Objective:To carry out genetic analysis on two families with carriers of small terminal translocations using karyotyping analysis and genomic copy number variation sequencing (CNV-seq).Methods:Two couples undergoing prenatal diagnosis at the Tianjin Central Hospital of Obstetrics and Gynecology respectively on April 12, 2020 and December 17, 2021 were selected as the study subjects. With informed consent, amniotic fluid and peripheral blood samples were collected and subjected to conventional karyotyping and CNV-seq analysis for the detection of chromosomal microdeletion/duplications.Results:Both couples had given births to children with chromosomal aberrations previously, and both fetuses were found to have abnormal karyotypes. CNV-seq showed that they had harbored microdeletion/duplications, and their mothers had both carried balanced translocations involving terminal fragments of chromosomes.Conclusion:For fetuses with small chromosomal segmental abnormalities, their parental origin should be traced, and the diagnosis should be confirmed with combined genetic techniques.

The study was aimed to assess the impact of Brucea javanica oil emulsion(BJOE)on the responsiveness of programmed death receptor-1(PD-1)monoclonal antibody to lung adenocarcinoma in mice.The experimental approach involved subcutaneously inoculating Lewis's lung adenocarcinoma(LLC)cells into C57BL/6 mice,which were then divided into four groups:model group,25 ml·kg-1 BJOE group,10 mg·kg-1 PD-1 group,and combination group(25 ml·kg-1 BJOE and 10 mg·kg-1 PD-1).Tumor volume,mass,and inhibition rate were evaluated;the apoptosis within tumor tissue was detected by TUNEL staining;CD4+and CD8+T cell proportions within tumor tissues were analyzed by flow cytometry;the levels of tumor necrosis factor-α(TNF-α),interferon-γ(IFN-γ)and granzyme B in tumor tissue were measured by enzyme-linked immunosorbent assay(ELISA).Additionally,LLC cells were categorized into a control group and three BJOE treatment groups(10,30,50 μl·ml-1),and programmed death ligand 1(PD-L1)expression in tumor tissues and LLC cells were assessed by Western blotting.Data showed that as compared with the model group,PD-1 monoclonal antibody alone did not significantly alter tumor volume,tumor mass,CD4+and CD8+T cell proportions,cytokine levels(IFN-γ,TNF-α,Granzyme B),or apoptosis in lung cancer-bearing mice.However,BJOE treatment reduced tumor volume and mass,enhanced CD4+and CD8+T cell proportions,increased cytokine levels,and augmented apoptosis(all P<0.05).Furthermore,the combination therapy of BJOE and PD-1 monoclonal antibody yielded significantly greater reductions in tumor volume and mass,with heightened CD4+and CD8+T cell proportions,cytokine levels,and apoptosis compared to either treatment alone(all P<0.05).Both BJOE treatment and the combination therapy significantly upregulated PD-L1 protein expression in tumor tissues compared to the model or PD-1 monoclonal antibody groups(P<0.05).Similarly,BJOE treatment at all tested concentrations significantly increased PD-L1 protein expression in LLC cells as compared to the control group(P<0.05).In conclusion,BJOE could upregulate PD-L1 expression in LLC cells and enhance the sensitivity of lung adenocarcinoma-bearing mice to PD-1 monoclonal antibodies.

