Results 61 to 70 of about 27,859 (207)
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Nationwide Hospitalization Trends in Adult Congenital Heart Disease Across 2003–2012
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016 BackgroundWe aimed to assess trends in hospitalization, outcomes, and resource utilization among patients admitted with adult congenital heart disease (ACHD). Methods and ResultsWe used the 2003–2012 US Nationwide Inpatient Sample for this study.
Shikhar Agarwal, Karan Sud, Venu Menon
doaj +1 more source
Acta Paediatrica, EarlyView.ABSTRACT Aim This study aimed to investigate the incidence, risk factors and possible aetiology of sudden unexpected postnatal collapse (SUPC), a potentially fatal yet poorly understood event. Methods In a retrospective cohort, patient records from 483 284 infants born in Stockholm, Sweden, between 2002 and 2022 were screened for SUPC‐related diagnoses.
David Forsberg +5 more
wiley +1 more source
Thoracoscopic closure of atrial septal defect in perfused beating hearts
Surgical EndoscopyThis study aims to characterize the mid and long-term clinical outcomes of 856 atrial septal defect cases that underwent closure using MTCST without the assistance of a robotic system.From June 2009 to September 2023, a total of 856 cases at our center underwent selective repair of a secundum-type atrial septal defect using MTCST without Da Vinci ...
Xingming Wang +4 more
openaire +2 more sources
Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention
ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou +5 more
wiley +1 more source
Clinical Genetics, EarlyView.Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova +5 more
wiley +1 more source
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
Clinical Genetics, EarlyView.We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr +5 more
wiley +1 more source
Positional cyanosis reveals platypnea-orthodeoxia-syndrome
Respiratory Medicine Case Reports, 2019 Platypnea-orthodeoxia syndrome is a rare cause of dyspnea, which presents upon standing and resolves when supine. Etiology is multifactorial with a functional component and an anatomical shunt. The most commonly reported shunt is an atrial septal defect,
Colin M. Kenny +3 more
doaj +1 more source
Open-heart surgery in atrial septal defect.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998 Click on the link to view.
openaire +2 more sources