La Revue de médecine interne
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Review Comparative Study
[HNPCC syndrome (hereditary non polyposis colon cancer): identification and management].
The hereditary non-polyposis colon cancer (HNPCC) syndrome is an inherited condition defined by clinical and genealogical information, known as Amsterdam criteria. In about 70% of cases, HNPCC syndrome is caused by germline mutations in MMR genes, leading to microsatellite instability of tumor DNA (MSI phenotype). Patients affected by the disease are at high risk for colorectal and endometrial carcinomas, but also for other organs tumors. HNPCC syndrome is responsible for 5% of colorectal cancers. ⋯ The identification of germline MMR mutations has no major consequence on the cancer treatments, but influences markedly the long-term follow-up and the management of at-risk relatives. Gene carriers will enter a follow-up program regarding their colorectal and endometrial cancer risks; other organs being at low lifetime risk, no specific surveillance will be proposed.
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The diagnosis of retinal venous and arterial occlusions is usually easily evoked on visual symptoms and ophthalmoscopic features. However, their management (etiologic explorations and treatment) has not been formally established and remains controversial. ⋯ Along with a review of the literature, we suggest a practical approach for the management of retinal vascular occlusions, which requires a collaboration between the ophthalmologist and other physicians: general practitioner, cardiologist, internist... as appropriate according to each case.
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This article reviews the most current information about epidemiology, risk factors, diagnosis, prevention and management of male osteoporosis. ⋯ Further studies are needed to better estimate the benefit of of bisphophonates in the prevention of glucocorticoid-induced osteoporosis and the prevention of androgen-deprivation therapy (treatment of prostate cancer) in men at high-risk for osteoporosis, of parathyroid hormone (1-34) in male primary osteoporosis, and of androgen therapy in men with symptoms (including low bone mineral density) and biological signs (with low blood free testosterone levels) of hypogonadism.
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Review Comparative Study
[What place for DNA microarray in inflammatory diseases?].
DNA chip is a recently developed technique allowing analysis of thousands of genes at the same time in multiple biological samples. In few years it has become an obligatory step in massive gene expression study. The enormous quantity of results generated and the new way of thinking allowed make this kind of study a true revolution. ⋯ The optimal use of DNA microarrays will necessitate a powerful statistical analysis and an high quality biological experimentation. Strict standard and quality criteria are developing. Obviously, the DNA chips have a role to play in multifactorial inflammatory diseases mainly through their potential to bring new answers to diagnostic and pathophysiological problems. One potential development of the technique in such diseases will be the definition of disease specific gene profiles and the generation of chips allowing the detection of few targeted genes with all the known mutations of these genes. The correlation of global or targeted gene expression with clinical and pathological data will allow a new step forward in the understanding and taking care of inflammatory diseases.
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Thymus is the site of T-cell development and is essential for the induction of self-tolerance, by deletion of autoreactive T lymphocytes (negative selection) and by generation of regulatory T cells. Defect of the selection mechanism of both types of lymphocytes lead to autoimmune diseases. ⋯ Animal models show that regulatory T cells injection or intrathymic inoculation of antigen lead to immunological tolerance in autoimmunity and transplantation. These novel strategies could be used in human.