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The dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Transaction 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.
Heliyon
January 2025
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.
View Article and Find Full Text PDFExperiences of Patients and Families Living with Krabbe Disease.
J Patient Exp
January 2025
Division of Health Science, Child Healthcare and Genetic Science Laboratory, Osaka University Graduate School of Medicine, Suita, Japan.
The challenges faced by patients with Krabbe disease remain unelucidated. This study aimed to identify these challenges and facilitate the development of methods for assessing the quality of life. This qualitative descriptive study used in-person or online semistructured interviews from March to December 2022 using a qualitative content analysis approach.
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