Assessing the quality of forced vital capacity measurement in patients with systemic sclerosis.

INTRODUCTION: Forced vital capacity (FVC) is an important tool for monitoring lung functions in patients with systemic sclerosis (SSc). However, several disease manifestations may influence the quality of FVC test in SSc. We aimed to assess the quality of FVC measurements according to current guidelines in patients with SSc and determine the factors that may affect results. METHOD: In this cross-sectional study, SSc patients and age/sex matched controls underwent spirometry. Quality of FVC measurements were graded according to updated American Thoracic Society (ATS) and European Respiratory Society (ERS) guidelines. Demographics, clinical features and parameters that may affect FVC test quality were compared between SSc patients with high and low quality FVC test. RESULTS: 98 SSc patients (90 female) and 100 controls were included. The rate of high quality FVC measurement in SSc patients was significantly lower in SSc patients compared to controls. (80 % vs 60.2 % p = 0.002). Among SSc patients; diffuse disease, ILD, anti-topoisomerase 1 antibody positivity, immunosuppressive use, flexion contractures of hands, reduced mouth opening and decreased chest expansion were more frequent in patients with low quality FVC (p < 0.05 for all). Patients with muscle weakness and medium/high risk of malnutrition were also numerically higher in low quality FVC group. Presence of more than one condition that may affect FVC quality was significantly higher among patients with low quality FVC. CONCLUSION: A significant percent of SSc patients had low quality FVC measurement. Physicians should be aware of this point while interpreting FVC test results especially in SSc patients with more than one condition that may affect the quality of the test.

Assessment of venous disease with different venous disease specific scales in Behçet's disease patients with deep vein thrombosis.

Objectives: Post-thrombotic syndrome (PTS) is a frequent and important consequence of deep vein thrombosis (DVT) for Behcet`s disease (BD) patients. Although various clinical scales are used to diagnose PTS, Villalta scale was accepted as the standard tool to diagnose and grade the severity of PTS. Poor quality of life (Qol) in the general population was defined for patients with PTS, however, studies in BD patients with PTS is limited. Our aim was to compare the performance of different scales to assess venous disease in BD patients with a history of DVT and to assess the relationship with quality of life.Methods: Patients with BD (n = 194, M/F:157/37, age:39.1 ± 9.5 years) with a DVT history were investigated. Villalta, VCSS,CEAP scale and SF 36,Veines scales were used to assess venous disease and QoL respectively.Results: Among BD patients, 120 (61.9 %) patients were classified as having PTS by Villalta and of patients 18% had severe PTS. Half of patients with CEAP score <4 were classified as having PTS. Also, 42% of patients with CEAP>4 and almost two third of VCSS classified severe CVD patients was grouped in severe PTS by Villalta scale. VCSS and Villalta classified PTS patients had decreased disease specific and general Qol scores compared to the patients without PTS. Also, severe PTS group (by VCSS) had decreased veines QoL scores and PCS compared to mild/moderate group.Conclusion: BD patients with DVT have a high risk of PTS. Our results show that both Villalta scale and VCSS should be used to assess venous disease BD patients with DVT. However, VCSS classified severity of PTS can show better correlation with venous disease -specific QoL.

Clinical characteristics and disease course before and after SARS-CoV-2 infection in a large cohort of systemic sclerosis patients.

Background/aim: The objective of this study is to evaluate the clinical presentations and adverse outcomes of Coronavirus Disease 2019 (COVID-19) in patients with systemic sclerosis (SSc) and assess the impact of SSc features on the clinical course of COVID-19. Materials and methods: In this multicenter, retrospective study, SSc patients with COVID-19 were included. Clinical features of SSc, along with detailed COVID-19 data, were extracted from medical records and patient interviews. Results: The study included 112 patients (mean age 51.4 ± 12.8 years; 90.2% female). SSc-associated interstitial lung disease (ILD) was evident in 57.1% of the patients. The findings revealed hospitalization in 25.5%, respiratory support in 16.3%, intensive care unit admission in 3.6%, and a mortality rate of 2.7% among SSc patients with COVID-19. Risk factors for respiratory failure, identified through univariate analysis, included ILD (OR: 7.49, 95% CI: 1.63-34.46), ≥1 comorbidity (OR: 4.55, 95% CI: 1.39-14.88), a higher physician global assessment score at the last outpatient visit (OR 2.73, 95% CI: 1.22-6.10), and the use of mycophenolate at the time of infection (OR: 5.16, 95 %CI: 1.79-14.99). Notably, ≥1 comorbidity emerged as the sole significant predictor of the need for respiratory support in COVID-19 (OR: 5.78, 95% CI: 1.14-29.23). In the early post-COVID-19 period, 17% of patients reported the progression of the Raynaud phenomenon, and 10.6% developed new digital ulcers. Furthermore, progression or new onset of dyspnea and cough were detected in 28.3% and 11.4% of patients, respectively. Conclusion: This study suggests a potential association between adverse outcomes of COVID-19 and SSc-related ILD, severe disease activity, and the use of mycophenolate. Additionally, it highlights that having comorbidities is an independent risk factor for the need for respiratory support in COVID-19 cases.

