RESUMO
Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 × 10-5) and devised a genetic risk score for Takayasu arteritis. Takayasu arteritis was compared to hundreds of other traits, revealing the closest genetic relatedness to inflammatory bowel disease. Epigenetic patterns within risk loci suggest roles for monocytes and B cells in Takayasu arteritis. This work enhances understanding of the genetic basis and pathophysiology of Takayasu arteritis and provides clues for potential new therapeutic targets.
Assuntos
Predisposição Genética para Doença/genética , Arterite de Takayasu/genética , Estudos de Casos e Controles , Feminino , Estudo de Associação Genômica Ampla/métodos , Humanos , Doenças Inflamatórias Intestinais/genética , Masculino , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
OBJECTIVES: Glucocorticoids (GC) are widely accepted as the standard first-line treatment for giant cell arteritis (GCA). However, relapse rates are reported up to 80% on GC-only protocol arms in controlled trials of tocilizumab and abatacept in 12-24 months. Herein, we aimed to assess the real-life relapse rates retrospectively in patients with GCA from Turkey. METHODS: We assembled a retrospective cohort of patients with GCA diagnosed according to ACR 1990 criteria from tertiary rheumatology centres in Turkey. All clinical data were abstracted from medical records. Relapse was defined as any new manifestation or increased acutephase response leading to the change of the GC dose or use of a new therapeutic agent by the treating physician. RESULTS: The study included 330 (F/M: 196/134) patients with GCA. The mean age at disease onset was 68.9±9 years. The most frequent symptom was headache. Polymyalgia rheumatica was also present in 81 (24.5%) patients. Elevation of acute phase reactants (ESR>50 mm/h or CRP>5 mg/l) was absent in 25 (7.6%) patients at diagnosis. Temporal artery biopsy was available in 241 (73%) patients, and 180 of them had positive histopathological findings for GCA. For remission induction, GC pulses (250-1000 methylprednisolone mg/3-7 days) were given to 69 (20.9%) patients, with further 0.5-1 mg/kg/day prednisolone continued in the whole group. Immunosuppressives as GC-sparing agents were used in 252 (76.4%) patients. During a follow-up of a median 26.5 (6-190) months, relapses occurred in 49 (18.8%) patients. No confounding factor was observed in relapse rates. GC treatment could be stopped in only 62 (23.8%) patients. Additionally, GC-related side effects developed in 64 (24.6%) patients, and 141 (66.2%) had at least one Vasculitis Damage Index (VDI) damage item present during follow-up. CONCLUSIONS: In this first multi-centre series of GCA from Turkey, we observed that only one-fifth of patients had relapses during a mean follow-up of 26 months, with 76.4% given a GC-sparing IS agent at diagnosis. At the end of follow-up, GC-related side effects developed in one-fourth of patients. Our results suggest that patients with GCA had a low relapse rate in real-life experience of a multi-centre retrospective Turkish registry, however with a significant presence of GC-associated side effects during follow-up.
RESUMO
OBJECTIVES: We aimed to assess the outcome of a large Takayasu arteritis (TAK) cohort using the vasculitis damage index (VDI) and quality of life (QoL) scale, tools which have been validated for vasculitis. METHODS: Disease activity, damage and QoL were cross-sectionally evaluated in 165 TAK patients from 6 centres. SF-36 were applied to 51 age-matched healthy controls (HC). Persistent activity for ≥6 months was considered as treatment resistance (r-TAK). The correlation between VDI, clinical characteristics and mental (MCS)/physical (PCS) component scores of SF-36 were analysed. SF-36 and VDI scores were compared between TAK subgroups and HC. RESULTS: The median age, follow-up time and disease duration were 40 (17-68), 60 (6-384), and 72 (6-396) months, respectively. 35% of them were r-TAK. VDI scores (VDIs) in TAK 4 (1-12) were mainly due to the disease itself [4 (1-10)]. VDIs in r-TAK were significantly higher than nr-TAK [5 (2-12) vs. 3 (2-10), p<0.001)]. In the TAK patients, MCS and PCS were found as 43±10 and 38±11, respectively. A high proportion of poor MCS (70%) and PCS (80%) were demonstrated in TAK. A significantly negative but weak correlation was observed between VDI and MCS (p=0.003, r=-0.23), PCS (p<0.001, r=-0.34). Higher VDIs were detected in patients with PCS <50 [5 (1-12) vs. 2 (1-6) p<0.001)]. SF-36 score was significantly lower in TAK than HC. CONCLUSIONS: Disease-related damage mainly caused by peripheral vascular involvement was more predominant than treatment-related damage without reaching the level of severe damage scores, but contributing to poor QoL, in the TAK cohort.
