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Youngest netherton patient with infantile asthma [Infantil astimi olan en küçük netherton hastasi]

Kutsal E. | Gücüyener K. | Bakirtaş A. | Eldeş N. | Öztaş M. | Dursun A.

Article | 2008 | Tuberkuloz ve Toraks56 ( 1 ) , pp.104 - 108

Netherton syndrome is a very rare disorder characterized with icthyosis, atopy, bamboo hair and intermittant aminoaciduria. The specifity of clinical and histopathological features of netherton syndrome is low in neonates and young infants who presents with predominating erythrodermia. Being the youngest infant presenting with the symptoms of infantile asthma we found it worth to report a six months old girl presenting with the feature of severe respiratory distress, generalized erythrodermia, and brittle hair.

Angiotensin-converting enzyme insertion/deletion polymorphism has no effect on the risk of atherosclerotic stroke or hypertension

Tascilar N. | Dursun A. | Ankarali H. | Mungan G. | Ekem S. | Baris S.

Article | 2009 | Journal of the Neurological Sciences285 ( 01.Feb ) , pp.137 - 141

Background and purpose: Stroke is a heterogeneous multifactorial disease. Hence, a large number of candidate genes are involved in stroke pathophysiology, such as blood pressure regulation and atherosclerosis. Although angiotensin-converting enzyme insertion/deletion (ACE I/D) polymorphism is considered to have a role in hypertension, coronary artery disease, and myocardial infarction, its relationship with cerebrovascular disease and hypertension in stroke in different ethnic populations is still inconsistent. Methods: ACE I/D polymorphism, detected by polymerase chain reaction (PCR), was studied in 97 patients with large-vessel an . . .d 60 patients with small-vessel atherosclerotic stroke (44 asymptomatic, 16 symptomatic lacunes) and 85 healthy subjects with normal brain imaging. The demographic data, lipid profile and risk factors of patients and controls were obtained retrospectively. Results: ACE genotypes were in Hardy-Weinberg equilibrium in both patients and controls. Prevalences of DD, ID and II genotype were 41%, 40%, and 19%, respectively, in the stroke group. Differences in ACE I/D polymorphism distribution were statistically insignificant between the groups. This lack of association between stroke and ACE I/D polymorphism did not change in the presence of traditional risk factors (hypertension, diabetes mellitus, smoking, and dyslipidemia). Although hypertension was significantly more common in the patient groups, ACE I/D polymorphism showed no effect on hypertension risk. This lack of association also did not change according to groups or in the presence of diabetes mellitus, male gender or smoking. Conclusion: ACE I/D polymorphism did not predict the risk of stroke or hypertension in our population living in the western Black Sea region of Turkey. © 2009 Elsevier B.V. All rights reserved Daha fazlası Daha az

May TLR4 Asp299Gly and IL17 His161Arg polymorphism be associated with progression of primary measles infection to subacute sclerosing panencephalitis?

Karakas-Celik S. | Piskin I.E. | Keni M.F. | Calik M. | Iscan A. | Dursun A.

Article | 2014 | Gene547 ( 2 ) , pp.186 - 190

SSPE is a progressive neurological disorder of children. Only some of the children who are infected with measles virus develop SSPE, which supports individual variation. TLR-2 and TLR-4 play an important role in innate immunity by recognizing envelope proteins of MV. Another important cytokine that plays an important role in orchestrating innate immune function is IL-17. The purpose of our study is to elucidate whether the TLR2, TLR4, IL17F and IL17A gene polymorphisms are susceptibility genes for the development of SSPE.Using the PCR-RFLP methods, the single nucleotide polymorphisms of TLR2 (Arg753Gln, Arg677Trp, -. 194 to -. 174 d . . .el), TLR4 (Asp299Gly and Thr399Ile) IL17F (His161Arg, Glu126Gly) and IL17A were studied in 54 patients with SSPE and 81 healthy controls.For Asp299Gly polymorphism of the TLR4 gene we found that there were no control individuals who were homozygous carriers of the Gly/Gly genotype, and the risk for SSPE increased at approximately 4.7 fold for the heterozygous carriers of the Asp/Gly genotype (OR 4.727, 95%-CI 1.192-18.742; P. = 0.01), when compared to healthy controls. Also our findings demonstrate that homozygosity for the Arg161 variant of the IL17F His161Arg polymorphism is inversely associated with development of SSPE (OR 0.114 95%-CI 0.026-0.494; P. Daha fazlası Daha az

Angiotensin-converting enzyme gene polymorphism (insertion/deletion) and liver fibrosis in Turkish patients from the western Black Sea Region, Turkey

Turhan N.K. | Uygun Ilikhan S. | Hamamcioglu A.C. | Ustundag Y. | Dursun A. | Kokturk F.

