Summary: Alkaptonuria (AKU) is a rare metabolic disorder of phenylalanine catabolism that is inhe... more Summary: Alkaptonuria (AKU) is a rare metabolic disorder of phenylalanine catabolism that is inherited as an autosomal recessive trait. AKU is caused by loss‐of‐function mutations in the homogentisate 1,2‐dioxygenase (HGO) gene. The deficiency of homogentisate 1,2‐dioxygenase activity causes homogentisic aciduria, ochronosis and arthritis. We present the first molecular study of the HGO gene in Turkish AKU patients. Seven unrelated AKU families from different regions in Turkey were analysed. Patients in three families were homozygous for the R58fs mutation; another three families were homozygous for the R225H mutation; and one family was homozygous for the G270R mutation. Analysis of nine intragenic HGO polymorphisms showed that the R58fs, R225H and G270R Turkish AKU mutations are associated with specific HGO haplotypes. The comparison with previously reported haplotypes associated with these mutations from other populations revealed that the R225H is a recurrent mutation in Turkey,...
BackgroundLumbosacral transitional vertebras (LSTVs) are anatomic variations observed at L5-S1 ju... more BackgroundLumbosacral transitional vertebras (LSTVs) are anatomic variations observed at L5-S1 junction (1). The prevalence of LSVT ranges from 3.9% to 35.6%, indicating that this congenital anomaly is common in general population. LSVTs are well-defined anatomical differences causing low back pain and pelvic trauma (2). However, the studies assessing the influence of abnormal lumbosacral anatomy on low back pain and sacroiliac joints in patients with ankylosing spondylitis (AS) are scarce (3).ObjectivesThe current study aimed to investigate the frequency of LSVTs and the their effects on clinical variables in AS patients.MethodsThe study was designed as a prospective cross-sectional study. 113 patients were included in the study. Demographic data, clinical variables, laboratory results were recorded. Disease activity (ASDAS-CRP and ASDAS-ESR), patients’ functionality (BASFI, BASMI), enthesitis (Leeds enthesitis index) and quality of life (SF-36, visual analogue scale) were evaluate...
11th International Congress on Systemic Lupus Erythematosus -- SEP 02-06, 2015 -- Vienna, AUSTRIA... more 11th International Congress on Systemic Lupus Erythematosus -- SEP 02-06, 2015 -- Vienna, AUSTRIAWOS: 00036042190024
Background: Currently, biologic treatments are used effectively in patients with psoriatic arthri... more Background: Currently, biologic treatments are used effectively in patients with psoriatic arthritis (PsA). Objectives: The aim of this study was to evaluate and compare long-term drug survival of the first biologic treatments including adalimumab, certolizumab, etanercept, golimumab, infliximab, secukinumab and ustekinumab in patients with PsA. Methods: PsA patients, electronically registered at each visit in the TURKBIO database between 2011 and 2019 were included in the study. PASW 18.0 for Windows was used for statistical analysis. Drug survival rates were calculated by Kaplan Meier method. Results: 355 patients (227 women; axial PsA = 48, peripheral PsA = 307) were included in the study (Table 1). Adalimumab was the most commonly used first biologic treatment (n=125; 37.6%). The rate of drug survival was found to be 0.75 at month 60 in patients receiving the first biologic treatment (Figure 1). There was no significant difference in drug survival rate between tumor necrosis fac...
Objectives Takayasu's arteritis (TAK) is a rare vasculitis characterized by inflammation of i... more Objectives Takayasu's arteritis (TAK) is a rare vasculitis characterized by inflammation of intermediate- to large-size arteries. Although pulmonary artery involvement (PAI) is an expected finding in some TAK patients, data on non-vascular pulmonary involvement (NVPI) are limited. We aimed to investigate the frequency of NVPI, including parenchymal infiltration, nodules/cavities, pleural effusion, and haemorrhage, in TAK.Method We assembled a retrospective cohort of TAK patients from nine tertiary centres in Turkey. The demographics and clinical characteristics of patients were extracted from medical records and the imaging findings were evaluated for pulmonary manifestations.Results As of January 2021, 319 TAK patients (female/male 276/43; mean age 42.4 ± 13.5 years) were recruited. Eighty-two patients had cough and/or dyspnoea and four had haemoptysis as pulmonary symptoms. On computed tomography assessment, the overall frequency of NVPI was 7.2%; parenchymal infiltrations were present in 10 (3.1%), pleural effusion in eight (2.5%), nodules/cavities in six (1.9%), and pulmonary haemorrhage in four patients (1.3%). In the whole cohort, 10.3% of patients had pulmonary artery hypertension (PAH) and 5.6% had PAI. Among patients with PAH or PAI, the overall frequency of NVPI was significantly higher than in the rest of the group.Conclusions In this TAK cohort from Turkey, we observed NVPI in 7.2% of patients, with parenchymal infiltrations being the most common, followed by pleural effusion. Notably, NVPI was more frequent in patients with PAH or PAI. Although not as common as PAI, NVPI should be kept in mind, especially in TAK patients with PAH or PAI.
