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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.

Purpose: To investigate the role of pancreatic adenocarcinoma up-regulated factor (PAUF) in lung cancer. Method: Proliferation of lung cancer cell lines (A549 and H1299) was determined using MTS and Edu staining assays. Wound healing and transwell assays were performed to evaluate cell migration and invasion abilities. Lung cancer stem cell (CSC) marker expressions, including CD133, CD44, ALDH1, SOX2, and Oct4, were determined by western blot assay. Results: Knockdown of PAUF significantly inhibited A459 and H1299 cell proliferation (p < 0.01). The wound healing and transwell assay results indicated that depletion of PAUF markedly suppressed H1299 and A549 cell migration and invasion, compared with the control cells (p < 0.01). Knockdown of PAUF reduced distinct CSC marker expression, suggesting inhibition of CSC phenotypes, and reduced phosphorylated focal adhesion kinase (FAK), phosphorylated Src, and phosphorylated extracellular signal-regulated kinase (ERK), but not total FAK, Src, and ERK. These results suggested that knockdown of PAUF deactivated the FAK/Src/ERK signal pathway. Conclusion: Knockdown of PAUF inhibits lung cancer cell proliferation, migration, invasion, and CSC properties via deactivation of FAK/Src/ERK signal pathway. These results may provide a novel strategy for the development of lung cancer therapeutics.

Cerebral palsy (CP) is a group of permanent movement disorders that appear in early childhood. The electromyography (EMG) signal analysis and the gait analysis are two most commonly used methods in the clinic. In this paper, a cyclostationary model of the EMG signal is proposed. The model can combine the aforementioned two methods. The EMG signal acquired during the gait cycles is assumed to be cyclostationary due to the physiological characteristics of the EMG signal production. Then, the spectral correlation density is used to analyze the cyclic frequency (corresponding to the gait cycles) and spectral frequency (the frequency of EMG signal) in a waterfall representation of the two kinds of frequencies. The experiments show that the asymptomatic (normal) subjects and symptomatic subjects (with CP) can be distinguished from the spectral correlation density in a range of cyclic frequencies.

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.

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: 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) 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. The purpose of this study was to evaluate retrospectively the use of titanium elastic nails as a internal fixation in the treatment of aneurysmal bone cysts in children.Methods: Children with histological primary aneurysmal bone cyst were evaluated between 2010 to 2017. The patients were divided into 2 groups according to the treatment plan. Patients in the study group operated with curettage and bone grafts with high-speed burring + internal fixation of titanium elastic nails (TEN), and patients in the control group operated with curettage and bone grafts with high-speed burring. The curative effect of the children in the 2 groups were analyzed statistically according to the imaging results (Neer grading) and MSTS functional evaluation.Results: A total of 26 ABC patients (mean 6.5 years at surgery; 21 males;5 female) met the inclusion criteria and were evaluated between 2010 to 2017 after a mean follow-up of 5.2 years (range, 2.5-8.4 years), 16 of which in the study group and 10 in the control group. 9 of the 26 patients recurred (3 cases study group；6 in the control group；). According to the imaging results (Neer grading) 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 had a better MSTS functioncal recovery.Conclusion: The use of TEN can significantly improve the cure rate, reduce the recurrence rate and improve the quality of life for children with primary aneurysmal bone cyst.

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.