Revista Brasileira de Reumatologia (English Edition)最新文献

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Clinical outcomes and survival in AA amyloidosis patients AA型淀粉样变患者的临床结局和生存期
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2017.02.002
Yavuz Ayar , Alparslan Ersoy , Mustafa Ferhat Oksuz , Gokhan Ocakoglu , Berna Aytac Vuruskan , Abdülmecit Yildiz , Emel Isiktas , Aysegül Oruc , Sedat Celikci , Ismail Arslan , Ahmet Bilgehan Sahin , Mustafa Güllülü
{"title":"Clinical outcomes and survival in AA amyloidosis patients","authors":"Yavuz Ayar ,&nbsp;Alparslan Ersoy ,&nbsp;Mustafa Ferhat Oksuz ,&nbsp;Gokhan Ocakoglu ,&nbsp;Berna Aytac Vuruskan ,&nbsp;Abdülmecit Yildiz ,&nbsp;Emel Isiktas ,&nbsp;Aysegül Oruc ,&nbsp;Sedat Celikci ,&nbsp;Ismail Arslan ,&nbsp;Ahmet Bilgehan Sahin ,&nbsp;Mustafa Güllülü","doi":"10.1016/j.rbre.2017.02.002","DOIUrl":"10.1016/j.rbre.2017.02.002","url":null,"abstract":"<div><h3>Aim</h3><p>Amyloid A amyloidosis is a rare complication of chronic inflammatory conditions. Most patients with amyloid A amyloidosis present with nephropathy and it leads to renal failure and death. We studied clinical characteristics and survival in patients with amyloid A amyloidosis.</p></div><div><h3>Methods</h3><p>A total of 81 patients (51 males, 30 females) with renal biopsy proven amyloid A amyloidosis were analyzed retrospectively. The patients were divided into good and poor outcomes groups according to survival results.</p></div><div><h3>Results</h3><p>Most of the patients (55.6%) had nephrotic range proteinuria at diagnosis. Most frequent underlying disorders were familial Mediterranean fever (21.2%) and rheumatoid arthritis (10.6%) in the good outcome group and malignancy (20%) in the poor outcome group. Only diastolic blood pressure in the good outcome group and phosphorus level in the poor outcome group was higher. Serum creatinine levels increased after treatment in both groups, while proteinuria in the good outcome group decreased. Increase in serum creatinine and decrease in estimated glomerular filtration rate of the poor outcome group were more significant in the good outcome group. At the time of diagnosis 18.5% and 27.2% of all patients had advanced chronic kidney disease (stage 4 and 5, respectively). Median duration of renal survival was 65<!--> <!-->±<!--> <!-->3.54 months. Among all patients, 27.1% were started dialysis treatment during the follow-up period and 7.4% of all patients underwent kidney transplantation. Higher levels of systolic blood pressure [hazard ratios 1.03, 95% confidence interval: 1–1.06, <em>p</em> <!-->=<!--> <!-->0.036], serum creatinine (hazard ratios 1.25, 95% confidence interval: 1.07–1.46, <em>p</em> <!-->=<!--> <!-->0.006) and urinary protein excretion (hazard ratios 1.08, 95% confidence interval: 1.01–1.16, <em>p</em> <!-->=<!--> <!-->0.027) were predictors of end-stage renal disease. Median survival of patients with organ involvement was 50.3<!--> <!-->±<!--> <!-->16 months.</p></div><div><h3>Conclusion</h3><p>Our study indicated that familial Mediterranean fever constituted a large proportion of cases and increased number of patients with idiopathic amyloid A amyloidosis. Additionally, it was observed that patient survival was not affected by different etiological causes in amyloid A amyloidosis.</p></div>","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 535-544"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2017.02.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35282691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
Omega-3 fatty acids, inflammatory status and biochemical markers of patients with systemic lupus erythematosus: a pilot study Omega-3脂肪酸、系统性红斑狼疮患者的炎症状态和生化标志物:一项初步研究
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2016.09.014
Mariane Curado Borges , Fabiana de Miranda Moura dos Santos , Rosa Weiss Telles , Marcus Vinícius Melo de Andrade , Maria Isabel Toulson Davisson Correia , Cristina Costa Duarte Lanna
