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‣ Pediatric Antiphospholipid Syndrome: Clinical and Immunologic Features of 121 Patients in an International Registry

AVCIN, Tadej; CIMAZ, Rolando; SILVERMAN, Earl D.; CERVERA, Ricard; GATTORNO, Marco; GARAY, Stella; BERKUN, Yackov; SZTAJNBOK, Flavio R.; SILVA, Clovis A.; CAMPOS, Lucia M.; SAAD-MAGALHAES, Claudia; RIGANTE, Donato; RAVELLI, Angelo; MARTINI, Alberto; ROZMA
Fonte: AMER ACAD PEDIATRICS Publicador: AMER ACAD PEDIATRICS
Tipo: Artigo de Revista Científica
Português
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OBJECTIVES. The purpose of this study was to obtain data on the association of antiphospholipid antibodies with clinical manifestations in childhood and to enable future studies to determine the impact of treatment and long-term outcome of pediatric antiphospholipid syndrome. PATIENTS AND METHODS. A European registry extended internationally of pediatric patients with antiphospholipid syndrome was established as a collaborative project of the European Antiphospholipid Antibodies Forum and Lupus Working Group of the Pediatric Rheumatology European Society. To be eligible for enrollment the patient must meet the preliminary criteria for the classification of pediatric antiphospholipid syndrome and the onset of antiphospholipid syndrome must have occurred before the patient`s 18th birthday. RESULTS. As of December 1, 2007, there were 121 confirmed antiphospholipid syndrome cases registered from 14 countries. Fifty-six patients were male, and 65 were female, with a mean age at the onset of antiphospholipid syndrome of 10.7 years. Sixty (49.5%) patients had underlying autoimmune disease. Venous thrombosis occurred in 72 (60%), arterial thrombosis in 39 (32%), small-vessel thrombosis in 7 (6%), and mixed arterial and venous thrombosis in 3 (2%). Associated nonthrombotic clinical manifestations included hematologic manifestations (38%)...

‣ Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan ; The PTPN11 gene analysis in Noonan syndrome patients

Bertola, Débora Romeo
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 21/02/2006 Português
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INTRODUÇÃO: A síndrome de Noonan é uma doença autossômica dominante caracterizada por baixa estatura, dismorfismos faciais (hipertelorismo ocular, inclinação para baixo das fendas palpebrais, ptose palpebral, palato alto e má-oclusão dentária), pescoço curto e/ou alado, defeitos cardíacos, principalmente a estenose pulmonar valvar, deformidade esternal e criptorquia nos pacientes do sexo masculino. O gene PTPN11, localizado no braço longo do cromossomo 12 (12q24.1), é responsável por aproximadamente 50% dos casos de síndrome de Noonan. OBJETIVO: Detectar a freqüência de mutações no gene PTPN11 em uma amostra de pacientes os quais preenchiam os critérios clínicos para a síndrome de Noonan e síndromes Noonan-like e estabelecer uma correlação genótipo-fenótipo. MÉTODOS: Cinqüenta probandos com síndrome de Noonan, 3 com síndrome de LEOPARD, 3 com síndrome de Noonan-like/lesões múltiplas de células gigantes e 2 com neurofibromatose-Noonan foram incluídos nesse estudo. O estudo molecular foi realizado através da técnica da cromatografia líquida de alta precisão desnaturante e, naqueles com um perfil anormal, a técnica do seqüenciamento do éxon em questão foi concretizada. RESULTADOS: Mutações missense no gene PTPN11 foram identificadas em 21 probandos com síndrome de Noonan (42%)...

