Results 111 to 120 of about 41,491 (252)
ABSTRACT The detailed anatomical situation of male stillborn cephalo‐thoracopagus twins in a wild ranging northern bat (Eptesicus nilssonii) is described by means of full body micro‐CT scans in high resolution with three‐dimensional computational reconstruction.
J. Meyer +5 more
wiley +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk
ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark +7 more
wiley +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
Mutational screening of exon 1 of smad7 in Malay patients with ventricular septal defect [PDF]
Congenital heart disease (CHD) affects approximately 8 in every 1000 live births with ventricular septal defect (VSD) being the most common phenotype.
Hashim, Hashima
core
ABSTRACT Iatrogenic perforation of the left atrium and aorta during transseptal puncture (TSP) is a rare but potentially life‐threatening complication. This report presents the case of an elderly male patient with a 20‐year history of atrial fibrillation who experienced this complication during a scheduled left atrial appendage closure procedure ...
Zhihao Wu +6 more
wiley +1 more source
Challenging right ventricular pacing in a patient with transitional atrioventricular septal defect
A 56-year-old woman, known in her past medical history with uncorrected atrioventricular septal defect, secondary pulmonary hypertension, and permanent atrial fibrillation, with repeated hospitalizations for congestive heart failure over the years ...
Stoiculescu Flavia-Mihaela +5 more
doaj +1 more source
Arrhythmias After Tetralogy of Fallot Repair [PDF]
Tetralogy of Fallot is the most common cyanotic congenital heart disease, with a good outcome after total surgical correction. In spite of a low perioperative mortality and a good quality of life, late sudden death remains a significant clinical problem,
Daliento, Luciano +1 more
core +1 more source
ABSTRACT A patient with tricuspid valve atresia and pulmonary artery valve stenosis underwent a total cavo‐pulmonary circulation with an unfenestrated intracardiac conduit. He experienced poorly tolerated atrial tachycardia and was referred for radiofrequency catheter ablation (RFCA). No interatrial shunt was evident.
Marco Scaglione +7 more
wiley +1 more source

