RESUMO
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disease. Amyloidosis is the most important complication of FMF that determines the prognosis of the disease. AIMS: In our study, we have investigated the relationship between the genetic mutations with the disease severity and the frequency of development of amyloidosis inpatients with FMF. METHODS: A total of 148 patients with FMF were included this study. The relationship between disease activity score, clinical findings, response to treatment, and presence of amyloid and genetic mutations were evaluated. RESULTS: One hundred forty-eight patients (80 women (54%), 68 men (46%)) were enrolled over 18 years of age. The mean age of the patients was 30.98 ± 11.18 (18-67) years. In our study, the most frequently seen mutations are M694V, M680I, R202Q, and E148Q, respectively. The most common genotype is M694V/M694V mutation and this mutation has been found in 37 patients (25%). In 25 patients, M694V heterozygous have been found (16.8%). The third frequent mutationis M694V/M680I/R202Q has been found in13 patients (8.7%). In 23 patients, amyloidosis has been developed. Ten patients with amyloidosis have M694V homozygous mutations (27%) and 5 patients with amyloidosis M694V heterozygous (20%) mutations. The both of the two patients who carry the homozygous E148Q mutations have developed amyloidosis. CONCLUSIONS: In our study, the distribution of the frequency of mutations is consistent with other similar studies performed in Turkey. We found that patients with M694V mutation had a significantly higher rate of exacerbation, higher drug doses for treatment, and a close relationship with amyloidosis, as compared to patients with other mutations.
Assuntos
Amiloidose , Febre Familiar do Mediterrâneo , Masculino , Humanos , Feminino , Adolescente , Adulto , Adulto Jovem , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/tratamento farmacológico , Pirina/genética , Amiloidose/genética , Amiloidose/complicações , Mutação , Gravidade do PacienteRESUMO
OBJECTIVE: To compare the clinical features, laboratory findings, and prognosis of Behçet's disease (BD) patients with and without Budd-Chiari syndrome (BCS). METHODS: This multicenter retrospective study investigated 61 (M/F: 41/20) patients with BD, having coexistent BCS, and 169 (M/F:100/69) BD patients as the control group without BCS from 22 different centers of Turkey diagnosed between 1990 and 2017. RESULTS: Of the total 61 BD patients with BCS, the onset of the first symptom and the median age of diagnosis were earlier in contrast to BD patients without BCS (p = 0.005 and p = 0.007). Lower extremity deep vein and inferior vena cava (IVC) thrombosis were more common in patients with BCS (all; p < 0.01) compared to the control group. Mortality was significantly higher in BD-BCS patients with IVC thrombosis than in the controls (p = 0.004). Since most of the cases in our cohort had chronic and silent form of BCS, mortality rate was 14.8%, which was on the lower range of mortality rate reported in literature (14-47%). While all BD-BCS patients received immunosuppressive (IS) agents, only half of them received additional anticoagulant treatments. Among IS agents, interferon treatment was more frequently used in this cohort (19%), compared to other series reported in literature (2.3%). CONCLUSION: To our knowledge, this is the largest series of BD patients with BCS. Our patients had earlier disease onset and diagnosis, higher frequency of IVC thrombosis, and higher mortality rate, compared to BD patients without BCS. Mortality was significantly higher in BD-BCS patients with IVC thrombosis compared to controls. Key Points ⢠Mortality rate is higher in BD-associated BCS patients with IVC involvement. ⢠Chronic and silent form of BD-associated BCS has a better prognosis. ⢠The main treatment options are corticosteroids and immunosuppressive agents, whereas anticoagulant treatment remains controversial.
