Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Periocular Pigmentation After Gemcitabine Monotherapy for Bladder Cancer: A Rare Case Report. [PDF]
Clin Case RepJuan L, Weiping C.
europepmc +1 more source
Efficacy of Fampridine on Refractory Optic Neuritis in Neuromyelitis Optica Spectrum Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Neuromyelitis optica spectrum disorders (NMOSD) usually occur with acute refractory optic neuritis (ON). However, there is a lack of efficacious treatments to improve recovery. Since fampridine has been found to improve the prognosis of multiple sclerosis (MS) and MS‐related ON, it is necessary to explore the efficacy of fampridine ...
Hongxuan Wang +9 more
wiley +1 more source
AI-Based Automated Segmentation of the Mandibular Cortex and Mental Foramen for Radiomorphometric Measurement on Panoramic Radiographs: A Feasibility Study. [PDF]
Diagnostics (Basel)Görür SA +6 more
europepmc +1 more source
The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta +11 more
wiley +1 more source
Four‐Year Cognitive Outcomes in Multiple Sclerosis: Associations With Lesion Myelin Integrity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Cognitive impairment is prevalent in patients with multiple sclerosis (MS) but whether lesion myelin integrity influences future cognitive outcomes remains unclear. We investigated the relationship between baseline lesion myelin water fraction (MWF) and cognitive performance 4 years later.
Iliana Pliska‐Bloch +9 more
wiley +1 more source
Case Report: A case of secondary syphilis with clinical manifestations resembling granuloma annulare. [PDF]
Front Med (Lausanne)Xu T, Chen W, Shen Y, Ge Y.
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective To evaluate utility of an artificial intelligence (AI) health coach for systemic sclerosis (SSc) self‐management and identify patterns associated with participant engagement. Methods We conducted a mixed methods study in which an AI health coach, powered by a large language model (LLM), was used to support self‐management for SSc.
Nirali Shah +4 more
wiley +1 more source
The scientific African diaspora in the Nordic region: policy perspectives on strengthening Africa-Nordic technology collaboration. [PDF]
Front Res Metr AnalAfrifa DA, Del Valle AC.
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale +6 more
wiley +1 more source