Objectives: To assess the dynamics of aortic and valve abnormalities detected by transthoracal ec... more Objectives: To assess the dynamics of aortic and valve abnormalities detected by transthoracal echocardiography (TTE) in AS pts according to the results of prospective study. Methods: 45 pts with AS (The New-York criteria) age <60 years, with the initial TTE-changes of aorta and valves and without concomitant cardiac diseases were assessed at the Institute of Rheumathology from 2008 to 2015. At baseline 15 pts had aortic root dilatation, 21-aortic wall thickening, 32-aortic valve thickening, 15-mitral valve thickening. 5 pts had valve prosthesis (including 2 with both aortic and mitral prosthesis). 19 pts had aortic regurgitation (AR), 15 of them-1-2 degree, 4-3-4 degree), 20 pts had mitral regurgitation (MR) 1-2 degree. Subaortic thickening ("bump") was detected in 10 pts. 16 of 45 pts used anti-TNF drugs during the observation period, 14 pts-only NSAID, 15-NSAID and DMARD, including sulfaslazine (11 pts) and metotrexate (4 pts). All pts were underwent re-TTE after 1-4 years Results: Negative dynamics was detected in 27 (60%) pts in total. Progression of aortic root dilatation from 1 to 6mm was detected in 12 of 15 pts (80%), in 2-dilatation was first identified. 14 pts had first identified valve thickening (9aortic, 4-mitral, 1-both). 5 pts were underwent valve replacement: 4-aortic, 1-mitral. AR progression was detected in 10 pts (in 2-of 2 degree, in 8of 1 degree), MR progression-in 6 pts of 1 degree). A negative correlation was found between anti-TNF-therapy and progression of aortic root dilatation (R=-0,329, P=0,03). "Subaortic bump" was first identified in 3 pts. Among 10 pts with subaortic bump initially, decrease from 8mm to 3mm was found in 1 pts, complete regression-in 2, all used biologics. Conclusions: Aortic root and valve abnormalities tend to progression in most AS pts. Subaortic bump is able to regress if it is due to inflammatory edema and not fibrosis. Active anti-inflammatory therapy can protect in cardiac disease progression.
Objectives: We aim to describe the clinical spectrum of Chinese AS patients and investigate the i... more Objectives: We aim to describe the clinical spectrum of Chinese AS patients and investigate the influence of HLA-B27 status, gender and age at disease onset factors on the clinical features. Methods: Chinese AS patients with complete clinical data and fulfilling the 1984 Modified New York criteria are studied. The recorded parameters include age, sex, HLA-B27 status, family history, age at AS onset, symptom at onset, disease pattern and presence of IBP, peripheral arthritis, hip joint involvement, anterior uveitis, dactylitis and enthesitis. Chi-square test and independent samples t-test are applied between groups of categorical and continuous variables respectively, using SPSS version 13.0 software. Results: (1) A total of 1630 Chinese AS patients with a gender ratio of 3.36:1, average age of 27.84±9.07 and age at disease onset of 22.03±7.62 are included.17.2% have positive family history and 18.3% have juvenile onset AS (JoAS). (2) The overall HLA-B27 prevalence is 84.2%. HLA-B27 positive group has a younger age at onset (21.86±7.48 vs 22.92±8.31,p=0.041), higher presence of IBP (86.62% vs 78.35%, p=0.001) and hip joint involvement (53.12% vs 43.25%, p=0.004) than B27 negative group. (3) However, HLA-B27 positivity still shows some differences within different gender cohort. In the male group HLA-B27 positivity only shows higher prevalence of family history and IBP (86.62% vs 78.35%, p=0.001), while in the female B27 positivity has higher prevalence of hip joint involvement (48.98% vs 32.43%, p=0.011). (4) From the aspect of age at onset, although the JoAS and AoAS group have similar B27 positive rate and gender ratio, JoAS group has obviously higher prevalence of peripheral symptom at onset (52.70% vs 24.00%), enthesitis (34.38%vs23.17%) and peripheral pattern (68.56% vs 42.07%), with all P value <0.001. Conclusions: HLA-B27 status, gender as well as age at disease onset are associated with the clinical manifestations of AS patients, which indicates the disease complexity and requires further attention in disease diagnosis. Larger scale studies and immunogenetic technology development are needed for better understanding of disease spectrum and mechanism. References: [1] Ho, H. H., Chen, J. Y. Ankylosing spondylitis: Chinese perspective, clinical phenotypes, and associated extra-articular systemic features. Current rheumatology reports 2013;15:344 [2] Chung, H. Y., Machado, P., van der Heijde, D., D'Agostino, M. A. & Dougados, M. HLA-B27 positive patients differ from HLA-B27 negative patients in clinical presentation and imaging: results from the DESIR cohort of patients with recent onset axial spondyloarthritis.
Background: Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease at ... more Background: Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease at least twofold. Various studies have suggested that MetS is associated with a state of chronic, low-grade inflammation (1). Objectives: Our aim is to show relationships between MetS and chronic low grade inflammatory diseases, to determine frequency of MetS in psoriasis and psoriatic arthritis (PsA) against romatoid arthritis (RA). Methods: 155 patients were included in this cross-sectional study. Fifty patients were psoriasis, 55 patients were PsA who was diagnosed according to the CASPAR criteria. Fifty patients were seropositive RA who was diagnosed according to the ACR/EULAR 2010 classification criteria. MetS was diagnosed by the 2005 criteria of IDF (2). Cardiovascular risk factors and MetS associated parameters were evaluated. Results: Patients mean age, age at onset disease and diagnosing age of disease in the RA group were significantly higher compared with the psoriasis and PsA (p=0,002-0,000-0,000; respectively). Duration of psoriasis was 14,7±10,2 years in the PsA group and 12,1±11,7 years in the psoriasis group (p=0,000). Duration of arthritis were significantly longer in the RA group compared with the PsA group (p=0,000). Insulin resistance showed no significant difference between the three groups (%70, %64, %66). Elevated triglyceride levels were higher in the psoriasis and PsA compared with the RA groups (%34, %32,7, %16; respectively; p=0,045). Hypertension ratio was higher in RA than PsA and psoriasis (p=0,011) (Table 1). CRP and HAQ which are parameters for used in the follow up disease activity were higher in the RA group.
