Objective To analyze the mutation characteristics of GBA gene in one patient with Gaucher disease and platelet transfusion refractoriness.Methods A female patient with anemia and thrombocytopenia showed platelet transfusion refractoriness,and then the proband and her family were performed bone marrow smear,β-glucocerebrosidase activity in leukocytes (dried blood spot assay),Bultrasonography and gene sequencing examination and pedigree investigation.Results Pedigree investigation showed that the heterozygous mutation of GBA gene existed in the father,mother,son,daughter and sister of the proband.Bone marrow cytomorphologic examination showed that Gaucher cells accounted for 6.0％ in the female patient.The β-glucocerebrosidase activity in leukocytes was 3.78 nmol/(h · mg Pro).B-ultrasonography showed slightly splenomegaly.Gene sequencing found that the homozygous mutation of GBA gene,c.484A ＞ G,existed in the female patient.Conclusion The patients with Gaucher disease may appear platelet transfusion refractoriness due to hypersplenism.The mutation of GBA gene is the main pathogenic factor of the family with Gaucher disease.

Objective To analyze the features of clinical diagnosis and treatment of duodenal gastrointestinal stromal tumors(GIST).Methods Retrospective analysis was performed on clinical data of 5 cases of duodenal GIST treated in our hospital between April 2002 and May 2009.Results The duodenal GIST was mainly located in the 2nd(3/5)and 3rd portion of duodenum(2/5).Clinical diagnosis of the disease mainly depended on barium meal examination, gastrointestinal endoscopy, and CT scanning.Two patients were treated with pancreaticoduodenectomy, 1 with segmental duodenectomy and 2 with local resection.After operation, 2 patients had recurrence and 1 of them underwent adjuvant therapy with Gleevec.Conclusion Surgical resection is the only effective therapeutic method for duodenal GIST.Various surgical procedures are mainly determined by the location and size of the tumors.For patients with a high degree of pathologic grade, adjuvant therapy with Gleevec is necessary.

Objective To explore the clinical value of intraoperative ultrasound (IOUS) in liver resection with radiofrequency-assisted technique.Methods Thirty-two patients underwent hepatic resection with radiofrequency-assisted technique by IOUS-guidance.The use of IOUS before,during and after resection were analyzed.Results All patients were completed hepatic resection by IOUS-guidance successfully.All lesions were resected drastically,and the reserved blood vessel and biliary duct were not injured.The mean transaction time was (53.6 ± 28.4) minutes and the mean blood loss during resection was (115.3 ± 118.5)ml.No patient needed blood transfusion.Nine patients developed postoperative complications including 3 bile leaks,1 lymph leak and 6 pleural effusions.There were no cases of postoperative haemorrhage,liver failure or wound infection.The mean postoperative stay was (20.5 ± 16.8) days.Conclusions The hepatectomy with radiofrequency-assisted technique can be guided by IOUS accurately.As IOUS-guidance,the lesions are resected drastically and liver tissue is reserved farthest,and the injury of blood vessel and biliary duct is avoided.IOUS is significant value in liver resection with radiofrequency-assisted technique.

Objective To study the value of transcatheter arterial chemoembolization (TACE)in combination with portal vein chemotherapy (PVC) after resection of hepatocellular carcinoma to prolong survival. Methods From January 2000 to July 2007, 168 patients with hepatocellular carcinoma (HCC) underwent tumor resection in our hospital. After operation, TACE in combination with PVC was performed in 48 patients (combined group), TACE alone in 26 (TACE group), PVC alone in 50 (PVC group) and none of the above in 44 (control group). All the patients were followed up for 17-96 months. The 1-, 3-and 5-year survival rates were compared among the 4 groups. Results Accumulative 1-, 3-and 5-year survival rates were higher in the combined and TACE groups than in PVC and control groups. Conclusion After resection of HCC, combined use of TACE and PVC is the same as TACE in prolonging patient survival. However, it is better than PVC alone and non-surgical procedure.

