Co-existance of Juvenil Ankylosing Spondylitis with Familial Mediterranean Fever and Takayasu’s Arteritis: A Case Report

Juvenile ankylosing spondylitis (JAS) coexisting with Familial Mediterranean Fever (FMF) or Takayusu’s arteritis (TA) together with JAS have been reported in the literature. However, co-existance of these three diseases has not been reported yet. Here, we present a 17-year- old female patient presenting with JAS who was subsequently diagnosed with FMF and TA. To the best of our knowledge, this is the first case of JAS presenting with FMF and TA

Beyond expectations: disease duration and psychological burden in psoriatic arthritis

This study aims to investigate the relationship between disease duration and psychological burden in PsA and to identify the risk factors associated with psychological distress. Patients with PsA who met CASPAR classification criteria enrolled by Turkish League Against Rheumatism (TLAR)-Network. Patients were categorized into three groups based on disease duration: early stage (< 5 years), middle stage (≥ 5, < 10 years), and late stage (≥ 10 years). All patients underwent clinical and laboratory assessment using standardized protocol and case report forms. The associations between psychological variables and clinical parameters were assessed by a multivariate analysis. Of the 1113 patients with PsA (63.9% female), 564 (%50.7) had high risk for depression and 263 (%23.6) for anxiety. The risk of psychological burden was similar across all PsA groups, and patients with a higher risk of depression and anxiety also experienced greater disease activity, poorer quality of life, and physical disability. Multivariate logistic regression revealed that female gender (OR = 1.52), PsAQoL (OR = 1.13), HAQ (OR = 1.99), FiRST score (OR = 1.14), unemployment/retired (OR = 1.48) and PASI head score (OR = 1.41) were factors that influenced the risk of depression, whereas the current or past enthesitis (OR = 1.45), PsAQoL (OR = 1.19), and FiRST score (OR = 1.26) were factors that influenced the risk of anxiety. PsA patients can experience a comparable level of psychological burden throughout the course of their disease. Several socio-demographic and disease-related factors may contribute to mental disorders in PsA. In the present era of personalized treatment for PsA, evaluating psychiatric distress can guide tailored interventions that improve overall well-being and reduce disease burden

Association of MDR1 Gene Polymorphism in Patients With Temporal Lobe Epilepsy

Amaç: Epilepsi hastalarının %30-40'ı medikal tedaviye dirençlidir. İlaçları intrasellüler bölgeden ekstrasellüler bölgeye uzaklaştırarak etki eden çoklu ilaç direnci 1 geninin (multidrug resistans 1: MDR1), ilaç direncinden sorumlu en önemli genetik mekanizma olduğu düşünülmektedir. Yöntem: 59'u mezyal temporal skleroz (MTS), 44'ü kriptojenik etiyolojili toplam 103 temporal lob epilepsili hasta ve 174 sağlıklı kontrol örneklerinde polimeraz zincir reaksiyonu ve restriksiyon fragmanı uzunluk polimorfizmi yöntemi ile MDR1 geni C3435T polimorfizminin varlığı ve hastalık bulgularının ilişkisi araştırılmıştır. Bulgular: Tüm hasta grubunda ve MTS olmayan hastalarda CT genotipi, kontrol grubuna göre anlamlı düzeyde düşük bulunmuştur (p=0,004 ve p=0,008). Her iki hasta grubu karşılaştırıldığında MTS olmayan grupta CT genotipinin daha düşük olduğu belirlenmiştir (p=0,0008). Status epileptikus öyküsü olan hastalarda anlamlı olarak TT genotipinin daha sık olduğu dikkati çekmiştir (p=0,027). Diğer klinik bulgular ile MDR1 genotipi arasında bağlantı bulunmamıştır. Sonuç: Hasta ve kontrol grupları arasında heterozigot CT genotipinin sıklığı farklı bulunmakla birlikte, klinik özellikler açısından bir bağlantı kurulamamıştır. Bu durum toplumsal farklılıkların yanısıra ilaca direnç mekanizmasında MDR geni dışında başka faktörlerin de rol oynadığını düşündürmektedir. Mutasyon analizinin çalışılması bu hastalığın patofizyolojisinin anlaşılmasında önem taşıyacaktır.Objective: 30-40% of patients with epilepsy have resistance to medical treatment. The major genetic mechanism postulated to underlie this resistance known as Multidrug resistance gene 1 (MDR1), transports the drugs from intracellular to extracellular area. Methods: 103 temporal lobe epilepsy patients' (59 of the patients had mesial temporal sclerosis and 44 patients had cryptogenic etiology) and 174 healthy controls' samples were evaluated for MDR1 gene (C3435T) polymorphism by polimerase chain reaction and restriction fragment length polymorphisms. Results: In all patients and TLE patients without MTS, CT genotype was found to be lower than that of the control group (p=0,004 ve p=0,008). CT genotype was statistically lower in the group without MTS than the group with MTS (p=0,0008). It is noted that the patients with a history of status epilepticus had significantly higher MDR1 gene TT genotype (p=0,027). There was no correlation between other clinical features and MDR1 genotype. Conclusions: Despite the difference of heterozygote CT genotype frequency in patient and control populations, no correlation between clinical features and MDR1 genotype was found. This data may show diverse genetic background of different populations. Studies of mutation analysis will play an important role to understand the pathophysiology of this disease