Survival in systemic sclerosis associated pulmonary arterial hypertension in the current treatment era-results from a nationwide study.

INTRODUCTION: Pulmonary arterial hypertension (PAH) is a leading cause of mortality in systemic sclerosis (SSc). This nationwide study aims to describe real world treatment characteristics and assess survival rates of patients with SSc-PAH. METHODS: In this retrospective cohort study, patients with SSc-PAH were identified from Turkish Ministry of Health National Electronic Database (from January 2016 to September 2022), using ICD-10 codes. Data on demographics, treatment characteristics, and death was collected. Kaplan-Meier curves were used to calculate cumulative probabilities of survival at 1, 3, and 5 years. RESULTS: Five hundred forty-seven patients (90.7% female) with SSc-PAH were identified. Median age at PAH diagnosis was 59.9 (50.0-67.4) years. During a median follow-up duration of 3.2 (1.5-4.8) years, 199 (36.4%) deaths occurred. Estimated survival rates at 1, 3, and 5 years were 90.2%, 73.2%, and 56.6%, respectively. Survival was similar among patients with and without interstitial lung disease (p = 0.20). Patients who used immunosuppressives had better survival than those who did not (p < 0.001). No difference was observed in survival rates according to initial PAH-specific treatment regimen (monotherapy or combination) (p = 0.49). CONCLUSION: Compared to most of historical cohorts, higher survival rates for SSc-PAH were observed in this study. Early diagnosis of PAH may have contributed to these findings. The impact of immunosuppressive therapy on prognosis of SSc-PAH needs to be further investigated in prospective studies. Key Points • Early diagnosis is pivotal for better outcomes in SSc-PAH. • Implementation of PAH treatment guidelines in routine clinical practice is still poor and should be improved. • Effect of immunosuppressive therapies on disease course has to be defined in SSc-PAH.

The effects of topical mafenide acetate application on skin graft survival in bacterial contaminated wounds.

BACKGROUND: Infection related skin graft loss still remains as a common problem even with the use of systemic antibiotics. Mafenide acetate (Sulfamylon) is a topical antimicrobial agent with a wide spectrum of antimicrobial activity. Since mafenide acetate has the ability to penetrate the burn eschar, it was preferred in the treatment of infected full-thickness skin grafts. We investigated the effects of topical Mafenide acetate application on graft survival in an experimental model of contaminated wound beds in rats. MATERIALS AND METHODS: Twenty-eight male Wistar albino rats were included in the study. A full-thickness skin graft (FTSG) was harvested from the back region and the wound bed was inoculated with Pseudomonas aeruginosa. The same FTSG was sutured in place. Rats were divided into 4 groups. In groups 1 and 2, wound care was performed with gauze and hydrofiber dressings respectively. In groups 3 and 4, Mafenide acetate soaked hydrofiber and Mafenide acetate soaked gauze dressings were used respectively. The dressings were closed for 4 days in all groups. The rats in groups 1 and 2 received dressing changes every day. The dressing of the rats in group 3 was changed once every two days. The dressing of the rats in group 4 was changed twice a day. RESULTS: In groups 3 and 4, the graft survival rates decreased significantly from day 7 to day 14 in all groups. Histologically, detachment at the dermoepidermal junction, disorganization of collagen along with increased numbers of fibroblasts and a decrease in graft adhesion to the wound bed were determined in Mafenide acetate-treated groups. CONCLUSION: In rats treated with Mafenide acetate, graft survival was higher on day 7 and gradually decreased towards day 14. Application of a 2.5% solution of Mafenide acetate longer than 7 days on inoculated skin grafts in a rat model causes significant cytotoxicity and graft loss.

