Objective: To explore the clinical and molecular genetic characteristics of complete androgen insensitivity syndrome (CAIS) caused by androgen receptor (AR) gene mutations. Methods: The clinical phenotype and postoperative gonadal pathological characteristics of a female XY patient with a chromosomal karyotype of 46 were analyzed, and full IDT testing was performed. Results: The patient had female appearance with underdeveloped vagina, but no normal uterine tissue was found on imaging examination. The pathological findings of gonadal tissue showed testicular tissue, including some spermatic cords. The AR gene was located on chromosome chrX: 66931243 exhibiting splicing site variation, and the variation site was c.1886-1G＞A (-). Conclusion: The clinical manifestations of androgen insensitivity syndrome are diverse, and AR deficiency is one of the important causes. This case study summarizes the clinical diagnosis and treatment principles of CAIS and analyzes the molecular genetic.

Objectives:To evaluate the clinical efficacy of percutaneous endoscopic decompression in the treatment of lumbar spinal stenosis(LSS)with degenerative scoliosis in geriatric patients.Methods:A retro-spective analysis was conducted on the LSS patients combined with degenerative scoliosis underwent percuta-neous endoscopic decompression between January 2020 and June 2021.18 patients(11 males and 7 females)aged 65-90(78.9±7.1)years old were included in the study.Percutaneous endoscopic unilateral or bilateral decompression was performed according to the clinical symptoms,comorbidities and imaging characteristics of the patients.The operative time,intraoperative blood loss and fluoroscopy times were recorded.Visual ana-logue scale(VAS)was used to evaluate back and leg pain before and immediately after operation,and at 6 months after surgery and final follow-up.Oswestry disability index(ODI)and Japanese Orthopaedic Association(JOA)score were applied to evaluate lumbar function before and after operation,and the Macnab criteria were adopted to assess the efficacy at final follow-up.The sagittal vertical axis(SVA),C7-CSVL,Cobb angle,lum-bar lordosis(LL),pelvic incidence(PI),pelvic tilt(PT),sacral slope(SS),PI-LL,and cross-sectional area of spinal canal before and after surgery were measured and analyzed.Results:All the patients underwent the surgery successfully,and 14 cases were treated with bilateral decompression and 4 cases with unilateral decompression.There were no serious complications during the perioperative period.The patients completed more than 12 months of follow-up.The operative time was 69.72±12.66min,intraoperative blood loss was 39.72±10.21mL,and the number of preoperative and intraoperative fluoroscopy was 5.11±1.49 times.The VAS scores of low back and leg pain immediately after operation,at 6 months after operation and final follow-up were significantly lower than those before operation(P＜0.05).The ODI and JOA score at final follow-up were significantly improved compared with those before operation(P＜0.05).The postoperative SVA,C7-CSVL,Cobb angle,PI-LL,and cross-sectional areas of spinal canal were improved compared with the preoperative values,respectively(P＜0.05).There were 7 excellent cases(38.90％),9 good cases(50.00％)and 2 acceptable cases(11.11％)at the final follow-up,and the total excellent and good rate was 88.89％.Conclusions:Percutaneous endoscopic decompression has the clinical efficacies of relieving back and leg pain,improving lumbar function and spino-pelvic alignment,and enlarging intraspinal cross-sectional area in treating old LSS patients with degenerative scoliosis,and it is small in wound,little in bleeding,and short in operative time.

