Reumatismo最新文献_第8页

Vasculitis associated with adenosine deaminase 2 deficiency: at the crossroads between Behçet's disease and autoinflammation. A viewpoint. 血管炎与腺苷脱氨酶2缺乏相关:在behet病和自身炎症之间的十字路口。一个观点。

IF 1.4

Reumatismo Pub Date : 2023-09-18 DOI: 10.4081/reumatismo.2023.1578

A Colangelo, F Tromby, G Cafaro, R Gerli, E Bartoloni, C Perricone

{"title":"Vasculitis associated with adenosine deaminase 2 deficiency: at the crossroads between Behçet's disease and autoinflammation. A viewpoint.","authors":"A Colangelo, F Tromby, G Cafaro, R Gerli, E Bartoloni, C Perricone","doi":"10.4081/reumatismo.2023.1578","DOIUrl":"https://doi.org/10.4081/reumatismo.2023.1578","url":null,"abstract":"Adenosine deaminase 2 deficiency (DADA2) is a rare monogenic vasculopathy caused by loss-of-function homozygous or compound heterozygous mutations in ADA2, formerly CECR1 (cat eye syndrome chromosome region 1) gene. The DADA2 phenotype is widely heterogeneous, and patients may present with fever, weight loss, livedo reticularis/racemosa, digital ischemia, cutaneous ulceration, peripheral neuropathy, abdominal pain, bowel perforation, and portal or nephrogenic hypertension. More specific manifestations include early-onset ischemic or hemorrhagic stroke, mild immunodeficiency and hypogammaglobinemia, cytopenia, and vision disturbances. Herein, we present the case of a young male with vasculitis associated with DADA2. The presence of HLA-B51 and the clinical features of this patient raised the question of similarities between ADA2 deficiency, Behçet's disease, and NOD2-associated diseases. Treatment of this rare monogenic disease is challenging and based on small case series. The long-term experience of this patient proved the difficulties of prednisone tapering and the lack of satisfactory therapeutic strategies.","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"75 3","pages":""},"PeriodicalIF":1.4,"publicationDate":"2023-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10672549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Myositis after SARS-CoV-2 vaccination occurs more frequently than assumed and is probably causally related. 接种SARS-CoV-2疫苗后发生肌炎的频率比假设的要高，并且可能存在因果关系。

IF 1.4

Reumatismo Pub Date : 2023-09-18 DOI: 10.4081/reumatismo.2023.1601

J Finsterer, A S MohanaSundaram, F Scorza

引用次数: 1

Arthur Conan Doyle, Sherlock Holmes, and gout. 阿瑟·柯南·道尔，夏洛克·福尔摩斯，还有痛风。

IF 1.4

Reumatismo Pub Date : 2023-07-17 DOI: 10.4081/reumatismo.2023.1570

E Damiani

{"title":"Arthur Conan Doyle, Sherlock Holmes, and gout.","authors":"E Damiani","doi":"10.4081/reumatismo.2023.1570","DOIUrl":"https://doi.org/10.4081/reumatismo.2023.1570","url":null,"abstract":"Arthur Conan Doyle, the creator of Sherlock Holmes, was an experienced physician who treated gouty patients. A gouty character appears in The Adventure of the Missing Three-Quarter, a Sherlock Holmes novel. This offers the possibility of discussing gout from the peculiar perspective of a medical writer in light of the historical-medical context of the time. This study was conducted using Conan Doyle's autobiographical, scientific, and literary primary sources, as well as past and current medical literature. The Adventure of the Missing Three-Quarter was autobiographical. Conan Doyle himself was a rugby player and his wife died of tuberculosis. Furthermore, in 1884, in The Lancet, he described the hereditary case of a female gouty patient, presenting with ocular manifestations. In agreement with the concept of rich man's gout, the gouty patient of Sherlock Holmes' story, Lord Mount James, was a rich irascible noble but he was not addicted to the pleasures of food and sex. Following the usual funny representation of gouty patients, Conan Doyle made fun of Lord Mount James, but he misquoted a true case of gout cited in the literature. In his scientific and literary production on gout, Conan Doyle stuck to the most updated medical concepts of the time, demonstrating an uncommon knowledge of scientific literature.","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"75 2","pages":""},"PeriodicalIF":1.4,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9886288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Trends in severe outcomes in SARS-CoV-2-positive hospitalized patients with rheumatic diseases: a monocentric observational and case-control study in northern Italy. 伴有风湿病的sars - cov -2阳性住院患者严重结局的趋势:意大利北部的一项单中心观察和病例对照研究

