Results 101 to 110 of about 350,391 (383)

Ethnic and socioeconomic variation in incidence of congenital heart defects

Archives of Disease in Childhood, 2016
Introduction Ethnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking.
R. Knowles, D. Ridout, S. Crowe, C. Bull, J. Wray, J. Tregay, R. Franklin, D. Barron, D. Cunningham, R. Parslow, K. Brown   +10 more
semanticscholar   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Case Report: Heart aneurysm of unknown origin in a two-year-old child diagnosed in the course of Multisystem Inflammatory Syndrome in Children

Frontiers in Cardiovascular Medicine
We present a case of a 22-month-old boy with a hypokinetic and thin-walled aneurysm of the left ventricle apex. The lesion was diagnosed during routine echocardiography examination in the course of MIS-C, and its occurrence due to MIS-C is plausible ...
Dominika Mystkowska, Michal Galeczka, Wojciech Tarala, Pawel Banaszak, Joanna Sliwka, Szymon Pawlak, Roland Fiszer   +6 more
doaj   +1 more source

Palliative procedures for congenital heart defects

Archives of Cardiovascular Diseases, 2009
Although total repair of some congenital heart defects is possible in young children, palliative procedures still play an important role in relieving patients' symptoms, particularly in emergent settings, when total correction or surgical repair is not available.
Hua Jing, Shi-Min Yuan
openaire   +3 more sources

Risk of Congenital Heart Defects after Ambient Heat Exposure Early in Pregnancy

Environmental Health Perspectives, 2016
Background: Congenital heart defects may be environmentally related, but the association with elevated ambient temperature has received little attention. Objectives: We studied the relationship between outdoor heat during the first trimester of pregnancy
N. Auger, W. Fraser, R. Sauve, M. Bilodeau-Bertrand, T. Kosatsky   +4 more
semanticscholar   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Epidemiology of paediatric chronic heart failure in Germany—A population‐based analysis

ESC Heart Failure
Aims Paediatric chronic heart failure (CHF) is associated with significant morbidity. The aim of this study was to describe paediatric CHF epidemiology in Germany.
Alexej Bobrowski, Sven Klebs, Marco Alibone, Leonore Bovy, Dennis Häckl, Thilo Fleck, Brigitte Stiller   +6 more
doaj   +1 more source

Features of the structure of heart [PDF]

, 2017
Introduction. Knowledge of century features of a structure of heart of newborns is necessary for diagnostics and treatment of defects of heart, in connection with the high level of birth rate of children with defects of heart.
Moskalenko, E.A.
core  

Profile and risk factors for congenital heart defects: A study in a tertiary care hospital

Annals of Pediatric Cardiology, 2016
Introduction: Congenital heart defects (CHDs) are an important cause of mortality and morbidity in children representing a major global health burden. It is thus important to determine their prevalence and spectrum and identify risk factors associated ...
S. Abqari, Akash Gupta, T. Shahab, Rabbani Mu, SManazir Ali, U. Firdaus   +5 more
semanticscholar   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source