Results 101 to 110 of about 172,801 (303)

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

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

open access: yesEnvironmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons   +17 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

Prevalence and predictors of later feeding disorders in children who underwent neonatal cardiac surgery for congenital heart disease [PDF]

open access: yes, 2017
Aim We thought of assessing the prevalence and predictors of feeding disorders in patients with congenital heart defects after neonatal cardiac surgery.
Balmer, Christian   +5 more
core  

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Cytomegalovirus infection and congenital heart disease in children

open access: yesЖурнал инфектологии, 2019
Congenital heart defects account for about 30% of all anomaly of development in children. Cytomegalovirus infection suffered by a woman during pregnancy claims one of the leading places among teratogenic factors.Aim: to study clinical and pathogenetic ...
E. A. Каshuba   +6 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Effects of Pax3 mutation and Neural Crest genetic ablation on congenital heart function and embryonic lethality [PDF]

open access: yes, 2011
poster abstractCongenital heart defects (CHDs) occur in approximately one percent of births every year (American Heart Association, 2008). This makes it the most frequently occurring congenital defect in humans.
Chikaraishi, Dona M.   +4 more
core  

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

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