Results 21 to 30 of about 1,012,141 (344)
Further characterization of NFIB‐associated phenotypes: Report of two new individuals
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023 Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella +8 more
wiley +1 more source
Scientific Reports, 2021 The right ventricle´s (RV) characteristics—thin walls and trabeculation—make it challenging to evaluate extracellular volume (ECV). We aimed to assess the feasibility of RV ECV measurements in congenital heart disease (CHD), and to introduce a novel ECV ...
Nadya Al-Wakeel-Marquard +9 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023 Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin +47 more
wiley +1 more source
Pulmonary Circulation, 2020 Pulmonary hypertension is a chronic disease developing progressively with high mortality. Pulmonary hypertension patients need persistent medical care; however, limited reports focused on them when there was an outbreak of coronavirus disease 2019 in ...
Hongmei Zhou +7 more
doaj +1 more source
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
Subcutaneous finger cardioverter-defibrillator in low weight paediatric patients: a case series
Monaldi Archives for Chest Disease, 2022 Placement of traditional transvenous implantable cardioverter defibrillator (ICD) system in low-weight children is often difficult because of their vessel size, the elevated risk of lead malfunction and failure, children’s growth and various anatomic ...
Berardo Sarubbi +7 more
doaj +1 more source
Challenges of congenital heart disease in grown-up patients
Swiss Medical Weekly, 2017 Nowadays, more than 90% of all children born with congenital heart disease (CHD) reach adult life. Although initially considered to be cured, the majority of them continue to need specialised follow-up because they require re-do interventions or are at
Markus Schwerzmann +5 more
doaj +1 more source
, 2023 American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno +11 more
wiley +1 more source
Survival in Children With Congenital Heart Disease: Have We Reached a Peak at 97%?
Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 2020 Background Despite advances in pediatric health care over recent decades, it is not clear whether survival in children with congenital heart disease (CHD) is still increasing.
Z. Mandalenakis +8 more
semanticscholar +1 more source
Use of hydrocolloid dressing in infants requiring open chest management after cardiac surgery
Surgical Case Reports, 2021 Purpose Sternal splintage is known as an effective maneuver to stabilize hemodynamics during the immediate postoperative period, particularly in very sick infants. On the other hand, its wound management is not always straightforward.
Shinya Yokoyama +4 more
doaj +1 more source