Association of pain and clinical factors on disability and quality of life in systemic sclerosis: A cross-sectional study from Turkish League Against Rheumatism Network

Objectives: In this study, we aimed to evaluate the factors associated with disability and quality of life (QoL) in Turkish patients with systemic sclerosis (SSc). Patients and methods: Between January 2018 and January 2019, a total of 256 SSc patients (20 males, 236 females; mean age: 50.9±12.4 years; range, 19 to 87 years) who were diagnosed with SSc were included in the study. Disability and health-related QoL (HRQoL) were evaluated by the Health Assessment Questionnaire (HAQ), scleroderma HAQ (SHAQ), Duruöz Hand Index (DHI), and Short Form-36 (SF-36). Linear regression analysis methods were used to describe factors associated with disability and QoL of the patients. Results: All disability scores were higher and HRQoL scores were lower in diffuse cutaneous SSc patients compared limited cutaneous SSc, and differentiations were significant (p=0.001 and p=0.007). In multiple regression, pain (VAS) was the strongest predictor for high disability and low QoL scores (p<0.001) as HAQ (β=0.397, 0.386, 0.452), SHAQ (β=0.397, 0.448, 0.372), DHI (β=0.446, 0.536, 0.389), PCS (β=-0.417,-0.499,-0.408) and MCS (β=-0.478,-0.441,-0.370) in combined, lcSSc and dcSSc patients respectively. The factors associated with high disability and low QoL scores were forced vital capacity for HAQ (β=-0.172, p=0.002) and SF-36 PCS (β=0.187, p=0.001); disease duration for HAQ (β=0.208, p<0.001), DHI (β=0.147, p=0.006), and SF-36 PCS (β=-0.134, p=0.014); 6-minute walk test for HAQ (β=-0.161, p=0.005) and SF-36 PCS (β=0.153, p=0.009); and modified Rodnan skin score for SHAQ (β=0.250, p<0.001) and DHI (β=0.233, p<0.001) in SSc patients. Diffusing capacity of the lungs for carbon monoxide for HAQ (β=-0.189, p=0.010) and SHAQ (β=-0.247, p=0.002); erythrocyte sedimentation rate for DHI (β=0.322, p<0.001); age for SF-36 PCS (β=-0.221, p=0.003) and body mass index for SF-36 PCS (β=-0.200, p=0.008) and MCS (β=-0.175, p=0.034) were the other variables associated with high disability or low QoL scores in SSc subsets. Conclusion: Clinicians should consider the management of the pain and its sources as a key to improve better functional state and quality of daily life in SSc

Clinical characteristics, disease activity, functional status, and quality of life results of patients with psoriatic arthritis using biological and conventional synthetic disease-modifying antirheumatic drugs

