Cetin Saatci

Sister-chromatid exchange inducing effect of smokeless tobacco using on T-lymphocyte chromosomes

A kind of a smokeless tobacco (Maras powder) is widely used instead of cigarettes in the South Eastern region of Turkey. In this study we investigated the sister-chromatid exchange (SCE) inducing effect of this powder on the chromosomes of its users compared with smokers and nonsmokers using standard cell culture methods and SCE staining techniques. Average SCE per metaphase and total SCEs increased significantly among both smokeless tobacco users and smokers compared to nonsmokers (p < 0.01). However, the effect is significantly lower in smokeless tobacco users than in smokers (p < 0.05).

Frank-ter Haar syndrome with unusual clinical features

Frank-ter Haar syndrome first recognized by Frank et al. [Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M.B. Katznelson, B. Cohen, R.M. Goodman, Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?, J. Genet. Hum. 21 (1973) 67-72.] and subsequently confirmed by ter Haar et al. [B. Ter Haar, B. Hamel, J. Hendriks, J. de Jager, Melnick-Needles syndrome: indication for an autosomal recessive form, Am. J. Med. Genet. 13 (1982) 469-477.]. The main clinical features of the syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macro cornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers [S.M. Maas, H. Kayserili, J. Lam, M.Y. Apak, R.C. Hennekam, Further delineation of Frank-ter Haar syndrome, Am. J. Med. Genet. 131 (2004) 127-133.]. We report a child with Frank-ter Haar syndrome presenting unusual clinical features. Hypopigmented areas in hair, bilateral adducted thumb, bilateral contractures in elbows and pelvic limb, atrial septal defect have not been described previously in the literature. Our patient also had double-outlet right ventricle.

The Effect of Maras Powder on DNA Methylation and Micronucleus Formation in Human Buccal Tissue

The plant powder “maras powder” (MP) has been used widely instead of cigarettes in the southeastern region of Turkey. The aim of this study was to assess the impacts of MP and cigarette smoking on the methylation and micronuclei (MN) formation in buccal cells of humans with a comparison to blood lymphocytes. DNA samples from 80 subjects (40 MP users, 20 tobacco smokers, 20 healthy volunteers) were analyzed for their genomic methylation status using Hpa II and Msp I digestions followed by a simple gel electrophoresis and ethidium bromide staining. A densitometric method was developed to measure the methylation in genomic DNA samples and the results were evaluated using a software program designed for this purpose. Buccal epithelial cells were collected from the same groups and examined for MN formation. The results indicated that a general genomic hypomethylation was present in almost all of the samples that were obtained from MP users and tobacco smokers. This hypomethylation was significant in MP users compared to smokers and healthy volunteers. The percentage of cells containing MN was 1.93 in MP users, 0.95 in healthy volunteers, and 1.82 in smokers. The MN frequency was significantly higher in MP users and smokers than in healthy volunteers. There was no statistical difference between smokers and MP users. Evidence indicates that MP usage induces DNA hypomethylation and increase frequency of MN formation.

Do Non-Steroidal Anti-Inflammatory Drugs Induce Sister Chromatid Exchanges in T Lymphocytes?

The genetic toxicity of non-steroidal anti-inflammatory drugs was investigated using the sister chromatid exchange technique in cultured human lymphocytes. A total of 48 patients were treated with non-steroidal anti-inflammatory drugs (ibuprofen, ketoprofen, naproxen, indomethacin, diclofenac or acetylsalicylic acid) for 2 weeks. The average numbers of sister chromatid exchanges in cultured lymphocytes from the patients, before and after treatment with these drugs, did not differ significantly (P > 0.05). These results indicate that treatment with non-steroidal anti-inflammatory drugs for 2 weeks does not induce sister chromatid exchanges in T lymphocytes.

Lack of association between the Glu298Asp polymorphism of endothelial nitric oxide synthase and slow coronary flow in the Turkish population

BACKGROUND Coronary endothelial dysfunction plays an important pathogenetic role in patients with slow coronary flow (SCF). No data exist regarding the possible contribution of the Glu298Asp polymorphism genotype of the endothelial nitric oxide synthase (eNOS) gene to human SCF in the literature. OBJECTIVE To investigate the association between SCF and the Glu298Asp polymorphism of the eNOS gene. METHODS The study population consisted of 85 consecutive patients. The patient group included 66 patients with angiographically proven normal coronary arteries with SCF, and 19 subjects with normal coronary arteries with no SCF. The thrombolysis in myocardial infarction frame count was used for the diagnosis of SCF. The Glu298Asp polymorphism was determined by polymerase chain reaction and restriction fragment length polymorphism. RESULTS The baseline characteristics were similar between the two groups, except for high-density lipoprotein cholesterol, which was higher in the SCF group than in the controls. The genotype distribution of Glu298Asp was as follows: GG 26%, GT 56% and TT 12%, where G is guanine and T is thymine. There was no difference in the frequency of the various genotypes or the alleles in patients with SCF versus normal controls. CONCLUSIONS The Glu298Asp polymorphism genotype of the eNOS gene is not a risk factor for SCF in the present study population.

Is TNF-α gene polymorphism related to pulmonary functions and prognosis as determined by FEV1, BMI, COPD exacerbation and hospitalization in patients with smoking-related COPD in a Turkish population?