Assuntos
Qualidade de Vida , Arterite de Takayasu/patologia , Arterite de Takayasu/psicologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Estudos Transversais , Ciclofosfamida/uso terapêutico , Progressão da Doença , Resistência a Medicamentos , Feminino , Glucocorticoides/uso terapêutico , Nível de Saúde , Humanos , Imunossupressores/uso terapêutico , Masculino , Saúde Mental , Pessoa de Meia-Idade , Fatores de Risco , Índice de Gravidade de Doença , Arterite de Takayasu/tratamento farmacológico , Fatores de Tempo , Resultado do Tratamento , Turquia , Adulto JovemRESUMO
BACKGROUND: Adult-onset Still's disease (AOSD) is a rare condition, and treatment choices are frequently dependent on expert opinions. The objectives of the present study were to assess treatment modalities, disease course, and the factors influencing the outcome of patients with AOSD. METHODS: A multicenter study was used to reach sufficient patient numbers. The diagnosis of AOSD was based on the Yamaguchi criteria. The data collected included patient age, gender, age at the time of diagnosis, delay time for the diagnosis, typical AOSD rash, arthralgia, arthritis, myalgia, sore throat, lymphadenopathy, hepatomegaly, splenomegaly, pleuritis, pericarditis, and other rare findings. The laboratory findings of the patients were also recorded. The drugs initiated after the establishment of a diagnosis and the induction of remission with the first treatment was recorded. Disease patterns and related factors were also investigated. A multivariate analysis was performed to assess the factors related to remission. RESULTS: The initial data of 356 patients (210 females; 59%) from 19 centers were evaluated. The median age at onset was 32 (16-88) years, and the median follow-up time was 22 months (0-180). Fever (95.8%), arthralgia (94.9%), typical AOSD rash (66.9%), arthritis (64.6%), sore throat (63.5%), and myalgia (52.8%) were the most frequent clinical features. It was found that 254 of the 306 patients (83.0%) displayed remission with the initial treatment, including corticosteroids plus methotrexate with or without other disease-modifying antirheumatic drugs. The multivariate analysis revealed that the male sex, delayed diagnosis of more than 6 months, failure to achieve remission with initial treatment, and arthritis involving wrist/elbow joints were related to the chronic disease course. CONCLUSION: Induction of remission with initial treatment was achieved in the majority of AOSD patients. Failure to achieve remission with initial treatment as well as a delayed diagnosis implicated a chronic disease course in AOSD.
Assuntos
Doença de Still de Início Tardio/diagnóstico , Doença de Still de Início Tardio/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anti-Inflamatórios/uso terapêutico , Biomarcadores , Diagnóstico Tardio , Quimioterapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Recidiva , Indução de Remissão , Fatores de Risco , Resultado do Tratamento , Adulto JovemRESUMO
Systemic sclerosis (SSc) is a disease characterized by inflammation, vascular abnormalities and fibrosis. The role of Rho/Rho-kinase pathway was demonstrated in the pathogenesis of fibrosis, inflammation and vascular abnormalities. This study was aimed to investigate the relation between SSc and Rho/Rho-kinase gene polymorphisms. The study included 339 patients with SSc and 302 healthy subjects who were apparently healthy and at similar age and gender. Genotype distributions and allele frequencies were detected by using Chi-square test or Fisher's exact Chi-square test between groups, and the haplotype analysis was applied using online program (SHEsis). Significant association was found in a polymorphism in the ROCK1 gene (rs35996865), a polymorphism in ROCK2 gene (rs10178332), a polymorphism in RhoA gene (rs2177268) and two polymorphisms in RhoC gene (rs11102522 and rs11538960) with SSc disease (p < 0.0022). In this study, association between SSc disease and Rho/Rho-kinase gene polymorphisms was investigated for the first time; significant associations between ROCK1, ROCK2, RhoA and RhoC gene polymorphisms and SSc disease were demonstrated. The results strongly suggest that this SNP may be an important risk factor for development of SSc. However, further validation of these findings in an independent cohort is necessary.
