Results 141 to 150 of about 366,922 (396)

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

Heart failure with preserved ejection fraction in cancer patients and survivors. A scientific statement of the Heart Failure Association of the ESC and the ESC Council of Cardio‐Oncology

open access: yesEuropean Journal of Heart Failure, EarlyView.
Specific characteristics of HFpEF universal definition in cancer patients. Abstract Heart failure with preserved ejection fraction (HFpEF) is increasingly recognized in cancer patients and survivors, yet it remains underdiagnosed and its epidemiology largely unknown.
Kalliopi Keramida   +21 more
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  

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

open access: yesThorax, 2018
Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype–phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects ...
Sunayna Best   +27 more
semanticscholar   +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

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

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

Trametinib alters contractility of paediatric Noonan syndrome‐associated hypertrophic myocardial tissue slices

open access: yesESC Heart Failure
Aims No curative treatment is available for RASopathy‐associated childhood‐onset hypertrophic cardiomyopathy (RAS‐CM). Preclinical data and individual reports suggest a beneficial effect of small molecules targeting the RAS–mitogen‐activated protein (MAP)
Jules Hamers   +11 more
doaj   +1 more source

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