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Synaptic Vesicle glycoprotein 2A knockout in parvalbumin and somatostatin interneurons drives seizures in the postnatal mouse brain.
J Neurosci
January 2025
Nervous System Disorders and Therapy, GIGA Institute, University of Liège, 4000 Liège, Belgium
Synaptic vesicle glycoprotein 2A (SV2A) is a presynaptic protein targeted by the antiseizure drug levetiracetam. One or more of the three SV2 genes is expressed in all neurons and is essential to normal neurotransmission. Loss of SV2A results in a seizure phenotype in mice and mutations in humans are also linked to congential seizures.
View Article and Find Full Text PDFUse of low titer O whole blood in infants and young children undergoing cardiac surgery with cardiopulmonary bypass.
Transfusion
November 2024
Division of Pediatric Hematology, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Background: Low titer group O whole blood (LTOWB) is commonly used for severe bleeding in trauma patients. LTOWB may also benefit young children requiring cardiac surgery with cardiopulmonary bypass (CPB) at risk of severe bleeding.
Study Design And Methods: In this retrospective study, children <2 years old who underwent cardiac surgery with CPB were included.
Introduction of transcatheter edge-to-edge repair in patients with congenital heart disease at a children's hospital.
Catheter Cardiovasc Interv
February 2024
Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Background: Atrioventricular valve regurgitation (AVVR) is a devastating complication in children and young adults with congenital heart disease (CHD), particularly in patients with single ventricle physiology. Transcatheter edge-to-edge repair (TEER) is a rapidly expanding, minimally invasive option for the treatment of AVVR in adults that avoids the morbidity and mortality associated with open heart surgery. However, application of TEER in in CHD and in children is quite novel.
View Article and Find Full Text PDFBiliary sepsis complication with congenital hepatic fibrosis: an unexpected outcome.
BMC Infect Dis
October 2023
Department of Infectious Disease (Liver Diseases), The Affiliated Hospital of Hangzhou Normal University, Zhejiang, 310015, China.
Background: CHF (Congenital hepatic fibrosis) is a rare hereditary disease characterized by periportal fibrosis and ductal plate malformation. Little is known about the clinical presentations and outcome in CHF patients with an extraordinary complication with biliary sepsis. Our case described a 23-year-old female diagnosed as CHF combined with biliary sepsis.
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