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The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFNeuroprotective and inflammatory biomarkers in pediatric drug-resistant epilepsy: Interplay between GDNF, IL-1β and vitamin D 25-OH.
Narra J
December 2024
Department of Clinical Pathology, Faculty of Medicine, Universitas Imelda, Medan, Indonesia.
Drug-resistant epilepsy in pediatric patients is associated with neuroinflammation and neurodegeneration. Vitamin D 25-OH exerts neuroprotective effects, while glial cell line- derived neurotrophic factor (GDNF) and the proinflammatory cytokine interleukin-1β (IL-1β) are implicated in the mechanisms of neuroinflammation and epileptogenesis. The aim of this study was to investigate the relationship between vitamin D 25-OH, IL-1β, and GDNF levels with seizure severity and frequency in children with drug-resistant epilepsy.
View Article and Find Full Text PDFNewborn With Refractory Seizures Due To Hemimegalencephaly And Tuberous Sclerosis Complex: Case Report and Literature Review.
Neuropediatrics
January 2025
Neonatology, Leiden University, Leiden, Netherlands.
Background Hemimegalencephaly (HME) is a rare congenital disorder that is initiated during embryonic development with abnormal growth of one hemisphere. Tuberous sclerosis complex (TSC), a genetic disorder, is rarely associated with HME. Methods We present a case of a newborn with HME with a confirmed mutation in the TSC-1 gene and describe the clinical course, findings on (amplitude integrated) electroencephalography (aEEG), cranial ultrasound (CUS), MRI, and the postmortem evaluation.
View Article and Find Full Text PDFErratum to "The relation between visual functions, functional vision, and bimanual function in children with unilateral cerebral palsy" [Research in Developmental Disabilities 152 (2024) 104792].
Res Dev Disabil
January 2025
KU Leuven, Child and Youth Institute, Leuven B-3000, Belgium; KU Leuven, Department of Rehabilitation Sciences, Leuven B-3001, Belgium.
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