1,721,070 research outputs found
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA
No full textMucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase, which results in skeletal and connective tissue abnormalities, as well as various non-skeletal manifestations. Although enzyme replacement therapy (ERT) is recommended as the first-line treatment, the outcomes of ERT on bone pathology remain controversial. We report clinical characteristics and outcomes of ERT in 9 patients with MPS IVA (6 males and 3 females) from 7 unrelated families. During ERT, results from pulmonary function tests, echocardiography, the 6-min walk test, and the Functional Independence Measure were monitored biannually. Anthropometric data were compared with previously reported growth charts of subjects with MPS IVA. Among the 9 patients (5 severe, and 4 slowly progressive form), 7 patients (5 severe, 2 slowly progressive) commenced ERT at a median age of 3.8 years (range: 0.8–13.7 years) and were treated for a median duration of 1.9 years (range: 1.2–5.7 years). Mean height standard deviation scores using MPS IVA growth charts were + 0.4 (+0.0 in severe phenotypes) at initiation and + 0.7 (+0.2 in severe phenotypes) at the last follow-up. Four patients with severe phenotypes underwent surgery for cervical myelopathy and 1 patient with a slowly progressive phenotype underwent a bilateral pelvic osteotomy for hip pain during ERT. The parameters of pulmonary and heart function, endurance, and Functional Independence Measure scores were maintained or increased after ERT. Overall, ERT was well tolerated without deterioration of cardiorespiratory and functional outcomes during treatment, although skeletal outcomes, including growth, were limited
Radiographic Factors for Progression of Thoracolumbar Kyphosis in Achondroplasia Patients after Walking Age: A Generalized Estimating Equation Analysis
No full textBACKGROUND: This study aimed to analyse the trends in changes of radiologic parameters according to age to predict factors affecting the progression of thoracolumbar kyphosis (TLK). METHODS: Records of patients with achondroplasia were retrospectively reviewed from July 2001 to December 2020. We measured imaging parameters (T10–L2 angle, sagittal Cobb angle, width, height, and number of wedge vertebrae, and apical vertebral translation [AVT]) of 81 patients with radiographically confirmed TLK. Based on the angle on X-ray taken in 36 months, 49 patients were divided into the progression group (P group, TLK angle ≥ 20°) and resolution group (R group, TLK angle < 20°). The mean values between the groups were compared using Student t-test, and the pattern of changes in each radiologic parameter according to age was analysed using a generalized estimating equation. RESULTS: Some imaging parameters showed significant differences according to age between P group and R group: T10–L2 angle (p < 0.001), sagittal Cobb angle (p < 0.001), AVT (p = 0.025), percentage of wedge vertebral height (WVH) (p = 0.018), and the number of severely deformed wedge vertebral bodies (anterior height less than 30% of posterior) (p = 0.037). Regarding the percentage of wedge vertebral widths (superior and inferior endplates), the difference between the two groups did not significantly increase with age, but regardless of age, it was higher in P group than in R group. CONCLUSIONS: The difference in the TLK angle between P group and R group of the achondroplasia patients gradually increased with age. Among the imaging parameters, AVT and WVH could be factors that ultimately affect the exacerbation of kyphosis as the difference between the groups increased significantly over time
Application of Ganz surgical hip dislocation approach in pediatric hip diseases.
