Results 81 to 90 of about 229,876 (300)
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
This paper primarily represents the views of young people with eating disorders who would like family, friends and professionals to understand what they find helpful and unhelpful but also presents alternative perspectives. A framework is proposed to aid
Davies, Sarah
core +1 more source
Canadian practice guidelines for the treatment of children and adolescents with eating disorders
Eating disorders are common and serious conditions affecting up to 4% of the population. The mortality rate is high. Despite the seriousness and prevalence of eating disorders in children and adolescents, no Canadian practice guidelines exist to ...
LeClerc, Anick +31 more
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Exploring positive and negative aspects of eating disorders [PDF]
Eating disorders are notoriously difficult to treat, and anorexia nervosa has the highest mortality rate of all the psychiatric illness (Gremillion, 2003). Therefore this client group can present challenges to clinicians working with them.
Elsworthy, Melanie Jane
core
Eating pathology in relationship to hopelessness [PDF]
Plan BPast research evaluating the continuity and discontinuity hypotheses has produced inconclusive results. The continuity hypothesis states that dieting plays a role in the development of bulimia and disordered eating falls on a continuum.
Laffe, Stacia A.
core
Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin +11 more
wiley +1 more source
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source

