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Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.
iScience
February 2025
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the association of noncoding variants (ncDNVs) with sulcal patterns in people with CHD remains poorly understood. Leveraging deep learning models, we examined the predicted impact of ncDNVs on gene regulatory signals.
View Article and Find Full Text PDFBackground: Cerebral venous thrombosis (CVT) is a rare condition in children, and its description remains limited in North Africa. The objective of our study was to describe the clinical, etiological, radiological, therapeutic, and evolutionary characteristics of children with CVT in western Algeria.
Methods: This was a retrospective observational study involving children with CVT.
A Novel MACF1 Gene Mutation: Expanding the Fetal and Neonatal Phenotype.
Pediatr Neurol
January 2025
Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Mid-trimester resolution of marked dextroposition of the fetal heart preceding regression of extensive left fetal lung lesion consisting of hybrid congenital pulmonary airway malformation (CPAM) and bronchopulmonary sequestration (BPS).
Radiol Case Rep
March 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, State University of New York (SUNY), Downstate Health Sciences University, Brooklyn, NY, USA.
Extensive congenital pulmonary airway malformation (CPAM) of the left fetal lung and associated marked dextroposition of the fetal heart were noted at 21 weeks' gestation. The right fetal lung appeared compressed with the cardiomediastinal shift angle measuring approximately 20 degrees. Potential subsequent right pulmonary hypoplasia was considered.
View Article and Find Full Text PDFNeurological disorders in Pregnancy: Radiological insights and Obstetric implications.
Pak J Med Sci
January 2025
Huma Shams, MBB Department of Obstetrics and Gynaecology, Medical Teaching Institute, Lady Reading Hospital, Peshawar, Pakistan.
Objective: To explore the radiological findings of neurological disorders in obstetrics patients, their obstetric and fetal outcome.
Method: The cross-sectional study was conducted at Lady Ready Hospital (LRH), Peshawar from June 2022 till March, 2023. Sixty two obstetric patients with neurological symptoms were included.
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