RESUMEN
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder resulting from loss of dystrophin. In addition to its role in muscle, isoforms of dystrophin are expressed in different cell types of the brain, and DMD has been linked to language delays, behavioral abnormalities and learning disabilities. OBJECTIVE: To determine whether disruption of specific DMD isoforms, age, corticosteroid use, ambulation status, or country are associated with behavioral and/or learning concerns in DMD. METHODS: De-identified data were collected from the Duchenne Registry from 2007-2019. Females, patients with BMD, and those without genetic testing reports were excluded from the cohort. For the genetic analysis, patients were divided into four subgroups based on the location of their mutation and the predicted isoforms affected. Bivariate analysis was conducted using chi-square for categorical variables. Two multivariate logistic regressions were used to assess independent associations with behavioral and learning concerns, respectively, and to estimate the effect size of each variable. RESULTS: DMD mutations disrupting expression of Dp140 and Dp71 were associated with a higher likelihood of reported behavioral and learning concerns. Corticosteroid use, categorical age, and country were other factors associated with behavior and learning concerns. CONCLUSION: This data adds to our current understanding of DMD isoforms, their mutational consequence and impact on behavior and learning.
Asunto(s)
Distrofina , Distrofia Muscular de Duchenne , Humanos , Corticoesteroides/uso terapéutico , Distrofina/genética , Distrofina/metabolismo , Distrofia Muscular de Duchenne/genética , Isoformas de Proteínas/genética , Autoinforme , MasculinoRESUMEN
BACKGROUND: Aspirin is commonly used as the only pharmacologic agent for prevention of venous thromboembolism (VTE) after joint replacement surgery in the United States. Despite this, prospective studies investigating VTE events after aspirin-only thromboprophylaxis in joint replacement surgery are lacking in the real-world setting. OBJECTIVES: The aim of this study was to estimate the risk of VTE with aspirin-only pharmacologic prophylaxis following joint replacement surgery. METHODS: We carried out a prospective observational study of 350 low-risk patients (no prior history of VTE and low cardiovascular risk factors) who underwent total knee and total hip arthroplasty and received only aspirin for thromboprophylaxis postoperatively. RESULTS: The observed risk of symptomatic VTE was 1.7% (95% confidence interval, 0.9%-3.3%) over 3 months of follow up, with only one major bleeding event and no surgical hematomas. CONCLUSION: The risk of VTE with aspirin monotherapy for thromboprophylaxis in joint replacement surgery in this real-world cohort was higher than previously reported.