Month: <span>August 2024</span>
Month: August 2024

Dysregulation of cerebrospinal fluid metabolism profiles in spinal muscular atrophy patients: a case control study

Ital J Pediatr. 2024 Aug 22;50(1):154. doi: 10.1186/s13052-024-01726-6. ABSTRACT BACKGROUND: Spinal muscular atrophy (SMA) is a neurodegenerative disorder. Although prior studies have investigated the metabolomes …

Exploring the relationship between media use and depressive symptoms among gender diverse youth: findings of the Mental Health Days Study

Child Adolesc Psychiatry Ment Health. 2024 Aug 22;18(1):104. doi: 10.1186/s13034-024-00797-x. ABSTRACT BACKGROUND: Over the past decades, media use has become a key aspect of young …

Integrated prenatal and postnatal management for neonates with transposition of the great arteries: thirteen-year experience at a single center

Ital J Pediatr. 2024 Aug 22;50(1):153. doi: 10.1186/s13052-024-01730-w. ABSTRACT BACKGROUND: Transposition of the great arteries (TGA) is the most common cyanotic congenital heart defect in …

Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study

Orphanet J Rare Dis. 2024 Aug 22;19(1):306. doi: 10.1186/s13023-024-03292-w. ABSTRACT BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede …

Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study

BMC Pediatr. 2024 Aug 22;24(1):536. doi: 10.1186/s12887-024-05012-6. ABSTRACT BACKGROUND: There are no established guidelines for the follow up of infants born after a prenatal diagnosis …