Results 141 to 150 of about 73,048 (297)
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Sex Differences in Medication Discontinuation in Axial Spondyloarthritis
Objective We examined sex differences in medication discontinuation among patients with axial spondyloarthritis (axSpA) initiating tumor necrosis factor inhibitors (TNFi), interleukin‐17 inhibitors (IL‐17i), or JAK inhibitors (JAKi). Methods Using data from the Rheumatology Informatics System for Effectiveness (RISE) Registry (2003–2025), we assessed ...
Rachael Stovall +9 more
wiley +1 more source
Research on Somatization and Somatic Symptom Disorders [PDF]
The new Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition defines somatic symptom and related disorders as long-standing somatic symptoms that are associated with disproportionate thoughts, feelings, and behaviors, irrespective of whether or not a medical cause for these symptoms can be determined.
openaire +1 more source
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Psychometric evaluation and community norms of the Somatic Symptom Scale-8 based on a representative German sample. [PDF]
Kliem S +7 more
europepmc +1 more source
Objective The purpose was to evaluate a biomarker score consisting of MUC5B rs35705950 promoter variant, plasma matrix metalloproteinase‐7 (MMP‐7), and serum anti–malondialdehyde‐acetaldehyde (anti‐MAA) antibody for rheumatoid arthritis (RA)–associated interstitial lung disease (ILD) risk stratification.
Kelsey Coziahr +16 more
wiley +1 more source
Somatic Symptom Disorder Imitating Vascular Injury
Muhammet Mesut Nezir Engin +2 more
doaj +1 more source
Cognitive Behavioral Therapy for Youth With Childhood‐Onset Lupus: A Randomized Clinical Trial
Objective Our objective was to determine the feasibility and acceptability of the Treatment and Education Approach for Childhood‐Onset Lupus (TEACH), a six‐session cognitive behavioral intervention addressing depressive, fatigue, and pain symptoms, delivered remotely to individual youth with lupus by a trained interventionist.
Natoshia R. Cunningham +29 more
wiley +1 more source

