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Biomedical subjects

L Swiader

Publications and source records attributed to L Swiader.

At least 19 recordsLinked to original sources

[Heterozygous prothrombin gene mutation G20210A and associated diseases].

PURPOSE: Prothrombin gene mutation G20210A (factor II) is, in frequency, the second genetic polymorphism involved in venous thrombosis. We report a retrospective studies on 38 patients issued from our medical department, all heterozygous for the factor II mutation and a literature review. METHODS: We have studied 38 patients, all heterozygous for the factor II mutation, selected through a population of 516 tested patients issued from our medical department from 1997 to 2002. The research was performed face with history of thrombotic or obstetrical events, angiopathy or familial screening. RESULTS: Twenty out of thirty-eight patients have at least one episode of venous thrombosis: superficial thromboses, deep thromboses and/or pulmonary embolism. One case of cerebral thrombophlebitis is observed. Venous thrombotic risk factors are associated in 12 cases (60%). Four out of thirty-eight patients have one episode of arterial thrombosis: cardiovascular, peripheral or cerebral. Arterial thrombotic risk factors are associated in all cases. Median age of the first venous thrombosis is earlier than the one of arterial thrombosis (39.11 versus 49.25 years). CONCLUSION: Our studies confirms the interest to search the prothrombin gene mutation when faced with a venous thrombotic event (deep vein thrombosis and/or pulmonary embolism) with or without acquired risk factors. Its involvement in thrombotic arterial disease is still a matter of debate. Data concerning its involvement in systemic diseases and angiopathies (thromboangeitis obliterans, Raynaud's phenomenon and migraine) are still needed. Mechanisms of thromboses could be an increase of prothrombin plasma level with high thrombin synthesis.

Adult↗

[Retrospective study of 55 patients with circulating blood T gama/delta lymphocytosis].

PURPOSE: Gamma/delta T lymphocytes constitute a singular population due to their particular antigenic recognition and their localization inside the epithelium. Their functions are complementary to those of the alpha/beta T-cells and they are involved in the defense and regulation of the immune system. Their role in human diseases is not very well understood and the aim of our study was to analyze a population of patients with a peripheral gamma/delta T-cell lymphocytosis. METHODS: The study included 55 patients, recruited from 1997 to 2000, with a peripheral gamma/delta T lymphocytosis (defined by a proportion of gamma/delta T-cells of over 10% of total peripheral T lymphocytes). Analysis of the lymphocyte population was obtained by cytometry after peripheral blood sampling. RESULTS: Three main groups of diseases were observed: infectious diseases (viral infections and tuberculosis), inflammatory diseases (sarcoidosis and autoimmune diseases) and blood diseases (monoclonal gammopathies and hemopathies). Persistence of gamma/delta T lymphocytosis was dependent on the underlying disease (transitional when associated with an infectious disease and lasting when associated with sarcoidosis). The rest of the immunophenotyping analysis was usually normal. CONCLUSION: Our results confirm the data published in the literature concerning the role of the gamma/delta T lymphocytes in infectious, inflammatory and autoimmune diseases and neoplasias. These data are in agreement with the cytotoxic and regular functions of these lymphocytes.

Adolescent↗

Sarcoidosis preceding chronic myelomonocytic leukemia. Report of two cases.

We report 2 patients who had sarcoidosis with skin involvement associated with bilateral anterior uveitis. During the follow-up, they developed chronic myelomonocytic leukemia. This association is of particular interest as sarcoidosis and chronic myelomonocytic leukemia may be considered as disorders of a common monocyte-macrophage cell lineage.

Antineoplastic Combined Chemotherapy Protocols↗

[Psychological and behavioral disorders with good outcome in neurosarcoidosis].

INTRODUCTION: Neurological involvement is observed in 5% of cases of sarcoidosis and includes impairment of the central nervous system, the meninges, and the cranial and peripheral nerves. Besides neurological defects, cognitive impairment may be encountered ranging from isolated memory defect to dementia. EXEGESIS: We report a case of neurosarcoidosis occurring in a 40-year-old woman, a native of Reunion Island, with initial meningeal and hypophyseal involvement. Three years later, while treated with low dose prednisolone and methotrexate, she presented a paranoid state associated with cognitive impairment of frontal type and severe behavioral disturbances. After 2 years of high dose steroid treatment associated with hydroxychloroquine, her behavioral status improved, allowing social and familial reinsertion. CONCLUSION: In our observation, sarcoidosis was revealed through a central neurological impairment, with chronic meningitis, facial nerve palsy, and, finally, through psychiatric symptoms and severe behavioral disturbances. A slow favorable outcome was obtained using high dose methylprednisolone and hydroxychloroquine with total regression of behavioral disturbances but with persisting cognitive alteration.

Adult↗

[Acute transitory intrafamilial erythroblastopenia and hereditary spherocytosis: role of parvovirus B19].

INTRODUCTION: Acute parvovirus B19 infection induces a transient inhibition of erythroid cell formation, which may induce an erythroblastopenia crisis in patients suffering from chronic hemolytic anemia. EXEGESIS: We report here an exceptional observation of acute erythroblastopenia crisis with good outcome, occurring at the same time in a mother and her son, both suffering from hereditary spherocytosis. Diagnosis of parvovirus infection is based on detection of serum parvovirus B19-specific immunoglobulin M antibodies in the mother and her son and by the positivity of parvovirus B19 DNA detected by PCR in serum in the mother. Outcome was good, with the end of the erythroblastopenia crisis obtained 7 to 10 days later, but requiring blood transfusion in the mother. CONCLUSION: Our observation is a reminder that the contagiosity of parvovirus B19 is high in household contacts and that protection of family members should rapidly be considered in hereditary spherocytosis.

Acute Disease↗

[Is chronic or recurrent idiopathic pericarditis an autonomous inflammatory disease?].

PURPOSE: Chronic pericarditis or recurrent pericarditis is mostly considered to be idiopathic even when up-to-date medical investigations are undertaken. The absence of aetiology and the associated inflammatory process are features of a common disease for internists. As there are only a few published reports on this disease, therapeutic options are not easily envisaged. CURRENT KNOWLEDGE AND KEY POINTS: Idiopathic pericarditis and its evolution, characterized by recurrence or chronicity, has long been diagnosed and studied. Faced with a case of acute pericarditis, no clinical or biological data can preclude evolution towards a chronic or a recurrent form. The two major complications are tamponade and constriction. Classical treatment is aspirin and nonsteroidal anti-inflammatories. Steroids have a spectacular effect but steroid dependence is frequently observed. Colchicine treatment seems to be efficacious and can be used to stop steroid therapy. There are only a few published reports on the importance of immunosuppressive drugs such as azathioprine and cyclophosphamide. FUTURE PROSPECTS AND PROJECTS: Through our own experience and literature review, we propose to consider chronic and/or recurrent pericarditis as an autonomous inflammatory disease of the pericardium. Thus, large-scale studies concerning the treatment should improve the outcome of patients.

Adrenal Cortex Hormones↗

Prelymphomatous presentation of T-cell non-Hodgkin lymphomas. A clinical and histopathological study of 11 cases.

We report a retrospective study of 11 patients suffering from T-cell non-Hodgkin lymphomas preceded by immunological disorders including two chronic granulomatous diseases, one midline granuloma, four autoimmune hematologic disorders, one hypereosinophilic syndrome, two chronic lymphadenopathies, and one chronic angioedema. In the follow-up of these 11 patients, T-cell non-Hodgkin lymphomas were diagnosed. Even if we cannot exclude a fortuitous association, we feel that these conditions could constitute a 'prelymphomatous' stage.

Journal Article↗