Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini +9 more
wiley +1 more source
"Reconciling"- conceptualising the grieving process of family members involved in assisted dying: a grounded formal theory. [PDF]
Bayuo J +3 more
europepmc +1 more source
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai +13 more
wiley +1 more source
Influence of multidimensional determinants on physical activity behavior: a perspective from health promotion and behavior change theories. [PDF]
Zhang G, Chen K, Ding G.
europepmc +1 more source
Implementing school-based nutrition interventions in low- and middle-income countries: a scoping review of implementation strategies, frameworks, and outcomes. [PDF]
Kamyshnyi O +4 more
europepmc +1 more source
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar +7 more
wiley +1 more source
Contexts and Mechanisms Related to the Efficacy of Digital Medication Adherence Interventions to Support Medication Adherence Among Adults With Chronic Diseases: Realist Review. [PDF]
Saha S, Latham Y, Holland C.
europepmc +1 more source
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley +1 more source
The power of the group - Group-based parenting programmes for disadvantaged parents and their infants: a realist review. [PDF]
Verweij R +3 more
europepmc +1 more source
Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule +4 more
wiley +1 more source

