SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas+18 more
wiley +1 more source
Effect of Mini-CEX as formative learning tool for clinical skills in undergraduate medical students in a private medical university in Karachi, Pakistan. [PDF]
Durrani SF+5 more
europepmc +1 more source
Diffusion Tractography Biomarker for Epilepsy Severity in Children With Drug‐Resistant Epilepsy
ABSTRACT Objective To develop a novel deep‐learning model of clinical DWI tractography that can accurately predict the general assessment of epilepsy severity (GASE) in pediatric drug‐resistant epilepsy (DRE) and test if it can screen diverse neurocognitive impairments identified through neuropsychological assessments.
Jeong‐Won Jeong+7 more
wiley +1 more source
From Assistance to Autonomy: Evaluating Procedural Competency in Pediatric Emergency Medicine. [PDF]
Barber R+7 more
europepmc +1 more source
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz+20 more
wiley +1 more source
Correction: Determinants of community-based home care service demand among urban older adults in Shanxi, China: a cross-sectional psychological perspective. [PDF]
Li H, Sun S, Bartomeu-Magaña E, Wei X.
europepmc +1 more source
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun+95 more
wiley +1 more source
Two decades of accreditation in Chilean medical education: outcomes and lessons learned. [PDF]
Yañez OJ+3 more
europepmc +1 more source