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1

Biallet, Brigitte. "Actualite sur le syndrome de morris : interet de la gonadectomie par coelioscopie ; a propos de deux cas." Nancy 1, 1993. http://www.theses.fr/1993NAN11139.

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Lunion, Steeve. "Enrichissement environnemental, performances cognitives et neurogenèse hippocampique adulte chez un modèle murin du syndrome de Coffin-Lowry." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA11T034/document.

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Le syndrome de Coffin Lowry est une forme syndromique rare de déficience intellectuelle liée au chromosome X. Ce syndrome est dû à des mutations du gène Rsk2 codant la protéine kinase RSK2 dans la voie de signalisation des MAPK/ERK. La caractérisation phénotypique du modèle murin Rsk2-KO a principalement mis en évidence un retard d’acquisition ainsi qu’un déficit de mémoire spatiale à long terme, suggérant une altération des fonctions hippocampiques. Nous avons montré que les souris Rsk2-KO présentent également des déficits dans une forme d’apprentissage et de mémoire mettant en jeu la fonction de séparation de patterns dépendante du gyrus denté. Plusieurs études montrent que la genèse de nouveaux neurones dans le gyrus denté chez l’adulte constitue une forme de plasticité jouant un rôle important dans l’apprentissage et la mémoire dépendante de l’hippocampe, en particulier dans les tâches spatiales et de séparation de patterns. En raison des déficits observés chez les souris Rsk2-KO, nous nous sommes intéressés à la neurogenèse adulte chez ce modèle murin. Aucune différence de prolifération, de survie ou de maturation n’a été observée dans le gyrus denté des souris Rsk2-KO à l’état basal, ni après une tâche de séparation de patterns. Cependant, nous avons observé un déficit de survie des nouvelles cellules chez les souris Rsk2-KO après apprentissage dans la piscine de Morris. La littérature montre que l’enrichissement environnemental a des effets bénéfiques sur les performances cognitives des rongeurs et est notamment capable d’augmenter la neurogenèse adulte hippocampique. Nous avons donc analysé les effets de l’enrichissement sur les performances comportementales et la neurogenèse adulte des souris Rsk2-KO. Nos résultats montrent qu’un protocole d’enrichissement environnemental de 3 heures par jours durant 24 jours est capable de compenser ou d’améliorer les performances des souris Rsk2-KO dans les tâches de mémoire spatiale et de séparation de patterns et aussi d’augmenter la neurogenèse hippocampique adulte<br>The Coffin-Lowry Syndrome is a rare syndromic form of X-linked intellectual disability. This syndrome is caused by mutations of the Rsk2 gene that encodes a protein kinase, RSK2, in the MAPK/ERK signaling pathway. Characterization of the behavioural phenotype of Rsk2-KO mice mainly showed that they display delayed acquisition and long-term deficits in a spatial reference memory task, suggesting an alteration in hippocampal function. Here, we show that Rsk2-KO mice are also deficient in a learning and memory task that involves dentate gyrus-dependent pattern separation function. Several studies showed the formation of new neurons in the adult dentate gyrus by neurogenesis is a form of plasticity that plays a significant role in hippocampal-dependent learning and memory, in particular for spatial learning and memory and pattern separation. As these functions are altered in Rsk2-KO mice, we studied hippocampal adult neurogenesis in these mice. No difference in proliferation, survival and maturation of newborn neurons was found in the dentate gyrus of the mutant mice in basal conditions, nor after a pattern separation task. However, we found a deficit in the survival of newborn cells in Rsk2-KO mice submitted to spatial learning and memory in the Morris water maze task. According to several studies, environmental enrichment in rodents has beneficial effects on cognitive performance and is associated with an enhancement of adult hippocampal neurogenesis. Thus, we assessed the potential effect of environmental enrichment on spatial learning and memory performance and adult hippocampal neurogenesis in Rsk2-KO mice. Our results show that an environmental enrichment protocol of 3h per day during 24 days can rescue or ameliorate spatial learning and memory performance and pattern separation function in Rsk2-KO mice and increase adult hippocampal neurogenesis
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Arnold, Guy. "Früh- und Differentialdiagnose von Parkinson-Syndromen unter besonderer Berücksichtigung des Steele-Richardson-Olszewski-Syndroms." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2001. http://dx.doi.org/10.18452/13761.

