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Öğe Are there any genotoxic effects of laser epilation applications on human? an observational study(Mrs Deepika Charan, 2014) Ocak, Zeynep; Özlü, Tülay; Taşdemir, Şener; Bilen, Handan; Kocaman, Ertuğrul MevlütBackground: Laser epilation is a method of removal of unwanted hair from the body and its use for this cosmetic purpose is gaining increasing popularity. Sister chromatid exchange (SCE) is a critical method for determining genotoxicity caused by several mutagens and carcinogens under in vivo and in vitro conditions. Aims & Objective: In this study, we aimed to determine whether removal of unwanted hair by laser epilation causes genotoxicity in women undergoing this procedure. Materials and Methods: 40 voluntary women who admitted to the dermatology clinics for the removal of unwanted hair by laser epilation were included. Skin types of all patients were classified according to Fitzpatrick Scale. Laser epilation was applied by Alexandrite (Light Age Epicare Duo) at a 755 nm wavelength laser. The possible genotoxic effects in women who had laser epilation to the whole leg (upper and lower leg) and face was investigated by the SCE method. Results: The blood samples that were drawn before and 24 hours after the laser application showed no significant differences between the SCE frequencies (p>0.05). Conclusion: We could not find any significant genotoxic effect of laser epilation in women undergoing this procedure. As far as we know, this is the first study that investigates the relationship between laser applications and genotoxic effects.Öğe Dirençli epilepsi olgusunda mozaik ring kromozom 6 ve klinik önemi(2012) Ocak, Zeynep; Göksügür, Sevil Bilir; Kocaman, Ertuğrul MevlütEpilepsi, merkezi sinir sisteminde (MSS) bir grup nöronun ani, anormal, aşırı ve senkronize deşarjları sonucu ortaya çıkan nöbetlerle seyreden nörolojik bir hastalıktır (1). Epilepsili hastaların yaklaşık %40’ının etiolojisinde monojenik, kromozomal ve çok etmenli kalıtımlı genetik hastalıklar bulunmaktadır (2). Epilepsi ile birliktelik gösteren kromozomal bozuklukların çoğunda çok önemli dismorfik özellikler bulunmaktadır (3). Biz tedaviye dirençli epilepsi ile kliniğimize yönlendirilen periferik kandan kromozom analizi sonucu mos 47,XY,+r(6)[3]/ 46,XY, r(6)[40]/ 45,XY,-6[7] olarak bulunan yedi yaşındaki erkek hastayı sunduk. Bu olgu üzerinden epilepside klinik ve temel mekanizmaların anlaşılmasında sitogenetik tekniklerin kullanımı ve çok disiplinli çalışmanın önemini tartışmayı amaçladık.Öğe Frequency of MEFV mutation and genotype-phenotype correlation in cases with dysmenorrhea(Wiley-Blackwell, 2013) Ocak, Zeynep; Ocak, Tarık; Duran, Arif; Özlü, Tülay; Kocaman, Ertuğrul MevlütAimWe aimed to investigate the relation between mutations and polymorphisms playing roles in the onset of clinical findings of Familial Mediterranean Fever (FMF) and clinical phenotypic reflections manifesting with painful episodes, such as dysmenorrhea. Material and MethodsA total of 1000 female patients who had not responded well to non-steroidal anti-inflammatory drugs in the menstrual period, and who had presented to the emergency room with the complaint of recurrent pain episodes were included in the study. All the patients were Turkish women living in Istanbul. In this study, the mutations most frequently seen in the Mediterranean Fever Gene (MEFV), namely M694V, E148Q, M680I(G/C), V726A, P369S, R761H, A744S, M694I, K695R, F479L, M680I(G/A), and I692del were examined using the DNA sequence analysis following DNA isolation. ResultsThe number of individuals who had a mutation in at least one allele for FMF was 511 out of 1000 patients. Of these 511 patients, homozygous mutations were found in 21% (n=109), compound heterozygous mutations were found in 27% (n=136), and heterozygous mutations were found in 52% (n=266). The most frequent homozygous genotype seen in our study population was M694V/M694V. The most common compound heterozygote genotypes were M694V/M680I, M694V/V726A, M694V/E148Q, and M680I/V726A; and 11.7% (n=60) of the families in whom mutations were found had consanguinity. ConclusionWomen who present to the emergency room with the complaint of dysmenorrhea that is irresponsive to non-steroidal anti-inflammatory drugs may have several types of MEFV mutations that are responsible for FMF.