‣ Associação dos fatores demográficos, socioeconômicos e dietéticos com os componentes da síndrome metabólica em escolares com excesso de peso; Association between demographic, socioeconomic and dietary factors with the metabolic syndrome components in overweight schoolchildren

Rinaldi, Ana Elisa Madalena
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 03/08/2009 Português
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Introdução: O critério diagnóstico da síndrome metabólica na infância não está bem estabelecido, entretanto sua presença e dos seus componentes, já estão presentes, predominantemente, nas crianças com excesso de peso. Poucos estudos na população infantil mostram a influência do consumo alimentar na prevalência da síndrome metabólica. Objetivo: Verificar a relação dos fatores demográficos, socioeconômicos e dietéticos com os componentes da síndrome metabólica em escolares com excesso de peso provenientes de três escolas do ensino fundamental com ofertas alimentares distintas (Botucatu-SP). Metodologia: Foram incluídas 147 crianças com excesso de peso (51,7% meninas e 62,6% obesidade) na faixa etária de 6 a 10 anos de três escolas com administração e sistema alimentar distintos (privada, pública municipal e filantrópica). Foram coletados dados antropométricos, bioquímicos, demográficos, socioeconômico, da pressão arterial e do consumo alimentar. Este foi avaliado por três recordatórios de 24horas. Estes dados foram relacionados com os componentes da síndrome metabólica (circunferência abdominal, triacilglicerol, glicemia, HDL-C e pressão arterial). Análise de regressão linear múltipla foi usada para avaliar a relação entre os componentes da síndrome metabólica e dados demográficos...

‣ Prevalência de síndrome metabólica em pacientes com claudicação intermitente e sua correlação com o nível de obstrução arterial; Prevalence of metabolic syndrome in patients with intermittent claudication and its correlation with the segment of arterial obstruction

Zerati, Antonio Eduardo
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 02/02/2011 Português
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INTRODUÇÃO: O termo Síndrome Metabólica denomina um conjunto de fatores de risco cardiovascular associado à resistência à insulina e a um aumento da morbidade e da mortalidade. A síndrome metabólica está relacionada a diversas doenças, especialmente aquelas ligadas à aterosclerose, como a doença arterial periférica. A claudicação intermitente é sintoma característico de um estágio inicial da doença arterial periférica, no qual o conhecimento dos seus fatores predisponentes, entre os quais a síndrome metabólica, torna-se importante para a instituição do tratamento médico adequado, a fim de prevenir ou retardar a progressão da aterosclerose. OBJETIVO: O objetivo deste estudo transversal foi determinar a prevalência da síndrome metabólica em pacientes com claudicação intermitente e sua correlação com a idade, gênero, localização da obstrução arterial e associação com doença arterial coronária sintomática. MÉTODO: Foram estudados 170 pacientes com doença arterial obstrutiva dos membros inferiores de etiologia aterosclerótica cuja única manifestação clínica era dor tipo claudicação intermitente. A idade média foi de 65 anos (33-89 anos). Havia 117 homens (68.8%) com idade média de 65.6 anos (33-84 anos) e 53 mulheres (31.1%) com idade média de 63.7 anos (35-89 anos). RESULTADOS: A síndrome metabólica foi diagnosticada em 98 pacientes (57.6%)...

‣ Fenomenologia e história natural da síndrome de Tourette: breve resumo da pesquisa; Phenomenology and natural history of Tourette syndrome: brief summary or research

Leckman, James Frederick
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 09/04/2014 Português
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A fenomenologia da síndrome de Tourette (ST) é complexa. Apesar de tiques motores e vocais serem as características definidoras da síndrome, muitas pessoas relatam ter urgências premonitórias (fenômenos sensoriais) de difícil descrição. A história natural da ST também é variável, com alguns indivíduos que experimentam uma redução acentuada nos tiques até o final da segunda década de vida, enquanto outros permanecem com sintomas ao longo de toda a vida adulta. Os objetivos principais desta tese são três: (1) desenvolver um instrumento de avaliação clínica com boa validade e confiabilidade para ST; (2) investigar os fenômenos sensoriais (FS) associados a ST; e (3) documentar o curso da gravidade dos tiques durante as duas primeiras décadas de vida. Para atingir esses objetivos incluíram-se grupos de pacientes clinicamente bem caracterizados e de artigos científicos publicados em periódicos internacionais de alto impacto. A Escala de Gravidade Global de tiques de Yale (YGTSS) apresentou excelentes propriedades psicométricas, o que foi replicado em estudos independentes. Também emergiu como a escala de gravidade mais utilizada em ensaios clínicos randomizados para ST em todo o mundo. Os FS, particularmente urgências premonitórias...

