Particularidades dos Pacientes com Arterite de Takayasu em Idade Mais Avançada: Estudo Coorte, Retrospectivo e Transversal / Characteristics of Older Patients with Takayasu's Arteritis: A Two-Center, Cross-Sectional, Retrospective Cohort Study

Resumo Fundamentos Poucos estudos avaliaram pacientes idosos com Arterite de Takayasu (AT). Objetivo Avaliar o progresso de AT em diferentes grupos etários em seus possíveis efeitos sobre o tratamento medicamentoso e atividade da doença. Métodos este estudo transversal, retrospectivo, do tipo coorte incluiu 66 pacientes com AT. Os pacientes foram entrevistados, e dados dos 12 meses anteriores foram coletados dos prontuários médicos eletrônicos. Os pacientes foram divididos em quatro quartis de acordo com idade atual, e comparados quanto aos dados clínicos e laboratoriais, tratamento, comorbidades, status da doença, e status funcional. Um p<0,05 foi estabelecido como estatisticamente significativo. Resultados Os grupos foram definidos como Q1(22-36 anos, n=16), Q2(37-42 anos, n=18), Q3(43-49 anos, n=17), e Q4(51-66 anos, n=15). A frequência de pacientes com atividade da doença, fadiga, comorbidades e comprometimentos vasculares, e o índice de extensão da doença (DEI. Tak) foram comparáveis entre os grupos. Pacientes com idade mais avançada apresentaram maior duração da doença (p=0,001) e maior comprometimento do status funcional (Q2 versus Q3, p=0,003); menos pacientes usaram prednisona (Q1:43,8%; Q2:33,3%; Q3:11,8%; e Q4:6,7%; p=0,049) e agentes imunossupressores [Q1:100,0%; Q2:66,7%; Q3:58,8% e Q4:46,7%; Q1 versus Q3 (p=0,043) e Q1 versus Q4 (p=0,005) nas análises post-hoc]. Além disso, os níveis de danos da doença, sintomas de uma nova ocorrência de AT, e complicações nos 12 meses precedentes não foram diferentes entre os grupos. Conclusão Pacientes com AT e idade mais avançada requerem mínima intervenção medicamentosa e apresentam maior comprometimento no status funcional, o que pode ser atribuído a fatores relacionados ao envelhecimento.

Abstract Background Few studies have assessed elderly patients with Takayasu's arteritis (TAK). Objectives To evaluate the progression of TAK in different age groups and its possible effects on drug treatment and disease activity. Methods This cross-sectional and retrospective cohort study included 66 TAK patients. Patients were interviewed and data of the 12 preceding months were collected from electronic medical records. The patients were divided into four quartiles according to current age and compared for clinical and laboratory data, treatment, comorbidities, disease status, and functional status. Statistical significance was set at p<0.05. Results The groups were Q1(22-36 years, n=16), Q2(37-42 years, n=18), Q3(43-49 years, n=17), and Q4(51-66 years, n=15). The frequency of patients with disease activity, fatigue, comorbidities and vascular impairments, and the TAK disease extent index were also comparable between the groups. With age, disease duration was longer (p=0.001), fewer patients used prednisone (Q1:43.8%, Q2:33.3%, Q3:11.8%, and Q4:6.7%; p=0.049) and immunosuppressive drugs [Q1:100.0%, Q2:66.7%, Q3:58.8%, and Q4:46.7%; Q1 versus Q3 (p=0.043), and Q1 versus Q4 (p=0.005) in post-hoc analyses], and patients had greater functional status impairment (Q2 versus Q3, p=0.003). In addition, the levels of disease damage, new TAK symptoms, and complications in the preceding 12 months were not different between the groups. Conclusions Older patients with TAK require minimal drug treatment, and have greater impairment of functional status, which may be attributed to aging-related factors.

Post-acute COVID-19 in three doses vaccinated autoimmune rheumatic diseases patients: frequency and pattern of this condition

Abstract Background Data on post-acute COVID-19 in autoimmune rheumatic diseases (ARD) are scarce, focusing on a single disease, with variable definitions of this condition and time of vaccination. The aim of this study was to evaluate the frequency and pattern of post-acute COVID-19 in vaccinated patients with ARD using established diagnosis criteria. Methods Retrospective evaluation of a prospective cohort of 108 ARD patients and 32 non-ARD controls, diagnosed with SARS-CoV-2 infection (RT-PCR/antigen test) after the third dose of the CoronaVac vaccine. Post-acute COVID-19 (≥ 4 weeks and > 12 weeks of SARS-CoV-2 symptoms) were registered according to the established international criteria. Results ARD patients and non-ARD controls, balanced for age and sex, had high and comparable frequencies of ≥ 4 weeks post-acute COVID-19 (58.3% vs. 53.1%, p = 0.6854) and > 12 weeks post-acute COVID-19 (39.8% vs. 46.9%, p = 0.5419). Regarding ≥ 4 weeks post-acute COVID-19, frequencies of ≥ 3 symptoms were similar in ARD and non-ARD controls (54% vs. 41.2%, p = 0.7886), and this was also similar in > 12 weeks post-acute COVID-19 (68.3% vs. 88.2%, p = 0.1322). Further analysis of the risk factors for ≥ 4 weeks post-acute COVID-19 in ARD patients revealed that age, sex, clinical severity of COVID-19, reinfection, and autoimmune diseases were not associated with this condition (p > 0.05). The clinical manifestations of post-acute COVID-19 were similar in both groups (p > 0.05), with fatigue and memory loss being the most frequent manifestations. Conclusion We provide novel data demonstrating that immune/inflammatory ARD disturbances after third dose vaccination do not seem to be a major determinant of post-acute COVID-19 since its pattern is very similar to that of the general population. Clinical Trials platform (NCT04754698).

