em coluna lombar. A osteoporose em coluna lombar foi mais prevalente na forma mista de lipodistrofia e em colo femoral e demonstrou ser semelhante entre as formas mistas e atrófica de lipodistrofia. E a frequência de osteoporose ocorreu em todas as sequências de idade no sexo masculino, sendo no feminino apenas após os 50 anos. CONCLUSÃO: a prevalência de osteoporose aumenta de acordo com a idade no sexo feminino. Não houve associação entre DMO e a forma de lipodistrofia.
The advances in antirretroviral therapy (HAART) markedly suppressed viral activity and increased longevity of those living with HIV / AIDS, however, a variety of metabolic abnormalities related to treatment was reported after the introduction of HAART combined among these complications, changes in bone mineral density arouse special attention, not only for its long-term implications, but also by the conflicting data available in the literature. OBJECTIVES: to evaluate changes in bone mineral density, and correlate them with sex, age, body mass index body, types of lipodystrophy, laboratory levels of serum calcium, parathyroid hormone and vitamin D and hormonal profile. METHODS: in this cross-sectional study 77 HIV patients with lipodystrophy syndrome treated with highly active antirretroviral therapy (HAART), and enrolled in the clinic lipodystrophy of the João de Barros Barreto University Hospital. The clinical examination of patients involved the measurement of weight, height and waist circumference. Laboratory tests performed included measurement of serum calcium, vitamin D, parathyroid hormone, estradiol, testosterone.Patients were divided into three groups according to the form of lipodystrophy: mixed, atrophic and hypertrophic. RESULTS: most patients were male, and the predominant form of lipodystrophy was mixed form. The mean time of infection after HIV diagnosis was 10.98 ± 6.03 years. The prevalence of osteopenia was 61.03% and osteoporosis was 25.97%. The male patients presented more frequently osteoporosis in femoral neck and the female patients in the lumbar spine. Osteoporosis in the lumbar spine was more prevalent in the mixed form of lipodystrophy and the femoral neck and shown to be similar between the atrophic and mixed forms of lipodystrophy. And the frequency of osteoporosis was present in all sequences of age in males and in females only after 50 years. CONCLUSIONS: the prevalence of osteoporosis increases with age in females. There was no association between BMD and the form of lipodystrophy.
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OIKAWA, Teiichi. "Hormônios tireoidianos, anti-TPO e concentrações de mercúrio total na avaliação da disfunção glandular em população ribeirinha da Amazônia." Universidade Federal do Pará, 2015. http://repositorio.ufpa.br/jspui/handle/2011/9079.
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Há evidências que o acúmulo de mercúrio na tireóide pode causar distúrbios endócrinos e imunes. Populações ribeirinhas da Amazônia com histórico de exposição prolongada ao mercúrio têm sido investigadas para danos neurológicos, porém, pouco se conhece sobre os distúrbios hormonais e imunes específicos da tireóide. O objetivo deste estudo foi verificar a associação das concentrações de HgT em amostras de cabelo com as concentrações dos hormônios tireoidianos e com a titulação do anticorpo anti-TPO. O estudo incluiu 86 ribeirinhos do Tapajós com exposição em longo prazo ao mercúrio. Participaram homens e mulheres com idade entre 14 e 54 anos, residentes no local por mais de cinco anos. As concentrações hormonais no soro (TSH, T3 e T4 livre) e os títulos de Anti-TPO foram obtidas através de método imunoenzimático. Mercúrio total (HgT) em amostras de cabelo foi medido pela espectrofotometria de absorção atômica usando o Mercury Analyzer SP3D da Nippon Corporation. Disfunções hormonais ocorreram em 10,3% com aumento de T3, 2,3% com redução de T4L, 3,4% de redução de TSH e 4,6% com aumento de TSH que expressou o máximo valor de 8,9 μU/m. Títulos de Anti-TPO foram normais em todos os participantes. Não houve correlação dos marcadores hormonais (TSH, T3 e T4L) nem do Anti-TPO com os níveis de mercúrio. Os resultados mostraram que as concentrações de HgT em cabelo, de TSH no soro e os títulos de Anti-TPO não foram influenciados pelo sexo; que os níveis dos hormônios tireoidianos e os títulos de Anti_TPO não mostraram associação com os níveis de HgT sugerindo a interferência de fatores protetores na função tireoidiana.
There is evidence that mercury accumulation in the thyroid can cause endocrine and immune disorders. Riverside populations of the Amazon with a history of prolonged exposure to mercury have been investigated for neurological damage, but little is known about the hormonal disorders and specific immune thyroid. The objective of this study is to verify the existence of association between the total mercury concentrations in hair samples and concentrations of thyroid hormones and the anti-TPO antibody. The study included 86 riverine from Tapajos region mercury exposed to long-term. Participated this study men and women aged between 14 and 54 years, residents in place for more than five years. Measurements of serum hormone concentrations (TSH, T3 and free T4) and Anti-TPO titles were taken by enzyme immunoassay. Total mercury (THg) in hair samples was measured by atomic absorption spectrophotometry by cold vapor technique. Hormonal dysfunction occurred in 10.3% with an increase of T3, 2.3% with a reduction of T4L, 3.4% decrease in TSH and 4.6% with increased TSH expressed that the maximum value of 8.9 μU/m. Anti-TPO titles were normal in all participants. There was no correlation of hormonal markers (TSH, T3 and T4L) or the Anti-TPO with mercury levels. The results showed that THg concentrations in hair, serum TSH and anti-TPO titles were not influenced by sex; that hormonal changes in thyroid studied riparian not associated with the levels of THg suggesting the interference of protector factors on thyroid function.
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Smiraglia, M. "IMPATTO CLINICO DELLA METODICA DEL CONTEGGIO DEI CARBOIDRATI IN SOGGETTI AFFETTI DA DM1 NELLA REAL LIFE: FOLLOW-UP A 2 DUE ANNI." Doctoral thesis, Università degli Studi di Milano, 2015. http://hdl.handle.net/2434/346263.
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IMPATTO CLINICO DEL COUNTING DEI CARBOIDRATI IN SOGGETTI AFFETTI DA DM1 NELLA REAL LIFE: FOLLOW-UP A 2 DUE ANNI
INTRODUZIONE: il counting dei carboidrati (CHO) è la strategia nutrizionale raccomandata per il miglioramento del controllo glicometabolico in pazienti con DM1. L’aumentata flessibilità alimentare raggiunta dai chi applica tale metodica a lungo termine può incidere negativamente sulla qualità dello stile alimentare.
SCOPO: Valutare l’impatto del CHO-counting sul compenso glicemico, sulla composizione corporea e sullo stile alimentare in soggetti con DM1 in un follow-up di 24 mesi (T24).