{"title":"Omega-3 fatty acids, inflammatory status and biochemical markers of patients with systemic lupus erythematosus: a pilot study","authors":"Mariane Curado Borges ,&nbsp;Fabiana de Miranda Moura dos Santos ,&nbsp;Rosa Weiss Telles ,&nbsp;Marcus Vinícius Melo de Andrade ,&nbsp;Maria Isabel Toulson Davisson Correia ,&nbsp;Cristina Costa Duarte Lanna","doi":"10.1016/j.rbre.2016.09.014","DOIUrl":"10.1016/j.rbre.2016.09.014","url":null,"abstract":"<div><h3>Background</h3><p>Studies have shown that omega-3 fatty acids reduce the concentrations of eicosanoids, cytokines, chemokines, C-reactive protein (CRP) and other inflammatory mediators.</p></div><div><h3>Objective</h3><p>To investigate the effects of omega-3 fatty acids on circulating levels of inflammatory mediators and biochemical markers in women with systemic lupus erythematosus (SLE).</p></div><div><h3>Methods</h3><p>Experimental clinical study (clinical trial: <span>NCT02524795</span><svg><path></path></svg>); 49 women with SLE (ACR1982/1997) were randomized: 22 to the omega-3 group (daily intake of 1080<!--> <!-->mg EPA<!--> <!-->+<!--> <!-->200<!--> <!-->mg DHA, for 12 weeks) and 27 to the control group. The inflammatory mediators and biochemical markers at T0 and T1 in omega-3 group were compared using Wilcoxon test. <em>U</em>-Mann–Whitney test was used to compare variations of measured variables [Δ<em>V</em> <!-->=<!--> <!-->pre-treatment (T0)<!--> <!-->−<!--> <!-->post-treatment (T1) concentrations] between groups. <em>p</em> <!-->&lt;<!--> <!-->0.05 was considered significant.</p></div><div><h3>Results</h3><p>The median (interquartile range – IQR) of age was 37 (29–48) years old, of disease duration was 7 (4–13) years, and of SLEDAI-2K was 1 (0–2). The median (IQR) of variation in CRP levels between the two groups showed a decrease in omega-3 group while there was an increase in control group (<em>p</em> <!-->=<!--> <!-->0.008). The serum concentrations of IL-6 and IL-10, leptin and adiponectin did not change after a 12 week treatment.</p></div><div><h3>Conclusions</h3><p>Supplementation with omega-3 had no impact on serum concentrations of IL-6, IL-10, leptin and adiponectin in women with SLE and low disease activity. There was a significant decrease of CRP levels as well as evidence that omega-3 may impact total and LDL-cholesterol.</p></div>","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 526-534"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2016.09.014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35637365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 21
Presence of riziform bodies in a patient with juvenile idiopathic arthritis: case report and literature review 青少年特发性关节炎患者出现梨形体:病例报告及文献复习
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2014.09.004
Leonardo Rodrigues Campos , Fernanda Cardoso das Neves Sztajnbok , Stélio Galvão , Marise de Araújo Lessa , Ierecê Lins Aymoré , Flavio Sztajnbok
{"title":"Presence of riziform bodies in a patient with juvenile idiopathic arthritis: case report and literature review","authors":"Leonardo Rodrigues Campos ,&nbsp;Fernanda Cardoso das Neves Sztajnbok ,&nbsp;Stélio Galvão ,&nbsp;Marise de Araújo Lessa ,&nbsp;Ierecê Lins Aymoré ,&nbsp;Flavio Sztajnbok","doi":"10.1016/j.rbre.2014.09.004","DOIUrl":"10.1016/j.rbre.2014.09.004","url":null,"abstract":"","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 610-612"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2014.09.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35637372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Interventional rheumatology: the competence of Brazilian rheumatologists 介入风湿病学:巴西风湿病学家的能力
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2017.05.002
Aline Teixeira de Landa, Jamil Natour, Rita Nely Vilar Furtado
