Objective To construct and identify the induced pluripotent stem cells(iPSCs)derived from peripheral blood mononuclear cells(PBMCs)of a patient with facioscapulohumeral muscular dystrophy(FSHD),initially explore their differentiation ability into skeletal muscle cells,and evaluate the feasibility of using this cell model for disease mechanism research.Methods The PBMCs from one FSHD patient were collected and transfected with Sendai virus containing four reprogramming transcription factors,including OCT4,SOX2,KLF4 and c-MYC,so as to obtain the iPSCs from the FSHD patient.Then,the iPSCs were induced to differentiate into skeletal muscle cells.The characteristics of the iPSCs and skeletal muscle cells were evaluated by the optical genome mapping technolo-gy,karyotyping analysis,immunofluorescence staining,and real-time fluorescence quantitative PCR.Results The iPSCs from the FSHD patient were successfully obtained,which could express the markers of iPSCs.The karyotype and D4Z4 repeat unit of the iPSCs were consistent with that of the patient.The iPSCs could be induced to differentiate into skeletal muscle cells in vitro,which expressed the pathogenic gene DUX4 and its regulatory genes.Conclusion The PBMCs from one FSHD patient can be reprogrammed into iPSCs,which can be differentiated into disease-related myogenic progenitor cells and myotubes.This provides a useful cell model for in vitro studies of the pathogenesis of FSHD and a tool for the effective treatment of FSHD.

Objective:To analyze the prenatal characteristics and pregnancy outcomes of fetuses with 17q12 microdeletion or microduplication.Methods:From January 2018 to December 2022, 14 fetuses diagnosed with 17q12 microdeletion and three with 17q12 microduplication by chromosomal microarray analysis folloning invasive prenatal diagnostic techniques at Nanjing Maternity and Child Health Care Hospital were retrospectively enrolled in this study. Relevant articles up to February 1, 2023, were retrieved from PubMed, Embase, China National Knowledge Infrastructure, Wanfang database, and Yiigle with the terms "17q12 microdeletion", "17q12 microduplication", "prenatal diagnosis", and "pregnancy outcome". Eighty-four 17q12 microdeletion cases and fourteen 17q12 microduplication cases were retrieved. Prenatal ultrasound features and pregnancy outcomes of those fetuses were analyzed and summarized.Results:In this study, ninety-eight 17q12 microdeletion cases and seventeen 17q12 microduplication cases were analyzed. (1) 17q12 microdeletion: The prenatal ultrasound showed all the 17q12 microdeletion cases had renal abnormalities (100.0%, 98/98), and renal hyperechogenicity was detected in 81.6% (80/98) of them; pedigree analysis suggested that 74.2% (49/66) mutations were de novo; 64.1% (41/64) of pregnant women chose to terminate the pregnancy and 35.9%(23/64) chose to continue pregnancy; eight out of 12 live births who were followed up had different degrees of abnormalities and four were normal during the follow-up period. (2) 17q12 microduplication: Among the 17 fetuses, 10 had upper gastrointestinal obstruction; pedigree analysis suggested that four were de novo mutations (4/13); nine out of 14 pregnant women with reported pregnancy outcomes chose to terminate the pregnancy, and five continued the pregnancy to delivery; follow up of the live births found that four neonates were normal and one had a good prognosis after surgery. Conclusions:Fetuses with 17q12 microdeletion often show renal hyperechogenicity in ultrasound images, and most mutations were de novo with poor prognosis. 17q12 microduplication in fetuses is often characterized by upper gastrointestinal obstruction, and most inherited from their parents.

Objective:To investigate the current status of maternal body image during pregnancy, mother-infant attachment and postpartum depression and explore the mediating effect of mother-infant attachment on maternal body image during pregnancy and postpartum depression, in order to effectively reduce the incidence of postpartum depression and provide reference and guidance for alleviating depressive symptoms.Methods:A total of 362 pregnant women admitted to obstetric wards in Women′s Hospital of Nanjing Medical University were selected for a cross-sectional investigation by applying the Edinburgh Postnatal Depression Scale, the Body Image in Pregnancy Scale and the Maternal Postnatal Attachment Scale by convenient sampling from July to September 2022. Model 4 in the SPSS macro program PROCESS was used to test the mediating effect of maternal infant attachment between body image and postpartum depression.Results:Totally 362 valid questionnaires were retrieved including 194 individuals aged ≤30 years old and 168 individuals aged >30 years old. The scores of maternal body image during pregnancy, mother-infant attachment and postpartum depression were (89.24 ± 15.56), (71.40 ± 8.05), 7.50 (4.00, 11.00) points.Conclusions:Body image during pregnancy can not only directly predict postpartum depression, but also indirectly predict postpartum depression through the mediating effect of mother-infant attachment. In order to prevent or reduce the occurrence of postpartum depression, nursing staff should carry out intervention research based on influencing the path of postpartum depression from the perspective of positive psychology.