Extended autoantibody panel in Turkish patients with early-stage systemic sclerosis: Coexpressions and their influences on clinical phenotypes.

BACKGROUND/AIM: To investigate the frequency and clinical relevance of an extended autoantibody profile in patients with systemic sclerosis (SSc). MATERIALS AND METHODS: In this cross-sectional study, serum from 100 consecutive patients was subjected to indirect immunofluorescence (IIF) (HEp-20-10/primate liver mosaic) and Systemic Sclerosis Profile by EUROIMMUN to evaluate anti-nuclear antibodies (ANA) and autoantibodies against 13 different autoantibodies in patients with SSc less than 3 years. RESULTS: Ninety-three of 100 patients were positive for ANA by IIF. Fifty-three patients showed single positivity, 26 anti-topoisomerase antibodies (anti-Scl70 ab), 16 anticentromere antibodies (ACAs), six anti-RNA polymerase III antibodies (anti-RNAPIII ab), one anti-Ku antibody, one anti-PM/Scl100 antibody, two anti-PM/Scl75 antibodies, one anti-Ro52 antibody, whereas 32 patients had multiple autoantibody positivities. Among classic SSc-specific autoantibodies, anti-Scl70 and anti-RNAPIII abs showed the highest cooccurrence (n = 4). One patient was simultaneously positive for anti-RNAPIII ab and ACA, and one was positive for ACA and anti-Scl70 ab. The clinical features were not statistically different between single and multiple autoantibody-positivity for classic SSc-specific autoantibodies (ACA, anti-Scl70 ab, and anti-RNAPIII ab), except for digital ulcer in the multiantibody positive ACA group (p = .019). CONCLUSION: Based on our results, coexpression of autoantibodies is not uncommon in SSc patients. Although autoantibodies specific to SSc in early disease show generally known clinical features, it remains to be investigated how the coexpression of autoantibodies will affect clinical presentation.

Primary Systemic Vasculitides as a Cause of Group IV Pulmonary Hypertension.

The primary systemic vasculitides are rare diseases characterized by vessel wall inflammation. Isolated pulmonary vasculitis, large-vessel vasculitis, and Behçet's disease are mimickers of chronic thromboembolic pulmonary hypertension (CTEPH); group IV pulmonary hypertension (PH) can occur as a devastating complication in the course of these diseases. Pulmonary endarterectomy, balloon angioplasty, anticoagulation and pulmonary vasodilator agents are the main treatment options for CTEPH. There is no specific recommendation for the treatment of patients having group IV PH due to primary systemic vasculitides. We reviewed herein data about group IV PH due to primary systemic vasculitides.

Does decision tree analysis predict oral ulcer activity-related factors in patients with Behçet's syndrome?

OBJECTIVES: The study aimed to identify the interactions among treatment protocols and oral ulcer activity related factors in patients with Behçet's syndrome (BS) using the Classification and Regression Tree (CART) algorithm. METHODS: In this cross-sectional study, 979 patients with BS were included from16 centres in Turkey, Jordan, Brazil and the United Kingdom. In the CART algorithm, activities of oral ulcer (active vs. inactive), genital ulcer (active vs. inactive), cutaneous involvement (active vs. inactive), musculoskeletal involvement (active vs. inactive), gender (male vs. female), disease severity (mucocutaneous and musculoskeletal involvement vs. major organ involvement), smoking habits (current smoker vs. non-smoker), tooth brushing habits (irregular vs. regular), were input variables. The treatment protocols regarding immunosuppressive (IS) or non-IS medications were the target variable used to split from parent nodes to purer child nodes in the study. RESULTS: In mucocutaneous and musculoskeletal involvement (n=538), the ratio of IS use was higher in patients with irregular toothbrushing (ITB) habits (27.1%) than in patients with regular toothbrushing (RTB) habits (14.2%) in oral ulcer activity. In major organ involvement (n=441), male patients with ITB habits were more likely treated with IS medications compared to those with RTB habits (91.6% vs. 77.6%, respectively). CONCLUSIONS: Male BS patients on IS who have major organ involvement and oral ulcer activity with mucocutaneous and musculoskeletal involvement have irregular toothbrushing habits. Improved oral hygiene practices should be considered to be an integral part for implementing patient empowerment strategies for BS.

Treatment of systemic sclerosis-associated digital ulcers: recommendations of the Turkish Society for Rheumatology.