Genetic diversity of Trypanosoma cruzi strains isolated from chronic chagasic patients and non-human hosts in the state of São Paulo, Brazil

BACKGROUND Trypanosoma cruzi shows an exuberant genetic diversity. Currently, seven phylogenetic lineages, called discrete typing units (DTUs), are recognised: TcI-TcVI and Tcbat. Despite advances in studies on T. cruzi and its populations, there is no consensus regarding its heterogeneity. OBJECTIVES This study aimed to perform molecular characterisation of T. cruzi strains, isolated in the state of São Paulo, to identify the DTUs involved and evaluate their genetic diversity. METHODS T. cruzi strains were isolated from biological samples of chronic chagasic patients, marsupials and triatomines through culture techniques and subjected to molecular characterisation using the fluorescent fragment length barcoding (FFLB) technique. Subsequently, the results were correlated with complementary information to enable better discrimination between the identified DTUs. FINDINGS It was possible to identify TcI in two humans and two triatomines; TcII/VI in 19 humans, two marsupials and one triatomine; and TcIII in one human host, an individual that also presented a result for TcI, which indicated the possibility of a mixed infection. Regarding the strains characterised by the TcII/VI profile, the correlation with complementary information allowed to suggest that, in general, these parasite populations indeed correspond to the TcII genotype. MAIN CONCLUSIONS The TcII/VI profile, associated with domestic cycles and patients with chronic Chagas disease, was the most prevalent among the identified DTUs. Furthermore, the correlation of the study results with complementary information made it possible to suggest that TcII is the predominant lineage of this work.

Systemic autoimmune diseases and work outcomes in Brazil: a scoping review

ABSTRACT OBJECTIVE To review articles that assessed work-related outcomes such as workability, work productivity, presenteeism, absenteeism, sick leave, return to work, and employment status of Brazilian patients with rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, Sjögren's syndrome, and systemic autoimmune myopathies. METHODS This study was conducted in Medline databases (PubMed), SciELO, and Lilacs through a combination of descriptors of interest. Studies published until December 2020 were considered in the search strategy. RESULTS Eight out of 90 articles met the eligibility criteria and were included in this review. The studies are highly heterogeneous. Most of them are cross-sectional, and all of them address rheumatoid arthritis or systemic lupus erythematosus. A common denominator among these studies is the high proportion of patients outside the labor market. CONCLUSIONS In general, the studies show unfavorable labor outcomes and impaired participation in the Brazilian workforce among the samples of patients assessed. There is a need to better understand several topics about Brazilian patients with systemic autoimmune diseases and their work context, as well as to conduct studies focusing on rarer diseases and on the themes of return and reintegration to work.

Factors associated with hospitalizations for Covid-19 in patients with rheumatoid arthritis: data from the Reumacov Brazil registry

Abstract Background: Patients using immunosuppressive drugs may have unfavorable results after infections. However, there is a lack of information regarding COVID 19 in these patients, especially in patients with rheumatoid arthritis (RA). Therefore, the aim of this study was to evaluate the risk factors associated with COVID 19 hospitalizations in patients with RA. Methods: This multicenter, prospective cohort study is within the ReumaCoV Brazil registry and included 489 patients with RA. In this context, 269 patients who tested positive for COVID 19 were compared to 220 patients who tested negative for COVID 19 (control group). All patient data were collected from the Research Electronic Data Capture database. Results: The participants were predominantly female (90.6%) with a mean age of 53 ±12 years. Of the patients with COVID 19, 54 (20.1%) required hospitalization. After multiple adjustments, the final regression model showed that heart disease (OR =4.61, 95% CI 1.06-20.02. P < 0.001) and current use of glucocorticoids (OR =20.66, 95% CI 3.09-138. P < 0.002) were the risk factors associated with hospitalization. In addition, anosmia was associated with a lower chance of hospitalization (OR =0.26; 95% CI 0.10-0.67, P < 0.005). Conclusion: Our results demonstrated that heart disease and the use of glucocorticoids were associated with a higher number of hospital admissions for COVID 19 in patients with RA. Trial registration: Brazilian Registry of Clinical Trials RBR 33YTQC.