IF 1.4

Reumatismo Pub Date : 2023-07-17 DOI: 10.4081/reumatismo.2023.1542

N Ughi, D P Bernasconi, C Gagliardi, F Del Gaudio, A Dicuonzo, A Maloberti, C Giannattasio, C Rossetti, M G Valsecchi, O M Epis

{"title":"Trends in severe outcomes in SARS-CoV-2-positive hospitalized patients with rheumatic diseases: a monocentric observational and case-control study in northern Italy.","authors":"N Ughi, D P Bernasconi, C Gagliardi, F Del Gaudio, A Dicuonzo, A Maloberti, C Giannattasio, C Rossetti, M G Valsecchi, O M Epis","doi":"10.4081/reumatismo.2023.1542","DOIUrl":"https://doi.org/10.4081/reumatismo.2023.1542","url":null,"abstract":"Rheumatic disease patients are at greater risk of infection due to their disease, comorbidities, and immunosuppressive therapy. COVID-19 outcomes in this patient setting appeared to be similar to those of the general population. However, data on this topic were mainly related to small studies on a limited number of patients. Consequently, to date, this field remains poorly explored, particularly in the pre-vaccine era. This monocentric study aimed to describe the intrahospital mortality in rheumatic patients with SARS-CoV-2 consecutively hospitalized from 21 February to 31 December 2020, before anti-SARS-CoV-2 vaccine administration spread, compared with non-rheumatic patients. Of 2491 included patients, 65 [3%, median (interquartile range) age 75 (64.76-82.239 years, 65% women] were suffering from rheumatic diseases. A total of 20 deaths were reported [case fatality rate 31%, 95% confidence interval (CI): 19-42] compared with 433 deaths (19%, 95% CI: 17-20) in patients without rheumatic diseases (p=0.024). However, the rheumatic disease was not associated with a significant increase in univariate mortality hazards (hazard ratio 1.374, 95% CI: 0.876-2.154), and after adjustment (hazard ratio 1.199, 95% CI: 0.759-1.894) by age, sex and Charlson comorbidity index. The incidence of intensive care unit admission, death, and discharge in the case-control study was comparable between rheumatic and non-rheumatic patients. The presence of rheumatic diseases in SARS-CoV-2-hospitalized patients did not represent an independent risk factor for severe disease or mortality.","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"75 2","pages":""},"PeriodicalIF":1.4,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10189562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Macrophage activation syndrome in a patient with systemic lupus erythematosus undergoing cyclophosphamide treatment: a case report. 巨噬细胞激活综合征的系统性红斑狼疮患者接受环磷酰胺治疗:1例报告。

IF 1.4

Reumatismo Pub Date : 2023-07-17 DOI: 10.4081/reumatismo.2023.1597

L Fioravante da Silveira, A Zago, D Zanchet, D Chemello

引用次数: 0

A case of Sjögren syndrome and anti-neutrophil cytoplasmic antibody-associated vasculitis. Sjögren综合征合并抗中性粒细胞细胞质抗体相关性血管炎1例。

