Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.

Morquio A Syndrome (mucopolysaccharidosis IVA [MPS IVA]) is an inherited, autosomal recessive lysosomal storage disorder that occurs in ~1 in 200,000 to 300,000 live births.(1) (Online access http://www.elseviercme.com/559) Individuals with Morquio A Syndrome have mutations in the gene that encodes N-acetylgalactosamine-6-sulfate sulfatase (GALNS), an enzyme responsible for the metabolism of the glycosaminoglycans (GAGs) keratin sulfate and chondroitin-6-sulfate.(2-4) Reduced activity or lack of GALNS leads to cellular and tissue accumulation of these GAGs to result in progressive, multisystem dysfunction and impaired functional capacity.(5) Individuals with Morquio A Syndrome suffer from a broad spectrum of impairment, including a variety of widespread skeletal abnormalities, respiratory compromise, valvular heart disease, visual and auditory impairments, and dental abnormalities.(6-8) Cognition is not typically affected.(9) Morquio A Syndrome exhibits extensive allelic heterogeneity, which results in extensive clinical heterogeneity.(2-4) This educational intervention on the management of patients with Morquio A Syndrome provides updated information and guidelines concerning the early and accurate diagnosis as well as an earlier intervention to improve patient outcomes. The activity is based on a live satellite symposium conducted during the 2015 official ACMG Annual Clinical Genetics Meeting program. Recent advances in the science of enzyme replacement therapies have presented opportunities for pharmacological interventions that improve quality of life. Clinicians will be updated on the clinical trial data and practical solutions for applying newer therapeutics to daily practice. Strategies to manage cardiopulmonary comorbidities and recommendations for the ideal clinical care model will wrap up this informative and up-to-date review of Morquio A Syndrome. This CME activity is also available through the Website of Molecular Genetics and Metabolism. Click on the CME button in the navigation bar for full access. Or access: http://www.elseviercme.com/559.

A pilot study of heated and humidified low flow oxygen therapy: An assessment in infants with mild and moderate bronchiolitis (HHOT AIR study).

BACKGROUND: Heated and humidified high flow nasal cannula oxygen therapy has been used in children with severe bronchiolitis. No data exists in children with mild to moderate bronchiolitis requiring lower flows of heated and humidified oxygen therapy. METHODS: We conducted a prospective, randomized pilot study of standard dry oxygen (control) versus heated and humidified low flow nasal cannula (HHLFNC), <4 liters per minute (LPM) oxygen, (treatment) in healthy children ≤24 months old with bronchiolitis. Clinical assessments were made using Respiratory Distress Assessment Instrument (RDAI), respiratory rate (RR), and oxygen saturation. RESULTS: Thirty-two children were enrolled (16 participants in each group). There was no significant difference in mean RDAI over time between groups. There was a significant difference in mean RDAI over time within control group, at hour 12, and treatment group, at hour 1, compared to baseline. RDAI in the treatment group was overall lower over time compared to control group. There was no significant difference in mean RR over time between or within groups, between mean length of stay and duration of oxygen requirement. Subgroup analyses showed lower RDAI in subjects that had RSV infection, male gender, and non-black race. CONCLUSIONS: The use of HHLFNC oxygen therapy may provide more comfort and may result in more rapid improvements in RDAI compared to standard dry oxygen therapy over time. HHFLNC is safe and well tolerated compared to standard dry oxygen. Larger studies are needed to assess the clinical efficacy of HHLFNC oxygen therapy.