High YKL-40 serum levels and its expression in the muscle tissues of patients with antisynthetase syndrome

Abstract Background: The protein chitinase-3-like-1 (YKL-40) is rarely analyzed in patients with myositis. Therefore, we aimed to evaluate YKL-40 serum levels; correlate them with laboratory and clinical parameters, disease status, and treatment schemes; and analyze the YKL-40 expression in the muscle tissues of patients with antisynthetase syndrome (ASSD). Methods: This cross-sectional single-center study included 64 adult patients with ASSD who were age-, gender-, and ethnicity-matched to 64 healthy control individuals. Their YKL-40 serum levels were analyzed using the Enzyme-Linked Immunosorbent Assay (ELISA) kit method, while YKL-40 expression in muscle tissues was analyzed using an immunohistochemical technique. Disease status was assessed using the International Myositis Assessment and Clinical Studies Group (IMACS) set scores. Results: The patients' mean age was 44.8 ± 11.8 years, and median disease duration was 1.5 (0.0-4.0) years. These patients were predominantly female (82.8%) and Caucasian (73.4%). Most patients had stable disease. The median YKL-40 serum level was significantly higher in patients with ASSD when compared to the healthy individuals: 538.4 (363.4-853.1) pg/mL versus 270.0 (201.8-451.9) pg/mL, respectively; P < 0.001. However, YKL-40 serum levels did not correlate with any clinical, laboratory, disease status, or therapeutic parameters (P > 0.050), except tumor necrosis factor alpha (TNF-α) serum levels (Spearman's correlation, rho = 0.382; P = 0.007). YKL-40 was highly expressed by inflammatory cells found in muscle biopsy specimens. Conclusions: High YKL-40 serum levels were observed in patients with ASSD and correlated positively with TNF-α serum levels. Moreover, YKL-40 was expressed by the inflammatory cells of the muscle tissue.

Increased modifiable cardiovascular risk factors in patients with Takayasu arteritis: a multicenter cross-sectional study

Abstract Background: Modifiable cardiovascular risk factors (MCRFs), such as those related to aerobic capacity, muscle strength, physical activity, and body composition, have been poorly studied in Takayasu arteritis (TAK). Therefore, the aim of the study was to investigate MCRFs and their relationships with disease status and comorbidities among patients with TAK. Methods: A multicenter cross-sectional study was conducted between 2019 and 2020, in which 20 adult women with TAK were compared with 16 healthy controls matched by gender, age, and body mass index. The following parameters were analyzed: aerobic capacity by cardiopulmonary test; muscle function by timed-stands test, timed up-and-go test, and handgrip test; muscle strength by one-repetition maximum test and handgrip test; body composition by densitometry; physical activity and metabolic equivalent by IPAQ, quality of life by HAQ and SF-36; disease activity by ITAS2010 and NIH score; and presence of comorbidities. Results: Patients with TAK had a mean age of 41.5 (38.0-46.3) years, disease duration of 16.0 (9.5-20.0) years, and a mean BMI of 27.7±4.5 kg/m2. Three out of the 20 patients with TAK had active disease. Regarding comorbidities, 16 patients had systemic arterial hypertension, 11 had dyslipidemia, and two had type 2 diabetes mellitus, while the control group had no comorbidities. TAK had a significant reduction in aerobic capacity (absolute and relative VO2 peak), muscle strength in the lower limbs, increased visceral adipose tissue, waist-to-hip ratio, reduced walking capacity, decreased weekly metabolic equivalent, and quality of life (P< 0.05) as compared to controls. However, there were no correlations between these MCRFs parameters and disease activity. Conclusions: TAK show impairment in MCRFs; therefore, strategies able to improve MCRF should be considered in this disease.(AU)

The relevance of anti-Jo-1 autoantibodies in patients with definite dermatomyositis

Abstract Background: To assess the prevalence and clinical relevance of anti-Jo-1 autoantibodies in a representative sample of patients with definite dermatomyositis (DM). Methods: This retrospective cohort study took place from 2005 to 2020 and assessed 118 adult patients from a tertiary center who were diagnosed with definite DM. A commercial kit was used to detect anti-Jo-1 autoantibodies. Results: The presence of anti-Jo-1 autoantibodies was observed in 10 out of 118 (8.5%) patients with definite DM. The following variables were comparable between individuals with and without anti-Jo-1 autoantibodies: age at diagnosis, sex, ethnicity, disease duration, follow-up period, recurrence rate, complete clinical response, death rate, and cancer incidence. There was no difference in clinical features between groups, except for an increased prevalence of "mechanic's hands," joint involvement, and lung disease, as well as a reduced occurrence of skin findings in patients positive for anti-Jo-1 autoantibodies. No anti-Jo-1-positive patients went into remission; they required greater use of glucocorticoids and immunosuppressive drugs. Conclusions: Anti-Jo-1 positivity was found in 8.5% of patients with definite DM. This autoantibody was associated with an antisynthetase syndrome phenotype and might predict clinical outcomes in patients with definite DM.(AU)

The Brazilian Society of Rheumatology recommendations on investigation and diagnosis of systemic autoimmune myopathies

Abstract Background: This research is recommended by the Myopathy Committee of the Brazilian Society of Rheumatology for the investigation and diagnosis of systemic autoimmune myopathies. Body: A systematic literature review was performed in the Embase, Medline (PubMed) and Cochrane databases, including studies published until October 2018. PRISMA was used for the review, and the articles were evaluated, based on the Oxford levels of evidence. Ten recommendations were developed addressing different aspects of systemic autoimmune myopathy investigation and diagnosis. Conclusions: The European League Against Rheumatism/ American College of Rheumatology (EULAR/ACR) classification stands out for the diagnosis of systemic autoimmune myopathies. Muscular biopsy is essential, aided by muscular magnetic resonance images and electroneuromyography in complementary research. Analysis of the factors related to prognosis with the evaluation of extramuscular manifestations, and comorbidities and intense investigation regarding differential diagnoses are mandatory.

