Clinical trait-specific genetic analysis in Behçet's disease identifies novel loci associated with ocular and neurological involvement.

Behçet's disease is a complex inflammatory vasculitis with a broad spectrum of clinical manifestations. The purpose of this study was to investigate the genetics underlying specific clinical features of Behçet's disease. A total of 436 patients with Behçet's disease from Turkey were studied.

Sex-specific analysis in Behçet's disease reveals higher genetic risk in male patients.

Objectives: Behçet's disease tends to be more severe in men than women. This study was undertaken to investigate sex-specific genetic effects in Behçet's disease.

Methods: A total of 1762 male and 1216 female patients with Behçet's disease from six diverse populations were studied, with the majority of patients of Turkish origin.

Intestinal Behçet Disease: Evaluation With MR Enterography-A Case-Control Study.

Objective: The purposes of this study were to discern imaging findings that distinguish Behçet disease from small-bowel Crohn disease, to find initial performance estimates for these findings, and to evaluate the diagnostic value of MR enterography (MRE) for detecting intestinal Behçet disease.

Materials And Methods: The MRE examinations of 30 consecutively registered patients with established intestinal Behçet disease were reviewed by two blinded readers. The frequencies of MRE findings were compared with those obtained for 30 control subjects with small-bowel Crohn disease who were matched for sex and age.

An analysis of the relationship between autoantibodies and clinical findings in patients with systemic sclerosis.

Background/aim: We aimed to investigate the prevalence of anti-RNA polymerase (RNAP) III and other autoantibodies in a group of Turkish patients with systemic sclerosis (SSc) and their relation with clinical features. Materials and methods: The prevalence of anti-RNAP III and other autoantibodies was analyzed in 93 patients with SSc and control groups including 86 patients with systemic lupus erythematosus (SLE) and 65 healthy subjects, respectively. Their relationship with diseases findings was assessed in a cross-sectional manner.

Criteria sets for primary Sjogren's syndrome are not adequate for those presenting with extraglandular organ involvements as their dominant clinical features.

Patients with primary Sjogren's syndrome (pSS) may go undiagnosed or be misclassified due to the insidious nature and wide spectrum of the disease. The available several classification criteria emphasize glandular findings. We aimed to analyze the efficiency of various classification criteria sets in patients diagnosed on the clinical basis by expert opinion and to compare those pSS patients who fulfilled these criteria with those who did not.

Anti-angiotensin II type 1 receptor autoantibodies (ATR-AAs) in patients with systemic sclerosis: lack of association with disease manifestations.

Angiotensin II type 1 receptor autoantibodies (ATR-AAs) are known to be associated with malignant hypertension, preeclampsia, and vascular rejection in kidney transplantation. They were also suspected to have pathogenetic role in vasculopathic changes in systemic sclerosis (SSc). Clinical data regarding ATR-AAs in SSc are scarce.

Low serum fibroblast growth factor 2 levels not accompanied by increased serum pentraxin 3 levels in patients with systemic sclerosis.

There are scarce clinical data regarding serum pentraxin 3 (PTX3) and fibroblast growth factor 2 (FGF2) in patients with systemic sclerosis (SSc). Study was conducted to evaluate serum levels in our SSc cohort. Serum PTX3 and FGF2 concentrations were compared among SSc, disease control (systemic lupus erythematosus (SLE)), and healthy control groups.

Association between single nucleotide polymorphisms in prospective genes and susceptibility to ankylosing spondylitis and inflammatory bowel disease in a single centre in Turkey.

Background/aims: To establish the prevalence of the single nucleotide polymorphisms (SNPs) of endoplasmic reticulum aminopeptidase 1 (ERAP1), IL-23 receptor (IL-23R), signal transducer and activator of transcription 3 (STAT-3) and Janus kinase 2 (JAK-2) in ankylosing spondylitis (AS) and inflammatory bowel disease (IBD) in a Turkish population.

Materials And Methods: A total of 562 subjects who presented at the Ankara University internal medicine departments of rheumatology and gastroenterology outpatient clinics were recruited in this study, including 365 patients with AS, 197 patients with IBD and 230 healthy controls. ERAP1, IL-23R, STAT-3 and JAK-2) were genotyped in competitive allele-specific polymerase chain reactions.

The Assessment of Tp-e Interval and Tp-e/QT Ratio in Patients With Systemic Sclerosis.

Objectives: This study aims to investigate ventricular repolarization using T-peak to T-end (Tp-e) intervals and Tp-e/QT ratios in patients with systemic sclerosis (SSc).

Patients And Methods: Totally 65 patients (8 males, 57 females; mean age 49.8 years; range 20 to 77 years) with SSc and 63 control subjects (8 males, 55 females; mean age 49.

