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Boricua Founder Variant in Causes Epileptic Encephalopathy With Hyperkinetic Movements.
J Child Neurol
February 2021
Section of Neurology, Department of Pediatrics, 14521St. Christopher's Hospital for Children Drexel University College of Medicine, Philadelphia, PA, USA.
Objective: To describe a founder mutation effect and the clinical phenotype of homozygous c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting with early infantile epileptic encephalopathy (EIEE-37) with prominent movement disorder.
View Article and Find Full Text PDFThe Optimal Ileal Pouch: Physiologic Parameters Significantly Correlate with Overall Pouch Function.
J Gastrointest Surg
May 2021
Section of Colon and Rectal Surgery, University of Wisconsin-Madison, Madison, WI, USA.
Background: Ileal pouch function is affected by several patient factors and pouch physiology. The significance of pouch physiology on optimal pouch function has not been well characterized. The purpose of this study was to examine specific post-ileal pouch anal anastomosis (IPAA) physiologic parameters to determine impact on pouch function and quality of life.
View Article and Find Full Text PDFOpioid-induced toxic leukoencephalopathy: A case report and review of the literature.
Heliyon
December 2019
Shriners Hospitals for Children-Philadelphia, Departments of Orthopaedic and Neurosurgery, 3551 N Broad St, Philadelphia, PA, 19140, USA.
Importance: Reports of toxic leukoencephalopathy (TLE) due to opioids have been extensively documented within the adult literature. There is a paucity of literature with respect to the incidence, complications, and outcomes of TLE in the pediatric population.
Objective: To describe a rare complication of opioid ingestion in the pediatric population and serve as the first large review of published cases of opioid-induced leukoencephalopathy.
Advances in the management of rectal cancer.
Curr Probl Surg
November 2019
University of Wisconsin-Madison, Madison, WI. Electronic address:
Safety and Efficacy of Brivaracetam in Pediatric Refractory Epilepsy: A Single-Center Clinical Experience.
J Child Neurol
February 2020
Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA, USA.
Brivaracetam is a new antiepileptic drug with limited data in children. The objective of this study was to assess the efficacy/tolerability of brivaracetam. This is a retrospective chart review of children/adolescents with refractory epilepsy treated with brivaracetam from 2016 to 2018.
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