Guidelines of the Brazilian Society of Rheumatology for the treatment of systemic autoimmune myopathies

Abstract Background: Recommendations of the Myopathy Committee of the Brazilian Society of Rheumatology for the management and therapy of systemic autoimmune myopathies (SAM). Main body: The review of the literature was done in the search for the Medline (PubMed), Embase and Cochrane databases including studies published until June 2018. The Prisma was used for the systematic review and the articles were evaluated according to the levels of Oxford evidence. Ten recommendations were developed addressing the management and therapy of systemic autoimmune myopathies. Conclusions: Robust data to guide the therapeutic process are scarce. Although not proven effective in controlled clinical trials, glucocorticoid represents first-line drugs in the treatment of SAM. Intravenous immunoglobulin is considered in induction for refractory cases of SAM or when immunosuppressive drugs are contra-indicated. Consideration should be given to the early introduction of immunosuppressive drugs. There is no specific period determined for the suspension of glucocorticoid and immunosuppressive drugs when individually evaluating patients with SAM. A key component for treatment in an early rehabilitation program is the inclusion of strengthbuilding and aerobic exercises, in addition to a rigorous evaluation of these activities for remission of disease and the education of the patient and his/her caregivers.

Frequency and clinical relevance of anti-Mi-2 autoantibody in adult Brazilian patients with dermatomyositis

Abstract Background: To analyze the frequency and clinical relevance of anti-Mi-2 autoantibody in a representative sample of patients with dermatomyositis. Methods: This longitudinal inception cohort study, from 2001 to 2017, included 87 definite adult dermatomyositis. Anti-Mi-2 analysis was performed using a commercial kit. Results: Seventeen patients (19.5%) had anti-Mi-2 and 70 (80.5%) did not have this autoantibody. The following parameters were equally distributed between the patients with versus without anti-Mi-2: mean age at the disease diagnosis onset, median follow-up time, constitutional symptoms (baseline), cutaneous cumulative lesions, dysphagia, joint and pulmonary involvement. There was also no difference between the groups in relation to follow-up time, disease relapsing, treatment, disease status, deaths and occurrence of neoplasia. In contrast, patients with anti-Mi2 antibodies had higher frequency of elevated serum levels of muscle enzymes at disease onset (median: creatine phosphokinase 6240 [3800-9148] U/L and aldolase 60.0 [35.0-138.0] U/L), lower frequency of pulmonary involvement at disease onset (5.9%), less current glucocorticoid dose (median: 0 [0-10] mg/day), and higher frequency of disease remission during follow-up (58.8%) in comparison with patients without anti-Mi-2 autoantibody (484 [115-4880] and 12.1 [6.3-70.0] U/L, 40.0%, 0 [0-10] mg/day, 27.1%, respectively). Conclusion: The anti-Mi-2 autoantibody was found in one fifth of patients with dermatomyositis. This autoantibody was associated with a lower occurrence of pulmonary involvement, a higher frequency of disease in remission, and elevated levels of muscle enzymes. There was also no correlation regarding the frequency of disease relapsing or neoplasia development.

Prevalence and reactivity of anti-melanoma differentiation-associated gene 5 (anti-MDA-5) autoantibody in Brazilian patients with dermatomyositis

Abstract: Background: There have been no studies to date on the frequency and reactivity of aanti-melanoma differentiation-associated gene 5 (anti-MDA-5) in samples from the Brazilian population with dermatomyositis. Objectives: To analyze this autoantibody in the Brazilian population. Methods: This was a single-center cross-sectional study in which 131 consecutive adult patients (109 dermatomyositis and 22 clinically amyopathic dermatomyositis) with active disease were evaluated from 2000 to 2016. Analysis of the anti-MDA-5 autoantibody was performed by ELISA. Results: The presence of this autoantibody was observed in 14.7% and 22.7% of patients with dermatomyositis and clinically amyopathic dermatomyositis, respectively. In the case of dermatomyositis, the autoantibody was associated less frequently with Raynaud's phenomenon and periungual hyperemia (P<0.05). In clinically amyopathic dermatomyositis, the presence of this autoantibody was not associated statistically with any demographic, clinical, laboratory, or imaging characteristics. Study limitations: The cross-sectional study design did not allow establishing a temporal correlation between anti-MDA-5 autoantibody and various study variables. In addition, pulmonary function tests were not performed in the patients. Conclusions: The frequency of anti-MDA-5 autoantibody was comparable to that of other populations with dermatomyositis, but with a different reactivity than described in the literature. In addition, there was a phenotypic variability between our patients with clinically amyopathic dermatomyositis and those described in the literature. Further studies are needed to confirm the current study's findings and elucidate this autoantibody's reactivity in Brazilians with idiopathic inflammatory myopathies.

