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Biomedical subjects

B Granel

Publications and source records attributed to B Granel.

At least 91 records · Page 5Linked to original sources

The A -844G polymorphism in the PAI-1 gene is associated with a higher risk of venous thrombosis in factor V Leiden carriers.

Identification of combined genetic factors in factor V Leiden carriers is important for a more accurate risk assessment for venous thrombosis (VT). Among these individuals, we evaluated the role of polymorphisms of the plasminogen activator inhibitor-1 (PAI-1) gene in the thrombophilic phenotype. A total of 382 factor V Leiden carriers were included in the study. This population was divided into 3 groups. Group 1 (n=168) included individuals with a personal history of VT; group 2 (n=140) included individuals without personal VT but with a familial history of VT; and group 3 (n=74) included individuals without VT and with a fortuitous discovery of the factor V Leiden mutation. We compared the genotype distribution of 2 polymorphisms, A -844G and -675 4G/5G, located in the promoter region of the PAI-1 gene among these 3 groups of individuals. The A -844G allele frequency differed significantly among the 3 groups (P=0.048), the A allele being more frequent in patients who suffered from VT (61%) than in subjects without VT (52%, P=0.015), whereas no difference was observed between the 2 groups of asymptomatic individuals. The prevalence of genotype AA carriers was higher in patients with VT (38%) than in asymptomatic individuals (21%, P=0. 015), leading to an odds ratio of 1.74 (95% confidence interval, 1.3 to 3.8). Carrying the AA genotype conferred a risk of deep VT of 2. 08 (95% confidence interval, 1.28 to 3.40), whereas it did not seem to significantly influence the risk of pulmonary embolism. Concerning the -675 4G/5G polymorphism, no significant difference was observed among the 3 groups, the 4G allele frequency being 0.54 (in group 1), 0.49 (in group 2), and 0.45 (in group 3). These data suggest a role for the -A844G PAI-1 gene polymorphism in the thrombophilic phenotype of factor V Leiden carriers.

Adolescent↗

Lupus cystitis: a possible additive risk factor for emphysematous cystitis in diabetes mellitus: discussion about one case.

Emphysematous cystitis (EC) is a rare condition in which gas-forming organisms are active in the bladder wall and lumen. Most of the cases have been described in patients suffering from diabetes mellitus due to glucosuria and subsequent anaerobic fermentation of glucose. To our knowledge this condition has never been described in association with systemic lupus erythematosus (SLE). We report here the first case of EC during the course of a chronic lupus cystitis (LC) in a woman suffering from SLE and type-I diabetes mellitus.

Anti-Bacterial Agents↗

Crossing of antinuclear antibodies and anti-leishmania antibodies.

Visceral leishmaniasis or Kala-azar is an endemic parasitic infection in Mediterranean countries. We report an interesting case occurring in a 38-year-old woman suffering from systemic lupus erythematosus and secondary antiphospholipid syndrome. In our patient visceral leishmaniasis occurred during high dose-steroids treatment mimicking a flare of lupus. As the lupus resolved under immunosuppressive treatment, a reactivation of visceral leishmaniasis was observed and was confirmed by the successive serological tests which showed crossing of leishmania and antinuclear antibody titers. Our case shows that, faced with fever occurring in lupus patients in an endemic area, visceral leishmaniasis should be searched for before intensifying immunosuppressive treatments.

Adult↗

"Coated aorta": a new sign of Erdheim-Chester disease.

Erdheim-Chester disease is a rare, non-Langerhans cell form of histiocytosis characterized by osteosclerosis of the metaphyseal regions of long bones, diabetes insipidus, proptosis, and retroperitoneal fibrosis. The latter usually involves the perirenal area and leads to hydronephrosis. Periaortic fibrosis is less frequent. We describe 3 unusual cases of Erdheim-Chester disease with periaortic fibrosis involving the whole aorta and leading to a "coated aorta" appearance on computed tomography scans. Faced with such a singular "coated aorta," bone scintigraphy can be very helpful when searching for Erdheim-Chester disease.

Aortitis↗

Chronic hepatitis C virus infection associated with a generalized granuloma annulare.

We report the first case of generalized granuloma annulare occurring in a 65-year-old woman who was chronically infected with hepatitis C virus. Granuloma annulare totally regressed during alpha-interferon treatment. As chronic hepatitis C virus infection is frequent, a serodiagnosis would be of interest in patients who have generalized granuloma annulare. A link between these 2 diseases may be strongly suspected.

Aged↗

[Thymoma and hypogammaglobulinemia. Good's syndrome: apropos of a case and review of the literature].

INTRODUCTION: Good's syndrome is defined as the association of thymoma, hypogammaglobulinemia, and repetitive bronchopulmonary infections. We report one case and review the clinical and immunological features of this syndrome. EXEGESIS: We describe the case of a 67-year-old man who presented with both severe bronchopulmonary infection resistant to antibiotherapy and thymoma. Definite diagnosis was based on the existence of hypogammaglobulinemia. Treatment with intravenous immunoglobulins led to positive outcome. CONCLUSION: Good's syndrome occurs in only 5% of parathymic diseases. To prevent further bronchial tube destruction and pulmonary surgery, it must be diagnosed and treated early.

Agammaglobulinemia↗

Asymptomatic intracardiac thrombi and primary antiphospholipid syndrome.

Intracardiac thrombi have rarely been reported in patients with the antiphospholipid syndrome. We describe a new case revealed by systematic echocardiography in an asymptomatic woman who consulted for mild thrombocytopenia. Our case is characterized by a past history of migraine, fetal loss and psychiatric disturbances and by a high level of antiphospholipid antibodies (anticardiolipin, anti-beta(2)-glycoprotein I and lupus anticoagulant). Echography, in the absence of any cardiovascular symptom, showed bulky right intra-atrial thrombi requiring surgical excision. Histopathological analysis revealed the fibrino-cruoric nature of the lesion without myxoma. This case shows that, when faced with a mild thrombocytopenia associated with antiphospholipid antibodies, echocardiography may reveal a life-threatening and completely asymptomatic intracardiac thrombosis.

Adult↗