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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 investigate the nursing points of the vacuum sealing drainage technology in children with refractory soft tissue infection in the limb.Methods A total of 9 children with refractory soft tissue infection in the limb were treated with vacuum sealing drainage technology from December 2010 to October 2012.Results All children who underwent vacuum sealing drainage technology were successful,among which 7 cases underwent continuous vacuum sealing drainage for 7 days and 2 cases replaced VSD material after continuous vacuum sealing drainage for 10 days and all wound with skin graft healed,without any complication.Conclusions Vacuum sealing drainage can remove thoroughly necrotic tissue of the wound and promote wound healing,the key points of nursing are to keep drainage tube unobstructed,adjust appropriate negative pressure and give close observation.
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Objective To study the diagnosis and treatment of perforated congenital choledochal cyst(PTCC). Methods The clinical data of 10 children with PTCC were retrospectively analysed.Results 6 males, 4 females, average age 4.5 years old. The cyst perforted time within 12 hours was in 4 cases, 12～72 hours in 3, and more than 72 hours in 3. Of these cases, 2 had infection and the others had no obvious discomfort before perforation. Of 7 cases undergoing cyst excision and biliary reconstruction, 5 cases were recovered without complications; 2 occurred anastomostic leakaged(1 case had infection before perforation and the other with perforcted time more than 72 hours). 3 cases subjected to external drainage at first, and cyst excision and biliary reconstruction were performed on three months later. Conclusions If PTCC is treated earlier, cyst excision and biliary reconstruction can be performed as a primary operation.