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
Open-Source Large Language Models and AI Health Equity: A Health Service Triangle Model Perspective. [PDF]
Wu S +8 more
europepmc +1 more source
Adolescents, health services, and access to care
openaire +2 more sources
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
Geographical accessibility of cancer hospital using geospatial technology in Bagmati province, Nepal. [PDF]
Neupane BK +5 more
europepmc +1 more source
ABSTRACT Just recently, successful chimeric antigen receptor (CAR) T cell therapy was reported in the first patient with refractory, anti‐diacylglycerol lipase alpha (DAGLA) antibody‐mediated autoimmune encephalitis, achieving partial clinical remission.
Dimitrios Mougiakakos +9 more
wiley +1 more source
Understanding Opportunity Costs of Women Participating in Maternal and Child Nutrition Interventions in Southern Angola: Evidence From the MuCCUA Trial. [PDF]
Martin-Cañavate R +8 more
europepmc +1 more source
Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran +13 more
wiley +1 more source
Beyond the clinic: sensory-adapted food services to support nutrition in autism spectrum disorder. [PDF]
Conti MV, Fiechtner L, Cena H.
europepmc +1 more source
Compelling evidence exists that differences in health status, access to care, and the provision of physical and mental health services are significantly related to race, ethnicity, primary language, geography, and various measures of socioeconomic ...
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