Hyaluronic acid in dermatomyositis and polymyositis: relationship with disease and cutaneous lesions

Abstract: Background: There are scarce studies in the literature about hyaluronic acid in systemic autoimmune myopathies. Objectives: To analyze the serum level of hyaluronic acid in patients with dermatomyositis and polymyositis. Methods: Cross-sectional study, single-center, that evaluated hyaluronic acid in 18 dermatomyositis and 15 polymyositis (Bohan and Peter criteria), newly diagnosed, with clinical and laboratory activity, with no previous drug treatment. The patients were also age-, gender- and ethnicity-matched to 36 healthy individuals. The hyaluronic acid was analyzed by ELISA/EIA kit anti-hyaluronic acid. Results: There was a higher serum level of hyaluronic acid in patients with autoimmune myopathies, in relation to control group (P<0.05). Moreover, the serum level of this glycosaminoglycan was higher in dermatomyositis, when compared to polymyositis. Both groups were comparable with regard to demographic, clinical and laboratory data, except for the presence of skin lesions in the first group. Study limitations. The presence of hyaluronic acid in cutaneous lesions, particularly of patients with dermatomyositis, was not analyzed neither quantified. In addition, due to disease rarity and the establishment of strict inclusion and exclusion criteria, there was a small sample in the present study. Conclusions: As an example of others systemic autoimmune diseases, it is possible that the hyaluronic acid is involved in the pathogenesis of autoimmune myopathies, and particularly when associated with cutaneous lesions.

Patients with pure dermatomyositis/polymyositis and anti-PM/Scl autoantibody resembling anti-synthetase syndrome / Pacientes com dermatomiosite/polimiosite pura e autoanticorpo anti-pm/scl sememlhante à síndrome anti-sintetase

OBJECTIVE: The anti-PM/Scl autoantibody has been described in patients with scleromyositis. However, there are scant studies evaluating its prevalence and reactivity in dermatomyositis and polymyositis. METHOD: A cross-sectional, single center study evaluating the anti-PM/Scl autoantibody in 85 dermatomyositis and 32 polymyositis patients, without overlapping syndrome, was conducted between 2000 and 2016. Clinical data and complementary examinations were reviewed from electronic medical records with pre-parameterized information. RESULTS: The mean age of dermatomyositis and polymyositis patients was 41.1 and 42.8 years, respectively. The presence of anti-PM/Scl was observed in 5 (5.9%) dermatomyositis and 2 (6.3%) polymyositis patients. Two of these patients also had the anti-Ku antibody. The relevant clinical manifestations of these 7 patients were constitutional symptoms (100% of cases), muscular (100%), pulmonary (85.7%) and joint (71.4%) involvement, "mechanic hands" (85.7%), Raynaud phenomenon (85.7%) and plantar hyperkeratosis (85.7%). The 7 patients had relapses of disease activity, but at conclusion of the present study, 5 had complete clinical response and 2 complete remission of the disease. CONCLUSION: There is a low frequency of the anti-PM/Scl autoantibody in dermatomyositis and polymyositis patients. In addition, patients with this autoantibody exhibit a similar pattern of manifestations to that of antisynthetase syndrome.

OBJETIVO: O autoanticorpo anti-PM/Scl foi descrito em pacientes com escleromiosite. No entanto, há escassos estudos avaliando sua prevalência e reatividade em dermatomiosite (DM) e polimiosite (PM). MÉTODOS: Estudo transversal, num único centro, que avaliou o autoanticorpo anti-PM/Scl em 85 DM e 32 PM, sem síndrome de sobreposição, no período entre 2000 e 2016. Os dados clínicos e os exames complementares foram revisados a partir de registros médicos eletrônicos com informações pré-parametrizadas. RESULTADOS: A média de idade dos pacientes com DM e PM foi, respectivamente, de 41,1 e 42,8 anos. A presença de anti-PM/Scl foi observada em 5 (5,9%) DM e 2 (6,3%) pacientes com PM. Dois desses pacientes também possuíam o anticorpo anti-Ku. As manifestações clínicas relevantes desses 7 pacientes foram sintomas constitucionais (100% dos casos), envolvimento muscular (100%), pulmonar (85,7%) e articular (71,4%), "mãos mecânicas" (85,7%), fenômeno de Raynaud (85,7 %) e hiperqueratose plantar (85,7%). Os 7 pacientes apresentaram recidivas da atividade da doença, mas, no final do presente estudo, 5 apresentaram resposta clínica completa e 2 remissões completas da doença. CONCLUSÃO: Há uma baixa freqüência do autoanticorpo anti-PM/Scl em pacientes com DM e PM. Além disso, os pacientes com este autoanticorpo apresentam um padrão semelhante de manifestações para a síndrome da antisintetase.

Spontaneous pneumomediastinum in dermatomyositis: a case series and literature review / Pneumomediastino espontâneo na dermatomiosite: uma série de casos e revisão de literatura

OBJECTIVES: To describe a case series of spontaneous pneumomediastinum in dermatomyositis and to review the literature. METHODS: This was a retrospective single-center case series, reporting 9 patients with pneumomediastinum and defined dermatomyositis, followed from 2005 to 2017. RESULTS: Median age of patients: 33 years; cutaneous and pulmonary involvement in all cases; constitutional symptoms in 88.8% of patients; involvement of the joints in 11.1%, gastrointestinal tract in 44.4%, and muscles in 77.7%; subcutaneous emphysema was observed in 55.5% and pneumothorax in 11.1%, respectively. Muscle weakness was observed in 77.7% of cases and with a median level of serum creatine phosphokinase of 124U/L. Drawing on results for our literature review, the overall analysis showed that the risk factors associated with spontaneous pneumomediastinum were: (a) a history of interstitial pneumopathy; (b) normal or low levels of muscle enzymes; (c) previous use of systemic glucocorticoid; (d) over 50% of patients had subcutaneous emphysema; (e) high mortality as a consequence of severity of the interstitial lung disease. CONCLUSIONS: Our case series revealed that pneumomediastinum is a rare complication in dermatomyositis that occurs in patients with a history of interstitial pneumopathy and may be accompanied by subcutaneous emphysema and pneumothorax.