METODI: 51 soggetti con DM1 (30F/21M; età 36.2±9.8) sono stati randomizzati nel gruppo di intervento counting (n=25, educati alla pratica del conteggio) e nel gruppo di controllo (n=26, non educati a tale metodica). Livello di HbA1c, Fabbisogno Insulinico Giornaliero (FIG), indici di variabilità glicemica (HBGI, LBGI), % di glicemie postprandiali a target (%PPG), BMI, massa grassa (FM) e dati nutrizionali [intake di zuccheri semplici (s-CHO), grassi saturi (SF), colesterolo, fibra, proteine di origine vegetale (VP)] sono stati valutati tra i 2 gruppi al basale (T0) e al T24.
RISULTATI: Al T0 i 2 gruppi erano comparabili. Rispetto ai controlli, al T24 i soggetti del gruppo counting hanno mostrato una riduzione significativa del livello di HbA1c (controlli vs counters: +0.53±0.81 vs -0.65±0.54; p<0.01) della FM (+1.81±3.91 vs -2.45±4.54; p<0.01) e del BMI (+0.58±1.48 vs -0.30±1.32; p=0.03); hanno mostrato anche un aumento della %PPG a target (-2.49±11.84 vs +13.85±13.06; p<0.01) e una tendenza alla riduzione di FIG, HBGI e LBGI. Dal punto di vista nutrizionale questi soggetti hanno ridotto in modo significativo (p<0.01) l’intake di s-CHO (+10.31% vs -11.59%), colesterolo (+2,10% vs -30,08%) e SF (+9.63% vs -17.64%) e aumentato significativamente (p<0.01) il consumo di fibra (-8.59% vs +50.43%) e VP (-10.63% vs +30.19%).
CONCLUSIONI: Il counting si è dimostrato efficace nel raggiungere e mantenere un miglior controllo glicemico. I soggetti che applicano tale metodica, ponendo attenzione ai CHO presenti negli alimenti, a lungo termine aumentano anche la sensibilità verso altri aspetti nutrizionali fondamentali per il miglioramento dello stile alimentare.CLINICAL IMPACT OF CARBOHYDRATE COUNTING IN PATIENTS WITH TYPE 1 DIABETES IN REAL LIFE: A 2-YEAR FOLLOW-UP STUDY BACKGROUND: Carbohydrate (CHO) counting is the recommended dietary strategy to achieve glycemic control in patients with type 1 diabetes (T1DM). It is based on the premise that, of all the macronutrients, CHO has the most significant impact in raising the postprandial blood glucose levels. CHO-counting assumes a linear correlation between the CHO intake and the mealtime insulin dose and it allows food flexibility but, in the long-term, it may promote weight gain and unhealthy dietary habits. AIMS: To evaluate, in real-life condition, the impact of CHO-counting method on glycemic control, glucose variability, anthropometric measurement, and dietary variables in patients with T1DM in a 2-year follow-up study. MATERIALS AND METHODS: 51 adult patients (30F/21M, aged 36.2±9.8 years), treated with continuous subcutaneous insulin infusion or multiple daily injections, were randomly assigned to an intervention group (25 patients, trained on the CHO-counting method) and to a control group (26 patients who received standard medical care). HbA1c levels, total daily dose of insulin, high and low blood glucose index (HBGI, LBGI), postprandial glucose levels in target, BMI, fat mass (FM), simple CHO (s-CHO), cholesterol, saturated fats (SF), fiber and vegetable protein (VP) dietary intake were compared among groups at baseline and after 24 months (T24). RESULTS: The two groups were comparable at baseline. Compared to the control group, at T24 the counting group showed a significant increase of postprandial glucose levels in target (controls vs counters: -2.49±11.84 vs +13.85±13.06; p<0.01) and a significant reduction of HbA1c levels (+0.53±0.81 vs -0.65±0.54; p<0.01), FM (+1.81±3.91 vs -2.45±4.54; p<0.01) and BMI (+0.58±1.48 vs -0.30±1.32; p=0.03). Total daily dose of insulin, HBGI and LBGI were slightly but not significantly decreased. Compared to the control subjects, the patients who used the CHO-counting method significantly reduced s-CHO (respectively, +10.31% vs -11.59%; p<0.01), cholesterol (+2,10% vs -30,08%), and SF (+9.63% vs -17.64%; p<0.01) dietary intake; they also significantly increased fiber (-8.59% vs +50.43%; p<0.01) and VP (-10.63% vs +30.19%; p<0.01) dietary intake. CONCLUSION: In adult patients with T1DM, CHO-counting improves glycemic control, anthropometric parameters, and body composition and it decreases glucose variability. This meal-planning method also represents a nutritional education program that leads to a healthy dietary lifestyle.
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Cruz, Juliana de Barros [UNESP]. "Estudo clínico e molecular de pacientes com displasia septo-ótica ou deficiência hormonal hipofisária (gene HESX1 e PROP1)." Universidade Estadual Paulista (UNESP), 2008. http://hdl.handle.net/11449/92111.
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A hipófise anterior compõe-se de cinco tipos celulares que são definidos pelos hormônios que secretam. A diferenciação desses tipos celulares resulta de uma cascata temporalmente regulada de fatores transcricionais expressos no tecido hipofisário. Mutações de um desses fatores podem resultar tanto em defeitos estruturais da glândula como em deficiências hormonais, que podem ser isoladas (Déficit de hormônio do crescimento - DGH) ou combinadas (DHHC), dependendo do papel do fator transcricional mutado. A Displasia Septo – óptica (DSO) caracteriza-se pela presença de hipoplasia hipofisária, hipoplasia de nervo óptico e/ou má formações de estruturas da linha média. Foram avaliados 11 pacientes com quadro clinico de SOD, DGH e DHHC e realizado o sequenciamento genético do gene HESX1 desses indivíduos. Nos casos de DHHC foi feita uma análise adicional do gene PROP1. A mutação missense em estado de heterozigose A1772G levando a substituição N125S foi identificada em um paciente portador de DSO, no gene HESX1. Essa troca já foi previamente relatada como um polimorfismo na população Afro-Caribenha. Encontramos três pacientes portadores da variante alélica A9A e N20S no exon 1 do gene PROP1, já descritos previamente na literatura como polimorfismos.
The anterior pituitary is made of five types of cell defined according to the hormones they secrete. Differentiation among such cell types derives from a cascade of temporally regulated transcriptional factors expressed in the pituitary tissue. Mutation in one of these factors may result in both structural gland defects and hormonal deficiencies, which may be either isolated (DGH – Growth Hormone Deficiency) or combined, depending on the role of the mutated transcriptional factor. Septo-optic dysplasia (SOD) is characterized by pituitary hypoplasia, optic nerve hypoplasia and/or malformation of medium line structures. Eleven patients with a clinical state of SOD, DGH and CPHD were assessed, and genetically sequenced for the HESX1 gene. For CPHD cases, an additional analysis for the PROP1 gene was also conducted. One SOD patient was found to have a missense mutation in A1772G heterozygosis state, leading to the N125S replacement, in HESX1 gene. Such replacement has already been reported as a polymorphism in the Afro-Caribbean population. We found three patients with the alelic variation A9S and N20A in exon 1 of PROP1 gene, previously described as polymorphisms.