Assuntos
Síndrome de Behçet , Síndrome de Budd-Chiari , Síndrome de Behçet/complicações , Síndrome de Behçet/tratamento farmacológico , Síndrome de Behçet/epidemiologia , Síndrome de Budd-Chiari/complicações , Síndrome de Budd-Chiari/epidemiologia , Estudos de Coortes , Humanos , Imunossupressores/uso terapêutico , Estudos Retrospectivos , Veia Cava InferiorRESUMO
OBJECTIVES: To understand change in work productivity, activity impairment, quality of life (QoL), and disease activity in patients with psoriatic arthritis (PsA) receiving anti-tumor necrosis factor (anti-TNF) treatment. METHOD: One hundred twenty patients with PsA receiving anti-TNF therapy were recruited to this noninterventional, observational study. Work disability was assessed via the Work Productivity and Activity Impairment (WPAI) questionnaire and disease activity was calculated via the 28-joint Disease Activity Score using C-reactive protein (DAS28-CRP) and Disease Activity Index for Psoriatic Arthritis with 28 joints (DAPSA28) score. Patient-reported outcomes (PROs), from visual analog scores and Health Assessment Questionnaire-Disability Index scores, were evaluated to understand the clinical effectiveness at baseline and every 3 months until the month-9 final visit. The American College of Rheumatology (ACR)20/50/70 response criteria were assessed at month 9. RESULTS: A total of 120 patients (females, n = 73) were enrolled in the study. Mean (SD) age and disease duration were 41.6 ± 11.1 years and 6.9 ± 6.5 years, respectively. The most commonly used TNFα inhibitor was adalimumab (42.4%), followed by etanercept (25.8%). All WPAI questionnaire parameters were reduced at the follow-up visits compared with baseline (p < 0.001 for all). PROs and disease activity indicators (DAS28-CRP and DAPSA28) significantly improved during the course of anti-TNF treatments (p < 0.001 for all). Additionally, ACR20/50/70 responses were determined as 86.8%, 63.7%, and 41.8% of patients at the month-9 visit. CONCLUSIONS: The real-world data in PsA patients receiving anti-TNF treatment showed improvement in WPAI, QoL, and disease activity over 9 months of treatment. TRIAL REGISTRATION: NCT02028169 Key Points ⢠Psoriatic arthritis (PsA), with debilitating effects on quality of life, occurs mostly in young adults and has negative impacts on employment status and work productivity. ⢠Early PsA diagnosis and treat-to-target treatment strategies aim to reduce pain and joint damage, as well as improve work productivity. ⢠Real-world data on the impact of treatment with anti-tumor necrosis factor (anti-TNF) agents on work productivity in PsA in the literature is scarce. ⢠Our study of real-world data in patients with PsA receiving anti-TNF treatment showed improvement in work productivity, as well as in clinical and patient-reported outcomes.
Assuntos
Antirreumáticos , Artrite Psoriásica , Adalimumab/uso terapêutico , Adulto , Antirreumáticos/uso terapêutico , Artrite Psoriásica/tratamento farmacológico , Etanercepte/uso terapêutico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Resultado do Tratamento , Inibidores do Fator de Necrose Tumoral , Fator de Necrose Tumoral alfa/uso terapêuticoRESUMO
Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214, 1%), and M694I (n = 12, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.
Assuntos
Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/genética , Genética Populacional , Mutação/genética , Pirina/genética , Adolescente , Adulto , Criança , Análise Mutacional de DNA , Febre Familiar do Mediterrâneo/diagnóstico , Feminino , Frequência do Gene , Predisposição Genética para Doença/epidemiologia , Testes Genéticos , Genética Populacional/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Taxa de Mutação , Estudos Retrospectivos , Turquia/epidemiologia , Adulto JovemRESUMO
OBJECTIVE: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. METHODS: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. RESULTS: Patients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three subgroups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a significantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. CONCLUSION: Patients with FMF and exon 10 mutations show more severe clinical symptoms and outcome. Exon 2 mutations tend to have a better outcome.
RESUMO
In this article, we describe a case of neuro-Behçet's disease presenting with unilateral ptosis and facial paresis due to an intracranial mass lesion. A 25-year-old male patient with a history of Behçet's disease presented with headache, vertigo, double vision, ptosis in his right eyelid and slurred speech. Cranial magnetic resonance imaging scan revealed a right-sided capsulothalamic lesion, which was extending to the right cerebral pedicle, pons and superior cerebellar pedicle. This lesion was interpreted as neuro-Behçet's disease involvement of central nervous system. Cerebral mass- like lesion is a rare form of neuro-Behçet's disease. Review of the literature revealed a limited number of cases. Ptosis related with Behçet's disease is also a very rare presentation. This case shows that this symptom might be a part of the clinical presentation of neuro-Behçet's disease.
