MonitOring the health trajectory of patients with kNee osteoarthritis referred for orthopaedic opinion: Protocol for the MOTION parallel cohort-implementation study. [PDF]
Barton CJ+25 more
europepmc +1 more source
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
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
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah+4 more
wiley +1 more source
Development of Priority Outcome Domains for Community Mental Health Research via Consensus Among Multiple Stakeholders: Online Delphi Study in Japan. [PDF]
Shiozawa T+7 more
europepmc +1 more source
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang+11 more
wiley +1 more source
Identification of core outcomes for quality in routine care provided to people living with dementia in Australia: a multilevel modified Delphi consensus study. [PDF]
Kenny D+12 more
europepmc +1 more source
Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia
ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro+12 more
wiley +1 more source
Implementation of the Cognitive Daisy (COG-D) for improving care planning and delivery for residents with dementia in care homes: results of a feasibility randomised controlled trial. [PDF]
Pollux PMJ+9 more
europepmc +1 more source
Timing and Predictive Value of Clinical Conditions Preceding Multiple Sclerosis in the UK Biobank
ABSTRACT Objectives Multiple sclerosis (MS) patients often experience a higher incidence of clinical conditions before diagnosis, suggesting a prodromal phase. However, their predictive value and temporal trajectories remain underexplored. We investigated these aspects using the large UK Biobank's population‐based cohort, which provided clinical ...
Andrea Nova+5 more
wiley +1 more source