‣ Sinking skin flap syndrome with delayed dysautonomic syndrome - An atypical presentation

Romero, Flávio Ramalho; Zanini, Marco Antônio; Ducati, Luis Gustavo; Gabarra, Roberto Colichio
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 1007-1009
Português
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INTRODUCTION Sinking skin flap syndrome or syndrome of the trephined is a rare complication after a large craniectomy, with a sunken skin above the bone defect with neurological symptoms such as severe headache, mental changes, focal deficits, or seizures. PRESENTATION OF CASE We report a case of 21 years old man with trefinated syndrome showing delayed dysautonomic changes. DISCUSSION Our patient had a large bone flap defect and a VP shunt that constitute risk factors to develop this syndrome. Also, there is reabsorption of bone tissue while it is placed in subcutaneous tissue. The principal symptoms of sinking skin flap syndrome are severe headache, mental changes, focal deficits, or seizures. Our patient presented with a delayed dysautonomic syndrome, with signs and symptoms very characteristics. Only few cases of this syndrome were related in literature and none were presented with dysautonomic syndrome. CONCLUSION We reported here a very uncommon case of sinking skill flap syndrome that causes a severe dysautonomic syndrome and worsening the patient condition. © 2013 The Authors.

‣ Treatment of postinfectious irritable bowel syndrome and noninfective irritable bowel syndrome with mesalazine

Bafutto,Mauro; Almeida,José Roberto de; Leite,Nayle Vilela; Oliveira,Enio Chaves; Gabriel-Neto,Salustiano; Rezende-Filho,Joffre
Fonte: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE ; Colégio Brasileiro de Cirurgia Digestiva - CBCD ; Sociedade Brasileira de Motilidade Digestiva - SBMD ; Federação Brasileira de Gastroenterologia - FBG; Sociedade Brasileira de Hepatologia - SBH; Sociedade Brasileira de Endoscopia Digestiva - SOBED Publicador: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE ; Colégio Brasileiro de Cirurgia Digestiva - CBCD ; Sociedade Brasileira de Motilidade Digestiva - SBMD ; Federação Brasileira de Gastroenterologia - FBG; Sociedade Brasileira de Hepatologia - SBH; Sociedade Brasileira de Endoscopia Digestiva - SOBED
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/03/2011 Português
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CONTEXT: Recent studies support the hypothesis that postinfectious irritable bowel syndrome and some irritable bowel syndrome patients display persistent signs of minor mucosal inflammation. Mesalazine has intestinal anti-inflammatory properties including cyclooxygenase and prostaglandin inhibition. The effects of mesalazine on postinfectious irritable bowel syndrome and noninfective irritable bowel syndrome patients are still unknown. OBJECTIVE: To observe the effects of mesalazine on postinfectious irritable bowel syndrome and noninfective irritable bowel syndrome with diarrhea patients. METHODS: Based on Rome III criteria, 61 irritable bowel syndrome with diarrhea patients (18 years old or more) were included in the evaluation. Patients were divided into two groups: postinfectious irritable bowel syndrome group, with 18 patients medicated with mesalazine 800 mg 3 times a day for 30 days; noninfective irritable bowel syndrome group, with 43 patients medicated with mesalazine 800 mg 3 times a day for 30 days. Symptom evaluations at baseline and after treatment were performed by means of a four-point Likert scale including stool frequency, stool form and consistency (Bristol Stool Scale), abdominal pain and distension (maximum score: 16; minimum score: 4). RESULTS: Postinfectious irritable bowel syndrome group presented a statistically significant reduction of the total symptom score (P<0.0001). The stool frequency was significantly reduced (P<0.0001)...

