Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by deficient α-galactosidase A activity that leads to an accumulation of globotriasylceramide (Gb3) in affected tissues, including the heart. Cardiovascular involvement usually manifests as left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias, which limit quality of life and represent the most common causes of death. Following the introduction of enzyme replacement therapy, early diagnosis and treatment have become essential to slow disease progression and prevent major cardiac complications. Recent advances in the understanding of FD pathophysiology suggest that in addition to Gb3 accumulation, other mechanisms contribute to the development of Fabry cardiomyopathy. Progress in imaging techniques have improved diagnosis and staging of FD-related cardiac disease, suggesting a central role for myocardial inflammation and setting the stage for further research. In addition, with the recent approval of oral chaperone therapy and new treatment developments, the FD-specific treatment landscape is rapidly evolving.     

Neisseria gonorrhoeae with high-level resistance to azithromycin: case report of the first isolate identified in the United States

We report on the first Neisseria gonorrhoeae isolate in the United States identified with high-level resistance to azithromycin. This report discusses the epidemiologic case investigation, the molecular studies of resistance-associated mutations and N. gonorrhoeae multiantigen sequence typing, and challenges posed by emerging gonococcal antimicrobial resistance.     

Sexually Transmitted Diseases Among Pregnant Women: 5 States,United States, 2009–2011

Introduction Screening for specific sexually transmitted diseases (STDs) during pregnancy has been a longstanding public health recommendation. Prior studies have described associations between these infections and socioeconomic factors such as race/ethnicity and education. Objectives We evaluated the prevalence of STDs and the correlation socioeconomic factors have with the presence of these infections among pregnant women in the United States. Methods We conducted an analysis using self-reported data from 12,948 recently pregnant women from the Pregnancy Risk Assessment Monitoring System (PRAMS) in 5 states during 2009–2011. Responses to questions about curable STDs (chlamydia, gonorrhea, syphilis, trichomoniasis) diagnosed during pregnancy were utilized to calculate weighted STD prevalence estimates and 95% confidence intervals (CI). A logistic regression was also conducted to identify maternal socioeconomic characteristics significantly associated with STDs; results are displayed as adjusted prevalence ratios (aPR). The PRAMS protocol was approved at PRAMS participating sites and by CDC’s Institutional Review Board. Results Overall, 3.3% (CI 2.9–3.7) reported?≥?1 curable STD during her most recent pregnancy. The adjusted STD prevalence was higher among women with younger age (aPR, 2.4; CI 1.8–3.4), non-Hispanic black race/ethnicity (aPR, 3.3; CI 2.4–4.1), unmarried status (aPR, 2.1; CI 1.4–3.0), no college education (aPR, 1.4; CI 1.0–1.9), annual income <?$25,000 (aPR, 2.0; CI 1.3–3.2), and no pre-pregnancy health insurance (aPR, 1.4; CI 1.1–1.8). Conclusions for Practice This is the largest study of prevalence of self-reported curable STDs among U.S. pregnant women. Differences in STD prevalence highlight the association between certain socioeconomic factors and the presence of STDs.     

Bisphenol A Exposure Impairs Epididymal Development during the Peripubertal Period of Rats: Inflammatory Profile and Tissue Changes

Bisphenol A (BPA) is a synthetic non‐steroidal oestrogen used in the production of plastics. BPA can cause alterations in the endocrine system of human beings and animals at varied stages of development. During puberty, altered morphological, sexual behaviour and completion of the epididymal development occur. Therefore, this study aimed to evaluate the effects of BPA on epididymal development during the peripubertal period of rats. Male Wistar rats were treated with BPA via gavage at doses of 20 μg/kg or 200 μg/kg per day [post‐natal day (PND] 36–66). The control group received the vehicles under the same conditions. Feed and water were provided ad libitum. On PND 67, the epididymis was removed, weighed, divided into caput/corpus and cauda sections. It was then used for sperm count determination; histopathological and stereological evaluation; inflammatory cell enzymatic profiling (myeloperoxidase activity – MPO; N‐acetylglucosaminidase – NAG); immunohistochemistry for IL‐6; and evaluation of superoxide anion levels and malondialdehyde (MDA). Exposure to BPA at 200 μg/kg caused a significant increase of MPO activity and immunoreactivity to IL‐6 (interleukin‐6) as well as remodelling of tissue components in the caput/corpus and cauda regions of the epididymis. Under these experimental conditions, it is concluded that BPA alters post‐natal epididymal development.