Presse Med
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The cause of chronic inflammatory bowel disease remains unknown. A genetic origin has been suggested by studies in twins. The gene or genes involved in Crohn's disease is probably situated on chromosome 16 and the genes involved in ulcerative colitis on chromosomes 2 and 7. It will undoubtedly take some time before the exact loci are precisely identified, but current research suggests that clinical applications are not far off.
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A HISTOPATHOLOGICAL DIAGNOSIS: Histiocytic cytophagic panniculitis is the specific skin finding in the reactive hemophagocytic syndrome. It is a feverish nodular eruption which accompanies the other clinical and biological features of the reactive hemophagocytic syndrome. Histopathologic changes are diagnostic and consist in a lobular panniculitis characterized by the presence of a histiocytic infiltration of the fat. Histiocytes are benign in appearance and show variable degree of phagocytosis.
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MAIN CLINICAL FEATURES: Xeroderma pigmentosum is a rare, recessive disorder clinically characterized by extreme photosensitivity, pigmented abnormalities of the skin-exposed areas, and frequent ocular and neurological abnormalities. Xeroderma pigmentosum syndrome is associated with an estimated 2000-fold increase in the risk to develop skin cancer (basal cell carcinoma, squamous cell carcinoma and melanoma).
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Genetic epidemiology and position cloning techniques have made it possible to estimate the risk women with a family history of breast cancer have of developing a breast tumor. THREE PREDISPOSITION GENES: Three BReast CAncer genes (BRCA1, BRCA2 and BRCA3) have been localized on chromosomes 17 13 and 8. It is highly likely that other genes also have an influence. ⋯ Inversely, the risk of breast cancer is high if the mutation is detected, raising the difficult problem of counselling, particularly in young subjects. PROBLEMS RELATED TO SCREENING TESTS: Screening tests can only be undertaken if the "candidate" is aware of the consequences of the screening results and has had enough time to make a fully informed decision. Confidentiality must be particularly strict, particularly in the field of employment and insurance.
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Informed consent in medical or human experimentation is a concept generally accepted by most doctors. The foundation of informed consent is self-determination and, in the legal setting of France, contractual agreement. ⋯ In order to find a solution to these problems, the field of action of informed consent must be widened. We propose here to define informed consent as one of many means to defend patient dignity and human rights.