No full textGanz surgical hip dislocation is useful in the management of severe hip diseases, providing an unobstructed view of the femoral head and acetabulum. We present our early experience with this approach in pediatric hip diseases. Twenty-three hips of 21 patients with pediatric hip diseases treated using the Ganz surgical hip dislocation approach were the subjects of this study. The average age at the time of surgery was 15.7 years. There were 15 male and 6 female patients who were followed for an average of 15.1 months (range, 6 to 29 months). Diagnoses included hereditary multiple exostoses in 9 hips, slipped capital femoral epiphysis in 7, Legg-Calvé-Perthes disease in 4, osteoid osteoma in 1, pigmented villonodular synovitis in 1, and neonatal septic hip sequelae in 1. Medical records were reviewed to record diagnoses, principal surgical procedures, operative time, blood loss, postoperative rehabilitation, changes in the range of hip joint motion, and complications. Femoral head-neck osteochondroplasty was performed in 17 patients, proximal femoral realignment osteotomy in 6, open reduction and subcapital osteotomy for slipped capital femoral epiphysis (SCFE) in 2, core decompression and bone grafting in 2, hip distraction arthroplasty in 2, and synovectomy in 2. Operative time averaged 168.6 minutes when only osteochondroplasty and/or synovectomy were performed. Hip flexion range improved from a preoperative mean of 84.7 degrees to a mean of 115.0 degrees at the latest follow-up visit. Early continuous passive motion and ambulation were stressed in rehabilitation. No avascular necrosis of the femoral head was noted up to the time of the latest follow-up visit, except for in one SCFE patient whose surgical intervention was delayed for medical reasons. Ganz surgical hip dislocation provides wide exposure of the femoral head and neck, which enables complete and precise evaluation of the femoral head and neck contour. Hence, the extensive impinging bump can be excised meticulously, and the circulation of the femoral head can be monitored during surgery. The Ganz procedure was useful in severe pediatric hip diseases and allowed for quick rehabilitation with fewer complications.Y
Acetabular remodeling and role of osteotomy after closed reduction of developmental dysplasia of the hip
No full textBackground: The purposes of this study were to evaluate acetabular remodeling after closed reduction of developmental dysplasia of the hip (DDH) and to delineate the role of osteotomy. Methods: Eighty-four hips with DDH treated with closed reduction and followed until the patient was 8 years of age or older were included in this study. The mean age at closed reduction was 14.0 months (range, 3 to 30 months) and that at the latest follow-up visit was 12.7 years (range, 8.0 to 24.7 years). Osteotomy was performed in 26 hips (31%) during the follow-up period, at an average age of 2.8 years (range, 2.0 to 5.8 years). The acetabular index (AI) and center-edge angle (CEA) were measured, and osteonecrosis was graded. The treatment outcome was evaluated as satisfactory (Severin grade I or II) or unsatisfactory (III or IV). We retrospectively analyzed the associations among radiographic parameters, performance of osteotomy, grade of osteonecrosis, and final outcome. Results: A satisfactory outcome was observed in 67 (80%) of the 84 hips. An osteotomy was not performed in 30 of 34 hips with an AI of <32 degrees and a CEA of >14 degrees at the age of 3 years, and 28 (93%) of these 30 hips showed a satisfactory outcome. Of the 33 hips with an AI of >= 32 degrees and a CEA of <= 14 degrees at the age of 3 years, the 20 that had undergone an osteotomy showed a higher proportion of satisfactory outcomes than the 13 hips that had not (p = 0.01). Three of the 4 hips that showed an unsatisfactory outcome following an osteotomy had an AI of >= 34 degrees at 1 year post-osteotomy. Grade-II, III, or IV osteonecrosis, according to the Bucholz-Ogden classification, developed in 10 of the 84 hips, and these 10 hips had a higher proportion of unsatisfactory outcomes than did those that developed no or grade-I osteonecrosis (p = 0.004). Conclusions: Hips with DDH showing poor acetabular remodeling after closed reduction may benefit from osteotomy. The AI and CEA at the age of 3 years can serve as one of the guidelines for osteotomy. Continued surveillance for acetabular remodeling is required even after osteotomy.N
Validity and Reliability of Measuring Femoral Anteversion and Neck-Shaft Angle in Patients with Cerebral Palsy
