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Willians syndrome

Erik D Christensen, Justin Berger, Mouied M Alashari, Hilary Coon, Cynthia Robison, Hsu-Tso Ho, David R Adams, Willian A Gahl, Ken R Smith, John M Opitz, Dennis R Johnson
"Sudden Infant Death syndrome" (SIDS) represents the commonest category of infant death after the first month of life. As genome scale sequencing greatly facilitates the identification of new candidate disease variants, the challenges of ascribing causation to these variants persists. In order to determine the extent to which SIDS occurs in related individuals and their pedigree structure we undertook an analysis of SIDS using the Utah Population Database, recording, for example, evidence of enrichment for genetic causation following the back-to-sleep recommendations of 1992 and 1994...
January 2017: American Journal of Medical Genetics. Part A
Wagner Silva Dantas, José Antonio Miguel Marcondes, Samuel Katsuyuki Shinjo, Luiz Augusto Perandini, Vanessa Olzon Zambelli, Willian Das Neves, Cristiano Roberto Grimaldi Barcellos, Michele Patrocínio Rocha, Viviane Dos Reis Vieira Yance, Renato Tavares Dos Santos Pereira, Igor Hisashi Murai, Ana Lucia De Sá Pinto, Hamilton Roschel, Bruno Gualano
No abstract text is available yet for this article.
September 2016: Obesity
Marina Reis Oliveira, Willian Caetano Rodrigues, Mario Francisco Real Gabrielli, Marisa Aparecida Cabrini Gabrielli, Mirian Aparecida Onofre, Valfrido Antonio Pereira Filho
Gardner syndrome is a rare autosomal-dominant condition characterized by the presence of intestinal polyposis, multiple osteomas, and tumors of the hard and soft tissues. This paper describes a patient of Gardner syndrome with unusual maxillofacial manifestation with presence of fibromyxomatous injury in jaw, coronoid hyperplasia, and multiple osteomas diffusely distributed in the craniomaxillofacial skeleton. Imaging examinations have identified craniofacial manifestations and the patient was referred to the gastroenterologist who confirmed the diagnosis of Gardner syndrome...
July 2016: Journal of Craniofacial Surgery
Wagner Silva Dantas, José Antonio Miguel Marcondes, Samuel Katsuyuki Shinjo, Luiz Augusto Perandini, Vanessa Olzon Zambelli, Willian Das Neves, Cristiano Roberto Grimaldi Barcellos, Michele Patrocínio Rocha, Viviane Dos Reis Vieira Yance, Renato Tavares Dos Santos Pereira, Igor Hisashi Murai, Ana Lucia De Sá Pinto, Hamilton Roschel, Bruno Gualano
OBJECTIVE: The aim of this study was to examine the effects of acute exercise on insulin signaling in skeletal muscle of women with polycystic ovary syndrome (PCOS) and controls (CTRL). METHODS: Fifteen women with obesity and PCOS and 12 body mass index-matched CTRL participated in this study. Subjects performed a 40-min single bout of exercise. Muscle biopsies were performed before and 60 min after exercise. Selected proteins were assessed by Western blotting. RESULTS: CTRL, but not PCOS, showed a significant increase in PI3-k p85 and AS160 Thr 642 after a single bout of exercise (P = 0...
November 2015: Obesity
Wagner de Fátima Pereira, Gustavo Eustáquio A Brito-Melo, Cayo Antônio Soares de Almeida, Lázaro Lopes Moreira, Cleiton Willian Cordeiro, Thiago Guimarães Rosa Carvalho, Elvis Cueva Mateo, Ana Cristina Simões E Silva
Nephrotic syndrome (NS) is characterized by proteinuria, hypoalbuminemia, generalized edema, and hyperlipidemia. It begins by changes in the glomerular filtration barrier, with increased permeability to plasma proteins. It affects all age groups and can progress to end-stage renal disease. NS pathophysiology is still unknown. However, the critical role of the immune system is well recognized. Animal models are useful tools for the investigation of NS. Among different experimental models proposed in the literature, disease induced by Doxorubicin has been considered helpful to the purpose of many studies...
May 2015: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
Sharon J Sha, Pia M Ghosh, Suzee E Lee, Chiara Corbetta-Rastelli, Willian J Jagust, John Kornak, Katherine P Rankin, Lea T Grinberg, Harry V Vinters, Mario F Mendez, Dennis W Dickson, William W Seeley, Marilu Gorno-Tempini, Joel Kramer, Bruce L Miller, Adam L Boxer, Gil D Rabinovici
INTRODUCTION: Group comparisons demonstrate greater visuospatial and memory deficits and temporoparietal-predominant degeneration on neuroimaging in patients with corticobasal syndrome (CBS) found to have Alzheimer's disease (AD) pathology versus those with underlying frontotemporal lobar degeneration (FTLD). The value of these features in predicting underlying AD pathology in individual patients is unknown. The goal of this study is to evaluate the utility of modified clinical criteria and visual interpretations of magnetic resonance imaging (MRI) and fluorodeoxyglucose positron emission tomography (FDG-PET) for predicting amyloid deposition (as a surrogate of Alzheimer's disease neuropathology) in patients presenting with CBS...
2015: Alzheimer's Research & Therapy
Oséias Vargas Barbosa, André Borba Reiriz, Ricardo Antônio Boff, Willian Passos Oliveira, Luiza Rossi
CONTEXT: Li-Fraumeni syndrome is a rare disease with an autosomal dominant inheritance pattern and high penetrance that defines a 50% chance of developing cancer before the age of 30 years, including cases of breast sarcoma. Patients with this syndrome who require radiotherapy have an increased risk of developing secondary malignancies including angiosarcomas. CASE REPORT: This was a case report on a female patient with Li-Fraumeni syndrome. In October 2005, she was diagnosed with invasive ductal carcinoma of the right breast and underwent sectorectomy...