BACKGROUND:Filamin B(FLNB)can crosslink the actin cytoskeleton into a dynamic structure that is essential for the directional movement of cells.It can regulate the proliferation,differentiation and apoptosis of chondrocytes.However,the effect of FLNB on osteoblast proliferation,migration and apoptosis has not been reported. OBJECTIVE:To investigate the effect of FLNB on the proliferation,migration and apoptosis of MC3T3-E1 cells. METHODS:The adenoviral vectors for knockdown of FLNB expression(sh-FLNB1,sh-FLNB2,sh-FLNB3)were constructed and infected with MC3T3-E1 cells.After screened by puromycin drug,the efficiency of FLNB knockdown was detected by western blot and RT-PCR.The MC3T3-E1 cell line with the best efficiency of FLNB knockdown was selected as the stable transient cell line of MC3T3-E1 for subsequent experiments.The cells were divided into blank group,mc3t3 group,sh-NC group(empty vector),and sh-FLNB group(sh-FLNB lentivirus).The blank group was cultured in cell-free α-MEM complete medium;the mc3t3 group was cultured in α-MEM complete medium alone;and the sh-NC and sh-FLNB groups were cultured with α-MEM medium containing 2.5 μg/mL puromycin.After 3 days of culture,cell counting kit-8 assay and cell scratch assay were used to detect the proliferation and migration ability of MC3T3-E1;flow cytometry was used to detect cell apoptosis;and RT-PCR was used to detect the expression of apoptosis-related genes. RESULTS AND CONCLUSION:Western blot and RT-PCR results showed that the efficiency of FLNB knockdown was the best in the sh-FLNB3(P<0.000 1),which was used as a stable cell line for subsequent experiments.Cell counting kit-8 data showed that the proliferative ability of MC3T3 cells was significantly weakened after knockdown of FLNB(P<0.05).Cell scratch assay results showed that the migration ability of MC3T3 cells was significantly decreased after knockdown of FLNB.Flow cytometry and RT-PCR results showed that the apoptotic rate of MC3T3-E1 cells increased after knockdown of FLNB,the expression of pro-apoptotic factor Bax increased significantly,and the expression of anti-apoptotic factor Bcl-2 decreased significantly(P<0.05).To conclude,knockdown of FLNB can reduce the proliferation ability of MC3T3-E1 cells,decrease the migration ability of the cells,and increase cell apoptosis.

Objective To analyze the clinical efficacy of percutaneous endoscopic decompression for adjacent segment diseases after lumbar fusion surgery.Methods A total of 26 patients with adjacent segment diseases after lumbar fusion surgery undergoing percutaneous endoscopy decompression in our hospital from January 2020 to June 2022 were retrospectively analyzed.The patients were operated through transforaminal approach in 11 cases and translaminar approach in 15 cases.There were 21 cases of unilateral decompression and 5 cases bilateral decompression.The clinical efficacy were evaluated by using the Visual Analogue Scale(VAS),Oswestry Disability Index(ODI),Japanese Orthopedic Association(JOA)scores,and modified MacNab criteria.Results All the operations were completed successfully without serious complications.The operative time was(85.4±21.7)min,the blood loss was(19.8±5.9)ml,and the number of intraoperative fluoroscopy was(7.7±2.4)times.The VAS scores of lower limb pain were significantly decreased immediately after operation(P=0.000).The patients were followed up for 10-24 months postoperatively,with an average of(16.0±3.7)months.At 3 months after operation and at the last follow-up,the VAS scores and ODI were significantly reduced compared to before surgery(F=105.444,P=0.000;F=852.714,P=0.000),while the JOA scores were significantly increased(F=256.222,P=0.000).At the last follow-up,the efficacy was excellent in 18 cases(69.2％),good in 5 cases(19.2％),and fair in 3 cases(11.5％),with an overall excellent and good rate of 88.5％(23/26).Conclusion Percutaneous endoscopic treatment of adjacent segment diseases after lumbar fusion can achieve good clinical efficacy.

Objective    To investigate the predictive value of prognostic nutritional index (PNI) in complications after thoracoscopy-assisted radical resection of esophageal cancer. Methods    We collected the clinical data of patients who underwent thoracoscopy-assisted esophagectomy in the First Affiliated Hospital of Xinjiang Medical University from January 2015 to June 2020. The predictive value of PNI for postoperative complications was evaluated by establishing receiver operating characteristic (ROC) curve and the optimal cut-off point was determined. The patients were divided into a high PNI group and a low PNI group according to the cut-off point. The differences of baseline data and perioperative complications-related indicators between the two groups were compared and analyzed. Univariate and multivariate analyses were used to investigate the influence of PNI and other related indexes on postoperative complications. Results    A total of 116 patients were enrolled in this study, including 75 males and 41 females, aged 65 (58-69) years. The area under ROC curve was 0.647, and the optimal cut-off point was 51.9. According to the cut-off point, there were 45 patients in the high PNI group and 71 patients in the low PNI group. The overall complication rate (χ2=10.437, P=0.001) and the incidence of postoperative pulmonary infection (χ2=10.811, P=0.001) were statistically different between the two groups. The results of univariate analysis showed that the duration of ventilator use (Z=–3.136, P=0.002), serum albumin value (t=2.961, P=0.004), and PNI value (χ2=10.437, P=0.001) were the possible risk factors for postoperative complications after thoracoscopy-assisted esophagectomy. The results of multivariate analysis suggested that the duration of ventilator use (OR=1.015, P=0.002) and the history of drinking (OR=5.231, P=0.013) were independent risk factors for postoperative complications, and high PNI was the protective factor for postoperative complications (OR=0.243, P=0.047). Conclusion    PNI index has a certain value in predicting postoperative complications, which can quantify the preoperative nutritional and immune status of patients. Drinking history and duration of ventilator use are independent risk factors for postoperative complications of thoracoscopy-assisted esophagectomy, and high PNI is a protective factor for postoperative complications.

