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Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
Neurogenetics
December 2024
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.
View Article and Find Full Text PDFCase Report: Primary catastrophic antiphospholipid syndrome in a pediatric patient with cerebral venous sinus thrombosis as the first manifestation.
Front Pediatr
December 2024
Pediatric Intensive Care Unit, The Second Hospital of Lanzhou University, Lanzhou, China.
Background: Antiphospholipid syndrome (APS) is an autoimmune disease characterized by recurrent vascular thrombotic events. Catastrophic APS (CAPS), which can result in multiple organ failure and even death, is the most severe manifestation of APS. Herein, we report the case of a pediatric patient with CAPS, including the clinical course, diagnosis, and treatment, with the goal of expanding the literature on this condition, as reports of CAPS in pediatric patients are rare.
View Article and Find Full Text PDFPrenatal exposure to endocrine disrupting chemicals and the association with behavioural difficulties in 7-year-old children in the SELMA study.
J Expo Sci Environ Epidemiol
December 2024
Department of Health Sciences, Karlstad University, Karlstad, Sweden.
Background: Endocrine disrupting chemicals (EDCs) can cross the placenta and thereby expose the fetus, which may lead to developmental consequences. It is still unclear which chemicals are of concern regarding neurodevelopment and specifically behaviour, when being exposed to a mixture.
Objective: The objective is to determine associations between prenatal exposure to EDCs and behavioural difficulties.
Hyperostotic meningiomas in children. A case-based update.
Childs Nerv Syst
December 2024
Pediatric Neurosurgery, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Background: Meningiomas are rare tumors in children compared with adults. Their main peculiarities are the frequent convexity or intraventricular location, the common association with neurofibromatosis-2 (NF-2) and the relatively high rate of aggressive and/or hyperostotic variants. Hyperostosis may complicate the surgical management.
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