RESUMO
Granulomatosis with polyangiitis (GPA) is a primary systemic vasculitis characterized by granulomatous inflammation. Arthritis in GPA is most commonly associated with large joints, particularly the knees and ankles; however, symmetrical polyarthritis of small joints has been rarely reported in literature. Here, we describe retrospective analysis of six patients with GPA showing initial symptom of symmetrical polyarthritis who were followed-up by three different rheumatology departments. Male sex, anti-cyclic citrulinated peptide negativity, and early arthritis period are important clues for GPA.
RESUMO
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey. RESULTS: Of the 2246 patients, 1633 (72.7%) were aged ≤ 20 years old (Group 1) and the remaining 613 were older than 20 years (Group 2). Delay in diagnosis was longer in Group 1 and fever, peritonitis, pleuritis, erysipelas-like erythema (ELE), arthritis, family history of FMF and amyloidosis were more common in Group 1. On the other hand, sex distribution, rates of amyloidosis, vasculitis and kidney failure were not different between the groups. Among patients with available genotypes, homozygous and heterozygous M694V mutations were significantly higher and heterozygous E148Q mutation was significantly lower in Group 1 compared to Group 2. CONCLUSION: Patients with FMF whose symptoms start before 20 years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease.
Assuntos
Febre Familiar do Mediterrâneo/genética , Mutação , Pirina/genética , Adolescente , Adulto , Idade de Início , Criança , Diagnóstico Tardio , Progressão da Doença , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Taxa de Mutação , Fenótipo , Valor Preditivo dos Testes , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Distribuição por Sexo , Fatores de Tempo , Turquia/epidemiologia , Adulto JovemRESUMO
OBJECTIVE: Approximately 30-45% of patients with familial Mediterranean fever (FMF) have been reported to have attacks despite colchicine treatment. Currently, data on the treatment of colchicine-unresponsive or colchicine-intolerant FMF patients are limited; the most promising alternatives seem to be anti-interleukin-1 (anti-IL-1) agents. Here we report our experience with the off-label use of anti-IL-1 agents in a large group of FMF patients. METHODS: In all, 21 centers from different geographical regions of Turkey were included in the current study. The medical records of all FMF patients who had used anti-IL-1 treatment for at least 6 months were reviewed. RESULTS: In total, 172 FMF patients (83 [48%] female, mean age 36.2 years [range 18-68]) were included in the analysis; mean age at symptom onset was 12.6 years (range 1-48), and the mean colchicine dose was 1.7 mg/day (range 0.5-4.0). Of these patients, 151 were treated with anakinra and 21 with canakinumab. Anti-IL-1 treatment was used because of colchicine-resistant disease in 84% and amyloidosis in 12% of subjects. During the mean 19.6 months of treatment (range 6-98), the yearly attack frequency was significantly reduced (from 16.8 to 2.4; P < 0.001), and 42.1% of colchicine-resistant FMF patients were attack free. Serum levels of C-reactive protein, erythrocyte sedimentation rate, and 24-hour urinary protein excretion (5,458.7 mg/24 hours before and 3,557.3 mg/24 hours after) were significantly reduced. CONCLUSION: Anti-IL-1 treatment is an effective alternative for controlling attacks and decreasing proteinuria in colchicine-resistant FMF patients.
Assuntos
Sistemas de Liberação de Medicamentos/métodos , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre Familiar do Mediterrâneo/epidemiologia , Interleucina-1/administração & dosagem , Uso Off-Label , Adolescente , Adulto , Idoso , Febre Familiar do Mediterrâneo/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Turquia/epidemiologia , Adulto JovemRESUMO
INTRODUCTION: It is known that there is a relationship between systemic inflammation and atherosclerosis. Atherosclerosis is one of the best-known causes of cerebrovascular diseases. The aim of this study was to assess cerebral blood flow velocity using transcranial Doppler (TCD) ultrasonography in patients with familial Mediterranean fever (FMF). METHODS: A total of 30 patients aged from 20 to 50 years with FMF were enrolled in the FMF group consecutively. The control group (non-FMF group) consisted of 30 age- and sex-matched randomly selected patients without FMF who had other diagnoses such as fibromyalgia and did not have risk factors for atherosclerosis. Bilateral peak-systolic, end-diastolic, and mean blood flow velocities in the middle cerebral artery (MCA), values of Gosling's pulsatility index, and values of Pourcelot's resistance index were recorded using TCD ultrasonography by a neurosonologist blinded to the FMF and control groups. RESULTS: There were 30 participants in the FMF group in remission (male/female: 4/26, mean age: 34.7±5.9 years) and 30 participants in the control group (male/female: 4/26, mean age: 32.3±4.7 years). C-reactive protein levels and bilateral blood flow velocities in the MCA were significantly higher in the FMF group than in the control group. CONCLUSIONS: This study suggests that persistent clinical and subclinical inflammation in patients with FMF causes an increase in cerebral blood flow velocities. Our findings provide an insight into this association between FMF and cerebrovascular diseases.
