Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
Short-Term Repeat Healthcare Visits and Area-Level Inequalities in a Primary Care-Centered Health System. [PDF]
Arpaci Saylar B +2 more
europepmc +1 more source
Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay +15 more
wiley +1 more source
Patient Factors Associated With Surgical Outpatient Non-attendance in a Remote Australian Context. [PDF]
Woodward ZK +6 more
europepmc +1 more source
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato +7 more
wiley +1 more source
The Design and Evaluation of an Online Continuing Medical Education App for Medical Professionals in China: Quantitative Study. [PDF]
Zhang X +9 more
europepmc +1 more source
Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl +6 more
wiley +1 more source
Access to and engagement with healthcare services among women with Children's Social Care involvement during the perinatal period who subsequently died: a confidential enquiry. [PDF]
De Backer K +11 more
europepmc +1 more source
Objective We examined whether 18 months of strength training in individuals with knee varus alignment and medial tibiofemoral osteoarthritis (OA) reduced knee joint loads during walking compared to an attention control group. Methods This study was a secondary analysis of a randomized clinical trial that compared the effects of strength training to a ...
Stephen P. Messier +12 more
wiley +1 more source
Rheumatologic Manifestations of Patients With Type B Insulin Resistance
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya +4 more
wiley +1 more source