Objective:To investigate the risk factors of bone cement leakage after percutaneous vertebroplasty (PVP) for osteoporotic vertebral compression fracture (OVCF).Methods:A multi-center, large-sample, case-control study was carried out to analyze the clinical data of 2 273 OVCF patients (2 689 vertebrae) undergone PVP at four hospitals between May 2018 and October 2021, including 994 males and 1 279 females, with the age of 52-91 years [(69.1±3.1)years]. Of all, 581 patients (604 vertebrae) were allocated to leakage group and 1 692 patients (2 085 vertebrae) to no leakage group according to the occurrence of bone cement leakage. The gender, age, fracture sites, vertebral compression degree, endplate integrity of fractured vertebrae, surgical segments, surgical approaches and bone cement injection volume were recorded. Univariate analysis was used to investigate the correlation between those indicators with bone cement leakage. Multivariate Logistic regression analysis was used to identify the independent risk factors for bone cement leakage.Results:Univariate analysis showed that gender, age, fracture sites, vertebral compression degree, bone cement injection volume were related to bone cement leakage after PVP ( P<0.05 or 0.01), but no correlation was found in the endplate integrity of fractured vertebrae, surgical segments and surgical approaches (all P>0.05). Multivariate Logistic regression analysis showed that fracture sites ( OR=1.68, 95% CI 1.11-2.55, P<0.05), vertebral compression degree more than 40% ( OR=1.98, 95% CI 1.29-3.02, P<0.01), bone cement injection volume greater than or equal to 5.5 ml ( OR=1.55, 95% CI 1.07-2.26, P<0.05) were significantly associated with bone cement leakage after PVP. Conclusion:Thoracic vertebral fracture, vertebral compression degree more than 40% and bone cement injection volume greater than or equal to 5.5 ml are independent risk factors for bone cement leakage after PVP in OVCF.

Objective:To investigate the current situation of cardiopulmonary bypass(CPB) in China and analyze the causes, to guide the formulation and implementation of technology standard.Methods:The survey task force sent out a nationwide survey to obtain up-to-date information on perfusion practice by ChSECC(Chinese Society of Extracorporeal Circulation). The unit of analysis for the survey was the medical center performs CPB. The survey consisted 48 questions covering four topics of qualifications, including certification and education, policies and practices, device and equipment, techniques used.Results:There were 540 of the 714 centers for an overall response rate of 76%. According to the annual number of CPB, they were divided into 4 groups: group A(≤50 cases/year), group B(50-100 cases/year), group C(100-500 cases/year) and group D(≥500 cases/year). The response rate of center with more than group D last year was 100%. Most of the perfusionists had certification issued by ChSECC. Although there were more than 80% of group D performed regular training and assessment of perfusionist, the result was still not ideal enough. Low utilization of safety equipment was not depend on the annual operation volume in most of responding centers. Ultrafiltration and blood protection technology had high application rate in group D compared with group A and B.Conclusion:The certification rate of perfusionists are high. Lower the number of annual CPB cases, lower the proportion of regular evaluation and training, and lower rate of standards performance. No matter the amount of CPB, the application rate of safety equipment is not ideal. Higher the number of CPB cases, higher the utilization rate of CPB related technologies.

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.

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.

【Objective】 To explore the effects of intraoperative autologous blood(ABT) transfusion on thrombelastography(TEG) in patients underwent neurosurgical procedures. 【Methods】 96 patients (49 males and 47 females) aged 15~79 years who received neurosurgical procedures in our hospital from November 2018 to November 2020 were retrospectively analyzed and divided into autologous blood transfusion group(Group A, n=52)and allogeneic blood transfusion group(Group B, n=44)according to different blood transfusion strategy in operation. The red blood transfusion status, hemoglobin (Hb), hematocrit (Hct), platelet (Plt), fibrinogen(Fib), prothrombin time (PT), activated partial thromboplastin time(APTT), and TEG parameters [activated clotting time(ACT), coagulation time (K), angle rate of clot formation(Angle), maximum amplitude(MA)] before and 1 day after surgery were compared between the two groups. 【Results】 The amount of average blood transfusion didn′t differ significantly by groups (P>0.05). The incidence of extra allogeneic blood transfusion was 17.3%(9/52) in group A, and the amount of average allogeneic blood transfusion in group A was significantly lower than that in group B(333.3±81.7 vs 639.8±258.2, P<0.05). Before operation, the differences in Hb, Hct, Plt, Fib, PT, APTT, ACT, K, MA and Angle levels between the 2 groups were not statistically significant (P>0.05). One day after operation, the Hb(g/L) (109.4±15.8 vs 97.0±15.1), Hct (%) (32.0±4.3 vs 28.3±6.1), Plt(×10⁹/L)(154.2±54.2 vs 120.7±41.6), Fib(g/L)(2.2±0.5 vs 1.6±0.6), MA(mm)(65.0±7.2 vs 60.7±8.7) and Angle levels(deg)(69.1±5.2 vs 62.6±9.8) in group A were significantly higher than those in group B(P<0.05), and the PT(s)(11.9±1.5 vs 12.8±0.9), APTT(s)(27.4±3.3 vs 30.4±5.4), ACT(s)(111.0±14.9 vs 119.1±12.3) and K levels(min)(87.2±25.7 vs 106.4±28.0) in group A were significantly lower than those in group B (P<0.05). 【Conclusion】 Intraoperative ABT in patients underwent neurosurgical procedures can reduce allogeneic blood transfusion, has less effect on coagulation function and TEG, and is safe and effective.

