Bulunan: 46 Adet 0.021 sn
Koleksiyon [7]
Tam Metin [1]
Yayın Türü [4]
Yazar [19]
Yayın Yılı [14]
Konu Başlıkları [20]
Yayıncı [12]
Yayın Dili [2]
Dergi Adı [20]
Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma

Cakmak Genc G. | Dursun A. | Nagy N. | Celikmakas A. | Acuner B.

Makale | 2019 | The American Journal of dermatopathology41 ( 10 ) , pp.778 - 780

[No abstract available]

MEFV gene is a probable susceptibility gene for Behçet's disease

Imirzalioglu N. | Dursun A. | Tastan B. | Soysal Y. | Yakicier M.C.

Makale | 2005 | Scandinavian Journal of Rheumatology34 ( 1 ) , pp.56 - 58

Objective: Behçet's disease (BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial Mediterranean fever (FMF), is also known to be highly prevalent in these populations. The prevalence of BD is higher in the FMF patient population than in populations known to be rich in BD. Both BD and FMF have some pathophysiological features in common and they result from inappropriate activation of neutrophils. Clinical manifestations of both diseases can mimic each other and the coexistence of both diseases in th . . .e same patient has been reported. Given that BD and FMF have similar pathophysiological, epidemiological, and clinical features, we hypothesized that the gene responsible for FMF, MEFV, may also play a role in the pathogenesis of BD. Methods: Forty-two BD patients who had no symptoms and family history for FMF and 66 healthy controls were screened for common MEFV gene mutations (E148Q, M680I, M694V, and V726A). Results: Fifteen patients (36%) displayed MEFV mutations (nine M694V, five E148Q, and one M680I) and mutation rates were significantly elevated compared to 66 (11%) healthy controls (p=0.0034). Conclusion: The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Behçet's disease. © 2005 Taylor & Francis 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.

Makale | 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

The relation of PON1-L55M gene polymorphism and clinical manifestation of Behcet's disease

Dursun A. | Cicek S. | Keni F.M. | Karakas-Celik S. | Sezer T. | Altinyazar C.H.

Makale | 2014 | Acta Biochimica Polonica61 ( 2 ) , pp.271 - 274

Purpose: Behçet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Paraoxonase is believed to play an important role in protection of LDL and HDL particles from oxidation, in antioxidant effect against lipid peroxidation on cellular membranes, and in anti-inflammatory process. Lipid peroxidation and free oxygen radicals have been thought to play a role in pathogenesis of BD. The association of paraoxonase gene polymorphisms with Behçet's Disease in a group of Turkish patients with clinical manif . . .estations and healthy controls has been investigated. Patients and Methods: Paraoxonase (PON-1-L55M) gene polymorphism was investigated in 50 Behcet patients and 50 healthy individuals with a PCR/RFLP method. Results: There were significant differences between patients and the control group in allele frequencies of the PON1 L55M polymorphism (p=0.04). Also, when patients were compared with the control group according to clinical manifestations, this statistical significance was getting sharper. Compared with the PON55 L allele, the M allele was associated with greater than 3.5 fold (OR 3.5, 95% CI 1.3-8.9) increased risk of ocular (OR 2.4, 95% CI 1.1-5.3), 2.4 fold joint and 3.1 fold (OR 3.1, 95% CI 1.1-8.4) central nervous system manifestations of BD. Conclusion The PON L55M gene polymorphism seemed to play a role in the pathogenesis of BD 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.

Makale | 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

Leptin receptor gene Gln223Arg polymorphism is not associated with obesity and metabolic syndrome in Turkish children

Komşu-Örnek Z. | Demirel F. | Dursun A. | Ermiş B. | Etem Pişkin I. | Bideci A.

Makale | 2012 | Turkish Journal of Pediatrics54 ( 1 ) , pp.20 - 24

The aim of the study was to investigate the relationship between leptin receptor gene (LEPR) Gln223Arg polymorphism and obesity in Turkish children. Ninety-two obese and 99 lean children (between 5-15 years) were included in the study. Twenty-three of the obese children were diagnosed with metabolic syndrome. Blood samples were collected for morning fasting blood glucose, insulin, leptin, and lipid level measurements. LEPR Gln223Arg polymorphism was analyzed by restriction fragment length polymorphism. Significant differences were observed in anthropometric measurements, fasting blood glucose, insulin, leptin, and lipid levels betwe . . .en obese and lean children. Serum leptin levels were markedly higher in obese children. No significant association was noted between Gln223Arg polymorphism and serum leptin, insulin and lipid levels. There were no differences in the genotype frequencies or allele distribution for Gln223Arg polymorphism among obese, obese with metabolic syndrome and lean children. Our findings suggest that there is no association between Gln223Arg polymorphism and obesity in Turkish children Daha fazlası Daha az

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

Vissers L.E.M. | Fano V. | Martinelli D. | Campos-Xavier B. | Barbuti D. | Cho T.-J. | Dursun A.