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In der Differentialdiagnose von Parkinson-Syndromen wurden in frühen und in fortgeschrittenen Stadien insgesamt 138 Patienten mit der Verdachtsdiagnose eines Morbus Parkinson und mit der Verdachtsdiagnose einer progressiven supranukleären Blickparese untersucht. Es wurden klinische Verlaufsbeobachtungen sowie die dopaminerge Stimulation mit Apomorphin, die Kernspintomographie und die single photon emission computed tomography (SPECT) mit dem Liganden Jodobenzamid für die Untersuchungen eingesetzt. Die Ergebnisse der zu untersuchenden Hypothesen können wie folgt zusammengefaßt werden: Bei bis dato unbehandelten Patienten mit akinetisch-rigiden Syndromen kann mittels einer Testinjektion von 3 -5 mg Apomorphin mit einer Sensitivität und Spezifität von etwa 90 % das Ansprechen auf eine L-Dopa-Langzeittherapie korrekt vorhergesagt werden. Das IBZM-SPECT ist in der Lage, mit einem positiven Vorhersagewert von 72 % und einem negativen Vorhersagewert von 89 % das Ansprechen auf eine spätere orale L-Dopa-Therapie korrekt vorherzusagen. In der Langzeitbeobachtung entwickeln sich aus den 10 Patienten im Frühstadium, die nach den klinischen Kriterien nicht eindeutig zuzuordnen waren, die eine verminderte Ligandenaufnahme haben, und die nicht auf Apomorphin reagieren, 7 ein "atypisches" Parkinson-Syndrom im Sinne einer MSA (n = 5), einer PSP (n = 1) oder einer CBGD (n = 1) Von diesen 7 Patienten hatten 5 bereits in der Erstdiagnostik eine verminderte IBZM-Bindung im SPECT. Vaskuläre Syndrome entwickeln nicht nur das klinische Bild des "lower body parkinsonism", sondern auch Zeichen einer vertikalen Blickparese mit Demenz bei akinetisch-rigidem Syndrom. Bei gut 30 % der untersuchten Patienten mit der klinischen Diagnose der PSP wurden vaskulär gedeutete Läsionen im MRT in der weißen Substanz und in den Basalganglien gefunden; diese hatten signifikant häufiger eine normale Bindung im IBZM-SPECT und unterschieden sich von degenerativen PSP-Patienten mit erniedrigter IBZM-Bindung. Wir deuten diese Patienten als eine andere nosologische Entität. Außerdem konnte erstmals gezeigt werden, daß bei Patienten, die klinisch wahrscheinlich oder möglicherweise eine PSP hatten, der antero-posteriore Durchmesser des Mittelhirns nach kernspintomographischer Messung mit der Ligandenaufnahme im IBZM-SPECT korreliert. Dies gilt für die Gesamtgruppe der untersuchten Patienten, aber auch für die Untergruppe, die keine hyperintensen T2-Läsionen haben. Diese Ergebnisse bedeuten für den klinische Alltag, daß nach einer sorgfältigen klinischen Untersuchung von Patienten mit Parkinson-Syndromen, die die gültigen Kriterien für die klinische Diagnose des Morbus Parkinson, der progressiven supranukleären Blickparese und auch der Multi-System-Atrophie beachtet, das Kernspintomogramm und das IBZM-SPECT notwendige Untersuchungen in der korrekten ätiologischen Zuordnung von Parkinson-Syndromen, insbesondere auch der progressiven supranukleären Blickparese sind. Dies ist für die weitere Planung insbesondere von neuroprotektiven Strategien bei diesen Krankheitsbildern von essentieller Bedeutung.<br>One hundred thirty eight patients, in whom the diagnoses of Parkinson's disease or progressive supranuclear palsy (PSP) was suspected, were examined in order to improve the differential diagnosis of these syndromes. We observed the clinical course, tested for the dopaminergic response to the dopamine receptor agonist apomorphine, and used the technical measures of MRI and single photon emission computed tomography (SPECT) with the ligand 123[I] Iodobenzamide (IBZM) in all patients. Apomorphine correctly predicts the response to long term levodopa therapy with a sensitivity and specificity of approximately 90 % in previously untreated parkinsonian patients. The positive predictive value and negative predictive value of IBZM SPECT are 72 % and 89 % respectively. Ten early stage patients, who could not explicitly be assigned according to the clinical criteria, who had reduced IBZM SPECT binding and who did not respond to apomorphine, developed atypical parkinsonian syndromes in the sense of multiple system atrophy (MSA, n = 5), PSP (n = 1) or corticobasal degeneration (n = 1). Five of these 7 patients had a reduced IBZM binding in SPECT already during the early stage. Vascular syndromes depict not only the clinical picture of lower body parkinsonism, but also of supranuclear palsy, dementia and akinetic-rigid syndrome. We found MRI lesions within the white matter and the basal ganglia in about 30 % of our patients with the clinical diagnosis of PSP; we interpreted these lesions as vascular. In contrast to patients without these MRI lesions, who had decreased IBZM binding in SPECT, these patients with vascular disorders had significantly more frequently a normal binding. We interpret our results in that way that these patients represent another nosological entity. In addition, we showed for the first time that the anteroposterior diameter (measured in midbrain MRI scans) correlates to ligand binding measured by IBZM SPECT. This applies as well to all PSP patients as well to the sub-group without hyperintense MRI lesions. The in vivo diagnosis of bradykinetic syndromes relies on clinical examination; after careful observation of valid criteria for Parkinson's disease, PSP and MSA, MRI and IBZM SPECT are mandatory for the correct differential diagnosis, especially for PSP. This applies in particular, if neuroprotective therapies are to be investigated.
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4

Gerisch, Sebastian [Verfasser], and Barbara [Akademischer Betreuer] Zieger. "Molekulargenetische Untersuchung von Patienten mit Bernard-Soulier-Syndrom und Morbus Glanzmann." Freiburg : Universität, 2013. http://d-nb.info/1123474486/34.

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5

Sultan, Hazar. "Att bära historien i sin kropp : Post Traumatic Slave Syndrome i Toni Morrisons roman The Bluest Eye." Thesis, Södertörns högskola, Litteraturvetenskap, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:sh:diva-34591.

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To Carry History in One’s Body – Post Traumatic Slave Syndrome in Toni Morrison’s Novel The Bluest Eye. The world in which we live in is dominated by ideology. This essay will explore the ideology of racism and investigates how it operated during and after the slave trade in the USA. The main focus is how the racist ideology has affected the black community in the USA during the first decades of the twentieth century. When the traumatic events of the slave trade ended the black community never got the chance to heal from the several hundred years long trauma. Toni Morrison’s novel The Bluest Eye depicts a community in pain due to the racist society that surrounds them. It is set in a time after the First World War when black families aimed to establish a stable life but were hindered due to various reasons. Therefore, this essay uses Joy DeGruy’s thoughts on the matter of trauma in the black community in the USA. By using her book Post Traumatic Slave Syndrome: America’s Legacy Of Enduring Injury and Healing along with Frantz Fanon’s iconic text Black Skin, White Masks this essay investigates how the legacy of slavery has affected the black community after the slave trade. This essay looks into the following behavioral patterns, formulated by DeGruy: Vacant Esteem, Ever Present Anger and Racist Socialization.<br>Världen domineras av ideologier. Denna uppsats utforskar rasismens ideologi både under och efter slavhandeln i USA. Uppsatsens huvudfokus är hur den rasistiska ideologin har påverkat den svarta befolkningen i USA under nittonhundratalets första årtionden. När slaveriets trauma tog slut fick det svarta samhället aldrig chansen att bearbeta och läka det flera hundra år långa traumat. Toni Morrisons roman The Bluest Eye skildrar ett samhälle som präglas av smärta till följd av en rasistisk omgivning. Romanen utspelar sig efter första världskriget, en tid då svarta familjer ämnade etablera ett stabilt liv men som av olika anledningar hindrades. Denna uppsats använder Joy DeGruys tankar om trauma hos det svarta samhället i USA. Hennes bok Post Traumatic Slave Syndrome: America’s Legacy Of Enduring Injury and Healing tillsammans med Frantz Fanons nyckeltext Black Skin, White Masks används i denna uppsats för att undersöka hur slaveriet påverkat det svarta samhället efter dess avskaffande. Uppsatsen tittar närmare på följande beteendemönster, som formulerats av DeGruy: Vacant Esteem, Ever Present Anger och Racist Socialization.
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Lindel, Claudius Maximilian [Verfasser]. "Charakterisierung von Hautmanifestationen beim Morbus Parkinson und atypischen Parkinson- Syndromen / Claudius Maximilian Lindel." Kiel : Universitätsbibliothek Kiel, 2016. http://d-nb.info/1081935227/34.

