Objective:To summarize the therapeutic effect of deep brain stimulation (DBS) for dystonia.Methods:Detailed clinical information and peripheral blood of children with dystonia at Peking University First Hospital from April 2017 to July 2020 were collected.The motor scores of Burke-Fahn-Marsden Dystonia Rating Scale were recorded of the dystonia before and after the treatment of DBS.Whole-exome sequencing was performed on children with dystonia.Then the effect of DBS was evaluated.Results:A total of 32 cases of patients with dystonia treated with DBS were enrolled, including 16 males and 16 females.Twelve cases were treated with globus pallidus internus DBS, and 20 cases were treated with subthalamic nucleus DBS.Twenty cases (62.5%) with pathogenic gene mutations were detected.Pathogenic variants in PANK2 (9 cases), KMT2B(3 cases), GNAO1 (2 cases), GCDH (2 cases), PINK1(1 case), NDUFAF6(1 case), DYT27(1 case) and ADCY5(1 case) were found.The follow-up period was 1 month to 3 years and 8 months.Only 1 case had local infection due to improper home care.The postoperative improvement was 5.66%-95.92%. Conclusions:All patients have a certain degree of relief after DBS without obvious adverse reactions.DBS is an effective treatment for pediatric dystonia.

There are many problems existing in the basic teaching of traditional surgery, such as much more content, difficult operation, fewer learning hours, more passive acceptance while less active learning and so on. Flipped class based on the WeChat and team-based learning (TBL) is based on the on-line and off-line class. We can use WeChat group and subscription to issue relevant learning materials, learning tasks and test before class. Also, we can summarize and explain incisively by discussion after field operation in class, and answer and test in the way of WeChat discussion after class. Finally, the three-dimensional hybrid teaching will be condensed and sublimated by brand competition based on the basis of surgery, achieving knowledge transfer before class, knowledge internalization in class, knowledge consolida-tion after class and brand competition sublimation, in order to improve the teaching effect of surgical basis.

Objective:To analyze the association between serum uric acid to creatinine ratio (SUA/Cr) and metabolic syndrome among community residents in Chashan town, Dongguan city.Methods:Participants were from the prospective cohort study of chronic diseases in natural populations in South China conducted in Chashan town, Dongguan city from 2018 to 2019. A total of 11 334 participants with complete data were included by using convenient sampling method. Demographic characteristics, lifestyle and health status were collected through questionnaire and physical examination. The venous blood of the subjects was collected to detect the levels of serum uric acid, creatinine and blood lipid. All participants were divided into four groups (Q1-Q4) according to the quartile of SUA/Cr level. The relationship between SUA/Cr and metabolic syndrome and its components (abdominal obesity, high triglyceride, low level of high density lipoprotein cholesterol, hypertension and abnormal glucose metabolism) were analyzed by using logistic regression model.Results:The mean age of 11 334 participants was (49.52±10.02) years. Male participants accounted for 44.2% (5 015/11 334). The prevalence of metabolic syndrome was 31.2% (3 532/11 334), and the level of SUA/Cr was 5.17±1.53. The prevalence of metabolic syndrome in group Q1-Q4 was 22.3% (631/2 834), 26.5% (752/2 833), 34.9% (988/2 833) and 41.0% (1 161/2 834), respectively. After adjusting for relevant confounding factors, the result of logistic regression model showed that compared with group Q1, the risk of metabolic syndrome in group Q2-Q4 was significantly higher, with OR (95% CI) values about 1.41 (1.23-1.60), 2.19 (1.93-2.49) and 3.01 (2.65-3.42) respectively. The risk of each component of metabolic syndrome in group Q2-Q4 was higher ( P trend<0.001). The SUA/Cr level of participants with normal uric acid level was significantly positively correlated with metabolic syndrome. The risk of metabolic syndrome increased with the increase of SUA/Cr level, but there was the same trend without significant differences in patients with hyperuricemia ( P interaction=0.008). Conclusion:There is a positive correlation between SUA/Cr level and the risk of metabolic syndrome among community residents in Chashan town, Dongguan city.