Objective:To evaluate the safety and efficacy of the domestic robotic surgical system for general surgery.Methods:A prospective single-center, single-arm exploratory study was conducted at Gansu Provincial People's Hospital from Jun 2022 to Oct 2023, enrolling 54 patients undergoing general surgery using domestically produced Toumai? Endoscopic Surgical Robotic System. The primary study endpoint was surgical success rate, and the secondary study endpoints were intraoperative bleeding, operative time, complications, system performance, hospitalization days.Results:In this study, robotic surgery was successfully completed in 52 patients, and in 2 patients undergoing thyroid operation it was converted to open surgery due to bleeding, with a success rate of 96%, no organ injury or death during surgery, and no system failure. The types of surgery included cholecystectomy, radical gastric cancer resection, radical colorectal cancer resection, inguinal hernia repair, partial hepatectomy, total thyroidectomy and choledocho-jejunal anastomosis.Conclusion:The study provides preliminary evidence of the safety and efficacy of the Toumai? Endoscopic Surgical Robotic System for the treatment of general surgical diseases.

Objective:To explore the effect of pediatric critical illness score (PCIS), pediatric risk of mortality Ⅲ score (PRISM Ⅲ), pediatric logistic organ dysfunction 2 (PELOD-2), pediatric sequential organ failure assessment (p-SOFA) score and Glasglow coma scale (GCS) in the prognosis evaluation of septic-associated encephalopathy (SAE).Methods:The data of children with SAE admitted to the Pediatric Intensive Care Unit (PICU), Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences from January 2010 to December 2020 were retrospectively analyzed. They were divided into the survival and death groups according to the clinical outcome on the 28th day after admission. The efficiency of PCIS, PRISM Ⅲ, PELOD-2, p-SOFA and GCS scores for predicting death were evaluated by the area under the ROC curve (AUC). The Hosmer-Lemeshow goodness-of-fit test assessed the calibration of each scoring system.Results:Up to 28 d after admission, 72 of 82 children with SAE survived and 10 died, with a mortality rate of 12.20%. Compared with the survival group, the death group had significantly lower GCS [7 (3, 12) vs. 12 (8, 14)] and PCIS scores [76 (64, 82) vs. 82 (78, 88)], and significantly higher PRISM Ⅲ [14 (12, 17) vs. 7 (3, 12)], PELOD-2 [8 (5, 13) vs. 4 (2, 7)] and p-SOFA scores [11 (5, 12) vs. 6 (3, 9)] ( P<0.05). The AUCs of PCIS, PRISM Ⅲ, PELOD-2, p-SOFA and GCS scores for predicting SAE prognosis were 0.773 ( P=0.012, AUC>0.7), 0.832 ( P=0.02, AUC>0.7), 0.767 ( P=0.014, AUC>0.7), 0.688 ( P=0.084, AUC<0.7), and 0.692 ( P=0.077,AUC<0.7), respectively. Hosmer-Lemeshow goodness-of-fit test showed that PCIS ( χ2=5.329, P=0.722) predicted the mortality and the actual mortality in the best fitting effect, while PRISM Ⅲ ( χ2=12.877, P=0.177), PELOD-2 ( χ2=8.487, P=0.205), p-SOFA ( χ2=9.048, P=0.338) and GCS ( χ2=3.780, P=0.848) had poor fitting effect. Conclusions:The PCIS, PRISM Ⅲ and PELOD-2 scores have good predictive ability assessing the prognosis of children with SAE, while the PCIS score can more accurately evaluate the fitting effect of SAE prognosis prediction.

