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Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.
Pancreatology
December 2024
Department of Surgery, University of California Los Angeles, Los Angeles, CA, USA. Electronic address:
Background/objectives: Genetic variants in PRSS1 encoding human cationic trypsinogen are associated with hereditary pancreatitis. The clinically frequent variants exert their pathogenic effect by increasing intrapancreatic trypsin activity, while a distinct subset of variants causes disease via mutation-induced trypsinogen misfolding and endoplasmic reticulum (ER) stress. Here, we report a novel misfolding PRSS1 variant.
View Article and Find Full Text PDFDiagnosis of Hereditary Pancreatitis Following the Initial Acute Episode With Multiple Pseudocyst Complications.
Cureus
November 2024
Pediatrics, National Hospital Organization Fukuyama Medical Center, Fukuyama, JPN.
Hereditary pancreatitis (HP) is an unusual form of pancreatitis inherited as an autosomal dominant disorder. Patients typically present with recurrent acute pancreatitis-like symptoms that eventually progress to chronic pancreatitis, resulting in pancreatic exocrine insufficiency or diabetes mellitus, and a high risk of developing pancreatic cancer. As such, early diagnosis is crucial.
View Article and Find Full Text PDFEndoscopic innovations in diagnosis and management of pancreatic cancer: a narrative review and future directions.
Therap Adv Gastroenterol
December 2024
Department of Surgery and Interventional Gastroenterology, The University of Texas.
Pancreatic cancer serves as the third leading cause of cancer-associated morbidity and mortality in the United States, with a 5-year survival rate of only 12% with an expected increase in incidence and mortality in the coming years. Pancreatic ductal adenocarcinomas constitute most pancreatic malignancies. Certain genetic syndromes, including Lynch syndrome, hereditary breast and ovarian cancer syndrome, hereditary pancreatitis, familial adenomatous polyposis, Peutz-Jeghers syndrome, familial pancreatic cancer mutation, and ataxia telangiectasia, confer a significantly higher risk.
View Article and Find Full Text PDFTrypsin in pancreatitis: The culprit, a mediator, or epiphenomenon?
World J Gastroenterol
November 2024
Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90073, United States.
Pancreatitis is a common, life-threatening inflammatory disease of the exocrine pancreas. Its pathogenesis remains obscure, and no specific or effective treatment is available. Gallstones and alcohol excess are major etiologies of pancreatitis; in a small portion of patients the disease is hereditary.
View Article and Find Full Text PDFPuestow surgery in a SPINK mutation chronic pancreatitis: a rare case report.
J Surg Case Rep
October 2024
Department of General Surgery, Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil.
Article Synopsis
- - A 27-year-old man with recurrent pancreatitis was found to have a rare genetic mutation (homozygous SPINK1 N34S) after multiple hospitalizations and diagnostic testing.
- - After unsuccessful endoscopic treatments, he underwent a laparoscopic Puestow procedure to improve his symptoms and pancreatic drainage.
- - His recovery was successful, and he was discharged with enzyme therapy, highlighting the complexities of diagnosing and managing hereditary pancreatitis linked to genetic factors.
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