38 research outputs found
Neuronal intranuclear inclusion disease is genetically heterogeneous
Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and applied in silico-based screening using whole-genome sequencing data from 20 536 participants in the 100 000 Genomes Project. We identified a single European case harbouring the pathogenic repeat expansion with a distinct haplotype structure. Thus, we propose new diagnostic criteria as European NIID represents a distinct disease entity from East Asian cases
Do First Generation Immigrant Adolescents Face Higher Rates of Bullying, Violence and Suicidal Behaviours Than Do Third Generation and Native Born?
Bleeding from peristomal varices in a cirrhotic patient with ileal conduit: treatment with transjugular intrahepatic portocaval shunt (TIPS)
A case of spermatic cord teratoma in low-stage testicular cancer managed by surveillance
Life-threatening bleeding from ileal conduit venous varices in a patient with portal hypertension
The Martensitic Transformation in Indium-Thallium Alloys
This collection is organized around the central theme of “Martensite by Design.” Contributions include design, microstructure, properties, advanced processing and manufacturing, performance, phase transformations, and characterization