OBJECTIVES: Digital ulcers (DUs) are associated with a significant burden in systemic sclerosis (SSc) by leading to severe pain, physical disability, and reduced quality of life. This effort aimed to develop recommendations of the Turkish Society for Rheumatology (TRD) on the management of DUs associated with SSc. METHODS: In the first meeting held in December 2020 with the participation of a task force consisting of 23 rheumatologists the scope of the recommendations and research questions were determined. A systematic literature review was conducted by 5 fellows and results were presented to the task force during the second meeting. The Oxford system was used to determine the level of evidence. The preliminary recommendations were discussed, modified, and voted by the task force and then by members of TRD via e-mail invitation allowing personalised access to a web-based questionnaire [SurveyMonkey®]. RESULTS: A total of 23 recommendations under 7 main headings were formulated covering non-pharmacological measures for the prevention of DUs and pharmacological treatments including vasodilators, anti-aggregants, antibiotics, wound care, pain control, and interventions including sympathectomy, botulinum toxin, and surgery. Risk factors, poor prognostic factors, prevention of DU and adverse effects of medical treatments were reported as 4 overarching principles. CONCLUSIONS: These evidence-based recommendations for the management of SSc-associated DUs were developed to provide a useful guide to all physicians who are involved in the care of patients with SSc, as well as to point out unmet needs in this field.

Pulmonary hypertension in Behçet's disease: echocardiographic screening and multidisciplinary approach.

BACKGROUND: Little is known about the prevalence and causes of pulmonary hypertension (PH) in Behçet's disease (BD). This study was conducted to determine the prevalence and causes of PH in BD. METHODS: In this descriptive study, we screened 154 patients with BD for PH using transthoracic echocardiography between February 2017 and October 2017. An estimated systolic pulmonary arterial pressure (sPAP ≥ 40 mmHg) was used as the cutoff value to define PH. Patients with BD were categorized into 5 groups according to organ involvement including mucocutaneous/ articular, ocular, vascular, gastrointestinal, and neurologic involvement. Additional laboratory and imaging results were obtained from hospital file records to determine the causes of PH. RESULTS: PH was detected in 17 (11%) patients. Nine (52.9%) of these patients had group II PH (due to left heart disease), 4 (23.5%) had IV PH (due to pulmonary arterial involvement), and 1 had III PH (due to chronic obstructive lung disease). The frequency of PH was higher in BD patients with vascular involvement than those without (52.9% vs 28.5%; p = 0.04). Among 10 patients with pulmonary artery involvement (PAI) 4 (40%) had PH. Although the vascular BD group had the highest rate of PH, we observed no statistically significant difference in the frequency of PH between the predefined BD subgroups. DISCUSSION: : PH is not rare in patients with BD. The majority of BD patients with PH are in group II or IV PH. Patients with vascularinvolvement carry a higher risk for the development of PH. Monitoring BD patients with PAI should be considered for the development of group IV PH.

The impact of antiphospholipid antibodies in Takayasu arteritis.

BACKGROUND: The significance of antiphospholipid antibodies (aPL) is controversial in Takayasu arteritis (TA). This study was conducted to explore the frequency of aPL and their association with disease-related complications in TA. METHODS: : This cross-sectional study was conducted to investigate the presence of anti-cardiolipin (aCL), anti-beta 2 glycoprotein- 1(aß2G1) antibodies, and lupus anticoagulant (LA) in TA patients. TA patients admitted to the Department of Rheumatology of Hacettepe University Faculty of Medicine between December 2015 and September 2016 who fulfilled the American College of Rheumatology (ACR) classification criteria for TA were consecutively enrolled in the study. Patients were grouped according to aPL positivity and compared in terms of disease manifestations, type of vascular involvement at diagnosis, and vascular complications/interventions attributable to TA. RESULTS: Fifty-three TA (49 female) patients were enrolled in the study. We detected 9 (16.9%) patients with IgM and/or IgG aß2G1 and/or LA positivity. There were no patients with positive aCL. All aß2G1 titers were low. There were no differences in terms of symptoms, signs, type of vascular involvement, the number of patients with disease-related complications or vascular interventions/surgery between aPL (+) and aPL(-) groups (p > 0.05 for all). The number of patients with thrombotic lesions was similar between the groups (p > 0.05). There were no patients with a history of venous thrombosis or on anticoagulant treatment in the aPL(+) group. Only 1 patient with IgM aß2G1 (+) had a history of pregnancy loss. DISCUSSION: Our results indicate that aPL positivity is not rare in TA. On the other hand, all aPL titers were low and no differences were found in the frequency of disease-related complications between aPL(+) and aPL(-) patient groups. Only TA patients with atypical manifestations with high suspicion of aPL-related complications should be considered to be investigated for aPL.

