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Littérature scientifique sur le sujet « Congenital diseases »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 15 février 2022

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Articles de revues sur le sujet "Congenital diseases"

Lees, George E. « Congenital Renal Diseases ». Veterinary Clinics of North America : Small Animal Practice 26, n^o 6 (novembre 1996) : 1379–99. http://dx.doi.org/10.1016/s0195-5616(96)50133-6.

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Green, A. « Congenital Metabolic Diseases ». Journal of Medical Genetics 23, n^o 4 (1 août 1986) : 381. http://dx.doi.org/10.1136/jmg.23.4.381.

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Leonard, J. V. « Congenital Metabolic Diseases ». Archives of Disease in Childhood 60, n^o 9 (1 septembre 1985) : 895. http://dx.doi.org/10.1136/adc.60.9.895.

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Iriart, X., J. Selly, J. Thambo, A. Van De Bruaene, P. De Meester, M. Delcroix, J. Voigt et al. « Congenital Heart Diseases ». European Heart Journal - Cardiovascular Imaging 13, suppl 1 (1 décembre 2012) : i106—i107. http://dx.doi.org/10.1093/ehjci/jes261.

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Younis, Mira, Radhika Rastogi, Ankur Chugh, Shantanu Rastogi et Hany Aly. « Congenital Diarrheal Diseases ». Clinics in Perinatology 47, n^o 2 (juin 2020) : 301–21. http://dx.doi.org/10.1016/j.clp.2020.02.007.

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Gorbunova, Victoria N. « Congenital metabolic diseases. Lysosomal storage diseases ». Pediatrician (St. Petersburg) 12, n^o 2 (11 août 2021) : 73–83. http://dx.doi.org/10.17816/ped12273-83.

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The classification and epidemiology of hereditary metabolic disorders are presented. That is a large group consisting from more them 800 monogenic diseases, each of which caused by inherited deficiency of certain metabolic fate. Many of these disorders are extremely rare, but their total incidence in the population is close to 1:10005000. Lysosomal storage diseases (LSD) resulting from inherited deficiency in lysosomal functions occupy a special place among hereditary metabolic disorders. The defects of catabolism cause the accumulation of undigested or partially digested macromolecules in lysosomes (that is, storage), which can result in cellular damage. About 60 diseases take part in this group with total incidence of about 1:70008000. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most of them have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. The etiology and pathogenetic aspects of their main clinical entities: mucopolysaccharidosis, glycolipidosis, mucolipidosis, glycoproteinosis, etc, are presented. Mucopolysaccharidoses caused by malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans are more frequent among LSD. Sphingolipidoses caused by defects of lipid catabolism are second for frequency group of LSD. The state-of-art in field of newborn screening. clinical, biochemical and molecular diagnostics of these grave diseases are discussed. The main directions of modern lysosomal storage diseases therapy are characterized: transplantation of hematopoietic stem cells; enzyme replacement therapy; therapy with limitation of substrate synthesis (substrate-reducing therapy); pharmacological chaperone therapy. Perspective directions for LSD therapy are gene therapy and genome editing which are at advanced preclinical stages.

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Bernolian, Nuswil, Radiyati Umi Partan, Siti Nurmaini, Cindy Kesty et Benedictus Wicaksono Widodo. « Congenital Heart Diseases in Pregnancy ». Bioscientia Medicina : Journal of Biomedicine and Translational Research 5, n^o 4 (8 juillet 2021) : 988–1004. http://dx.doi.org/10.32539/bsm.v5i4.376.

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This research aims to shed light into congenital heart diseases, the pathophysiology, and the ultrasonographic findings of congenital heart diseases. Congenital heart diseases are a major health concern, affecting 1.35 million children born every year. Ventricular septal defect, atrial septal defect, and atrioventricular septal defect are found in 57.9% cases of congenital heart diseases. The risk factors include consanguineous marriage, family history of congenital heart diseases, old maternal and paternal age, and exposure to teratogens, and genetic factors. Missteps in cardiac development are the main pathophysiology of congenital heart diseases. Ultrasonography screening in 18–22 weeks gestational age is utilized to screen. Follow-up screening can increase detection rate to 80%. This study has limitation of only discussing most common congenital heart diseases and did not delve into rarer types of congenital heart diseases and did not discuss impacts or burden of congenital heart diseases in adulthood and health comorbidities associated. This literature review is beneficial for general practitioners and obstetricians focusing in maternal fetal medicine.

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Singla, Saurabh, K. Anand, Aditi Jain et Ashok Kumar. « Congenital Cystic Lung Diseases ». Journal of Clinical Imaging Science 3, n^o 1 (2013) : 5. http://dx.doi.org/10.4103/2156-7514.106620.

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Cohen, Sarah, et Laurence Iserin. « Adult congenital heart diseases ». Sang thrombose vaisseaux 26, n^o 1 (janvier 2014) : 23–33. http://dx.doi.org/10.1684/stv.2013.0806.