Article | 2015 | Genetics and Molecular Research14 ( 4 ) , pp.17079 - 17090

Chronic viral hepatitis B, chronic viral hepatitis C, non-alcoholic steatohepatitis, alcoholic liver disease, autoimmune hepatitis, primary biliary cirrhosis, and secondary biliary cirrhosis are important health issues worldwide. While an association between angiotensin-converting enzyme gene insertion/deletion (ACE gene I/D) polymorphism and liver fibrosis has been demonstrated in rat studies, the results of clinical studies area have been contradictory. The aim of this study was to assess the possible association between ACE gene I/D polymorphism and liver fibrosis in a large group of Turkish patients from the western Black Sea re . . .gion. In 418 patients with different etiologies, ACE gene I/D polymorphism and serum ACE levels were investigated. The distribution of the “DD”, “ID”, “II” genotypes of the ACE gene were 32.5, 48.8, and 18.7% in the mild to moderate fibrosis group (N = 246, F:1-3 according to Ishak’s score) and 39.0, 44.2, and 16.9% in the advanced fibrosis group (N = 172, F:4-6 according to Ishak’s score). A significant correlation between serum ACE levels and ACE gene alleles was identified (P < 0.001): serum ACE levels of patients with D alleles were higher than those of patients with I alleles [44 (min 7-max 101) versus 29 (min 7-max 96)]. Patients with advanced fibrosis were also found to be older than those with mild to moderate fibrosis (P < 0.001). No significant association was noted between the patient gender and fibrosis severity. We conclude that ACE I/D polymorphism is not associated with the degree of liver fibrosis. © FUNPEC-RP Daha fazlası Daha az

The impact of the IL-1ß, IL-1Ra, IL-2, IL-6 and IL-10 gene polymorphisms on the development of Behcet's disease and their association with the phenotype

Bariş S. | Akyürek Ö. | Dursun A. | Akyol M.

Article | 2016 | Medicina Clinica146 ( 9 ) , pp.379 - 383

Background and objective This trial was designed to investigate the effects of the interleukin (IL)-1ß, IL-1Ra, IL-2, IL-6, IL-10 gene polymorphisms on Behcet's disease (BD) occurrence and the association between the polymorphisms and the phenotype. Materials and method The study population consisted of 71 patients and 70 age and gender-matched healthy subjects. Each of the participants had 2cc of blood withdrawn, which was placed into a whole blood tube, and the DNA was obtained using the NucleoSpin® Blood DNA Isolation kit. To display the band lengths, the products were amplified using the primary pairs of the interleukins investi . . .gated and developed in a 2% agarose gel. Results There were no significant differences between the groups with respect to the IL-1Ra, IL-1ß, IL-2, IL-6 and the IL-10 gene polymorphism distributions. In the patient group the IL-1RN2 gene polymorphism was detected to be statistically correlated with the presence of articular involvement (p = 0.0283) and the IL-1ß gene polymorphism was statistically correlated with the presence of an ocular lesion (p = 0.0178). The evaluation of the IL-2 gene polymorphism (p = 0.0065) and IL-10 gene polymorphism (p = 0.0483) distributions with respect to age of BD onset revealed a statistically significant distribution. Conclusion The statistical correlations between the articular involvement and IL-1RN, the ocular involvement and the IL-1ß, and the age of disease onset and the IL-2 and IL-10 gene polymorphisms, detected for the first time in the literature, suggest that these polymorphisms could be statistically associated with the disease symptoms and used as prognostic factors. © Copyright 2015 Published by Elsevier Espaa, S.L.U. All rights reserved Daha fazlası Daha az

Myocardial ischemia caused by a coronary anomaly left anterior descending coronary artery arising from right sinus of Valsalva

Dogan S.M. | Gursurer M. | Aydin M. | Gocer H. | Cabuk M. | Dursun A.

Article | 2006 | International Journal of Cardiology112 ( 3 ) , pp.379 - 383

We present the case of a patient in anomalous origin of the left anterior descending coronary artery that caused myocardial ischemia and led to positive myocardial scintigraphic results. Coronary angiography showed that the left anterior descending coronary artery arose from the right coronary ostium-an anomaly that has been associated with chest discomfort-without atherosclerotic lesions. Left circumflex artery and the diagonal branches were arising from the left main coronary artery and the whole coronary tree were free of atherosclerosis. © 2006 Elsevier Ireland Ltd. All rights reserved.

N-terminal probrain natriuretic peptide predicts altered circadian variation in essential hypertension

Dogan S.M. | Aydin M. | Gursurer M. | Dursun A. | Mungan G. | Onuk T.

Article | 2007 | Coronary Artery Disease18 ( 5 ) , pp.347 - 352

Diminished nocturnal blood pressure fall in nondipper hypertensive patients are closely associated with poor prognosis. N-terminal probrain natriuretic peptide can also identify poor prognosis in miscellaneous heart diseases. In this study, we aimed to clarify the association between probrain natriuretic peptide levels and diminished nocturnal blood pressure fall in patients with essential hypertension. Twenty-six consecutive nondipper (age: 53±8 years, 14 men) (group 1), and 26 dipper hypertensive patients (age: 52±9 years, 16 men) (group 2), based on ambulatory blood pressure monitoring, and age and sex-matched 28 normotensive par . . .ticipants (age: 50±11 years, 16 men) (group 3) were compared with each other. Although systolic and diastolic ambulatory blood pressure values were similar in hypertensives during the day, those at night were higher in group 1 ( Daha fazlası Daha az

Interleukin 18 gene polymorphism is a risk factor for multiple sclerosis

Karakas Celik S. | Öz Z.S. | Dursun A. | Unal A. | Emre U. | Cicek S. | Keni F.M.

