Results 261 to 270 of about 109,775 (346)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

Heterochronic parabiosis uncovers AdipoR1 as a critical player in retinal rejuvenation. [PDF]

open access: yesSci Adv
Liu Y   +9 more
europepmc   +1 more source

Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck   +15 more
wiley   +1 more source

Metabolic Consequences of Rheumatoid Arthritis

open access: yesArthritis Care &Research, EarlyView.
Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry   +2 more
wiley   +1 more source

Life-long microbiome rejuvenation improves intestinal barrier function and inflammaging in mice. [PDF]

open access: yesMicrobiome
Sommer F   +13 more
europepmc   +1 more source

Understanding Contributors of Resilience in Youth With Childhood‐Onset Systemic Lupus Erythematosus Through a Socioecological Lens: A Mixed‐Methods Study

open access: yesArthritis Care &Research, EarlyView.
Objective This study aimed to identify themes contributing to resilience in childhood‐onset systemic lupus erythematosus (cSLE), distinguish between profiles of resilience, and examine how they relate to underlying themes and patient characteristics. Methods We conducted a mixed‐methods study of 21 patients with cSLE aged 11 to 19 years at a Canadian ...
Isabella Zaffino   +12 more
wiley   +1 more source

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