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Idiopathic Vanishing Bile Duct Syndrome in a Young Female: A Case Report.
Korean J Gastroenterol
December 2024
Department of Internal Medicine, Pusan National University College of Medicine, Yangsan, Korea.
Vanishing bile duct syndrome (VBDS) is characterized by the progressive loss and destruction of the intrahepatic bile ducts, leading to bile stasis and associated symptoms such as jaundice. This condition is commonly associated with drug side effects, infections, neoplasms, and autoimmune diseases, but the precise mechanism of its development is unclear. Although VBDS can be diagnosed based on the patient's symptoms and disease progression, a liver biopsy is essential for confirmation, and the prognosis can vary significantly.
View Article and Find Full Text PDFLiver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome.
Orphanet J Rare Dis
December 2024
The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China.
Mitochondrial transcription factor A (TFAM) deficiency may cause mtDNA depletion syndrome, which manifests as neonatal liver failure or primary ovarian insufficiency, hearing loss, seizures, and intellectual disability. Treatment focusing on symptomatic management, and the clinical prognosis remains poor. Here, we describe a novel case of TFAM mutation presenting with progressive neonatal cholestasis, hypoglycemia and abnormal amino acid profiling.
View Article and Find Full Text PDFMulti-organ Failure in a Patient With Chronic Ketamine Use: A Case Report.
Cureus
November 2024
Diabetes and Endocrinology, United Lincolnshire Hospitals NHS Trust, Lincolnshire, GBR.
Ketamine is increasingly used as a recreational drug. The report outlines the various multi-organ dysfunctions identified following chronic abuse in a 24-year-old patient with no significant past medical history and the subsequent patient management. Besides ketamine cessation, other treatments only provide suboptimal relief to the damage inflicted by the toxic ketamine metabolites.
View Article and Find Full Text PDFChallenges in Diagnosing Hepatic Sarcoidosis: A Case Report.
Cureus
November 2024
Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, MAR.
Hepatic sarcoidosis is rare, and its similarity to liver metastases complicates the diagnosis. This mimicry requires a thorough diagnostic investigations to exclude neoplasia and other granulomatous diseases, particularly tuberculosis. A 36-year-old male presented with a two-month history of right hypochondrial tenderness, anorexia, asthenia, and weight loss.
View Article and Find Full Text PDFA Novel Compound Heterozygous Mutation in Progressive Familial Intrahepatic Cholestasis (PFIC) 4: A Rare Case Report With Literature Review.
Cureus
November 2024
Department of Gastroenterology, Topiwala National Medical College & BYL Nair Charitable Hospital, Mumbai, IND.
A 12-year-old female, resident of western India, presented with a history of pruritus associated with jaundice for two months. On presentation, she had icterus with mild palpable hepatomegaly. Investigations revealed direct hyperbilirubinemia and elevated transaminases, while gamma-glutamyl transferase levels were normal.
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