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We investigated the feasibility of using serum alpha-fetoprotein (AFP) levels as a screening test for prenatal diagnosis of Fanconi anemia (FA). Serial measurements in maternal serum were recorded. Parents, both heterozygous for FA, had declined prenatal molecular testing. The infant was born with no somatic abnormalities, and FA was confirmed by postnatal molecular analysis. Maternal serum AFP levels during each trimester of pregnancy were normal indicating that these levels cannot be used as a screening test in prenatal diagnosis. Three-year follow-up after birth showed constantly elevated serum levels in the patient from the start, suggesting a lack of postnatal inhibition on AFP gene.

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ÖzObjective: We aimed to evaluate the recognition level of bladder cancer in the society by conducting a survey with regards to social awareness in early diagnosis of bladder cancer in this study. Materials and Methods: The survey was conducted on 100 randomly selected patients who were admitted to our clinic in May 2016 for any complaints. In the survey, the main focus was hematuria which is the first and the most common symptom of bladder cancer and questions and statements on this subject was used. Results: Of 100 patients, 67 (66.7%) were male, and 33 (33.3%) were female. Thirty six of the patients were younger than 50 (36%), and 64 of them (64%) were 50 years and older. Education level of 40 (40%) patients was found to be university level, and 60 (60%) patients we high school graduates or lower. Twenty seven (27%) patients had complains about blood in the urine, while 67 (67%) of them had no such complaint. Of 27 patients that had complaint about hematuria, which is the most important symptom of bladder cancer 22 (81%) were male and 5 (19%) were female. We divided the patients into two groups based on 50 age limit. Group 1 included patients who were below 50, while the group 2 consisted of patients who were 50 years old and above. The rates of immediate consultation were determined to be significantly higher in group 2 than group 1. The rate of consulting urology department in the presence of hematuria, and the rates of considering the risk of bladder cancer as a possible diagnosis were higher in group 2, but the difference was not statistically significant. There was no significant difference found between the two groups who were separated by age in terms of required diagnostic tests. The patients were divided into two more groups based on their education level. Group 3 included patients of university graduates, and group 4 included patients with high school graduates or lower. The rates of immediate consultation were significantly higher in group 4. In the event of hematuria, there was no significant difference between the two groups in terms of consulting urology department, considering the risk of bladder cancer as a possible diagnosis, or required diagnostic tests. Amaç:Bu çalışmada mesane kanserinin erken tanısında toplumsal farkındalık açısından yapılan anketle toplumda mesane kanseri bilinirlik düzeyini değerlendirmeyi amaçladık. Gereç ve Yöntem: Kliniğimize Mayıs 2016'da herhangi bir şikayet ile başvurmuş rastgele seçilen 100 hastaya anket çalışması yapılmıştır. Ankette mesane tümörünün ilk ve en sık semptomu olan hematüri üzerinde durulmuş ve bu konuda sorular ve önermeler kullanılmıştır. Bulgular: Yüz hastanın 67'si (%66,7) erkek, 33'ü (%33,3) kadın hastaydı. Hastaların 36'sı (%36) 50 yaş altında, 64'ü (%64) 50 yaş ve üstüydü. Öğrenim düzeyi 40 (%40) hastada üniversite düzeyinde, 60 (%60) hastada lise ve altı olarak tespit edildi. Hastaların 27'sinde (%27) idrarda kanama şikayeti olmuş 67'sinde (%67) olmamıştı. Mesane kanserinin tanısında en önemli bulgu olan hematüri ile başvuran 27 has...