OBJETIVOS: Descrever série de casos de pneumomediastino espontâneo em portadores de dermatomiosite e revisar a literatura. MÉTODOS: Trata-se de série de casos, único centro, relatando 9 pacientes com pneumomediastino e dermatomiosite definida, acompanhados de 2005 a 2017. RESULTADOS: A mediana da idade dos pacientes foi de 33 anos. Sintomas constitucionais estavam presentes em 88,8% dos pacientes. Houve acometimento cutâneo e pulmonar em todos os casos, acometimento das articulações em 11,1%, trato gastrointestinal em 44,4% e musculatura em 77,7% dos pacientes. Enfisema subcutâneo foi observado em 55,5% e pneumotórax em 11,1%, respectivamente. A fraqueza muscular foi observada em 77,7% dos casos, com um nível médio de creatinofosfoquinase sérica de 124U/L. Com base nos resultados da revisão da literatura, a análise geral mostrou que: os fatores de risco associados ao pneumomediastino espontâneo foram: história de pneumopatia intersticial, níveis normais ou baixos de enzimas musculares, uso prévio de glicocorticoide sistêmico; >50% dos pacientes tiveram enfisema subcutâneo; houve alta mortalidade como consequência da gravidade da doença pulmonar intersticial. CONCLUSÕES: Nossa série de casos revelou que o pneumomediastino é uma complicação rara na dermatomiosite e que ocorre em pacientes com história de pneumopatia intersticial e pode ser acompanhada por enfisema subcutâneo e pneumotórax.

Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender / Policondrite recidivante: prevalência de doenças cardiovasculares e seus fatores de risco e características gerais da doença de acordo com o gênero

ABSTRACT The comorbidities in relapsing polychondritis have been scarcely described in the literature. Moreover, apart from a few relapsing polychondritis epidemiological studies, no studies specifically addressing relapsing polychondritis distribution according to gender are available. Therefore, the objectives of the present study were: (a) to analyze the prevalence of cardiovascular diseases and its risk factors in a series of patients with relapsing polychondritis; (b) to determine the influence of gender on relapsing polychondritis. A cross-sectional tertiary single center study evaluating 30 relapsing polychondritis cases from 1990 to 2016 was carried out. To compare comorbidities, 60 healthy individuals matched for age-, gender-, ethnicity- and body mass index were recruited. The mean age of relapsing polychondritis patients was 49.0 ± 12.4 years, the median disease duration 6.0 years, and 70% were women. A higher frequency of arterial hypertension (53.3% vs. 23.3%; p = 0.008) and diabetes mellitus (16.7% vs. 3.3%; p = 0.039) was found in the relapsing polychondritis group, compared to the control group. As an additional analysis, patients were compared according to gender distribution (9 men vs. 21 women). The clinical disease onset features were comparable in both genders. However, over the follow-up period, male patients had a greater prevalence of hearing loss, vestibular disorder and uveitis events, and also received more cyclophosphamide therapy (p < 0.05). There was a high prevalence of arterial hypertension and diabetes mellitus, and the male patients seemed to have worse prognosis than the female patients in the follow up.

RESUMO Há escassez de estudos na literatura sobre as comorbidades na policondrite recidivante (PR). Além disso, exceto por alguns estudos epidemiológicos sobre a PR, não existem trabalhos que analisem especificamente a distribuição da PR de acordo com o gênero. Portanto, os objetivos do presente estudo foram: (a) analisar a prevalência de doenças cardiovasculares e seus fatores de risco em uma série de pacientes com PR; (B) determinar a influência do gênero na PR. Fez-se um estudo transversal unicêntrico que avaliou 30 casos de PR entre 1990 e 2016. Para comparar as comorbidades, foram recrutados 60 indivíduos saudáveis pareados por idade, gênero, etnia e índice de massa corporal. A idade média dos pacientes com PR foi de 49,0 ± 12,4 anos. A duração média da doença foi de 6,0 anos e 70% eram mulheres. Foi observada uma maior frequência de hipertensão arterial (53,3% vs. 23,3%, p = 0,008) e diabetes mellitus (16,7% vs. 3,3%; p = 0,039) no grupo PR em comparação com o grupo controle. Em uma análise adicional, os pacientes foram comparados de acordo com a distribuição de gênero (nove homens versus 21 mulheres). As características clínicas iniciais da doença foram comparáveis em ambos os sexos. No entanto, durante o período de seguimento, os pacientes do sexo masculino tiveram maior prevalência de perda auditiva, envolvimento vestibular e eventos de uveíte e também receberam mais tratamento com ciclofosfamida (p < 0,05). Houve uma alta prevalência de hipertensão arterial e diabetes mellitus e os pacientes do sexo masculino apresentaram pior prognóstico do que as pacientes do sexo feminino no seguimento.

