Person: DİRESKENELİ, RAFİ HANER
Loading...
Email Address
Birth Date
Research Projects
Organizational Units
Job Title
Last Name
DİRESKENELİ
First Name
RAFİ HANER
Name
144 results
Search Results
Now showing 1 - 10 of 144
Publication Open Access A severe case of systemic lupus erythematosus with increased pressure communicating hydrocephalus(AVES, 2015-06-04) TUNCER, EMİNE NEŞE; Ozen, Gulsen; Yilmaz-Oner, Sibel; Tuncer, Nese; Akbas, Turkay; Tuglular, Serhan; Direskeneli, HanerNormal/increased pressure hydrocephaly is an unusual manifestation of systemic lupus erythematosus (SLE), and the pathogenesis is still unclear. We report the case of an 18-year-old white female with severe refractory renal and pulmonary involvement who developed stupor during intensive immunosuppressive treatment. Enlarged ventricles on imaging and increased intracranial pressure with the exclusion of infectious and hemorrhagic/thrombotic processes suggested increased pressure communicating hydrocephalus associated with SLE. Few case reports are reviewed, and potential pathophysiologic mechanisms are discussed.Publication Metadata only Assessment of latent tuberculosis infection in Takayasu arteritis with tuberculin skin test and Quantiferon-TB Gold test(SPRINGER HEIDELBERG, 2010) DİRESKENELİ, RAFİ HANER; Karadag, Omer; Aksu, Kenan; Sahin, Abdurrahman; Zihni, Figen Yargucu; Sener, Burcin; Inanc, Nevsun; Kalyoncu, Umut; Aydin, Sibel Zehra; Ascioglu, Sibel; Ocakci, Pinar Talu; Bilgen, Sule Apras; Keser, Gokhan; Inal, Vedat; Direskeneli, Haner; Calguneri, Meral; Ertenli, Ihsan; Kiraz, SedatA possible relationship between Takayasu arteritis (TA) and tuberculosis (TB) has been suggested. An increased frequency of tuberculin skin test (TST) was observed in TA patients. Quantiferon-TB Gold test (QFT) is a new in vitro assay measuring interferon-gamma response to M. tuberculosis antigens and helpful in diagnosing latent TB infection. The aim of this study was to investigate latent TB infection among TA patients by the use of both TST and QFT Gold test. Ninety-four (male/female: 7/87) TA patients fulfilling ACR 1990 TA criteria from three different university hospitals in Turkey and 107 control subjects without inflammatory diseases were included in the study. Data about medical history (TA and TB) were collected for both groups. TST and QFT were performed. TST values a parts per thousand yen5 mm for TA patients and a parts per thousand yen15 mm for controls was accepted as TST positivity. Even though TA group was older (40 +/- A 12 vs. 32 +/- A 8, P < 0.001), there was no significant difference between TA patients and controls regarding demographic characteristics. Six TA patients and one control had a history of previous TB infection (P = 0.054). Although TST positivity was higher in TA group [55 patients (62.5%) vs. 24 controls (41.4%), P = 0.008], QFT positivity was similar between two groups [21 patients (22.3%) vs. 24 controls (22.4%), P > 0.05]. QFT was negative in two of six TA patients with previous TB history. Rate of latent TB infection in TA patients measured with QFT is no more than controls. QFT seems to be a good and favorable test compared with TST in detecting LTBI in TA.Publication Open Access Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study(OXFORD UNIV PRESS, 2019-02-01) DİRESKENELİ, RAFİ HANER; Gonzalez-Serna, David; Lopez-Isac, Elena; Yilmaz, Neslihan; Gharibdoost, Farhad; Jamshidi, Ahmadreza; Kavosi, Hoda; Poursani, Shiva; Farsad, Faraneh; Direskeneli, Haner; Saruhan-Direskeneli, Guhrer; Vargas, Sofia; Sawalha, Amr H.; Brown, Matthew A.; Yavuz, Sule; Mahmoudi, Mahdi; Martin, JavierObjectives. SSc is an autoimmune disease characterized by alteration of the immune response, vasculopathy and fibrosis. Most genetic studies on SSc have been performed in European-ancestry populations. The aim of this study was to analyse the genetic component of SSc in Middle Eastern patients from Iran and Turkey through a genome-wide association study. Methods. This study analysed data from a total of 834 patients diagnosed with SSc and 1455 healthy controls from Iran and Turkey. DNA was genotyped using high-throughput genotyping platforms. The data generated were imputed using the Michigan Imputation Server, and the Haplotype Reference Consortium as a reference panel. A meta-analysis combining both case-control sets was conducted by the inverse variance method. Results. The highest peak of association belonged to the HLA region in both the