Objectives: This study aims to compare the clinical characteristics, disease activity, and quality of life (QoL) of patients with psoriatic arthritis (PsA) who use biological and conventional synthetic disease-modifying antirheumatic drugs (DMARDs) in a nationwide cohort throughout Turkey. Patients and methods: A total of 961 patients (346 males, 615 females; mean age: 46.9±12.2 years; range, 18 to 81 years) with PsA according to the classification criteria for PsA were included in the study. The patients’ demographic and clinical characteristics, physical examination results, Disease Activity Score 28, Disease Activity Index for Psoriatic Arthritis and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Psoriasis Area and Severity Index, Bath Ankylosing Spondylitis Functional Index, Bath Ankylosing Spondylitis Metrology Index, Hospital Anxiety and Depression Scale, Health Assessment Questionnaire, Psoriatic Arthritis Quality of Life (PsAQoL), and Short Form-36 scores were all recorded. Results: Of the patients, 23% underwent biological DMARD (bDMARD) monotherapy, 42% underwent conventional synthetic DMARD (csDMARD) monotherapy, 10% underwent a csDMARD combination therapy, and 10% underwent a combination bDMARD and csDMARD treatment. The Visual Analog Scale (VAS pain), patient global assessment, physician global assessment, and BASDAI scores were found to be lower among patients using combination treatment of csDMARD and bDMARD, while the swollen joint count was found to be lower among patients using bDMARD. The PsAQoL score was found to be the lowest among patients not using any medication and the highest among those using bDMARD. Conclusion: In our study, patients with PsA were successfully treated with both csDMARD and bDMARD monotherapy. When the biological treatments used for PsA were compared with csDMARD, it was found that biological treatments had a positive effect on both disease activity and the QoL. Combinations of csDMARDs and bDMARDs were preferred in cases in which the disease activity was still high or increased. Because of the highest efficacy of the combined treatment, we highly suggest increasing the number of patients on combined treatment

Enthesitis and its relationship with disease activity, functional status, and quality of life in psoriatic arthritis: A multi-center study

Psoriatic arthritis (PsA) is an inflammatory arthritis with distinct phenotypic subtypes. Enthesitis is assigned as a hallmark of the disease, given its significant relations to disease activity and quality of life. Our objective is to evaluate the prevalence of enthesitis and its association with some clinical parameters, particularly quality of life, using data from a national registry. Patients with PsA meeting ClASsification criteria for Psoriatic Arthritis (CASPAR) were enrolled by means of a multi-centre Turkish League Against Rheumatism (TLAR) Network Project. The following information was recorded in web-based case report forms: demographic, clinical and radiographic data; physical examination findings, including tender and swollen joint counts (TJC and SJC); nail and skin involvement; Disease Activity Score-28 for Rheumatoid Arthritis with Erythrocyte Sedimentation Rate (DAS 28-ESR); Bath Ankylosing Spondylitis Disease Activity Index (BASDAI); Maastricht Ankylosing Spondylitis Enthesitis Score (MASES); Psoriasis Area Severity Index (PASI); Bath Ankylosing Spondylitis Radiology Index for the spine (BASRI-s); Health Assessment Questionnaire (HAQ); Bath Ankylosing Spondylitis Functional Index (BASFI); Health Assessment Questionnaire for the spondyloarthropathies (HAQ-s); Psoriatic arthritis quality of Life scale (PsAQoL); Short Form 36 (SF-36); Hospital Anxiety Depression Scale (HADS); Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F); and Fibromyalgia Rapid Screening Tool (FiRST) scores. The patients were divided into two groups, namely with and without enthesitis, based on the triple Likert-type physician-reported statement of ‘active enthesitis’, ‘history of enthesitis’ or ‘none’ in the case report forms. Patients with active enthesitis were compared to others in terms of these clinical parameters. A total of 1130 patients were enrolled in this observational study. Of these patients, 251 (22.2%) had active enthesitis according to the clinical assessment. TJC, HAQ-s, BASDAI, FiRST and PsAQoL were significantly higher whereas the SF-36 scores were lower in patients with enthesitis (p < 0.05). Chronic back pain, dactylitis, and tenosynovitis were more frequent in the enthesopathy group (59.4%/39%, 13.1%/6.5% and 24.7%/3.4%, respectively). Significant positive correlations between the MASES score and the TJC, HAQ, DAS 28-ESR, BASDAI, FiRST and PsAQoL scores, and a negative correlation with the SF-36 score were found. When linear regression analysis was performed, the SF-36 MCS and PCS scores decreased by − 9.740 and − 11.795 units, and the FiRST scores increased by 1.223 units in patients with enthesitis. Enthesitis is an important involvement of PsA with significant relations to quality of life determined with PsAQoL and SF-36 scores. Our study found higher frequency of dactylitis and chronic back pain, and worse quality of life determined with SF-36 and PsAQoL scores in patients with enthesitis