Association of serum KL-6 levels with interstitial lung disease in patients with connective tissue disease: a cross-sectional study.

It was aimed to evaluate KL-6 glycoprotein levels to determine if it may be a diagnostic marker for the connective tissue diseases (CTDs) predicting CTD-related interstitial lung diseases (ILDs) (CTD-ILD) development and to examine if there was a difference between patients and healthy controls. The study included 113 patients with CTD (45 CTD without lung involvement, 68 CTD-ILD) and 45 healthy control subjects. KL-6 glycoprotein levels were analyzed with ELISA in patients and the control group.

Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study.

Objective: Takayasu arteritis is a rare large vessel vasculitis with incompletely understood etiology. This study was undertaken to perform the first unbiased genome-wide association analysis of Takayasu arteritis.

Methods: Two independent cohorts of patients with Takayasu arteritis from Turkey and North America were included in our study.

Response to rituximab in a case of lupus associated digital ischemia.

We report the case of a 38-year-old female patient with systemic lupus erythematosus (SLE) and Jaccoud arthritis (JA) that sequentially developed digital ischemic lesions of the hands. In spite of follow-up treatment with glucocorticoids, immunosuppressant, antiaggregant, and potent vasodilatator agents, a serious progression to digital gangrene over a one-month period was observed. Surprisingly, her nonhealing digital lesions improved after two cycles of rituximab (RTX) administration.

Churg-Strauss syndrome: a new endotype of severe asthma? Results of 14 Turkish patients.

Introduction: Churg-Strauss syndrome (CSS) is a rare multisystem vasculitis. Considering the variation of autoimmune diseases in different races, it is of interest to determine whether any outstanding features exist for Turkish patients with CSS.

Objective: The aim of this study was to evaluate the clinical and serological features of the disease, the treatment, and long-term follow-up details, and to investigate possible etiological factors of Turkish CSS patients.

TIR-domain-containing adaptor protein gene TIRAP S180L polymorphism is not increased in Behçet's disease patients in two ethnic cohorts.

Objectives: The single nucleotide polymorphism (SNP) of TIRAP (Serine 180 leucine, S180L) that is shown to be associated with Behçet's disease (BD) in a European-derived cohort, but not in Middle Eastern patients is investigated in two other populations.

Methods: Two cohorts of BD patients and controls from Turkey (n=797) and Italy (n=633) were genotyped by sequence specific primer-polymerase chain reaction (SSP-PCR) or TaqMan q-PCR assays.

Results: Genotype and allele frequencies in TIRAP S180L (rs8177374) were not different between BD patients and controls in either ethnicity.

Spontaneous Coronary Artery Dissection in a Male Patient with Takayasu's Arteritis and Antiphospholipid Antibody Syndrome.

We present a case of a 34-year-old male who presented to the emergency ward with fever and abdominal pain. The diagnosis of Takayasu's arteritis and also antiphospholipid syndrome was made during an imaging workup of deep-vein thrombosis. A spontaneous coronary artery dissection was revealed in coronary CT angiography requested for chest pain and dyspnea.

Behçet's Disease and Intracardiac Thrombosis: A Report of Three Cases.

We present three patients with Behçet's disease associated with intracardiac thrombus and pulmonary vascular involvement. One of these patients had also Budd-Chiari syndrome. All patients were treated with corticosteroid plus monthly intravenous cyclophosphamide as first line treatment and with no recurrences.

Identification of multiple genetic susceptibility loci in Takayasu arteritis.

Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association with HLA-B*52. We genotyped ~200,000 genetic variants in two ethnically divergent Takayasu arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip).

Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease.

Behçet's disease is an inflammatory disease characterized by recurrent oral and genital ulcers and significant organ involvement. Localizing the genetic association between HLA-B*51 and Behçet's disease and exploring additional susceptibility loci in the human leukocyte antigen (HLA) region are complicated by the strong linkage disequilibrium in this region. We genotyped 8,572 variants in the extended HLA locus and carried out imputation and meta-analysis of 24,834 variants in 2 independent Behçet's disease cohorts from 2 ancestry groups.

Takayasu's arteritis is associated with HLA-B*52, but not with HLA-B*51, in Turkey.

Introduction: HLA-B*51 and HLA-B*52 are two close human leukocyte antigen (HLA) allele groups with minor amino acid differences. However, they are associated with two different vasculitides (HLA-B*51 in Behçet's disease and HLA-B*52 in Takayasu's arteritis (TAK)) and with major clinical and immunological differences. In this study, we aimed to screen a large cohort of TAK patients from Turkey for the presence of HLA-B*51 and HLA-B*52 as susceptibility and severity factors.