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Rare DDX3X Gene Mutation in a Male Newborn With Super-refractory Status Epilepticus Responding to Lacosamide Drug Therapy.
Cureus
December 2024
Pediatric Neurology, Bahrain Defence Force Hospital, Riffa, BHR.
Super-refractory status epilepticus (SRSE) is defined as status epilepticus that persists or recurs after treatment with anesthetic agents for more than 24 hours, including cases with recurrent seizures on reduction or withdrawal of anesthetic drugs. Super-refractory status epilepticus presents a significant challenge for neurologists, particularly when standard treatments fail to achieve seizure control. Lacosamide, which has a unique mechanism involving modulating voltage-gated sodium channels by enhancing their slow inactivation, has emerged as a potential option for managing SRSE.
View Article and Find Full Text PDFAbdominal pain as a novel manifestation in children with PCDH19-related epilepsy: A case report.
Medicine (Baltimore)
January 2025
Department of Neonatal, Children's Hospital Affiliated to Shandong University/Jinan Children's Hospital, Jinan, Shandong, China.
Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.
Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.
Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants.
Neurol Sci
December 2024
Neurophysiopathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Introduction: Biallelic variants in QARS1, a house-keeping gene involved in protein synthesis, cause a rare encephalopathy classically characterized by severe developmental delay, drug-resistant neonatal-onset epilepsy, microcephaly, and brain atrophy. We aim to raise awareness on mild QARS1-related phenotypes describing a 6-year-old patient.
Case Description: Epilepsy onset occurred at 3.
Intraventricular Glioblastoma in a Neonate: A Case Report and Literature Review.
Cureus
November 2024
Department of Neurosurgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Jeddah, SAU.
Article Synopsis
- Intraventricular glioblastoma multiforme (GBM) is an uncommon brain tumor, especially in infants, with this case detailing a 54-day-old baby who presented with symptoms of increased head size and vomiting.
- The infant underwent surgery to remove the tumor, which was confirmed to be a pediatric-type glioblastoma through histopathological examination.
- Over a 10-year follow-up, the child experienced developmental delays and seizures but showed no signs of tumor recurrence, indicating a rare instance of long-term survival after this aggressive cancer.
Coupling Pre- and Postnatal Infant Exposures with Physiologically Based Pharmacokinetic Modeling to Predict Cumulative Maternal Levetiracetam Exposure During Breastfeeding.
Clin Pharmacokinet
December 2024
School of Pharmacy, University of Waterloo, Kitchener, ON, Canada.
Background And Objective: Although breastfeeding ensures optimal infant development and maternal health, mothers taking medications may abandon breastfeeding because of uncertainties regarding toxicity to infants. Current methods in predicting infant risk to maternal medication exposure do not account for breastfeeding-related variability or in utero exposure via the umbilical cord (UC). Previously, our workflow integrated variability in infant anatomy and physiology, breast milk intake volume, and drug concentrations in breast milk using physiologically based pharmacokinetic (PBPK) modeling.
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