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Article Synopsis
  • Wilson's disease (WD) is a genetic disorder caused by mutations in the ATP7B gene, leading to harmful copper accumulation in various organs and potentially causing organ failure.
  • A case study of a 15-year-old boy highlights how undiagnosed and untreated WD resulted in severe liver damage and various complications, ultimately leading to his death.
  • Genetic testing confirmed the diagnosis of WD and revealed that he had a homozygous H1069Q mutation, supporting the clinical findings from his autopsy.
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Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities are the three clinical characteristics of the rare inherited bone marrow failure syndrome (IBMFS), known as Shwachman-Diamond syndrome (SDS). Cirrhosis at a neonatal age is uncommon and is typically not documented, as in neonatal presentation. Here, we present a case of SDS in which bi-cytopenia with macro-nodular cirrhosis emerged before the age of one month.

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In recent years, nonalcoholic fatty liver disease (NAFLD) incidence has rapidly increased, and it is gradually becoming a major contributor to liver cirrhosis and hepatocellular cancer (HCC). The degree of liver fibrosis, diabetes mellitus (DM), obesity, age, and gender are the main risk factors for nonalcoholic steatohepatitis (NASH) progression to HCC. Patients with NASH-related HCC are predominantly male, and almost all of them have at least one metabolic disorder (obesity, DM, dyslipidemia, hypertension, etc.

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Background: Hereditary tyrosinemia type 1 is a rare metabolic condition associated with an increased risk of hepatocellular carcinoma. Nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione, NTBC) treatment has reduced but not eliminated the risk. The delayed initiation of nitisinone treatment, and persistently abnormal α1-fetoprotein (AFP) levels are recognized to be risk factors for late-onset hepatocellular carcinoma.

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Application of Indocyanine Green Fluorescence as an Adjuvant to Laparoscopic Ultrasound in Minimally Invasive Liver Resection.

J Laparoendosc Adv Surg Tech A

May 2021

Unit of HepatoBilioPancreatic and Digestive Surgery, Department of Health Sciences, San Paolo Hospital, University of Milan, Milan, Italy.

Indocyanine green (ICG) fluorescence imaging has been extensively used in a variety of applications in visceral surgery. In minimally invasive liver resections, the detection of small superficial hepatic lesions using an intravenous injection of ICG before surgery represents a promising application. We analyzed 18 consecutive patients who underwent laparoscopic liver resection for superficial malignant tumors, namely 11 patients with hepatocellular carcinoma (HCC), 5 patients with colorectal liver metastases (CRLM), 1 patient with intrahepatic cholangiocarcinoma (ICC), and 1 patient with thyroid cancer metastasis, using ICG fluorescence as an adjuvant tool to intraoperative laparoscopic ultrasound (LUS).

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