Background: Ankylosing Spondylitis (AS) is associated with a high disease burden. The greatest co... more Background: Ankylosing Spondylitis (AS) is associated with a high disease burden. The greatest contributor to the burden is loss of productivity. The data on productivity loss in Turkish patients with AS is scarce. Work Productivity Survey (WPS) is a validated tool in AS to assess productivity during the preceding month, both at work and at home. Objectives: The aim of this study is to assess work productivity in Turkish AS patients using the WPS. Methods: A total of 397 patients with AS (males:71.4%, mean age: 40.5, mean disease duration 6.8 years) from 19 rheumatology centers across Turkey were included in the study. Patients, with the help of a health professional, completed questionnaires for BASDAI, BASFI, HAQ-S, ASQoL and EQ-5D, total and nocturnal pain and WPS. Student's t test was used to compare continuous variables and chi square analysis was used to compare categorical variables. The association between the responses to WPS questions and scores of disease activity, functional and quality of life scores was assessed using Kendall correlation coefficients. Results: Of all the patients, 62.4% of were employed, 16.1% were homemakers, 9.6% were retired, 3.0% were student and 5.3% were unable to work due to AS. Non-working patients, as compared to the working patients, were older (44 vs 38, p: <0.001), more likely to be female (54% vs 14%, p: <0.001) and had less favorable scores for BASDAI (3.8 vs 3.0, p: <0.015), BASFI (2.9 vs 2.3, p: 0.001), HAQ (0.8 vs 0.5, p: <0.001), EQ-5D (0.6 vs 0.7, p: 0.005) and productivity. Working AS patients reported missing 1.2 days of work and had 2.8 days productivity reduced by at least half. As compared to the working patients, the non-working patients missed more days of housework (5.4 vs 2.9), more days of family, social or leisure activities, more and had more days with outside help, more days with reduced productivity in house work in the past month (for all comparisons, p: <0.001). However, no difference was observed between the working and not working female patients. WPS questions were shown to have moderate correlation with other clinical and health related quality scores either at workplace or at home (range from r: 0.268 to r: 0.481) (Figure). Conclusions: AS has a considerable impact on productivity for working and non-working patients, particularly in females. WPS is a useful tool to appreciate the burden of disease in patients with AS not only at workplace, but at also at home, which may be even more important in populations with a low women's workforce participation rates.
Objectives: To evaluate extrapulmonary activity and correlate baseline features at diagnosis with... more Objectives: To evaluate extrapulmonary activity and correlate baseline features at diagnosis with survival in a large cohort of patients with sarcoidosis.
Background Rheumatoid arthritis (RA) is associated with a high disease burden and productivity lo... more Background Rheumatoid arthritis (RA) is associated with a high disease burden and productivity loss due to joint damage and severe functional disability. There is only limited data on productivity loss in Turkish patients with RA. Objectives RA patients from 19 centers across Turkey underwent physical examination and completed questionnaires for global scales, HAQ-DI, EQ5D and WPS-RA. Student's t test and chi square analysis was used to compare variables. Factors associated with work productivity loss were analyzed by regression analysis. Methods RA patients from 19 centers across Turkey underwent physical examination and completed questionnaires for global scales, HAQ-DI, EQ5D and WPS-RA. Student's t test and chi square analysis was used to compare variables. Factors associated with work productivity loss were analyzed by regression analysis. Results 442 patients were enrolled (357 females, mean age: 51.7 years, mean disease duration 9.5 years). 91 patients (22.3%) were employed outside home. Non-working patients were older (44 vs 41, p<0.001), more likely to be female (87.1% vs 58.5%, p: <0.001). Of the remaining patients, 4.9% were unable to work due to arthritis.DMARD and biologic usage were similar in both groups (93.9% vs 95.9% and 37.4% vs 44.8%, respectively). Other features are summarized in Table below. Absenteeism and presenteeism were reported by the 23.7% and 37.6% of the patients, respectively. Higher swollen and tender joint counts,global scores and DAS28-ESR were associated with absenteeism in univariate analysis (p<0.01). Also biologic usage and lower HAQ score were related to less abstenteeism (p<0.05). In multivariate analysis, higher HAQ score (OR: 7.45, 95%CI: 1.26-44.1, p=0.027) was an independent factor for absenteeism. When assessing all RA patients, higher HAQ-DI score was associated with greater household activity impairment score in multivariate analysis (OR: 2.39, 95%CI: 1.77-3, p=0.001).Table 1. The general features and work productivity of patients Employed Not working P (n=96) (n=343) Global VAS (0–100) 35.7±26.2 35.4±25.6 NS Pain VAS (0–100) 42.8±32 42±31 NS DAS28-ESR 3.54+1.5 3.79±1.4 NS Remission, (%) 34.8 20.2 0.02 HAQ-DI (0–3) 1.34±0.7 1.47±0.68 0.03 EQ-5D 0.69±0.2 0.66±0.2 NS Days of work missed 2.07+5.3 – Days with productivity at work reduced by ≥50% 4.89+8.9 – Rate of RA interference on work productivity 3.3±5.9 Days of household work missed 3.7±7.2 5.7±9.2 0.03 Rate of RA interference with household work productivity 2.8±3.3 3.8±3.4 0.02 Conclusions RA has a major impact on productivity at home and at work. Higher disability score is an independent factor for both absenteeism and household activity impairment. Acknowledgements This study was supported by an unrestricted financial grant from UCB. Disclosure of Interest None declared
and remained so for the remainder of the trial. Only transient elevations were detected during ac... more and remained so for the remainder of the trial. Only transient elevations were detected during acute flares. Eight pts had at least one adverse event (AE). Most were of mild (76%) or moderate (18%) severity, and infections, mostly involving the respiratory tract, were the most common type. Two pts reported a serious AE (1 with HIDS flare, and 1 with a gastrointestinal bleed and separate peritonitis). No AEs led to discontinuation. Conclusions: In this study, CAN treatment substantially reduced the HIDS flare rate. Both physicians and pts felt that the disease was under good/ excellent control during CAN treatment. The AEs reported were manageable. Further study is needed to better define CAN treatment in HIDS.