Iranian and Turkish populations. Strong and independent associations between the classical alleles HLA-DRB1*11:04 [P = 2.10 x 10(-24), odds ratio (OR) = 3.14] and DPB1*13:01 (P = 5.37 x 10(-14), OR = 5.75) and SSc were observed in the Iranian population. HLA-DRB1*11:04 (P = 4.90 x 10(-11), OR = 2.93) was the only independent signal associated in the Turkish cohort. An omnibus test yielded HLA-DRB1 58 and HLA-DPB1 76 as relevant amino acid positions for this disease. Concerning the meta-analysis, we also identified two associations close to the genome-wide significance level outside the HLA region, corresponding to IRF5-TNPO3 rs17424921-C (P = 1.34 x 10(-7), OR = 1.68) and NFKB1 rs4648133-C (P = 3.11 x 10(-7), OR = 1.47). Conclusion. We identified significant associations in the HLA region and suggestive associations in IRF5-TNPO3 and NFKB1 loci in Iranian and Turkish patients affected by SSc through a genome-wide association study and an extensive HLA analysis.Publication Open Access Assessment of the frequency of cardiovascular risk factors in patients with Takayasu's arteritis(OXFORD UNIV PRESS, 2017-11-01) ÇIKIKÇI, CEYLAN; Alibaz-Oner, Fatma; Koster, Matthew J.; Unal, Ali U.; Yildirim, Hale G.; Cikikci, Ceylan; Schmidt, Jean; Crowson, Cynthia S.; Makol, Ashima; Ytterberg, Steven R.; Matteson, Eric L.; Direskeneli, Haner; Warrington, Kenneth J.Objectives. The prevalence of atherosclerotic risk factors and disease in Takayasu's arteritis (TAK) has not been well defined. We aimed to assess the frequency of cardiovascular (CV) risk factors and the incidence of CV events (CVEs) in patients with TAK from two ethnically different populations. Methods. Patients with TAK followed at Mayo Clinic, Rochester, MN, USA and Marmara University, Istanbul, Turkey were included in this retrospective study. Patients with TAK were compared with age-, sex- and calendar year-matched controls from the same geographical region without TAK. The 2008 Framingham 10-year general CV risk score (FRS) was used for the evaluation of CV risk at the time of TAK incidence/index date. Results. In total, 191 patients with TAK and 191 non-TAK controls were included. Hypertension and the prevalence of lipid-lowering treatments were significantly more frequent in TAK. Prior to the incidence/index date, occurrence of CVE was significantly higher in TAK. The FRS was significantly higher in TAK compared with non-TAK at incidence/index date. The cumulative incidence of CVE was 15.4% at 10 years in TAK vs 5.8% in non-TAK; the risk of CVE was increased among patients with TAK (hazard ratio = 4.36; 95% CI: 1.25, 15.13). Conclusion. CV risk factors are more common in patients with TAK, particularly hypertension. The FRS is higher in patients with TAK at the time of diagnosis. The cumulative incidence of CVE was also significantly higher during follow-up in TAK. Our results suggest that patients with TAK should undergo careful assessment of CV risk factors, and an aggressive risk modification approach is warranted.Publication Open Access Expression of regulatory receptors on gamma delta T Cells and their cytokine production in Behcet's disease(BIOMED CENTRAL LTD, 2013) DİRESKENELİ, RAFİ HANER; Parlakgul, Gunes; Guney, Ekin; Erer, Burak; Kilicaslan, Zeki; Direskeneli, Haner; Gul, Ahmet; Saruhan-Direskeneli, GuherIntroduction: Behcet's disease (BD) is a multi-systemic disorder with muco-cutaneous, ocular, arthritic, vascular or central nervous system involvement. The role of gamma delta T cells is implicated in BD. The activation status of gamma delta T cells and their cytokine secretion against phosphoantigens are evaluated in BD. Methods: NKG2A, NKG2C, NKG2D, CD16 and CCR7 molecules on gamma delta T cells were analyzed in 70 BD, 27 tuberculosis (TB) patients and 26 healthy controls (HC). Peripheral gamma delta T cells were expanded with a phosphoantigen (BrHPP) and IL-2, restimulated with BrHPP and a TLR3 ligand, and cytokine production was measured. Results: gamma delta T cells were not increased in both BD and TB patients, but the proportions of TCRV delta 2(+) T cells were lower (58.9 and 50.7 vs. 71.7%, P = 0.04 and P = 0.005) compared to HC. Higher proportion of TCRV delta 2(+) T cells were CD16(+) (26.2 and 33.9 vs. 16.6%, P = 0.02 and P = 0.001) and CCR7(-) (32.2 and 27.9 vs. 17.7%, P < 0.0001 and P = 0.014) in BD and TB patients compared to HC. NKG2C(+) gamma delta(+) T cells were relatively increased (0.5 and 0.6 vs. 0.3%, P = 0.008 and 0.018), whereas