Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.athoracsur.2019.08.086 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Adult Congenital Heart Disease in Serbia: Insights from a Single-Center Registry.
Diagnostics (Basel)
February 2025
Cardiovascular Institute "Dedinje", 11040 Belgrade, Serbia.
Congenital heart disease (CHD), affecting approximately 1% of live births, has transitioned to a chronic condition due to advances in diagnostics and surgery, resulting in an increasing adult congenital heart disease (ACHD) population. This study characterizes the clinical and demographic profiles of ACHD patients in Serbia, focusing on congenital anomalies, mortality rates, and key clinical factors to identify opportunities for improving care and outcomes. This observational single-center study was conducted at the Cardiovascular Institute "Dedinje" in Belgrade, Serbia, involving patients diagnosed or treated for CHD between 2006 and 2022.
View Article and Find Full Text PDFLoss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Ann Neurol
September 2024
Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.
Article Synopsis
- - This study examines the link between rare variants in the cullin-3 ubiquitin ligase (CUL3) gene and neurodevelopmental disorders (NDDs), gathering data from multiple centers to explore genetic mutations and their clinical impacts.
- - Researchers identified 37 individuals with CUL3 variants, most of which result in loss-of-function (LoF), leading to intellectual disabilities and possibly autistic traits; specific mechanisms affecting protein stability were also investigated.
- - The findings enhance the understanding of NDDs associated with CUL3 mutations, suggesting that LoF variants are the main cause, which could help inform future diagnostics and treatment strategies.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Res Sq
June 2024
Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.
Article Synopsis
- Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
- To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
- The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
Effect of concomitant atrial septal defect on left ventricular function in adult patients with unrepaired Ebstein's anomaly: a cardiovascular magnetic resonance imaging study.
J Cardiovasc Magn Reson
December 2023
Department of Radiology, West China Hospital, Sichuan University, 37# Guo Xue Xiang, Chengdu, 610041, Sichuan, China.
Background: Due to the heterogeneity of anatomic anomalies in Ebstein's anomaly (EA), particularly in the subset of patients with atrial septal defect (ASD), hemodynamic changes, which ultimately cause left ventricular (LV) deterioration remain unclear. The current study aimed to investigate the effect of concomitant ASD on LV function using cardiovascular magnetic resonance (CMR) imaging in patients with EA.
Methods: This study included 31 EA patients with ASD, 76 EA patients without ASD, 35 patients with simple ASD and 40 healthy controls.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
medRxiv
October 2024
Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.
Article Synopsis
- The significant phenotypic variability of human faces complicates the work of dysmorphologists by challenging Next-Generation Phenotyping (NGP) tools, especially when analyzing patients from diverse genetic backgrounds.
- The research established the GestaltMatcher Database (GMDB), which includes over 10,000 facial images from patients with rare genetic disorders worldwide, striving to improve representation of underrepresented populations, particularly Asian and African patients.
- The analysis showed that incorporating data from non-European patients enhanced the accuracy of NGP in diagnosing facial disorders without negatively affecting performance on European patients, emphasizing the need for more diverse datasets in medical genetics.