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Drenth, Joost P. H., Melissa Chrispijn et Carsten Bergmann. « Congenital fibrocystic liver diseases ». Best Practice & ; Research Clinical Gastroenterology 24, n^o 5 (octobre 2010) : 573–84. http://dx.doi.org/10.1016/j.bpg.2010.08.007.

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Thèses sur le sujet "Congenital diseases"

Beswick, Richard William. « Functional characterisation of the genes mutated in dyskeratosis congenita ». Thesis, Queen Mary, University of London, 2013. http://qmro.qmul.ac.uk/xmlui/handle/123456789/8705.

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Dyskeratosis congenita (DC) is a multi system disorder that exhibits considerable clinical and genetic heterogeneity. It is characterised by mucocutaneous features, bone marrow failure and a predisposition to cancer. Research has identified mutations affecting several telomerase components and patients often have short telomeres, implicating defective telomere maintenance in this disease. Affected components include dyskerin, NOP10 and NHP2, which together with GAR1 form a protein core common to telomerase and all other H/ACA ribonucleoprotein complexes (H/ACA RNPs). Initially characterised as H/ACA RNP components important for pseudouridylation and rRNA processing, their role in the functionally distinct telomerase complex and telomere maintenance is less defined. In order to better understand their implications in DC, this study investigated the importance of these core proteins for the integrity and function of telomerase in human cells. RNAi knockdown studies demonstrated that dyskerin, NOP10 and NHP2 are necessary for the accumulation of TERC (telomerase RNA component); dyskerin and NOP10 for telomerase activity. Moreover, dyskerin was found to be important for maintaining telomere length over time. The impact of NOP10 and NHP2 missense mutations was also analysed in vitro, which indicated that they impair TERC accumulation. The potential effect on pseudouridylation was also considered in this study; the analysis of other H/ACA RNA levels in these knockdown experiments and in a cohort of patients with DKC1 mutations revealed an irregular and inconsistent impact compared to that observed on TERC. Finally, defective telomere maintenance is heavily implicated as the primary cause of DC and very short telomeres have been proposed as a diagnostic marker. This study investigated telomere length in a patient cohort of unprecedented size. It demonstrated the prevalence of the telomere length defect, but telomere length was not found to correlate with either genetic subtype or disease severity, implicating the rate of telomere shortening as the correlating factor instead.

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Wallgren-Pettersson, Carina. « Congenital nemaline myopathy a longitudinal study / ». Helsinki, Finland : Finnish Society of Sciences and Letters, 1990. http://catalog.hathitrust.org/api/volumes/oclc/24051855.html.

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Hui, Ling, et 許凌. « Dobutamine stress echocardiography for children with acquired and congenital cardiac diseases ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B29914954.

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Jannini, Alexandre Wolf. « Interrupção da gestação em situações de fetos portadores de malformações imcompativeis com a vida ultra-uterina : posicionamento de magistrados e membros do ministerio publico no Brasil ». [s.n.], 2008. http://repositorio.unicamp.br/jspui/handle/REPOSIP/311725.