IF 1.4

Reumatismo Pub Date : 2023-07-17 DOI: 10.4081/reumatismo.2023.1564

K Kaynar, B Güvercin, A Şengör, S Mungan

{"title":"A case of Sjögren syndrome and anti-neutrophil cytoplasmic antibody-associated vasculitis.","authors":"K Kaynar, B Güvercin, A Şengör, S Mungan","doi":"10.4081/reumatismo.2023.1564","DOIUrl":"https://doi.org/10.4081/reumatismo.2023.1564","url":null,"abstract":"Sjögren's syndrome (SS) is a rare disease with the highest reported prevalence of 0.01-0.09%. Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) is another rare auto-immune disease (prevalence of 0.0009-0.01%). The co-occurrence of these two separate clinical entities in one patient might rarely be encountered as an overlap syndrome. Here, we present the case of a 60-year-old female patient who had complaints of headache, nausea, weakness, gritty sensation in her eyes, and dry mouth [unstimulated saliva production of 0.033 mL/minute (normal; >0.1 mL/minute)] with a blood pressure of 190/110 mmHg, hypertensive retinopathy, proteinuric kidney disease, positivity of myeloperoxidase anti-neutrophil cytoplasmic antibodies, anti-Ro-52, anti-Ro, and anti-La antibodies. Pauci-immune crescentic proliferative glomerulonephritis was found in a kidney biopsy and successfully treated with cyclophosphamide and methylprednisolone. The co-occurrence of these diseases was first reported in 1992 by Böttinger et al. Since then, nearly 37 cases of SS and AAV have been reported. By reporting this case of primary SS and AAV, we emphasize the importance of auto-antibody tests in searching for the etiology of patients with proteinuria.","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"75 2","pages":""},"PeriodicalIF":1.4,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10213066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Retention rate of tumor necrosis factor inhibitors, anti-interleukin 17, and anti-interleukin 12/23 drugs in a single-center cohort of psoriatic arthritis patients. 银屑病关节炎患者单中心队列中肿瘤坏死因子抑制剂、抗白介素17和抗白介素12/23药物的保留率

IF 1.4

Reumatismo Pub Date : 2023-07-17 DOI: 10.4081/reumatismo.2023.1544

M Ferrito, G Cincinelli, M Manara, R Di Taranto, E G Favalli, R Caporali

{"title":"Retention rate of tumor necrosis factor inhibitors, anti-interleukin 17, and anti-interleukin 12/23 drugs in a single-center cohort of psoriatic arthritis patients.","authors":"M Ferrito, G Cincinelli, M Manara, R Di Taranto, E G Favalli, R Caporali","doi":"10.4081/reumatismo.2023.1544","DOIUrl":"https://doi.org/10.4081/reumatismo.2023.1544","url":null,"abstract":"The objective of this study was to evaluate biological disease-modifying anti-rheumatic drugs (bDMARDs) survival in several therapy courses of patients affected by psoriatic arthritis (PsA) and to compare tumor necrosis factor inhibitors (TNFi) and non-TNFi retention rates. A total of 241 bDMARD therapy courses (155 TNFi drugs, 65 anti-interleukin (IL)-17 drugs, and 21 anti-IL12/23) were analyzed. Bivariate analyses were performed to assess the presence of demographic and clinical features, as well as comorbidities, associated with bDMARD discontinuation in TNFi and non-TNFi groups. In the bivariate analyses of TNFi and non-TNFi groups, we found a lower age at the start of TNFi therapy in the former group [46 years, interquartile range (IQR) 45-54 vs 50.5 years, IQR 42-61; p=0.004] as well as a lower proportion of patients with skin psoriasis (65.8% vs 88.4%; p<0.001). Survival analysis showed no significant differences between TNFi and non-TNFi groups. Cox regression found fibromyalgia as a predictor of drug failure [hazard ratio (HR) 3.40, confidence interval (CI) 1.92-6.03; p<0.001] and first-line bDMARDs as a protective factor (HR 0.46, CI 0.25-0.88; p=0.019). Lastly, among TNFi courses, fibromyalgia was associated with drug suspension (HR 6.52, CI 3.16-13.46; p<0.001), while only a trend of significance for skin psoriasis as a risk factor for drug failure was shown (HR 2.38, CI 1.00-5.66, p=0.05). This study provides information about clinical and demographic factors associated with retention rates of bDMARDs from a real-life, single-center cohort of PsA patients.","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"75 2","pages":""},"PeriodicalIF":1.4,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9853517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pathergy-like reaction induced by laser hair removal in a patient with Behçet disease. 激光脱毛致behaperet病患者病理样反应1例。