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Lira, Eduardo Carvalho. "Efeito anticatabólico dos derivados de xantina no metabolismo de proteínas em músculos esqueléticos de ratos sépticos: um estudo de microdiálise." Faculdade de Medicina de São José do Rio Preto, 2006. http://bdtd.famerp.br/handle/tede/223.
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Previous issue date: 2006-04-20Introduction: The aim of the present study was to estimate the anticatabolic effect of xanthine derivatives on skeletal muscle protein metabolism from septic rats by using microdialysis. Methods: Sepsis was induced by cecal ligation and puncture (CLP). After 3, 6 and 10 hours of surgery, male Wistar rats (~250g) were anesthetized with thionembutal sodium (50mg/Kg body weight i.p.) and placed on heating pads to maintain adequate temperature (37oC). Microdialysis probe was inserted in the anterior tibial muscle and an equilibration period of 30 minutes was allowed. After connecting the catheter inlet to a microinjection pump, the system was perfused with 0,5% bovine serum albumin, 50 μM tyrosine and 1 mmol/l glucose in isotonic saline at a rate of 1.0 μl/min. Samples of the skeletal muscle interstitial fluid and arterial plasma from carotid artery were collected after 90 minutes of experiment and tyrosine was measured by fluorescence. The interstitial tyrosine concentration was estimated from the dialysate concentration. To calibrate catheters in vivo the internal reference calibration technique was used. The muscle blood flow was estimated by ethanol technique. Overall proteolysis was investigated in extensor digitorus longus (EDL) muscles from sham-operated and 3-hour septic rats (~70g) incubated in the presence or not of IBMX (1mM). Results: In sham-operated and septic rats, skeletal muscle interstitial tyrosine levels (μM) were significantly higher than arterial plasma tyrosine. Three-hour septic rats showed a 33% decrease in muscle blood flow and a 128% increase in the concentration of tyrosine in skeletal muscle interstitial (235 ± 16, n=10), when compared to sham-operated rats (95,5 ± 5,5, n=10). Interstitial (I) minus arterial (A) plasma tyrosine concentrations difference was also significantly increased after 3 hours of sepsis (117 ± 7 vs. 31 ± 6 in sham-operated, n=10). Pentoxifylline (PTX; 50mg/Kg body weigh, e.v.) treatment, during 1 hour immediately after CLP, reduced in 25% and 50% the interstitial tyrosine concentration and I-A difference, respectively. In situ isobutylmethylxanthine (IBMX; 1mM), but not PTX, reduced the interstitial tyrosine concentration (30-46%) and I-A difference (43-48%) in both groups. The increase of proteolysis induced by sepsis in EDL muscles was abolished by in vitro addition of IBMX (1mM). Conclusions: The data show that: (1) microdialysis is a perfectly adapted tool to investigate in vivo regulation of muscle protein metabolism during acute catabolic states; (2) the catabolic effect of sepsis on rat skeletal muscle protein metabolism in vivo can be observed 3 hours after CLP; (3) the xanthine derivatives reduce the muscle protein catabolism induced by sepsis in rats.
Objetivo: investigar o efeito anticatabólico dos derivados de xantinas no metabolismo de proteínas de ratos sépticos utilizando a técnica de microdiálise. Materiais e métodos: Ratos machos Wistar (~250g) foram anestesiados com tiopental (50mg/Kg, i.p.) e mantidos em mesa cirúrgica aquecida (37°C). A sepse foi induzida pela ligadura e punção do ceco (CLP) e os músculos estudados após 3, 6 e 10 horas da cirurgia. O cateter de microdiálise foi inserido no tibial anterior, o qual foi perfundido a um fluxo constante de 1,0μl/min com solução salina enriquecida com albumina bovina (0,5%), 50 μM de tirosina fria, 1 mmol/l de glicose e [14C]-tirosina. A tirosina foi quantificada por fluorescência no dialisado, sangue arterial e solução de perfusão, após 90 minutos de microdiálise. O cateter foi calibrado in situ pela técnica da referencia interna. O Fluxo Sanguíneo Muscular (FSM) foi avaliado pela técnica do clearance de etanol. A proteólise foi quantificada no extensor digitorus longus (EDL) de ratos (~70g) sham ou sépticos por meio da liberação de tirosina in vitro. Resultados: A concentração intersticial de tirosina foi sempre maior que a concentração arterial. A sepse de 3 horas reduziu em 33% o FSM e aumentou em 127% a concentração intersticial de tirosina (235 ± 16, n=10) em relação ao sham (95 ± 5, n=10). A diferença I-A também foi maior no grupo séptico (117 ± 16 vs. 31 ± 6 no sham, n=10). A infusão sistêmica da pentoxifilina (PTX; 50mg/Kg, e.v.), durante a primeira hora pós-CLP, reduziu em 25% e 50% a concentração intersticial e a diferença I-A de tirosina, respectivamente. O tratamento in situ com isobutil-metil-xantina (IBMX; 1mM), mas não com PTX, reduziu a concentração intersticial (30-46%) e a diferença I-A (43-48%) de tirosina, em ambos os grupos. O aumento da proteólise muscular induzido pela sepse foi abolido pela ação in vitro da IBMX (1mM) que reduziu a proteólise em 41%. Conclusões: os resultados mostram que: (1) a microdiálise é uma técnica perfeitamente adaptada ao estudo do metabolismo de proteínas em situações catabólicas; (2) o modelo da CLP de 3 horas ativa o catabolismo de proteínas em músculos esqueléticos de ratos; (3) As ações sistêmicas, in situ e in vitro dos derivados de xantinas reduzem o catabolismo de proteínas em músculos de ratos sépticos.
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Mendes, Cristiani Cortez. "Associação entre polimorfismos em genes envolvidos no metabolismo do folato e risco materno para a síndrome de Down." Faculdade de Medicina de São José do Rio Preto, 2011. http://bdtd.famerp.br/handle/tede/103.