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Orientador: Renato Passini Junior
Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
Made available in DSpace on 2018-11-09T15:30:07Z (GMT). No. of bitstreams: 1 Jannini_AlexandreWolf_M.pdf: 3134011 bytes, checksum: 9cae7dc9e2202285b4be1b0a5ae92bb0 (MD5) Previous issue date: 2008
Resumo: Introdução: A legislação não permite a interrupção da gestação em casos de malformações fetais incompatíveis com a vida extra-uterina, cabendo ao Poder Judiciário decidir quando há uma solicitação deste tipo. Objetivos: Investigar a opinião de Magistrados e membros do Ministério Público sobre o abortamento nos casos de malformações fetais incompatíveis com a vida extra-uterina, especialmente em relação à anencefalia. Método: Análise parcial de dados obtidos em duas pesquisas realizadas pelo Centro de Pesquisas em Saúde Reprodutiva de Campinas (CEMICAMP), que objetivaram estudar a opinião destes profissionais acerca do aborto induzido. Foram obtidos dados de 1493 Magistrados e 2614 Promotores de Justiça. Foi constituído um banco de dados com as informações de interesse das pesquisas originais, analisado com auxílio do programa estatístico SAS versão 9.02, envolvendo análise bivariada e múltipla, por regressão logística. Resultados: Para 78,5% dos Magistrados e 82,6% dos membros do Ministério Público, a interrupção da gestação deveria ser permitida nos casos de qualquer malformação fetal incompatível com a vida extra-uterina. Em casos de diagnóstico de anencefalia, estes valores foram de 79,2% e 84,1%, respectivamente. Na análise multivariada, as variáveis associadas à opinião dos pesquisados foram a religiosidade, importância da religião e das concepções religiosas pessoais sobre as respostas dadas, experiência de gravidez indesejada que resultou em aborto, sexo, estado marital e o fato de possuir filhos. Conclusões: A grande maioria dos Magistrados e membros do Ministério Público foi favorável ao abortamento nas hipóteses estudadas, sendo as variáveis ligadas à religião as que mais influenciaram seu posicionamento
Abstract: Introduction: In Brazil abortion in cases of fetal malformation or anencephaly is prohibited by law. Pregnant women who want to perform an abortion in such cases must seek for a judicial order. Objectives: Evaluate the opinion of brazilian magistrates and Prosecutors about abortion in cases of fetal malformation incompatible with life and anencephaly. Methodology: It was a partial data analysis from data obtained in two researchs carried out by Centro de Pesquisas em Saúde Reprodutiva de Campinas (CEMICAMP ), to evaluate the opinion and conduct of these professionals about induced abortion. There were data from 1453 Magistrates and 2614 Prosecutors. It was made a data bank with data from the original studies, that was processed and analyzed using the statistical package SAS version 9.02. Results: For 78.5% of the Magistrates and 82.6% of the Prosecutors abortion should be permitted in cases of severe fetal malformation incompatible with life. In cases of anencephaly abortion should be permitted for 79.2% of the Magistrates and for 84.1% of the Prosecutors. Religiosity, influence of religion and personal religious convictions among responses, experience with unwanted pregnancy that ended in abortion, gender, marital status and the fact of having children had shown, in multivariable analysis, association with the opinion about abortion in the hypothesis studied. Conclusion: The great majority of Magistrates and Prosecutors had a favorable opinion about abortion in both hypothesis evaluated. Variables associated with religion had the strongest association with the opinion about abortion in cases of fetal malformation and anencephaly.Abstract: Introduction: In Brazil abortion in cases of fetal malformation or anencephaly is prohibited by law. Pregnant women who want to perform an abortion in such cases must seek for a judicial order. Objectives: Evaluate the opinion of brazilian magistrates and Prosecutors about abortion in cases of fetal malformation incompatible with life and anencephaly. Methodology: It was a partial data analysis from data obtained in two researchs carried out by Centro de Pesquisas em Saúde Reprodutiva de Campinas (CEMICAMP ), to evaluate the opinion and conduct of these professionals about induced abortion. There were data from 1453 Magistrates and 2614 Prosecutors. It was made a data bank with data from the original studies, that was processed and analyzed using the statistical package SAS version 9.02. Results: For 78.5% of the Magistrates and 82.6% of the Prosecutors abortion should be permitted in cases of severe fetal malformation incompatible with life. In cases of anencephaly abortion should be permitted for 79.2% of the Magistrates and for 84.1% of the Prosecutors. Religiosity, influence of religion and personal religious convictions among responses, experience with unwanted pregnancy that ended in abortion, gender, marital status and the fact of having children had shown, in multivariable analysis, association with the opinion about abortion in the hypothesis studied. Conclusion: The great majority of Magistrates and Prosecutors had a favorable opinion about abortion in both hypothesis evaluated. Variables associated with religion had the strongest association with the opinion about abortion in cases of fetal malformation and anencephaly
Mestrado
Ciencias Biomedicas
Mestre em Tocoginecologia

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Lai, Tik-man Clare, et 賴迪雯. « Circulating biomarkers and right ventricular function in adolescents and young adults with congenital heart disease ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/197541.

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The population of adolescent and adults with congenital heart disease (CHD) has grown rapidly. Right ventricular (RV) dysfunction remains an important issue of concern in the long-term follow up of these patients. While circulating biomarkers have shown promise in the assessment and monitoring of adult patients with left heart diseases, little is known of the role of biomarkers in reflecting RV performance in CHD patients. Emerging circulating biomarkers that reflect underlying pathophysiologic processes have gained increasing attention. These include inflammatory cytokines namely tumour necrosis factor (TNF)-α, a biomarker of apoptosis annexin A5 (AnxA5), carboxy-terminal propeptide of type I procollagen (PICP) and amino-terminal propeptide of type III procollagen (PIIINP) that reflects collagen synthesis and turnover, low circulating levels of cardiac troponin T as detected by highly sensitive assay (hs-cTnT) that may reflect subclinical myocardial injury, and microRNAs found to be involved in cardiac remodeling. The studies in this thesis aimed to test the hypothesis that circulating biomarkers may be altered in patients with volume-overloaded right ventricles after repair of tetralogy (TOF) and pressure-overloaded right ventricles after atrial switch operation for complete transposition of the great arteries (TGA), and are related to indices of RV function. In patients after TOF repair, increased circulating PICP and PIIINP levels were associated with worse subpulmonary RV and left ventricular (LV) function. In particular, these propeptides correlated positively with LV mechanical dyssynchrony, implicating a possible role of increased collagen synthesis in its pathogenesis. Increased plasma levels of hs-cTnT were further found in 30% of female, but not male patients. Female patients with elevated hs-cTnT levels compared to those without had greater RV volumes and LV mechanical dyssynchrony. Independent correlates of hs-cTnT in patients as determined from multivariate analysis were sex and RV ejection fraction. MicroRNA profiling following validation confirmed alteration of circulating levels of miR-99b and miR-766 in repaired TOF patients, a pattern distinct from that reported for left heart diseases. The miRNA expression was, however, not related to the cardiac functional indices. Patients after atrial repair for TGA had significantly higher circulating AnxA5 and TNF-αlevels, but similar PICP, PIIINP levels, compared with controls. Elevated AnxA5 level was associated with impaired systemic RV myocardial deformation, increased subpulmonary ventricular eccentricity, and increased TNF-αlevel. Elevation of hs-cTnT is found in 39% of the patients. The positive correlation between hs-cTnT level and systemic RV volume may suggest a role of hs-cTnT in reflecting RV remodeling. Circulating microRNA expression profiling and further validation identified 11 upregulated microRNAs (miR-16, miR-106a, miR-144*, miR-18a, miR-25, miR-451, miR-486-3p, miR-486-5p, miR-505*, let-7e and miR-93). Among them, miR-18a and miR-486-5p correlated negatively with systemic ventricular myocardial acceleration during isovolumic contraction, a relatively-load independent measure of systemic RV contractility. To conclude, these biomarkers reflect in varying extent the structural, functional, biological alteration of the subpulmonary and systemic right ventricles of the CHD patients late after surgical repair. These data may provide new perspectives in the understanding of progressive RV dysfunction in the adult CHD population and hopefully shed more lights on novel therapeutic interventions.
published_or_final_version
Paediatrics and Adolescent Medicine
Doctoral
Doctor of Philosophy