The impact of fatigue on patients with psoriatic arthritis: A multi-center study of the TLAR-network

Fatigue is a substantial problem in patients with psoriatic arthritis (PsA) that needs to be considered in the core set of domains. This study aimed to evaluate fatigue and its relationship with disease parameters, functional disability, anxiety, depression, quality of life, and correlation with disease activity as determined by various scales. A total of 1028 patients (677 females, 351 males) with PsA who met the CASPAR criteria were included [Turkish League Against Rheumatism (TLAR) Network multicenter study]. The demographic features and clinical conditions of the patients were recorded. Correlations between fatigue score and clinical parameters were evaluated using the Disease Activity Score 28 (DAS28), Disease Activity in Psoriatic Arthritis (DAPSA), Clinical DAPSA (cDAPSA), Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), the Fibromyalgia Rapid Screening Tool (FiRST), minimal disease activity (MDA), and very low disease activity (VLDA). Fatigue was assessed with the Functional Assessment of Chronic Illness Therapy (FACIT-F) and a 10-point VAS (VAS-F). The mean age of the patients was 47 (SD: 12.2) years, and the mean disease duration was 6.4 (SD: 7.3) years. The mean VAS-F score was 5.1 (SD: 2.7), with fatigue being absent or mild, moderate, and severe in 12.8%, 24.6%, and 62.5% of the patients, respectively. Fatigue scores were significantly better in patients with DAS28 remission, DAPSA remission, cDAPSA remission, MDA, and VLDA (p < 0.001). Fatigue scores significantly increased with increasing disease activity levels on the DAS28, DAPSA, and cDAPSA (p < 0.001). VAS-F scores showed correlations with the scores of the BASDAI, BASFI, PsAQoL, HAD-A, FiRST, pain VAS, and PtGA. FiRST scores showed fibromyalgia in 255 (24.8%) patients. FACIT-F and VAS-F scores were significantly higher in patients with fibromyalgia (p < 0.001). In regression analysis, VLDA, BASDAI score, FiRST score, high education level, HAD-Anxiety, and BMI showed independent associations with fatigue. Our findings showed that fatigue was a common symptom in PsA and disease activity was the most substantial predictor, with fatigue being less in patients in remission, MDA, and VLDA. Other correlates of fatigue were female gender, educational level, anxiety, quality of life, function, pain, and fibromyalgia

Familial Mediterranean fever: perspective on female fertility and disease course in pregnancy from a multicenter nationwide network.

The aim of this study was to analyze the pregnancy process, especially the Familial Mediterranean fever (FMF) disease course and attack types during pregnancy, and to examine the relationship between disease-related factors and female infertility in FMF patients. The study, which was planned in a multicenter national network, included 643 female patients. 435 female patients who had regular sexual intercourse were questioned in terms of infertility. Pregnancy and delivery history, FMF disease severity and course during pregnancy were evaluated. The relationship between demographic and clinical findings, disease severity, genetic analysis results and infertility was investigated. 401 patients had at least 1 pregnancy and 34 patients were diagnosed with infertility. 154 patients had an attack during pregnancy. 61.6% of them reported that attacks during pregnancy were similar to those when they were not pregnant. The most common attack symptoms were fever, fatigue and abdominal pain-peritonitis (96%, 87%, and 83%, respectively) in the pregnancy period. The disease-onset age, disease activity score, gene mutation analyses, and regular colchicine use (> 90%) were similar between the fertile and infertile groups, while the frequency of previous appendectomy and alcohol consumption rates were higher in individuals with infertility. Our results indicated no significant change in the frequency and severity of attacks during pregnancy. The low rate of infertility (7.8%) in our patients was noted. It has been suggested that the risk of FMF-related infertility may not be as high as thought in patients who are followed up regularly and received colchicine