{"title":"Interventional rheumatology: the competence of Brazilian rheumatologists","authors":"Aline Teixeira de Landa,&nbsp;Jamil Natour,&nbsp;Rita Nely Vilar Furtado","doi":"10.1016/j.rbre.2017.05.002","DOIUrl":"10.1016/j.rbre.2017.05.002","url":null,"abstract":"<div><h3>Objectives</h3><p>Describe Brazilian rheumatologists's competence in interventional rheumatology; assess the association between this ability and demographic and training variables.</p></div><div><h3>Methods</h3><p>A cross-sectional study with 500 Brazilian rheumatologists. Participants were assessed by self-administered questionnaire consisting of demographics, training, practice in office and knowledge in interventional rheumatology data.</p></div><div><h3>Results</h3><p>463 participants had their data analyzed. The mean age was 40.2 years (±11.2). 70% had performed periarticular injections and 78% had performed intra-articular injections. The sample was divided into three groups: non-interventionist, little interventionist and very interventionist. The non-interventionist group showed (<em>p</em> <!-->&lt;<!--> <!-->0.001–0.04) higher mean age, lower proportion of university bond, lower training history, higher proportion of graduates in the Southeast country, and higher proportion of graduates in the 1980s to 1989. The very interventionist group showed higher (<em>p</em> <!-->&lt;<!--> <!-->0.001–0.018) proportion of adult rheumatologists, higher proportion of university bond, longer training time with greater practice of complex procedures, and higher proportion of graduates, trained and with private practice in the South country. Variables most associated with the very interventionist subgroup are performing axial intra-articular injections (OR: 7.4, <em>p</em> <!-->&lt;<!--> <!-->0.001), synovial biopsy (OR: 5.75, <em>p</em> <!-->=<!--> <!-->0.043), image-guided IAI (OR: 4.16, <em>p</em> <!-->&lt;<!--> <!-->0.001), viscosupplementation (OR<!--> <!-->=<!--> <!-->3.41, <em>p</em> <!-->&lt;<!--> <!-->0.001), joint lavage (OR<!--> <!-->=<!--> <!-->3.22, <em>p</em> <!-->=<!--> <!-->0.019), salivary gland biopsy (OR<!--> <!-->=<!--> <!-->2.16, <em>p</em> <!-->=<!--> <!-->0.034) and over 6-month training (OR: 2.16, <em>p</em> <!-->=<!--> <!-->0.008).</p></div><div><h3>Conclusions</h3><p>Performing more complex invasive procedures and over 6-month training in interventional rheumatology were variables associated with enhanced interventional profile.</p></div>","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 557-565"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2017.05.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35112585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Leprosy simulating systemic sclerosis: a case report 麻风病模拟系统性硬化症1例报告
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2016.09.010
Bruna Burko Rocha Chu , Giorgina Falcão Brandão Côrtes Gobbo , Rafaela Copês , Glênio Gutjahr , Erick Cavalcanti Cossa , Eduardo dos Santos Paiva
{"title":"Leprosy simulating systemic sclerosis: a case report","authors":"Bruna Burko Rocha Chu ,&nbsp;Giorgina Falcão Brandão Côrtes Gobbo ,&nbsp;Rafaela Copês ,&nbsp;Glênio Gutjahr ,&nbsp;Erick Cavalcanti Cossa ,&nbsp;Eduardo dos Santos Paiva","doi":"10.1016/j.rbre.2016.09.010","DOIUrl":"10.1016/j.rbre.2016.09.010","url":null,"abstract":"","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 630-632"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2016.09.010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35637849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Mortality from systemic erythematosus lupus in Brazil: evaluation of causes according to the government health database 巴西系统性红斑狼疮的死亡率:根据政府卫生数据库评估原因
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2017.09.001
Luisa Ribeiro Costi, Hatsumi Miyashiro Iwamoto, Dilma Costa de Oliveira Neves, Cezar Augusto Muniz Caldas