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Formby, Caroline. "Executive and attentional function in adults with Tourette syndrome with and without co-morbid obsessive compulsive disorder." Thesis, University of Birmingham, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397537.

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Mehl, Arne [Verfasser]. "Nicht-motorische Symptome bei Patienten mit neudiagnostiziertem Morbus Parkinson und Restless-Legs-Syndrom / Arne Mehl." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2021. http://d-nb.info/1234982501/34.

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Bolstorff, Inga Kristina [Verfasser]. "Intertemporal Choice und Sprachverständnis bei Morbus Parkinson und dem Restless Legs Syndrom / Inga Kristina Bolstorff." Lübeck : Zentrale Hochschulbibliothek Lübeck, 2017. http://d-nb.info/1142648079/34.

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Drude, Laura Dorothee [Verfasser]. "Charakterisierung frühester motorischer Merkmale beim Morbus Parkinson mit besonderer Abgrenzung zu Dystonie-Syndromen / Laura Dorothee Drude." Lübeck : Zentrale Hochschulbibliothek Lübeck, 2013. http://d-nb.info/1042266441/34.

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Braun, Maria. "Einfluss der intraoperativen Sedierung auf den klinischen Effekt der tiefen Hirnstimulation des Nucleus subthalamicus bei Patienten mit idiopatischem Parkinson-Syndrom." Doctoral thesis, Universitätsbibliothek Leipzig, 2011. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-74125.

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Ziel: Diese retrospektive Analyse sollte die Besserung nach tiefer Hirnstimulation in Abhängigkeit der verwendeten Medikamente zur Sedierung während der Elektrodenplatzierung vergleichen. Einführung: Deep brain stimulation (DBS) stellt eine effektive Therapieoption für Patienten mit fortgeschrittenem Morbus Parkinson dar. Sowohl die intraoperative Aktivität der subcortikalen Neurone als auch die intraoperative klinische Testung ist wichtig, um die exakte Elektrodenplatzierung zu kontrollieren. Beides könnte durch die Gabe von Sedativa, die intraoperativ zur Gewährleistung des Patientenkomforts und zur Optimierung der Operationsbedingungen verabreicht werden, beeinflußt werden. Material und Methoden: Wir analysierten retrospektiv die Daten von 47 Patienten, die Elektroden zur DBS implantiert bekamen. 7 Patienten erhielten während des Eingriffes keinerlei sedierende Medikation, 40 Patienten wurden Sedativa und/oder Analgetika verabreicht.( Propofol allein: n=13, Propofol und Remifentanyl: n=9, Propofol und Alfentanil: n=1, Remifentanil allein: n=13, Alfentanil und Midazolam: n=4) Ergebnisse: Es ergaben sich keine signifikanten Unterschiede zwischen den 5 Patientengruppen bezüglich der Besserung der Parkinson Symptome, gemessen an Hand der Unified Parkinson`s Disease Rating Scale Part III (UPDRS III) oder der Reduktion der Parkinson Medikamentendosis, analysiert als Levodopa Äquivalent Units (LEU). Untersuchten wir die Daten der Patienten, die Propofol während der Platzierung erhielten, zeigte sich ein signifikant schlechteres Ergebnis sowohl determiniert in der UPDRS III als auch in der LEU, verglichen mit den Patienten, die kein Propofol erhielten. Bei Einteilung der Patienten in Gruppen, die ein Opioid während der Platzierung erhielten, und Patienten die kein Opioid erhielten fielen keine signifikanten Unterschiede auf. Ergebnisse: Diese Daten könnten ein erster Hinweis sein, Propofol vorsichtig bei der Platzierung der Elektroden zur tiefen Hirnstimulation einzusetzen. Ein möglicher negativer Effekt des Propofols auf den klinischen Effekt der tiefen Hirnstimulation des Nucleus subthalamicus sollte aber in prospektiven Studien analysiert werden.
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Musnicky, Elizabeth Dowden. "A mixed methods investigation into the relationship between co-morbid depression and level of social impairment in adolescents with Asperger's Syndrome." CAPELLA UNIVERSITY, 2013. http://pqdtopen.proquest.com/#viewpdf?dispub=3499338.

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Wittmann, Constanze [Verfasser], and Sandra [Akademischer Betreuer] Becker-Bense. "Idiopathisches Parkinson-Syndrom bei Patienten mit benignem paroxysmalem Lagerungsschwindel, Morbus Menière sowie akuter einseitiger Vestibulopathie / Constanze Wittmann ; Betreuer: Sandra Becker-Bense." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2019. http://d-nb.info/1200353617/34.

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Müller, Ann-Kristin [Verfasser], Philipp [Gutachter] Albrecht, and Rainer [Gutachter] Guthoff. "Quantifizierung retinaler Neurodegeneration mittels optischer Kohärenztomographie bei Multipler Sklerose, Parkinson-Syndromen und Morbus Wilson / Ann-Kristin Müller ; Gutachter: Philipp Albrecht, Rainer Guthoff." Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2016. http://d-nb.info/1119300541/34.