ABSTRACT Background Behcet’s disease (BD) is a multi-system inflammatory disorder with recurrent ... more ABSTRACT Background Behcet’s disease (BD) is a multi-system inflammatory disorder with recurrent inflammation attacks. BD pathogenesis includes genetical, environmental and immunological factors. The main genetic susceptibility is HLA-B*51, but the mechanism is unknown. HLA molecules play a key role with the interaction with natural killer (NK) cells which are one of the components of the innate immune system. They have the ability to both lyse target cells and serve as regulators of immune responses by releasing Th1, Th2 and Th17 type cytokines. Objectives In this study, cytokine secretion and cytotoxic activity of NK cells in BD were investigated. Methods The study group consists of BD patients (n=26, mean age=37.2±9.7) with mucocutaneous involvement and healthy subjects (n=12, mean age=32.5±8). The patients had not received any immunsupresive treatment. Peripheral blood mononuclear cells (PBMC) were used as effector cells and K562 cell line was used as target cell. PBMCs stained with CD107a were incubated with K562 cells with an effector:target (10:1) for four hours. Cells were stained with anti-CD16 antibody for the determination of CD107a expression by flow cytometry. Cytotoxic activity (by using CFSE-labeled K562 as target cells), expression of NK cell receptors and surface markers, intracellular IL-5, IL-10, IL-17 and IFN-glevels in CD16+ NK cells were also determined by flow cytometry. Statistical analyses were performed by Mann Whitney U test. Results Although the percentages of NK, CD16brightCD56dim, CD16dimCD56bright subsets, NKp46 and NKG2D expressions were found similar in both groups, there was a significant difference in NK cell subsets. IFN-gsecreting NK1 cell subsets were found to be higher in BD group (p=0.001). However, IL-5+CD16+ NK2 cells, IL-17+CD16+ NK17 and IL-10 secreting NK regulatory cell ratio were found significantly decreased in BD group (p=0.001). Although the CD107a expression levels were found decreased in BD group, cytotoxic activity did not show any difference between groups with CFSE method (p=0.03). Conclusions We found a polarization to NK1 cell subset in BD. Although no difference was found in the cytotoxic activity, the degranulation ratio of NK cells is significant lower in BD. Our findings revealed that increased NK1 cell subsets might play role in BD pathogenesis. Disclosure of Interest None Declared
It has been generally accepted that the clinical onset of familial Mediterranean fever (FMF) begi... more It has been generally accepted that the clinical onset of familial Mediterranean fever (FMF) begins before 20 years of age in most patients. In this study, we aimed to investigate the demographic and clinical characteristics of our FMF patients with an age of onset &gt; or =20. Records of 401 patients (female/male: 204/197) that followed up between 1990 and 1999 were reviewed according to a pre-defined protocol. All patients fulfilled the diagnostic criteria of Livneh et al. The demographic and clinical features of adult-onset FMF patients were compared to those of patients with a disease onset before 20 years of age. There were 57 patients (14%) who experienced symptoms of FMF at &gt; or =20 years of age; 34 of them (8.5%) reported their first attack between 20 and 29 years of age; 18 of them (4.5%) between 30 and 39 years of age and five patients (1.25%) had their first attack after 40 years of age. Arthritis (42 vs. 65%, p = 0.001) and erysipelas-like erythema (7 vs. 17%, p = 0.047) were significantly less frequent in patients with adult-onset FMF compared to patients with disease onset before 20 years of age. Arthritis and erysipelas-like erythema were less frequent in adult-onset patients compared to those with an earlier disease onset. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. Prospective clinical studies and investigation of genotypic features are needed to identify the characteristics of this phenotypic variant.
Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare single gene disorder which... more Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare single gene disorder which is frequently misdiagnosed as juvenile rheumatoid arthritis. It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. Clinical and laboratory signs of joint inflammation such as synovitis, a high erythrocyte sedimentation rate and an elevated C-reactive protein level are usually absent. Although the disease begins early in life (usually between 3 and 8 years of age), the diagnosis may be delayed. In the present case report, we describe a male patient diagnosed with PPAC at the age of 46 years, although he had been exhibiting the typical radiological and clinical features of the disease since the age of 7 years.
Objectives. Takayasu's arteritis (TA) is a chronic arterial inflammation of unknown etiology ... more Objectives. Takayasu's arteritis (TA) is a chronic arterial inflammation of unknown etiology involving mainly the aorta and its major branches. Based on the associations of programmed death-1 (PD-1) protein encoding gene (PDCD1) with connective tissue diseases and vasculitides, PDCD1 polymorphisms are studied for susceptibility to TA in this study.Methods. The study group is made up of TA patients (n=229) fulfilling the 1990 ACR classification criteria and compared to 193 healthy controls (HC). PD-1.3, PD-1.5 and PD-1.6 single nucleotide polymorphisms of PDCD1 gene are genotyped by polymerase chain reaction and restriction analysis (PCR-RFLP).Results. The distribution of PD-1.5 polymorphism in TA patients and HC revealed a similar presence of TT genotype in patients and controls (13.3% vs. 11.4%). PD-1.3 and PD-1.6 were less polymorphic and did not differ between the groups. Rare AA genotype of PD-1.3 (1.4% vs. 1.0%) and AG genotype of PD-1.6 was again similarly (22.4% vs. 19.2%...