INTRODUCTION Some conflicting results have been published about the relationship between TNF-α-308 gene polymorphism and chronic obstructive pulmonary disease (COPD). The aim of this study was to determine whether TNF-α-308 gene polymorphism was associated with smoking-related COPD and whether it was associated with pulmonary function parameters (PFTs), body mass index (BMI), and prognosis. METHODS We studied the frequencies of TNF-α-308 gene polymorphism in 90 male subjects (60 subjects with COPD and 30 healthy smokers) in a Caucasian population. RESULTS There was no significant difference in the frequency of G/G and G/A gene polymorphisms in the COPD group compared with control subjects (p>0.05). We compared COPD patients as G/A gene polymorphism and G/G gene polymorphism; the PFTs and BMI before and after one year were not statistically significant (p>0.05). Also, the exacerbation and hospitalization data of COPD patients were not significant between these groups. CONCLUSION In conclusion, there was no difference between smoking-related COPD and the control group according to TNF α-308 gene polymorphism in a Caucasian population. In addition, it was shown that important determinants of prognosis of COPD such as FEV1, BMI, COPD exacerbation and hospitalization were not associated with TNF-α-308 gene polymorphism.

Effect of sodium benzoate on DNA breakage, micronucleus formation and mitotic index in peripheral blood of pregnant rats and their newborns

ABSTRACT Sodium benzoate (SB) is one of the most widely used additives in food products in the world. The aim of this study was to assess the effect of three different concentrations of SB on the DNA breakage in liver cells and on the micronuclei formation and the mitotic index in lymphocytes of pregnant rats and their fetuses, as well as to evaluate the effects of SB on the fetus development. The results showed that general genomic injuries were present in almost all the liver cell samples obtained from the SB group compared with the control (non-treated) group. This indicates that SB usage may cause DNA damage and increase micronuclei formation. We recommend that pregnant women should avoid consuming foodstuffs containing SB as an additive.

A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.

BACKGROUND AND OBJECTIVES Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs. The aim of this study was to determine the frequency and spectrum of 12 MEFV mutations of these patients and any genotype-phenotype correlation in this large Turkish group. DESIGN AND SETTING A retrospective study at Erciyes University Medical Faculty, from January 2007 to June 2009. PATIENTS AND METHODS We enrolled 446 Turkish FMF patients and identified the known 12 MEFV mutations with clinical investigations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations. RESULTS Among the 446 patients, 103 (46.6%) had a heterozygous genotype, 44 (19.9%) had a homozygous genotype, and 74 (33.49%) had a compound heterozygous genotype. The most common mutation detected was heterozygote M694V (46/221). Of the included 446 patients, 218 (48.87%) were male and 228 (51.12%) were female. High parental consanguinity rates affect FMF development. The clinical spectrum varied with different mutation profiles. CONCLUSIONS This study plays an important role in detecting the distribution of MEFV mutations and determining clinical approaches among Turk FMF patients. Also, we seemed to detect a distinctive clinical picture, specifically a lower frequency of amyloidosis.

Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2).

Ann Saudi Med 28(3) May-June 2008 www.saudiannals.net 209 Holt-Oram syndrome (HOS), first described by Holt and Oram in 1960,1 is transmitted in an autosomal dominant mode of inheritance that is highly penetrant, with variable expression and characterized by upper limb anomalies that are always present, including mainly preaxial ray and congenital heart defects and/or cardiac conduction anomalies (OMIM 142900). The clinical manifestations vary and range from subclinical radiographic findings to overt, life-threatening disease. HOS occurs in approximately 1:100 000 live births; 85 percent of cases are attributed to new mutations in the TBX5 gene.2 The upper limb anomalies may be unilateral or bilateral and involve structures derived from the embryonic radial ray, typically the radial, carpal, and thenar bones. Aplasia, hypoplasia, fusion, and anomalous development of these structures produce a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms, and phocomelia. They affect preferentially the left rather than the right side without affecting the lower limbs at any time.3 The formation of a limb involves numerous genes.3 Between the fourth and sixth weeks of fetal development primary limb and heart differentiation occurs. In this condition, skeletal anomalies always affect the upper limbs. The lower limbs are not affected in HOS. The appearance of the upper limb buds before the lower limb buds may explain the preferential involvement of the upper limbs seen in this syndrome.4 In the majority of cases, cardiac defects like atrial septal defects or ventricular septal defects are found. More complex cardiovascular abnormalities such as tetralogy of Fallot or isolated pulmonary arterial hypoplasia are rare.1,5-9 The gene locus for HOS has been mapped to chromosome 12q24.1 and mutations of the TBX5 gene have been identified as the underlying gene defect. TBX5 is a member of the T-box transcription factor family and members of the T-box family of transcription factors regulate a variety of developmental Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2)

A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype.

The most common chromosomal anomaly is 45,X in the Turner syndrome. In addition to this, anomaly, mosaicism such as structural 46,X,i(Xq), 46,X,del(Xp), 46,X,r(X), 46,X,t(X;Y) and numerical 46XO/46,XX/47XXX are seen rather frequently. An infant with the Turner syndrome was found to have a karyotype 45X,t(1;2) (q41;p16) using high resolution banding. Based on our knowledge, we present the first case of 45X,t(1;2) (q41;p11.2), a karyotype in Turners syndrome in the literature.