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Anjos, Ana Elisa de Paula Brandão dos. "Síndrome metabólica relacionada à composição corporal, ingestão alimentar e condição periodontal de pacientes candidatos à cirurgia bariátrica." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/25/25144/tde-23012019-151533/.

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O objetivo do presente estudo foi comparar a composição corporal, ingestão alimentar e condição periodontal de pacientes obesos mórbidos com síndrome metabólica (SM) e sem SM, candidatos à cirurgia bariátrica. O estudo foi de caráter observacional, transversal e analítico, envolvendo pacientes com índice de massa corporal (IMC) entre 40,0 a 49,9 kg/m² e idade entre 18 e 55 anos, atendidos no ambulatório de Cirurgia Bariátrica do Hospital Amaral Carvalho (HAC), de Jaú - SP. A amostra foi constituída por 60 indivíduos, divididos em dois grupos: grupo com SM (G1-com SM = 30) e grupo sem SM (G2-sem SM = 30), os quais foram avaliados no pré-operatório da cirurgia bariátrica. As variáveis analisadas foram: idade, escolaridade, renda per capita, peso, altura, IMC, circunferência da cintura, circunferência do quadril, relação cintura-quadril, composição corporal por bioimpedância elétrica, ingestão alimentar, consumo de bebida alcoólica, índice de sangramento gengival, recessão gengival, profundidade da sondagem, índice de placa e índice de cálculo. Foram adotados os testes Qui-quadrado e teste t não pareado, para verificar a associação entre SM e o desfecho bucal (doença periodontal), seguidos de regressão linear multivariada e correlação Scatter-Plot (p<0,05). Não houve diferença significativa entre os grupos quanto à composição corporal e a ingestão alimentar. O G1-com SM apresentaram maior idade (p=0,0006) e maior número de dentes ausentes (p=0,0002). Quanto às condições periodontais, a bolsa vestibular ou lingual de 0-3mm foram mais prevalentes em G2-sem SM (p=0,0002), recessão vestibular ou lingual =0 também foram maior (p<0,0003). Concluiu-se que pacientes com SM apresentam piores condições periodontais do que os sem SM. A atenção integral à saúde destes pacientes se faz necessária através de equipe multiprofissional, com a participação do cirurgião dentista.<br>The aim of the present study was to compare the body composition, food intake and periodontal condition of morbidly obese patients with metabolic syndrome (MS) and without MS, candidates for bariatric surgery. The study was observational, crosssectional and analytical, involving patients with body mass index (BMI) between 40.0 and 49.9 kg / m² and aged between 18 and 55 years, attended at the ambulatory of Bariatric Surgery of the Hospital Amaral Carvalho (HAC), Jaú - SP. The sample consisted of 60 subjects, divided into two groups: group with MS (G1-with SM = 30) and group without MS (G2-without SM = 30), which were evaluated in the preoperative period of bariatric surgery. The variables analyzed were: age, education, per capita income, weight, height, BMI, waist circumference, hip circumference, waist to hip ratio, body composition by electric bio impedance, food intake, alcohol consumption and gingival bleeding index, gingival recession, probing pocket depth, plaque index and calculus index. Chi-square tests and unpaired t test were used to verify the association between MS and buccal outcome (periodontal disease), followed by multivariate linear regression and Scatter-Plot correlation (p <0.05). There was no significant difference between the groups regarding body composition and food intake. The G1-with SM showed older age (p = 0.0006) and greater number of missing teeth (p = 0.0002). As for periodontal conditions, the vestibular or lingual pouch of 0-3mm were more prevalent in G2-without SM (p = 0.0002), buccal or lingual recession = 0 were also higher (p <0.0003).It was concluded that patients with MS have worse periodontal conditions than those without MS. The integral health care of these patients is necessary through a multiprofessional team, with the participation of the dentist surgeon.
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Almeida, André Guerra de. ""Correlações entre achados laboratoriais e doença hepática gordurosa não alcoólica em pacientes portadores de obesidade mórbida"." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/5/5154/tde-11042006-163614/.

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Devido a controvérsias sobre a freqüência, diagnóstico e possibilidade de progressão para doença crônica da degeneração gordurosa do fígado em portadores de obesidade mórbida, planejou-se uma investigação retrospectiva em pacientes candidatos à cirurgia bariátrica. Foram analisados 60 indivíduos com indicação de gastroplastia com derivação intestinal em Y de Roux. Os pacientes foram submetidos a questionário clínico, provas bioquímicas e posteriormente, à biópsia hepática intraoperatória. A freqüência de EHNA e esteatose hepática foi elevada, e detectou-se 5% de cirrose. Na análise univariada houve correlação de diversos testes bioquímicos com as enzimas hepáticas. Na análise multivariada a albumina foi a variável determinante; apesar de seu debilitado valor preditivo. Nestas condições, apenas a avaliação histológica configura-se como critério definitivo para diagnóstico e acompanhamento desta população<br>Because of controversies about frequency, diagnosis and possibility of progression toward chronic disease of fatty degeneration of the liver in morbidly obese patients, a retrospective study was done in patients who underwent bariatric surgery. Sixty individuals with indication for gastroplasty with Roux-en-Y jejunal bypass were enrolled. They were submitted to clinical questionnaire, biochemistry tests and subsequently, intraoperative liver biopsy. Frequency of NASH and steatosis was high, and 5.0% suffered from cirrhosis. In univariate analysis there was correlation between various biochemical measurements and liver enzymes. In multivariate analysis only serum albumin was a determinant variable, with low predictive value. The histological grading system remains the definitive criterion for diagnosis and follow-up of this population
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Weber, Katharine. "Cyclic vomiting syndrome: a retrospective chart review." Thesis, 2014. https://hdl.handle.net/2144/15309.

