BACKGROUND Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function h...

Gaucher disease, the most common lysosomal storage disease, can be treated with enzyme replacement therapy (ERT), in which defective acid-beta-glucosidase (GlcCerase) is supplemented by a recombinant, active enzyme. The X-ray structures of recombinant GlcCerase produced in Chinese hamster ovary cells (imiglucerase, Cerezyme) and in transgenic carrot cells (prGCD) have been previously solved. We...

BACKGROUND baker's asthma is a well-known occupational lung disease which usually develops in adults. We report the case of a two years old boy who suffered from asthma, urticaria and atopic dermatitis for twelve months, whose symptoms were associated to visits to his grandfather's bakery. METHODS AND RESULTS skin prick tests (SPT) were made to dust mites, moulds, flours, alfa-amylase and egg...

Submit Manuscript | http://medcraveonline.com Abbreviations: HPMC: Hydroxypropyl Methylcellulose; MC: Methylcellulose; PLGA: Poly (Lactide-co-Glycolide); CAP: Cellulose Acetate Phthalate; LCST: Low Critical Solution Temperature; UCST: Upper Critical Solution Temperature; PPO: Polypropylene Oxide; PEO: Polyethylene Oxide; MTA: Methozolamide; PNIPAAm: Poly (N-Isopropylacrylamide); GC: Guluronic A...

OBJECTIVE Although dornase alfa is a widely used, aerosolized, mucolytic agent in patients with cystic fibrosis (CF), its efficacy in relation to the timing of physiotherapy has not been tested. We sought to determine whether dornase alfa is more efficacious when it is administered 30 minutes before versus 30 minutes after physiotherapy/positive expiratory pressure (PEP) therapy in clinically s...

New catalytic materials, based on palladium immobilized in ionic liquid supported on alginate, were elaborated. Alginate was associated with gelatin for the immobilization of ionic liquids (ILs) and the binding of palladium. These catalytic materials were designed in the form of highly porous monoliths (HPMs), in order to be used in a column reactor. The catalytic materials were tested for the ...