Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy.
ABSTRACT Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutations in the gene that encodes for alpha-glucosidase. Presentation in infancy is associated with respiratory failure, cardiomyopathy, and severe muscle weakness. Juvenile- or adult-onset cases typically present with proximal muscle weakness and are associated with respiratory insufficiency or exertional dyspnea. Treatment, until recently, was focused on supportive measures, and infants diagnosed with Pompe disease usually died within the first year of life. The recent development of recombinant alpha-glucosidase has dramatically improved the life expectancy and quality of life of infantile-onset disease with improvements in respiratory and motor function observed in juvenile- or adult-onset cases. This review focuses on the presentation, pathogenesis, diagnosis, and treatment recommendations for Pompe disease in this new era of enzyme replacement therapy.
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ABSTRACT: Pompe disease is an inherited metabolic disorder caused by α-glycosidase deficiency. The adult onset form is mainly characterized by progressive proximal muscle weakness and respiratory dysfunction. The aim of the present study is to evaluate body composition in adult patients before and after enzyme replacement therapy (ERT). Body composition was examined at baseline by means of dual x-ray absorptiometry (DXA) in nine adult patients and after different time periods in six of them who received ERT. Total BMD (bone mineral density) was initially mildly decreased in two patients, while femoral neck BMD was decreased in five patients. On the other hand fat mass was increased in the majority of patients, while body mass index (BMI) was high in four. ERT administration did not seem to induce obvious BMD changes in any patient. Conclusively, the greater femoral neck BMD involvement may be attributed to the lower mechanical load applied by the selectively weakened muscles, whereas the increased fat mass may be the result of metabolic and nutritional derangement.Molecular Genetics and Metabolism 09/2010; 102(1-1):41-43. DOI:10.1016/j.ymgme.2010.09.002 · 2.83 Impact Factor
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ABSTRACT: The manufacture of six sigma quality high density interconnects by use of tin-lead solder flip chip bumps has prompted the application of computational analysis tools to assist in establishing the significance of variations of the bumps. Analytical model results and finite element predictions of solder joint geometry were compared to measured data. The solder geometric data and independently established component and substrate warpage were combined to calculate interconnect manufacturabilityThermal and Thermomechanical Phenomena in Electronic Systems, 1998. ITHERM '98. The Sixth Intersociety Conference on; 06/1998
Conference Paper: An approximate UTD coefficient for material plate junctions[Show abstract] [Hide abstract]
ABSTRACT: An approximate UTD coefficient has been extended for the junction between two material plates. The present development has been carried out for plate angles greater than 60° on the source side. However, the method can be extended to angles less than 60° in a similar fashion. The source should not be located too close to the surface to avoid surface waves. Reasonable comparisons between this approximate solution and moment method solutions are obtainedAntennas and Propagation Society International Symposium, 1998. IEEE; 07/1998