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Previous issue date: 2011-08-05Down syndrome is the most common genetic disorder and, in about 90% of the cases, is characterized by free trisomy of chromosome 21, caused by the failures of chromosomal segregation during maternal meiosis. Studies suggested that the occurrence of DS independent of maternal age is associated with DNA hypomethylation due to impairments in folate metabolism, and genetics polymorphisms involved in this metabolic pathway have been appointed as maternal risk factors for DS. Addition to the genetic polymorphisms, micronutrients deficiencies, as folate and B12 vitamin, can change the products of the folate pathway and result in DNA hypomethylation, genomic instability and reduced DNA repair capacity. Objectives: We evaluated the influence of the 19-base pairs (bp) deletion polymorphism of Dihydrofolate reductase (DHFR) gene, DNA methyltransferase 3B (DNMT3B) -149C→T and -283T→C on the maternal risk for DS and investigated the association between these polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and methylmalonic acid (MMA). Methods: 105 mothers of DS individuals with free trisomy 21 and 185 mothers of individuals without the syndrome were studied. Molecular analysis of the DHFR polymorphism was performed by the Polymerase Chain Reaction (PCR) by difference in the size of fragments and DNMT3B -149C→T and -283T→C were analyzed by real-time PCR. Folate was quantified by chemiluminescence and Hcy and MMA by liquid chromatography-tandem mass spectrometry. Results: The analysis of DHFR polymorphism showed no difference between the groups in relation to allele and genotype frequencies (P = 0.44; P = 0.69, respectively). In relation to gentoype, folate, Hcy and MMA concentrations did not differ between the groups (P > 0.05). The DNMT3B -149TT/-283TC combined genotypes were associated with increased maternal risk for DS (OR = 4.61, CI 95% = 1.35 15.79; P = 0.02) and higher folate concentration was observed in mothers with DNMT3B -149CT/-283CC genotypes compared to other combined genotypes (P = 0.03). Conclusions: The 19-bp deletion polymorphism of DHFR gene is not a maternal risk factor for DS and is not related to variations in the concentrations of serum folate and plasma Hcy and MMA. On the other hand, the DNMT3B polymorphisms increase the maternal risk for DS and modulate the folate concentration in studied population.
A síndrome de Down (SD) é a cromossomopatia humana mais frequente e, na maioria dos casos (cerca de 90%), é caracterizada pela trissomia livre do cromossomo 21, resultante de falhas na segregação cromossômica durante a meiose materna. Estudos sugerem que a ocorrência da SD independente da idade materna está relacionada à hipometilação do DNA centromérico como conseqüência do metabolismo anormal do folato e, polimorfismos genéticos envolvidos nesta via metabólica têm sido apontados como fatores de risco materno para a síndrome. Além dos polimorfismos genéticos, deficiências de micronutrientes, tais como folato e vitamina B12, podem alterar os produtos resultantes da via metabólica do folato e resultar em hipometilação do DNA, instabilidade genômica e redução da capacidade de reparo do DNA. Objetivos: Avaliar a influência dos polimorfismos de deleção de 19 pares de base (pb) do gene Dihidrofolato redutase (DHFR), DNA metiltransferase 3B (DNMT3B) -149C→T e -283T→C como fatores de risco materno para a SD e investigar a associação entre esses polimorfismos e as concentrações de folato sérico, homocisteína (Hcy) e ácido metilmalônico (MMA) plasmáticos. Casuística e Métodos: Foram incluídas no estudo 105 mães de indivíduos com trissomia livre do cromossomo 21 e 185 mães de indivíduos sem a síndrome. O polimorfismo do gene DHFR foi avaliado por meio da Reação em Cadeia da Polimerase (PCR) por diferença de tamanho de fragmentos e os polimorfismos DNMT3B -149C→T e -283T→C foram analisados por PCR em tempo real. O folato sérico foi quantificado por quimioluminescência, e Hcy e MMA plasmáticos foram determinados por cromatografia líquida/espectrometria de massas sequencial. Resultados: Em relação ao polimorfismo de deleção do gene DHFR, não houve diferença entre os grupos em relação às frequências alélica e genotípica (P = 0,44; P = 0,69, respectivamente) e as concentrações de folato, Hcy e MMA não mostraram diferença significativa entre os genótipos, entre grupos (P > 0,05). Os genótipos combinados DNMT3B -149TT/-283TC foram associados com o aumento do risco materno para a SD (OR = 4,61, IC 95% = 1,35 15,79; P = 0,02) e, concentração de folato aumentada foi observada em mães com os genótipos DNMT3B -149CT/-283CC quando comparados com os demais genótipos combinados (P = 0,03). Conclusões: O polimorfismo de deleção de 19 pb do gene DHFR não é um fator de risco materno para SD e não está relacionado com variações nas concentrações de folato sérico, Hcy e MMA plasmáticos. Por outro lado, os polimorfismos do gene DNMT3B aumentam o risco materno para a SD e modulam a concentração de folato na população estudada.
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Funes, Fernanda Ribeiro. "Complicações da derivação portossistêmica transjugular intra-hepática (TIPS) na hemorragia digestiva por hipertensão portal: experiência de 12 anos." Faculdade de Medicina de São José do Rio Preto, 2011. http://bdtd.famerp.br/handle/tede/187.
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Previous issue date: 2011-12-15Introduction: The transjugular intrahepatic portosystemic shunt (TIPS) is a non-surgical treatment option with low morbidity and mortality, can be realized in patients with severe hepatic dysfunction, minimally invasive surgery that aims to decompress the portal system treating or reducing the complications portal hypertension. Objective: To analyze survival, and overall early mortality related to the etiology of the disease, characterization of the procedure in the emergency or elective and Child-Pugh and MELD classification and analyze the complications presented by patients. Methods: A retrospective study in the database of medical records of patients with cirrhosis who underwent TIPS for treatment of gastrointestinal bleeding due to portal hypertension who have not responded to medical treatment and endoscopic treatment from 1998 to 2010 in the Department of Liver Transplantation, Hospital de Base and Faculty Medicine of Sao Jose do Rio Preto. To check the rate of mortality, survival and complications were excluded patients who have failed the technical procedure and the others were followed until the closure of the study, performing a liver transplant or death occurred. The study was approved by the Ethics and Research Committee. Results: The sample consisted of 72 (84.7%) patients who were successful in the procedure of which 57 (79.2%) were male, mean age 47.4 years (between 16 and 85 years, SD=13), 21(29.2%) patients had a cause excessive consumption of alcohol, 21(29.2%) to contamination by hepatitis virus, 16(22.2%) excessive alcohol consumption associated with virus and 14(19.4%) patients had other causes. Procedure was performed on an emergency basis in 37(51.4%) and electively in 35(48.6%). The initial classification, 14 (20%) had Child-Pugh A, 33 (47.1%) Child-Pugh B and 23 (32.9%) Child-Pugh C. MELD was initially obtained in 68 patients, 37 (54.4%) with more than 15 points, while 31 (45.6%) up to 15 points. Early death occurred in 19 (26.4%). Overall mortality occurred in 41(60.3%). Conclusion: There was no difference regarding the etiology of early mortality, mortality and survival and overall mortality rate of patients undergoing emergency TIPS in characterization compared with elective TIPS. Difference was observed between the groups of patients undergoing emergency TIPS in characterizing compared to elective TIPS in early mortality rate, death is higher in emergency TIPS. Regarding the classification of Child-Pugh and MELD higher overall mortality was observed in patients early and Child-Pugh class C and MELD> 15, and shorter survival in this group of patients. Complications were similar to those described in the literature, but the percentage of occurrence of stent dysfunction (26,4%) was lower than in most studies the incidence of encephalopathy (58,3%) was higher.