Summary: Alkaptonuria (AKU) is a rare metabolic disorder of phenylalanine catabolism that is inhe... more Summary: Alkaptonuria (AKU) is a rare metabolic disorder of phenylalanine catabolism that is inherited as an autosomal recessive trait. AKU is caused by loss‐of‐function mutations in the homogentisate 1,2‐dioxygenase (HGO) gene. The deficiency of homogentisate 1,2‐dioxygenase activity causes homogentisic aciduria, ochronosis and arthritis. We present the first molecular study of the HGO gene in Turkish AKU patients. Seven unrelated AKU families from different regions in Turkey were analysed. Patients in three families were homozygous for the R58fs mutation; another three families were homozygous for the R225H mutation; and one family was homozygous for the G270R mutation. Analysis of nine intragenic HGO polymorphisms showed that the R58fs, R225H and G270R Turkish AKU mutations are associated with specific HGO haplotypes. The comparison with previously reported haplotypes associated with these mutations from other populations revealed that the R225H is a recurrent mutation in Turkey,...
BackgroundLumbosacral transitional vertebras (LSTVs) are anatomic variations observed at L5-S1 ju... more BackgroundLumbosacral transitional vertebras (LSTVs) are anatomic variations observed at L5-S1 junction (1). The prevalence of LSVT ranges from 3.9% to 35.6%, indicating that this congenital anomaly is common in general population. LSVTs are well-defined anatomical differences causing low back pain and pelvic trauma (2). However, the studies assessing the influence of abnormal lumbosacral anatomy on low back pain and sacroiliac joints in patients with ankylosing spondylitis (AS) are scarce (3).ObjectivesThe current study aimed to investigate the frequency of LSVTs and the their effects on clinical variables in AS patients.MethodsThe study was designed as a prospective cross-sectional study. 113 patients were included in the study. Demographic data, clinical variables, laboratory results were recorded. Disease activity (ASDAS-CRP and ASDAS-ESR), patients’ functionality (BASFI, BASMI), enthesitis (Leeds enthesitis index) and quality of life (SF-36, visual analogue scale) were evaluate...
11th International Congress on Systemic Lupus Erythematosus -- SEP 02-06, 2015 -- Vienna, AUSTRIA... more 11th International Congress on Systemic Lupus Erythematosus -- SEP 02-06, 2015 -- Vienna, AUSTRIAWOS: 00036042190024
Background: Currently, biologic treatments are used effectively in patients with psoriatic arthri... more Background: Currently, biologic treatments are used effectively in patients with psoriatic arthritis (PsA). Objectives: The aim of this study was to evaluate and compare long-term drug survival of the first biologic treatments including adalimumab, certolizumab, etanercept, golimumab, infliximab, secukinumab and ustekinumab in patients with PsA. Methods: PsA patients, electronically registered at each visit in the TURKBIO database between 2011 and 2019 were included in the study. PASW 18.0 for Windows was used for statistical analysis. Drug survival rates were calculated by Kaplan Meier method. Results: 355 patients (227 women; axial PsA = 48, peripheral PsA = 307) were included in the study (Table 1). Adalimumab was the most commonly used first biologic treatment (n=125; 37.6%). The rate of drug survival was found to be 0.75 at month 60 in patients receiving the first biologic treatment (Figure 1). There was no significant difference in drug survival rate between tumor necrosis fac...
Objectives Takayasu's arteritis (TAK) is a rare vasculitis characterized by inflammation of i... more Objectives Takayasu's arteritis (TAK) is a rare vasculitis characterized by inflammation of intermediate- to large-size arteries. Although pulmonary artery involvement (PAI) is an expected finding in some TAK patients, data on non-vascular pulmonary involvement (NVPI) are limited. We aimed to investigate the frequency of NVPI, including parenchymal infiltration, nodules/cavities, pleural effusion, and haemorrhage, in TAK.Method We assembled a retrospective cohort of TAK patients from nine tertiary centres in Turkey. The demographics and clinical characteristics of patients were extracted from medical records and the imaging findings were evaluated for pulmonary manifestations.Results As of January 2021, 319 TAK patients (female/male 276/43; mean age 42.4 ± 13.5 years) were recruited. Eighty-two patients had cough and/or dyspnoea and four had haemoptysis as pulmonary symptoms. On computed tomography assessment, the overall frequency of NVPI was 7.2%; parenchymal infiltrations were present in 10 (3.1%), pleural effusion in eight (2.5%), nodules/cavities in six (1.9%), and pulmonary haemorrhage in four patients (1.3%). In the whole cohort, 10.3% of patients had pulmonary artery hypertension (PAH) and 5.6% had PAI. Among patients with PAH or PAI, the overall frequency of NVPI was significantly higher than in the rest of the group.Conclusions In this TAK cohort from Turkey, we observed NVPI in 7.2% of patients, with parenchymal infiltrations being the most common, followed by pleural effusion. Notably, NVPI was more frequent in patients with PAH or PAI. Although not as common as PAI, NVPI should be kept in mind, especially in TAK patients with PAH or PAI.
