Role of CYP2D6 polymorphism in predicting liver fibrosis progression rate in Caucasian patients with chronic hepatitis C.

Objective: Previous studies have demonstrated that CYP2D6 polymorphism is associated with liver cirrhosis. The aim of the present study was to find out whether CYP2D6*4, the poor metabolizer allele can predict fibrosis progression rate.

Methods: Seventy-five Caucasian patients with chronic hepatitis C infection were recruited.

Apolipoprotein-E genotype and the risk of developing cholelithiasis following bariatric surgery: a clue to prevention of routine prophylactic cholecystectomy.

Background: Obesity and especially rapid weight loss following bariatric surgery are known risk factors for cholelithiasis. Since the risk may be high, prophylactic cholecystectomy has been advocated. Apolipoprotein (Apo) E, an important carrier protein in cholesterol metabolism and trafficking, is believed to play a role in gallstone pathogenesis.

Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.

The multiple endocrine neoplasia type 2 (MEN2) syndromes and Hirschsprung's disease (HSCR) are inherited neurocristopathies characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid disease, and gastrointestinal neuromatosis. Mutations in the RET proto-oncogene are the underlying cause of the MEN2 syndromes and some cases of HSCR. In this report, we show that Cys 618 Arg mutation cosegregates with familial MTC and HSCR in two Moroccan Jewish families in which no involvement of pheochromocytoma or parathyroidism was observed.

Changes of muscarinic cholinergic binding by lymphocytes in Parkinson's disease with and without dementia.

We compared the muscarinic cholinergic binding in lymphocytes of 44 patients with idiopathic Parkinson's disease with 23 age-matched normal volunteers, using [3H]quinuclidinyl benzilate. In 24 patients with Parkinson's disease without dementia, binding was normal in 12, below control values in 6, whereas the remaining 6 (all on anticholinergic medication) showed very high binding. In all 20 patients with Parkinson's disease and with dementia, the binding was below control levels, indicating that in these patients, as in patients with Alzheimer's dementia, the cholinergic muscarinic binding by lymphocytes is reduced.