Introdução: A derivação portossistêmica transjugular intra-hepática (TIPS) é uma opção de tratamento não cirúrgica com baixo índice de morbimortalidade e com possibilidade de realização em pacientes com disfunção hepática grave, por ser minimamente invasiva e que visa descomprimir o sistema porta tratando ou reduzindo as complicações da hipertensão portal. Objetivo: Analisar a sobrevida, mortalidade precoce e global relacionada à etiologia da doença, caracterização do procedimento em urgência ou eletiva e classificações de Child-Pugh e MELD e analisar as complicações apresentadas pelos pacientes. Casuística e Métodos: Estudo retrospectivo baseado no banco de dados dos prontuários dos pacientes cirróticos submetidos a TIPS para tratamento da hemorragia digestiva por hipertensão portal que não responderam ao tratamento clínico endoscópico e atendidos no período de 1998 a 2010 no Serviço de Transplante de Fígado do Hospital de Base e Faculdade de Medicina São José do Rio Preto. Para verificação da taxa de mortalidade, sobrevida e complicações os pacientes seguidos até o fechamento do estudo, realização de transplante de fígado ou ocorrência de óbito. O estudo foi aprovado pelo Comitê de Ética e Pesquisa. Resultados: A amostra foi composta de 72(84,7%) pacientes que obtiveram êxito no procedimento sendo 57(79,2%) do sexo masculino, idade média de 47,4 anos (entre 16 e 85 anos e DP=13), 21(29,2%) pacientes apresentaram como causa o consumo excessivo de álcool; 21(29,2%) a contaminação por vírus da hepatite, 16 (22,2%) o consumo excessivo de álcool associado a vírus e 14 (19,4%) pacientes apresentaram outras causas. Procedimento foi realizado em caráter de urgência em 37(51,4%) e de forma eletiva em 35 (48,6%). Quanto à classificação inicial, 14(20%) tinham Child-Pugh A, 33(47,1%) Child-Pugh B e 23(32,9%) Child-Pugh C. MELD inicial foi obtido em 68 pacientes sendo 37 (54,4%) com mais de 15 pontos, enquanto 31(45,6%) tiveram até 15 pontos. Óbito precoce ocorreu em 19(26,4%). Mortalidade global ocorreu em 41 (60,3%). Conclusão: Não houve diferença da etiologia com relação à mortalidade precoce, mortalidade global e sobrevida e na taxa de mortalidade global dos pacientes submetidos a TIPS de urgência comparados a TIPS eletivo. Observou-se diferença entre os grupos de pacientes submetidos a TIPS de urgência comparados a TIPS eletivo na taxa de mortalidade precoce, sendo o óbito maior no TIPS de urgência. Com relação as classificações de Child-Pugh e MELD foi observado maior mortalidade global e precoce nos pacientes Child-Pugh classe C e MELD >15, e menor sobrevida nesse grupo de pacientes. As complicações encontradas foram semelhantes às descritas na literatura, porém a porcentagem da ocorrência de disfunção do stent (26,4%) foi menor que na maioria dos estudos e a incidência de encefalopatia (58,3%) foi superior.
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Cruz, Juliana de Barros. "Estudo clínico e molecular de pacientes com displasia septo-ótica ou deficiência hormonal hipofisária (gene HESX1 e PROP1) /." Botucatu : [s.n.], 2008. http://hdl.handle.net/11449/92111.
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Resumo: A hipófise anterior compõe-se de cinco tipos celulares que são definidos pelos hormônios que secretam. A diferenciação desses tipos celulares resulta de uma cascata temporalmente regulada de fatores transcricionais expressos no tecido hipofisário. Mutações de um desses fatores podem resultar tanto em defeitos estruturais da glândula como em deficiências hormonais, que podem ser isoladas (Déficit de hormônio do crescimento - DGH) ou combinadas (DHHC), dependendo do papel do fator transcricional mutado. A Displasia Septo - óptica (DSO) caracteriza-se pela presença de hipoplasia hipofisária, hipoplasia de nervo óptico e/ou má formações de estruturas da linha média. Foram avaliados 11 pacientes com quadro clinico de SOD, DGH e DHHC e realizado o sequenciamento genético do gene HESX1 desses indivíduos. Nos casos de DHHC foi feita uma análise adicional do gene PROP1. A mutação missense em estado de heterozigose A1772G levando a substituição N125S foi identificada em um paciente portador de DSO, no gene HESX1. Essa troca já foi previamente relatada como um polimorfismo na população Afro-Caribenha. Encontramos três pacientes portadores da variante alélica A9A e N20S no exon 1 do gene PROP1, já descritos previamente na literatura como polimorfismos.Abstract: The anterior pituitary is made of five types of cell defined according to the hormones they secrete. Differentiation among such cell types derives from a cascade of temporally regulated transcriptional factors expressed in the pituitary tissue. Mutation in one of these factors may result in both structural gland defects and hormonal deficiencies, which may be either isolated (DGH - Growth Hormone Deficiency) or combined, depending on the role of the mutated transcriptional factor. Septo-optic dysplasia (SOD) is characterized by pituitary hypoplasia, optic nerve hypoplasia and/or malformation of medium line structures. Eleven patients with a clinical state of SOD, DGH and CPHD were assessed, and genetically sequenced for the HESX1 gene. For CPHD cases, an additional analysis for the PROP1 gene was also conducted. One SOD patient was found to have a missense mutation in A1772G heterozygosis state, leading to the N125S replacement, in HESX1 gene. Such replacement has already been reported as a polymorphism in the Afro-Caribbean population. We found three patients with the alelic variation A9S and N20A in exon 1 of PROP1 gene, previously described as polymorphisms.
Orientador: Célia Regina Nogueira
Coorientador: Denise Perone
Mestre
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Paizan, Mara Lucia Macedo. "Aspectos que influenciam na procura da atenção básica para o diagnóstico da tuberculose." Faculdade de Medicina de São José do Rio Preto, 2010. http://bdtd.famerp.br/handle/tede/92.
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Previous issue date: 2010-11-05Analyze the socio-demographic profile and the organization of health services as the primary gateway to the tuberculosis diagnosis. Methods: This is an exploratory descriptive study, conducted from a quantitative approach, with patients living in the city of Sao Jose do Rio Preto in 2009. A structured questionnaire that follows the reference of the Primary Care Assessment Tool for tuberculosis care was used, focusing on issues related to socio-demographic information and the gateway size. The data analysis was performed by means of frequency distribution and chi-square test for proportions and analysis of residuals. Results: The first health service sought after onset of symptoms was the Emergency Care, followed by Primary Health Care. Regarding the variables of gateway size there was a strong association between patients who sought the services closer to his home to the onset of signs and symptoms of tuberculosis and looked for the Primary Health Care and those who sought the services further away and went directly to the specialist services. Also was found between patients who were no preventive control of health and the search for Emergency Care. Conclusions: The main gateway to the respiratory symptoms is not Primary Health Care as recommended by the National Tuberculosis Control but the Emergency Care.