March 2015: São Paulo Medical Journal, Revista Paulista de Medicina
Patrícia Lopes de Campos-Ferraz, Isabel Andrade, Willian das Neves, Isabela Hangai, Christiano Robles Rodrigues Alves, Antonio Herbert Lancha
Cancer cachexia is a complex multifactorial syndrome characterized by loss of skeletal muscle mass (with or without loss of fat mass) that cannot be fully reversed by conventional nutritional support and leads to progressive functional impairment. Recently, some amino acids and other amine dietary supplements have been highlighted in medical field due to positive effects upon diseases evolving skeletal muscle atrophy. Therefore, the aim of this brief review is to discuss the putative application of amines as dietary supplements to counteract skeletal muscle wasting on cancer cachexia...
June 2014: Journal of Cachexia, Sarcopenia and Muscle
Andre Mauricio Fernandes, Vikas Rathi, June Yamrozik, Ronald Willians, Robert W Biederman
Interrupted inferior vena cava (IVC) is a rare anomaly. Anomalies of IVC are clinically important for cardiologists and radiologists who plan to intervene in the right heart. We describe three cases of IVC interruption diagnosed by cardiac magnetic resonance imaging study.
February 2012: Arquivos Brasileiros de Cardiologia
Sergio Monteiro Lima, Luciana Asprino, Roger Willian Fernandes Moreira, Márcio de Moraes
The purpose of this study was to retrospectively evaluate the complications of 58 patients who underwent surgery for mandibular condylar process fractures. Data were collected from patients during a 10-year period (1999-2009). The data recorded included demographic data, etiology, diagnosis, type of condylar fracture, surgical approaches, and postoperative complications. A total of 58 underwent surgery for reduction of the condylar fractures. There were 22 patients with bilateral condyle fractures and 36 patients with unilateral condyle fractures, accounting for 65 surgeries...
July 2011: Journal of Craniofacial Surgery
Willian Cruz, Sonia Fialho, Edelton Morato, Gláucio Castro, Adriana Zimmermann, Giovana Ribeiro, Fabrício Neves, Ivânio Pereira
OBJECTIVES: To investigate the lipoprotein profile of patients with primary Sjögren's syndrome (pSS) and its association with laboratory tests, including markers of inflammation. METHODS: This is a cross-sectional study among patients with pSS and healthy controls. We analyzed the lipoprotein profile of 73 pSS patients compared to 65 healthy individuals in the control group. We further evaluated possible associations between dyslipidemia in pSS patients and laboratory parameters including: hypergammaglobulinemia, autoantibodies [antinuclear antibodies (ANA), rheumatoid factor (RF), anti-Ro, anti-La], and acute-phase reactants [C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR)]...
May 2010: Joint, Bone, Spine: Revue du Rhumatisme
Fábio Augusto Freiria Barbosa, Roger Willian de Labio, Valdeci de Oliveira S Rigolin, Thais Minett, Paulo Henrique Ferreira Bertolucci, Marília de Arruda Cardoso Smith, Spencer Luiz Marques Payão
Alzheimer's disease (AD) is the most common neurodegenerative disorder in the elderly and is also considered a progeroid genetic syndrome. The etiology of AD is complex and the mechanisms underlying its pathophysiology remain to be clarified. It has been suggested that a high serum cholesterol level is a risk factor for (AD), and that some polymorphisms of genes encoding proteins regulating cholesterol metabolism are associated with AD development. APOA5 is a recently discovered apolipoprotein involved primarily with triglyceride (TG) metabolism disorder...
December 2006: Journal of Alzheimer's Disease: JAD
Spencer Luiz Marques Payão, Roger Willian de Labio, Luciano Lobo Gatti, Valdeci O S Rigolin, Paulo H F Bertolucci, Marília de A C Smith
Alzheimer disease (AD) is the most common neurodegenerative disorder in the elderly and is also considered a progeroid genetic syndrome. The etiology of AD is complex and the mechanisms underlying its pathophysiology remains to be clarified. Werner syndrome (WS) is a rare autosomal recessive disorder characterized as a segmental progeroid syndrome. The gene (WRN) was recently identified. Its product acts as a DNA helicase and exonuclease. This study investigates the association of AD with the WRN 1367 polymorphisms in samples of 67 DA patients, 56 elderly healthy and 66 young healthy controls...
December 2004: Journal of Alzheimer's Disease: JAD
Wener Cella, Andreia Peltier Urbano, Willian Santos Vinhadelli, Mauricio Donatti, Eduardo Melani Rocha
No abstract text is available yet for this article.
March 2002: Journal of Pediatric Ophthalmology and Strabismus
M Sugita, M Willians, J T Dulaney, H W Moser
It has been shown that tissues of patients with Farber's disease characteristically lack acid (pH 4.0) ceramidase. In normal cerebellum, however, ceramide cleavage and the reverse reaction, free fatty acid-dependent ceramide synthesis, both occur not only at pH 4.0 but also at pH 9.0, although normal kidney exhibits these activities only at pH 4.0. Both tissues are capable of snythesizing ceramide via an acyl-COA-dependent pathway at neutral pH. The synthetic analog of ceramide, N-oleoyl-ethanolamine, is a potent inhibitor of ceramidase...
July 22, 1975: Biochimica et Biophysica Acta
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