Results 11 to 20 of about 363,528 (359)
Umbilical catheter placement aided by coronary guidewires
Molecular and Cellular Pediatrics, 2023 Catheterization of the umbilical vessels has proven to be an effective and relatively rapid method for gaining central vascular access in neonates.
Katarzyna Gendera +5 more
doaj +1 more source
Birth defects associated with paternal firefighting in the National Birth Defects Prevention Study
American Journal of Industrial Medicine, Volume 66, Issue 1, Page 30-40, January 2023., 2023 Abstract Background Few studies have evaluated birth defects among children of firefighters. We investigated associations between birth defects and paternal work as a firefighter compared to work in non‐firefighting and police officer occupations. Methods We analyzed 1997–2011 data from the multi‐site case‐control National Birth Defects Prevention ...
Miriam R. Siegel +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023 Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 234-237, January 2023., 2023 Abstract Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain.
Spatikha Sitaram +11 more
wiley +1 more source
Automated interpretation of congenital heart disease from multi-view echocardiograms [PDF]
Medical Image Analysis (Volume 69, April 2021, 101942), 2023 Congenital heart disease (CHD) is the most common birth defect and the leading cause of neonate death in China. Clinical diagnosis can be based on the selected 2D key-frames from five views. Limited by the availability of multi-view data, most methods have to rely on the insufficient single view analysis.
arxiv +1 more source
Nationwide Registry‐Based Analysis of Infective Endocarditis Risk After Pulmonary Valve Replacement
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022 Background Infective endocarditis (IE) after pulmonary valve replacements in congenital heart disease is a significant concern. This study aimed to identify specific long‐term risk factors for IE after percutaneous pulmonary valve implantation or ...
Clara Stammnitz +8 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023 Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia +30 more
wiley +1 more source
Frontiers in Cardiovascular Medicine, 2022 ObjectivesThis study aims to evaluate the school careers of patients with congenital heart disease (CHD) and microcephaly.MethodsAn exploratory online survey was conducted on patients from a previous study on somatic development in children with CHD in ...
Constanze Pfitzer +15 more
doaj +1 more source
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
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