Familial mediterranean fever: assessment of clinical manifestations, pregnancy, genetic mutational analyses, and disease severity in a national cohort

The aims of this study were to investigate the main clinical and laboratory features, including pregnancy and genetic analysis, of Turkish Familial Mediterranean Fever (FMF) patients and to analyze the relationships between genotypic features, age of disease onset, clinical findings, and disease severity. A study was planned within a national network of 22 different centers. Demographics, clinical and laboratory findings, attack characteristics, drugs, pregnancy and birth history, disease severity, and gene mutation analyses were evaluated. Disease severity, assessed using a scoring system developed by Pras et al., was evaluated in relation to gene mutations and age of disease onset. A total of 979 patients (643 females and 336 males; mean age: 35.92 +/- 11.97 years) with FMF were included in the study. Of a total of 585 pregnancies, 7% of them resulted in preterm birth and 18.1% resulted in abortions. During pregnancy, there was no FMF attack in 61.4% of patients. Of the MEditerranean FeVer (MEFV) mutations, 150 (24.3%) cases were homozygous, 292 (47.3%) cases were heterozygous, and 175 (28.4%) were compound heterozygous. Patients with homozygous gene mutations had more severe disease activity, earlier age of disease onset, higher rates of joint and skin involvement, sacroiliitis, and amyloidosis. Patients with compound heterozygous genotype displayed severe disease activity in close resemblance to patients with homozygous mutation. In addition, patients with compound heterozygous mutations had higher rates of protracted febrile myalgia and elevated fibrinogen levels. In 63.9% of compound heterozygous patients, age of onset was < 20 years, with greater disease severity, and high rates of attack frequency and colchicine resistance. Our results suggest that indicators for disease severity include early onset of disease and homozygous gene mutations. Furthermore, patients with compound heterozygous mutations displayed significant presentations of severe disease activity

Impact of obesity on quality of life, psychological status, and disease activity in psoriatic arthritis: a multi-center study

This article aims to evaluate the possible effect of obesity on quality of life, psychological status, and other clinical variables in Psoriatic arthritis (PsA). PsA patients have been recruited by the Turkish League Against Rheumatism-Network from various centers in Turkey in this cross-sectional study. Patients with a body mass index (BMI) >= of 30 kg/m(2) were considered obese. Differences among patients with regard to obesity status were assessed with health-related quality of life measures (PsA Quality of Life Questionnaire [PsAQoL]), psychological status (Hospital Anxiety and Depression Scale [HADS]), and disease activity parameters (the Disease Activity index for PSoriatic Arthritis [DAPSA], Disease Activity Score 28-C-reactive protein [DAS28-CRP], Bath Ankylosing Spondylitis Disease Activity Index [BASDAI], Psoriasis Area and Severity Index [PASI]), physical functions (Ankylosing Spondylitis Functional Index [BASFI], Health Assessment Questionnaire [HAQ], and Health Assessment Questionnaire for the spondyloarthropathies [HAQ-S]). Pain was assessed using visual analog scale of pain (VAS-P), and fatigue was evaluated using visual analog scale of fatigue (VAS-F) and Functional Assessment of Chronic Illness Therapy (FACIT). A total of 1033 patients with PsA, 650 (62.9%) non-obese and 383 (37.1%) obese were included in the study. The PsAQoL, HADS-Anxiety, HADS-Depression, DAPSA, DAS28-CRP, BASDAI, BASFI, HAQ and HAQ-S scores of the obese group were higher than the non-obese group (p < 0.05). VAS-P and PASI scores were similar between group of patients with and without obesity. Obese patients had higher median scores of VAS-F and FACIT than non-obese patients (p < 0.05). Linear regression analysis showed that BMI affects the quality of life, depression, and disease activity. Consequently, obesity has significant associations with higher disease activity, lower QoL, risk of anxiety, depression, and fatigue. Therefore, obesity should also be taken into account in the management of PsA patients