{"title":"Mortality from systemic erythematosus lupus in Brazil: evaluation of causes according to the government health database","authors":"Luisa Ribeiro Costi,&nbsp;Hatsumi Miyashiro Iwamoto,&nbsp;Dilma Costa de Oliveira Neves,&nbsp;Cezar Augusto Muniz Caldas","doi":"10.1016/j.rbre.2017.09.001","DOIUrl":"10.1016/j.rbre.2017.09.001","url":null,"abstract":"<div><h3>Objective</h3><p>To characterize the causes of mortality in patients with systemic lupus erythematosus (SLE) in Brazil between 2002 and 2011.</p></div><div><h3>Methods</h3><p>An exploratory ecological study of a time series using data from the Mortality Information System of DATASUS, the Department of the Unified Health System (Brazil's National Health System).</p></div><div><h3>Results</h3><p>Brazil's SLE mortality rate was 4.76 deaths/10<sup>5</sup> inhabitants. The mortality rate was higher in the Midwest, North and Southeast regions than in the country as a whole. There were 6.3% fewer and 4.2% more deaths than expected in the Northeast and Southeast regions, respectively. The mean age at death was 40.7<!--> <!-->±<!--> <!-->18 years, and 45.61% of deaths occurred between the ages of 20 and 39. Incidence was highest in women (90.7%) and whites (49.2%). Disorders of the musculoskeletal system and connective tissue were mentioned as an underlying cause of death in 77.5% of cases, and diseases of the circulatory system and infectious and parasitic diseases were also noted in fewer cases. SLE was mentioned as an underlying cause of death in 77% of cases, with no difference between the Brazilian regions (<em>p</em> <!-->=<!--> <!-->0.2058). The main SLE-related causes of death were, sequentially, diseases of the respiratory and circulatory systems and infectious and parasitic diseases.</p></div><div><h3>Conclusions</h3><p>This study identified a need for greater control of risk factors for cardiovascular diseases and a better understanding of the pathogenesis of atherosclerosis in SLE. Infectious causes are still frequent, and management should be improved, especially in the early stages of the disease.</p></div>","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 574-582"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2017.09.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35451482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Esophageal abnormalities in juvenile localized scleroderma: is it associated with other extracutaneous manifestations? 青少年局限性硬皮病的食管异常:是否与其他皮外表现有关?
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2016.09.011
Clarissa C.M. Valões , Glaucia V. Novak , Juliana B. Brunelli , Katia T. Kozu , Ricardo K. Toma , Clovis A. Silva
{"title":"Esophageal abnormalities in juvenile localized scleroderma: is it associated with other extracutaneous manifestations?","authors":"Clarissa C.M. Valões ,&nbsp;Glaucia V. Novak ,&nbsp;Juliana B. Brunelli ,&nbsp;Katia T. Kozu ,&nbsp;Ricardo K. Toma ,&nbsp;Clovis A. Silva","doi":"10.1016/j.rbre.2016.09.011","DOIUrl":"10.1016/j.rbre.2016.09.011","url":null,"abstract":"<div><h3>Objective</h3><p>To assess esophageal involvement (EI) in juvenile localized scleroderma (JLS) population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes.</p></div><div><h3>Methods</h3><p>For a period of 30 years, 5881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia) and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring.</p></div><div><h3>Results</h3><p>JLS was observed in 56/5881 patients (0.9%), mainly linear morphea subtype. EI was observed in 23/56(41%) of JLS patients. Eight(35%) of 23 EI patients with JLS were symptomatic and presented heartburn(5/8), solid and liquid dysphagia(3/8), nausea and epigastralgia(1/8). The frequency of any cumulative extracutaneous manifestations (calcinosis, arthritis/arthralgia, central nervous system, interstitial pneumonitis, mesangial nephritis and/or arrhythmia) was significantly higher in JLS patients with EI compared to those without this complication (56% vs. 24%, <em>p</em> <!-->=<!--> <!