Effect of multiple hereditary exostoses on sports activity in children.

OBJECTIVE: The purpose of this clinical case-control study was to assess the level of sports activity in children with hereditary multiple exostoses (HME) and to compare with the degree of physical activity in children of the same age without pathology. METHODS: A case-control study was designed. Cases were drawn from children with HME diagnosed on the basis of clinical and radiographic evaluation with an age less then 12 years. Controls were chosen from a group of children with the same age and a negative family history for HME. All patients and controls were completed with the help of parents using the following evaluations: Tegner Activity Level Scale and University of California Los Angeles (UCLA) activity scale. RESULTS: A total of 154 individuals participated (54 cases and 100 controls). In the case groups, the mean age was 9.07; the mean number of exostoses resulted 29.51, while the mean value of UCLA and Tegner score resulted respectively 6.04 and 5.09. In the controls, the mean age was 8.88; mean UCLA and Tegner resulted respectively 7.17 and 5.64. Comparing the two groups, the only difference was between UCLA score (p = 0.0053). Moreover, comparing the results between female children affected by HME and female controls, we found a significant difference as regards UCLA score (p = 0.0045). CONCLUSION: Children affected by HME reported lower sports activity, in particular as regards female patients. Moreover, physical activity is not correlated with any other independent factor leading different patients to a similar level of ability in performing sport. STUDY DESIGN: Level III - Case Control Study.

Survival Analysis after Core Decompression in Association with Platelet-Rich Plasma, Mesenchymal Stem Cells, and Synthetic Bone Graft in Patients with Osteonecrosis of the Femoral Head.

Purpose The aim of this study was to report the rate of survivorship in patients with osteonecrosis of the femoral head treated with core decompression in association with mesenchymal stem cells (MSCs) implantation, platelet-rich plasma (PRP) injection, and synthetic bone graft. Methods We evaluated 24 hips in 16 patients, according to Ficat classification, treated by core decompression, injection of PRP and MSCs, and backfilling of the core tract with synthetic bone graft. Survivorship was estimated using Kaplan-Meier curves. Results The survivorship of core decompression in association with the procedure is 50% at 75 months of follow-up. The survival rate was 80% for patients in early stage and 28.6% for patients in advanced stage at 75 months. When we compared Kaplan-Meier survival curves of patients in stage III + IV and patients in stage I + II, we noticed that the survival functions are statistically different ( p < 0.05, log-rank test), particularly in stage I + II where we had a greater surviving core decompression, in comparison to patients in stage III + IV. Conclusion This technique is safe and good preliminary results were obtained in patients with early stages of the disease with no reported complications. Level of Evidence Level IV, therapeutic case series.

The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain.

PURPOSE: The aim of the study was to evaluate quality of life (QOL), global health status, pain, and level of satisfaction in patients with hereditary multiple exostoses (HME), and to correlate the association between the severity of diseases and age, sex, number of surgical procedures, and number of exostoses. METHODS: The data of 50 patients with HME were retrospectively evaluated and recorded. QOL was evaluated with the Short-Form Health Survey (SF-12) questionnaire, the 12-Item General Health Questionnaire (GHQ-12), and Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q-SF); intensity of pain was measured using the visual analogue scale (VAS). The association of age, gender, pain, quality of life, number of exostoses, and number of surgical procedures were evaluated and correlated. RESULTS: Mean number of exostoses in our patient's cohort resulted 18.12 ± 8.60, and every patient underwent to a mean of 5.62 ± 5.74 surgical procedures for the exostoses. Mean VAS resulted 5.16 ± 2.90. Considering SF-12, mental (MCS) and physical (PCS) component resulted, respectively, 45.36 ± 10.76 and 38.73 ± 11.09, while GHQ-12 and Q-LES-Q-SF were 15.48 ± 4.70 and 45.28 ± 9.55, respectively. We found a significant positive correlation between the number of exostoses and the number of surgical procedures (p < 0.001), a significant positive correlation between the number of surgical procedures and GHQ-12 (p = 0.422) and VAS (p = 0.0011), and a negative correlation between the number of surgical procedures and PCS (p = 0.0257) and between age and GHQ-12 (p = 0.0385). CONCLUSIONS: We can conclude that HME impact on patient quality of life as measured by the MCS and PCS scores similar to the disability associated with osteoarthritis in the mental component and tumors or diabetes as regards the physical component. Moreover, we found no difference in patients' quality of life as regards number of exostoses, age, and surgical procedure, but we found that women have a worse response as regards the psychological side than men.

Uncemented total hip arthroplasty in patients younger than 20 years.

BACKGROUND: Several diseases may lead to advanced hip disease and cause disabling symptoms in adolescents. In literature there is no consensus which is the optimal surgical treatment for young adults with end-stage osteoarthritis. The purpose of this study was to assess the clinical and radiological outcomes of uncemented total hip arthroplasty for the treatment of end-stage hip arthritis in patients younger than 20 years at a minimum follow-up of ten years. METHODS: We have retrospectively evaluated 24 patients who were 20 years or younger and underwent uncemented total hip arthroplasty. Minimum follow-up was 10 years. Clinical outcome was measured using the Harris Hip Score, Western Ontario McMaster, and the Short-Form 36. Hip calcification was evaluated using Brooker classification, while osteolysis was examined at the final follow-up according to the subdivision of Gruen. RESULTS: The mean preoperative Harris Hip Score was 36.94 points and improved to 92.3, and the mean preoperative WOMAC score improved from 84.72 to 28.45 The Mental Component score-SF-36 improved from a preoperative mean of 26.23 points to 58.96, while the Physical Component score-SF-36 improved from a preoperative mean of 26.38-49.95. All components were stable and osseo-integrated. Radiolucent lines were not present in any hips. We noted the presence of 4 calcifications. No patient needed implant revision. The only complication was an intraoperative femoral fracture. CONCLUSION: Total hip arthroplasty is a safe and reliable procedure for the treatment of end-stage arthritis in the young that provides good to excellent mid-term results.