‣ PREVALENCE OF NON-ALCOHOLIC FATTY LIVER DISEASE IN WOMEN WITH POLYCYSTIC OVARY SYNDROME AND ITS CORRELATION WITH METABOLIC SYNDROME

ROMANOWSKI,Mariana Drechmer; PAROLIN,Monica Beatriz; FREITAS,Alexandre C T; PIAZZA,Mauri J; BASSO,Jorgete; URBANETZ,Almir A
Fonte: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE ; Colégio Brasileiro de Cirurgia Digestiva - CBCD ; Sociedade Brasileira de Motilidade Digestiva - SBMD ; Federação Brasileira de Gastroenterologia - FBG; Sociedade Brasileira de Hepatologia - SBH; Sociedade Brasileira de Endoscopia Digestiva - SOBED Publicador: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE ; Colégio Brasileiro de Cirurgia Digestiva - CBCD ; Sociedade Brasileira de Motilidade Digestiva - SBMD ; Federação Brasileira de Gastroenterologia - FBG; Sociedade Brasileira de Hepatologia - SBH; Sociedade Brasileira de Endoscopia Digestiva - SOBED
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2015 Português
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Background The polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women at childbearing age. Metabolic syndrome is present from 28% to 46% of patients with PCOS. Non-alcoholic fatty liver disease (NAFLD) is considered the hepatic expression of metabolic syndrome. There are few published studies that correlate PCOS and NAFLD. Objective To determine the prevalence of NAFLD and metabolic syndrome in patients with PCOS, and to verify if there is a correlation between NAFLD and metabolic syndrome in this population. Methods Study developed at Gynecology Department of Clinical Hospital of Federal University of Parana (UFPR). The sessions were conducted from April 2008 to January 2009. One hundred and thirty-one patients joined the analysis; 101 were diagnosed with PCOS and 30 formed the control group. We subdivided the PCOS patients into two subgroups: PCOS+NAFLD and PCOS. All the patients were submitted to hepatic sonography. For hepatoestheatosis screening, hepatic ecotexture was compared do spleen’s. For diagnosis of metabolic syndrome, we adopted the National Cholesterol Education Program/Adult Treatment Panel III (NCEP/ATP III) criteria, as well as the criteria proposed by International Diabetes Federation. Statistical analysis were performed with t of student and U of Mann-Whitney test for means and chi square for proportions. Results At PCOS group...

‣ Neuroleptic-induced acute respiratory distress syndrome

Soriano,Francisco Garcia; Vianna,Elcio dos Santos Oliveira; Velasco,Irineu Tadeu
Fonte: Associação Paulista de Medicina - APM Publicador: Associação Paulista de Medicina - APM
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2003 Português
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CONTEXT: A case of neuroleptic malignant syndrome and acute respiratory distress syndrome is presented and discussed with emphasis on the role of muscle relaxation, creatine kinase, and respiratory function tests. CASE REPORT: A 41-year-old man presented right otalgia and peripheral facial paralysis. A computed tomography scan of the skull showed a hyperdense area, 2 cm in diameter, in the pathway of the anterior intercommunicating cerebral artery. Preoperative examination revealed: pH 7.4, PaCO2 40 torr, PaO2 80 torr (room air), Hb 13.8 g/dl, blood urea nitrogen 3.2 mmol/l, and creatinine 90 mmol/l. The chest x-ray was normal. The patient had not eaten during the 12-hour period prior to anesthesia induction. Intravenous halothane, fentanyl 0.5 mg and droperidol 25 mg were used for anesthesia. After the first six hours, the PaO2 was 65 torr (normal PaCO2) with FiO2 50% (PaO2/FiO2 130), and remained at this level until the end of the operation 4 hours later, maintaining PaCO2 at 35 torr. A thrombosed aneurysm was detected and resected, and the ends of the artery were closed with clips. No vasospasm was present. This case illustrates that neuroleptic drugs can cause neuroleptic malignant syndrome associated with acute respiratory distress syndrome. Neuroleptic malignant syndrome is a disease that is difficult to diagnose. Acute respiratory distress syndrome is another manifestation of neuroleptic malignant syndrome that has not been recognized in previous reports: it may be produced by neuroleptic drugs independent of the manifestation of neuroleptic malignant syndrome. Some considerations regarding the cause and effect relationship between acute respiratory distress syndrome and neuroleptic drugs are discussed. Intensive care unit physicians should consider the possibility that patients receiving neuroleptic drugs could develop respiratory failure in the absence of other factors that might explain the syndrome.

