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Cholangitis and Congestive Heart Failure Secondary to Biliary Hemorrhage in Hereditary Hemorrhagic Telangiectasia.
Cureus
December 2024
Hepatology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, JPN.
This case report discusses the case of a 74-year-old man who was diagnosed with hereditary hemorrhagic telangiectasia (HHT). The patient initially presented with right upper quadrant abdominal pain and was later diagnosed with cholangitis. Subsequently, heart failure was identified due to hepatic arteriovenous malformations.
View Article and Find Full Text PDFCholestasis due to biliary obstruction can cause cardiogenic shock with bradycardia by delaying the elimination of arotinolol.
BMJ Case Rep
January 2025
Critical Care Medicine, Metropolitan Bokutoh Hospital, Tokyo, Japan.
Cardiogenic shock with bradycardia due to beta-blockers is well-documented; however, this condition in association with arotinolol is unreported. We present a case of cardiogenic shock resulting from delayed arotinolol clearance caused by bile duct obstruction. A man in his 60s presented to our hospital with jaundice.
View Article and Find Full Text PDFCraniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.
Neurosurg Focus
January 2025
1Department of Pediatric Neurosurgery, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris.
Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume.
View Article and Find Full Text PDFDelineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.
Mol Genet Genomic Med
January 2025
Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Background: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance.
Methods: Patients were investigated by performing a cytogenetic analysis of GTG-banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES.
Preduodenal portal vein (PDPV) is a rare congenital vascular malformation, which was first described by Knight in 1921 as an anomalous vein that lies in front of the duodenum, common bile duct, and hepatic artery instead of beneath them. This abnormal position may result in congenital duodenal obstruction and puts it in danger during operations around this region. PDPV is typically associated with other congenital anomalies, mainly intraabdominal and cardiac ones.
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