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Background Hereditary multiple exostoses (HME), a rare genetic pediatric disorder, has a peculiar pathogenic mechanism. The results of previous studies have shown that HME is associated with mutations of the EXT1 and EXT2 genes at a molecular genetics level. In our study, two families who received therapy in the Department of Orthopedics of Shanghai Children's Hospital between June, 2017 and November, 2018 were recruited, and a mutational analysis of the EXT1 genes was conducted to further elucidating the relationship between HME and EXT1. Methods Venous blood samples were collected from individuals with HME and their families. Exon sequencing and RT-PCR were performed to comprehensively analyze 11 exons of the EXT1 gene. Results The deletion of exon 7 and the 2397 G>T mutation in exon 7 caused deletion mutation and nonsense mutation only in the HME patients. The mutations in exon 7 were tested and verified by Sanger sequencing. RT-PCR showed that the mRNA expression of EXT1 was significantly decreased in the mutation samples compared with the normal samples, which exerted a great influence on the function of EXT1. Conclusions This study identified new mutation sites for the pathogenesis of HME and further clarified the relationship between HME and EXT1.

Objective The aim of the present paper was to investigate the clinical efficacy of minimally invasive elastic stable intramedullary nailing (ESIN) for long bone fractures in children. Methods A total of 350 children with limb fractures from June 2012 to June 2018 were recruited and randomized into two groups: an ESIN group (n = 175) treated with elastic stable intramedullary nailing, and an MPIF group (n = 175), treated with metal plate internal fixation. Both groups received the same physical examination and routine medication. Operation related indexes, clinical efficacy, complications, and postoperative quality of life scores were analyzed and compared. Results The operation time, intraoperative blood loss, hospitalization time, and fracture healing time in the ESIN group were 43.74 ± 4.96 min, 8.14 ± 1.34 mL, 5.97 ± 1.88 days, and 55.89 ± 5.61 days, respectively, which were all significantly less than those in the MPIF group (all P < 0.001). In terms of common complications after limb fracture treatment, there were 6 cases of osteomyelitis, 5 cases of skin irritation response, and 7 cases of inflammatory granuloma in the MPIF group. There were 2 cases of skin irritation response and 5 cases of inflammatory granuloma in the ESIN group. The incidence of postoperative complications in the ESIN group was 4.00%, which was significantly lower than that in MPIF group (10.29%) (P, Workflow of clinical research. Note: TEN, titanic elastic nailing.

Objective: Diagnosis of occult fractures by initial plain radiographs remains challenging in children in the emergency room. This study was to assess the prevalence and distribution of occult fracture in children with acute extremities injuries (AEI) and clinical suspicion of fracture. Methods: We conducted a retrospective study to review the medical records of all pediatric patients with AEI in the orthopedic emergency room from January 1, 2017, to December 31, 2019. For patients with concerning history and physical examination but negative initial radiographs, we conducted the following three diagnostic strategies according to the choic of children's parents: immediate MRI scanning, [2] immediate CT scanning, or [3] empiric cast immobilization with orthopedic follow-up radiographs at 2 weeks post-injury (late radiographs). Prevalence and distribution of occult fracture were recorded. Results: A total of 43,560 pediatric patients meet the inclusion criteria. A total of 4,916 fractures of the extremities were confirmed by initial plain radiographs, and 550 occult fractures were confirmed by immediate MRI, immediate CT, or late radiographs. The prevalence of occult fracture in the extremities was 10.1% (550/5,466). Supracondylar fractures were the most prevalent (2,325/5,466, 42.5%) but had the lowest rate of occult fractures (117/2,325, 5.0%). The highest rate of occult fracture was distal epiphyseal fracture of the tibia and fibula (49/145, 33.8%), but these had a relatively lower prevalence of fractures (145/5,466, 2.65%). Conclusions: We should be aware of the relative high prevalence of occult fractures in the extremities in children, especially when the injured site is in the high incidence area of occult fracture such as ankle.

Background The main treatment method of the primary aneurysmal bone cyst (ABC) in extremities is to curettage and bone grafts with high-speed burring, radiotherapy, sclerotherapy, arterial embolism and hormone therapy can be used for the lesions whose location cannot be easily exposed by the surgery. Regardless of the method, high recurrence rates are a common problem. Purpose To explore and compare the effect and efficacy of the elastic intramedullary nails in the treatment of primary ABC in extremities. Method 26 patients with primary ABC admitted and treated from 2010 to 2016 were studied retrospectively. 26 patients were divided into 2 groups according to the treatment plan: the patients of the control group received curettage and bone grafts with high-speed burring; the patients of the study group received curettage and bone grafts with high-speed burring + elastic intramedullary nail (ESIN). According to the imaging results (Neer grading) and MSTS(musculoskeletal tumor society)functional evaluation, the curative effect of the children of the 2 groups were analyzed statistically. Results A total of 10 patients of the control group received curettage and bone grafts with high-speed burring and a total of 16 patients of the study group received curettage and bone grafts with high-speed burring + ESIN. All of the patients were followed up for more than 2 years. 9 of the 26 patients recurred. According to the imaging results and MSTS function evaluation, there was statistically significant difference in the curative effect between the 2 groups ( P < 0.05).The recurrence cases in the study group have a better MSTS functioncal recovery. Conclusion Curettage and bone grafts with high-speed burring + ESIN can significantly reduce the recurrence rate of primary ABC in extremities. The using of ESIN has a good curative effect and efficacy.

This study aimed to investigate the effect of auxiliary Kirschner wire (K-wire) technique in the closed reduction of children with Gartland type III supracondylar humerus fractures by comparing with manual reduction alone. Retrospective analysis was performed on the clinical data of 68 cases of supracondylar humerus fractures. Thirty-six patients received closed reduction and percutaneous fixation with auxiliary K-wire technique (group A). Thirty-two patients received conventional manual reduction and percutaneous pin fixation (Group B). In group A, the average operation time was 20.5 ± 8.5 minutes, the average frequency of intraoperative radiographic observations was 4.3 ± 1.1, the average fracture healing time was 6.2 ± 1.8 weeks, and the complication rate was 3/36, 8.3%. The mean operation time was 36.1 ± 10.2 minutes, the average frequency of intraoperative radiography was 8.9 + 1.7 times, the average fracture healing time was (6.1 ± 1.6) weeks, and the complication rate was 2/32, 6.3%. The operation time in group A was significantly shorter than that in group B. The difference between the 2 groups was statistically significant (P = .012). The frequency of radiography in group A was significantly less than that in group B (P = .001). Compared with manual reduction, auxiliary K-wire technology can significantly shorten the operation time, reduce the radiant quantity of the surgeon, improve the efficiency of closed reduction of children with Gartland type III supracondylar humerus fractures, and reduce the risk of developing postoperative complications. And meanwhile, there is no significant effect on the imaging and functional outcomes of affected extremities, which is worthy of respect.