IF 1.4

Reumatismo Pub Date : 2023-07-17 DOI: 10.4081/reumatismo.2023.1509

R Nicolau, T Martins Rocha, L Costa

引用次数: 0

Clinical features and genetic biomarkers associated with different phenotypes of systemic lupus erythematosus in Paraguayan patients. 巴拉圭系统性红斑狼疮患者不同表型相关的临床特征和遗传生物标志物

IF 1.4

Reumatismo Pub Date : 2023-07-17 DOI: 10.4081/reumatismo.2023.1541

I Acosta-Colman, Z Morel, A Ayala Lugo, V Jolly, I De Guillén, P Langjahr, M Vazquez, M T Martínez de Filártiga, M E Acosta

{"title":"Clinical features and genetic biomarkers associated with different phenotypes of systemic lupus erythematosus in Paraguayan patients.","authors":"I Acosta-Colman, Z Morel, A Ayala Lugo, V Jolly, I De Guillén, P Langjahr, M Vazquez, M T Martínez de Filártiga, M E Acosta","doi":"10.4081/reumatismo.2023.1541","DOIUrl":"https://doi.org/10.4081/reumatismo.2023.1541","url":null,"abstract":"Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by a heterogeneous clinical picture that makes the diagnosis and follow-up of these patients difficult. This study aimed to identify correlations between clinical, immunological, and genetic biomarkers and clinical manifestations in SLE. A retrospective study of data from medical records and immunological and genetic studies of SLE patients in Paraguay was carried out. A descriptive analysis was performed based on the type of variable. Human leukocyte antigen (HLA) allele frequencies (DPA1, DPB1, DQA1, DQB1, and DRB1) were calculated, and univariate logistic regression analyses were performed between each of the explanatory variables and the presence or absence of each phenotype. Odds ratios, 95% confidence intervals, and p values were recorded. Associations with p<0.05 were considered statistically significant. 104 SLE patients were included: 86% were female, with a mean age of 32.80±10.36 years. An association was identified between anti-double stranded DNA (anti-dsDNA) and the presence of the renal phenotype and between anti-dsDNA and the absence of the joint and hematological phenotypes. Immunoglobulin M isotype rheumatoid factor was associated with the absence of a renal phenotype. HLA-DQB1*02:02 and HLA-DRB1*07:01 were associated with the cutaneous phenotype. An association was identified between age at disease onset over 30 years and the presence of the joint phenotype. No other associations were identified. Potential clinical, immunological, and genetic biomarkers of phenotypes have been identified in SLE Paraguayan patients.","PeriodicalId":21222,"journal":{"name":"Reumatismo","volume":"75 2","pages":""},"PeriodicalIF":1.4,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10213068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Uveitis in patients with oligoarticular juvenile idiopathic arthritis and juvenile spondyloarthritis/enthesitis related arthritis: is there any difference? 少关节幼年特发性关节炎患者的葡萄膜炎与幼年脊柱炎/感染性关节炎患者的葡萄膜炎有区别吗?

IF 1.4

Reumatismo Pub Date : 2023-05-08 DOI: 10.4081/reumatismo.2023.1561

A Martins, S Ganhão, F Oliveira Pinheiro, C Granjo Morais, M Rodrigues, M Leuzinger-Dias, L Figueira, I Brito

引用次数: 0