Objectives: To assess the dynamics of aortic and valve abnormalities detected by transthoracal ec... more Objectives: To assess the dynamics of aortic and valve abnormalities detected by transthoracal echocardiography (TTE) in AS pts according to the results of prospective study. Methods: 45 pts with AS (The New-York criteria) age <60 years, with the initial TTE-changes of aorta and valves and without concomitant cardiac diseases were assessed at the Institute of Rheumathology from 2008 to 2015. At baseline 15 pts had aortic root dilatation, 21-aortic wall thickening, 32-aortic valve thickening, 15-mitral valve thickening. 5 pts had valve prosthesis (including 2 with both aortic and mitral prosthesis). 19 pts had aortic regurgitation (AR), 15 of them-1-2 degree, 4-3-4 degree), 20 pts had mitral regurgitation (MR) 1-2 degree. Subaortic thickening ("bump") was detected in 10 pts. 16 of 45 pts used anti-TNF drugs during the observation period, 14 pts-only NSAID, 15-NSAID and DMARD, including sulfaslazine (11 pts) and metotrexate (4 pts). All pts were underwent re-TTE after 1-4 years Results: Negative dynamics was detected in 27 (60%) pts in total. Progression of aortic root dilatation from 1 to 6mm was detected in 12 of 15 pts (80%), in 2-dilatation was first identified. 14 pts had first identified valve thickening (9aortic, 4-mitral, 1-both). 5 pts were underwent valve replacement: 4-aortic, 1-mitral. AR progression was detected in 10 pts (in 2-of 2 degree, in 8of 1 degree), MR progression-in 6 pts of 1 degree). A negative correlation was found between anti-TNF-therapy and progression of aortic root dilatation (R=-0,329, P=0,03). "Subaortic bump" was first identified in 3 pts. Among 10 pts with subaortic bump initially, decrease from 8mm to 3mm was found in 1 pts, complete regression-in 2, all used biologics. Conclusions: Aortic root and valve abnormalities tend to progression in most AS pts. Subaortic bump is able to regress if it is due to inflammatory edema and not fibrosis. Active anti-inflammatory therapy can protect in cardiac disease progression.
Objectives: We aim to describe the clinical spectrum of Chinese AS patients and investigate the i... more Objectives: We aim to describe the clinical spectrum of Chinese AS patients and investigate the influence of HLA-B27 status, gender and age at disease onset factors on the clinical features. Methods: Chinese AS patients with complete clinical data and fulfilling the 1984 Modified New York criteria are studied. The recorded parameters include age, sex, HLA-B27 status, family history, age at AS onset, symptom at onset, disease pattern and presence of IBP, peripheral arthritis, hip joint involvement, anterior uveitis, dactylitis and enthesitis. Chi-square test and independent samples t-test are applied between groups of categorical and continuous variables respectively, using SPSS version 13.0 software. Results: (1) A total of 1630 Chinese AS patients with a gender ratio of 3.36:1, average age of 27.84±9.07 and age at disease onset of 22.03±7.62 are included.17.2% have positive family history and 18.3% have juvenile onset AS (JoAS). (2) The overall HLA-B27 prevalence is 84.2%. HLA-B27 positive group has a younger age at onset (21.86±7.48 vs 22.92±8.31,p=0.041), higher presence of IBP (86.62% vs 78.35%, p=0.001) and hip joint involvement (53.12% vs 43.25%, p=0.004) than B27 negative group. (3) However, HLA-B27 positivity still shows some differences within different gender cohort. In the male group HLA-B27 positivity only shows higher prevalence of family history and IBP (86.62% vs 78.35%, p=0.001), while in the female B27 positivity has higher prevalence of hip joint involvement (48.98% vs 32.43%, p=0.011). (4) From the aspect of age at onset, although the JoAS and AoAS group have similar B27 positive rate and gender ratio, JoAS group has obviously higher prevalence of peripheral symptom at onset (52.70% vs 24.00%), enthesitis (34.38%vs23.17%) and peripheral pattern (68.56% vs 42.07%), with all P value <0.001. Conclusions: HLA-B27 status, gender as well as age at disease onset are associated with the clinical manifestations of AS patients, which indicates the disease complexity and requires further attention in disease diagnosis. Larger scale studies and immunogenetic technology development are needed for better understanding of disease spectrum and mechanism. References: [1] Ho, H. H., Chen, J. Y. Ankylosing spondylitis: Chinese perspective, clinical phenotypes, and associated extra-articular systemic features. Current rheumatology reports 2013;15:344 [2] Chung, H. Y., Machado, P., van der Heijde, D., D'Agostino, M. A. & Dougados, M. HLA-B27 positive patients differ from HLA-B27 negative patients in clinical presentation and imaging: results from the DESIR cohort of patients with recent onset axial spondyloarthritis.
Background: Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease at ... more Background: Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease at least twofold. Various studies have suggested that MetS is associated with a state of chronic, low-grade inflammation (1). Objectives: Our aim is to show relationships between MetS and chronic low grade inflammatory diseases, to determine frequency of MetS in psoriasis and psoriatic arthritis (PsA) against romatoid arthritis (RA). Methods: 155 patients were included in this cross-sectional study. Fifty patients were psoriasis, 55 patients were PsA who was diagnosed according to the CASPAR criteria. Fifty patients were seropositive RA who was diagnosed according to the ACR/EULAR 2010 classification criteria. MetS was diagnosed by the 2005 criteria of IDF (2). Cardiovascular risk factors and MetS associated parameters were evaluated. Results: Patients mean age, age at onset disease and diagnosing age of disease in the RA group were significantly higher compared with the psoriasis and PsA (p=0,002-0,000-0,000; respectively). Duration of psoriasis was 14,7±10,2 years in the PsA group and 12,1±11,7 years in the psoriasis group (p=0,000). Duration of arthritis were significantly longer in the RA group compared with the PsA group (p=0,000). Insulin resistance showed no significant difference between the three groups (%70, %64, %66). Elevated triglyceride levels were higher in the psoriasis and PsA compared with the RA groups (%34, %32,7, %16; respectively; p=0,045). Hypertension ratio was higher in RA than PsA and psoriasis (p=0,011) (Table 1). CRP and HAQ which are parameters for used in the follow up disease activity were higher in the RA group.
