Evaluation of steatohepatitis, body composition and metabolic profile of three patients with Berardinelli-Seip syndrome
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چکیده
منابع مشابه
Evaluation of steatohepatitis, body composition and metabolic profile of three patients with Berardinelli-Seip syndrome
Results Patients 1 and 3 were diagnosed late, by the age of 54 and 43 yrs. respectively. While the second patient was diagnosed earlier at 17th and follows 14 yrs. in treatment. All patients have low body fat on DEXA (Figure 1) and moderate steatosis, but only the Patient 2 has no fibrosis. The patients’ metabolic profile after the treatment is exposed at Table 1. All patients are in use, at le...
متن کامل[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
OBJECTIVE To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP. SUBJECTS AND METHODS Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed. RESULTS Lep...
متن کاملA case of Berardinelli-Seip syndrome presenting with cirrhosis.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentatio...
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ژورنال
عنوان ژورنال: Diabetology & Metabolic Syndrome
سال: 2015
ISSN: 1758-5996
DOI: 10.1186/1758-5996-7-s1-a102