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Purpose: We aim to characterize a large cohort of CVS patients seen at MGH in order to better understand this disorder. In addition, as CVS patients are known to have a higher cannabis use than those with other functional disorders, characteristics specific to CVS marijuana user patients have yet to be determined. Therefore, we aim to determine the variables that are patient specific predictors of cannabis use in CVS. Methods: All patients with a CVS diagnosis were seen at our facility as inpatient, outpatient or in the emergency department and medical record numbers were identified via Research Patient Data Registry (RPDR) query search tool. From the medical records, we verified a diagnosis of CVS based on Rome III criteria and collected information on demographics, co-morbidities, health care utilization and substance abuse history over a 16 year time period (1997-2013). We then proposed patient specific predictor variables of marijuana use based on our experience with CVS patients and incorporated these variables into a model for predicting marijuana use. We used this model to examine the effect of patient characteristics on marijuana use via logistic regression with estimation of odds ratio and 95% confidence ratio. Results: A total of 91 CVS patients were obtained, 67% of which were male with a mean age of 28 years old, average age of first attack of 20.2 years and employment or full time student status in 62% of patients. Psychiatric conditions were present in 73% of individuals with anxiety present in 50% and depression in 47%. The presence of a chronic pain syndrome was found in 40%. Marijuana use was present in 76% of our cohort, daily alcohol use 53%, and narcotic use 27%. Men with CVS were at significantly greater risk for marijuana use compared to women (OR .23, 95% CI .07-.77) as well as daily alcohol use (OR 5.26, 95% CI 1.469-18.828). Individuals with a chronic pain syndrome were at significantly lower risk for cannabis use (OR .15, 95% CI .039-.575) and psychiatric illness, age and narcotic use were found not to be associated with marijuana use. On average, individuals presented to the ED 1.6 times/year with one patient having a high of 208 ED visits/year. Of those that presented more than once during the time period in study there was a median interval between visits of 103.6 days. Conclusion: We found that CVS patients had significant psychiatric co-morbidities, chronic pain syndromes, and history of substance abuse. We found male gender and alcohol use to be two variables that were predictors of marijuana use in the CVS population while the presence of a chronic pain syndrome decreased the likelihood of marijuana use. The significant employment rate and full time student status of our cohort suggests a higher degree of functionality. Further prospective studies are needed to determine the role of marijuana use in the CVS population in terms of quality of life, health care utilization, and severity of disease.
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Kover, Sara T. "Expressive language in male adolescents with Fragile X Syndrome with and without co-morbid autism a comparison with Down Syndrome /." 2007. http://catalog.hathitrust.org/api/volumes/oclc/191913746.html.

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Thesis (M.S.)--University of Wisconsin--Madison, 2007<br>Typescript. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 41-52).
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Schäfer, Sophie [Verfasser]. "Molekulargenetische Untersuchung von Patienten mit Bernard-Soulier-Syndrom, Hermansky-Pudlak-Syndrom und Morbus Glanzmann / vorgelegt von Sophie Schäfer." 2010. http://d-nb.info/1008795569/34.

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20

Schubart, Christina [Verfasser]. "Molekulargenetische Untersuchung der DNA von Patienten mit Morbus Glanzmann, Hermansky-Pudlak-Syndrom und Bernard Soulier Syndrom / vorgelegt von Christina Schubart." 2009. http://d-nb.info/994756267/34.

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21

Knobloch, Lisanne Caroline. "Molekulare Pathogenese Morbus Cushing: Auf der Suche nach möglichen Zielproteinen der Ubiquitin-spezifischen-Peptidase 8 in corticotropen Hypophysenadenomen." Doctoral thesis, 2020. https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-209503.