NKG2D positivity was decreased in patients with BD and TB (77.7 and 75.8 vs. 87.5%, P = 0.001 and 0.004). Expansion capacity of gamma delta T cells in BD and TB as well as production of IL-13, IFN-gamma, granulocyte monocyte colony stimulating factor (GM-CSF), TNF-alpha, CCL4 and CCL5 in BD was lower compared to HC, when restimulated by TLR3 ligand and BrHPP. Conclusion: The changes on gamma delta T cells of BD as well as TB patients implicate that gamma delta T cells have already been exposed to regulatory effects, which changed their activity. Lower cytokine response of gamma delta T cells implicates down modulation of these cells in BD.Publication Open Access Development of a Core Set of Outcome Measures for Large-vessel Vasculitis: Report from OMERACT 2016(2017-12) ALİBAZ ÖNER, FATMA; Sreih, Antoine G.; Alibaz-Oner, Fatma; Kermani, Tanaz A.; Aydin, Sibel Z.; Cronholm, Peter F.; Davis, Trocon; Easley, Ebony; Gul, Ahmet; Mahr, Alfred; McAlear, Carol A.; Milman, Nataliya; Robson, Joanna C.; Tomasson, Gunnar; Direskeneli, Haner; Merkel, Peter A.Objective. Among the challenges in conducting clinical trials in large-vessel vasculitis (LVV), including both giant cell arteritis (GCA) and Takayasu arteritis (TA), is the lack of standardized and meaningful outcome measures. The Outcome Measures in Rheumatology (OMERACT) Vasculitis Working Group initiated an international effort to develop and validate data-driven outcome tools for clinical investigation in LVV. Methods. An international Delphi exercise was completed to gather opinions from clinical experts on LVV-related domains considered important to measure in trials. Patient interviews and focus groups were completed to identify outcomes of importance to patients. The results of these activities were presented and discussed in a “Virtual Special Interest Group” using telephone- and Internet-based conferences, discussions through electronic mail, and an in-person session at the 2016 OMERACT meeting. A preliminary core set of domains common for all forms of LVV with disease-specific elements was proposed. Results. The majority of experts agree with using common outcome measures for GCA and TA, with the option of supplementation with disease-specific items. Following interviews and focus groups, pain, fatigue, and emotional effect emerged as health-related quality of life domains important to patients. Current disease assessment tools, including the Birmingham Vasculitis Activity Score, were found to be inadequate to assess disease activity in GCA and standardized assessment of imaging tests were felt crucial to study LVV, especially TA. Conclusion. Initial data from a clinician Delphi exercise and structured patient interviews have provided themes toward an OMERACT-endorsed core set of domains and outcome measures.Publication Open Access Subclinical Atherosclerosis in Systemic Sclerosis: Not Less Frequent Than Rheumatoid Arthritis and Not Detected With Cardiovascular Risk Indices(WILEY, 2016-10) SÜNBÜL, MURAT; Ozen, Gulsen; Inanc, Nevsun; Unal, Ali U.; Korkmaz, Fatmanur; Sunbul, Murat; Ozmen, Mustafa; Akar, Servet; Deniz, Rabia; Donmez, Salim; Pamuk, Omer N.; Atagunduz, Pamir; Tigen, Kursat; Direskeneli, HanerObjective. To determine the frequency of subclinical atherosclerosis in patients with systemic sclerosis (SSc; scleroderma) compared to healthy subjects (HS) and rheumatoid arthritis (RA) patients and to determine the ability of cardiovascular (CV) risk indices in detecting SSc patients with subclinical atherosclerosis. Methods. A total of 110 SSc patients (102 females and 8 males, mean +/- SD age 50.5 +/- 11.9 years), 110 age-and sex-matched RA patients, and 51 HS without CV disease were examined with ultrasonography (US). Carotid intima-media thickness (cIMT) >0.90 mm and/or carotid plaques were used as the gold standard for subclinical atherosclerosis (US+). Systematic Coronary Risk Evaluation (SCORE), QRisk II, and 2013 American College of Cardiology (ACC)/American Heart Association (AHA) CV risk indices were calculated. Results. Twenty-one (19.1%) SSc patients, 24 (21.8%) RA patients, and 3 (5.9%) HS had subclinical atherosclerosis (SSc versus RA: P=0.62, SSc versus HS: P=0.029). cIMT in SSc was higher compared to HS (0.68 +/- 0.15 mm versus 0.61 +/- 0.10 mm; P=0.008) but similar to RA patients (0.66 +/- 0.14 mm; P=0.82). Subclinical atherosclerosis in SSc was associated with age (odds ratio [OR] 1.07, P=0.013), elevated erythrocyte sedimentation