Article | 2014 | Molecular Biology Reports41 ( 3 ) , pp.1653 - 1658

Proinflammatory cytokines with immunosuppressive properties play an important role in the pathogenesis of multiple sclerosis (MS). Interleukin 18 (IL-18) is one of the most important innate cytokines produced from macrophages in the early stages of the inflammatory immune response. The purpose of this study was to determine whether there was any relationship between IL18 gene polymorphisms and MS. IL18 genotyping were performed in 101 MS patients and 164 control subjects by using the PCR-restriction fragment length polymorphism (PCR-RFLP) method. The frequency of MS patients with the CC genotype of the IL18 gene at position -137 was . . . significantly higher than with the GG genotype [p = 0.01, odds ratio (OR) 3.17]. In haplotype analysis of two SNPs in the IL18 gene, frequency of the CC haplotype was significantly higher in MS patients (p = 0.002, OR 3.0). However, the genotype distribution of the IL18 -607 C/A polymorphism in the MS patient group was not significantly different from that of the control group. These data suggest that IL18 gene polymorphisms at position -137 might be a genetic risk factor for MS in the Turkish population. © 2014 Springer Science+Business Media Daha fazlası Daha az

The prevalence of mental retardation by gender, age of diagnosis and location in Zonguldak province, Turkey

Ayoglu F.N. | Cabuk F. | Kiran S. | Ocakci A. | Sahin Z. | Dursun A.

Article | 2008 | Neurosciences13 ( 1 ) , pp.57 - 60

Objectives: To evaluate the prevalence of mental retardation by gender, age of diagnosis, and location in Zonguldak, Turkey. Methods: The data of 1909 mentally retarded children recorded between 1995 and 2003 was obtained from the Learning Disability Guidance and Research Centre. Age, gender, IQ scores, the age of diagnosis, and living areas of cases were evaluated. Results: The distribution of mental retardation was as follows; 304 cases (15.9%) were profound and severe, 1060 (55.6%) were moderate and mild, and 545 (28.5%) were borderline. The prevalence of mental retardation was 12.1% (male: 15.1%, female: 9.1%). Of the cases, 132 . . .7 (69.5%) lived in urban areas. Conclusion: Most individuals with severe mental retardation become enrolled in the service system during early childhood, but children with mild mental retardation, especially those with no other neurological impairments, may never enter the system or may not do so until puberty. Most of our cases were diagnosed between the ages of 6 and 10. This proves the importance of school guidance of learning disability and their collaboration with The Learning Disability Guidance and Research Center Daha fazlası Daha az

Investigation of genetic variations of il17 for vitiligo disease

Celik S.K. | Tekin N.S. | Genc G.C. | Edgunlu T. | Turkcu U.O. | Dursun A.

Article | 2019 | Kuwait Medical Journal51 ( 3 ) , pp.283 - 289

Objective: Vitiligo is a disorder of pigmentation characterized by the presence of depigmented skin macules due to a chronic and progressive loss of melanocytes from the cutaneous epidermis. Among many different etiologic hypotheses that have been suggested so far for vitiligo, the most compelling one involves a combination of environmental and genetic factors that cause autoimmune melanocyte destruction. The purpose of this study is then to determine whether there is any relationship between vitiligo and IL17 gene Glu126Gly, His161Arg and G197A polymorphisms. Design: Controlled prospective study Setting: Department of Molecular Bio . . .logy and Genetics, Bulent Ecevit University Subjects: Genetic polymorphisms of IL17 gene were detected by using polymerase chain reaction based restriction fragment length polymorphism in 86 vitiligo patients and 90 healthy controls. Intervention: For genetic analysis, 5 ml of venous blood was drawn into tubes containing EDTA from each patient. Main outcome measures: IL17 gene Glu126Gly, His161Arg and G197A polymorphisms in vitiligo patients Results: As a result of our study, we have found a significant relation between His161Arg polymorphism of IL17F gene and vitiligo patients (p = 0.045). Conclusions: Our findings suggest that the IL17F His161Arg gene polymorphism has a protective role in susceptibility to vitiligo. This may be regarded as hypothesis-generating and should further be investigated in independent studies. © 2019, Kuwait Medical Association. All rights reserved Daha fazlası Daha az

Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings

Cakmak-Genc G. | Karakas-Celik S. | Dursun A. | Piskin I.E.

Article | 2015 | Gene568 ( 2 ) , pp.211 - 214

We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis with G-banding with Trypsin-Giemsa revealed 46,XX,der(9)t(4;9)(q28;p24) resulting from the mother's t(4,9) (q28;p24) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 4q are rare chromosomal alterations. To our knowledge, this is the first report of choanal atresia in a patient with a partial trisomy of 4q28-q . . .ter and partial monosomy 9p24-9ter combination, which were detected by integrated cytogenetic and genomic analysis. © 2015 Daha fazlası Daha az

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