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MC ist eine seltene, lebensbedrohliche Erkrankung mit einer bisher unvollständig verstandenen Pathogenese. Die zugrundeliegenden ACTH-produzierenden Adenome beherbergen in 35-62% somatische Mutationen imUSP8 Gen. Die aktivierenden Mutationen machen USP8 hyperaktiv und verhindern damit den Abbau von Zielproteinen. Ziel dieser Studie war es, den Einfluss von USP8-Mutationen auf Proteine, die in MC dereguliert sind, zu identifizieren. Zudem wird untersucht, ob es Zusammenhänge der klinischen Daten bei Patienten mit bekanntem Mutationsstatus gibt. Für die Analyse der klinischen Daten wurden Patienten eingeschlossen, die sich zwischen 1997 und 2016 einer transsphenoidalen Operation in der Uniklinik Hamburg, Würzburg oder Erlangen unterzogen haben. Die Daten wurden von 125 unterschiedlichen Patienten mit 127 corticotropen Tumoren ausgewertet (34 USP8 mutiert, 93 USP8 WT). Von dem obengenannten Patientenkollektiv der ACTH-produzierenden Tumore für die Auswertung der klinischen Daten, lagen uns insgesamt Proben von 78 dieser Tumore zur immunhistochemischen Färbung vor. Zudem wurde weitere Proben von Hypophysenadenomen und normalen Hypophysen als Vergleichsgruppe gefärbt und untersucht. Insgesamt wurden 111 Hypophysenadenome sowie 5 normale Hypophysen untersucht. Die bereits mit MC assoziierten deregulierten Proteine (USP8, EGFR, P27/Kip1, Cyclin E, CRHR1,AVPR1b, TR4, HSP90, CREB, pCREB, PKA) wurden immunhistochemisch untersucht. Während bei den USP8 mutierten Tumoren die Patienten zu 100% weiblich waren, ergab die relative Häufigkeit der Frauen bei den WT Tumoren nur 62%.Die Patienten mit USP8 Mutation waren bei der ED des MC im Schnitt 10 Jahre jünger als die vom WT Der basale präoperative Cortisolspiegel zeigte sich signifikant höher in mutierten Tumoren und die ACTH-Spiegel ergaben ähnliche Werte bei WT und mutierten Hypophysenadenomen. Die Tumorgröße war signifikant kleiner in den USP8mutierten Adenomen. Während die Invasivitätsrate der Tumore sich ähnlich zeigte, lag bei den WT Adenomen signifikant häufiger eine subtotale Resektion des Tumors vor als bei den mutierten Tumoren vor. Die Rezidivrate ergab keinen signifikanten Unterschied. Während die meisten der mittels Immunhistochemie untersuchten Proteine keinen Unterschied in der Expression zwischen USP8 mutierten und WT Tumoren zeigten, war der Zellzyklusinhibitor p27/Kip1 signifikant reduziert in mutierten Tumoren Im Gegensatz dazu, zeigte sich das Chaperon HSP90 im Nukleus stärker exprimiert und die Phosphorylierung des Transkriptionsfaktor CREB war erhöht in mutierten Tumoren im Vergleich zum WT .Das lässt vermuten, dass p27/Kip1, HSP90 und pCREB direkte oder indirekte Zielproteine von USP8 sind und daher potenzielle Ziele für therapeutische Ansätze bei Patienten mit MC sein könnten<br>MC is a rare, life-threatening disease with a previously incompletely understood pathogenesis. The underlying ACTH-producing adenomas harbor 35-62% somatic mutations in the USP8 gene. The activating mutations make USP8 hyperactive and thus prevent the degradation of target proteins. The aim of this study was to identify the impact of USP8 mutations on proteins that are deregulated in MC. It also investigates whether there are links between clinical data in patients with known mutation status. For the analysis of the clinical data, patients who underwent transsphenoidal surgery at the University Hospital Hamburg, Würzburg or Erlangen between 1997 and 2016 were included. The data were evaluated from 125 different patients with 127 corticotropic tumors (34 USP8 mutated, 93 USP8 WT). From the above-mentioned patient collective of ACTH-producing tumors for the evaluation of the clinical data, we had a total of samples of 78 of these tumors for immunohistochemical staining. In addition, further samples of pituitary adenomas and normal pituitary glands were dyed and examined as a comparison group. A total of 111 pituitary adenomas and 5 normal pituitary glands were examined. The deregulated proteins already associated with MC (USP8, EGFR, P27/Kip1, Cyclin E, CRHR1,AVPR1b, TR4, HSP90, CREB, pCREB, PKA) were investigated immunohistochemically. While in THE USP8 mutated tumors, the patients were 100% female, the relative frequency of women in the WT tumors yielded only 62%. Patients with USP8 mutation were on average 10 years younger in THE MC's ED than those of WT The basal preoperative cortisol levels were significantly higher in mutated tumors, and ACTH levels showed similar levels in WT and mutated pituitary denomas. The tumor size was significantly smaller in the USP8 mutated adenomas. While the invasive rate of the tumors was similar, the WT adenomas were significantly more likely to have subtotal resection of the tumor than the mutant Tumors. The recurrence rate did not show a significant difference. While most of the proteins studied using immunohistochemistry showed no difference in expression between USP8 mutated and WT tumors, the cell cycle inhibitor p27/Kip1 was significantly reduced in mutated tumors. In contrast, the chaperone HSP90 was more strongly expressed in the nucleus and the phosphorylation of the transcription factor CREB was increased in mutated tumors compared to WT . This suggests that p27/Kip1, HSP90 and pCREB are direct or indirect target proteins of USP8 and could therefore be potential targets for therapeutic approaches in patients with MC
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22

Wagner, Jennifer Lynne. "Effects of coadministration of D-Napvsipq [NAP] and D-Sallrsipa [SAL] on spatial learning after developmental alcohol exposure." Thesis, 2013. http://hdl.handle.net/1805/5066.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Despite warnings about the dangers of drinking during pregnancy, little progress has been made in reducing alcohol drinking among women of childbearing age. Even after the recognition of pregnancy, 15% of women continue to drink, 3% of which admit to binge drinking. Because we cannot stop women from drinking during pregnancy, and many children with fetal alcohol spectrum disorders (FASD) are adopted, there is a significant need to develop postnatal interventions that can improve the long-term outcome of children adversely affected by prenatal alcohol exposure. This thesis aims to evaluate one promising new treatment in the rehabilitation or rescue of specific learning deficits long after the damage has occurred. The treatment evaluated herein (40µg D-NAP + 40µg D-SAL) has long been used in the prevention of the detrimental effects of long-term and binge-like alcohol exposures in rodent models of fetal alcohol syndrome and FASD. Until recently this peptide treatment had only been shown to be effective in preventing some of the consequences of alcohol exposure when administered concurrently with the prenatal alcohol exposure. A recent report by Incerti and colleagues (2010c), however, reported that these peptides could completely reverse a profound spatial learning deficit induced by one episode of a heavy binge-like alcohol exposure (5.9g.kg in a single intraperitoneal injection) on gestational day 8 (G8) in C57BL/6 mice. In that report, the peptide treatment was administered starting in late adolescence, beginning three days prior to and throughout water maze training, and the profound deficits in their alcohol-placebo group were completely eliminated in the alcohol-peptide group. There are currently no FDA-approved treatments for FASD. An effective treatment for the cognitive and behavioral dysfunctions suffered by the 1% of people born today could potentially improve the lives of millions of children and adults. The first aim of this thesis was to determine whether the peptide treatment could reverse the significant spatial learning deficits we have demonstrated in adult C57BL/6 mice given high-dose binge-like alcohol exposure (2.5 g/kg in each of two intraperitoneal injections separated by two hours) on postnatal day (P)7. When administered three days prior to and throughout water maze testing (P67-76), the peptide treatment had no effect on spatial learning. The second aim sought to determine whether the same peptide treatment could reverse water maze spatial learning deficits in G8 binge-like exposure models, as reported by Incerti et al. (2010c). For this analysis, the first study used a different binge-like alcohol exposure model that is more commonly used than that employed by the Incerti et al. (2010c) study, namely administration of 2.8g/kg in each of two intraperitoneal injections separated by four hours (Sulik et al., 1981). This model has been shown to produce high peak blood alcohol concentrations and neuroanatomical aberrations in the hippocampal formation and septal regions (Parnell et al., 2009), which have been implicated in learning and memory. Surprisingly, this G8 binge-like alcohol exposure failed to produce a spatial learning deficit, undermining the usefulness of this model in evaluating the peptide effects. In direct contrast to the outcomes of Incerti et al. (2010c), the G8 Webster alcohol exposure was also unable to produce any deficits in acquisition of spatial learning in the Morris water maze. Surprisingly, neither of the heavy binge-like alcohol exposures on G8 were able to produce spatial learning deficits in the Morris water maze. The binge-like alcohol exposure on P7 did yield the expected spatial learning deficit, but the peptide treatment was unsuccessful in recovering water maze learning. These findings fail to support oral administration of 40µg D-NAP and 40 µg D-SAL as a potential therapy for postnatal alcohol-induced spatial learning deficits in adult mice.
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23

Schmidt, Kerstin [Verfasser]. "Molekulargenetische Untersuchungen von Patienten mit Hermansky-Pudlak-Syndrom und von Patienten mit Morbus Glanzmann / vorgelegt von Kerstin Schmidt." 2009. http://d-nb.info/996671072/34.

