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Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and(More)
Lower body positive pressure allows unloading of the lower extremities during exercise in a pressurized treadmill chamber. This study assessed the preliminary feasibility of lower body positive pressure exercise as a rehabilitation technique by examining its effects on gait mechanics and pain, postoperatively. Fifteen patients who had arthroscopic(More)
BACKGROUND Intravenous pamidronate has been used off-label in the treatment of severe osteogenesis imperfecta (OI) for almost 20 years. Previous studies have found correlations between function and bone density in patients with OI, but have not studied the functional outcomes of these patients after bisphosphonate therapy with a validated outcome measure.(More)
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, MIM 253200 ) is an autosomal recessive lysosomal storage disease (LSD) caused by decreased activity of arylsulfatase B (N-acetylgalactosamine 4-sulfatase) enzyme resulting in dermatan sulfate accumulation; mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome A, MIM 253000 ) by decreased(More)
STUDY DESIGN A retrospective comparison of pediatric patients weighing less than 30 kg who underwent thoracoscopic anterior spinal release and fusion for deformity correction. This group was compared to two control groups: patients weighing over 30 kg (thoracoscopic) and patients under 30 kg (open). OBJECTIVE To determine the efficacy and safety of(More)
Musculoskeletal disease is a significant burden for children with Mucopolysaccharide (MPS) disorders. The Pediatric Outcomes Data Collection Instrument (PODCI) is a validated, functional measure of musculoskeletal health in children with disabilities. The goal of this study is to describe the musculoskeletal manifestations of children with MPS II (Hunter(More)
OBJECTIVE Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux-Lamy syndrome) are autosomal recessive lysosomal storage disorders. Skeletal abnormalities are common initial presenting symptoms and, when recognized early, may facilitate timely diagnosis and intervention, leading to improved patient outcomes. Patients with(More)
BACKGROUND In developmental dysplasia, Pavlik harness treatment of hips with a positive Ortolani sign fails in up to 40% of such patients; however, no study has described factors for failure associated with ultrasonographic parameters. The goal of this study was to describe unique ultrasonographic markers in hips with a positive Ortolani sign that are(More)
BACKGROUND Acute compartment syndrome has been widely reported in legs positioned in the lithotomy position for prolonged general surgical, urologic, and gynecologic procedures. The orthopaedic literature also contains reports of this complication in legs positioned on a fracture table in the hemilithotomy position. The purpose of this study was to identify(More)
BACKGROUND Musculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature, there have been few reported studies to date to guide the management of the orthopedic problems(More)