Spatial and temporal expression of the cystathionine beta-synthase gene during early human development.

We report the cystathionine-beta synthase (CBS) gene expression pattern during early human embryogenesis (3 to 6 weeks post conception) by in situ hybridization and in fetal and adult tissue by Northern Blot analysis. Probes were chosen to recognize either the common sequence to all known CBS mRNAs or the sequences of two different major exons 1 issued of we have previously identified. We demonstrate by in situ hybridization that CBS is continuously expressed from the earliest stages studied (22 days post conception) during embryogenesis in the tissues of developing embryos which will after birth present clinical abnormalities in homocystinuria patients.

[Homocysteine, 5,10-methylenetetrahydrofolate reductase and deep venous thrombosis. Survey of 120 patients in internal medicine].

Background: In the last few years, the association of deep vein thrombosis with frequent biological risk factors and genetic polymorphisms has significantly modified the field of venous thrombosis. In this study, we measured plasma homocysteine levels and tested the C677T methylenetetrahydrofolate reductase (MTHFR) mutation.

Patients And Methods: Plasma homocysteine levels and test for C677T MTHFR mutation were performed in 120 consecutive patients with objectively diagnosed deep vein thrombosis, and in 120 controls.

Induction of endothelial cell adhesion molecules by serum and immunoglobulins G from a patient with vasculitis and monoclonal gammapathy: potential relevance to vasculitis.

Interactions between endothelial cell adhesion molecules and their beta2 integrin adhesive receptors on leukocytes are thought to play a role in the pathogenesis of inflammatory diseases and probably vasculitis. We describe a case in whom leukocytoclastic vasculitis was associated to a monoclonal immunoglobulin G2 kappa (IgG2K). During the vasculitic crisis, the patient's serum and the isolated IgG from this serum induced the expression of E-selectin, VCAM-1 and ICAM-1 at the HUVEC surface, but not tissue factor activity, whereas normal, control serum and patient serum at remission were without any effect.

[Case control studies of the risk factors for deep-vein thrombosis in an adult population hospitalized in internal medicine].

Background: The ain of this study was to demonstrate risk factors for deep-vein thrombosis in adults in a hospital setting.

Materials And Methods: From May 1993 to Februrary 1995, 233 patients hospitalized in the internal medicine unit at the Montpellier University Hospital for deep-vein thrombosis were included. Each case was matched to a control case for age, hospitalization unit, and use or not of anti-thrombosis prophylaxy.

A woman with five consecutive fetal deaths: case report and retrospective analysis of hyperhomocysteinemia prevalence in 100 consecutive women with recurrent miscarriages.

Objective: To evaluate the medical relevance of hyperhomocysteinemia in women with primary recurrent miscarriages.

Design: Case report and retrospective cross-sectional study.

Setting: Hematology outpatient department of a university hospital.

Effects of homocysteine on acetylcholine- and adenosine-induced vasodilatation of pancreatic vascular bed in rats.

1. Epidemiological and experimental data have shown that homocysteine may provoke vascular lesions and that moderate homocysteinaemia may constitute an independent risk factor for vascular disease. It is now documented that homocysteine damages human endothelial cells in culture, possibly by producing hydrogen peroxide in an oxygen-dependent reaction.

Diagnosis of acute lower limb deep venous thrombosis with ultrasound: trends and controversies.

Acute deep venous thrombosis of the lower limb is a common and threatening condition whose clinical diagnosis is known to be unreliable. Sonography has gradually superseded venography as the primary diagnostic procedure. A review of the medical literature shows that sonography offers a high level of sensitivity and specificity in symptomatic patients but suffers from a lack of sensitivity at the calf level and in asymptomatic patients.

[New causes of inherited thrombophilia].

Activated protein C resistance is the most frequent cause of thrombophilia. It is found in 20% of patients with an episode of deep vein thrombosis (DVT) and its prevalence in caucasian population is between 3-7%. Activated protein C resistance is secondary to an Arg 506 to Gln mutation of factor V (factor V Leiden).

[Rheology and occlusive arterial disease of the legs].

Peripheral occlusive arterial disease (P.O.A.

Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.

Cystic fibrosis (CF), the most common lethal genetic disease in the Caucasian population, is caused by mutations in the CF transmembrane conductance regulator gene (CFTR). More than 500 molecular defects have been reported to date. The distribution of these mutations is both heterogeneous and population related.

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation, delta F508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequences of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of italian origin.

A prospective epidemiological study on the occurrence of antiphospholipid antibody: the Montpellier Antiphospholipid (MAP) Study.

The objective of this study was to determine the prevalence and clinical significance of elevated antiphospholipid antibodies (APA) in a large series of patients admitted to a department of Internal Medicine. At the end of entry phase, 1014 patients were tested (488 males-526 females, mean age: 66.7 years, range 18-97).

Association of 1078 del T cystic fibrosis mutation with severe disease.

Apart from the high frequency of the delta F508 mutation (81.81%) in Breton cystic fibrosis chromosomes, one mutation, 1078 del T, is also observed frequently (4.96%) in this group, in comparison with the rest of the French where it occurs with a frequency of 0.

[History of the treatment of varices].

Diseases of the vein and particularly varicose veins have been recognized since antiquity. The Ebers papyrus, dated 1550 b.c.