Associations Between Self-Reported Behavioral and Learning Concerns and DMD Isoforms in Duchenne Muscular Dystrophy.

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.

Elimination of Routine Urinalysis before Elective Orthopaedic Surgery Reduces Antibiotic Utilization without Impacting Catheter-associated Urinary Tract Infection or Surgical Site Infection Rates.

PURPOSE: Routine preoperative urinalysis has been the standard of care for the orthopedic population for decades, regardless of symptoms. Studies have demonstrated antibiotic overuse and low concordance between bacteria cultured from the surgical wound and the urine. Testing and treatment of asymptomatic urinary tract colonization before total joint arthroplasty (TJA) is unnecessary and increases patient risk. We investigated reducing antibiotic use by (1) modifying testing algorithms to target patients at risk, (2) modifying reflex to culture criteria, and (3) providing treatment guidelines. MATERIALS AND METHODS: A pre-post study was conducted to determine identify the impact of eliminating universal urinalysis prior to TJA on surgical site infection (SSI) and catheter-associated urinary tract infection (CAUTI) rates and number of antibiotic prescriptions. Patients who underwent primary hip or knee TJA or spinal fusions from February 2016 to March 2018 were included. Patient data was collected for pre- and post-practice change period (February 2016-October 2016 and August 2017-March 2018). Patient demographics, urinalysis results, cultures, and prescriptions were analyzed retrospectively from every tenth chart in the pre-period and prospectively on all patients in the post-period. RESULTS: A total of 4,663 patients were studied. There was a 96% decrease in urinalyses performed (P<0.0001), and a 93% reduction rate in antibiotic utilization (P<0.001). No significant difference in SSI and CAUTI rates was observed (P>0.05). CONCLUSION: The elimination of routine urinalysis before orthopedic surgery resulted in a reduction in antibiotic utilization with no significant change in the SSI or CAUTI rates. Cost savings resulted from reduced antibiotic usage.

Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors.

INTRODUCTION: In this study we investigate associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy (DMD). METHODS: Data were collected from the Duchenne Registry from 2007 to 2019, and then used to assess the impact genotype, race/ethnicity, neighborhood poverty levels, and other sociodemographics factors have on the age of diagnosis of DMD patients without a known family history, using univariate and multivariable linear regression. RESULTS: The mean age of diagnosis was 4.43 years. Non-Caucasian patients and patients from high-poverty neighborhoods were older at diagnosis (P < .01). Increased year of birth was associated with decreasing age of diagnosis (P < .001). Specific genetic mutation subtypes were associated with later ages of symptom onset and diagnosis (P = .005). DISCUSSION: After adjusting for genotype and year of birth, the average age of diagnosis was significantly later for traditionally at-risk patients.