The expression of gene ANKRD1 correlates with hypoxia status in muscle biopsies of treatment-näive adult dermatomyositis / A expressão do gene ankrd1 correlaciona-se com o status de biópsias musculares em adultos portadores de dermatomiosite sem exposição prévia a tratamento

OBJECTIVES. The ANKRD1 gene codes for the ankyrin repeat domain containing protein 1 and has an important role in myogenesis and possibly also in angiogenesis. Microvasculopathy is a cornerstone and an early pathological marker of change in dermatomyositis, leading to hypoxia and muscle perifascicular atrophy. These alterations could upregulate genes involved in myogenesis and angiogenesis such as ANKRD1. Therefore, we analyzed ANKRD1 expression in muscle biopsies of dermatomyositis and correlated with other hypoxia parameters and with histological changes. METHODS. Total RNA was extracted from frozen muscle biopsies samples of 29 dermatomyositis patients. A control group consisted of 20 muscle biopsies from adult patients with non-inflammatory myopathy diseases. The gene coding for hypoxia-inducible factor 1, alpha subunit (HIF1A), was analyzed to estimate the degree of hypoxia. ANKRD1 and HIF1A transcript expression levels were determined by quantitative real time PCR. RESULTS. Significantly higher ANKRD1 and HIF1A expression levels were observed in dermatomyositis relative to the control group (P<0.001, both genes). In addition, ANKRD1 and HIF1A were coexpressed (r=0.703, P=0.001) and their expression levels correlated positively to perifascicular atrophy (r=0.420, P=0.023 and r=0.404, P=0.030, respectively). CONCLUSIONS. Our results demonstrate ANKRD1 overexpression in dermatomyositis correlated to HIF1A expression and perifascicular atrophy. ANKRD1 involvement in myogenesis and angiogenesis mechanisms indicates that further investigation is worthwhile.

OBJETIVOS: ANKRD1 codifica "ankyrin repeat domain containing protein 1" e tem um papel importante na miogênese e possivelmente também na angiogênese. Microvasculopatia é considerada como um ponto central e uma alteração patológica precoce na dermatomiosite (DM), levando à hipóxia e à atrofia perifascicular muscular. Estas alterações poderiam estimular genes envolvidos na miogênese e angiogênese como ANKRD1. Portanto, analisamos a expressão de ANKRD1 em biópsias musculares de DM e correlacionamos com outros parâmetros de hipóxia e alterações histológicas. MÉTODOS: O RNA total foi extraído de biópsias de músculos congelados de 29 pacientes com DM. Como grupo controle, foram usadas 20 biópsias de músculo de pacientes adultos com miopatia não-inflamatória. O gene que codifica a subunidade alfa do fator 1 induzido por hipóxia (HIF1A) foi analisado para estimar o grau de hipóxia. Os níveis de expressão dos transcritos ANKRD1 e HIF1A foram determinados por PCR quantitativa em tempo real. RESULTADOS: Níveis aumentados de expressões de ANKRD1 e HIF1A foram observados em DM quando comparados ao grupo controle (P<0,001, ambos os genes). Além disso, ANKRD1 e HIF1A apresentaram coexpressão (r=0,703, P=0,001) e seus níveis de expressão correlacionaram-se também positivamente com atrofia perifascicular (r=0,420, P=0,023 e r=0,404, P=0,030, respectivamente). CONCLUSÕES: Nossos resultados demonstraram aumento de expressão de ANKRD1 na DM, que correlacionou com a expressão de HIF1A e atrofia perifascicular. Investigações adicionais do envolvimento de ANKRD1 no mecanismo de miogênese e angiogênese devem ser realizadas.

Morphological alterations of upper gastrointestinal tract in patients with new onset-dermatomyositis: correlation with demographic, clinical and laboratory features / Alterações morfológicas do trato intestinal superior em portadores de dermatomiosite de instalação recente: correlações com características demográficas, clínicas e laboratoriais

OBJECTIVE: To endoscopically assess the upper digestive tract of adult patients with newly diagnosed dermatomyositis; to correlate possible changes in the gastrointestinal tract with demographic, clinical and laboratory features in this population. METHOD: A cross-sectional study evaluating 65 newly diagnosed dermatomyositis cases from 2004 to 2015 was carried out. We excluded patients with clinically amyopathic dermatomyositis, overlap dermatomyositis, polymyositis, liver diseases, prior gastric surgery, upper gastrointestinal tract symptoms (except for upper dysphagia), systemic infections, alcohol consumption and smoking. RESULTS: Mean age of patients was 44.9 years, with disease duration of four months. Endoscopic findings were observed in 70.8% of patients. (1) Esophageal disease/gastric distress was documented in 18.5% of patients: erosive distal esophagitis (16.9%) and non-erosive distal esophagitis distal (1.5%); (2) gastric distress in 63.1% of cases: antral gastritis (42.3%) and pangastritis (27.8%); (3) duodenal involvement in 15.4% of patients: bulbar duodenitis (10.9%) and duodenal ulcers (7.7%). There were no neoplasic lesions. On multivariate analysis, erosive distal esophagitis was less associated with older patients. Males had a higher prevalence of erosive gastritis. Enanthematous pangastritis was less associated with lesions with "V-neck" sign lesions. CONCLUSIONS: This study provides the first estimates of the prevalence of high endoscopic findings in adult patients with newly diagnosed dermatomyositis. The results may be relevant to guide conduct in digestive disorders with upper digestive endoscopy, and point to the need for pharmacological prevention of digestive tract lesions in these patients. Further studies are needed to validate this data and evaluate patients with dyspeptic symptoms.