Background: Ankylosing Spondylitis (AS) is associated with a high disease burden. The greatest co... more Background: Ankylosing Spondylitis (AS) is associated with a high disease burden. The greatest contributor to the burden is loss of productivity. The data on productivity loss in Turkish patients with AS is scarce. Work Productivity Survey (WPS) is a validated tool in AS to assess productivity during the preceding month, both at work and at home. Objectives: The aim of this study is to assess work productivity in Turkish AS patients using the WPS. Methods: A total of 397 patients with AS (males:71.4%, mean age: 40.5, mean disease duration 6.8 years) from 19 rheumatology centers across Turkey were included in the study. Patients, with the help of a health professional, completed questionnaires for BASDAI, BASFI, HAQ-S, ASQoL and EQ-5D, total and nocturnal pain and WPS. Student's t test was used to compare continuous variables and chi square analysis was used to compare categorical variables. The association between the responses to WPS questions and scores of disease activity, functional and quality of life scores was assessed using Kendall correlation coefficients. Results: Of all the patients, 62.4% of were employed, 16.1% were homemakers, 9.6% were retired, 3.0% were student and 5.3% were unable to work due to AS. Non-working patients, as compared to the working patients, were older (44 vs 38, p: <0.001), more likely to be female (54% vs 14%, p: <0.001) and had less favorable scores for BASDAI (3.8 vs 3.0, p: <0.015), BASFI (2.9 vs 2.3, p: 0.001), HAQ (0.8 vs 0.5, p: <0.001), EQ-5D (0.6 vs 0.7, p: 0.005) and productivity. Working AS patients reported missing 1.2 days of work and had 2.8 days productivity reduced by at least half. As compared to the working patients, the non-working patients missed more days of housework (5.4 vs 2.9), more days of family, social or leisure activities, more and had more days with outside help, more days with reduced productivity in house work in the past month (for all comparisons, p: <0.001). However, no difference was observed between the working and not working female patients. WPS questions were shown to have moderate correlation with other clinical and health related quality scores either at workplace or at home (range from r: 0.268 to r: 0.481) (Figure). Conclusions: AS has a considerable impact on productivity for working and non-working patients, particularly in females. WPS is a useful tool to appreciate the burden of disease in patients with AS not only at workplace, but at also at home, which may be even more important in populations with a low women's workforce participation rates.
Objectives: To evaluate extrapulmonary activity and correlate baseline features at diagnosis with... more Objectives: To evaluate extrapulmonary activity and correlate baseline features at diagnosis with survival in a large cohort of patients with sarcoidosis.
Background Rheumatoid arthritis (RA) is associated with a high disease burden and productivity lo... more Background Rheumatoid arthritis (RA) is associated with a high disease burden and productivity loss due to joint damage and severe functional disability. There is only limited data on productivity loss in Turkish patients with RA. Objectives RA patients from 19 centers across Turkey underwent physical examination and completed questionnaires for global scales, HAQ-DI, EQ5D and WPS-RA. Student's t test and chi square analysis was used to compare variables. Factors associated with work productivity loss were analyzed by regression analysis. Methods RA patients from 19 centers across Turkey underwent physical examination and completed questionnaires for global scales, HAQ-DI, EQ5D and WPS-RA. Student's t test and chi square analysis was used to compare variables. Factors associated with work productivity loss were analyzed by regression analysis. Results 442 patients were enrolled (357 females, mean age: 51.7 years, mean disease duration 9.5 years). 91 patients (22.3%) were employed outside home. Non-working patients were older (44 vs 41, p<0.001), more likely to be female (87.1% vs 58.5%, p: <0.001). Of the remaining patients, 4.9% were unable to work due to arthritis.DMARD and biologic usage were similar in both groups (93.9% vs 95.9% and 37.4% vs 44.8%, respectively). Other features are summarized in Table below. Absenteeism and presenteeism were reported by the 23.7% and 37.6% of the patients, respectively. Higher swollen and tender joint counts,global scores and DAS28-ESR were associated with absenteeism in univariate analysis (p<0.01). Also biologic usage and lower HAQ score were related to less abstenteeism (p<0.05). In multivariate analysis, higher HAQ score (OR: 7.45, 95%CI: 1.26-44.1, p=0.027) was an independent factor for absenteeism. When assessing all RA patients, higher HAQ-DI score was associated with greater household activity impairment score in multivariate analysis (OR: 2.39, 95%CI: 1.77-3, p=0.001).Table 1. The general features and work productivity of patients Employed Not working P (n=96) (n=343) Global VAS (0–100) 35.7±26.2 35.4±25.6 NS Pain VAS (0–100) 42.8±32 42±31 NS DAS28-ESR 3.54+1.5 3.79±1.4 NS Remission, (%) 34.8 20.2 0.02 HAQ-DI (0–3) 1.34±0.7 1.47±0.68 0.03 EQ-5D 0.69±0.2 0.66±0.2 NS Days of work missed 2.07+5.3 – Days with productivity at work reduced by ≥50% 4.89+8.9 – Rate of RA interference on work productivity 3.3±5.9 Days of household work missed 3.7±7.2 5.7±9.2 0.03 Rate of RA interference with household work productivity 2.8±3.3 3.8±3.4 0.02 Conclusions RA has a major impact on productivity at home and at work. Higher disability score is an independent factor for both absenteeism and household activity impairment. Acknowledgements This study was supported by an unrestricted financial grant from UCB. Disclosure of Interest None declared
and remained so for the remainder of the trial. Only transient elevations were detected during ac... more and remained so for the remainder of the trial. Only transient elevations were detected during acute flares. Eight pts had at least one adverse event (AE). Most were of mild (76%) or moderate (18%) severity, and infections, mostly involving the respiratory tract, were the most common type. Two pts reported a serious AE (1 with HIDS flare, and 1 with a gastrointestinal bleed and separate peritonitis). No AEs led to discontinuation. Conclusions: In this study, CAN treatment substantially reduced the HIDS flare rate. Both physicians and pts felt that the disease was under good/ excellent control during CAN treatment. The AEs reported were manageable. Further study is needed to better define CAN treatment in HIDS.
