Results 181 to 190 of about 1,214,653 (312)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Ethical analysis of the European normative framework on fertility preservation. [PDF]

BMC Med Ethics
Aleksandrova-Yankulovska S, Orzechowski M, Hancke K, Bundschu K, Steger F.   +4 more
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Editorial: Expanding the reach of evidence-based psychological interventions for mental health: innovation, access, and equity. [PDF]

Front Psychiatry
Melnik T, Sinval J, Lopes FM.
europepmc   +1 more source

Executive Summary: Management of Adults With Hospital-acquired and Ventilator-associated Pneumonia: 2016 Clinical Practice Guidelines by the Infectious Diseases Society of America and the American Thoracic Society.

Clinical Infectious Diseases, 2016
A. Kalil, M. Metersky, M. Klompas, J. Muscedere, D. Sweeney, L. Palmer, L. Napolitano, N. O’grady, J. Bartlett, J. Carratalá, A. E. El Solh, S. Ewig, P. Fey, T. File, M. Restrepo, J. Roberts, G. Waterer, P. Cruse, Shandra L. Knight, J. Brożek   +19 more
semanticscholar   +1 more source

Physician Referral Patterns to Physical Therapists for Managing Knee Osteoarthritis: A Retrospective Analysis of Electronic Health Records From an Integrated Health System

Arthritis Care &Research, EarlyView.
Objective This study aims to describe the frequency and timing of physician referrals to physical therapists (PTs) and other treatments prescribed over 12 months in patients with recent onset of knee osteoarthritis (KOA). The study also aims to identify determinants of early PT referrals.
Samannaaz S. Khoja, Joel M. Stevans, Gustavo J. Almeida, Clair Smith, Janet K. Freburger   +4 more
wiley   +1 more source

Effectiveness and Safety of Baricitinib for Juvenile Idiopathic Arthritis–Associated Uveitis or Chronic Anterior Antinuclear Antibody–Positive Uveitis

Arthritis Care &Research, EarlyView.
Objective To evaluate the efficacy and safety of baricitinib in pediatric patients with active juvenile idiopathic arthritis–associated uveitis (JIA‐U) or chronic anterior antinuclear antibody–positive uveitis, who had an inadequate response to methotrexate (MTX) or biologic disease‐modifying antirheumatic drugs (bDMARDs).
Athimalaipet V. Ramanan, Catherine M. Guly, Gabriele Simonini, Stuart Y. Keller, Priyanka Sen, Thorsten Holzkaemper, Joana Araújo, Pierre Quartier   +7 more
wiley   +1 more source

Trends in the Japanese National Medical Licensing Examination: Cross-Sectional Study. [PDF]

JMIR Med Educ
Morimoto Y, Shikino K, Nomura Y, Ito S.
europepmc   +1 more source

Temporal Trends in and Associations With Nonsteroidal Anti‐inflammatory Drug Prescription in Adult and Pediatric Patients With Inflammatory Bowel Disease

Arthritis Care &Research, EarlyView.
Objective Recent inflammatory bowel disease (IBD) treatment guidelines have recommended against nonsteroidal anti‐inflammatory drug (NSAID) use despite prevalent musculoskeletal symptoms and opioid overuse in this population. Given the discordance between changing national guidelines and potential clinical utility, we sought to assess national temporal
Adam S. Mayer, Rui Xiao, Andrew Grossman, Meenakshi Bewtra, Michael D. George, Pamela F. Weiss   +5 more
wiley   +1 more source