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Silva, Viviane Martins da. « Characterization of nursing diagnoses in children with congenital heart disease : Study at a specialized hospital in diseases cardiopulmonary ». Universidade Federal do CearÃ, 2007. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=1050.

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CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior
Os cuidados de enfermagem para crianÃas com cardiopatia congÃnita devem ser estabelecidos e executados tÃo logo se suspeite do diagnÃstico de defeito cardÃaco congÃnito, voltados sempre para a detecÃÃo precoce de sinais de descompensaÃÃo e manutenÃÃo de condiÃÃes Ãtimas para a cirurgia. Objetivou-se caracterizar o quadro de diagnÃsticos de enfermagem apresentados por crianÃas com cardiopatias congÃnitas. Estudo de natureza observacional, longitudinal desenvolvido nos meses de julho a novembro de 2004. A amostra foi composta por 45 crianÃas internadas em um hospital da rede pÃblica do municÃpio de Fortaleza-CearÃ. Para a coleta, foram utilizados entrevista e exame clÃnico de enfermagem. As crianÃas foram acompanhadas durante quinze dias de internamento desde a data de sua admissÃo. No perÃodo efetivaram-se seis avaliaÃÃes diagnÃsticas com intervalo de 48 horas. O processo de elaboraÃÃo e inferÃncia dos diagnÃsticos e problemas colaborativos seguiu as etapas de coleta, interpretaÃÃo / agrupamento das informaÃÃes e nomeaÃÃo de categorias. Foram encontrados 22 diagnÃsticos de enfermagem, 34 fatores relacionados e 13 problemas colaborativos diferentes nas 270 avaliaÃÃes realizadas. Observou-se associaÃÃo estatisticamente significante entre os diagnÃsticos Troca de gases prejudicada, PadrÃo respiratÃrio ineficaz, IntolerÃncia Ã atividade, Crescimento e desenvolvimento retardados e PerfusÃo tissular ineficaz. Estes diagnÃsticos apresentaram associaÃÃo com os fatores relacionados: DesequilÃbrio da ventilaÃÃo-perfusÃo, HiperventilaÃÃo, ReduÃÃo mecÃnica do fluxo sangÃÃneo, SecreÃÃes brÃnquicas e SecreÃÃes retidas. Os diagnÃsticos IntolerÃncia Ã atividade e Crescimento e desenvolvimento retardados mostraram associaÃÃo com o sexo feminino. Nos diagnÃsticos Troca de gases prejudicada, PadrÃo respiratÃrio ineficaz, IntolerÃncia Ã atividade, Crescimento e desenvolvimento retardados e DÃbito cardÃaco diminuÃdo, identificaram-se diferenÃas de mÃdia de sobrevida entre crianÃas atÃ 4 meses e acima de 4 meses. Os diagnÃsticos Troca de gases prejudicada, PadrÃo respiratÃrio ineficaz, IntolerÃncia Ã atividade e Risco para infecÃÃo ocorreram precocemente no perÃodo de internamento. Entre os diagnÃsticos, seis evidenciaram maiores oscilaÃÃes em suas trajetÃrias de ocorrÃncia no tempo: PadrÃo respiratÃrio ineficaz, IntolerÃncia Ã atividade, DesobstruÃÃo ineficaz das vias aÃreas, Hipertermia, PadrÃo de sono perturbado e Risco para intolerÃncia Ã atividade. Foram construÃdos cinco modelos paramÃtricos no domÃnio tempo, com vistas a predizer a ocorrÃncia desses diagnÃsticos de enfermagem. O ajustamento das equaÃÃes para os diagnÃsticos PadrÃo de sono perturbado e Hipertermia denotou grande dispersÃo entre os dados e a linha de tendÃncia, indicando que, alÃm do tempo, outras variÃveis determinam a proporÃÃo de crianÃas que manifestarÃo esses diagnÃsticos. Considera-se a importÃncia de se realizar pesquisas de caracterizaÃÃo do quadro de diagnÃsticos para determinaÃÃo das necessidades de assistÃncia de enfermagem Ã crianÃa cardiopata. O conhecimento da evoluÃÃo temporal das respostas do indivÃduo pode direcionar os cuidados de enfermagem para as reais necessidades do cliente, facilitando, assim, a escolha de intervenÃÃes mais adequadas