‣ Role of psychiatric disorders and irritable bowel syndrome in asthma patients

Yilmaz,Ayse; Cumurcu,Birgul Elbozan; Tasliyurt,Turker; Sahan,Abdulkadir Geylani; Ustun,Yusuf; Etikan,Ilker
Fonte: Faculdade de Medicina / USP Publicador: Faculdade de Medicina / USP
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2011 Português
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OBJECTIVES: The goals of the study were the following: 1) to determine the frequency of psychiatric disorders and irritable bowel syndrome in patients with asthma and 2) to compare the frequency of these disorders in patients with asthma to their frequency in healthy controls. INTRODUCTION: Patients with asthma have a higher frequency of irritable bowel syndrome and psychiatric disorders. METHODS: We evaluated 101 patients with bronchial asthma and 67 healthy subjects. All subjects completed the brief version of the Bowel Symptoms Questionnaire and a structured clinical interview for DSM-IV axis disorders (SCID-I/CV). RESULTS: There were 37 cases of irritable bowel syndrome in the group of 101 stable asthma patients (36.6%) and 12 cases in the group of 67 healthy subjects (17.9%) (p = 0.009). Irritable bowel syndrome comorbidity was not related to the severity of asthma (p = 0.15). Regardless of the presence of irritable bowel syndrome, psychiatric disorders in asthma patients (52/97; 53.6%) were more common than in the control group (22/63, 34.9%) (p = 0.02). Although psychiatric disorders were more common in asthma patients with irritable bowel syndrome (21/35, 60%) than in those without irritable bowel syndrome (31/62, 50%), the difference was not significant (p = 0.34). In asthma patients with irritable bowel syndrome and psychiatric disorders...

‣ Coexistence of anaemia and the metabolic syndrome in adults in Jiangsu, China

Shi, Z.; Hu, X.; Yuan, B.; Hu, G.; Pan, X.; Holmboe-Ottesen, G.
Fonte: H E C Press Publicador: H E C Press
Tipo: Artigo de Revista Científica
Publicado em //2008 Português
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To determine the prevalence of anaemia and the metabolic syndrome with special interest in the coexistence of these two problems as well as the possible links. Research design and method: In a cross-sectional household survey, 1294 men and 1522 women aged 20 years and above were interviewed; anthropometric measurements and blood samples were taken. Metabolic syndrome was defined according to IDF 2005 standard. Anaemia was defined as haemoglobin level below 13 g/dL for men and 12 g/dL for women. Results: The age-adjusted prevalence of metabolic syndrome was 11.2% and of anaemia 24.4%. About 3 percent of the participants had both anaemia and metabolic syndrome. Women had a higher prevalence of both the metabolic syndrome and anaemia than men (14.0 vs 8.4%, 31.5% vs 16.1%). Anaemia coexisted significantly with all the individual components of the metabolic syndrome. Only 7.0% of the sample had anaemia without any individual component of metabolic syndrome. In women, the prevalence of combined anaemia and metabolic syndrome peaked in the age group 50-59 years (9.9%). Women in the highest quartile of serum ferritin had a higher risk of only the metabolic syndrome and coexistence of anaemia and metabolic syndrome. Conclusion: The high prevalence of the metabolic syndrome and anaemia in the area show the urgent need to develop comprehensive strategies aimed at prevention and treatment. In women this coexistence may be related to inflammation but further research is needed.; Zumin Shi...