Assuntos
Polimorfismo de Nucleotídeo Único , Escleroderma Sistêmico/genética , Proteínas rho de Ligação ao GTP/genética , Quinases Associadas a rho/genética , Proteína rhoA de Ligação ao GTP/genética , Adulto , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Fatores de Risco , Escleroderma Sistêmico/diagnóstico , Turquia , Proteína de Ligação a GTP rhoCRESUMO
Systemic sclerosis (SSc) is a chronic inflammatory disease characterized by widespread fibrosis of the skin and several visceral organs. The pro-fibrotic potential of interleukin (IL)-33 has been demonstrated by in both in vitro and in vivo settings; moreover, increased level of IL-33 has also been reported in patients with SSc. Therefore, the aim of the present study was to detect the potential association of IL-33 gene polymorphisms on the susceptibility of SSc. A total of 300 SSc patients and 280 healthy controls (HC) were enrolled in this multicentric preliminary candidate gene study. DNA samples were harvested using an appropriate commercial DNA isolation kit. Four single nucleotide polymorphisms (SNPs) of IL-33 gene (rs7044343, rs1157505, rs11792633 and rs1929992) were genotyped using the appropriate commercial primer/probe sets on real-time PCR. There was no significant difference in terms of the allelic distributions and minor allele frequencies of evaluated four IL-33 polymorphisms between the SSc and HC groups (P > 0.05 for all). Moreover, the genotypic distributions of rs1157505, rs11792633 and rs1929992 polymorphisms were not significantly different (P > 0.05 for all). However, CC genotype of rs7044343 SNP was significantly higher in the SSc group compared to the HC group (P = 0.013, OR 1.75, 95 % CI 1.12-2.72). This preliminary candidate gene study demonstrates that rs7044343 polymorphism of IL-33 gene is associated with the susceptibility to the SSc in Turkish population. It may be suggested that IL-33 gene may be a candidate gene to research in SSc.
Assuntos
Interleucina-33/genética , Polimorfismo de Nucleotídeo Único , Escleroderma Sistêmico/genética , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Reação em Cadeia da Polimerase em Tempo Real , Fatores de Risco , Escleroderma Sistêmico/diagnóstico , Escleroderma Sistêmico/imunologia , TurquiaRESUMO
In this multicenter, retrospective study, we evaluated the efficacy and safety of biologic therapies, including anti-TNFs, in secondary (AA) amyloidosis patients with ankylosing spondylitis (AS) and rheumatoid arthritis (RA). In addition, the frequency of secondary amyloidosis in RA and AS patients in a single center was estimated. Fifty-one AS (39M, 12F, mean age: 46.7) and 30 RA patients (11M, 19F, mean age: 51.7) with AA amyloidosis from 16 different centers in Turkey were included. Clinical and demographical features of patients were obtained from medical charts. A composite response index (CRI) to biologic therapy-based on creatinine level, proteinuria and disease activity-was used to evaluate the efficacy of treatment. The mean annual incidence of AA amyloidosis in RA and AS patients was 0.23 and 0.42/1000 patients/year, respectively. The point prevalence in RA and AS groups was 4.59 and 7.58/1000, respectively. In RA group with AA amyloidosis, effective response was obtained in 52.2 % of patients according to CRI. RA patients with RF positivity and more initial disease activity tended to have higher response rates to therapy (p values, 0.069 and 0.056). After biologic therapy (median 17 months), two RA patients died and two developed tuberculosis. In AS group, 45.7 % of patients fulfilled the criteria of good response according to CRI. AS patients with higher CRP levels at the time of AA diagnosis and at the beginning of anti-TNF therapy had higher response rates (p values, 0.011 and 0.017). During follow-up after anti-TNF therapy (median 38 months), one patient died and tuberculosis developed in two patients. Biologic therapy seems to be effective in at least half of RA and AS patients with AA amyloidosis. Tuberculosis was the most important safety concern.