【Objective】 To investigate the clinical characteristics and molecular genetic mechanism of 46,XY complete gonadal dysplasia (46,XY CGD) caused by a new mutation of NR5A1 gene. 【Methods】 The clinical data of a female patient with 46 XY karyotype were retrospectively analyzed, and the whole exon group and mitochondrial group genes were detected. 【Results】 The clitoris was hypertrophic. The patient had both urethral orifice and vaginal orifice, and there was no common passage between them. Ultrasonography showed an unclear primordial uterus and bilateral ovaries. The gonad biopsy showed poorly developed testicular tissue. Karyotype was 46,XY. The detection of whole exon group and mitochondrial group genes indicated a new heterozygous missense mutation in NR5A1 gene on chromosome 9, and the variation information was c.205C>T:p. Arg69Cys. The mother did not carry the gene mutation. 【Conclusion】 The clinical manifestations of 46,XY CGD are diverse. NR5A1 gene mutation is one of the important causes, which provides a basis for the clinical diagnosis and pathogenesis of the disease.

Objective:To explore the effect of mobile C-arm X-ray system in the surgical treatment of thoracolumbar spine fractures.Methods:The clinical data of 120 patients with thoracolumbar spine fractures admitted to People′s Hospital of Xinjiang Uygur Autonomous Region from July 2018 to July 2020 were retrospectively analyzed. According to different surgical methods, they were divided into control group and experimental group, with 60 cases in each group. The control group adopted the traditional posterior median approach lumbar fusion, and the experimental group adopted the percutaneous pedicle screw internal fixation guided by the C-arm system. The operation time, bleeding, operation cost, visual analog score (VAS) and activities of daily living (ADL) and complication rate were compared and analyzed between the two groups. Measurement data with normally distribution were expressed as mean±standard deviation( ± s), and the comparison between groups was performed by two independent samples t test. The comparison between groups of count data was performed by chi-square test. Results:The operation time, the blood loss, the cost, VAS, ADL score, the complication rate of the control group were (119.83 ± 10.96) min, (90.56±30.52) mL, (4.90±0.75) ten thousand yuan, (4.17±0.64) scores, (78.11±12.78) scores and 30%, while the experimental group were (103.50±13.76) min, (73.88±40.35) mL, (4.06 ± 0.97) ten thousand yuan, (2.40±0.49) scores, (86.00±8.86) scores and 5%, respectively, showing a significant difference between the two groups ( P<0.05). Conclusions:Application of mobile C-arm X-ray system in thoracolumbar spine minimally invasive surgery can reduce the probability of complications, improve the quality of life of patients, and accelerate the rehabilitation. It is valuable for popularization.