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Tivers, Michael Samuel. « The role of hepatic regeneration and angiogenesis in the response to surgical attenuation of congenital portosystemic shunts in dogs ». Thesis, Royal Veterinary College (University of London), 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.618310.

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Herman, Kazibwe. « Barriers experienced by parents/caregivers of children with clubfoot deformity attending specific clinics in Uganda ». Thesis, University of the Western Cape, 2006. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_9901_1194348551.

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Clubfoot is the most common congenital structural deformity that leads to physical impairments in children in many poor developing countries. Inadequately treated or neglected clubfoot has been found to be a common cause of ohysical disability globally among children and young growing adults. Many children are referred to the clinics for treatment but some parents do not comply with the treatment regimen whcih requires attending for consecutive treatment sessions. The purpose of this study was to investigate barriers to treatment attendance parents/caregivers of children with clubfoot encounter in complying with clubfoot treatment during the plaster csting phase in Uganda.

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Chow, Pak-cheong, et 周百昌. « Systematic review on efficacy of anticoagulation and antithrombotics in patients with congenital heart diseases ». Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B50222636.

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Background: Advance in cardiac intervention improved the survival of patients with congenital heart diseases (CHD). However, they may have propensity of thromboembolism and the use of antithrombotic agents was generally based on small studies and consensus opinion. Objective: To systematically review the current literature on the efficacy and safety of various antithrombotic agents in patients with CHD. Methods: Studies published in English during the period 1990 – 2012 were identified using keyword search from PubMed, Medline, EMBase, and Cochrane Library. Additional search from reference sections of the articles and clinical trial registry was performed. Data extracted included: type of studies, number of patients, follow-up period during which the patients were on the antithrombotic agents, number of thromboembolic (TE) events, and all, major and minor bleeding events. Event rate as the proportion of events of the patients and event per 100 patients-year were obtained for respective antithrombotic agent in each study. Composite event rate and event per 100 patients-year were estimated after weighting. Results: Forty studies consisted of 5144 patients were reviewed. Observation period of 8916.6 years was available in 25 studies. Diagnostic categories included: Fontan operation 15, systemic-to-pulmonary artery shunt 7, mechanical valve 8, atrial septal defect occlusion device 2, cyanotic heart 1, mixed 7. Antithrombotic prophylaxis was not used in 13 studies, warfarin in 26, aspirin alone in 22, combined aspirin and dipyridamole in 2. Clopidogrel with concomitant antithrombotic agents was reported in 5 studies. Overall composite TE event rate was 3.9% (95% CI 2.3 – 5.4%) and that of all bleeding rate was 2.8% (95% CI 0 – 5.5%), with 1.4% (95% CI 0.0 – 2.6%) for major and 2.2% (95% CI 0.0 – 4.3%) for minor bleeding. Composite TE rate for no prophylaxis (9.6%; 05% CI 3.7 – 15.5%) was significantly greater than that of warfarin (1.7%; 95% CI 0.1 – 3.3%) and aspirin (1.3%; 95% CI 0.0 – 3.0%). Both TE and all bleeding rate showed no difference between warfarin and aspirin, while major bleeding tended to be higher in warfarin than aspirin(0.9% vs 0.0%, p=0.06). Fontan patients had overall TE rate of 2.7% (95% CI 0.1 – 5.4%). Patients with no prophylaxis (10.2%; 95% CI 9.2 – 18%) had significantly greater TE rate than warfarin (1.4%; 95% CI 0.0 – 0.4%) or aspirin (1.2%; 95% CI 0.0 – 3.0%). All bleeding rate in Fontan patients was 0.5% (95% CI 0.0 – 4.3%). Both TE ad bleeding rates showed no difference between warfarin and aspirin. Overall TE rate for shunt was 7.2% (95% CI 3.7 – 14.3%), being similar between aspirin group and no antithrombotic group. Patients with mechanical valves had TE rate of 7.3% (95% CI 2.9 – 11.6%) and all bleeding rate of 7.2% (95% CI 4.2 – 10.2%). There was no statistical difference between warfarin and APA group. Patients with ASD occlusion device has TE rate of 0.1% (95% CI 0.0 – 0.2%). No bleeding event was reported in the studies. Conclusion: Patients with congenital heart diseases were at risk of developing thromboembolism which justified the use of anti-thrombotic prophylaxis. Further studies relating the thromboembolic risk profile of patients with CHD to the efficacy of anti-thrombotic agents might help in selection of anti-thrombotic agents.
published_or_final_version
Community Medicine
Master
Master of Public Health

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Darwich, Rami. « Functional Analysis of KLF13 in the Heart ». Thesis, Université d'Ottawa / University of Ottawa, 2016. http://hdl.handle.net/10393/34317.