Gradual ulnar lengthening in children with multiple exostoses and radial head dislocation: results at skeletal maturity.

PURPOSE: Deformities of the forearm and shortening of the ulna occur in 30 % of patients with hereditary multiple exostoses (HME), leading to radial head dislocation and loss of movement. Several surgical techniques have been described for treatment, and the aim of our study was to present clinical and radiographic results at skeletal maturity in 15 children that underwent the surgical procedure of ulnar lengthening with external fixators. METHODS: We evaluated 15 patients with ulnar shortening and radial head dislocation that underwent external fixation procedures. Radiographic assessment included measurement of radial articular angle, carpal slip, and ulnar shortening. Clinical evaluation included range of motion, MAYO Elbow Score, assessment function of the extremity as described by Stanton, the visual analog scale (VAS) for pain, and SF-12 to evaluate quality of life. RESULTS: The average follow-up period was 77 months and took place when each patient had reached skeletal maturity. MAYO Elbow Score improved from 34.7 to 93.3 points, while the average preoperative functional assessment criteria score was 1.6 points and improved to 4.4. The preoperative average VAS ranged from 8.2 to 2.3, while the SF-12 in its physical (PCS) and mental (MCS) components resulted, respectively, as 53.3 and 54.2. Pronation and supination improved from a preoperative average value of 35.6° and 51.3° to 70° and 80.6°, respectively, at the most recent follow-up visit. Flexion and extension ranged, respectively, from 143° and 2° to 146.7° and 3°. Ulnar shortening improved from 24 mm preoperative to 3 mm, and radial articular angle varied from 37.7° preoperative to 26° at the last follow-up. Only one complication occurred in our group, and one patient completely healed from a case of nonunion of the ulna. CONCLUSIONS: Ulnar lengthening is a safe and reliable procedure for the treatment of HME that provides good to excellent results and reduces radial head dislocation.

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

BACKGROUND: Hereditary multiple exostosis represents the most frequent bone tumor disease in humans. It consists of cartilage deformities affecting the juxta-ephyseal region of long bones. Usually benign, exostosis could degenerate in malignant chondrosarcoma form in less than 5% of the cases. Being caused by mutations in the predicted tumor suppressor genes, EXT1 (chr 8q23-q24) and EXT2 (chr 11p11-p12) genes, HMEs are usually inherited with an autosomal dominant pattern, although "de novo" cases are not infrequent. AIM: Here we present our genetic diagnostic report on the largest Southern Italy cohort of HME patients consisting of 90 subjects recruited over the last 5years. RESULTS: Molecular screening performed by direct sequencing of both EXT1 and EXT2 genes, by MLPA and Array CGH analyses led to the identification of 66 mutations (56 different occurrences) and one large EXT2 deletion out of 90 patients (74.4%). The total of 21 mutations (20 different occurrences, 33.3%) and the EXT2 gene deletion were novel. In agreement with literature data, EXT1 gene mutations were scattered along all the protein sequence, while EXT2 lesions fell in the first part of the protein. Conservation, damaging prediction and 3-D modeling, in-silico, analyses, performed on three novel missense variants, confirmed that at least in two cases the novel aminoacidic changes could alter the structure stability causing a strong protein misfolding. CONCLUSIONS: Here we present 20 novel EXT1/EXT2 mutations and one large EXT2 deletion identified in the largest Southern Italy cohort of patients affected by hereditary multiple exostosis.

Knee synovectomy in children with juvenile idiopathic arthritis.

The purpose of the study was to assess the outcomes of knee synovectomies in children with juvenile idiopathic arthritis. Thirty-one arthroscopic synovectomies were performed in 19 children (six oligoarthritis, 20 polyarthritis, five psoriatic arthritis). The percentage of recurrence in the group with oligoarthritis was 67%, in the group with polyarthritis was 95%, whereas all psoriatic arthritis recurred. The overall mean survival (i.e. free from recurrence) was 1.05 years (95% confidence interval, 0.74-1.35). Mean survival time was 1.69, 0.80 and 1.30 years, respectively, for oligoarthritis, polyarthritis and psoriatic arthritis. After synovectomy we observed two complications: thrombophlebitis of the omolateral superior femoral vein and septic arthritis. In conclusion, the mainstay of therapy for juvenile idiopathic arthritis remains medical treatment and intensive physiotherapy. The aim of arthroscopic synovectomy is to allow to make the most of nonsurgical therapy. It revealed more accurate and less invasive results than open synovectomy, maintained the range of motion of the joint, allowed early mobilization and required shorter hospitalization. Best results were observed in the group of oligoarthritis.