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Metachronous Pancreatic Cancer with Pancreaticobiliary Maljunction Diagnosed Five Years after Cholecystectomy for Gallbladder Cancer, in Which Follow-up Imaging was Possible Until the Onset of Cancer: A Case Report and Review of the Literature.
Intern Med
January 2025
Department of Gastroenterology, Kanazawa University Hospital, Japan.
Whether or not pancreaticobiliary maljunction (PBM) is a risk factor for pancreatic cancer (PC) is unclear. We present a case of metachronous PC with PBM diagnosed after cholecystectomy for gallbladder cancer, in which follow-up imaging was possible until PC onset. A 63-year-old man who had been diagnosed with gallbladder cancer and had undergone cholecystectomy 5 years earlier developed pancreatitis.
View Article and Find Full Text PDFLaparoscopic cholecystectomy for triple gallbladder malformation: A comprehensive case report and literature review.
Medicine (Baltimore)
January 2025
Hepatobiliary Surgery, Hepatobiliary Disease Laboratory, Kailuan General Hospital, Tangshan, Hebei Province, China.
Rationale: Triple gallbladder is a rare congenital anatomical abnormality because of the incomplete regression of rudimentary bile ducts and is often not found until it is accidentally detected during imaging research.
Patient Concerns: We report a rare case of triple gallbladder malformation and review the English literature on biliary tract variation caused by gallbladder malformation. The diagnosis, treatment, and postoperative situation of the patients were summarized and analyzed.
Coexistence of adenomyomatosis in a left-sided gallbladder: a case report.
Int J Emerg Med
January 2025
Department of general surgry, Faculty of medicine, Misr university for science and technology, Giza, Egypt.
Introduction: The coexistence of gallbladder (LSG) and adenomyomatosis (ADM) is extremely uncommon presenting a novel clinical dilemma that has not been previously documented. LSG refers to a anomaly where the gallbladder is situated to the left of the round ligament deviating from its usual position. This anomaly is rare, with reported occurrences ranging between 0.
View Article and Find Full Text PDFIdentification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.
Psychiatr Genet
February 2025
Department of Obstetrics.
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, we aimed to describe the clinical manifestations and genetic analyses of two cases with RSTS.
View Article and Find Full Text PDFAn animal model recapitulates human hepatic diseases associated with mutations.
Proc Natl Acad Sci U S A
January 2025
Key Laboratory of Freshwater Fish Reproduction and Development, Ministry of Education, State Key Laboratory Breeding Base of Eco-Environments and Bio-Resources of the Three Gorges Reservoir Region, School of Life Sciences, Southwest University, Chongqing 400715, China.
Heterozygotic mutations are responsible for various congenital diseases in the heart, pancreas, liver, and other organs in humans. However, there is lack of an animal that can comprehensively model these diseases since GATA6 is essential for early embryogenesis. Here, we report the establishment of a knockout zebrafish which recapitulates most of the symptoms in patients with mutations, including cardiac outflow tract defects, pancreatic hypoplasia/agenesis, gallbladder agenesis, and various liver diseases.
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