Assuntos
Amiloidose/tratamento farmacológico , Artrite Reumatoide/tratamento farmacológico , Produtos Biológicos/uso terapêutico , Imunossupressores/uso terapêutico , Espondilite Anquilosante/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto , Idoso , Amiloidose/diagnóstico , Amiloidose/epidemiologia , Amiloidose/imunologia , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/epidemiologia , Artrite Reumatoide/imunologia , Produtos Biológicos/efeitos adversos , Progressão da Doença , Feminino , Humanos , Hospedeiro Imunocomprometido , Imunossupressores/efeitos adversos , Incidência , Masculino , Pessoa de Meia-Idade , Infecções Oportunistas/induzido quimicamente , Infecções Oportunistas/epidemiologia , Infecções Oportunistas/imunologia , Prevalência , Indução de Remissão , Estudos Retrospectivos , Fatores de Risco , Espondilite Anquilosante/diagnóstico , Espondilite Anquilosante/epidemiologia , Espondilite Anquilosante/imunologia , Fatores de Tempo , Resultado do Tratamento , Tuberculose/induzido quimicamente , Tuberculose/epidemiologia , Tuberculose/imunologia , Fator de Necrose Tumoral alfa/imunologia , Turquia/epidemiologiaRESUMO
Anti-cyclic citrullinated peptide (anti-CCP) was positive in 11.5 % and rheumatoid factor was positive in 8.8 % of the patients with Brucella. After a comparative evaluation, we have found out that there was not a statistical significance concerning the anti-CCP levels between the patients with brucellosis and healthy control.
Assuntos
Artrite Reumatoide/imunologia , Autoanticorpos/imunologia , Brucelose/imunologia , Peptídeos Cíclicos/imunologia , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fator Reumatoide/imunologia , Adulto JovemRESUMO
OBJECTIVE: To evaluate total antioxidant capacity (TAC) and total oxidative stress (TOS) values in patients with myofascial pain syndrome (MPS). METHOD: The study comprised 38 patients diagnosed with MPS and 30 healthy volunteers. The age, body mass index (BMI) and pain scores (evaluation by visual analogue scales) of all the participants were recorded. The TAC, TOS and oxidative stress index (OSI) levels were compared between the MPS and control groups. RESULTS: There was no significant difference between the MPS and control groups in respect of demographic characteristics. The TAC levels were determined to be significantly lower and TOS levels and OSI values, significantly higher in the MPS patients than in the control group. CONCLUSION: The results of this study determined that the oxidant/antioxidant balance was impaired in MPS patients and thus MPS can be considered to be related to an increase in oxidative stress.
Assuntos
Antioxidantes/metabolismo , Síndromes da Dor Miofascial/metabolismo , Estresse Oxidativo/fisiologia , Adulto , Feminino , Humanos , MasculinoRESUMO
INTRODUCTION: The anti-cyclic citrullinated peptide (anti-CCP) enzyme-linked immunosorbent assay has a high sensitivity and specificity for rheumatoid arthritis (RA). It has been used in especially early diagnosis of RA, and used to discriminate from other forms of arthritis. Anti-CCP positivity is unknown in brucellosis presented with peripheric arthritis (BPA), like other rheumatic diseases. The objective of this study was to investigate the positivity of anti-CCP in patients with BPA in contrast to the patients with RA and healthy controls. Additionally, we have aimed to monitor changes of anti-CCP levels following the brucellosis treatment. METHODS: The study group consisted of 137 subjects. 62 brucellosis patients presented with peripheric arthritis. Additionally, 33 RA patients and 42 healthy subjects selected as control groups. The anti-CCP, rheumatoid factor and anti-nuclear antibody levels of the subjects were measured. RESULTS: Concerning the 62 BPA, 20 % (13 patients) of them had elevated anti-CCP levels. On the other side, of the 33 RA patients, 78.78 % (26 patients) of them had increased anti-CCP levels. Only one healthy subject's anti-CCP level was positive. There was statistically significant difference among the groups. After brucellosis treatment, monitorisation of the 13 patients with BPA who have the positive anti-CCP levels, were challengingly interesting because none of the patients had positive anti-CCP levels. CONCLUSIONS: Anti-CCP may be positive marker in the diagnosis of BPA but clinicians need to be careful during the follow up period because it may turn into normal ranges. Additionally, patients presented with peripheric arthritis and anti-CCP positivity need to be evaluated also for the differential diagnosis of BPA.