‣ Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

Gennery, A.; Slatter, M.; Rice, J.; Hoefsloot, L.; Barge, D.; McLean-Tooke, A.; Montgomery, T.; Goodship, J.; Burt, A.; Flood, T.; Abinun, M.; Cant, A.; Johnson, D.
Fonte: Blackwell Publishing Ltd Publicador: Blackwell Publishing Ltd
Tipo: Artigo de Revista Científica
Publicado em //2008 Português
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More than 11 genetic causes of severe combined immunodeficiency (SCID) have been identified, affecting development and/or function of T lymphocytes, and sometimes B lymphocytes and natural killer (NK) cells. Deletion of 22q11.2 is associated with immunodeficiency, although less than 1% of cases are associated with T–B + NK + SCID phenotype. Severe immunodeficiency with CHARGE syndrome has been noted only rarely Omenn syndrome is a rare autosomal recessive form of SCID with erythroderma, hepatosplenomegaly, lymphadenopathy and alopecia. Hypomorphic recombination activating genes 1 and 2 mutations were first described in patients with Omenn syndrome. More recently, defects in Artemis, RMRP, IL7Rα and common gamma chain genes have been described. We describe four patients with mutations in CHD7, who had clinical features of CHARGE syndrome and who had T–B + NK + SCID (two patients) or clinical features consistent with Omenn syndrome (two patients). Immunodeficiency in patients with DiGeorge syndrome is well recognized − CHARGE syndrome should now be added to the causes of T–B + NK + SCID, and mutations in the CHD7 gene may be associated with Omenn-like syndrome.; A. R. Gennery, M. A. Slatter, J. Rice, L. H. Hoefsloot, D. Barge...

‣ Impaired endothelial function in pediatric patients with Turner Syndrome and healthy controls: a case-control study

O'Gorman, Clodagh S; Syme, Catriona; Bradley, Tim; Hamilton, Jill; Mahmud, Farid H
Fonte: BioMed Central Ltd Publicador: BioMed Central Ltd
Tipo: info:eu-repo/semantics/article; all_ul_research; ul_published_reviewed
Português
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peer-reviewed; Background: Turner Syndrome women are at high risk of vascular disease and the assessment of early risk factors in Turner Syndrome girls is an emerging focus of research. Our objective was to evaluate endothelial function (EF), a preclinical measure of atherosclerosis, in Turner Syndrome girls compared with controls. Methods: A cross-sectional case-control study of Turner Syndrome girls and healthy controls. Subjects underwent fasting insulin and glucose with calculation of HOMA-IR, fasting lipid profile, anthropometrics, and EF testing using peripheral arterial tonometry (PAT). Subjects, aged 10-18 years, had karyotype-confirmed Turner Syndrome; growth hormone (GH), thyroxine and estrogen use were not exclusion criteria. Controls were age- and BMI-matched healthy girls. Fifteen Turner Syndrome and 15 controls were recruited. Results: Turner Syndrome girls had lower height, higher HDL and higher waist:height ratio than controls. PAThyperemia ratio (RH-PAT) scores were lower in Turner Syndrome (1.64 ± 0.34 vs. 2.08 ± 0.32, p = 0.002) indicating impaired EF. Among Turner Syndrome, RH-PAT did not vary with estrogen therapy or with karyotype 45,XO compared with other karyotypes. However, endothelial function was better in GH-treated compared with GHuntreated Turner Syndrome (1.80 ± 0.36 vs. 1.4 + 0.22...

‣ Le rôle du stress oxydant dans les changements épigénétiques contribuant aux complications du syndrome métabolique.

Yara, Sabrina Oumou
Fonte: Université de Montréal Publicador: Université de Montréal
Tipo: Thèse ou Mémoire numérique / Electronic Thesis or Dissertation
Português
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La méthylation de l'ADN est l'une des modifications épigénétiques au niveau des îlots CpG. Cette modification épigénétique catalysée par les ADN méthyltransférases (DNMTs) consiste en la méthylation du carbone 5' d’une cytosine ce qui aboutit à la formation de 5-méthylcytosine. La méthylation de l'ADN est clairement impliquée dans l'inactivation des gènes et dans l'empreinte génétique. Elle est modulée par la nutrition, en particulier par les donneurs de méthyle et par une restriction protéique. Ces modifications épigénétiques persistent plus tard dans la vie et conduisent au développement de nombreuses pathologies telles que le syndrome métabolique et le diabète de type 2. En fait, de nombreux gènes clés subissent une modification de leur état de méthylation en présence des composants du syndrome métabolique. Cela montre que la méthylation de l'ADN est un processus important dans l'étiologie du syndrome métabolique. Le premier travail de ce doctorat a porté sur la rédaction d’un article de revue qui a examiné le cadre central du syndrome métabolique et analyser le rôle des modifications épigénétiques susceptibles d'influer sur l'apparition du stress oxydant et des complications cardiométaboliques. D’autre part...

