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Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.
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Pediatrics Department, Genetics Unit, Mansoura University, Mansoura, Egypt.
Background: Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase. This condition leads to muscle weakness, respiratory problems, and heart abnormalities in affected individuals.
Methods: The aim of the study is to share our experience through cross sectional study of patients with infantile-onset Pompe disease (IOPD) with different genetic variations, resulting in diverse clinical presentations.
Neonatal but not Juvenile Gene Therapy Reduces Seizures and Prolongs Lifespan in SCN1B-Dravet Syndrome Mice.
J Clin Invest
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Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
Dravet syndrome (DS) is a developmental and epileptic encephalopathy (DEE) that begins in the first year of life. While most cases of DS are caused by variants in SCN1A, variants in SCN1B, encoding voltage-gated sodium channel β1 subunits, are also linked to DS or to the more severe early infantile DEE. Both disorders fall under the OMIM term DEE52.
View Article and Find Full Text PDFTransaction of parental cognition, stress and depressive symptoms, and infant regulatory challenges.
Infant Ment Health J
January 2025
Department of Psychology, Faculty of Health Sciences, UiT The Arctic University of Norway, Tromsø, Norway.
Parental cognitions, stress, depression, and infant regulatory challenges might reinforce each other in the early parent-infant relationship. A transactional model was used as a framework to investigate these relationships. Two hundred and twenty pregnant women and their partners were recruited during pregnancy and followed 7 months postnatally in the NorBaby study in Norway.
View Article and Find Full Text PDFFunctional gastrointestinal disorders predictors in neonates and toddlers: A machine learning approach to risk assessment.
Heliyon
January 2025
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Background: Functional Gastrointestinal Disorders (FGIDs) can pose a great burden on affected children, their families, and the healthcare system. Due to the lack of knowledge about the precise pathophysiology of FGIDs, a proper identification of children at risk to develop FGIDs has never been attempted. The research aims to identify early-life risk factors for FGIDs such as infantile colic, regurgitation, and functional constipation, within the first year of life.
View Article and Find Full Text PDFNovel nonsense mutation in gene identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
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Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay Batyr Ave 53, Astana, 010000, Kazakhstan.
Epilepsy is one of the most common neurological disorders affecting approximately 50 million people worldwide. It impacts people of all genders and ages, but evidence suggests a higher incidence rate in children and the elderly. Given that childhood epilepsy has the risk of causing developmental epileptic encephalopathy, which is associated with intellectual, behavioral, and/or motor disabilities, proper assessment of children with new-onset epilepsy at an early stage is essential to prevent threats affecting neurodevelopmental processes.
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