Analisar o perfil sócio-demográfico e a organização dos serviços de saúde da Atenção Básica como porta de entrada para o diagnóstico da Tuberculose. Método: Trata-se de um estudo descritivo exploratório, realizado a partir de uma abordagem quantitativa, com doentes residentes no município de São José do Rio Preto-SP em 2009. Utilizou-se o questionário estruturado que segue o referencial do Primary Care Assessment Tool, por meio do qual foram enfocadas questões relativas às informações sócio-demográficas e a dimensão porta de entrada. A análise dos dados foi realizada por meio da distribuição de frequência e do teste Qui-quadrado para proporções com análise de resíduo. Resultados: O primeiro serviço de saúde procurado após o início dos sintomas foi o Pronto Atendimento, seguido pela Atenção Básica. Em relação às variáveis da dimensão porta de entrada, verificou-se associação entre doentes que buscaram os serviços mais próximos de seu domicilio ao início dos sinais e sintomas da tuberculose, e procuraram pela Atenção Básica. Também houve associação estatística entre doentes que não faziam controle preventivo de saúde e a procura pelo Pronto Atendimento. Conclusões: A principal porta de entrada para os sintomáticos respiratórios não está sendo a Atenção Básica conforme preconizado pelo Programa Nacional de Controle da Tuberculose, e sim o Pronto Atendimento.
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PINTO, Carlliane Lima e. Lins. "Avaliação dos picos de hormônio do crescimento nos testes de estímulo com insulina e clonidina em pacientes com diagnóstico de baixa estatura." Universidade Federal do Pará, 2016. http://repositorio.ufpa.br/jspui/handle/2011/8673.
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A baixa estatura (BE) é uma importante causa de encaminhamento para avaliação na endocrinologia pediátrica. A deficiência do hormônio do crescimento (DGH) precisa ser considerada quando outras causas de BE são excluídas, porém há limitações quanto ao estabelecimento de seu diagnóstico definitivo, sendo assunto de vários debates e controvérsias. Apesar de muito questionados, os testes de estímulo de GH ainda são considerados o padrão para a confirmação diagnóstica de DGH. O presente estudo objetivou avaliar a sensibilidade, especificidade e acurácia dos diferentes pontos de corte de pico de GH utilizados para o diagnóstico de DGH, sob o estímulo do teste de tolerância à insulina (TTI) e do teste da clonidina, além de identificar o melhor nivel de pico de GH para confirmar o diagnóstico por meio da abordagem da curva ROC (Receiver Operating Characteristics). Para este fim, foi realizado um estudo retrospectivo e de caráter observacional, a partir da coleta de dados clínicos e laboratoriais de 62 pacientes do serviço de endocrinologia do Hospital Universitário João de Barros Barreto (HUJBB). O padrão-ouro considerado para análise de desempenho dos pontos de corte em ambos os testes de estímulo de GH foi a resposta terapêutica. Assim, 26 pacientes que obtiveram acréscimo de altura de pelo menos 0,3 desvio-padrão ao final de um ano de tratamento com o GH recombinante humano (rhGH) foram classificados como DGH. Os pacientes que não obtiveram esse ganho foram classificados como não-DGH. Ambos os grupos partiram de estaturas médias semelhantes (p = 0,8155) e obtiverem ganho de estatura ao final do acompanhamento, porém esse ganho foi maior no grupo DGH em comparação ao não-DGH (20,5 ± 14,8 cm vs. 9,2 ± 6,7 cm, respectivamente; p = 0,0064). O grupo DGH apresentou pico mediano de GH significativamente menor em relação ao grupo não-DGH em ambos os testes (p < 0,0001). Foram definidas sensibilidade, especificidade e acurácia dos pontos de corte 3, 5, 7 e 10 ng/mL no TTI e no teste da clonidina, não sendo observada superioridade de um teste sobre o outro. Adicionalmente, foram encontrados os pontos de corte 7,92 ng/mL e 6,78 ng/mL para o TTI e teste da clonidina, respectivamente, a partir da construção da curva ROC, representando os níveis de pico de GH mais sensíveis e específicos para o diagnóstico de DGH. Concluímos que os pontos de corte encontrados neste estudo poderão representar uma ferramenta emergente na seleção de pacientes que provavelmente se beneficiariam do tratamento com rhGH, sendo eles DGH por uma causa conhecida ou mesmo DGHI.
Short stature (SS) is an important referral cause for evaluation in pediatric endocrinology. Growth hormone deficiency (GHD) needs to be considered when other causes of BE are excluded, but there are limitations in establishing its definitive diagnosis, being the subject of several debates and controversies. Although highly questioned, GH stimulation tests are still considered the standard for the diagnostic confirmation of GHD. The present study aimed to evaluate the sensitivity, specificity and accuracy of the different GH peak cut-off points for diagnosis of GHD, in response to stimulus by insulin tolerance test (ITT) and clonidine test, in addition to identifying the best GH peak level to confirm diagnosis using a Receiver Operating Characteristics (ROC) curve analysis. For this purpose, a retrospective and observational study was carried out. Clinical and laboratory data from 62 patients at the endocrinology department of the Hospital Universitário João de Barros Barreto (HUJBB) were collected. The gold standard considered for performance analysis of cut-off points in both GH stimulation tests was the therapeutic response. Thus, 26 patients who achieved a height increase of at least 0,3 standard-deviation at the end of one year of treatment with recombinant human GH (rhGH) were classified as GHD. The remaining patients who did not obtain this gain formed the group called non-GHD. Both groups had similar mean height (p = 0,8155) and gained height at the end of follow-up, but this gain was higher in the GHD group compared to the non-GHG group (20,5 ± 14,8 cm vs. 9,2 ± 6,7 cm, respectively, p = 0,0064). GHD group had a significantly lower meddle GH peak than the non-GHG group in both tests (p <0,0001). Sensitivity, specificity and accuracy of cut-off points 3, 5, 7 and 10 ng/mL were defined in the TTI and in the clonidine test, and there was no superiority of one test over the other. In addition, the cut-off points found were 7,92 ng/mL and 6,78 ng/mL in the TTI and clonidine test, respectively, based on the construction of the ROC curve, representing the most sensitive and specific GH peak levels for the diagnosis of GHD. We conclude that the cut-off points found in this study may represent an emerging tool in the selection of patients who would probably benefit from treatment with rhGH, both in cases of GHD for a known cause and in cases of IGHD.
