De novo formation of familial intracranial aneurysm.

J Stroke Cerebrovasc Dis

Department of Neurosurgery, Kyorin University School of Medicine, Tokyo, Japan.

Published: November 2007

We report a 56-year-old woman whose father and 2 of 3 sisters had cerebral aneurysms, and who developed de novo aneurysm 5 years after a screening.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2003.09.013DOI Listing

Publication Analysis

Top Keywords

novo formation
4
formation familial
4
familial intracranial
4
intracranial aneurysm
4
aneurysm report
4
report 56-year-old
4
56-year-old woman
4
woman father
4
father sisters
4
sisters cerebral
4

Similar Publications

Ketogenesis is a dynamic metabolic conduit supporting hepatic fat oxidation particularly when carbohydrates are in short supply. Ketone bodies may be recycled into anabolic substrates, but a physiological role for this process has not been identified. Here, we use mass spectrometry-based C-isotope tracing and shotgun lipidomics to establish a link between hepatic ketogenesis and lipid anabolism.

View Article and Find Full Text PDF

Background: This study aimed to investigate the effects of oral semaglutide on the changes in food preference of Japanese patients with type 2 diabetes.

Methods: This retrospective multicenter study included 75 patients with type 2 diabetes who received oral semaglutide. The primary outcome was the change in the score of brief-type self-administered diet history questionnaire (BDHQ) score 3 months after the initiation of oral semaglutide treatment.

View Article and Find Full Text PDF

Cells form multiple, molecularly distinct membrane contact sites (MCSs) between organelles. Despite knowing the molecular identity of several of these complexes, little is known about how MCSs are coordinately regulated in space and time to promote organelle function. Here, we examined two well-characterized mitochondria-ER MCSs - the ER-Mitochondria encounter structure (ERMES) and the mitochondria-ER-cortex anchor (MECA).

View Article and Find Full Text PDF

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders.

Mol Genet Genomic Med

February 2025

Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.

Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.

View Article and Find Full Text PDF

Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding variants (ncDNVs) with sulcal patterns in people with CHD remains poorly understood. Leveraging deep learning models, we examined the predicted impact of ncDNVs on gene regulatory signals.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!