-->0.024). No differences were evidenced in demographic data, JLS subtypes and in each extracutaneous manifestation in both groups (<em>p</em> <!-->&gt;<!--> <!-->0.05). The frequency of methotrexate use was significantly higher in JLS patients with EI compared to those without (52% vs. 12%, <em>p</em> <!-->=<!--> <!-->0.002). Autoantibody profile (antinuclear antibodies, anti-SCL-70, rheumatoid factor, anticentromere, anti-cardiolipin, anti-Ro/SSA and anti-La/SSB) was similar in both groups (<em>p</em> <!-->&gt;<!--> <!-->0.05).</p></div><div><h3>Conclusions</h3><p>Our study demonstrated that EI was frequently observed in JLS patients, mainly in asymptomatic patients with linear subtype. EI occurred in JLS patients with other extracutaneous manifestations and required methotrexate therapy.</p></div>","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 521-525"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2016.09.011","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35282690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Case-control study of vitamin D receptor gene polymorphism in Pakistani rheumatoid arthritis patients 巴基斯坦类风湿性关节炎患者维生素D受体基因多态性的病例对照研究
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2015.07.003
Peter John , Attya Bhatti , Noor ul Ain , Tahir Iqbal , Tayyaba Sadaf , Javed Mehmood Malik
{"title":"Case-control study of vitamin D receptor gene polymorphism in Pakistani rheumatoid arthritis patients","authors":"Peter John ,&nbsp;Attya Bhatti ,&nbsp;Noor ul Ain ,&nbsp;Tahir Iqbal ,&nbsp;Tayyaba Sadaf ,&nbsp;Javed Mehmood Malik","doi":"10.1016/j.rbre.2015.07.003","DOIUrl":"10.1016/j.rbre.2015.07.003","url":null,"abstract":"","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 633-636"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2015.07.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35637851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever 成人家族性地中海热MEFV基因多态性(G138G和A165A)的研究
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2016.02.004
Mustafa Ferhat Öksuz , Mutlu Karkucak , Orhan Görukmez , Gökhan Ocakoğlu , Abdulmecit Yıldız , Mehmet Ture , Tahsin Yakut , Kamil Dilek
{"title":"Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever","authors":"Mustafa Ferhat Öksuz ,&nbsp;Mutlu Karkucak ,&nbsp;Orhan Görukmez ,&nbsp;Gökhan Ocakoğlu ,&nbsp;Abdulmecit Yıldız ,&nbsp;Mehmet Ture ,&nbsp;Tahsin Yakut ,&nbsp;Kamil Dilek","doi":"10.1016/j.rbre.2016.02.004","DOIUrl":"10.1016/j.rbre.2016.02.004","url":null,"abstract":"<div><h3>Aim</h3><p>Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A&gt;G) and A165A (rs224223, c.495C&gt;A) gene polymorphisms on the clinical findings of the disease.</p></div><div><h3>Methods</h3><p>One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene.</p></div><div><h3>Results</h3><p>As a result of the MEFV mutation analysis, the most common mutation was the M694<span>V</span> mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (<em>p</em> <!-->&lt;<!--> <!-->0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (<em>p</em> <!-->&gt;<!--> <!-->0.05).</p></div><div><h3>Conclusions</h3><p>To our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed.</p></div>","PeriodicalId":101096,"journal":{"name":"Revista Brasileira de Reumatologia (English Edition)","volume":"57 6","pages":"Pages 501-506"},"PeriodicalIF":0.0,"publicationDate":"2017-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.rbre.2016.02.004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35282687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Development of rheumatology training in Brazil: the option for a medical residency program 巴西风湿病学培训的发展:医疗住院医师计划的选择
Revista Brasileira de Reumatologia (English Edition) Pub Date : 2017-11-01 DOI: 10.1016/j.rbre.2016.04.001
Cleandro Pires Albuquerque, Leopoldo Luiz dos Santos-Neto
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引用次数: 7
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