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Genetics of biliary atresia: Approaches, pathological insights and challenges.
Semin Pediatr Surg
January 2025
Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Dr Li Dak-Sum Research Centre, The University of Hong Kong - Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China. Electronic address:
Biliary atresia (BA) is a severe neonatal cholestatic disorder marked by fibro-obliteration of the extrahepatic and intrahepatic bile ducts. It is the most common cause of pediatric end-stage liver disease and the leading indication for liver transplantation in children. There is significant heterogeneity in the etiology, involving various genetic and environmental factors such as viral infection, immune dysregulation and genetic predisposition to defective hepatobiliary development.
View Article and Find Full Text PDFOur Experience of Managing Central Airway Tumors: Anesthesia Perspectives.
Ann Card Anaesth
January 2025
Department of Cardiac Anesthesia, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
Adult patients with central airway tumors commonly present with dyspnea on exertion. These patients may remain asymptomatic until more than half of the airway diameter is obliterated. Anesthesia for debulking a central airway tumor is challenging.
View Article and Find Full Text PDFJansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
JBMR Plus
February 2025
Radiology and Imaging Sciences, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892, United States.
Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by constitutive activation of parathyroid hormone type 1 receptor (PTH1R). We sought to characterize the craniofacial phenotype of patients with the disease. Six patients with genetically confirmed JMC underwent comprehensive craniofacial phenotyping revealing a distinct facial appearance that prompted a cephalometric analysis demonstrating a pattern of mandibular retrognathia.
View Article and Find Full Text PDFAnalysis of the incidence of death, hemorrhage, and neurological deficit in the treatment of intracranial arteriovenous malformations (AVMs): surgery versus other treatments - a systematic review.
Neurosurg Rev
January 2025
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
To evaluate the incidence of mortality, hemorrhage, and neurological deficits in treating intracranial arteriovenous malformations (AVMs) in patients over 18 through a comparative analysis of surgical approaches and other therapeutic modalities. A systematic review was conducted using MEDLINE, Embase, CENTRAL, and LILACS databases in November 2023. Inclusion criteria included clinical trials, cohorts studies, case-controls studies, and case series comparing patients over 18 undergoing surgery or microsurgery versus other treatments (radiosurgery, isolated embolization, and conservative treatment).
View Article and Find Full Text PDFSmall Bowel Obstruction Linked to Meckel's Diverticulum: A Rare Case.
Cureus
December 2024
General Surgery, Local Health Unit of Alto Minho, Viana do Castelo, PRT.
Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract, arising from incomplete obliteration of the vitelline duct. MD contains all layers of the intestinal wall and often remains asymptomatic. Gastrointestinal bleeding, bowel obstruction, and acute diverticulitis occur in a few cases.
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