Results 101 to 110 of about 30,614 (282)
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, EarlyView.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Modeling of the Tricuspid Valve and Right Ventricle in Hypoplastic Left Heart Syndrome With a Fontan Circulation [PDF]
, 2023 Hannah H. Nam +16 more
openalex +1 more source
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv +12 more
wiley +1 more source
Hybrid approach for hypoplastic left heart syndrome and its variants: the fate of the pulmonary arteries [PDF]
, 2017 OBJECTIVES To analyse the results of hybrid palliation of hypoplastic left heart syndrome (HLHS) patients and its variants with an emphasis on the long-term fate of the pulmonary arteries.
Dave, Hitendu +5 more
core
The emerging roles of ribosome biogenesis in craniofacial development. [PDF]
, 2014 Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core +2 more sources
Developmental Medicine &Child Neurology, EarlyView.This paper evaluated the interrater reliability, concurrent validity and responsiveness of the Children's Eating and Drinking Activity Scale ‐ a measure of functional outcome for children with paediatric feeding disorder. Abstract Aim To assess the interrater reliability, concurrent validity, and responsiveness of the Children's Eating and Drinking ...
Ericka Joinelle Mantaring +4 more
wiley +1 more source
Anales de Pediatría, 2019 Resumen: Desde que Norwood et al. efectuaron la primera paliación exitosa en 1983, ha habido cambios sustanciales en el diagnóstico, el manejo y el pronóstico del síndrome de corazón izquierdo hipoplásico. La supervivencia en el estadio i de la paliación
Victor Bautista-Hernandez +3 more
doaj +1 more source
Hypoplastic Left Heart Syndrome
, 2022 Hypoplastic left heart syndrome (HLHS) is a complex congenital heart disease (CHD) involving hypoplasia of the left ventricle (LV), aorta (Ao), and mitral valve. HLHS was uniformly fatal in the past, now survivable with 3-stage surgical palliation. However, there is high morbidity and mortality, with 25% of HLHS patients either dying or having a heart ...
Yolandee, Bell-Cheddar, +6 more
openaire +2 more sources
The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source