Objective:To investigate the feasibility and clinical outcome of single-stage posterior total en bloc spondylectomy via posterior approach for lowerlumbar spinal malignant tumors.Methods:The clinical data of 23 patients with metastatic tumors of the lower lumbar spine who underwent single-stage posterior total En bloc spondylectomy in our hospital from January 2012 to June 2018 were analyzed retrospectively. There were 14 males and 9 females, age 57.9±10.8 years old (range, 37-74 years old). All patients were treated with single-stage posterior total en blocspondylectomy, titanium mesh implantation and posterior pedicle screw fixation. Observation items included operation time, intraoperative blood loss, postoperativehospital stays,the visual analogue scale (VAS) and the Eastern Cooperative Oncology Group (ECOG) physical condition score of the patients before operation,1 month after operationand 6 months after operation, the American spinal injury association (ASIA) spinal cord injury grade pre-operation andpostoperation, perioperative complications, local recurrence and survival state.Results:The median fellow-up time of this group was 20 months (range 6-56 months). At the end of the last follow-up, there were 3 patients who survived, the average follow-up time of the three patients who survived to the last follow-up was 37.3±11.7 months. One of them had local recurrence, but survived with tumor. The operative time was 155-510 min, with an average of 258±96 min, the intraoperative blood loss was 750-2 500 ml, with an average of 1 258.7±528.6 ml, and the postoperative hospital stay was 10-30 d, with an average of 18.4±4.6 d. VAS score decreased from 7.4±0.8 before operation to 2.6±0.6 1 month after operation, and ECOG score decreased from 1.6±0.9 before operation to 0.9±0.76 months after operation, showing statistically significant differences ( P<0.05). 6 patients presented with postoperative acute nerve root stimulation, 3 patients presented with postoperative cerebrospinal fluid leakage, 3 patients presented with postoperative surgical site infection, 1 with pulmonary infection, and 3 patients presented with titanium mesh displacement. Conclusion:Single-stage posterior total En bloc spondylectomy is feasible for the treatment of metastatic tumors of the lower lumbar spine. Although the operation is quite challenging due to its special anatomical structure and biomechanical characteristics,the long-term follow-up effect is satisfactory.

Objective:To construct a real-time monitoring system based on computer vision for monitoring withdrawal speed of colonoscopy and to validate its feasibility and performance.Methods:A total of 35 938 images and 63 videos of colonoscopy were collected in endoscopic database of Renmin Hospital of Wuhan University from May to October 2018. The images were divided into two datasets, one dataset included in vitro, in vivo and unqualified colonoscopy images, and another dataset included ileocecal and non-cecal area images. And then 3 594 and 2 000 images were selected respectively from the two datasets for testing the deep learning model, and the remaining images were used to train the model. Three colonoscopy videos were selected to evaluate the feasibility of real-time monitoring system, and 60 colonoscopy videos were used to evaluate its performance.Results:The accuracy rate of the deep learning model for classification for in vitro, in vivo, and unqualified colonoscopy images was 90.79% (897/988), 99.92% (1 300/1 301), and 99.08% (1 293/1 305), respectively, and the overall accuracy rate was 97.11% (3 490/3 594). The accuracy rate of identifying ileocecal and non-cecal area was 96.70% (967/1 000) and 94.90% (949/1 000), respectively, and the overall accuracy rate was 95.80% (1 916/2 000). In terms of feasibility evaluation, 3 colonoscopy videos data showed a linear relationship between the retraction speed and the image processing interval, which indicated that the real-time monitoring system automatically monitored the retraction speed during the colonoscopy withdrawal process. In terms of performance evaluation, the real-time monitoring system correctly predicted entry time and withdrawal time of all 60 examinations, and the results showed that the withdrawal speed and withdrawal time was significantly negative-related ( R=-0.661, P<0.001). The 95% confidence interval of withdrawal speed for the colonoscopy with withdrawal time of less than 5 min, 5-6 min, and more than 6 min was 43.90-49.74, 40.19-45.43, and 34.89-39.11 respectively. Therefore, 39.11 was set as the safe withdrawal speed and 45.43 as the alarm withdrawal speed. Conclusion:The real-time monitoring system we constructed can be used to monitor real-time withdrawal speed of colonoscopy and improve the quality of endoscopy.

Objective:To construct an artificial intelligence-assisted diagnosis system to detect gastric ulcer lesions and identify benign and malignant gastric ulcers automatically.Methods:A total of 1 885 endoscopy images were collected from November 2016 to April 2019 in the Digestive Endoscopy Center of Renmin Hospital of Wuhan University. Among them, 636 were normal images, 630 were with benign gastric ulcers, and 619 were with malignant gastric ulcers. A total of 1 735 images belonged to training data set and 150 images were used for validation. These images were input into the Res-net50 model based on the fastai framework, the Res-net50 model based on the Keras framework, and the VGG-16 model based on the Keras framework respectively. Three separate binary classification models of normal gastric mucosa and benign ulcers, normal gastric mucosa and malignant ulcers, and benign and malignant ulcers were constructed.Results:The VGG-16 model showed the best ability of classification. The accuracy of the validation set was 98.0%, 98.0% and 85.0%, respectively, for distinguishing normal gastric mucosa from benign ulcers, normal gastric mucosa from malignant ulcers, and benign ulcers from malignant ulcers.Conclusion:The artificial intelligence-assisted diagnosis system obtained in this study shows noteworthy ability of detection of ulcerous lesions, and is expected to be used in clinical to assist doctors to detect ulcer and identify benign and malignant ulcers.