No full textBackground: Increased femoral anteversion and coxa valga are common in patients with cerebral palsy. The purpose of the present study was to determine the validity and reliability of the methods that are commonly used to measure the proximal femoral geometry in patients with cerebral palsy. Methods: Thirty-six consecutive patients (mean age, eleven years; range, five to twenty years) with cerebral palsy were enrolled in the present study. The validity and the interobserver reliability of the physical examinations performed by three examiners were determined by comparing the results of a trochanteric prominence angle test, hip internal rotation measurements, and hip external rotation measurements (all with the patient in the prone position) with the amount of femoral anteversion on two-dimensional computed tomography. Validity and intraobserver and interobserver reliability were assessed by comparing the neck-shaft angle on the anteroposterior internal rotation radiograph of the hips with that on the multiplanar reformatted computed tomographic image. Results: The trochanteric prominence angle test showed excellent concurrent validity (R = 0.862, p < 0.001) and reliability (intraclass correlation coefficient, 0.809). Hip internal rotation also showed good concurrent validity (R = 0.787, p < 0.001) and excellent reliability (intraclass correlation coefficient, 0.889), whereas hip external rotation appeared to be unsuitable for predicting femoral anteversion. The neck-shaft angle on the anteroposterior internal rotation radiograph of the hips showed excellent concurrent validity (R = 0.892, p < 0.001) and reliability (intraclass correlation coefficient, 0.912). Conclusions: A physical examination for determining femoral anteversion and the neck-shaft angle as measured on the internal rotation radiograph of the hips appear to be clinically relevant methods for evaluating the proximal femoral geometry and version in patients with cerebral palsy. Computed tomographic examination can probably be replaced by physical examination and an anteroposterior internal rotation radiograph of the hips for patients with stable hips who are able to walk.N
Locking plate placement with unicortical screw fixation adjunctive to intramedullary rodding in long bones of patients with osteogenesis imperfecta
No full textBackground: Intramedullary rodding has been the mainstay of long-bone stabilization in osteogenesis imperfecta. However, in some cases, intramedullary rodding cannot provide adequate fixation because of a lack of rotational control and thin diameter of long bones. We have applied adjunctive unicortical locking plate fixation in selected cases of osteogenesis imperfecta to address these biomechanical issues. Methods: Thirty-seven bone segments of twenty-four patients with osteogenesis imperfecta (ten type III, nine type IV, three type I, and two type V), in which unicortical locking plate fixation was applied adjunctive to intramedullary rodding and was later removed after union had been achieved, were the study subjects. The mean patient age at the time of surgery was 15.5 years (range, 6.2 to 39.8 years). Medical records and follow-up radiographs were reviewed to evaluate healing, complications, and the fates of screw holes after plate removal. Results: All fractures or osteotomies healed completely. Locking plates were removed postoperatively at a mean time (and standard deviation) of 1.8 +/- 0.9 years (range, 0.3 to 3.8 years). In seven of the thirty-seven cases, fractures through the screw hole occurred; all of these were treated conservatively. In eighteen of nineteen cases that were followed for more than a year after plate removal without screw hole-related complication, screw holes healed and were no longer visualized by radiography. Conclusions: Unicortical locking plate fixation effectively supplements intramedullary rod fixation in selected cases of osteogenesis imperfecta.N
Slipped capital femoral epiphysis caused by neurogenic heterotopic ossification
No full textSlipped capital femoral epiphysis (SCFE) is rare in nonambulatory patients, as mechanical factors play important roles in the development of the disease. We report a case of SCFE, which occurred in a 12-year-old girl with a nonambulatory status after cerebral infarction. SCFE occurred after she received passive range of motion exercise and extracorporeal shock wave treatment for neurogenic heterotopic ossification around the hip joint. The patient was successfully managed by a stepwise approach, with radiological and clinical improvements.N
Proximal migration of femoral telescopic rod in children with osteogenesis imperfecta
No full textBackground: Intramedullary telescopic rod fixation has been used for stabilization of the long bones in growing children who have osteogenesis imperfecta. Proximal migration of the rod is the most common complication of telescopic rodding in the femur. The purposes of this study were to evaluate incidence and temporal pattern of proximal migration of the femoral rod, and to investigate factors related to it. Methods: A total of 50 patients with osteogenesis imperfecta, who had femur stabilized by telescopic rod with T-piece, were the subjects of this study. In patients having both the femora stabilized, only 1 femur was randomly selected for analysis. Hence, in 50 femora, migration-free survivorship was analyzed using the Kaplan-Meier method, and association with possible risk factors was analyzed by Cox regression analysis using the proportional hazards model. Factors investigated in the analysis include age at the time of surgery, sex, purpose of the index surgery, residual or developing angular deformity of the femur, rod position at the distal physis, persistent cortical gap at fracture/osteotomy site, Sillence classification, and type of telescopic rod. Results: Proximal migration was observed in 7 of 50 femora. Cumulative survival