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Congenital heart defects (CHD) are the largest class of birth defects in humans and are a major cause of infant mortality and morbidity. Deciphering the molecular and genetic etiologies central for heart development and the pathogenesis of congenital heart diseases (CHD) is a challenging puzzle. We have previously demonstrated that the zinc-finger kruppel-like transcription factor KLF13, expressed predominantly in the atria, binds evolutionarily conserved regulatory elements known as CACC-boxes and transcriptionally activates several cardiac promoters. KLF13 loss of function in Xenopus embryos was associated with cardiac developmental defects underscoring its critical role in the heart. In the current study, using in vivo and in vitro approaches, we examined KLF13’s mechanisms of action and its interaction with other cardiac regulators. To test the evolutionary conserved role in the mammalian heart, we deleted the Klf13 gene in transgenic mice using homologous recombination. Mice with homozygote deletion of Klf13 were born at reduced frequency owing to severe heart defects. We also report the existence of a novel isoform of KLF13, referred to here as KLF13b. Furthermore, we report that KLF13 interacts biochemically and genetically with the T-box transcription factor TBX5 which is a key regulator of heart development. Our data provide novel insight into the role of KLF13 in cardiac transcription and suggest that KLF13 maybe a genetic modifier of congenital heart disease. Furthering our knowledge of protein-protein interactions and gene transcription will enhance genotype-phenotype correlation and contribute to better understanding of the etiology of CHD.

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Livres sur le sujet "Congenital diseases"

Al-Tubaikh, Jarrah Ali, et Maximilian F. Reiser, dir. Congenital Diseases and Syndromes. Berlin, Heidelberg : Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-642-00160-4.

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Nicolopoulou-Stamati, P., L. Hens et C. V. Howard, dir. Congenital Diseases and the Environment. Dordrecht : Springer Netherlands, 2007. http://dx.doi.org/10.1007/1-4020-4831-9.

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Ley, Sebastian, et Julia Ley-Zaporozhan, dir. Congenital Heart Diseases in Adults. Cham : Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-61888-3.

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H, Anderson Robert, Van Arsdell Glen S et SpringerLink (Online service), dir. Congenital Diseases in the Right Heart. London : Springer London, 2009.

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Redington, Andrew N., Glen S. Van Arsdell et Robert H. Anderson, dir. Congenital Diseases in the Right Heart. London : Springer London, 2009. http://dx.doi.org/10.1007/978-1-84800-378-1.

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Rickert-Sperling, Silke, Robert G. Kelly et David J. Driscoll, dir. Congenital Heart Diseases : The Broken Heart. Vienna : Springer Vienna, 2016. http://dx.doi.org/10.1007/978-3-7091-1883-2.

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Congenital diseases of the heart : Clinical-physiological considerations. 3^e éd. Chichester, West Sussex, UK : Wiley-Blackwell, 2009.

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Rajeshkannan, Ramiah, Vimal Raj et Sanjaya Viswamitra, dir. CT and MRI in Congenital Heart Diseases. Singapore : Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-15-6755-1.

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Mojab, Cynthia Good. Congenital disorders in the nursling. Schaumburg, IL : La Leche League Internaitonal, 2002.

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Butera, Gianfranco, John Cheatham, Carlos AC Pedra, Dietmar Schranz et Gerald Tulzer, dir. Fetal and Hybrid Procedures in Congenital Heart Diseases. Cham : Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-40088-4.

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Chapitres de livres sur le sujet "Congenital diseases"

Arnoux, Jean-Baptiste, et Pascale de Lonlay. « Congenital Hyperinsulinism ». Dans Inborn Metabolic Diseases, 169–74. Berlin, Heidelberg : Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-49771-5_9.

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Chessa, Massimo, et Fatma Aboalsoud Taha. « Congenital Heart Diseases ». Dans Handbook of Psychocardiology, 407–37. Singapore : Springer Singapore, 2016. http://dx.doi.org/10.1007/978-981-287-206-7_22.

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Rustamova, Yasmin, et Massimo Lombardi. « Congenital Heart Diseases ». Dans Cardiac Magnetic Resonance Atlas, 171–98. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-41830-4_7.

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Yin, Wei-Hsian, et Ming-Chon Hsiung. « Congenital Heart Diseases ». Dans Atlas of Perioperative 3D Transesophageal Echocardiography, 121–46. Singapore : Springer Singapore, 2016. http://dx.doi.org/10.1007/978-981-10-0587-9_7.

