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Objective: To investigate the presence of metabolic dysfunction-associated fatty liver disease (MAFLD) and gallbladder abnormalities in a sample of people with Down syndrome in Brazil.

Methods: This is a retrospective study using medical charts involving Down syndrome patients, diagnosed by karyotype, aged over 5 years, who underwent abdominal ultrasound and were monitored by the same professional in a clinic in Curitiba, Brazil. Data spanned January 1995 to September 2023; all cases with no use of alcohol or hepatotoxic medications.

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Recurrent acute pancreatitis (RAP) affects 15-36% of children with acute pancreatitis (AP) and may progress to chronicity. To determine the etiology and evolution of RAP, a descriptive retrospective cohort study was conducted in patients aged 1-18 years. Twelve patients with RAP were included out of 79 with AP, and demographic, etiological, clinical, analytical, and imaging data were collected.

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Current approach to diagnosis and management of low-phospholipid associated cholelithiasis syndrome.

Curr Opin Gastroenterol

January 2025

Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis, European Reference Network on Hepatological Diseases (ERN Rare-Liver), Saint-Antoine Hospital, Assistance Publique - Hôpitaux de Paris; Sorbonne University, INSERM, Saint-Antoine Research Center (CRSA).

Purpose Of Review: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare genetic form of intrahepatic cholesterol lithiasis, affecting mainly young adults. This review describes the recent advances in genetic and clinical characterization, diagnosis and management of LPAC syndrome.

Recent Findings: Recent publications report data from several retrospective cohorts.

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Bouveret's syndrome is a rare disorder that causes upper gastrointestinal obstruction, typically in elderly patients with a history of chronic cholelithiasis. We present an unusual case of a 58-year-old woman with untreated vesicular lithiasis who developed Bouveret's syndrome. She presented with severe abdominal pain, nausea, vomiting, and abdominal distension.

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