The emerging phenotype of late-onset Pompe disease: A systematic literature review.

BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype. PURPOSE: To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006. METHODS: All articles were included in the review that provided data on the charactertistics of LOPD identified via the PubMed database published since the approval of ERT in 2006. All signs and symptoms of the disease that were reported in the literature were identified and included in the review. RESULTS: We provide a comprehensive review of the evolving phenotype of LOPD. Our findings support and extend the knowledge of the multisystemic nature of the disease. CONCLUSIONS: With the advent of ERT and the concurrent increase in the scientific study of LOPD, the condition once primarily conceptualized as a limb-girdle muscle disease with prominent respiratory involvement is increasingly recognized to be a condition that results in signs and symptoms across body systems and structures.

Rifampin use and safety in hospitalized infants.

OBJECTIVE: This study aims to examine the use and safety of rifampin in the hospitalized infants. STUDY DESIGN: Observational study of clinical and laboratory adverse events among infants exposed to rifampin from 348 neonatal intensive care units managed by the Pediatrix Medical Group between 1997 and 2012. RESULT: Overall, 2,500 infants received 4,279 courses of rifampin; mean gestational age was 27 weeks (5th, 95th percentile; 23, 36) and mean birth weight was 1,125 g (515; 2,830). Thrombocytopenia (121/1,000 infant days) and conjugated hyperbilirubinemia (25/1,000 infant days) were the most common laboratory adverse events. The most common clinical adverse events were medical necrotizing enterocolitis (64/2,500 infants, 3%) and seizure (60/2,500 infants, 2%). CONCLUSION: The overall incidence of adverse events among infants receiving rifampin appears low; however, additional studies to further evaluate safety and dosing of rifampin in this population are needed.

An evaluation of gout visits in the United States for the years 2007 to 2011.

BACKGROUND: This study analyzed visits for and factors associated with gout and gout medication treatment trends for the years 2007-2011 in the United States given the introduction of febuxostat, the first new treatment option for gout in over 40 years, which was introduced to the market in 2009. METHODS: This study was a retrospective, cross-sectional, observational study of patients age 20 and older seen by providers who participated in the National Ambulatory Medical Care Survey (NAMCS), the National Hospital Ambulatory Medical Care Survey Outpatient Department (NHAMCS-OPD) or Emergency Department (NHAMCS-ED) in the United States. The outcome of interest was visits for gout diagnosis and visits where a gout medication was prescribed. RESULTS: Approximately 1.2% of visits had a diagnosis of gout. There was a significant increase in the percentage of visits with a diagnosis of gout in years 2009-2011 compared to 2007-2008, which remained after adjusting for covariates of interest. Groups more likely to have a visit with gout included those ≥65 and 45-64 (both as compared to those 20-44), the African-American and 'Other' race groups (as compared to Caucasians) and those on a diuretic. Groups less likely to have a visit with gout included females, Hispanic/Latinos, those with insurance type of 'Other' and Medicaid (both as compared to private insurance) and visits to a hospital emergency setting (as compared to physician's office visits). CONCLUSION: Although there was a significant increase in visits where gout is diagnosed across study years, the overall percentage of visits with a gout diagnosis is low in the US population. Treatment trends over the study years has remained consistent, with the introduction of febuxostat appearing to have little impact for the study years through 2011.