OBJETIVOS: Avaliar os exames de endoscopia digestiva alta (EDA) de pacientes adultos com DM (dermatomiosite) recém-diagnosticados; correlacionar eventuais alterações do trato gastrintestinal com dados demográficos, clínicos, e medicamentosos desta população. MÉTODO: Estudo transversal, em que foram avaliados 65 casos de DM recém-diagnosticados, no período entre 2004 a 2015. Foram excluídos casos de DM clinicamente amiopática, sobreposição com DM, hepatopatias, cirurgia gástrica prévia, sintomas do trato gastrointestinal (exceto disfagia alta), quadros infecciosos sistêmicos, etilismo e tabagismo. RESULTADOS: A média idade dos pacientes foi de 44,9 anos, com um tempo de sintomas atribuídos a DM de quatro meses. Alterações endoscópicas foram encontradas em 70,8% dos pacientes. O acometimento esofágico/gástrico foi documentado em 18,5% dos pacientes: esofagite distal erosiva (16,9%) e esofagite distal não-erosiva (1,5%); alterações gástricas em 63,1% dos casos: gastrite antral (42,3%) e pangastrite (27,8%); o acometimento duodenal em 15,4% dos pacientes: bulboduodenite (10,9%) e úlcera duodenal (7,7%). Não foram detectadas lesões malignas. Em análise multivariada, a esofagite distal erosiva esteve menos associada a indivíduos de idade maior. Sexo masculino apresentava mais diagnóstico de gastrite erosiva. A pangastrite enantemática esteve menos associada a lesões em "V" do decote. CONCLUSÕES: O presente estudo estima, pela primeira vez, a prevalência de alterações endoscópicas altas em pacientes adultos com DM recém-diagnosticada. Os resultados podem ser relevantes para guiar potenciais alterações digestivas com exame de EDA, bem como apontar para necessidade de prevenção medicamentosa de lesões do trato digestivo nestes pacientes.

Could C-reactive protein and erythrocyte sedimentation rate support monitoring of dermatomyositis and polymyositis activity? / É possível supor que a proteína c reativa e a hemossedimentação possam ser usadas para monitorar a atividade da dermatomiosite e da polimiosite?

OBJECTIVES: To evaluate serum levels of C-reactive protein and erythrocyte sedimentation rates in patients with untreated newly diagnosed dermatomyositis or polymyositis and their correlation with clinical and laboratory parameters. METHODS: A cross-sectional study including 48 consecutive patients with untreated newly diagnosed dermatomyositis and polymyositis reviewed between 2002 and 2015 was conducted. Fifty healthy subjects were enrolled as controls. RESULTS: Patients with dermatomyositis and polymyositis had higher levels of C-reactive protein and erythrocyte sedimentation rate than healthy controls, but these values were not associated with clinical or laboratory parameters of disease activity either for dermatomyositis or for polymyositis. Additionally, erythrocyte sedimentation rate values correlated with pulmonary involvement as evidenced through computer tomography imaging (OR 1.15; 95%CI 1.01-1.31) only in patients with polymyositis. CONCLUSIONS: Although elevated, C-reactive protein and erythrocyte sedimentation rate are not sensitive parameters for measuring clinical and laboratory activity of dermatomyositis nor for polymiositis. However, erythrocyte sedimentation rate may be a valid parameter for screening pulmonary involvement, particularly in patients with polymyositis.

OBJETIVOS: Avaliar os níveis séricos da proteína C reativa (PCR) e da velocidade de hemossedimentação (VHS) em pacientes recém-diagnosticados com dermatomiosite (DM) e polimiosite (PM), sem tratamento prévio, correlacionando-os com parâmetros clínico-laboratoriais. MÉTODOS: Estudo transversal que incluiu 48 pacientes consecutivos com DM e PM (critérios de Bohan e Peter) recém-diagnosticados, sem tratamento medicamentoso, no período de 2002 a 2015. Foram incluídos 50 indivíduos saudáveis como grupo controle. RESULTADOS: Os pacientes apresentaram níveis mais elevados de VHS e PCR comparativamente aos controles saudáveis. Estes valores, porém, não se correlacionaram com os parâmetros clínicos e laboratoriais da atividade da doença (DM e PM). Somente em pacientes com PM a VHS apresentou relação com acometimento pulmonar na tomografia computadorizada [OR 1,15 (IC 95% 1,01-1,31)]. CONCLUSÕES: Apesar de aumentadas, a PCR e a VHS não são parâmetros sensíveis para a mensuração da atividade clínica e laboratorial de DM e PM., No entanto, a VHS pode ter validade no rastreio do acometimento pulmonar, particularmente em pacientes com PM.