RESUMO
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)
Assuntos
Humanos , Adulto , Autoanticorpos/análise , Dermatomiosite/fisiopatologia , Histidina-tRNA Ligase/sangue , Estudos Retrospectivos , Estudos de Coortes , Doenças Musculares/fisiopatologiaRESUMO
BACKGROUND: This study was aimed at evaluating the aerobic capacity of patients with antisynthetase syndrome (ASS) and dermatomyositis (DM) and analyzing possible relationships between aerobic capacity and disease status, cardiovascular diseases and their risk factors. METHODS: The study was a cross-sectional, single-center study that assessed the aerobic capacity of 22 women (13 with DM and 9 with ASS) who were matched by age and body mass index to 17 healthy women (control group). The aerobic capacity (oxygen uptake [VO2 peak], anaerobic threshold, respiratory compensation point and time-to-exhaustion) was evaluated using the cardiopulmonary treadmill test. Disease status was assessed using International Myositis Assessment & Clinical Studies Group (IMACS) set scores. RESULTS: The patients had low IMACS parameters that showed low or absent disease activity. The distribution of cardiovascular diseases and their risk factors was similar between the patients and the control group (P > 0.05) at the time of the analysis. The patients with DM and the control group had similar aerobic capacity. However, the patients with ASS exhibited significantly reduced aerobic capacity (relative VO2 peak, anaerobic threshold, respiratory compensation point and time to exhaustion) when compared to the control group. In addition, patients with ASS had a lower anaerobic threshold compared to the DM group. There were no significant relationships between the aerobic capacity and disease status, cardiovascular diseases and their risk factors. CONCLUSION: In contrast to DM patients and healthy individuals, patients with stable ASS have significantly impaired aerobic capacity, which is unlikely to be totally explained by traditional cardiovascular diseases, their risk factors and disease status. Further studies are needed to corroborate our data and to clarify the cause of this reduced aerobic capacity in ASS.
Assuntos
Dermatomiosite/fisiopatologia , Miosite/fisiopatologia , Consumo de Oxigênio/fisiologia , Adulto , Limiar Anaeróbio/fisiologia , Estudos de Casos e Controles , Estudos Transversais , Dermatomiosite/metabolismo , Tolerância ao Exercício , Feminino , Testes de Função Cardíaca , Humanos , Miosite/metabolismo , Fatores de RiscoRESUMO
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.
Assuntos
Humanos , Autoanticorpos/análise , Dermatomiosite/fisiopatologia , Remissão Espontânea , Brasil , Estudos de Coortes , Estudos LongitudinaisRESUMO
INTRODUCTION: Dermatomyositis is an autoimmune disease and the most common idiopathic inflammatory myopathy. During patient follow-up, determining biochemical parameters is required in order to assess for disease activity and treatment efficacy. OBJECTIVE: To determine the relationship between the degree of activation of the complement system through the soluble membrane attack complex (c5b-9), dermatomyositis clinical activity and its variations with conventional treatment. METHOD: Forty-five patients with active and inactive dermatomyositis were studied. Chemical parameters and clinical severity were established and correlated with ELISA-determined C5b-9 serum levels. RESULTS: There was positive correlation between dermatomyositis cutaneous and muscular activity and C5b-9 serum levels, which was lower than with traditional biochemical markers. In the case of treatment response, C5b-9 showed significant reduction, similar to clinical severity; with biochemical parameters, the reduction was not significant at one month of treatment with systemic steroids. CONCLUSIONS: Serum levels of C5b-9 levels of C5b-9 are higher in patients with dermatomyositis than in healthy subjects; dermatomyositis active and inactive cases were determined by means of their measurement. They can be a reliable parameter of therapeutic response, more accurate than muscle enzymes measurement, particularly creatine phosphokinase.
INTRODUCCIÓN: La dermatomiositis es una enfermedad autoinmune y es la más común de las miopatías inflamatorias idiopáticas. Durante el seguimiento de los pacientes se requiere determinar parámetros bioquímicos para precisar la actividad de la enfermedad y la eficacia de los tratamientos. OBJETIVO: Definir la relación entre el grado de activación del sistema del complemento a través del complejo soluble de ataque a membrana (C5b-9), la actividad clínica de la dermatomiositis y sus variaciones con el tratamiento convencional. MÉTODO: Se estudiaron 45 pacientes con dermatomiositis activa e inactiva. Se establecieron parámetros bioquímicos, severidad clínica y se correlacionaron con los niveles séricos de C5b-9, determinados mediante ELISA. RESULTADOS: Existió correlación positiva entre la actividad cutánea y muscular de la dermatomiositis y los niveles séricos de C5b-9, menor que con los marcadores bioquímicos tradicionales. En la respuesta al tratamiento, C5b-9 mostró reducción significativa, similar a la severidad clínica; con los parámetros bioquímicos, la reducción no fue significativa a un mes de tratamiento con esteroides sistémicos. CONCLUSIONES: Los niveles séricos de C5b-9 en pacientes con dermatomiositis están más elevados que en los sujetos sanos; con su medición se identificaron los casos activos e inactivos de dermatomiositis. Pueden ser un parámetro fiable de respuesta terapéutica, más precisos que la medición de enzimas musculares, particularmente creatinfosfosquinasa.
