Results 71 to 80 of about 99,772 (304)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Heart disease in infants of diabetic mothers [PDF]

, 2000
Congenital anomalies occur more commonly in infants born to diabetic mothers, and cardiac defects predominate. Although respiratory problems are also frequently found in those infants, they need to be differentiated from cardiovascular problems that ...
Narchi, Hassib, Kulaylat, N.
core  

Coping strategies described by children with congenital heart defects.

, 2016
Coping strategies described by children with congenital heart defects.
Jugnoo Sangeeta Rahi (3143364), Carol Dezateux (346290), Ailbhe Hogan (3143355), Valerija Tadic (3143358), Catherine Bull (627946), Rachel Louise Knowles (3143361)   +5 more
core   +1 more source

Aortic valve neocuspidization in children: A systematic review and meta-analysisCentral MessagePerspective

JTCVS Open
Background: Aortic valve neocuspidization (AVNeo) has emerged as a reconstructive alternative for children with aortic valve disease who are poor candidates for prosthetic replacement or the Ross procedure.
Andrey Semyashkin, MD, Julia Nesteruk, MD, Lotfi Ben Mime, MD   +2 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Abnormal endothelial factor VIII associated with pulmonary hypertension and congenital heart defects.

, 1987
In patients with pulmonary hypertension associated with congenital heart defects, ultrastructural abnormalities are observed in endothelial cells, which suggest heightened metabolic function.
M Rabinovitch, W G Williams, G A Trusler, M Andrew, H Thom, R D Rowe, P M Olley   +6 more
core   +1 more source

Importance of micronutrient supplementation in children with congenital heart defects in Nigeria

, 2021
The prevalence of congenital heart defects is increasing globally. Improvements in surgical techniques have resulted in increased life expectancy for individuals with heart defects.
Onalo, R.
core   +2 more sources

Percutaneous pulmonary valve implantation in a patient with congenitally corrected transposition of the great arteries: a case report

Journal of Medical Case Reports
Background Percutaneous pulmonary valve implantation has become an attractive method of dysfunctional right ventricle outflow tract treatment. Case presentation We describe a unique case of a 20-year-old Caucasian male patient with a complex cyanotic ...
Michal Kapalka, Michal Galeczka, Michal Krawiec, Roland Fiszer   +3 more
doaj   +1 more source

Pentoxifylline dose finding trial in preterm neonates with suspected late onset sepsis (PTX‐trial)

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study (PTX‐trial) is to determine the optimal dose of pentoxifylline (PTX) in preterm neonates (gestational age < 30 weeks) with (suspected) late onset sepsis (LONS). Methods The PTX‐trial is a prospective multicentre open‐label sequential dose‐optimization study with an adapted continual reassessment method.
Serife Kurul, H. Rob Taal, Jan Mazela, Ryszard Lauterbach, Irwin K. M. Reiss, Karel Allegaert, Robert B. Flint, Sinno H. P. Simons   +7 more
wiley   +1 more source