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Artrite Reumatoide/diagnóstico , Artrite/diagnóstico , Autoanticorpos/sangue , Biomarcadores/sangue , Brucelose/complicações , Peptídeos Cíclicos/imunologia , Adulto , Artrite/sangue , Artrite/complicações , Artrite Reumatoide/sangue , Artrite Reumatoide/complicações , Brucelose/sangue , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: Patient-reported outcomes (PROs) are increasingly accepted to be among the major tools for outcome assessment in rheumatic disorders. In this study we aimed to assess quality of life (QoL), disability, anxiety and depression in patients with Takayasu's arteritis (TAK). METHODS: Patients followed with the diagnosis of TAK (n = 165) and healthy controls (HCs) (n = 109) were enrolled to the study. The 36-item Short Form Health Survey (SF-36) and hospital anxiety and depression scales (HADS) were used to assess QoL and mental status together with HAQ for disability. RESULTS: In SF-36 subscale assessment, all items were observed to be statistically lower in TAK patients; similarly HAQ scores were also higher (P < 0.001) in this group. In mental assessment, anxiety was found to be more common in TAK patients [90 (54.5%) vs 38 (34.9%), P = 0.001]. Depression also tended to be higher in TAK patients [70 (66.7%) vs 35 (33.3%)], without reaching significance (P = 0.086). Most of the SF-36 subgroup parameters were lower in TAK patients with active disease. Patients having anxiety and depression or with high HAQ scores reported worse SF-36 scores. In multivariate analysis, HADS-A, HADS-D and HAQ were associated with most SF-36 subscales. CONCLUSION: PROs demonstrate that not only general health but also physical and social functioning with physical role limitations and mental health parameters were impaired in TAK. Our results, especially in active disease, suggest that PROs such as SF-36 can be core domains of disease assessment in TAK, similar to ANCA-associated vasculitides.
Assuntos
Ansiedade/etiologia , Depressão/etiologia , Qualidade de Vida , Arterite de Takayasu/psicologia , Adulto , Ansiedade/epidemiologia , Estudos Transversais , Depressão/epidemiologia , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Psicometria , Arterite de Takayasu/epidemiologia , Arterite de Takayasu/fisiopatologia , Arterite de Takayasu/reabilitação , Turquia/epidemiologiaRESUMO
Erythema nodosum (EN) is the most common cause of inflammatory nodules and usually affects the lower extremities and especially pretibial regions. EN may be idiopathic or associated with a wide spectrum of conditions including systemic diseases, infection, treatment with various drugs, pregnancy, and exceptionally with malignancies. The purpose of this study is to investigate the EN patients with different etiologies and laboratory features admitted to the rheumatology department and to compare them with other EN patients admitted to different departments including dermatology and infectious diseases. Totally, 107 patients diagnosed with EN (male/female: 37/70) were enrolled in the study. Of the 107 EN patients, 37 participants who were categorized as primary (idiopathic) EN (34.6 %) had not any underlying diseases or precipitating events. Majority of the participants were women (male/female: 12/25; mean age: 42.9 ± 9.2 years). Precisely, 70 EN (secondary EN) patients (65.4 %) had an underlying disease (male/female: 25/45; mean age: 36.1 ± 10.1). Behçet's disease (BD) was the foremost (n = 40, 37.4 %), followed by sarcoidosis (n = 17, 15.9 %), post-streptococcal (n = 9, 8.4 %), and other rheumatologic disease (one patient temporal arthritis, one patient Sjögren's syndrome, 1.9 %). Consequently, it is observed that BD, sarcoidosis, and post-streptococcal infection were found as the main etiologies of EN patients treated in our rheumatology department. These diseases should be kept in mind as an etiological factor in the management of EN.