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24

Schneider, Markus. "Ein Leben mit Schmerzen - Formen der psychosozialen Bewältigung bei Morbus-Sudeck-Patienten." Doctoral thesis, 2012. http://hdl.handle.net/11858/00-1735-0000-000D-F02C-9.

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25

Braun, Maria. "Einfluss der intraoperativen Sedierung auf den klinischen Effekt der tiefen Hirnstimulation des Nucleus subthalamicus bei Patienten mit idiopatischem Parkinson-Syndrom." Doctoral thesis, 2010. https://ul.qucosa.de/id/qucosa%3A11251.

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Ziel: Diese retrospektive Analyse sollte die Besserung nach tiefer Hirnstimulation in Abhängigkeit der verwendeten Medikamente zur Sedierung während der Elektrodenplatzierung vergleichen. Einführung: Deep brain stimulation (DBS) stellt eine effektive Therapieoption für Patienten mit fortgeschrittenem Morbus Parkinson dar. Sowohl die intraoperative Aktivität der subcortikalen Neurone als auch die intraoperative klinische Testung ist wichtig, um die exakte Elektrodenplatzierung zu kontrollieren. Beides könnte durch die Gabe von Sedativa, die intraoperativ zur Gewährleistung des Patientenkomforts und zur Optimierung der Operationsbedingungen verabreicht werden, beeinflußt werden. Material und Methoden: Wir analysierten retrospektiv die Daten von 47 Patienten, die Elektroden zur DBS implantiert bekamen. 7 Patienten erhielten während des Eingriffes keinerlei sedierende Medikation, 40 Patienten wurden Sedativa und/oder Analgetika verabreicht.( Propofol allein: n=13, Propofol und Remifentanyl: n=9, Propofol und Alfentanil: n=1, Remifentanil allein: n=13, Alfentanil und Midazolam: n=4) Ergebnisse: Es ergaben sich keine signifikanten Unterschiede zwischen den 5 Patientengruppen bezüglich der Besserung der Parkinson Symptome, gemessen an Hand der Unified Parkinson`s Disease Rating Scale Part III (UPDRS III) oder der Reduktion der Parkinson Medikamentendosis, analysiert als Levodopa Äquivalent Units (LEU). Untersuchten wir die Daten der Patienten, die Propofol während der Platzierung erhielten, zeigte sich ein signifikant schlechteres Ergebnis sowohl determiniert in der UPDRS III als auch in der LEU, verglichen mit den Patienten, die kein Propofol erhielten. Bei Einteilung der Patienten in Gruppen, die ein Opioid während der Platzierung erhielten, und Patienten die kein Opioid erhielten fielen keine signifikanten Unterschiede auf. Ergebnisse: Diese Daten könnten ein erster Hinweis sein, Propofol vorsichtig bei der Platzierung der Elektroden zur tiefen Hirnstimulation einzusetzen. Ein möglicher negativer Effekt des Propofols auf den klinischen Effekt der tiefen Hirnstimulation des Nucleus subthalamicus sollte aber in prospektiven Studien analysiert werden.
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26

Rydzyková, Tereza. "Vliv morfinu na neurogenezi a neurodegeneraci v mozku potkana." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-367807.

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Morfin is a clinically used analgesic drug but also an abusive drug. It has an impact on a wide range of CNS regions (nucleus accumbens, ventral tegmentum, hippocampus, etc.) and affects their functions, e.g. cognitive functions or anxiety. Although the results of so far published studies are often contradictory, the effects on cell death and proliferation in the CNS have been demonstrated. In this work, we focused on how chronic administration of morphine and subsequent withdrawal of this drug affects neurogenesis and neurodegeneration in the rat brain and how it affects some markers involved in the addiction and post-drug-induced condition. We have succeeded in introducing immunohistochemical markers for monitoring neurogenesis (bromodeoxyuridine and doublecortin) and neurodegeneration (Fluoro-Jade C) and for detection of selected neuromodulatory peptides (cholecystokinin and neuropeptide Y). We have found that morphine may influence the process of neurogenesis and neurodegeneration, but its effects differ in different CNS structures (nucleus accumbens, hippocampus, and amygdala). Key words: Morphine, brain, rat, withdrawal syndrom, neurogenesis, neurodegeneration
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27

Bertram, Nick. "Retrospektive Analyse von Diagnostik, Klinik und Verlauf bei Patienten mit Vena-cava-superior-Syndrom (obere Einflussstauung)." Doctoral thesis, 2015. http://hdl.handle.net/11858/00-1735-0000-0022-5D98-3.

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28

Σδράλης, Ηλίας. "Επίδραση της επιμήκους γαστρεκτομής με ή χωρίς εκτομή του επιπλόου στην ευαισθησία στην ινσουλίνη, στην έκκριση των ορμονών του γαστρεντερικού και στα επίπεδα των λιποκυτταροκινών σε ασθενείς με σοβαρού βαθμού παχυσαρκία". Thesis, 2014. http://hdl.handle.net/10889/7993.