rate (OR 3.4, P=0.045), and pulmonary arterial hypertension (OR 4.27, P=0.012). Concerning CV risk indices, of the 21 US+ SSc patients only 0, 3 (14.2%), and 6 (28.6%) were classified as high CV risk according to SCORE, QRisk II, and ACC/AHA risk indices, respectively. Conclusion. Subclinical atherosclerosis in SSc patients is more frequent than in HS, but is as frequent as in RA patients in which accelerated atherosclerosis is clearly defined. CV risk indices for the general population are considerably insufficient to detect SSc patients with atherosclerosis.Publication Open Access INVESTIGATION OF POOR PROGNOSTIC FACTORS AMONG RHEUMATOID ARTHRITIS PATIENTS IN TURKBIO REGISTRY(BMJ PUBLISHING GROUP, 2018-06) DİRESKENELİ, RAFİ HANER; Inanc, N.; Erturk, Z.; Ozen, G.; Dalkilic, E.; Koca, S. S.; Can, G.; Karatas, A.; Pehlivan, Y.; Yazici, A.; Cefle, A.; Akar, S.; Senel, S.; Oz, B.; Akkoc, N.; Direskeneli, H.Publication Open Access Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behcet's Disease(WILEY, 2015-12) DİRESKENELİ, RAFİ HANER; Ognenovski, Mikhail; Renauer, Paul; Gensterblum, Elizabeth; Kotter, Ina; Xenitidis, Theodoros; Henes, Jorg C.; Casali, Bruno; Salvarani, Carlo; Direskeneli, Haner; Kaufman, Kenneth M.; Sawalha, Amr H.Objective. Behcet's disease (BD) is a systemic inflammatory disease with an incompletely understood etiology. Despite the identification of multiple common genetic variants associated with BD, rare genetic variants have been less explored. We undertook this study to investigate the role of rare variants in BD by performing whole exome sequencing in BD patients of European descent. Methods. Whole exome sequencing was performed in a discovery set comprising 14 German BD patients of European descent. For replication and validation, Sanger sequencing and Sequenom genotyping were performed in the discovery set and in 2 additional independent sets of 49 German BD patients and 129 Italian BD patients of European descent. Genetic association analysis was then performed in BD patients and 503 controls of European descent. Functional effects of associated genetic variants were assessed using bioinformatic approaches. Results. Using whole exome sequencing, we identified 77 rare variants (in 74 genes) with predicted protein-damaging effects in BD. These variants were genotyped in 2 additional patient sets and then analyzed to reveal significant associations with BD at 2 genetic variants detected in all 3 patient sets that remained significant after Bonferroni correction. We detected genetic association between BD and LIMK2 (rs149034313), involved in regulating cytoskeletal reorganization, and between BD and NEIL1 (rs5745908), involved in base excision DNA repair (P = 3.22 x 10(-4) and P = 5.16 x 10(-4), respectively). The LIMK2 association is a missense variant with predicted protein damage that may influence functional interactions with proteins involved in cytoskeletal regulation by Rho GTPase, inflammation mediated by chemokine and cytokine signaling pathways, T cell activation, and angiogenesis (Bonferroni-corrected P = 5.63 x 10(-14), P = 7.29 x 10(-6), P = 1.15 x 10(-5), and P = 6.40 x 10(-3), respectively). The genetic association in NEIL1 is a predicted splice donor variant that may introduce a deleterious intron retention and result in a noncoding transcript variant. Conclusion. We used whole exome sequencing in BD for the first time and identified 2 rare putative protein-damaging genetic variants associated with this disease. These genetic variants might influence cytoskeletal regulation and DNA repair mechanisms in BD and might provide further insight into increased leukocyte tissue infiltration and the role of oxidative stress in BD.Publication Metadata only The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia(TUBITAK SCIENTIFIC & TECHNICAL RESEARCH COUNCIL TURKEY, 2019) DİRESKENELİ, RAFİ HANER; Yasar Bilge, N. Sule; Sari, Ismail; Solmaz, Dilek; Senel, Soner; Emmungil, Hakan; Kilic, Levent; Yilmaz Oner, Sibel; Yildiz, Fatih; Yilmaz, Sedat; Ersozlu Bozkirli, Duygu; Aydin Tufan, Muge; Yilmaz, Sema; Yazisiz, Veil; Pehlivan, Yavuz; Bes, Cemal; Yildirim Cetin, Gozde; Erten, Sukran; Gonullu, Emel; Sahin, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direskeneli, Haner; Erken, Eren; Kisacik, Bunyamin; Sayarlioglu, Mehmet; Cinar, Muhammed; Kasifoglu, TimucinBackground/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish IMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.