ABSTRACT Background Behcet’s disease (BD) is a multi-system inflammatory disorder with recurrent ... more ABSTRACT Background Behcet’s disease (BD) is a multi-system inflammatory disorder with recurrent inflammation attacks. BD pathogenesis includes genetical, environmental and immunological factors. The main genetic susceptibility is HLA-B*51, but the mechanism is unknown. HLA molecules play a key role with the interaction with natural killer (NK) cells which are one of the components of the innate immune system. They have the ability to both lyse target cells and serve as regulators of immune responses by releasing Th1, Th2 and Th17 type cytokines. Objectives In this study, cytokine secretion and cytotoxic activity of NK cells in BD were investigated. Methods The study group consists of BD patients (n=26, mean age=37.2±9.7) with mucocutaneous involvement and healthy subjects (n=12, mean age=32.5±8). The patients had not received any immunsupresive treatment. Peripheral blood mononuclear cells (PBMC) were used as effector cells and K562 cell line was used as target cell. PBMCs stained with CD107a were incubated with K562 cells with an effector:target (10:1) for four hours. Cells were stained with anti-CD16 antibody for the determination of CD107a expression by flow cytometry. Cytotoxic activity (by using CFSE-labeled K562 as target cells), expression of NK cell receptors and surface markers, intracellular IL-5, IL-10, IL-17 and IFN-glevels in CD16+ NK cells were also determined by flow cytometry. Statistical analyses were performed by Mann Whitney U test. Results Although the percentages of NK, CD16brightCD56dim, CD16dimCD56bright subsets, NKp46 and NKG2D expressions were found similar in both groups, there was a significant difference in NK cell subsets. IFN-gsecreting NK1 cell subsets were found to be higher in BD group (p=0.001). However, IL-5+CD16+ NK2 cells, IL-17+CD16+ NK17 and IL-10 secreting NK regulatory cell ratio were found significantly decreased in BD group (p=0.001). Although the CD107a expression levels were found decreased in BD group, cytotoxic activity did not show any difference between groups with CFSE method (p=0.03). Conclusions We found a polarization to NK1 cell subset in BD. Although no difference was found in the cytotoxic activity, the degranulation ratio of NK cells is significant lower in BD. Our findings revealed that increased NK1 cell subsets might play role in BD pathogenesis. Disclosure of Interest None Declared
It has been generally accepted that the clinical onset of familial Mediterranean fever (FMF) begi... more It has been generally accepted that the clinical onset of familial Mediterranean fever (FMF) begins before 20 years of age in most patients. In this study, we aimed to investigate the demographic and clinical characteristics of our FMF patients with an age of onset &gt; or =20. Records of 401 patients (female/male: 204/197) that followed up between 1990 and 1999 were reviewed according to a pre-defined protocol. All patients fulfilled the diagnostic criteria of Livneh et al. The demographic and clinical features of adult-onset FMF patients were compared to those of patients with a disease onset before 20 years of age. There were 57 patients (14%) who experienced symptoms of FMF at &gt; or =20 years of age; 34 of them (8.5%) reported their first attack between 20 and 29 years of age; 18 of them (4.5%) between 30 and 39 years of age and five patients (1.25%) had their first attack after 40 years of age. Arthritis (42 vs. 65%, p = 0.001) and erysipelas-like erythema (7 vs. 17%, p = 0.047) were significantly less frequent in patients with adult-onset FMF compared to patients with disease onset before 20 years of age. Arthritis and erysipelas-like erythema were less frequent in adult-onset patients compared to those with an earlier disease onset. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. Prospective clinical studies and investigation of genotypic features are needed to identify the characteristics of this phenotypic variant.
Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare single gene disorder which... more Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare single gene disorder which is frequently misdiagnosed as juvenile rheumatoid arthritis. It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. Clinical and laboratory signs of joint inflammation such as synovitis, a high erythrocyte sedimentation rate and an elevated C-reactive protein level are usually absent. Although the disease begins early in life (usually between 3 and 8 years of age), the diagnosis may be delayed. In the present case report, we describe a male patient diagnosed with PPAC at the age of 46 years, although he had been exhibiting the typical radiological and clinical features of the disease since the age of 7 years.
Objectives. Takayasu's arteritis (TA) is a chronic arterial inflammation of unknown etiology ... more Objectives. Takayasu's arteritis (TA) is a chronic arterial inflammation of unknown etiology involving mainly the aorta and its major branches. Based on the associations of programmed death-1 (PD-1) protein encoding gene (PDCD1) with connective tissue diseases and vasculitides, PDCD1 polymorphisms are studied for susceptibility to TA in this study.Methods. The study group is made up of TA patients (n=229) fulfilling the 1990 ACR classification criteria and compared to 193 healthy controls (HC). PD-1.3, PD-1.5 and PD-1.6 single nucleotide polymorphisms of PDCD1 gene are genotyped by polymerase chain reaction and restriction analysis (PCR-RFLP).Results. The distribution of PD-1.5 polymorphism in TA patients and HC revealed a similar presence of TT genotype in patients and controls (13.3% vs. 11.4%). PD-1.3 and PD-1.6 were less polymorphic and did not differ between the groups. Rare AA genotype of PD-1.3 (1.4% vs. 1.0%) and AG genotype of PD-1.6 was again similarly (22.4% vs. 19.2%...
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