Association between oxygen delivery and digital ulcers in systemic sclerosis.

OBJECTIVE: Tissue hypoxia due to microvasculopathy is the main cause of digital ulcers (DUs) in systemic sclerosis (SSc). Reduced oxygen delivery (DO2) to the tissues may also contribute to the development of DU. This study was conducted to investigate the association between DO2 and DUs in patients with SSc. METHODS: In all, 111 patients and 30 healthy controls were enrolled. DO2 was calculated by using the formula; DO2 = Cardiac output × arterial oxygen saturation (SpO2) × serum haemoglobin level × 1.39 × 10. Both right index finger SpO2 measurements (index-SpO2) and highest value of SpO2 (maximum SpO2) obtained among the fingers of the subjects were used for the calculations and DO2 results were adjusted both for weight and body surface area (BSA). RESULTS: Mean DO2 was lower in SSc patients as compared to controls in all 4 different calculations but the difference was only statistically significant when using index-SpO2 and adjusting for BSA (498 mL/min/m2 vs 549 mL/min/m2, p = 0.03). There was a strong positive correlation between cardiac output and DO2 calculated by using the index-SpO2 (r = 0.903; p < 0.001). Of the SSc patients, 46 (41.4 %) had DUs within the last 12 months. Patients with DUs had higher mean mRSS, lover mean FVC and more frequently diffuse disease, interstitial lung disease, anti-SCL70 antibody positivity (p < 0.05 for all). No difference was observed in DO2 among DU positive or DU negative groups by any calculation (p > 0.05 for all). CONCLUSIONS: DO2 in SSc patients seems to be lower than healthy controls. However, DO2 is similar between the patients with and without DUs. Our results suggest that the contribution of DO2 is negligible to the development of DU and support the major role of microvasculopathy in SSc patients with DUs.

Pleuroparenchymal fibroelastosis in systemic sclerosis-associated interstitial lung disease.

BACKGROUND: To explore the frequency and clinical associations of radiologic pleuroparenchymal fibroelastosis (PPFE) in patients with systemic sclerosis-associated interstitial lung disease (SSc-ILD). METHODS: In this single-center retrospective study, high resolution computed tomography (HRCT) images of 105 patients with SSc-ILD were examined for the presence of PPFE. Demographic, clinical, laboratory, and pulmonary function test (PFT) data of patients with and without PPFE were compared. RESULTS: PPFE was detected in 19 (18.1%) patients ('definite PPFE' in 13 and 'consistent with PPFE' in 6 patients). Patients with PPFE had higher age and longer disease duration than PPFE (-) patients (p < 0.05 for both). Radiologic usual interstitial pneumoniae (UIP) pattern was more frequent (26.3% vs. 4.7%, p = 0.01) and median force vital capacity (FVC) was lower in patients with PPFE (64% vs. 82%, p = 0.005). Spontaneous pneumothorax developed in one patient with PPFE. More deaths occured in PPFE (+) group during follow-up (31% vs. 11%, p = 0.04).

Effects of 3 months of treatment with empagliflozin on left ventricle global longitudinal strain and myocardial mechano-energetic effiency.

PURPOSE: Sodium glucose transporter-2 (SGLT-2) inhibitors are employed in the treatment of cardiovascular diseases such as heart failure and coronary artery disease. In the present study, we aimed to investigate how Empagliflozin in SGLT 2 inhibitors affects cardiac contraction and pump efficiency in patients who have Diabetes Mellitus (DM) without cardiovascular disease. METHODS: The conventional echocardiographic records and biochemical values ​​of 62 patients who had DM without a history of cardiovascular disease were evaluated before using Empagliflozin. The myocardial mechano-energetic (MME) activity and index, and global longitudinal strain (GLS) were also calculated. After 3 months of Empagliflozin use, the tests were repeated and compared with previous data. A p < .05 was considered statistically significant. RESULTS: Left ventricular GLS and MME efficiency were found to be significantly higher after treatment (-17.71 ± 2.12, -19.15 ± .71; p < .001 and 62.14 ± 18.21, 72.24 ± 26.57; p: .019). CONCLUSION: An increase was detected in left ventricular longitudinal strain and MME efficiency after using Empagliflozin for 3 months in patients with DM. This result suggests that Empagliflozin improves left ventricular pump efficiency and contraction.