Assuntos
Ativação do Complemento/imunologia , Complexo de Ataque à Membrana do Sistema Complemento/imunologia , Dermatomiosite/fisiopatologia , Adulto , Biomarcadores/metabolismo , Dermatomiosite/tratamento farmacológico , Dermatomiosite/imunologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Esteroides/uso terapêutico , Resultado do TratamentoAssuntos
Autoanticorpos/imunologia , Dermatomiosite/imunologia , Adulto , Idade de Início , Biomarcadores/metabolismo , Criança , Dermatomiosite/epidemiologia , Dermatomiosite/fisiopatologia , Dermatomiosite/terapia , Progressão da Doença , Feminino , Heterogeneidade Genética , Humanos , Células Matadoras Naturais/imunologia , MasculinoRESUMO
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.
Assuntos
Humanos , RNA/análise , Desenvolvimento Muscular , Dermatomiosite/fisiopatologia , HipóxiaRESUMO
Abstract Introduction: To date, there are no descriptions in the literature on gynecologic and sexual function evaluation in female patients with dermatomyositis (DM) and polymyositis (PM). Objective: To assess sexual function in female patients with DM/PM. Patients and methods: This is a monocentric, cross-sectional study in which 23 patients (16 DM and 7 PM), with ages between 18 and 40 years, were compared to 23 healthy women of the same age group. Characteristics on sexual function were obtained by applying the questionnaires Female Sexual Quotient (FSQ) and Female Sexual Function Index (FSFI) validated for the Brazilian Portuguese language. Results: The mean age of patients was comparable to controls (32.7 ± 5.3 vs. 31.7 ± 6.7 years), as well as the distribution of ethnicity and socioeconomic class. As for gynecological characteristics, patients and healthy controls did not differ with respect to age at menarche and percentages of dysmenorrhea, menorrhagia, premenstrual syndrome, pain at mid-cycle, mucocervical secretion, and vaginal discharge. The FSQ score, as well as all domains of the FSFI questionnaire (desire, arousal, lubrication, orgasm and satisfaction), were significantly decreased in patients vs. controls, with 60.9% of patients showing some degree of sexual dysfunction. Conclusions: This was the first study to identify sexual dysfunction in patients with DM/PM. Therefore, a multidisciplinary approach is essential for patients with idiopathic inflammatory myopathies, in order to provide prevention and care for their sexual life, providing a better quality of life, both for patients and their partners.
Resumo Introdução: Até o presente momento, não há descrições na literatura da avaliação ginecológica e da função sexual em pacientes do sexo feminino com dermatomiosite (DM) e polimiosite (PM). Objetivos: Avaliar a função sexual em pacientes do sexo feminino com DM/PM. Casuística e métodos: Estudo transversal unicêntrico em que 23 pacientes (16 DM e sete PM), entre 18 e 40 anos, foram comparadas com 23 mulheres saudáveis, com a mesma faixa etária. As características sobre a função sexual foram obtidas por meio da aplicação dos questionários Female Sexual Quotient (FSQ) e Female Sexual Function Index (FSFI) validados para a língua portuguesa do Brasil. Resultados: A média de idade das pacientes foi comparável à dos controles (32,7 ± 5,3 vs. 31,7 ± 6,7 anos), assim como a distribuição de etnia e da classe socioeconômica. Quanto às características ginecológicas, pacientes e controles saudáveis não apresentaram diferenças em relação à idade na menarca e às porcentagens de dismenorreia, menorragia, síndrome pré-menstrual, dor no meio do ciclo, secreção mucocervical e corrimento vaginal. O escore de pontuação do FSQ, assim como todos os domínios do questionário do FSFI (desejo, excitação, lubrificação, orgasmo e satisfação), estavam significantemente diminuídos nas pacientes comparativamente com os controles, 60,9% das pacientes apresentavam algum grau de disfunção sexual. Conclusões: Este foi o primeiro estudo que identificou disfunção sexual nas pacientes com DM/PM. Assim, uma abordagem multidisciplinar é essencial para pacientes com miopatias inflamatórias idiopáticas para fornecer medidas de prevenção e cuidados para sua vida sexual e propiciar uma melhor qualidade de vida das pacientes e de seus parceiros.
