Results 131 to 140 of about 369,161 (313)

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

Congenital anomalies from a physics perspective. The key role of "manufacturing" volatility [PDF]

open access: yes, 2019
Genetic and environmental factors are traditionally seen as the sole causes of congenital anomalies. In this paper we introduce a third possible cause, namely random "manufacturing" discrepancies with respect to ``design'' values. A clear way to demonstrate the existence of this component is to ``shut'' the two others and to see whether or not there is
arxiv   +1 more source

Sudden unexpected death in children with congenital heart defects.

open access: yesEuropean Heart Journal, 2016
AIMS Congenital heart defects (CHDs) are the most common birth defects and are an important cause of death in children. The fear of sudden unexpected death has led to restrictions of physical activity and competitive sports.
J. Jortveit   +9 more
semanticscholar   +1 more source

Features of the structure of heart [PDF]

open access: yes, 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  

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Prognostic value of right ventricular dyssynchrony in adults with repaired tetralogy of Fallot

open access: yesOpen Heart
Objective Residual sequelae after surgical repair of tetralogy of Fallot (rTOF) affect clinical outcome. We investigated the prognostic impact of right ventricular (RV) dyssynchrony in adults with rTOF years after the surgical repair.Methods Patients ...
Markus Schwerzmann   +7 more
doaj   +1 more source

Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]

open access: yes, 2005
Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar   +6 more
core  

Complex cardiac defects after ethanol exposure during discrete cardiogenic events in zebrafish: prevention with folic acid [PDF]

open access: yes, 2013
Fetal alcohol spectrum disorder (FASD) describes a range of birth defects including various congenital heart defects (CHDs). Mechanisms of FASD-associated CHDs are not understood.
Marrs, James A., Swapnalee, Sarmah
core   +1 more source

Internalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non‐mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized.
Ruth C. Brown   +7 more
wiley   +1 more source

Сongenital diseases of the heart among newborn children: genetic aspects

open access: yesJournal of V. N. Karazin Kharkiv National University: Series Medicine, 2019
Congenital heart defects are a heterogeneous group of diseases that occur as isolation or a part of multiple birth defects, gene disorders or chromosomal abnormalities.
Yevgenia Shargorodska
doaj   +1 more source

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