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Stolz, Gabriela, et Dieter Weitzel. « Congenital Pediatric Diseases ». Dans Screening and Preventive Diagnosis with Radiological Imaging, 215–31. Berlin, Heidelberg : Springer Berlin Heidelberg, 2008. http://dx.doi.org/10.1007/978-3-540-49831-5_11.

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Lees, George E. « Congenital Kidney Diseases ». Dans Nephrology and Urology of Small Animals, 568–76. West Sussex, UK : John Wiley & Sons, Ltd., 2014. http://dx.doi.org/10.1002/9781118785546.ch56.

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Monnet, Eric. « Congenital Pericardial Diseases ». Dans Small Animal Soft Tissue Surgery, 817–19. Chichester, UK : John Wiley & Sons, Ltd, 2014. http://dx.doi.org/10.1002/9781118997505.ch84.

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Chessa, Massimo, et Fatma Aboalsoud Taha. « Congenital Heart Diseases ». Dans Handbook of Psychocardiology, 1–31. Singapore : Springer Singapore, 2015. http://dx.doi.org/10.1007/978-981-4560-53-5_22-1.

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Pattillo Silva, Juan Carlos, Sergio Zúñiga Rocha et José Vuletin Solís. « Congenital Lung Malformations ». Dans Pediatric Respiratory Diseases, 551–59. Cham : Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-26961-6_54.

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Shah, Veeral S. « Leber Congenital Amaurosis ». Dans Manual of Retinal Diseases, 125–28. Cham : Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-20460-4_27.

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Actes de conférences sur le sujet "Congenital diseases"

Krželj, Vjekoslav, et Ivana Čulo Čagalj. « INHERITED METABOLIC DISORDERS AND HEART DISEASES ». Dans Symposium with International Participation HEART AND … Akademija nauka i umjetnosti Bosne i Hercegovine, 2019. http://dx.doi.org/10.5644/pi2019.181.02.

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Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in cases when heart diseases are etiologically undefined. Rapid technological development has made it easier to establish the diagnosis of these diseases. This article will focus on common inherited metabolic disorders that cause heart diseases, as well as on diseases that might be possible to treat.

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Horvath, Rita. « Mitochondrial Diseases : Diagnosis and Novel Approach for Treatment ». Dans Congenital Dystrophies - Neuromuscular Disorders Precision Medicine : Genomics to Care and Cure. Hamad bin Khalifa University Press (HBKU Press), 2020. http://dx.doi.org/10.5339/qproc.2020.nmd.18.

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Attarodi, Gholamreza, Asghar Tareh, Nader Jafarnia Dabanloo et Ali Adeliansedehi. « Classification of Congenital Heart Diseases By SVM-MFCC Using Phonocardiograph ». Dans 2017 Computing in Cardiology Conference. Computing in Cardiology, 2017. http://dx.doi.org/10.22489/cinc.2017.083-290.

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Fodor, G., A. T. Balogh, G. Hosszu et F. Kovacs. « Screening for congenital heart diseases by murmurs using telemedical phonocardiography ». Dans 2012 34th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2012. http://dx.doi.org/10.1109/embc.2012.6347385.

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Sheehan, Megan M., Ganga Karunamuni, Cameron J. Pedersen, Shi Gu, Yong Qiu Doughman, Michael W. Jenkins, Michiko Watanabe et Andrew M. Rollins. « Prevention of congenital defects induced by prenatal alcohol exposure (Conference Presentation) ». Dans Diagnosis and Treatment of Diseases in the Breast and Reproductive System III, sous la direction de Melissa C. Skala et Paul J. Campagnola. SPIE, 2017. http://dx.doi.org/10.1117/12.2253111.

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Rietdorf, U., E. Riesenkampff, T. Schwarz, T. Kuehne, H. P. Meinzer et I. Wolf. « Planning of vessel grafts for reconstructive surgery in congenital heart diseases ». Dans SPIE Medical Imaging. SPIE, 2010. http://dx.doi.org/10.1117/12.844209.

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Ismail, Said, Reem Al Sulaiman, Khalid Fakhro, Noha Yousri, Mohamed Saad, Nahla Afifi, Volker Straub et Alice Abdel Aleem. « Genomic and National Databases : Rare Diseases and Precision Medicine Perspectives : Panel Discussion ». Dans Congenital Dystrophies - Neuromuscular Disorders Precision Medicine : Genomics to Care and Cure. Hamad bin Khalifa University Press (HBKU Press), 2020. http://dx.doi.org/10.5339/qproc.2020.nmd.24.

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Al-Thani, Sheikh Mohamed, Mahmoud Fawzi Elsaid, Hamda Qotba, Fatima Al Musafri, Reem Babiker Mohamed, Gustavo Dziewczapolski et Alice Abdel Aleem. « Heritable Neuromuscular Diseases in Qatar : Recent Advances and Future Planning : Panel discussion ». Dans Congenital Dystrophies - Neuromuscular Disorders Precision Medicine : Genomics to Care and Cure. Hamad bin Khalifa University Press (HBKU Press), 2020. http://dx.doi.org/10.5339/qproc.2020.nmd.4.