‣ Syndrome of inappropriate antidiuretic hormone secretion related to Guillain-Barré syndrome after laparoscopic cholecystectomy

Çakirgöz,Mensure Yilmaz; Duran,Esra; Topuz,Cem; Kara,Deniz; Turgut,Namigar; Türkmen,Ülkü Aygen; Turanç,Bülent; Dolap,Mustafa Önder; Hanci,Volkan
Fonte: Sociedade Brasileira de Anestesiologia Publicador: Sociedade Brasileira de Anestesiologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2014 Português
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Background and objectives: Guillain-Barré Syndrome is one of the most common causes of acute polyneuropathy in adults. Recently, the occurrence of Guillain-Barré Syndrome after major and minor surgical operations has been increasingly debated. In Guillain-Barré syndrome, syndrome of inappropriate antidiuretic hormone secretion and dysautonomy are generally observed after maximal motor deficit. Case report: A 44-year-old male patient underwent a laparoscopic cholecystectomy for acute cholecystitis. After the development of a severe headache, nausea, diplopia, and attacks of hypertension in the early postoperative period, a computer tomography of the brain was normal. Laboratory tests revealed hyponatremia linked to syndrome of inappropriate antidiuretic hormone secretion, the patient's fluids were restricted, and furosemide and 3% NaCl treatment was initiated. On the second day postoperative, the patient developed numbness moving upward from the hands and feet, loss of strength, difficulty swallowing and respiratory distress. Guillain-Barré syndrome was suspected, and the patient was moved to intensive care. Cerebrospinal fluid examination showed 320 mg/dL protein, and acute motor-sensorial axonal neuropathy was identified by electromyelography. Guillain-Barré syndrome was diagnosed...

‣ Sneddon's syndrome: case report and review of its relationship with antiphospholipid syndrome

Dutra,Livia Almeida; Braga-Neto,Pedro; Pedroso,José Luiz; Barsottini,Orlando Graziani Povoas
Fonte: Instituto Israelita de Ensino e Pesquisa Albert Einstein Publicador: Instituto Israelita de Ensino e Pesquisa Albert Einstein
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2012 Português
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The Sneddon's syndrome is a rare disorder characterized by the occurrence of cerebrovascular disease associated with livedo reticularis. The antiphospholipid syndrome is the most frequent type of acquired thrombophilia, defined by the occurrence of thrombosis or pregnancy morbidity in the presence of persistently positive antiphospholipid antibodies. Approximately 80% of Sneddon's syndrome patients have an antiphospholipid antibody marker. These antibodies may play a pathogenetic role in some cases of Sneddon's syndrome, and many authors consider these two syndromes as the same entity. Although clinical features of antiphospholipid syndrome and Sneddon's syndrome may overlap, there is a distinction between clinical and laboratory evidence suggesting that these two entities are different diseases. A recent finding of coagulopathies, including elevated levels of coagulation factor VII, decreased levels of protein S, and activated protein C in Sneddon's syndrome patients suggested a possible biological link between the vasculopathy and a primary coagulopathy. Moreover, the clinical course seems to be progressive in Sneddon's syndrome patients and includes increase of disability and cognitive deterioration, more arterial involvement, and the antiphospholipid syndrome shows a more benign course. Both syndromes share clinical and laboratory features...

