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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Henoch-Schonlein purpura is one of the most frequent systemic vasculitis in children. In adults, muscle involvement is extremely rare and not very well characterized. We report a case of Henoch-Schonlein purpura with severe skin and renal involvement in witch multiple intramuscular haematoma leaded to severe anaemia. Histological examination confirms the muscle localization of the disease. ⋯ Intramuscular haematomas are very uncommon in Henoch-Schonlein purpura. There are usually a consequence of muscular immune complex vasculitis. In our patient, high dose corticosteroid was not unable to control the disease.
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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.