without proximal migration was 0.94 (95% CI, 0.87-1.01) in 1 year, and 0.85 (95% CI, 0.75-0.95) in 6 years. Factors significantly associated with proximal rod migration in Kaplan-Meier survivorship analysis and univariate Cox regression analysis were angular deformity, eccentric rod position at the distal physis, and persistent cortical gap. When these factors were analyzed by multivariate analysis, eccentric rod position at the distal physis was the only significant factor with a hazard ratio of 11.74. Conclusions: The risk of proximal rod migration can be reduced by complete correction of angular deformity and optimal placement of the rod at the distal physis. Our data also suggest that developing angular deformity or persistent osteotomy/fracture gap requires special attention at the possibility of proximal rod migration during follow-up.N
Overgrowth of the lower limb after treatment of developmental dysplasia of the hip: incidence and risk factors in 101 children with a mean follow-up of 15 years
No full textBackground and purpose - There are few studies on overgrowth of the affected limb after treatment of developmental dysplasia of the hip (DDH). We investigated the incidence of overgrowth and its risk factors in DDH patients. Patients and methods - 101 patients were included in this study. Overgrowth was defined by 2 criteria: when the height of the femoral head of the affected side was higher than that of the contralateral side by more than 10 mm, or by more than 15 mm. The potential risk factors of distinct overgrowth were retrospectively examined using multivariable analysis. Results - When overgrowth was defined as femoral head height difference (FHHD) > 10 mm, its incidence was 44%, and only femoral osteotomy was identified as a significant risk factor with a relative risk (RR) of 1.6 (95% confidence interval [CI] 1.0-2.5). When overgrowth was defined as FHHD > 15 mm, its incidence was 23%, and femoral osteotomy was identified as the only significant risk factor with an RR of 2.3 (CI 1.2-4.5). Overgrowth developed more frequently in patients who underwent femoral osteotomy at the age of 2 to 4 years (87%) than in the others (46%) (p = 0.04). Interpretation - Overgrowth of the affected limb is common in DDH patients. Patients who underwent femoral osteotomy, especially at the age of 2 to 4 years, may require careful follow-up because of the substantial risk for overgrowth.Y
Distraction osteogenesis induces endothelial progenitor cell mobilization without inflammatory response in man
No full textIntroduction: Distraction osteogenesis (DO) is a unique postnatal bone formation process, which is characterized by a profuse increase in vascularization. Recently endothelial progenitor cells (EPCs) have been reported to circulate ill Substantial numbers Under physiologic conditions and to contribute to bone regeneration. The authors investigated EPC mobilization in patients undergoing limb lengthening. Materials and methods: Thirteen of 24 consecutive patients Who Underwent limb-lengthening procedures oil weight-bearing long bones (femur and tibia) were included in this Study. Peripheral blood samples were taken at four different time points from each patient, that is, before operation (pre-Op), 2 or 3 days after osteotomy (early-PO), before the start of distraction (pre-Dist), and at 7 to 14 clays after the start of distraction (during-Dist). Numbers of leukocytes and levels of plasma C-reactive protein (CRP) were determined. After isolating mononuclear cells (MNCs) by centrifugation, we performed FACS analysis on freshly isolated MNCs using antibodies to the cell Surface markets: CD34, CD133, vascular endothelial growth factor receptor 2 (VEGFR2), and alkaline phosphatase. MNCs were also Cultured in endothelial cell growth medium and numbers of EPC colony-forming units were Counted. Plasma levels of EPC-mobilizing cytokines, Such as, VEGF, SDF-1, and MCP-1, were determined by ELISA. Results: Numbers of leukocytes and CRP plasma levels increased significantly during the early-PO period (p<0.01) but were maintained within normal range in the during-Dist period. FACS analysis of freshly isolated MNCs showed that EPC-enriched cell fractions increased after distraction, but that alkaline phosphatase-positive cell numbers were unchanged. Numbers of EPC colony-forming units significantly increased in the during-Dist period (p<0.01). Plasma levels of VEGF and SDF-1 significantly increased in the during-Dist period (p<0.05). Ill femoral lengthening patients whose healing index was less than 30days/cm, the number of CFUs was 46.8 in the during-Dist period, whereas it was 12.7 in patients whose healing index was more than 30 days/cm (p = 0.088). Conclusions:This study demonstrates a mobilization of EPC Population during distraction osteogenesis in human limb-lengthening patients. Distraction strain provoked increases in the plasma levels of EPC-mobilizing cytokines, Such as, VEGF and SDF-1. These findings Suggest a possibility that therapeutical approaches which modulate EPC mobilization may speed bone healing by angiogenesis-osteogenesis coupling during distraction osteogenesis. (C) 2009 Elsevier Inc. All rights reserved.N
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