Results 211 to 220 of about 24,757,633 (403)

Mutations in an Innate Immunity Pathway Are Associated with Poor Overall Survival Outcomes and Hypoxic Signaling in Cancer

open access: yesCell Reports, 2018
Summary: Complement-mediated cytotoxicity may act as a selective pressure for tumor overexpression of complement regulators. We hypothesize that the same selective pressure could lead to complement alterations at the genetic level.
Monica M. Olcina   +8 more
doaj  

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte   +13 more
wiley   +1 more source

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan   +8 more
wiley   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

Effects of Pharmacologic and Nonpharmacologic Interventions for the Management of Sleep Problems in People With Fibromyalgia: Systematic Review and Network Meta‐Analysis of Randomized Controlled Trials

open access: yesArthritis Care &Research, EarlyView.
Objective Fibromyalgia is a chronic condition characterized by widespread musculoskeletal pain and fatigue. Almost everyone with fibromyalgia has sleep problems. We aimed to evaluate the effectiveness and safety of current interventions for the management of fibromyalgia‐related sleep problems.
Jemma Hudson   +11 more
wiley   +1 more source

Barriers and Facilitators for Implementing Resilience Coaching for Youth With Chronic Musculoskeletal Pain: Pediatric Rheumatologists’ Perspectives

open access: yesArthritis Care &Research, EarlyView.
Objective Promoting Resilience in Stress Management (PRISM) is a resilience coaching program designed for adolescents with chronic illness. We aimed to examine the perceived feasibility, acceptability, and appropriateness of PRISM among pediatric rheumatologists treating adolescents with chronic musculoskeletal pain and obtain recommendations for ...
Sabrina Gmuca   +9 more
wiley   +1 more source

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