Left ventricular dysfunction in Duchenne muscular dystrophy.

BACKGROUND: Duchenne muscular dystrophy is associated with progressive cardiorespiratory failure, including left ventricular dysfunction. METHODS AND RESULTS: Males with probable or definite diagnosis of Duchenne muscular dystrophy, diagnosed between 1 January, 1982 and 31 December, 2011, were identified from the Muscular Dystrophy Surveillance Tracking and Research Network database. Two non-mutually exclusive groups were created: patients with ≥2 echocardiograms and non-invasive positive pressure ventilation-compliant patients with ≥1 recorded ejection fraction. Quantitative left ventricular dysfunction was defined as an ejection fraction <55%. Qualitative dysfunction was defined as mild, moderate, or severe. Progression of quantitative left ventricular dysfunction was modelled as a continuous time-varying outcome. Change in qualitative left ventricle function was assessed by the percentage of patients within each category at each age. Forty-one percent (n = 403) had ≥2 ejection fractions containing 998 qualitative assessments with a mean age at first echo of 10.8 ± 4.6 years, with an average first ejection fraction of 63.1 ± 12.6%. Mean age at first echo with an ejection fraction <55 was 15.2 ± 3.9 years. Thirty-five percent (140/403) were non-invasive positive pressure ventilation-compliant and had ejection fraction information. The estimated rate of decline in ejection fraction from first ejection fraction was 1.6% per year and initiation of non-invasive positive pressure ventilation did not change this rate. CONCLUSIONS: In our cohort, we observed that left ventricle function in patients with Duchenne muscular dystrophy declined over time, independent of non-invasive positive pressure ventilation use. Future studies are needed to examine the impact of respiratory support on cardiac function.

Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.

BACKGROUND: For 10 years, the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) conducted surveillance for Duchenne and Becker muscular dystrophy (DBMD). We piloted expanding surveillance to other MDs that vary in severity, onset, and sources of care. METHODS: Our retrospective surveillance included individuals diagnosed with one of nine eligible MDs before or during the study period (January 2007-December 2011), one or more health encounters, and residence in one of four U.S. sites (Arizona, Colorado, Iowa, or western New York) at any time within the study period. We developed case definitions, surveillance protocols, and software applications for medical record abstraction, clinical review, and data pooling. Potential cases were identified by International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes 359.0, 359.1, and 359.21 and International Classification of Diseases, Tenth Revision (ICD-10) codes G71.0 and G71.1. Descriptive statistics were compared by MD type. Percentage of MD cases identified by each ICD-9-CM code was calculated. RESULTS: Of 2,862 cases, 32.9% were myotonic, dystrophy 25.8% DBMD, 9.7% facioscapulohumeral MD, and 9.1% limb-girdle MD. Most cases were male (63.6%), non-Hispanic (59.8%), and White (80.2%). About, half of cases were genetically diagnosed in self (39.1%) or family (6.2%). About, half had a family history of MD (48.9%). The hereditary progressive MD code (359.1) was the most common code for identifying eligible cases. The myotonic code (359.21) identified 83.4% of eligible myotonic dystrophy cases (786/943). CONCLUSIONS: MD STARnet is the only multisite, population-based active surveillance system available for MD in the United States. Continuing our expanded surveillance will contribute important epidemiologic and health outcome information about several MDs.

Restructuring Data Reported from Jurisdictional Early Hearing Detection and Intervention (EHDI) Programs: A Pilot Study.

OBJECTIVE: To assess the feasibility, benefits, and challenges surrounding individual-level versus aggregate data reporting by jurisdictional EHDI programs to the Centers for Disease Control and Prevention (CDC). METHOD: Using data reported to CDC by three jurisdictions in 2011, descriptive statistics were used to assess the feasibility of collecting and reporting individual-level data. Comparisons were made on what can be learned from individual-level data as opposed to CDC's aggregate survey data. RESULTS: Individual-level data provided a detailed overview of the population served, services received, and variations across jurisdictions in data collection, reporting, and quality monitoring practices. Several challenges and areas needing improvement were identified: variations in (1) data standardization; (2) data collection and reporting procedures; and (3) protocols for recommended follow-up services. CONCLUSIONS: Using individual-level data, CDC was able to perform in-depth statistical analyses and learn more about each jurisdiction's population, their EHDI process, and challenges to data collection, tracking, and surveillance efforts. As a result, CDC was able to provide more targeted technical assistance. All of the above would not be feasible using aggregate survey data. The pilot study demonstrated that individual-level data reporting to CDC is feasible and offers many opportunities for both CDC and jurisdictional EHDI programs.

Knowledge, Awareness and Medical Practice of Asian Americans/Pacific Islanders on Chronic Hepatitis B Infection: Review of Current Psychosocial Evidence.

The purpose of this review is to conduct a concise review of the literature to evaluate the knowledge, awareness, and medical practice of Asian Americans/Pacific Islanders (API) supporting the relationship of chronic hepatitis B infection. Liver cancer is the fifth most common cause of cancer death in men and the ninth most common cause of death in women in the United States. On average, Asian Americans are three times more likely to die from liver cancer than other racial/ethnic groups, with Chinese Americans at six times, Koreans eight times and Vietnamese 13 times higher than non-Hispanic Whites. In the United States, about 80% of liver cancer is etiologically associated with hepatitis B virus (HBV) infection. Asian Americans and Pacific Islanders (API) account for over half of the 1.3 million chronic hepatitis B cases and for over half of the deaths resulting from chronic hepatitis B infection. Relevant studies were identified in PubMed (Medline) using the following search structure: (Hepatitis B or synonyms) AND (liver cancer or synonyms) AND (Asian Americans or synonyms). Further studies were identified by citations in retrieved papers and by consultation with experts. Twenty publications were included in this review. Compared to other racial/ethnic groups, Asians, especially those born in China or Southeast Asia, have significantly poorer knowledge regarding hepatitis B and liver cancer. Knowledge, awareness and medical practice among Asian Americans regarding HBV infection were dependent upon age, gender, race/ethnicity, immigrant status and length of residency. Despite increased risk for chronic hepatitis B and liver cancer, many Asian Americans are uninformed, untested, and unprotected against the disease.