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

Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients

Background Progressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with SMA type II and SMA type III once they have lost the ability to walk. The aim of this study was to examine and document the development and natural course of scoliosis in patients with spinal muscular atrophy type II and IIIa. Methods For the purposes of a descriptive clinical study, we observed 126 patients, 99 with SMA II and 27 with SMA IIIa and the data of scoliosis, pelvic obliquity and relative age-dependent inspiratory vital capacity were evaluated. Results Scoliosis and pelvic obliquity were regularly observed already in children under 4 years old in the group with SMA II. The severity and progression of both conditions were much more pronounced in the SMA II group than in the IIIa group. There was already a distinct reduction in relative vital capacity in the group of 4- to 6-year-olds with SMA II. Conclusions The differences between the two SMA types II and IIIa described in this study should be taken into consideration when developing new treatments and in management of scoliosis in the childhood years of these patients

Does Pelvic Orientation Influence Wear Measurement of the Acetabular Cup in Total Hip Arthroplasty—An Experimental Study

Roentgen stereophotogrammetric analysis (RSA) is the gold standard to detect in vivo material wear of the bearing couples in hip arthroplasty. Some surgical planning tools offer the opportunity to detect wear by using standard a.p. radiographs (2Dwear), whilst RSA (3Dwear) needs a special radiological setup. The aims of this study are to prove the interchangeable applicability of a 2Dwear approach next to RSA and to assess the influence of different pelvic positions on measurement outcomes. An implant-bone model was used to mimic three different wear scenarios in seven pelvic-femur alignment positions. RSA and a.p. radiographs of the reference and a follow-up (simulated wear) pose were acquired. Accuracy and precision were worse for the 2Dwear approach (0.206 mm; 0.159 mm) in comparison to the 3Dwear approach (0.043 mm; 0.017 mm). Changing the pelvic position significantly influenced the 2Dwear results (4 of 7, p < 0.05), whilst 3Dwear results showed almost no change. The 3Dwear is superior to the 2Dwear approach, as it is less susceptible to changes in pelvic position. However, the results suggest that a 2Dwear approach may be an alternative method if the wear present is in the range of 100–500 µm and a.p. radiographs are available with the pelvis projected in a neutral position

Management of Severe Equinovalgus in Patients With Cerebral Palsy by Naviculectomy in Combination With Midfoot Arthrodesis

Background: Equinovalgus deformity is the second most common deformity in cerebral palsy and may be flexible or rigid. Several operative methods from joint sparing to arthrodesis have been described with varying success rates. The aim of this study was to investigate the effectiveness of naviculectomy in combination with midfoot arthrodesis (talo-cuneiform and calcaneocuboid arthrodesis) in the correction of a rigid equinovalgus foot deformity in cerebral palsy. Methods: Forty-eight rigid equinovalgus feet were operated upon in 30 patients from 2008 to 2013. Of these, 44 feet in 26 patients with cerebral palsy (Gross Motor Function Classification System III, IV, or V) with follow-up of more than 2 years were included in the study. The mean age at surgery was 18.1 years. The outcomes were measured objectively using radiographic angles and subjectively using 5 questions to be answered by the caregiver. The feet were then graded into excellent, good, fair, and poor. The mean follow-up was 5.0 ± 1.7 years. Results: Excellent to good results were obtained in 81% of the feet. Both objective and subjective outcomes improved significantly postoperatively (P < .001). Three feet in 2 patients were graded as poor and underwent a revision operation for pain and recurrence. Conclusions: Naviculectomy in combination with midfoot arthrodesis enabled a good 3-dimensional correction of the forefoot. However, the procedure did not necessarily correct the fixed subtalar joint deformity. Several additional bony and soft-tissue procedures were necessary to achieve a complete correction in these difficult feet. Level of Evidence: Level IV, retrospective case series

Multi-Parametric Analysis of Below-Knee Compression Garments on Delayed-Onset Muscle Soreness