RESUMO
Although gout is potentially curable, the management of this disease is often suboptimal. In this study, we investigated the treatment of gout in Turkey and also compared the management approaches to gout in different clinical specialties. Three hundred and nineteen consecutive patients (mean age 58.60 ± 12.8 years; 44 females, 275 males) were included in this multicenter study. A standardized form was generated to collect data about the patient's first admission to health care, the specialty of the doctor first diagnosed the gout, the treatment options for gout including attack management, patient referral, chronic treatment including medical treatment, and life style modifications. Forty patients were referred to another center without any treatment (12.8 %), and referral rate is most common among the primary care physicians (28.8 %). Colchicine was more commonly used for attack prophylaxis than allopurinol. Ninety-two patients had never been treated with allopurinol (28.8 %). Allopurinol prescription was less common among the primary care physicians and orthopedists, and highest among the rheumatologists. Recommendation of diet and life style modifications was less common among the primary care physicians and orthopedists, and highest among the rheumatologists. The rates of life style modification recommendation and long-term allopurinol prescription were 83.7 and 77.6 %, respectively, among the rheumatologists. Both acute and chronic management of gout is suboptimal in Turkey especially among the primary care physicians and orthopedists. Moreover, chronic treatment is even suboptimal among rheumatologists.
Assuntos
Alopurinol/uso terapêutico , Gota/terapia , Adulto , Idoso , Colchicina/uso terapêutico , Feminino , Supressores da Gota/uso terapêutico , Humanos , Medicina Interna , Estilo de Vida , Masculino , Pessoa de Meia-Idade , Ortopedia/métodos , Admissão do Paciente , Especialidade de Fisioterapia , Atenção Primária à Saúde/métodos , Reumatologia/métodos , Inquéritos e Questionários , Turquia , Ácido Úrico/análiseRESUMO
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by several immunological abnormalities. We wish to communicate the case of a patient with SLE and lupus nephritis (LN) who developed pseudothrombocytopenia. Pseudothrombocytopenia can occur in patients with SLE and LN and should be considered when diagnosing patients with thrombocytopenia without bleeding.
RESUMO
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
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
OBJECTIVE: To assess the performance of the new 2012 provisional European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) polymyalgia rheumatica (PMR) clinical classification criteria in discriminating PMR from other mimicking conditions compared with the previous 5 diagnostic criteria in a multicenter prospective study. METHODS: Patients older than 50 years, presenting with new-onset bilateral shoulder pain with elevated acute-phase reactants (APR), were assessed for the fulfillment of the new and old classification/diagnostic criteria sets for PMR. At the end of the 1-year followup, 133 patients were diagnosed with PMR (expert opinion) and 142 with non-PMR conditions [69 rheumatoid arthritis (RA)]. Discriminating capacity, sensitivity, and specificity of the criteria sets were estimated. RESULTS: Discriminating capacity of the new clinical criteria for PMR from non-PMR conditions and RA as estimated by area under the curve (AUC) were good with AUC of 0.736 and 0.781, respectively. The new criteria had a sensitivity of 89.5% and a specificity of 57.7% when tested against all non-PMR cases. When tested against all RA, seropositive RA, seronegative RA, and non-RA control patients, specificity changed to 66.7%, 100%, 20.7%, and 49.3%, respectively. Except for the Bird criteria, the 4 previous criteria had lower sensitivity and higher specificity (ranging from 83%-93%) compared with the new clinical criteria in discriminating PMR from all other controls. CONCLUSION: The new 2012 EULAR/ACR clinical classification criteria for PMR is highly sensitive; however, its ability to discriminate PMR from other inflammatory/noninflammatory shoulder conditions, especially from seronegative RA, is not adequate. Imaging and other modifications such as cutoff values for APR might increase the specificity of the criteria.
