Tehran University Medical Journal

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Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 Background: Breast cancer is the most common form of hereditary cancer worldwide and is an important cause of morbidity and mortality. Approximately 5-10% of breast and ovarian cancers are due to the highly penetrating germline mutations in cancer predisposing genes. Two genes, BRCA1 and BRCA2, account for at least half of these cases. The demand for BRCA1 and BRCA2 mutation screening is rapidly increasing as their identification will affect the medical management of people at increased risk for the disease. Therefore, the aim of this study was to investigate BRCA1/2 mutations in 100 high risk Iranian families.
Methods:  One hundred families who met the minimal risk factors for breast/ovarian cancer were screened among the families referred to Kawsar Human Genetics Research Center for the diseases in 2009-2011. The entire coding sequences and each intron/exon boundaries of BRCA1/2 genes were screened for by direct sequencing and MLPA in both patients and the controls.
Results:  In the present study, we could detect the following novel mutations: p.Gly1140Ser, p.Ile26Val, p.Leu1418X, p.Glu23Gln, p.Leu3X, p.Asn1403His, p.Asn1403Asp, p.Lys581X, p.Pro938Arg, p.Thr77Arg, p.Leu6Val, p.Arg7Cys, p.Leu15Ile, p.Ser177Thr, IVS7+83(-TT), IVS8 -70(-CATT), IVS2+9(G>C), IVS1-20(G>A), IVS1-8(A>G), p.Met1Ile, IVS2+24(A>G), IVS5-8 (A>G), IVS2(35-39)TTcctatGAT, IVS13+9 G>C in BRCA1 and p.Glu1391Gly, p. Val1852Ile, IVS6-70(T>G), 1994-1995 (InsA) in BRCA2.
Conclusion: Ten mutations seemed to be pathogenic and the disease-causing mutations were seen in 16% of the families. In addition, from the total number of substitutions and reassortments (42), 80% related to BRCA1 and 20% to mutations in BRCA2 genes.

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Background: Nocardia species are Gram-positive, partially acid fast, non-motile, catalase positive, aerobic and saprophytic actinomycetes found all around the world. They invade the human body from the environment via trauma and respiratory tract and cause cutaneous, pulmonary and systemic diseases. They are able to grow in various media.The organisms opportunistically infect both immunocompromised and immunocompetent individuals. Behcet's disease is an autoimmune disease and immunocompromised patient which may suitable host for Nocardia bacterium. The present study is the first case report of isolation of Nocardia from the thigh abscess in a patient with behcet’s disease from Iran.
Case Presentation: A 39-year-old man with Behcet’s disease in August 2011 was admitted to Shariati hospital Tehran, with swelling and pain in the left flank and left thigh. Microscopic identification from direct microbiological slide of thigh abscess discharge demonstrated number of lymphocytes, neutrophils and macrophages foamy and white blood cells together with filamentous bacteria. Further microbiological characterization using phenotypic and antibiogram tests with disk diffusion method, demonstrated that the isolated bacterium is Nocardia asteroides complex. The bacteria were sensitive to ampicillin, vancomycin, ceftriaxone, amikacin and cotrimoxazole but it was resistant to clindamycin, erythromycin, penicillin G, cephalothin and gentamicin. The patient was treated with cotrimoxazole.
Conclusion: Because of the high incidence and high mortality of Nocardia infection in immunocompromised cases, rapid detection and timely treatment for these patients is necessary.