hepatolenticular degeneration/obesity

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[The new aspects of clinical nutrition at Wilson disease: actuality and perspectives].

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Wilson disease is hereditary disorder of copper metabolism, based on defect of cooper excretion, which leads to accumulation of cooper in the liver and brain. This disease is one of the most difficult to diagnose. Without treatment disease brings to early disability and lethal outcome. In the

Retrospective analysis of long-term outcome 10 years after liver transplantation for Wilson disease: experience over three decades.

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We evaluated long-term outcomes for patients with Wilson disease (WD) after liver transplantation (LT) and searched for risk factors of poor survival.Retrospective analysis of UNOS/OPTN data identified 156 pediatric and 515 adult cases of LT for WD between

Targeted inactivation of copper transporter Atp7b in hepatocytes causes liver steatosis and obesity in mice.

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Copper-transporting ATPase 2 (ATP7B) is essential for mammalian copper homeostasis. Mutations in ATP7B result in copper accumulation, especially in the liver, and cause Wilson disease (WD). The major role of hepatocytes in WD pathology is firmly established. It is less certain whether the excess Cu

The role of insufficient copper in lipid synthesis and fatty-liver disease.

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The essential transition metal copper is important in lipid metabolism, redox balance, iron mobilization, and many other critical processes in eukaryotic organisms. Genetic diseases where copper homeostasis is disrupted, including Menkes disease and Wilson disease, indicate the importance of copper

[Liver diseases].

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Hepatic encephalopathy is frequently accompanied by reversible cognitive impairment, while chronic acquired hepatocerebral degeneration is a rare irreversible neurological disorder in patients with liver cirrhosis, characterized by parkinsonism and cognitive decline. Patients with Wilson disease can

[Rare, but important chronic liver diseases].

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The presence of steatosis and inflammatory infiltrate in liver biopsies is essential for the diagnosis of non-alcoholic steatohepatitis (NASH). These findings are similar to those with alcoholic liver disease. However, in the NASH-situation alcohol doesn't play an important role. Risk factors for

Nonalcoholic fatty liver disease in asymptomatic Brazilian adolescents.

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OBJECTIVE To evaluate the prevalence and clinical characteristics of Nonalcoholic fatty liver disease (NAFLD) among asymptomatic Brazilian adolescents. METHODS Transversal observational study included asymptomatic adolescents with central obesity from private and public schools in Salvador-Bahia,

Chemical activation of SAT1 corrects diet-induced metabolic syndrome.

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The pharmacological targeting of polyamine metabolism is currently under the spotlight for its potential in the prevention and treatment of several age-associated disorders. Here, we report the finding that triethylenetetramine dihydrochloride (TETA), a copper-chelator agent that can be safely

Hypertransaminasemia in childhood as a marker of genetic liver disorders.

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BACKGROUND The widespread use of routine biochemical assays has led to increased incidental findings of hypertransaminasemia. We aimed to evaluate the prevalence of different causes of raised aminotransferase levels in children referred to a university department of pediatrics. METHODS We

Non-alcoholic fatty liver disease in children.

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Non-alcoholic fatty liver disease is increasingly prevalent in children, together with obesity. Transaminases, tests for insulin resistance, ultrasonography and MRI are variably used as surrogates markers of steatosis. Other liver diseases, such as Wilson disease, should be excluded. A liver biopsy

["Diabetic" proliferative retinopathy and nodular glomerulosclerosis without diabetes mellitus].

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A 65-year-old woman of normal weight, hospitalized because of pleuritis, was found to have chronic renal failure (creatinine clearance 20 ml/min). Renal biopsy (light and electron-microscopy) revealed nodular glomerulosclerosis (Kimmerstiel-Wilson disease), described as a diabetes-specific renal

Nonalcoholic Fatty Liver Disease (NAFLD): Approach in the Adolescent Patient.

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Nonalcoholic fatty liver disease (NAFLD) is a spectrum of liver disease whose hallmark is the accumulation of large-droplet fat in hepatocytes. This metabolic disorder occurs mainly in overweight or obese individuals. The disease mechanism involves hyperinsulinemia and hepatic insulin resistance,

[Hepatocellular carcinoma: occurrence, risk factors, biomarkers].

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Hepatocellular carcinoma (HCC) is the third most common cause of cancer-related death worldwide. Primary hepatocellular carcinoma can be found most frequently (80-90 %) in patients with liver cirrhosis. The most frequent causes of liver cirrhosis are chronic hepatitis B and C virus infections and

Triethylenetetramine (trientine): a caloric restriction mimetic with a new mode of action

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Caloric restriction mimetics (CRMs) are nontoxic macroautophagy/autophagy enhancers that act through the stimulation of cytoplasmic protein deacetylation reactions. Thus far, three functional classes of CRMs have been described: inhibitors of acetyltransferases (such as spermidine), inhibitors of

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