Assuntos
Artrite Reumatoide/diagnóstico , Polimialgia Reumática/diagnóstico , Dor de Ombro/diagnóstico , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimialgia Reumática/classificação , Estudos Prospectivos , Sensibilidade e EspecificidadeRESUMO
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
OBJECTIVE: Screening strategies for latent tuberculosis (TB) before starting tumor necrosis factor (TNF)-α inhibitors have decreased the prevalence of TB among patients who are treated with these agents. However, despite vigilant screening, TB continues to be an important problem, especially in parts of the world with a high background TB prevalence. The aim of this study was to determine the factors related to TB among a large multicenter cohort of patients who were treated with anti-TNF. METHODS: Fifteen rheumatology centers participated in this study. Among the 10,434 patients who were treated with anti-TNF between September 2002 and September 2012, 73 (0.69%) had developed TB. We described the demographic features and disease characteristics of these 73 patients and compared them to 7695 patients who were treated with anti-TNF, did not develop TB, and had complete data available. RESULTS: Among the 73 patients diagnosed with TB (39 men, 34 women, mean age 43.6 ± 13 yrs), the most frequent diagnoses were ankylosing spondylitis (n = 38) and rheumatoid arthritis (n = 25). More than half of the patients had extrapulmonary TB (39/73, 53%). Six patients died (8.2%). In the logistic regression model, types of anti-TNF drugs [infliximab (IFX), OR 3.4, 95% CI 1.88-6.10, p = 0.001] and insufficient and irregular isoniazid use (< 9 mos; OR 3.15, 95% CI 1.43-6.9, p = 0.004) were independent predictors of TB development. CONCLUSION: Our results suggest that TB is an important complication of anti-TNF therapies in Turkey. TB chemoprophylaxis less than 9 months and the use of IFX therapy were independent risk factors for TB development.
Assuntos
Antirreumáticos/efeitos adversos , Produtos Biológicos/efeitos adversos , Tuberculose Latente/diagnóstico , Tuberculose/epidemiologia , Tuberculose/etiologia , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adulto , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Produtos Biológicos/uso terapêutico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Risco , Espondilite Anquilosante/tratamento farmacológicoRESUMO
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
OBJECTIVE: Behçet's disease (BD) is a chronic, relapsing type of vasculitis of unknown etiology and is characterized by oral and urogenital ulcers and ocular inflammation with cutaneous, musculoskeletal, vascular, and nervous system manifestations. Few cases involving the nasal mucosa have been reported in the literature, and the true prevalence of BD remains unknown. Neurological involvement associated with BD might play a more important role in causing olfactory dysfunction than mucosal involvement, but sufficient clinical data are not available on the effect of BD on olfaction in adults. We therefore evaluated the olfactory function of patients diagnosed with BD. MATERIAL AND METHODS: Patients were chosen from among a consecutive patient group population who visited the internal medicine rheumatology polyclinic and otolaryngology departments of Ondokuz Mayis University Hospital. A total of 50 patients (both males and females) aged 18 to 60 years with a diagnosis of BD and 46 healthy controls (matched to the study group in terms of age and gender) were included. BD was diagnosed based on the criteria defined by the International Study Group for BD. A complete clinical history was taken for and a physical examination was performed in all participants. Patients with other rheumatic diseases; obstructive nasal pathologies leading to conductive-type olfactory dysfunction (e.g., septum deviation or nasal polyp); advanced systemic disease (e.g., hypertension or malignancy); a history of antithyroid, antihistamine, antidepressant, or steroid medication use within the past month; or who were current smokers, had an active upper respiratory infection, or had a history of otolaryngologic operations were excluded. The results of the "Sniffin' Sticks" (SS) olfactory test were compared between the two groups. RESULTS: The mean age of the 50 BD patients was 35.3±10 years; that of the 46 health controls was 36.9±11 years. There was no significant group difference in age or gender distribution (p>0.05). Odor identification and overall scores were significantly lower in the BD group than in the control group. There were no significant differences in odor discrimination scores between the BD and control groups (p>0.05). CONCLUSION: To our knowledge, this is the first study to evaluate olfactory function in patients diagnosed with BD using the SS test. Odor identification was more impaired in BD patients than in healthy controls, but there was no group difference in odor discrimination. BD patients should also be assessed for the involvement of olfactory function and may require treatment due to a malfunction of the olfactory system that affects the quality of life.