Assuntos
Eritema Nodoso/etiologia , Adulto , Síndrome de Behçet/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sarcoidose/complicações , Infecções Estreptocócicas/complicaçõesRESUMO
Familial mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the FMF gene (MEFV). The gene causing FMF, designated MEFV, encodes a protein called pyrin or marenostrin that is expressed mainly in myeloid bone marrow precursors, neutrophils, and monocytes. Since there are several etiological factors, FMF is the most common periodic fever syndrome. However, it is still unknown what triggers or ends these periodical attacks. As a pleiotropic hormone, vitamin D has immunomodulation effects. The aim of this study was to evaluate the vitamin D levels in FMF patients. The study group was comprised of 26 patients diagnosed with FMF (men/women: 12/14), and 34 healthy control (men/women: 17/17). Vitamin D levels in FMF patients and healthy controls were 11.05 ± 7.11, 17.15 ± 6.49, respectively. FMF patients had significantly decreased vitamin D levels compared with healthy controls (P < 0.001). In conclusion, it is thought that vitamin D deficiency in FMF patients may trigger the attacks. Further studies with larger patient populations need to hold to investigate the vitamin D deficiency in patients with FMF and that may assist to clarify the mechanism behind the colchicines resistant cases.
Assuntos
Febre Familiar do Mediterrâneo/sangue , Deficiência de Vitamina D/sangue , Vitamina D/sangue , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Colchicina/uso terapêutico , Regulação para Baixo , Resistência a Medicamentos , Febre Familiar do Mediterrâneo/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
We evaluated the roles of sociocultural status, distress and cognitive functions in rheumatoid arthritis (RA) patients who developed methotrexate (MTX)-related neutropenia. The data of 37 RA patients with MTX-related neutropenia who were being followed up at 3 centers were evaluated. The control group included 74 RA patients. The clinical features, biochemical tests and treatment modalities of the patients were obtained from hospital files. The mini-mental state examination (MMSE) test and the Hospital Anxiety and Depression Scale (HADS) were administered for all RA patients with neutropenia as well as the control group. The frequencies of male patients, illiterate patients, patients living alone, patients with serious visual impairment, those with low income, and patients with high creatinine were significantly higher among RA patients with MTX-related neutropenia than in controls (p values <0.05). The RA patients with MTX-related neutropenia had significantly lower MMSE scores, and significantly higher HADS-A and HADS-D scores than controls (p values <0.05). In addition, the proportion of patients with probable dementia was significantly higher in RA patients with MTX-related neutropenia than in controls (p < 0.001). Twenty-six of the 37 patients (70.3 %) developed neutropenia with daily dosing. Patients who used MTX daily were more likely to be living alone than those using weekly dosing (p = 0.011). Multivariate analysis showed that having probable dementia on the MMSE test (OR 52.6), low income level (OR 56.8) and age (OR 1.12) were independent risk factors for the development of MTX-related neutropenia. The presence of probable dementia on MMSE, low socioeconomical status and older age are associated with serious toxicity in RA patients using MTX. Measures should be taken to prevent wrong MTX dosing by the patients. Compliance and patient education is of major importance, in particular, in the patients presented in this study.
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Antirreumáticos/efeitos adversos , Artrite Reumatoide/tratamento farmacológico , Transtornos Cognitivos/complicações , Transtornos da Memória/complicações , Metotrexato/efeitos adversos , Neutropenia/etiologia , Estresse Psicológico/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Antirreumáticos/uso terapêutico , Artrite Reumatoide/complicações , Artrite Reumatoide/psicologia , Transtornos Cognitivos/psicologia , Feminino , Humanos , Masculino , Transtornos da Memória/psicologia , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Neutropenia/induzido quimicamente , Neutropenia/psicologia , Estresse Psicológico/psicologiaRESUMO
Rheumatoid arthritis (RA) is a chronic, systemic and an autoimmune disease characterized by inflammation of the synovial membrane that affects approximately 1 % of the total world population. Rheumatoid factor (RF) is a widely used auto antibody in diagnosis of the RA and found positive in 50-80 % of the patients but with a lower specificity. On the other hand, anti-cyclic citrullinated peptide (anti-CCP) is the latest serological marker with a specificity around 98 %. This field survey was conducted in different regions to investigate the frequency of RF and anti-CCP and also frequency of RA in a northern province of Turkey. This study was conducted in 70 local areas (12 urban and 58 rural) in the province of Tokat, which is located in northern Turkey. The population of Tokat was reported to be 828,000 at the last census and about 530,000 individuals aged > 18 years old. The study population of 941 subjects (462 male and 479 female; urban 501 and rural 440) was selected by random sampling method among 530,000 individuals. Of the 941 healthy controls assigned to the study, 479 of them were female (51 %) and 462 of them were males (49 %), and median age of all participants was 41 ± 17. Twenty-six subjects were RF positive (2.8 %), and 9 patients were anti-CCP positive (1 %). The presence of both RF and anti-CCP antibodies has also been shown in two patients (0.2 %). In conclusion, we demonstrated that the frequency of RA was 0.53 %, RF presence was 2.8 %, and anti-CCP presence was 1 % in total 941 healthy subjects enrolled into study.