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Ο αυξημένος σπλαχνικός λιπώδης ιστός αποτελεί σημαντικό παράγοντα κινδύνου για μεταβολικές επιπλοκές, που συσχετίζονται με την παχυσαρκία, και προάγει μία ήπιου βαθμού χρόνια φλεγμονώδη διαδικασία. Το επίπλουν έχει από καιρό εμπλακεί στη, σχετιζόμενη με την παχυσαρκία, μεταβολική δυσλειτουργία. Αυτό βασίζεται στη σημαντική του λειτουργία, της έκκρισης αντιποκινών. Η ιδέα της εκτομής του μείζονος επιπλόου, στον ίδιο χρόνο με μία βαριατρική επέμβαση, έχει προταθεί για την βελτίωση των μεταβολικών μεταβολών και την μεγιστοποίηση της απώλειας βάρους. Ο σκοπός της συγκεκριμένης μελέτης ήταν να προσδιορίσει εάν η εκτομή του μείζονος επιπλόου, στον ίδιο χρόνο με τη λαπαροσκοπική επιμήκη γαστρεκτομή, έχει κάποια επίδραση στο μεταβολικό προφίλ, την έκκριση των αντιποκινών, το στάτους της φλεγμονής και την απώλεια βάρους, σε βραχύ ή μακρό βάθος χρόνου. ΜΕΘΟΔΟΙ: Τριάντα – ένας παχύσαρκοι ασθενείς (Δείκτης Μάζας Σώματος (ΒΜΙ): 42.49±2.03 Kg/m2 ) τυχαιοποιήθηκαν σε δύο ομάδες, λαπαροσκοπικής επιμήκους γαστρεκτομής, με ή χωρίς επιπλεκτομή. Αντιπονεκτίνη, Ομεντίνη, Ιντερλευκίνη-6 (IL-6), tumor necrosis factor-α ((TNF-α), C-αντιδρώσα πρωτεΐνη υψηλής ευαισθησίας (hs-CRP), high-density lipoprotein (HDL) χοληστερόλη, γλυκόζη νηστείας, ινσουλίνη και αντίσταση στην ινσουλίνη (εκτιμωμένη με εφαρμογή -­‐ 106 -­‐ Quickie Test) μετρήθηκαν και εκτιμήθηκαν προεγχειρητικά και 7 μέρες, 1, 3 και 12 μήνες μετεγχειρητικά. ΑΠΟΤΕΛΕΣΜΑΤΑ: Κατά τη μετεγχειρητική παρακολούθηση, στη διάρκεια του πρώτου χρόνου, ο δείκτης μάζας σώματος μειώθηκε αξιοσημείωτα και συγκριτικά και στις δύο ομάδες (Ρ<0.001). Τα επίπεδα της ινσουλίνης, IL-6 και hs-CRP, μειώθηκαν σημαντικά σε σχέση με τις τιμές αναφοράς (προεγχειρητικά) (Ρ<0.05) και στις δύο ομάδες, χωρίς στατιστικά σημαντική διαφορά μεταξύ τους. Τα επίπεδα αντιπονεκτίνης και HDL αυξήθηκαν ομοίως και σημαντικά, συγκρινόμενα με τα επίπεδα αναφοράς (Ρ<0.001) και στις δύο ομάδες. Τα επίπεδα της Ομεντίνης αυξήθηκαν σημαντικά (Ρ<0.05) στην ομάδα ελέγχου (επιμήκης γαστρεκτομή, χωρίς εκτομή του επιπλόου) και παρέμειναν χαμηλά στην ομάδα της επιπλεκτομής (επιμήκης γαστρεκτομή + επιπλεκτομή), στο ένα έτος μετεγχειρητικά. Δεν υπήρξε στατιστικά σημαντική διαφορά στη μεταβολή των επιπέδων TNF-α σε κάθε ομάδα. ΣΥΜΠΕΡΑΣΜΑΤΑ: Τα, μέχρι τώρα, θεωρητικά πλεονεκτήματα της επιπλεκτομής, όσον αφορά την απώλεια βάρους και το μεταβολικό σύνδρομο, δεν αντικατοπτρίζονται στην προοπτική αυτή μελέτη. Επιπλέον, δοθέντος του προστατευτικού ρόλου της ομεντίνης σε συνδυασμό με τη θετική συσχέτισηή της με τα επίπεδα αντιπονεκτίνης πλάσματος και HDL, ήδη γνωστών καρδιοπροστατευτικών πρωτεϊνών, ανακύπτουν ερωτήματα γύρω από την αρνητική επίδραση της επιπλεκτομής και καρδιαγγειακής φυσιολογίας, σε βάθος χρόνου.<br>Increased visceral adipose tissue is a risk factor for the metabolic complications associated with obesity and promotes a low-grade chronic inflammatory process. Resection of the great omentum in patients submitted to a bariatric procedure has been proposed for the amelioration of metabolic alterations and the maximization of weight loss. The aim of the present study was to investigate the impact of omentectomy performed in patients with morbid obesity undergoing sleeve gastrectomy (SG) on metabolic profile, adipokine secretion, inflammatory status and weight loss. Methods: Thirty-one obese patients were randomized into two groups, SG alone or with omentectomy. Adiponectin, omentin, interleukin-6 (IL-6), tumor necrosis factor α (TNF-α), high sensitivity C-reactive protein (hs-CRP), blood lipids, fasting glucose, insulin and insulin resistance were measured before surgery and at 7 days, and 1, 3 and 12 months after surgery. Results: During the one year follow up BMI decreased markedly and comparably in both groups (P<0.001). Insulin, IL-6 and hs-CRP levels decreased significantly compared to baseline (P<0.05) in both groups with no significant difference between groups. Adiponectin and high-density lipoprotein choresterol levels were significantly and similarly increased compared to baseline (P<0.001) in both groups. Omentin levels increased significantly (p<0.05) in the control group and decreased in -­‐ 108 -­‐ the omentectomy group one year postoperatively. There was no significant change in TNF-α levels in either group. Conclusions: The theoretical advantages of omentectomy in regard to weight loss and obesity related abnormalities are not confirmed in this prospective study. Furthermore, omentectomy does not induce important changes in the inflammatory status in patients undergoing SG.
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