Objective:To investigate the safety and feasibility of endoscopic cholecystolithotomy after endoscopic ultrasonography (EUS)-guided lumen-apposing metal stent (LAMS) implantation in animals.Methods:Six miniature pigs of 30-35 kg were selected to laparotomy under intravenous anesthesia. Two to four sterile human stones with diameter of 0.8-2.0 cm were implanted in their gallbladder. After successful modeling, LAMS was implanted between the stomach and gallbladder under the guidance of EUS. Ultrafine endoscope was used to search and remove stones after passing the gastric stent into the gallbladder. Endoscopic sphincterotomy (EST) and endoscopic retrograde biliary drainage (ERBD) was performed to prevent bile leakage. And then ordinary endoscope was used to remove LAMS and close the wound. The success rate, operation time, and incidence of complications were analyzed.Results:Five pigs were successfully implanted with LAMS, and the ultrafine endoscope entered the gallbladder smoothly. Small stones were removed from the stone basket, and large stones were completely removed after laser lithotripsy. The total operation time was 87-128 min. No postoperative complications such as bleeding, perforation, infection, or biliary fistula were observed. Failure in 1 pig was due to the first EST plus ERBD, resulting in rapid reduction of gallbladder volume and away from the gastric cavity leading to puncture difficulties.Conclusion:Endoscopic cholecystolithotomy after EUS-guided LAMS implantation is safe and feasible, and may provide animal experimental evidence for potential therapeutic approach for patients with difficulty in cholecystectomy.