Combinations of scleroderma hallmark autoantibodies associate with distinct clinical phenotypes.

Systemic sclerosis (SSc) is characterized by the presence of SSc-specific or SSc-associated antibodies (SSc-Abs): anti-topoisomerase I (ATA), anti-centromere (ACA), anti-RNA polymerase III (ARA), anti-U3RNP (U3RNP), anti-U1RNP (U1RNP), anti-PmScl (PmScl), anti-Ku (Ku) and anti-Th/To (Th/To), each being associated with specific clinical features and prognosis. The detection of more than one SSc-Abs in SSc patients is rare and only few data about these patients' clinical phenotype is available. The aim of our study was to evaluate the frequency and the disease's features associated with the presence of > 1 SSc-Abs positivity in a large cohort of SSc patients. The autoantibody profiles of 2799 SSc patients from February 2001 to June 2017 were retrospectively reviewed. Patients with > 1 SSc-Abs were identified. Clinical features were collected and compared to a large historical cohort of SSc patients with single SSc-Ab positivity. SSc patients were excluded if previously treated with rituximab, intravenous immunoglobulins or stem cell transplantation. Non-parametric tests were used for statistical analysis. Nearly 5% of SSc patients from our cohort had ≥ 2 autoantibody positivity, and 2.3% (n = 72) had ≥ 2 SSc-Abs positivity. Th e most common combination was U1RNP and ATA (35%). These patients were younger than patients with single autoantibody positivity and showed more commonly a diffuse cutaneous SSc form. They also had higher rates of overlap features compared to ATA patients. Other combinations included U1RNP and ACA (13%), ATA and ACA (7%) and U1RNP and PmScl (5%). In our study we observed that, while infrequently, SSc patients can present with a combination of two SSc-Abs and that the double positivity can influence their clinical phenotype compared to patients with single SSc-Ab positivity. The importance of re-testing SSc-Abs in patients with changing clinical phenotypes was also highlighted, as this may confer a differing risk stratification.

Impact of injectable chitosan cryogel microspherescaffolds on differentiation and proliferation of adiposederived mesenchymal stem cells into fat cells.

Difficulty in the clinical practice of stem cell therapy is often experienced in achieving desired target tissue cell differentiation and migration of stem cells to other tissue compartments where they are destroyed or die. This study was performed to evaluate if mesenchymal stem cells (MSCs) may differentiate into desired cell types when injected after combined with an injectable cryogel scaffold and to investigate if this scaffold may help in preventing cells from passing into different tissue compartments. MSCs were obtained from fat tissue of the rabbits as autografts and nuclei and cytoplasms of these cells were labeled with BrdU and PKH26. In Group 1, only-scaffold; in Group 2, only-MSCs; and in Group 3, combined stem cell/scaffold were injected to the right malar area of the rabbits. At postoperative 3 weeks, volumes of the injected areas were calculated by computer-tomography scans and histopathological evaluation was performed. The increase in the volume of the right malar areas was more in Group 3. In histopathological evaluation, chitosan cryogel microspheres were observed microscopically within the tissue and the scaffold was only partially degraded. Normal tissue form was seen in Group 2. Cells differentiated morphologically into fat cells were detected in Groups 2 and 3. Injectable chitosan cryogel microspheres were used in vivo for the first time in this study. As it was demonstrated to be useful in carrying MSCs to the reconstructed area, help cell differentiation to desired cells and prevent migration to other tissue compartments, it may be used for reconstructive purposes in the future.

Is the impact of biologic agents in enteropathic spondylitis different from other spondylitis? Real life data from the HUR-BIO Registry.