Objective:To establish a deep convolutional neural network (DCNN) model based on YOLO and ResNet algorithm for automatic detection of colorectal polyps and to test its function.Methods:Colonoscopy images and videos collected from the database of Digestive Endoscopy Center of Renmin Hospital of Wuhan University from January 2018 to March 2019 were divided into three databases (database 1, 3, 4). The public database CVC-ClinicDB (composed of 612 polyp images extracted from 29 colonoscopy videos provided by Barcelona Hospital, Spain) was used as the database 2. Database 1 (4 700 colonoscopy images from January 2018 to November 2018, including 3 700 intestinal polyp images and 1 000 non-polyp images) was used for establishing training and verifying the DCNN model. Database 2 (CVC-ClinicDB) and database 3 (720 colonoscopy images from January 2019 to March 2019, including 320 intestinal polyp images and 400 non-polyp images) were used for testing the DCNN model on image detection. Database 4 (15 colonoscopy videos in December 2019, containing 33 polyps) was used for testing the DCNN model on video detection. The sensitivity, specificity, accuracy and false positive rate of the DCNN model for detecting intestinal polyps were calculated.Results:The sensitivity of the DCNN model for detecting intestinal polyps in database 2 was 93.19% (602/646). In database 3, the DCNN model showed the accuracy of 95.00% (684/720), sensitivity of 98.13% (314/320), specificity of 92.50% (370/400), and false positive rate of 7.50% (30/400) for detecting intestinal polyps. In database 4, the DCNN model achieved a per-polyp-sensitivity of 100.00% (33/33), a per-image-accuracy of 96.29% (133 840/138 998), a per-image-sensitivity of 90.24% (4 066/4 506), a per-image-specificity of 96.49% (129 774/134 492), and a per-image-false positive rate of 3.51% (4 718/134 492).Conclusion:The DCNN model constructed in the study has a high sensitivity and specificity for automatic detection of colorectal polyps both in the colonoscopy images and videos, has a low false positive rate in the videos, and has the potential to assist endoscopists in diagnosis of colorectal polyps.

Objective:To understand sexual needs and factors of risky sexual behaviors among elderly men at different ages in two communities of Qiandongnan Miao and Dong autonomous prefecture and provide basis for targeted HIV prevention and intervention.Methods:Two communities in the prefecture were selected as study sites. Questionnaire surveys were carried out among elderly men aged 50 and over who visited or consulted in the communities from June to December 2018, and they were tested for HIV and syphilis antibodies.Results:Among 400 elderly men, 209 (52.2%) were 50-64 years old, and 191(47.8%) were above 65 years old. They were mainly Miao people, accounting for 66.3% (265/400), and 235 (58.8%) had an education no more than 6 years. HIV awareness of the two age groups were only 25.8% (54/199) and 26.2% (50/191), respectively. Among those aged 50-64, 142 (68.0%) felt normal sexual desire, and 153 (73.6%) reported penile erections or erections in most cases whenever sex, and 52.9% (110) ejaculated most of the time. HIV prevalence was 1.0% (4/400). Compared with the over 65-year-old group, the proportion of having sex with spouse/stable partners (89.5%, 179/200), proportion of no condom use with their spouse/stable sexual partners during the most recent sex (93.8%, 168/179), proportion of having casual sex (11.0%, 23/209) and commercial sex (3.8%, 8/209) were all higher among 50-64 age group. In comparison to those aged over 65 years old, average monthly income>3 000, and use of sex helper, aged 50-64 ( OR=2.70, 95% CI: 1.22-5.95), average monthly income ≤1 000 yuan ( OR=2.79, 95% CI: 1.25-6.21), and no use of sex helper ( OR=3.78) (95% CI: 1.65-8.67) were related factors of HIV risky sexual behavior last time. Conclusion:Elderly men in the minority prefecture had low HIV awareness. Compared with those≥65 years old, the 50-64 age group had more active sexual behaviors and higher sexual needs. Those from 50-64 age group, with lower economic level and good sexual ability were more likely to have HIV risky sexual behaviors.