To investigate below-knee compression garments during exercise and a post-exercise period of 6 h on clinical, functional, and morphological outcomes in delayed-onset muscle soreness (DOMS). Eighteen volunteers (age: 24.1 ± 3.6, BMI 22.7 ± 2.7 kg/m2) were enrolled. Measures were acquired at baseline, 6 h, and 48 h after eccentric and plyometric exercise, with wearing a compression garment (21–22 mmHg) on a calf during and for the first 6 h after exercise. 3T MRI was performed for quantification of intramuscular edema (T2 signal intensity (SI), T2 time, and manual volume segmentation); jump height, calf circumference, ankle dorsiflexion (DF), creatine kinase (CK), and muscle soreness were assessed. DOMS was confirmed in all participants after 48 h, with an increase in soreness (p < 0.001) and CK (p = 0.001), decrease in jump height (p < 0.01), and the presence of intramuscular edema (p < 0.01) in both the compressed and non-compressed limbs. No differences between the compressed and non-compressed limbs were observed for muscle soreness and jump height. MRI T2 SI, T2 time, soreness, and manual segmentation revealed no effect of the compression treatment. The assessment of calf circumference and DF showed no changes in either the compression or non-compression limb (p = 1.0). Wearing compression garments during combined eccentric and plyometric exercise and for 6 h post-exercise has no effect on clinical signs of DOMS, jump performance, or the development of intramuscular edema

Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients

Background Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms. A mild, classic and congenital form can be distinguished. Often the quality of life is reduced by orthopaedic problems, such as muscle weakness, contractures, foot or spinal deformities, which limit patients’ mobility. The aim of our study was to gather information about the orthopaedic impairments in patients with DM1 in order to improve the medical care of patients, affected by this rare disease. Methods A retrospective clinical study was carried out including 21 patients (11 male and 10 female), all diagnosed with DM1 by genetic testing. All patients were seen during our special consultations for neuromuscular diseases, during which patients were interviewed and examined. We also reviewed surgery reports of our hospitalized patients. Results We observed several orthopaedic impairments: spinal deformities (scoliosis, hyperkyphosis, rigid spine), contractures (of the upper extremities and the lower extremities), foot deformities (equinus deformity, club foot, pes cavus, pes planovalgus, pes cavovarus, claw toes) and fractures. Five patients were affected by pulmonary diseases (obstructive airway diseases, restrictive lung dysfunctions). Twelve patients were affected by cardiac disorders (congenital heart defects, valvular heart defects, conduction disturbances, pulmonary hypertension, cardiomyopathy). Our patients received conservative therapy (physiotherapy, logopaedic therapy, ergotherapy) and we prescribed orthopaedic technical devices (orthopaedic custom-made shoes, insoles, lower and upper leg orthoses, wheelchair, Rehab Buggy). We performed surgery for spinal and foot deformities: the scoliosis of one patient was stabilized and seven patients underwent surgery for correction of foot deformities. Conclusions An orthopaedic involvement in DM1 patients should not be underestimated. The most common orthopaedic impairments are contractures, foot deformities and spinal deformities. Contractures are typically located distally in the lower extremities, but can also occur in the hip or shoulder joints. Foot deformities could be treated with orthopaedic custom-made shoes, orthoses or insoles. Surgery is indicated for severe foot deformities or contractures

Antibacterial Effect of a 4x Cu-TiO2 Coating Simulating Acute Periprosthetic Infection—An Animal Model

The purpose of our study was to investigate the antibacterial effect of a spacer (Ti6Al4V) coated with 4x Cu-TiO2 in an animal model simulating an acute periprosthetic infection by Staphylococcus aureus. Ti6Al4 bolts contaminated with Staphylococcus aureus were implanted into the femoral condyle of rabbits (n = 36) divided into 3 groups. After one week in group 1 (control) the bolts were removed without any replacement. In group2 Ti6Al4V bolts with a 4x Cu-TiO2 coating and in group 3 beads of a gentamicin-PMMA chain were imbedded into the borehole. Microbiological investigation was performed at the primary surgery, at the revision surgery and after scarification of the rabbits 3 weeks after the first surgery. Blood tests were conducted weekly. The initial overall infection rate was 88.9%. In group 2 and 3 a significant decrease of the infection rate was shown in contrast to the control group. The C-reactive protein (CRP) levels declined one week after the first surgery except in the control group where the CRP level even increased. This is the first in vivo study that demonstrated the antibacterial effects of a fourfold Cu-TiO2 coating. For the future, the coating investigated could be a promising option in the treatment of implant-associated infections