Objective To evaluate the improvement in the quality of early postoperative recovery in patients undergoing cardiac valve surgery with remimazolam-based fast-track anesthesia,and to provide a reference for the clinical optimization of fast-track anesthesia and Enhanced Recovery After Surgery(ERAS)protocols.Methods We selected elective surgery patients undergoing median sternotomy for cardiac valve replacement and/or repair under general anesthesia with extracorporeal circulation.Based on routine anesthesia assessment and fast-track anesthesia suitability assessment,a total of 228 patients were strictly enrolled according to the inclusion and exclusion criteria and randomly divided into two groups:the Remimazolam group(n=114)and the Propofol group(n=114).Patients in the Remimazolam group were induced and maintained with remimazolam for anesthesia,while patients in the control group were administered propofol.We recorded the general information and surgical data of the patients;the QoR-15 scores before surgery(1 day preoperatively),1 day postoperatively,3 days postoperatively,and 1 day before discharge;as well as hemodynamic parameters at key time points after admission,the incidence of hypotension and bradycardia after anesthesia,the duration of surgery,anesthesia duration,postoperative mechanical ventilation time,ICU stay,postoperative hospital stay,and the incidence of perioperative cardiovascular adverse events and the incidence of early postoperative complications.Results There was no statistically significant difference in general data and QoR-15 scores between the two groups 1 day before surgery(P>0.05).The QoR-15 score of the Remima-zolam group 1 day before discharge was higher than that of the Propofol group,with a statistically significant differ-ence(P<0.05),but the difference was less than the minimum clinically important difference,which is less than 8,indicating no significant clinical benefit.One minute after intubation and one minute after skin incision,the heart rate in the Propofol group slowed down and the Mean Arterial Pressure(MAP)significantly decreased,with a statis-tically significant difference between the groups(P<0.05);there was no statistically significant difference in heart rate and MAP at other times.The incidence of intraoperative hypotension and bradycardia was lower in the Remima-zolam group than in the Propofol group,with a statistically significant difference(P<0.05).The duration of postop-erative mechanical ventilation,ICU stay,postoperative hospital stay,and the rate of re-intubation were all shorter in the Remimazolam group than in the Propofol group,and the success rate of fast-track anesthesia was higher in the Remimazolam group,with a statistically significant difference(P<0.05).There was no statistically significant difference in the incidence of perioperative complications between the two groups.Conclusions Compared with the commonly used intravenous anesthetic propofol,the remimazolam-based fast-track anesthesia regimen did not signifi-cantly improve the postoperative recovery quality scores in patients undergoing cardiac valve surgery.However,remimazolam had advantages in maintaining hemodynamic stability,increasing the success rate of fast-track anesthe-sia,shortening postoperative ICU stay and hospital stay,and is a viable intravenous anesthetic option for cardiac surgery patients.

Objective:To analyze the association between serum uric acid to creatinine ratio (SUA/Cr) and metabolic syndrome among community residents in Chashan town, Dongguan city.Methods:Participants were from the prospective cohort study of chronic diseases in natural populations in South China conducted in Chashan town, Dongguan city from 2018 to 2019. A total of 11 334 participants with complete data were included by using convenient sampling method. Demographic characteristics, lifestyle and health status were collected through questionnaire and physical examination. The venous blood of the subjects was collected to detect the levels of serum uric acid, creatinine and blood lipid. All participants were divided into four groups (Q1-Q4) according to the quartile of SUA/Cr level. The relationship between SUA/Cr and metabolic syndrome and its components (abdominal obesity, high triglyceride, low level of high density lipoprotein cholesterol, hypertension and abnormal glucose metabolism) were analyzed by using logistic regression model.Results:The mean age of 11 334 participants was (49.52±10.02) years. Male participants accounted for 44.2% (5 015/11 334). The prevalence of metabolic syndrome was 31.2% (3 532/11 334), and the level of SUA/Cr was 5.17±1.53. The prevalence of metabolic syndrome in group Q1-Q4 was 22.3% (631/2 834), 26.5% (752/2 833), 34.9% (988/2 833) and 41.0% (1 161/2 834), respectively. After adjusting for relevant confounding factors, the result of logistic regression model showed that compared with group Q1, the risk of metabolic syndrome in group Q2-Q4 was significantly higher, with OR (95% CI) values about 1.41 (1.23-1.60), 2.19 (1.93-2.49) and 3.01 (2.65-3.42) respectively. The risk of each component of metabolic syndrome in group Q2-Q4 was higher ( P trend<0.001). The SUA/Cr level of participants with normal uric acid level was significantly positively correlated with metabolic syndrome. The risk of metabolic syndrome increased with the increase of SUA/Cr level, but there was the same trend without significant differences in patients with hyperuricemia ( P interaction=0.008). Conclusion:There is a positive correlation between SUA/Cr level and the risk of metabolic syndrome among community residents in Chashan town, Dongguan city.

Objective:To explore the relationship of sleep quality and sleep duration with hypertension among adults aged 30-79 years old in Guangzhou.Methods:According to multi-stage stratified cluster sampling, 12 747 residents aged 30-79 years old were sampled and surveyed in Guangzhou from January 2018 to March 2019. Data on general demographic characteristics, sleep quality, sleep duration and hypertension were collected through questionnaire survey, the Pittsburgh sleep quality index (PSQI) and physical examination. Multivariate logistic regression models were used to analyze the putative association between sleep quality, sleep duration and hypertension. Restrictive cubic spline curve was used to draw the dose-response relationship curve between sleep quality, sleep time and hypertension.Results:The mean age of the subjects was (52.68±12.17) years, the prevalence of hypertension was 36.6% (4 664/12 747), the average score of PSQI was (4.70±2.88), and the average sleep time was (7.00±1.32) hours. The prevalence of hypertension was positively associated with the PSQI score. Compared to the subjects with a score less than 3, OR (95% CI) of hypertension with a PSQI score of 3-5, 5-8, ≥9 were 1.14 (1.02-1.27), 1.17 (1.03-1.34), 1.41 (1.21-1.64), respectively. The relationship between sleep duration and hypertension appeared U-shaped. Compared with 6 to 8 hours sleep duration, both sleep duration<6 hours with OR(95% CI) of 1.27(1.12-1.43) or >8 hours with OR(95% CI) of 1.20(1.05-1.38) was associated with hypertension. Conclusion:Both poor sleep quality, longer or shorter sleep duration were responsible for increased risk of cognitive impairment in older Chinese.

Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease-related and healthy individuals. Here, we present MosaicBase, a comprehensive database that includes 6698 mosaic variants related to 266 noncancer diseases and 27,991 mosaic variants identified in 422 healthy individuals. Genomic and phenotypic information of each variant was manually extracted and curated from 383 publications. MosaicBase supports the query of variants with Online Mendelian Inheritance in Man (OMIM) entries, genomic coordinates, gene symbols, or Entrez IDs. We also provide an integrated genome browser for users to easily access mosaic variants and their related annotations for any genomic region. By analyzing the variants collected in MosaicBase, we find that mosaic variants that directlycontribute to disease phenotype show features distinct from those of variants in individuals with mild or no phenotypes, in terms of their genomic distribution, mutation signatures, and fraction of mutant cells. MosaicBase will not only assist clinicians in genetic counseling and diagnosis but also provide a useful resource to understand the genomic baseline of postzygotic mutations in the general human population. MosaicBase is publicly available at http://mosaicbase.com/ or http://49.4.21.8:8000.

Objective:To explore the relationship of sleep quality and sleep duration with hypertension among adults aged 30-79 years old in Guangzhou.Methods:According to multi-stage stratified cluster sampling, 12 747 residents aged 30-79 years old were sampled and surveyed in Guangzhou from January 2018 to March 2019. Data on general demographic characteristics, sleep quality, sleep duration and hypertension were collected through questionnaire survey, the Pittsburgh sleep quality index (PSQI) and physical examination. Multivariate logistic regression models were used to analyze the putative association between sleep quality, sleep duration and hypertension. Restrictive cubic spline curve was used to draw the dose-response relationship curve between sleep quality, sleep time and hypertension.Results:The mean age of the subjects was (52.68±12.17) years, the prevalence of hypertension was 36.6% (4 664/12 747), the average score of PSQI was (4.70±2.88), and the average sleep time was (7.00±1.32) hours. The prevalence of hypertension was positively associated with the PSQI score. Compared to the subjects with a score less than 3, OR (95% CI) of hypertension with a PSQI score of 3-5, 5-8, ≥9 were 1.14 (1.02-1.27), 1.17 (1.03-1.34), 1.41 (1.21-1.64), respectively. The relationship between sleep duration and hypertension appeared U-shaped. Compared with 6 to 8 hours sleep duration, both sleep duration<6 hours with OR(95% CI) of 1.27(1.12-1.43) or >8 hours with OR(95% CI) of 1.20(1.05-1.38) was associated with hypertension. Conclusion:Both poor sleep quality, longer or shorter sleep duration were responsible for increased risk of cognitive impairment in older Chinese.

The advancement of computers and data explosion have ushered in the third wave of artificial intelligence(AI). AI is an interdisciplinary field that encompasses new ideas, new theories, and new technologies, etc. AI has brought convenience to ophthalmology application and promoted its intelligent, precise, and minimally invasive development. At present, AI has been widely applied in various fields of ophthalmology, especially in oculoplastic surgery. AI has made rapid progress in image detection, facial recognition, etc., and its performance and accuracy have even surpassed humans in some aspects. This article reviews the relevant research and applications of AI in oculoplastic surgery, including ptosis, single eyelid, pouch, eyelid mass, and exophthalmos, and discusses the challenges and opportunities faced by AI in oculoplastic surgery, and provides prospects for its future development, aiming to provide new ideas for the development of AI in oculoplastic surgery.

Osteoporotic thoracolumbar fracture in the elderly will seriously reduce their quality of life and life expectancy. For osteoporotic thoracolumbar fracture in the elderly, spinal reconstruction is necessary, which should comprehensively consider factors such as the physical condition, fracture type, clinical characteristics and osteoporosis degree. While there lacks relevant clinical norms or guidelines on selection of spinal reconstruction strategies. In order to standardize the concept of spinal reconstruction for osteoporotic thoracolumbar fracture in the elderly, based on the principles of scientificity, practicality and progressiveness, the authors formulated the Clinical guideline for spinal reconstruction of osteoporotic thoracolumbar fracture in elderly patients ( version 2022), in which suggestions based on evidence of evidence-based medicine were put forward upon 10 important issues related to the fracture classification, non-operative treatment strategies and surgical treatment strategies in spinal reconstruction after osteoporosis thoracolumbar fracture in the elderly, hoping to provide a reference for clinical treatment.