Objective: To investigate the clinical effect of percutaneous curved vertebroplasty in the treatment of thoracolum-bar osteoporotic vertebral compression fractures (OVCFs). Methods: All of 85 patients with single thoracolumbar vertebral OVCFs who met the admission criteria from January 2017 to July 2018 were divided into three groups according to the random dig-its table method. They were treated with percutaneous curved vertebroplasty, routine unipedicular PVP and routine bipedicular PVP respectively. There were 25 patients in the percutaneous curved vertebroplasty group, 6 males and 19 females; aged 56-80 years, with an average age of 70.6±9.7 years. Fracture vertebral body distribution: T₁₀ 2 cases, T₁₁ 4 cases, T₁₂ 3 cases, L₁ 9 cases, L₂ 3 cases, L₃ 1 case, L₄ 1 case and L₅ 2 cases. There were 32 patients in the routine unipedicular PVP group, 6 males and 26 fe-males; aged 58-75 years, with an average age of 69.5±9.3 years. Fracture vertebral body distribution: T₁₀ 2 cases, T₁₁ 4 cases, T₁₂ 5 cases, L₁ 11 cases, L₂ 6 cases, L₃ 1 case, L₄ 1 case and L₅ 2 cases. There were 28 patients in the routine bipedicular PVP group, 5 males and 23 females; aged 59-81 years, with an average age of 69.8±8.8 years. Fracture vertebral body distribution: T₁₀ 2 cases, T₁₁ 4 cases, T₁₂ 4 cases, L₁ 10 cases, L₂ 4 cases, L₃ 1 case, L₄ 1 case and L₅ 2 cases. The operation time, injected cement volume, in-traoperative blood loss were recorded and analyzed. Preoperative, postoperative 1 week and 3 months visual analogue scale scores and oswestry disability index were adopted to value the clinical improvements. Preoperative, postoperative 1 week and 3 months relative vertebral height and kyphosis correction, and the cement leakage rate were measured and analyzed. Results: There was no significant difference in the data of gender, age, VAS scores, ODI and distribution of fracture vertebrae among the three groups (P>0.05), and the baseline data was comparable. The average VAS score in the percutaneous curved vertebroplasty group was 2.3±0.5 at 1 week after surgery, that of the routine unipedicular PVP group was 2.4±0.4 and that of the routine bipe-dicular PVP group was 2.4±0.4; the average ODI in the percutaneous curved vertebroplasty group was 19.8%±3.9%, that of the routine unipedicular PVP group was 20.0%±4.1% and that of the routine bipedicular PVP group was 19.9%±3.8%; they were lower than the preoperative data, which were statistically significant (P<0.001). The average relative vertebral height in the percutaneous curved vertebroplasty group was 48.99%±9.23% at 3 months after surgery, that of the routine unipedicular PVP group was 47.11%±10.12% and that of the routine bipedicular PVP group was 46.71%±11.16%; the average kyphosis cor-rection in the percutaneous curved vertebroplasty group was 6.21%±1.94%, that of the routine unipedicular PVP group was 5.22%±2.07% and that of the routine bipedicular PVP group was 5.97%±2.09%; there was 1 cement leakage case in the per-cutaneous curved vertebroplasty group; those of the routine unipedicular PVP group were 4 cases and those of the routine bipe-dicular PVP group were 6 cases; there was no significant difference among the three groups (P>0.05). Operation time 39.10±2.00 min vs 38.70±1.70 min, injected cement volume 3.60±0.11 ml vs 3.50±0.13 ml and blood loss 5.10±0.30 ml vs 5.00±0.40 ml of the percutaneous curved vertebroplasty group and the routine unipedicular PVP group were less than those of the routine bipedicular PVP group, which were statistically significant (P<0.05). Conclution Percutaneous curved vertebroplasty could achieve satisfactory clinical outcomes for OVCFs, with advantages of less operation time, less blood loss, limited X-ray expo-sure, less injected cement volume, and more balanced augmentation for stabilization of the affected vertebrae and total verte-bral column.

Objective To explore the surgical efficacy of meningioma patients with epilepsy as the main symptoms. Methods A retrospective analysis of 124 meningioma patients with epilepsy as the main symptoms between January 2010 and January 2016,follow-up effect of epilepsy control. Results There were 94 cases of Simpson I orⅡgrade resection,27 cases of gradeⅢresection and 3 cases of grade Ⅳ resection. The surgical out-comes of patients were evaluated based on Engel′s classification. There were 98 cases(79.0%)of EngelⅠgrade, 11 cases(8.9%)of EngelⅡgrade,Engel Ⅲ and Ⅳ grade were 12 cases(9.7%)and 3 cases(2.4%). Among them,87 of 94 patients with Simpson I orⅡ grade resection epilepsy were well controlled,the satisfaction rate of epilepsy control was 92.6%. Conclusions Epilepsy as the main symptoms of meningioma patients need to clear about the seizure onset area preoperative,need to pay special attention to whether there is an independent epilepsy starting area of the distant site of the tumor. On the basis of the tumor resection as much as possible,at the same time dealing with the abnormal release of the cortex can effectively improve the efficacy of postoperative epilepsy control.