Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients

Introduction. Pompe disease (PD), a lysosomal storage disease as well as a neuromuscular disorder, is a rare disease marked by progressive muscle weakness. Enzyme replacement therapy (ERT) in recent years allowed longer survival but brought new problems to the treatment of PD with increasing affection of the musculoskeletal system, particularly with a significantly higher prevalence of scoliosis. The present paper deals with the orthopedic problems in patients with PD and is the first to describe surgical treatment of scoliosis in PD patients. Patients and Methods. The orthopedic problems and treatment of eight patients with PD from orthopedic consultation for neuromuscular disorders are retrospectively presented. We analyzed the problems of scoliosis, hip dysplasia, feet deformities, and contractures and presented the orthopedic treatment options. Results. Six of our eight PD patients had scoliosis and two young patients were treated by operative spine stabilization with benefits for posture and sitting ability. Hip joint surgery, operative contracture release, and feet deformity correction were performed with benefits for independent activity. Conclusion. Orthopedic management gains importance due to extended survival and musculoskeletal involvement under ERT. Surgical treatment is indicated in distinct cases. Further investigation is required to evidence the effect of surgical spine stabilization in PD

The Investigation of Structure Heterogeneous Joint Welds in Pipelines

Welding joints of dissimilar steels don’t withstand design life. One of the important causes of premature destructions can be the acceleration of steel structural degradation due to cyclic mechanical and thermal gradients. Two zones of tube from steel 12H18N9T, exhibiting the structural instability at early stages of the decomposition of a supersaturated solid austenite solution, were subjected to investigation. Methods of x-ray spectral and structure analysis, micro hardnessmetry were applied for the research. Made the following conclusions, inside and outside tube wall surfaces of hazardous zones in welding joint have different technological and resource characteristics. The microhardness very sensitive to changes of metal structure and can be regarded as integral characteristic of strength and ductility. The welding processes are responsible for the further fibering of tube wall structure, they impact to the characteristics of hot-resistance and long-term strength due to development of ring cracks in the welding joint of pipeline. The monitoring of microhardness and structural phase conversions can be used for control by changes of mechanical properties in result of post welding and reductive heat treatment of welding joints