OBJECTIVES: To compare enteropathic spondylitis (ES) with psoriatic spondylitis (PS) and ankylosing spondylitis (AS), in patients on biological disease-modifying anti-rheumatic drug (bDMARD) treatment. METHODS: Patients who were enrolled in the HUR-BIO registry were included. ES patients were considered as the main study group; AS and PS patients were included as the control groups. ES was defined as patients with inflammatory bowel disease (IBD) having inflammatory back pain/spine symptoms plus radiological sacroiliitis. RESULTS: Sixty-four ES patients (46.9% female), 128 AS patients (39.1% female), and 92 PS patients (62% female) were analysed. Baseline erythrocyte sedimentation rate (ESR) was significantly higher in the ES group than in the AS group. Both the baseline ESR and C-reactive protein were also higher in the ES group compared with the PS group. Among the first bDMARD use, infliximab use was higher in the ES group than the other groups. There was a marginal significant difference between the SpA subgroups in the retention rates of the first bDMARDs (log-rank, p=0.059). Ulcerative colitis was a significant predictor for switching of bDMARDs in comparison to Crohn's disease. Regarding the treatment responses, no significant differences were relevant for the three groups in terms of 50% improvement of the initial Bath Ankylosing Spondylitis Disease Activity Index score, the Assessment of Spondyloarthritis International Society partial remission score, and 20% improvement of ASAS score. CONCLUSIONS: A large majority of enteropathic spondyloarthritis patients on bDMARD treatment had radiographic sacroiliitis. ES patients had distinctive features that distinguish them from AS and PS patients.

Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

Background/aim: Familial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations on the MEFV gene located on the short arm of chromosome 16. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with unknown clinical association which are termed as variants of uncertain significance (VUS). Here, we present clinical correlations of VUS in a large cohort of adult FMF patients from three tertiary centers located in Central Anatolia. Materials and methods: All patients were recruited from FMF in Central Anatolia (FiCA) cohort. Demographic (sex, age at disease onset) and clinical features (disease characteristics, attack frequency, mean colchicine dose, colchicine nonresponsiveness, amyloidosis, and persistent inflammation) of patients with VUS were compared with those harboring pathogenic variants. Disease severity and damage were also evaluated using international severity score for FMF (ISSF) and autoinflammatory disease damage index (ADDI), respectively. Results: Among 971 participants included, MEFV gene analysis results were available for 814 patients. Twenty-six (3.2%) patients had single heterozygous VUS and 54 (6.6%) had pathogenic/VUS complex heterozygous variants. Patients with single heterozygous VUS had similar demographic/clinical features, ISSF and ADDI scores compared to those with single heterozygous pathogenic variant (p > 0.05 for all). No difference was observed in the demographic and clinical features of patients with single heterozygous pathogenic mutation and pathogenic/VUS complex heterozygous variant (p > 0.05 for all). ISSF and ADDI scores were lower in pathogenic/VUS complex heterozygous patients than those harboring single pathogenic mutation (p = 0.006 and 0.004, respectively). Conclusion: Our findings suggest that patients with single heterozygous VUS has mild FMF phenotype similar to those with single pathogenic mutation. Pathogenic/VUS complex heterozygosity does not lead to a more severe clinical phenotype than having a single pathogenic variant.

Predictors for the risk and severity of post-thrombotic syndrome in vascular Behçet's disease.

OBJECTIVE: Deep vein thrombosis (DVT) of the lower extremities is the most common form of vascular involvement in Behçet disease (BD), frequently leading to post-thrombotic syndrome (PTS) as a disabling complication. We have described the clinical characteristics and predictors of PTS presence among patients with BD and lower extremity DVT. We also used venous Doppler ultrasound (US) examinations in our assessment. METHODS: Patients with BD (n = 205; 166 men, 39 women; age 39 ± 9.5 years) and a history of DVT were investigated. The Villalta scale was used to assess the presence and severity of PTS. Doppler US examinations were performed within 1 week of the clinical evaluation. The total number of vessels with reflux, thrombi, recanalization, and collateral vessels were calculated. RESULTS: Of the 205 patients with BD, 62% had had PTS and 18% had had severe PTS. Patients with PTS had had greater reflux (P = .054) and thrombosis (P = .02) scores compared with patients without PTS. Treatment with anticoagulation (AC), immunosuppressive (IS) therapy, or AC combined with IS drugs did not affect the occurrence of PTS. However, patients treated with IS therapy, with or without AC drugs, had a decreased incidence of severe PTS compared with the AC-only group (P = .017). Patients treated with AC plus IS agents also had increased collateral scores compared with patients treated with only IS drugs. Interferon-α use seemed to provide better recanalization scores compared with azathioprine only (1.0 [range, 0-14] vs 2.5 [range, 0-10]; P = .010). CONCLUSIONS: Patients with BD and DVT have a high risk of developing severe PTS. IS treatment decreases the development of severe PTS. AC therapy might influence the course of PTS by increasing the collateral scores, and the use of interferon-α also increased recanalization scores. Routine assessment with Doppler US examinations could be helpful in the prediction of severe PTS.