Assuntos
Artrite Reumatoide/imunologia , Autoanticorpos/imunologia , Peptídeos Cíclicos/imunologia , Fator Reumatoide/imunologia , Adolescente , Adulto , Idoso , Biomarcadores , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , TurquiaRESUMO
Gout results from multifactor interactions between gender, age, genetic and environmental factors. Environmental factors underlying gout and precipitating factors triggering acute attacks might vary in different populations with different lifestyles. In this study, we aimed to collect data regarding the demographic and clinical features, comorbid factors, and precipitating factors associated with the initiation of acute attacks in gout patients in Turkey. A total of 312 patients were included in this study (mean age, 58.8 ± 13.8 years; female/male ratio, 55/257). The demographic features, alcohol intake, clinical and laboratory features, and comorbid conditions including obesity, diabetes mellitus, hyperlipidemia, hypertension, and coronary heart disease were noted in a standard questionnaire. Precipitating factors initiating acute attacks (if any) were also noted. The patients were divided into 4 groups according to the region of location as central Anatolian region, southeast Anatolian region, Aegean region, and Trakya region. Our results were compared according to the gender and the location of the patients. The mean age at the start of the symptoms was 10 years higher in women (60.4 ± 14.8 and 50.6 ± 13.5 years in women and men, respectively, p < 0.001).Obesity was present in 40.1 %, diabetes mellitus in 17.9 %, hyperlipidemia in 30.1 %, hypertension in 53.5 %, coronary artery disease in 17 %, and nephrolithiasis in 21.8 % of patients. Precipitating factors triggering gout flares were as follows: diet (high consumption of meat or fish) in 46.5 %, alcohol consumption in 15.7 %, diuretics in 8.3 %, diet or diuretics in 5.1 %, diet or alcohol in 4.5 %, diet or alcohol or diuretics in 1.6 %, others in 4.2 %, and none in 14.1 %. The presence of diabetes and diuretic use was more common among women. Use of diuretics is a more common trigger for gout flares among women. On the other hand, various comorbid conditions, such as obesity and hypertension, and triggers for gout flares may differ between patients living in different geographic regions. In summary, we reported the first data regarding clinical and demographic characteristics of gout in Turkey. The majority of our patients could describe at least one "trigger" that initiated gout flare. Both comorbid conditions and triggers of attack might differ between men and women, and in different geographic areas. Better knowledge of the modifiable risk factors can be useful for the management strategy to optimize long-term patient outcomes in local clinics.
Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Gota/diagnóstico , Adulto , Fatores Etários , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Consumo de Bebidas Alcoólicas/epidemiologia , Comorbidade , Diabetes Mellitus/epidemiologia , Feminino , Gota/epidemiologia , Gota/etiologia , Humanos , Hiperlipidemias/epidemiologia , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Prevalência , Fatores de Risco , Fatores Sexuais , Turquia/epidemiologiaRESUMO
OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal-recessive disease characterized by recurrent attacks of fever with serositis. Differential diagnosis of a FMF abdominal attack with acute abdomen is difficult. Acute appendicitis is the most common cause of acute abdominal pain that requires surgical treatment. The aim of this study was to investigate frequency of FMF in patients with negative appendectomy. METHODS: We assessed 278 patients (female/male 127/151) who were operated with preoperative diagnosis of acute appendicitis. In 250 of the patients, definitive diagnosis of acute appendicitis was established by histo-pathological examination. Patients with negative appendectomy were assessed for FMF by rheumatologist. RESULTS: Negative appendectomy was detected in 28 patients (M/F 5/23, mean age 25.3 ± 8.4 years). Negative appendectomy ratio was 10.1 %. Among 28 patients two had FMF (7.7 %). CONCLUSIONS: FMF were established in 7.7 % of patients with negative appendectomy. Our study suggests patients having negative appendectomy should be evaluated for FMF. Further large sample studies are needed to define the real prevalence of FMF among negative appendectomy patients.