Objective:To explore the efficacy of emergency ectopic embedment of a large extruded bone mass in the treatment of open lower limb bone defects.Methods:From June 2015 to June 2019, 11 patients were treated for open lower limb bone defects at Department of Traumatic Orthopedics & Microsurgery, Renmin Hospital of Wuhan University by primary ectopic embedment of a large extruded bone mass. They were 8 males and 3 females, aged from 18 to 57 years (mean, 35.3 years). The time from injury to operation ranged from 4 to 12 hours (mean, 6.3 hours). The size of free bone mass ranged from 3 to 16 cm (mean, 8.7 cm). At the emergency primary stage, following vascular and nerve anastomosis, large extruded bone masses were embedded ectopically to the sites with rich blood supply after cleaning and disinfection. The embedment was lateral to the thigh in 9 cases and in the groin in 2 cases. Wound repair was performed at the second stage, and bone replantation at the third stage, followed by internal plate fixation in 6 cases and external fixation in 5 cases. Fracture union was evaluated by regular X-ray follow-ups. At the last follow-up, Paley score was used to evaluate the curative outcomes, SF-36 score to evaluate functional recovery, and complications were recorded.Results:All patients were followed up for 6 to 50 months (mean, 15.5 months). Follow-ups observed no osteomyelitis. Fracture union was delayed in the 2 cases with external fixation but eventually achieved after bone graft and internal fixation. All fractures united after 5 to 12 months (mean, 8.5 months). The total treatment time ranged from 8 to 16 months (mean, 12.5 months). According to the Paley scores at the last follow-up, 7 cases were excellent, 3 good and one was poor, giving an excellent to good rate of 90.9% (10/11). The SF-36 scores for the postoperative quality of life averaged 86.7.Conclusion:Emergency ectopic embedment of a large extruded bone mass is a feasible treatment for open lower limb bone defects, with advantages of simplicity in operation and a low incidence of osteomyelitis.

Objective:To investigate the antibacterial and osteogenic properties of biomimetic mineralized iodine-loaded coating with micro-nano topography on the surface of bone implants.Methods:After the fiber network structure of sodium hydrogen titanate was constructed by alkali thermal reaction on the surface of Ti6Al4V (noted as AT), it was biomimetically mineralized in the modified simulated body fluid to form a micro-nano topology with high specific surface area (noted as AT-CaP), and finally loaded with PVPI to construct a novel antibacterial osseointegration coating (noted as AT-CaP-PVPI). The study was conducted in AT, AT-CaP, and AT-CaP-PVPI groups, in each of which 3 parallel experiments were performed. The morphology and colony counting of Staphylococcus aureus on the coating surface were observed to detect the in vitro antibacterial performance of the coating. Fifteen male SD rats were randomly divided into 3 groups ( n=5): AT, AT-CaP, and AT-CaP-PVPI. After intramedullary injection of Staphylococcus aureus into the lower end of the femur in the SD rats, titanium rods coated with AT, AT-CaP, and AT-CaP-PVPI were inserted into the marrow cavity. The osteogenesis, volume ratio of new bone mass and number of trabeculae on the surface of the femoral implants were compared between the 3 groups 4 weeks after operation. Results:In AT and AT-CaP groups, a large number of bacteria grew in their inherent elliptical or spherical shape on the implant surface and a large number of colonies were seen on the plate; in AT-CaP-PVPI group, the bacteria on the coating surface exhibited membrane deformation and depression, some of them were completely broken and dissolved, and a large number died. There was almost no new bone formation around the implants in AT group; new bone scattered around the implants with discontinuous distribution in AT-CaP group; a great amount of new bone was seen around the implants with even distribution but no signs of infection in AT-CaP-PVPI group. The volume ratio of new bone mass and the number of trabeculae on the implant surface in AT-CaP-PVPI group were 0.453±0.206 and 6.055±0.536, respectively, significantly higher than those in AT group (0.046±0.028 and 1.667±1.249) and AT-CaP group (0.188±0.052 and 3.804±0.889) ( P<0.05). Conclusion:Biomimetic mineralized iodine-loaded coating with micro-nano topography on the surface of bone implants shows good antibacterial and osteogenic properties.