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Makey, T., A. Ershova-Pavlova et N. Kokorina. « THE PREVALENCE AND STRUCTURE OF CONGENITAL DISEASES OF LUNG DEVELOPMENT IN BELARUS ». Dans SAKHAROV READINGS 2020 : ENVIRONMENTAL PROBLEMS OF THE XXI CENTURY. Minsk, ICC of Minfin, 2020. http://dx.doi.org/10.46646/sakh-2020-2-127-130.

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Straub, Volker. « The Role of Magnetic Resonance Imaging in the Diagnosis and Assessment of Patients with Genetic Muscle Diseases ». Dans Congenital Dystrophies - Neuromuscular Disorders Precision Medicine : Genomics to Care and Cure. Hamad bin Khalifa University Press (HBKU Press), 2020. http://dx.doi.org/10.5339/qproc.2020.nmd.7.

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Rapports d'organisations sur le sujet "Congenital diseases"

Viswanathan, Meera, Jennifer Cook Middleton, Alison Stuebe, Nancy Berkman, Alison N. Goulding, Skyler McLaurin-Jiang, Andrea B. Dotson et al. Maternal, Fetal, and Child Outcomes of Mental Health Treatments in Women : A Systematic Review of Perinatal Pharmacologic Interventions. Agency for Healthcare Research and Quality (AHRQ), avril 2021. http://dx.doi.org/10.23970/ahrqepccer236.

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Background. Untreated maternal mental health disorders can have devastating sequelae for the mother and child. For women who are currently or planning to become pregnant or are breastfeeding, a critical question is whether the benefits of treating psychiatric illness with pharmacologic interventions outweigh the harms for mother and child. Methods. We conducted a systematic review to assess the benefits and harms of pharmacologic interventions compared with placebo, no treatment, or other pharmacologic interventions for pregnant and postpartum women with mental health disorders. We searched four databases and other sources for evidence available from inception through June 5, 2020 and surveilled the literature through March 2, 2021; dually screened the results; and analyzed eligible studies. We included studies of pregnant, postpartum, or reproductive-age women with a new or preexisting diagnosis of a mental health disorder treated with pharmacotherapy; we excluded psychotherapy. Eligible comparators included women with the disorder but no pharmacotherapy or women who discontinued the pharmacotherapy before pregnancy. Results. A total of 164 studies (168 articles) met eligibility criteria. Brexanolone for depression onset in the third trimester or in the postpartum period probably improves depressive symptoms at 30 days (least square mean difference in the Hamilton Rating Scale for Depression, -2.6; p=0.02; N=209) when compared with placebo. Sertraline for postpartum depression may improve response (calculated relative risk [RR], 2.24; 95% confidence interval [CI], 0.95 to 5.24; N=36), remission (calculated RR, 2.51; 95% CI, 0.94 to 6.70; N=36), and depressive symptoms (p-values ranging from 0.01 to 0.05) when compared with placebo. Discontinuing use of mood stabilizers during pregnancy may increase recurrence (adjusted hazard ratio [AHR], 2.2; 95% CI, 1.2 to 4.2; N=89) and reduce time to recurrence of mood disorders (2 vs. 28 weeks, AHR, 12.1; 95% CI, 1.6 to 91; N=26) for bipolar disorder when compared with continued use. Brexanolone for depression onset in the third trimester or in the postpartum period may increase the risk of sedation or somnolence, leading to dose interruption or reduction when compared with placebo (5% vs. 0%). More than 95 percent of studies reporting on harms were observational in design and unable to fully account for confounding. These studies suggested some associations between benzodiazepine exposure before conception and ectopic pregnancy; between specific antidepressants during pregnancy and adverse maternal outcomes such as postpartum hemorrhage, preeclampsia, and spontaneous abortion, and child outcomes such as respiratory issues, low Apgar scores, persistent pulmonary hypertension of the newborn, depression in children, and autism spectrum disorder; between quetiapine or olanzapine and gestational diabetes; and between benzodiazepine and neonatal intensive care admissions. Causality cannot be inferred from these studies. We found insufficient evidence on benefits and harms from comparative effectiveness studies, with one exception: one study suggested a higher risk of overall congenital anomalies (adjusted RR [ARR], 1.85; 95% CI, 1.23 to 2.78; N=2,608) and cardiac anomalies (ARR, 2.25; 95% CI, 1.17 to 4.34; N=2,608) for lithium compared with lamotrigine during first- trimester exposure. Conclusions. Few studies have been conducted in pregnant and postpartum women on the benefits of pharmacotherapy; many studies report on harms but are of low quality. The limited evidence available is consistent with some benefit, and some studies suggested increased adverse events. However, because these studies could not rule out underlying disease severity as the cause of the association, the causal link between the exposure and adverse events is unclear. Patients and clinicians need to make an informed, collaborative decision on treatment choices.

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