Objective:To analyze the incidence and mortality trends of female breast cancer in China from 1990 to 2019 and the impact of age-period-cohort (APC) on it.Methods:The incidence and mortality of breast cancer of Chinese women aged 20-95 years from 1990 to 2019 were collected from the Global Burden of Disease (GBD) in 2019. Joinpoint software was used to estimate the average annual percentage change rate (AAPC) of age standardized incidence and mortality, and analyze the changing trend of disease burden of breast cancer in Chinese women from 1990 to 2019. The R language based APC model developed by the National Cancer Institute of the United States was used to analyze the impact of age, period and cohort on their changes.Results:From 1990 to 2019, the age standardized incidence of female breast cancer in China showed an upward trend, from 17.07/100 000 in 1990 to 35.61/100 000 in 2019, with an average annual increase of 2.59% (95% CI: 2.45%-2.73%, P<0.001) , which was higher than the global level (AAPC=0.47%, 95% CI: 0.31%-0.63%, P<0.001) . The standardized mortality showed a slight downward trend, from 9.16/100 000 in 1990 to 9.01/100 000 in 2019, with a decrease of 0.05% (95% CI: -0.20%-0.09%, P=0.479) , but there was not a statistically significant difference. APC model results showed that the incidence and mortality of female breast cancer increased with age. With the passage of time, the incidence from 1990 to 2019 showed an upward trend, and the incidence risk rose to 1.49 in the 2015-2019 period (95% CI: 1.42-1.57, P<0.001) . The mortality showed a downward trend, and the death risk was the highest in the 1990-1994 period ( RR=0.79, 95% CI: 0.74-0.83, P<0.001) . Cohort effect results showed that the later the women were born, the higher the risk of morbidity. The women born in the cohort from 1995 to 1999 had the highest risk ( RR=3.12, 95% CI: 1.82-5.33, P<0.001) . The risk of death showed a unimodal distribution, showing a trend of first increasing and then decreasing, the later the women were born, the lower the risk of death. The birth cohort from 1950 to 1954 had the highest risk of death ( RR=1.04, 95% CI: 0.98-1.09, P<0.001) , and then showed a downward trend, falling to 0.48 (95% CI: 0.19-1.24, P<0.001) in the birth cohort from 1995 to 1999. Conclusion:From 1990 to 2019, the incidence of breast cancer in Chinese women shows an upward trend, which is significantly higher than the global increase, and the mortality tends to stabilize. APC model analysis finds that the incidence and mortality increase with age, and the period and cohort effects show that the incidence risk of breast cancer in Chinese women gradually increases with the passage of the period and cohort. The period effect of mortality shows a downward trend, and the cohort effect of mortality shows a unimodal distribution, showing a trend of first increasing and then decreasing.

Objective To investigate the surgical technique and the curative effect of the intact ectocystectomy for renal hydatid cyst.Method Totally 7 cases of renal echinococcosis patients treated by the intact ectocystectomy of renal hydatid complete at Urology,the First Affiliated Hospital of Xinjiang Medical University from Mar 2007 to Dec 2015 were analyzed by retrospective analysis,the surgical procedure,postoperative pathologic results and efficacy were summarized.Results Visible in the operation of renal parenchyma and hydatid cysts,along a detachable gap between the gaps,renal hydatid capsule could be completely removed.The renal wound was smooth grossly,without much blood,hydatid ectocyst was removed completely,with smooth wall,pathology inspection for the attached results confirmed the capsule wall collagen fiber tissue,a small amount of renal parenchyma.Totally 7 cases of surgical success,with no liquid capsule rupture overflow,and they were followed up for 1-36 months,no recurrence and residual cavity formation and other complications occurred.Conclusion The results have indicated that the intact ectocystectomy is a radical therapy for renal echinococcosis and retain renal parenchyma.

Objective To introduce a new trocar position in the posterior laparoscopic for the treatment of retrocaval ureter.Methods From August 2011 to October 2014,5 cases with retrocaval ureter treated with posterior laparoscopic were retrospectively analyzed,including 3 males and 2 females,aged from 15 to 46 years(mean 34 years).The history of disease ranged from 1 to 10 months,with 3 cases presented with low back pain,and 2 cases being detected uronephrosis by check-up.Results All the operations were successfully completed,with the operation duration ranged from 75-125 min (mean 90min),and blood loss ranged from 20ml to 50 ml(mean 35 ml).The average hospital stay was 6 days(5-7d).There was no wound infection or urine leakage.Ureteral double-J tubes were removed 4 weeks after surgery.Postoperative followup ranged from 2 weeks to 6 months (mean 30 months).There was no anastomotic stricture,and the hydronephrosis relieved.Conclusions Trocar position adjustment of posterior laparoscopic in treatment of retrocaval ureter is convenient to operate,which also shortened the time of operation,reduced the difficulty of operation and the surgeons' fatigue.