Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Breast cancer risk factor analysis allows the identification of women at very high risk for the future development of breast cancer. Many of the known risk factors are either not modifiable or are not reasonably modifiable because of social implications or other potential health benefits (eg, those associated with hormone replacement therapy). Thus, effective strategies to decrease the risk of breast cancer are needed. The recent demonstration that the use of tamoxifen for 5 years decreases the future risk of breast cancer by approximately 49% provides the opportunity for a risk-reduction intervention. Women taking tamoxifen must be monitored for the occurrence of well-defined toxicities, including hot flashes and, more rarely, endometrial carcinoma, thromboembolic disease, and cataract formation. Strategies are available for the management of tamoxifen toxicity. In special circumstances, such as in carriers of BRCA1 or BRCA2 mutations, the risk of future breast cancer is very high, and the performance of a bilateral prophylactic mastectomy may be considered. Women considering bilateral prophylactic mastectomy should undergo multidisciplinary consultation so that they may make a fully informed decision. The panel strongly encourages patients and health care providers to participate in clinical trials to test new strategies for decreasing the risk of breast cancer. Only through the accumulated experience gained from well-designed, prospective clinical trials will additional advances in the reduction of breast cancer risk be realized.
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PMID:Breast Cancer Risk Reduction Clinical Practice Guidelines in Oncology. 1976 86

Moyamoya is a cerebrovascular angiopathy characterized by a progressive stenosis of the terminal part of the intracranial carotid arteries and the compensatory development of abnormal and fragile collateral vessels, also called moyamoya vessels, leading to ischemic and hemorrhagic stroke. Moyamoya angiopathy can either be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions, including neurofibromatosis, Down syndrome, TAAD (autosomal-dominant thoracic aortic aneurysm), and radiotherapy of head tumors (moyamoya syndromes). Its prevalence is ten times higher in Japan than in Europe, and an estimated 6%-12% of moyamoya disease is familial in Japan. The pathophysiological mechanisms of this condition remain obscure. Here, we report on three unrelated families affected with an X-linked moyamoya syndrome characterized by the association of a moyamoya angiopathy, short stature, and a stereotyped facial dysmorphism. Other symptoms include an hypergonadotropic hypogonadism, hypertension, dilated cardiomyopathy, premature coronary heart disease, premature hair graying, and early bilateral acquired cataract. We show that this syndromic moyamoya is caused by Xq28 deletions removing MTCP1/MTCP1NB and BRCC3. We also show that brcc3 morphant zebrafish display angiogenesis defects that are rescued by endothelium-specific expression of brcc3. Altogether, these data strongly suggest that BRCC3, a deubiquitinating enzyme that is part of the cellular BRCA1 and BRISC complexes, is an important player in angiogenesis and that BRCC3 loss-of-function mutations are associated with moyamoya angiopathy.
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PMID:Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. 2159 66