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To analyze the clinical characteristics and genetic data of a child with type Ⅱ Bruce syndrome (type Ⅱ BS) admitted to the Department of Orthopedics, Shanxi Children′s Hospital at May 2020.A 3-day-old boy was admitted due to the pain and swelling of the right lower limb 3 days after birth.Due to the patient had multiple fractures, callus formation after clavicle and rib fracture, greendstick fracture of the humerus, right femur fracture, left tibia and fibula fracture, congenital clubfoot, and congenital contracture of wrist, elbow, hip and knee joint, and therefore, chromosome diseases were considered.Gene sequencing data showed gene mutation in PLOD2 with compound heterozygosity deletion of the child (proband), and mutation and heterozygosity deletion came from their parents, respectively.The patient was diagnosed as type Ⅱ BS.This case report alarms clinicians to identify a missense mutation of PLOD2 and loss of heterozygosity, so as to reduce the misdiagnosis rate and achieve early diagnosis and treatment.
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Objective:To investigate the clinical effect of minimally invasive treatment of supracondylar fracture of humerus with nerve injury and the need for surgical exploration of nerve.Methods:From August 2017 to September 2020, 34 cases of children with supracondylar fracture of humerus with nerve injury in the Department of orthopedics of Shanxi Children′s Hospital were selected for retrospective analysis.Closed reduction, Kirschner wire fixation and small incision surgery were used to explore the injured nerve.The follow-up period ranged from 6 months to 3 years, with a follow-up time of (2.15±0.49) years.The elbow function, radial nerve, median nerve and ulnar nerve function were evaluated according to the trial standard of upper limb peripheral nerve function evaluation of Hand Surgery Society of Chinese Medical Association.Results:The elbow function of children in this group: excellent 31 cases, good 2 cases, fair 1 cases, poor 0 cases, excellent 33 cases.Three patients failed to take early functional rehabilitation exercise.Two patients recovered after 2.5 months of treatment by professional orthopedic rehabilitation therapists and physical therapy.One of them did not cooperate with functional rehabilitation training.After 3.5 months of treatment by orthopedic rehabilitation therapists, elbow and finger functions were not affected.Two weeks after nerve injury: radial nerve function evaluation: excellent in 15 cases, good in 3 cases, fair in 4 cases, poor in 0 cases, excellent in 18 cases.Median nerve function evaluation: excellent in 5 cases, good in 2 cases, fair in 6 cases, poor in 0 cases, excellent in 7 cases.Ulnar nerve function evaluation: excellent 5 cases, good 0 cases, fair 1 cases, poor 0 cases, excellent 5 cases.At 3 months after injury, the excellent and good rate of radial nerve, median nerve and ulnar nerve was 100%.Conclusion:The supracondylar fracture of humerus with nerve injury is treated by minimally invasive surgery, and the nerve exploration is still a few.The recovery of nerve injury after surgery is smooth, and the clinical effect is good.
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Objective To study the clinical effects and immunological rejection of allogenic bone as autologous bone graft substitute materials in the treatment of developmental dislocation of the hip.Methods Selected 36 chlidren 40 hip joint undergoing Salter innominate osteotomy,shortening and derotational of the femur bone cutting,Allogeneic bone implantation.Results According to the clinical evaluation criteria of Mckay,excellent 32,good 6,satisfaction 87.5％.All 40 cases of hip bone graft healing,complications such as postoperative incisional drainage response,and no obvious immune rejection.Conclusions Allogeneic bone implantion in the treatment of developmental dislocation of the hip is safe.
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Objective To explore the application of the tracking scan technique in 16-slice spiral CT angiography, in order to improve the quality of CTA. Methods Three hundred patients who were divided into three groups randomly underwent CTA in tracking, testing and estimation scan respectively with GE LightSpeed 16-slice spiral CT. The data of all patients were transmitted to the workstation (AW4.2) and reconstructed. The quality of all images were evaluated by three experienced doctors with double-blind method and divided into four grades (A, B, C and D) from optimal to poor. Results The rate of grade A, B, C and D was 89.00%, 7.00%, 4.00% and 0 respectively for tracking scan, 70.00%, 11.00%, 15.00% and 4.00% respectively for testing scan, while 61.00%, 13.00%, 21.00% and 5.00% respectively for estimation scan. Conclusion Tracking scan technique is superior to testing and estimation scan in image quality of 16-slice spiral CT angiography.