Results 221 to 230 of about 2,388,925 (316)

Adopting a user-centred design approach for the development of on-device technology to prevent the viewing of child sexual abuse material: app design insights and principles from the development of 'Salus'. [PDF]

open access: yesFront Psychiatry
Davy D   +13 more
europepmc   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß   +22 more
wiley   +1 more source

Single-cell landscape of human liver sinusoidal γδ T cells in the context of latent human cytomegalovirus infection. [PDF]

open access: yesNat Commun
Kim DU   +12 more
europepmc   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo   +11 more
wiley   +1 more source

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang   +22 more
wiley   +1 more source

Rheumatoid Arthritis and Coronary Artery Calcium Progression: A Case Cohort Analysis From ELSA‐Brasil

open access: yesArthritis Care &Research, EarlyView.
Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada   +7 more
wiley   +1 more source

Real‐World Safety and Effectiveness of JAK Inhibitors in Systemic Sclerosis: A Propensity‐Matched Study From the EUSTAR Cohort

open access: yesArthritis Care &Research, EarlyView.
Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato   +27 more
wiley   +1 more source

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