Turk J Med Sci
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Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The study aims to evaluate the demographic data, indications, and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center. ⋯ These data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies.
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In prostate cancer, extraprostatic extension (EPE) is an unfavorable prognostic factor, and the grade of EPE is correlated with the prognosis. This study aims to evaluate the utility of length of capsular contact (LCC ) in predicting the grade of EPE by correlating the measurements from MRI images and the measurements performed from radical prostatectomy specimens. ⋯ Consistent LCC estimates can be obtained from MR images providing a beneficial metric for detecting the existence of EPE and for discriminating the grades of EPE.
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Peritonitis attacks of Familial Mediterranean Fever (FMF) usually requires emergency medical admissions and it’s hard to distinguish a typical abdominal attack from surgical causes of acute abdomen. Therefore, history of abdominal surgery, particularly appendectomy, is very common in patients with FMF. However, history of appendectomy might also give some clues about the course of FMF in the adulthood. This study was to determine whether the history of appendectomy help to anticipate disease course of FMF in the adulthood. ⋯ Appendectomy history is common in FMF patients and associated with frequent serositis attacks in adulthood. These patients require higher colchicine doses with a lower rate of response and more need for Interleukin-1 antagonist therapies.
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Familial Mediterranean fever (FMF) is a genetically recessive autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene. The aim of this study was to investigate the frequencies of the most common MEFV mutations among a sample of healthy individuals from the Havsa population of European Turkey, where FMF is less prevalent compared to Asian Turkey. ⋯ These data suggest that the positivity of the MEFV gene mutation tests have lower predictive value in a population with low FMF prevalence.
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This study aimed to determine the frequency of relapse, the risk factors for relapse, and the correlation of relapse with immunosuppressive regimens in patients with granulomatosis polyangiitis (GPA). ⋯ An increased risk of relapse was observed in patients who had cavitary lung lesions and in those who had elevated serum creatinine levels. The combined use of RTX and CYC for the remission therapy in GPA reduced the relapse rates compared with the use of CYC alone.