Makale | 2011 | American Journal of Medical Genetics, Part A155 ( 11 ) , pp.2609 - 2616

We used exome sequencing of blood DNA in four unrelated patients to identify the genetic basis of metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA), a rare entity comprising severe chondrodysplasia, organic aciduria, and variable cerebral involvement. No evidence for recessive mutations was found; instead, two patients showed mutations in IDH1 predicting p.R132H and p.R132S as apparent somatic mosaicism. Sanger sequencing confirmed the presence of the mutation in blood DNA in one patient, and in blood and saliva (but not in fibroblast) DNA in the other patient. Mutations at codon 132 of IDH1 cha . . .nge the enzymatic specificity of the cytoplasmic isocitrate dehydrogenase enzyme. They result in increased D-2-hydroxy-glutarate production, ?-ketoglutarate depletion, activation of HIF-1? (a key regulator of chondrocyte proliferation at the growth plate), and reduction of N-acetyl-aspartyl-glutamate level in glial cells. Thus, somatic mutations in IDH1 may explain all features of MC-HGA, including sporadic occurrence, metaphyseal disorganization, and chondromatosis, urinary excretion of D-2-hydroxy-glutaric acid, and reduced cerebral myelinization. © 2011 Wiley Periodicals, Inc Daha fazlası Daha az

The co-incidence of multiple sclerosis in a patient with familial Mediterranean fever

Ünal A. | Emre U. | Dursun A. | Aydemir S.

Mektup | 2009 | Neurology India57 ( 5 ) , pp.672 - 673

[No abstract available]

Effect of metoprolol treatment on pulmonary venous flow pattern studied by transesophageal pulsed Doppler echocardiography in mild to moderate mitral stenosis in sinus rhythm

Aydin M. | Özeren A. | Bilge M. | Demirkiran M. | Cam F. | Dursun A. | Elbey M.A.

Makale | 2004 | Turk Kardiyoloji Dernegi Arsivi32 ( 4 ) , pp.239 - 245

This study was conducted to evaluate the effect of metoprolol therapy on pulmonary venous flow pattern in patients with mild to modarete mitral stenosis in sinus rhythm. We studied 23 patients with isolated mild to moderate mitral stenosis (mitral valve area 1.6±0.3 cm2). All patients received metoprolol 100 mg once daily orallyfor 1 month. Pulsed wave Doppler transesophageal echocardiograpic examination of the pulmonary venous flow was performed at the beginning of the study and after 1 month of treatment. Peak systolic pulmonary venous fiow (PVs) velocity, PVs velocity time integral (VTI), peak diastolic pulmonary venous flow (PM) . . . velocity, PVd-VT, peak pulmonary venous atrial reversal flow (PVd) velocity, PVa-VTI, and PVa duration time were measured. Peak and mean transmitral gradient, pulmonary artery pressure, systolic and diastolic blood pressure, and heart rate, reduced significantly after metoprolol treatment. The pulmonary venous peak systolic velocity, and pulmonary venous atrial reversal flow velocity duration time increased significantly from 0.55 ± 0.19 m/s to 0.66 ± 0.12 m/s, p<0.05, and from 84 ± 27 to 11 2± 31 msec, p<0.01, respectively). Regarding VTI, PVs-VTI increased from 10.8±3.2 cm to 11.9±4.3 cm (p<0.01), PVd-VTI increased from 5.1±2.4 cm to 5.4±2.5 cm (p<0.05), and PVa-VTI increased from 2.8±1.1 cm to 3.1±1.3 cm, p<0.05. Conclusion: Metoprolol treatment increased pulmonary venous flow as an indicator of improved left atrial function in patients with mitral stenosis and sinus rhythm. These results may contribute to disclosing the underlying mechanisms of the favourable effects of beta blockade in mitral stenosis Daha fazlası Daha az

Angiotensin-converting enzyme gene and endothelial nitric oxide synthase gene polymorphisms in Behçet's disease with or without ocular involvement

Dursun A. | Durakbasi-Dursun H.G. | Dursun R. | Baris S. | Akduman L.

Makale | 2009 | Inflammation Research58 ( 7 ) , pp.401 - 405

Relationship between TLR2 and TLR4 gene polymorphisms with psoriasis [TLR2 ve TLR4 gen polimorfizmlerinin psoriasis ile ilişkisi]

Keni F.M. | Çelik S.K. | Solak N. | Genç G.Ç. | Dursun A.

Makale | 2018 | Turk Dermatoloji Dergisi12 ( 1 ) , pp.28 - 32

Objective: Psoriasis is a common, chronic and recurrent disease which can affect skin and also joints. Although the etiopathogenesis of psoriasis has not precisely determined, the most supported mechanism is inflammation triggered by any factor. Toll like receptors (TLRs) family described in recent years is known to play a critical role in host immunity against a wide variety of pathogens. In our study, we aimed to reveal possible relationships of some TLR gene polymorphisms with psoriasis in this patient group. Methods: A hundred patients who diagnosed with psoriasis and 173 healthy controls were included in the study which known t . . .o be without inflammatory disease, TLR2 gene Arg677Trp, Arg753Gln, -196-174 del and TLR4 gene Asp299Gly, Thr399Ile polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism method, patient and control groups were compared in terms of gene polymorphisms mentioned. Results: In this study, it was determined psosiasis has a statistically significant relationship with GA genotype and A allele in TLR2 Arg753Gln polymorphism. Furthermore, when the patient and control groups were compared for -196-174 del gene polymorphism, it was determined that ins/del genotype had a protective effect. Conclusion: We think that variant alleles in the TLR2 gene may play an important role in the molecular etiopathogenesis of psoriasis. © Telif Hakkı 2018 Türk Dermatoloji Derneği Daha fazlası Daha az

6698 sayılı Kişisel Verilerin Korunması Kanunu kapsamında yükümlülüklerimiz ve çerez politikamız hakkında bilgi sahibi olmak için alttaki bağlantıyı kullanabilirsiniz.

Bu site altında yer alan tüm kaynaklar Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.