Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
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
A Two‐Stage Plasma Biomarker Algorithm Reduces Amyloid PET Use and the p‐Tau217 Gray Zone
ABSTRACT Objective Plasma p‐Tau217 leaves 30%–50% of patients in an indeterminate “gray zone” often requiring Aβ‐PET. We developed GRAD (Gatekeeper‐Reflex for Alzheimer's Disease), a two‐stage Aβ‐positivity prediction model to improve classification while reserving Aβ‐PET for residual uncertainty.
Harthik Parankusham +7 more
wiley +1 more source
Correction: Association of gut microbiota with lactose intolerance and coeliac disease: a two-sample Mendelian randomization study. [PDF]
Han Z +15 more
europepmc +1 more source
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart +5 more
wiley +1 more source
Security Risks in O-RAN: Vulnerabilities and Mitigation Countermeasures
Johnny Choque +3 more
openaire +2 more sources
Synthesis of Comb-like and Coil-Comb Polystyrene-Polyglycidol Copolymers via Click Chemistry: Self-Assembly and Biological Evaluation. [PDF]
Toncheva-Moncheva N +8 more
europepmc +1 more source
Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi +10 more
wiley +1 more source
RAN Translation-Coupled Decay of the <i>C9orf72</i> GGGGCC Repeat Transcript by the RNA Exosome Suppresses Dipeptide Repeat Production. [PDF]
Wu Y +8 more
europepmc +1 more source
Real‐World Safety of Concomitant Colchicine and Statin Therapy
Objective This study aimed to evaluate the risk of clinically meaningful muscle‐ and liver‐related outcomes associated with concomitant colchicine–statin therapy in a real‐world setting, and to determine whether concomitant therapy increases the incidence of toxicity compared with either agent alone.
Roni Meidan +5 more
wiley +1 more source
Anticipating interactions: a predictive diffusion framework for evolving bimanual manipulation. [PDF]
Liu X +7 more
europepmc +1 more source

