Results 61 to 70 of about 473,515 (298)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Violência e a saúde [PDF]

, 2012
Você terá acesso nesse módulo a conteúdos sobre violência relacionada à criança, mulher e idosos. O texto aborda assuntos referentes aos diferentes tipos de violência, às lesões que indicam sinais de abuso, além de discutir as redes de apoio às vítimas ...
Cardoso, Monich Melo, Coelho, Elza Berger Salema, Lindner, Sheila Rubia, Rebello, Kátia de Macedo   +3 more
core  

Computer-aided system for diagnosis of Chagas’ disease based on scalograms and self-organizing neural networks [PDF]

, 2013
Introdução: A Doença de Chagas é uma endemia rural, prevalente em grande parte da América Central e América do Sul e, aproximadamente, metade dos pacientes contaminados com o parasita Trypanosoma cruzi não apresentam sinais clínicos, eletrocardiográficos
Carvalho, João Luiz Azevedo de, Junqueira Junior, Luiz Fernando, Nascimento, Francisco Assis de Oliveira, Rocha, Adson Ferreira da, Souza Neto, João   +4 more
core   +3 more sources

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Method and System for Heart Rate Estimation Using Linear Prediction Filtering

Signals
Cardiovascular diseases represent one of the major problems faced by modern society. In addition to reducing people’s quality of life, bringing high costs to the health system, and causing losses in economic productivity, they are the leading cause of ...
Vitor O. T. Souza, Fabrício G. S. Silva, José M. Araújo, Jaimilton S. Lima   +3 more
doaj   +1 more source

Sinais Internacionais e a formação para intérpretes de Sinais Internacionais

Belas Infiéis, 2019
Sinais Internacionais (SI) não é considerada como uma língua oficialmente, pois ela não tem uma comunidade de origem definida. Entretanto, é muito bem aproveitada como uma espécie de língua franca equidistante das diversas línguas de sinais de cada país,
Letícia Fernandes Garcia Wagatsuma Granado
doaj   +1 more source

Formação em Língua Brasileira de Sinais - nível master [PDF]

, 2019
VII Seminário de Extensão Universitária da UNILA (SEUNI); VIII Encontro de Iniciação Científica e IV Encontro de Iniciação em Desenvolvimento Tecnológico e Inovação (EICTI 2019) e Seminário de Atividades Formativas da UNILA (SAFOR)Diante de documentos ...
Fellini, Dinéia Ghizzo Neto, Hericks, Ane Elise   +1 more
core  

Quadriceps Injuries in Major League Soccer: A 10‐Year Analysis of Injury Rate, Return‐to‐Play, and Performance Metrics

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To evaluate quadriceps injury rates, return‐to‐play (RTP) durations, and postinjury performance in Major League Soccer (MLS) athletes with quadriceps injuries. Methods Data from MLS players with quadriceps injuries (2010‐2021) were analyzed using the MLS Injury Surveillance database.
Brian Forsythe, Catherine Hand, Camden Bohn, Daanish Khazi‐Syed, Joshua Chang, Francis Hand, Harmanjeet Singh, Andrew Savoia, Jonathan Spaan, Eric Giza, Margot Putukian, Bert R. Mandelbaum   +11 more
wiley   +1 more source

Interleukin‐5, Eosinophils, and Interleukin‐5 Pathway Inhibitors in Eosinophilic Granulomatosis With Polyangiitis

Arthritis &Rheumatology, EarlyView.
Interlukin‐5 (IL‐5) plays a crucial role in the pathogenesis of eosinophilic granulomatosis with polyangiitis (EGPA) by promoting eosinophil differentiation, activation, and survival. We present here a typical case of EGPA in which treatment with IL‐5 pathway inhibitors is prescribed, showing to be beneficial for the patient.
Alvise Berti, Christian Pagnoux
wiley   +1 more source

Spondyloarthritis Preceding and Following Inflammatory Bowel Disease Diagnosis and Risk Factors: A Temporal Trends Analysis in a Population‐Based Cohort

Arthritis &Rheumatology, EarlyView.
Objective Spondyloarthritides (SpA) and inflammatory bowel disease (IBD) are immune‐mediated diseases with overlap in clinical and immunologic features. However, temporal correlation of SpA and IBD in individual patients and risk factors are not well characterized.
Manasi Agrawal, Christian N. Sørensen, Gry J. Poulsen, Bahar Moghaddam, Percio S. Gulko, Jean‐Frederic Colombel, Tine Jess   +6 more
wiley   +1 more source