Abstract In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.

Resumo Nas últimas décadas, houve progressos significativos no diagnóstico e no tratamento da distrofia muscular de Duchenne (DMD), considerada a distrofia muscular mais comum na infância. Diretrizes internacionais foram publicadas e revisadas recentemente. Um grupo de especialistas brasileiros desenvolveu um padrão de atendimento baseado em revisão de literatura, com recomendações graduadas pautadas em evidências compiladas em uma publicação dividida em duas partes. A implementação de melhores práticas de manejo ajudou a modificar a história natural desta doença crônica, progressiva, que, no passado, oferecia uma expectativa de vida muito limitada para crianças do sexo masculino. Desde a publicação desse consenso anterior, o diagnóstico, o tratamento com esteroides, a reabilitação e os cuidados sistêmicos ganharam novas possibilidades a partir da divulgação dos resultados de trabalhos originais em algumas dessas áreas. Além disso, as pesquisas e o desenvolvimento de novos fármacos estão em andamento, e algumas intervenções já foram aprovadas para uso em determinados países. Nesse contexto, identificamos a necessidade de rever as recomendações anteriores sobre o manejo dos pacientes brasileiros com DMD. Nosso objetivo principal foi elaborar uma atualização baseada em evidências sobre esses tópicos do consenso.

Abstract Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by reduced or absent activity of the enzyme α-galactosidase A. Due to systemic accumulation of glycolipids, FD phenotype is diverse, and diagnosis may be challenging. Clinical manifestations include small fiber neuropathy, renal dysfunction, cardiac involvement, cerebrovascular disease, among others. In the present study, we describe biopsy proven small fiber neuropathy and subclinical cardiac involvement in two cousins diagnosed with FD secondary to a recently described pathogenic variant, highlighting the importance of diagnostic tools to document organ damage and allow early treatment. (FD Xlinked X linked αgalactosidase α galactosidase A glycolipids diverse challenging dysfunction others study variant treatment

Abstract Background: Cardiovascular diseases (CVDs) are responsible for many deaths in Brazil and in the world, especially in the economically active population. Risk factors for these diseases include comorbidities such as high blood pressure (HBP), diabetes mellitus (DM) and dyslipidemia. Innovation of portable technology combined with the high prevalence of CVDs motivated the development of the ASCVD Risk Estimator by the American Heart Association/American College of Cardiology. Objectives: Estimate the cardiovascular risk of patients hospitalized in the internal medicine wards of Gaffrée e Guinle University Hospital (HUGG) using the ASCVD Risk Estimator, and describe the main risk factors in this population. Methods: A prospective, cross-sectional study was conducted, the following data were collected from the medical records: sex, age, ethnicity, presence of HBP, DM, systolic arterial pressure, smoking habits, total cholesterol and HDL levels. Statistical analysis was performed by the chi-square test, with calculation of p-value, relative risk and confidence interval in the correlations. Results: A total of 339 medical records were reviewed, and 72 (21.2%) fulfilled the inclusion and exclusion criteria. Twenty-three (32%) patients were classified as at high cardiovascular risk by the application. The main risk factors in the high risk group were age greater than or equal to 60 years (n = 21; 91.30%), dyslipidemia (n = 15; 65,2%), high blood pressure (n = 15; 65.2%), male sex (n = 13; n = 56.5%) and smoking (n = 11; 47.8%). Conclusion: Approximately one third of the study population had a high cardiovascular risk; HBP and dyslipidemia were the most prevalent modifiable risk factor in the high risk group. We may say that there is no single protocol or score available able to estimate the cardiovascular risk of all individuals in the same way, and therefore, the physician must individually evaluate the patients and be updated on the best methods of disease prevention to improve current approaches.