Assuntos
Abdome Agudo/cirurgia , Neoplasias do Apêndice/patologia , Apendicite/cirurgia , Febre Familiar do Mediterrâneo/complicações , Abdome Agudo/patologia , Adolescente , Adulto , Apendicite/complicações , Apendicite/patologia , Febre Familiar do Mediterrâneo/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
AIM: Although it is known that ankylosing spondylitis (AS) is associated with cardiovascular complications, the extent of these complications has not been clearly demonstrated in young adult patients. We have therefore investigated myocardial diastolic functions, carotid intima-media thickness (CIMT), and aortic elastic properties of young adult patients diagnosed with AS. METHOD: Sixty-six AS patients and 21 age/gender-matched healthy subjects were enrolled in the study. Spectral and tissue Doppler echocardiography, CIMT, aortic strain and distensibility, and serum B-type natriuretic peptide values were compared with disease activity indexes of AS, including the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and the role of other variables, such as anti-tumor necrosis factor-alpha (anti-TNF-α) treatment, lipid parameters, erythrocyte sedimentation rate, and C-reactive protein. RESULTS: Both mitral early diastolic flow speed (mE) and late diastolic flow speed (mA) scores were lower among patients than among the control subjects (p = 0.015 and p = 0.035, respectively). The Em ratio of the patients was remarkably lower than that of the control subjects (p = 0.044). BASDAI scores of >4 were used to identify patients with more active disease. The mA and mE/mA ratios were significantly different between patients with a BASDAI score of >4 and those with a BASDAI score of <4 (p = 0.026 and p = 0.021, respectively). While aortic elasticity were not significantly different between the groups, AS patients treated with anti-TNF-α had significantly improved aortic strain and distensibility values (p = 0.022 and p = 0.014, respectively) compared to those treated with non-steroidal anti-inflammatory drugs (NSAIDs). CONCLUSION: Myocardial diastolic functions were significantly deteriorated in the AS patients, and disease activity and myocardial diastolic functions were associated. An interesting finding was that patients receiving anti-TNF-α had better aortic elasticity than those treated with NSAIDs.
Assuntos
Aorta/fisiopatologia , Aterosclerose/fisiopatologia , Pressão Sanguínea/fisiologia , Espondilite Anquilosante/fisiopatologia , Função Ventricular Esquerda/fisiologia , Adulto , Aorta/diagnóstico por imagem , Aterosclerose/diagnóstico por imagem , Aterosclerose/etiologia , Espessura Intima-Media Carotídea , Feminino , Humanos , Masculino , Índice de Gravidade de Doença , Espondilite Anquilosante/complicações , Espondilite Anquilosante/diagnóstico por imagemRESUMO
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%) present in TA and HC. CONCLUSIONS: PD-1.3, 1.5 and 1.6 polymorphisms of PDCD1 gene, which were shown to be associated with various autoimmune disorders and vasculitides, are not associated with a susceptibility to TA in Turkish population.
Assuntos
Polimorfismo de Nucleotídeo Único , Receptor de Morte Celular Programada 1/genética , Arterite de Takayasu/genética , Adulto , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Reação em Cadeia da Polimerase , Medição de Risco , Fatores de Risco , Arterite de Takayasu/epidemiologia , Turquia/epidemiologiaRESUMO
Systemic sclerosis (SSc) is a chronic disease of unknown etiology which affects the vascular system and connective tissue. A wide series of studies showed an increased prevalence of cancer in patients with SSc than the normal population. Prostacyclin (PGI2) is an endogenously produced element that is basically synthesized by arachiodonic acid through prostacyclin synthesis in vascular system endothelial cells. Iloprost is a stable analogue of PGI2 which is used in the treatment of pulmonary arterial hypertension (PAH). In a limited number of animal models, the anti-metastatic activity of PGI2 is observed. Herein, we report iloprost treatment of a 60-year-old-woman with SSc, who lately developed PAH as a complication of her disease and lung adenocarcinoma as a co-incidence simultaneously. These two mortal complications were both treated successfully with inhaled iloprost until her death due to gastrointestinal complications of SSc.