Assuntos
Humanos , Feminino , Adulto , Adulto Jovem , Disfunções Sexuais Fisiológicas/complicações , Disfunções Sexuais Fisiológicas/fisiopatologia , Inquéritos e Questionários , Polimiosite/complicações , Polimiosite/fisiopatologia , Disfunções Sexuais Psicogênicas/complicações , Disfunções Sexuais Psicogênicas/fisiopatologia , Dermatomiosite/complicações , Dermatomiosite/fisiopatologia , Qualidade de Vida , Disfunções Sexuais Fisiológicas/psicologia , Disfunções Sexuais Fisiológicas/epidemiologia , Brasil/epidemiologia , Comorbidade , Estudos Transversais , Polimiosite/psicologia , Polimiosite/epidemiologia , Disfunções Sexuais Psicogênicas/psicologia , Disfunções Sexuais Psicogênicas/epidemiologia , Dermatomiosite/psicologia , Dermatomiosite/epidemiologiaRESUMO
INTRODUCTION: To date, there are no descriptions in the literature on gynecologic and sexual function evaluation in female patients with dermatomyositis (DM) and polymyositis (PM). OBJECTIVE: To assess sexual function in female patients with DM/PM. PATIENTS AND METHODS: This is a monocentric, cross-sectional study in which 23 patients (16 DM and 7 PM), with ages between 18 and 40 years, were compared to 23 healthy women of the same age group. Characteristics on sexual function were obtained by applying the questionnaires Female Sexual Quotient (FSQ) and Female Sexual Function Index (FSFI) validated for the Brazilian Portuguese language. RESULTS: The mean age of patients was comparable to controls (32.7±5.3 vs. 31.7±6.7 years), as well as the distribution of ethnicity and socioeconomic class. As for gynecological characteristics, patients and healthy controls did not differ with respect to age at menarche and percentages of dysmenorrhea, menorrhagia, premenstrual syndrome, pain at mid-cycle, mucocervical secretion, and vaginal discharge. The FSQ score, as well as all domains of the FSFI questionnaire (desire, arousal, lubrication, orgasm and satisfaction), were significantly decreased in patients vs. controls, with 60.9% of patients showing some degree of sexual dysfunction. CONCLUSIONS: This was the first study to identify sexual dysfunction in patients with DM/PM. Therefore, a multidisciplinary approach is essential for patients with idiopathic inflammatory myopathies, in order to provide prevention and care for their sexual life, providing a better quality of life, both for patients and their partners.
Assuntos
Dermatomiosite/complicações , Dermatomiosite/fisiopatologia , Polimiosite/complicações , Polimiosite/fisiopatologia , Disfunções Sexuais Fisiológicas/complicações , Disfunções Sexuais Fisiológicas/fisiopatologia , Disfunções Sexuais Psicogênicas/complicações , Disfunções Sexuais Psicogênicas/fisiopatologia , Inquéritos e Questionários , Adulto , Brasil/epidemiologia , Comorbidade , Estudos Transversais , Dermatomiosite/epidemiologia , Dermatomiosite/psicologia , Feminino , Humanos , Polimiosite/epidemiologia , Polimiosite/psicologia , Qualidade de Vida , Disfunções Sexuais Fisiológicas/epidemiologia , Disfunções Sexuais Fisiológicas/psicologia , Disfunções Sexuais Psicogênicas/epidemiologia , Disfunções Sexuais Psicogênicas/psicologia , Adulto JovemAssuntos
Dermatomiosite , Psoríase , Pele/patologia , Ustekinumab/administração & dosagem , Fármacos Dermatológicos/administração & dosagem , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Dermatomiosite/tratamento farmacológico , Dermatomiosite/fisiopatologia , Humanos , Masculino , Psoríase/complicações , Psoríase/diagnóstico , Psoríase/tratamento farmacológico , Psoríase/fisiopatologia , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVES: To objectively measure physical activity levels in a cohort of juvenile dermatomyositis (JDM) patients; to compare physical capacity and health-related quality of life in JDM patients and their healthy controls (CTRL) matched by physical activity levels; and to associate physical activity variables with disease-related parameters, physical capacity, and health-related quality of life. METHODS: This was a cross-sectional study in which 19 JDM patients and 19 CTRL matched by physical activity levels, age, sex, and body mass index were compared. Physical activity was objectively measured using accelerometers. RESULTS: In our cohort, only one of the 19 JDM patients (5%) achieved the minimum recommended moderate-to-vigorous physical activity levels (MVPA) (i.e., minimum of 60min/day). JDM showed lower aerobic condition (e.g., VO2peak), muscle function (e.g., timed-stands test), and health-related quality of life in comparison to CTRL (p < 0.05). Sedentary time was positively correlated with disease duration (r = 0.649; p = 0.003), and negatively with VO2peak (r = -0.459; p = 0.048). Moreover, MVPA was negatively associated with disease duration (r = -0.509; p = 0.026), and positively associated with VO2peak (r = 0.797; p < 0.001), and current use of corticoid (r = 0.748; p < 0.001). CONCLUSION: Physical capacity and health-related quality of life were reduced in JDM patients when compared with CTRL matched by physical activity levels, suggesting that the disease itself and/or glucocorticoid use may adversely affect overall health in JDM, despite an apparently well-controlled disease. Physical (in)activity correlated with important disease-related and physical capacity parameters, suggesting that sedentary lifestyle may be an important, but preventable, factor associated with poor overall health in JDM.