A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.

Context: Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by the development of benign cartilage-capped tumors at the juxta-epiphyseal regions of long bones. HME is usually caused by mutations of EXT1 or EXT2.

Objective: The objective of this study was to investigate a three-generation Austrian kindred with HME for EXT1 and EXT2 mutations and for abnormalities of bone mineral density (BMD).

[Beneficial effect of the ACE inhibitor captopril in normotensive patients with insulin-dependent diabetes].

The increase of glomerular filtration can often be observed in patients with insulin dependent diabetes mellitus, even in the early stage of the disease and it does not require the presence of microalbuminuria. This phenomenon can be explained by vasoconstriction occurring in the efferent arterioles. Eighteen normotensive, diabetic patients (aged: 28-42) who developed increased glomerular filtration were recruited in this study.

Hungarian Isradipine Study (HIS): long-term (3-year) effects on blood pressure and plasma lipids.

These are the preliminary data of an open multicenter trial of antihypertensive treatment with isradipine as monotherapy (dose, 4.55 +/- 0.56 mg twice daily; n = 11) or isradipine (7.

[Testing the acid-binding capacity of Tisacid suspension and tablets by intragastric pH determination in patients with hyperacidity].

The effect of a Hungarian Al-Mg-containing drug, called Tisacid was studied using of 2.0, 1.0 and 0.

[Comparative clinical study of Neopanpur and Creon].

The aim of the study was to compare the clinical efficacy of Neopanpur (EGIS) and Creon (Kalichemie) in patients with chronic pancreatitis. Fifteen patients were examined for 2 x 10 days. A period: Neopanpur 3 x 2, B period: Creon 10,000 3 x 2.