‣ Evaluation of common mental disorders in women with polycystic ovary syndrome and its relationship with body mass index

Rodrigues,Cristine Eliane Gomes; Ferreira,Luana de Lima; Jansen,Karen; Lopez,Mariane Ricardo Acosta; Drews Júnior,Cláudio Raul; Souza,Luciano Dias de Mattos
Fonte: Federação Brasileira das Sociedades de Ginecologia e Obstetrícia Publicador: Federação Brasileira das Sociedades de Ginecologia e Obstetrícia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/10/2012 Português
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36.29102%
PURPOSE: To evaluate the prevalence of common mental disorders in women diagnosed with polycystic ovary syndrome as compared with paired controls without this syndrome. METHODS: Cross-sectional study with a Control Group examining women between the ages of 18 and 30 who did not use antidepressants and who sought the Gynecology Service of the researched sites. For every woman diagnosed with the polycystic ovary syndrome, another with the same age, educational status and presence or absence of sexual partners was sought without this diagnosis. In total, 166 patients agreed to participate, consisting of 95 diagnosed with polycystic ovary syndrome and 71 in the Control Group. The diagnosis of polycystic ovary syndrome was made by the presence of two from three criteria: oligomenorrhea or amenorrhea, clinical or biochemical hyperandrogenism and polycystic ovaries on transvaginal ultrasound, following exclusion of patients with Cushing's syndrome, congenital adrenal hyperplasia, and androgen-secreting tumors. Weight and height were measured to calculate the body mass index. The Self-Reporting Questionnaire, which evaluated 20 items, was used as an indicator of common mental disorders. A χ² analysis stratified by the category of body mass index was used to compare the prevalence of common mental disorders...

‣ Caries in Portuguese children with Down syndrome

Areias,Cristina Maria; Sampaio-Maia,Benedita; Guimaraes,Hercilia; Melo,Paulo; Andrade,David
Fonte: Faculdade de Medicina / USP Publicador: Faculdade de Medicina / USP
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2011 Português
Relevância na Pesquisa
36.305732%
OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth) essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. CONCLUSIONS: Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children...

‣ Caries in Portuguese children with Down syndrome

Areias, Cristina Maria; Sampaio-Maia, Benedita; Guimaraes, Hercilia; Melo, Paulo; Andrade, David
Fonte: Universidade de São Paulo. Faculdade de Medicina Publicador: Universidade de São Paulo. Faculdade de Medicina
Tipo: info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion; ; ; ; ; ; Formato: application/pdf
Publicado em 01/01/2011 Português
Relevância na Pesquisa
36.305732%
OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth) essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. CONCLUSIONS: Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children...

‣ Role of psychiatric disorders and irritable bowel syndrome in asthma patients

Yilmaz, Ayse; Cumurcu, Birgul Elbozan; Tasliyurt, Turker; Sahan, Abdulkadir Geylani; Ustun, Yusuf; Etikan, Ilker
Fonte: Universidade de São Paulo. Faculdade de Medicina Publicador: Universidade de São Paulo. Faculdade de Medicina
Tipo: info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion; ; ; ; ; ; Formato: application/pdf
Publicado em 01/01/2011 Português
Relevância na Pesquisa
36.29102%
OBJECTIVES: The goals of the study were the following: 1) to determine the frequency of psychiatric disorders and irritable bowel syndrome in patients with asthma and 2) to compare the frequency of these disorders in patients with asthma to their frequency in healthy controls. INTRODUCTION: Patients with asthma have a higher frequency of irritable bowel syndrome and psychiatric disorders. METHODS: We evaluated 101 patients with bronchial asthma and 67 healthy subjects. All subjects completed the brief version of the Bowel Symptoms Questionnaire and a structured clinical interview for DSM-IV axis disorders (SCID-I/CV). RESULTS: There were 37 cases of irritable bowel syndrome in the group of 101 stable asthma patients (36.6%) and 12 cases in the group of 67 healthy subjects (17.9%) (p = 0.009). Irritable bowel syndrome comorbidity was not related to the severity of asthma (p = 0.15). Regardless of the presence of irritable bowel syndrome, psychiatric disorders in asthma patients (52/97; 53.6%) were more common than in the control group (22/63, 34.9%) (p = 0.02). Although psychiatric disorders were more common in asthma patients with irritable bowel syndrome (21/35, 60%) than in those without irritable bowel syndrome (31/62, 50%), the difference was not significant (p = 0.34). In asthma patients with irritable bowel syndrome and psychiatric disorders...