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Giannella, Alessandra. "Circulating small non coding RNAs and microparticles as potential markers of atherosclerotic plaque composition in type 1 diabetes." Doctoral thesis, Università degli studi di Padova, 2019. http://hdl.handle.net/11577/3423166.
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Background: Small non coding RNAs (sncRNAs) are endogenous short non coding molecules that regulate gene expression at post-translational level and are involved in several physiopathological processes. Circulating sncRNAs could be found free in biological fluids or loaded into extracellular vesicles, such as microparticles (MPs) in order to reach other tissues and amplify their signal. Next-generation sequencing (NGS) has become the main platform for biological research and biomarker discovery in the profiling of sncRNAs.
Aim: The aim of this study was: 1) to set up a protocol using NGS technology for the identification and quantification of circulating sncRNAs involved in atherosclerotic plaque composition in type 1 diabetic patients (T1DM); 2) to characterize the phenotypes of circulating MPs derived from T1DM, associated with the plaque composition to evaluate the impact of these extracellular vesicles as carrier of specific small non coding RNAs, involved in these pathways.
Material and Methods: Total RNA of 61 T1DM patients with fibrous (CFP; n 30) or calcified (CCP; n 31) carotid plaques was extracted from plasma samples, using a kit for biological fluids. For NGS sequencing, 25 CFP and 26 CCP were evaluated. The preparation of libraries was assessed using the Qiagen system. The sncRNA libraries pool was sequenced through the NGS sequencer MiSeq (Illumina), and the analysis performed by two bioinformatics tools (Partek Flow and CLC Genomics Workbench software). MPs derived from plasma of 40 T1DM patients with fibrous (CFP; n 20) or calcified (CCP; n 20) carotid plaques was assessed by centrifugation (40min x 14,000 rpm a 4°C) and characterized using flow cytometry (CytoFLEX, Beckman Coulter).
Results: An unbiased and accurate sncRNome-wide quantification was obtained, detecting already known circulating sncRNAs (miRNAs, n 2632; piRNAs, n 3286; and tsRNAs, n 640). The bioinformatic analysis using two software on the already known 2632 miRNAs showed a different profile in T1DM with CCP compared to T1DM with CFP. Circulating level of several miRNA implicated in vascular remodeling and glucose metabolism were upregulated in patients with CCP, compared to CFP (miR-503-5p, miR-93-5p, miR-106b-5p and let-7d-5p) and downregulated (miR-451a, miR-10a-5p and miR-29b-3p) in patients with CCP, compared to CFP.
We found that MPs released from endothelial cells and Platelets are enhanced in T1DM with vascular calcification (CCP) compare with T1DM with fibrous plaque (CFP); interestingly, a population of MPs derived from a niche of cells positive for CD34 and α-smooth muscle actin (αSMA) is also increased in CCP. Furthermore, the subgroup of MPs positive for calcification marker was significantly enhanced in patients with CCP in comparison to CFP patients with the main contribution given by CD34+ cells, suggesting a key role of these cells in the development of this vascular complication.
Conclusions: In conclusion, our results demonstrate the power of NGS technology to identify a huge amount of circulating sncRNAs and to discover RNA molecules present in human plasma. The identification of new molecular biomarkers with this ultra-high throughput and sensitive technique (NGS) will help to go further insight specific pathophysiological processes, such as atherosclerotic plaque composition in diabetes, allowing a potentially more targeted therapeutic approach. Furthermore, we demonstrate that microparticles exhibit differential markers in the presence of vascular calcification suggesting a potential role as carrier of small molecules to amplify their signal.
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SANTOS, Flávia Marques. "Injeção percutânea de etanol no tratamento de nódulos tireoidianos sólidos e mistos: um protocolo baseado em novas metas." Universidade Federal do Pará, 2016. http://repositorio.ufpa.br/jspui/handle/2011/8675.
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Injeção percutânea de etanol (IPE) guiada por ultrassom (US) tem sido sugerida para o tratamento dos nódulos tireoidianos (NT) benignos. Porém, não há um consenso quanto a quantidade padrão de injeção de etanol, número de aplicações e o tempo de reavaliação, de modo a alcançar a redução de volume máximo, com menores efeitos colaterais possíveis. O objetivo do presente estudo foi avaliar a eficácia de um protocolo IPE para tratar NT sólidos e mistos baseado em uma nova meta. Foi realizado um estudo prospectivo para avaliar os resultados do IPE em 52 pacientes com NT benignos sólidos e mistos. Em cada sessão, a dose de etanol foi fixada em 30% do volume nodular. Os pacientes retornavam um mês depois de cada sessão para reavaliação do NT pelo US. O sucesso terapêutico foi estabelecido como a redução ≥ 30% do volume associado ao desaparecimento de sintomas clínicos e uma completa satisfação estética relatada pelo sujeito. Foi realizada uma média de 2,8 ± 1,9 sessões IPE, com um volume médio total de etanol injetado de 9,1 ± 10,3 mL e um tempo de seguimento de 10,0 ± 8,7 meses. Houve redução de pelo menos 50% do volume inicial nodular em 33 pacientes (63,5%). Em 11 pacientes (21,2%) a redução não atingiu 50% (redução média de 31 ± 11%), mas desses, seis relataram resultados clinicos e estéticos satisfatórios e o tratamento foi interrompido. Portanto, nossa taxa de sucesso terapêutico, considerando os pacientes com resolução clinica e estética foi de 75%, não ocorrendo complicações graves. Nosso estudo sugere que o protocolo é eficaz e seguro para o tratamento de NT benignos sólidos e mistos com base nos resultados alcançados.
Percutaneous ethanol injection (PEI) guided by ultrasound (US) has been suggested for thyroid nodules (NT) benign treatment. However, there is no consensus on the standard amount of ethanol injection, number of applications and the re-evaluation time, in order to reach the maximum volume reduction with lower potential side effects. The aim of this study was to evaluate the effectiveness of an IPE protocol to treat solid and mixed NT based on a new goal. A prospective study was conducted to evaluate the results of the IPE in 52 patients with solid and mixed benign NT. In each session the ethanol dose was fixed at 30% of nodular volume. The patients returned a month after each session for NT reassessment by the US. Therapeutic success was established as a reduction ≥ 30% of the volume associated with the disappearance of clinical symptoms and a complete aesthetic satisfaction reported by the subject. It performed an average of 2.8 ± 1.9 PEI sessions with a total average volume of ethanol injected by 9.1 ± 10.3 mL and follow-up of 10.0 ± 8.7 months. A reduction of at least 50% of nodular initial volume in 33 patients (63.5%). In 11 patients (21.2%) reduction did not reach 50% (mean reduction of 31 ± 11%), but these, six individuals reported satisfactory clinical and cosmetic results and treatment was stopped. So, our therapeutic success rate, whereas patients with clinical and aesthetic resolution was 75%. There were no severe complications. Our study suggests that the protocol is effective and safe for the treatment of solid and mixed benign NT based on our established outcome.
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Fassone, E. "BIOCHEMICAL AND GENETIC APPROACHES TO UNRAVEL MITOCHONDRIAL COMPLEX I DEFICIENCY." Doctoral thesis, Università degli Studi di Milano, 2012. http://hdl.handle.net/2434/169915.
Full textAbstract:
Using biochemical and genetic approaches we have been able to identify the genetic defect underlying mitochondrial complex I deficiency in 3 patients out of the 12 patients in the cohort. The patient cohort investigated in this study is genetically heterogeneous, originating from several different geographical areas: England, France, the Middle East, Israel, India and Pakistan. They presented with different clinical phenotypes: Leigh syndrome, congenital lactic acidosis, hypertrophic cardiomyopathy, encephalopathy, developmental delay, Alpers’ disease.
After having excluded the mitochondrial DNA molecule for carrying mutations in muscle (analysis carried out by the diagnostic laboratories’ staff, at the National Hospital for Neurology, Queen Square, London), a biochemical investigation was undertaken in patients’ fibroblasts: the complex I activity defect was confirmed in this tissue as well for all the patients, and Blue Native studies were carried out. Antibodies against several subunits of complex I identified various subassemblies of the ~1MDa holoenzyme in several patients; in some others various degrees of reduction in holo-complex I content were observed. Analysis of the complex I pattern on Blue Native gels led the genetic screening towards a subset of genes, already known to be involved in complex I deficiency.
Two families were also run on the Affymetrix 10K SNP chip array and then a homozygosity mapping approach was undertaken on the assumption that the affected individuals inherited two copies of the same ancestral mutated allele from a common ancestor (autozygosity). A subsequent bioinformatics analysis (also involving the implementation of the Maestro and MitoCarta databases) allowed the selection of a subgroup of genes that could possibly bear the genetic defect; this was done taking into account the Blue Native complex I pattern as well.
Genetic screening identified a novel 8bp frameshift deletion (c.377_384del; Q126fsX2) in the NDUFS4 gene as cause of the disease in a patient from the first pedigree analyzed by homozygosity mapping. Her cousin was heterozygous for the same defect, but no other mutation has been identified, leaving this complex I deficiency case unsolved. In the second pedigree analyzed by homozygosity mapping approach, a homozygous mutation in a novel complex I assembly factor never previously linked to human disease has been identified. The c.1054C>T; R352W mutation in FOXRED1 segregated with disease in the family and was not found in 268 healthy control alleles. Western blot analysis showed a reduced steady-state level of FOXRED1 in patient fibroblasts and restoration of complex I activity after lentiviral transduction of patient fibroblasts with wild-type FOXRED1 cDNA. Finally, by candidate gene sequencing, two novel compound heterozygous mutations in NDUFAF1 were identified in a third patient: c.631C>T; R211C and c.733G>A; G245R.
In summary, this study allowed the identification of mutations in (i) one complex I subunit, NDUFS4, already associated with complex I deficiency; (ii) one novel complex I assembly factor: FOXRED1; (iii) and NDUFAF1, a known complex I assembly factor whose mutations give a similar complex I Blue Native pattern to the one observed in our patient. In conclusion our combined approach proved to be efficient in the identification of the genetic defect in patients affected with complex I deficiency.
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Almeida, João Rafael Duarte de. "Software solution for clinical protocol management." Master's thesis, 2018. http://hdl.handle.net/10773/25128.
Full textAbstract:
Decision support systems are currently important tools to guide the
clinician’s decisions and to help on the patient’s treatments. These systems
have been studied over the last decades, leading to some well-defined best
practices for building new solutions.
This project had the objective of building a clinical decision system with a
core engine based on predefined rules, which can be customized by end-users.
This work had as main motivation the treatment of diabetic inpatients and
outpatients, in hospital services others than endocrinology. To keep the
solution generic, the system does not depend on any specific patient data,
neither on the protocols. This application follows the client-server model.
based on a microservice architecture, providing a modern web user interface.
The project was carried out in a close collaboration with the Hospital
Center of Baixo do Vouga, resulting in a solution that can assists health
professionals in the treatment of patients, reducing errors and providing a
better monitoring of health care services.Nos últimos anos, têm sido estudadas diversas metodologias para aumentar a qualidade da execução dos tratamentos oferecidos aos doentes hospitalizados. Foram igualmente desenvolvidos sistemas computacionais para auxiliar a tomada de decisões clínicas. O objetivo deste trabalho consistiu no desenvolvimento de uma aplicação web para apoiar a execução de tratamentos clínicos, seguindo regras previamente estabelecidas. Estas regras constituem as premissas base que definem o procedimento a aplicar, ou seja, a estrutura do protocolo clínico. Este trabalho teve como principal motivação o tratamento de pacientes com diabetes que são internados ou atendidos em serviços hospitalares não especializados nesta doença. Contudo, para não limitar a sua aplicação a um cenário específico, a solução foi pensada para ser flexível e ser aplicável em qualquer cenário clínico. Esta aplicação segue o modelo cliente-servidor. com base numa arquiteture de microserviços, fornecendo uma interface de utilizador web moderna. O projeto decorreu em estreita colaboração com o Centro Hospitalar do Baixo do Vouga, tendo como resultado uma solução que auxilia os profissionais de saúde no tratamento de doentes internados, reduzindo o risco de erros e aumentando o controlo e monitorização dos cuidados de saúde.
Mestrado em Engenharia de Computadores e Telemática
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Woods, Marianne. "Assessment of xenoestrogens in the Australian freshwater environment: use, development and validation of in-vitro and in-vivo models." 2007. http://arrow.unisa.edu.au:8081/1959.8/34054.
Full textAbstract:
Xenoestrogens are chemical pollutants that can disrupt the endocrine system of animals by binding to and activating the estrogen receptor(s). They include both natural and synthetic steroid estrogens, together with a variety of estrogen mimicking chemicals such as 4-nonylphenol, bisphenol A and various pesticides. In vertebrates, estrogens play a fundamental role in reproduction, in somatic cell function, the regulation of calcium and water homeostasis. Exposure to xenoestrogens may therefore have unscheduled effects on these systems that can potentially compromise species survival. With the ever-increasing number of xenoestrogens identified and detected in the environment, together with the fact that they are seldom detected alone, there is a need to develop specific and sensitive biomarkers to detect estrogenic activity of chemicals in the environment when present alone and in mixtures. In this study, the effect of selected xenoestrogens was assessed using an in-vitro yeast estrogen screen (YES) both individually and in mixtures and in-vivo in a native fish species, the Murray rainbowfish (Melanotaenia fluviatilis).