OBJECTIVE: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. METHODS: A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005). RESULTS: The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%. CONCLUSION The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans ; Thalassemia/diagnosis* ; Software ; Female ; Genetic Testing/methods* ; Male ; Mutation ; Adult ; Genotype ; ROC Curve ; Risk Assessment

Professor Lau Wanyee, a member of the Chinese Academy of Sciences and a pro-fessor at the Chinese University of Hong Kong, actively advocates conducting clinical researches through "planting fruit trees" and "growing orchards", aiming to cultivate a team of dual-skilled talents in clinical practice and research, effectively improve the scientific and technological level of clinical medicine in China, make voice heard in the international medical science field, and better serve human health. He organized a clinical research training course in scholars′ forum for Hepatobiliary Young Expert Working Group of Chinese College of Surgeons. Throughout three sessions of the training course, a distinct theme was focused on how to enhance the level of clinical research in China and make voice heard by the international scholars. A group of multi-dimensional experts were gathered, including experts from surgery, methodology, and management, as well as both renowned experts and young talents. A lively teaching model was adopted, combining guided presentations with interactive discussion and debate sessions. A clean and upright academic spirit was strongly advocated, in which international rules were adopted to conduct in-depth analysis and sharp criticism of seven proposed clinical research projects and four published papers with high international influence to find quarrel in a straw. This clinical research training course provides a new model of guidance for young physicians in conducting clinical research. As a result, all attendees felt deeply educated and benefited greatly from the training session. This training activity not only laid a solid foundation for the development of scientization, standardization, and internationali-zation of clinical research in digestive surgery in China, but also demonstrated a correct path for cultivating a group of young and middle-aged clinical medical scientists with scientific spirit.

Objective:To analyze the implementation effect of single disease payment policy for day surgery (hereinafter referred to as the policy), for references for the reform of medical insurance payment.Methods:By collecting the information of inpatients from 2017 to 2019 in a tertiary hospital, the research group took patients with colorectal benign tumor and nodular goitre as the policy implementation group and the control group respectively. 2017-2018 was the pre implementation stage of the policy, and 2019 was the post implementation stage of the policy. The difference-in-differences (DID) model was used to analyze the changes in indicators such as length of stay and hospitalization expenses after policy implementation, under whether the policy is implemented or not, as well as before or after policy implementation.Results:A total of 2 419 patients were included, including 927 patients with nodular goiter in the control group and 1 492 patients with colorectal benign tumors in the policy implementation group (688 patients before the policy implementation and 804 patients after the policy implementation). The results of DID showed that the hospital days for patients with colorectal benign tumor decreased by 56.53%, the hospitalization expenses decreased by 26.51%, the out-of-pocket expenses decreased by 26.66%, the treatment expenses increased by 11.96%, the drug expenses decreased by 50.29% and the consumables expenses decreased by 20.23% after the implementation of the policy.Conclusions:The implementation of the policy could reduce length of stay, hospitalization expenses and out-of-pocket expenses, optimize the structure of hospitalization expenses, improve the efficiency of hospital diagnosis and treatment, and help the hospital realize its transformation from a size expansion to a quality and benefit expansion.

Objective:To investigate the clinical application value of plasma SEPT9 gene methylation combined with serum carcinoembryonic antigen (CEA) and carbohydrate antigen 724 (CA724) in the diagnosis of colorectal cancer.Methods:A total of 219 patients with colorectal diseases in Baoji Central Hospital and Yunnan Province New Kun Hua Hospital from May 2018 to October 2021 were selected, including 149 cases of colorectal cancer and 70 cases of colorectal polyp diagnosed by pathology. A total of 100 healthy people in the same period were selected as the healthy control group. The methylation of SEPT9 gene in plasma was measured by using real-time fluorescent polymerase chain reaction (PCR), and the levels of serum CEA and CA724 were measured by using electrochemiluminescence. The expressions of three indicators in each group were compared, and the effect of every single indicator and the combination of the three indicators on the diagnosis of colorectal cancer was analyzed by using receiver operating characteristic (ROC) curve.Results:The positive rate of SEPT9 gene methylation in colorectal cancer group (74.50%, 111/149) was higher than that in colorectal polyp group (22.86%, 16/70) and healthy control group (1.00%, 1/100), and the difference was statistically significant ( P < 0.001). The positive rate of CEA in colorectal cancer group (46.98%, 70/149) was higher than that in colorectal polyp group (40.00%, 28/70) and the healthy control group (3.00%, 3/100) and the difference was statistically significant ( P < 0.001). The positive rate of CA724 in colorectal cancer group (38.93%, 58/149) was higher than that in colorectal polyp group (32.86%, 23/70) and the healthy control group (2.00%, 2/100), and the difference was statistically significant ( P < 0.001). The area under the curve (AUC) of ROC of SEPT9 gene methylation, CEA and CA724 in the single diagnosis of colorectal cancer was 0.823 (95% CI 0.753-0.891), 0.788 (95% CI 0.725-0.852) and 0.689 (95% CI 0.624-0.754), respectively. The optimal cut-off Ct value of SEPT9 gene methylation in the diagnosis of colorectal cancer was 36.5, the sensitivity was 90.30%, and the positive predictive value was 84.68%, which were higher than those of CEA and CA724. The optimal cut-off value of CEA in the diagnosis of colorectal cancer was 8.80 ng/ml, and the specificity (77.50%) and negative predictive value (78.48%) were higher than those of SEPT9 gene methylation and CA724. The sensitivity (97.66%), positive predictive value (93.98%), negative predictive value (81.25%) and AUC (0.846, 95% CI 0.749-0.944) of the combined detection of the three indexes taking the optimal cut-off value of every single indicator were higher than those of the single indicator. Conclusions:The combined detection of plasma SEPT9 gene methylation, CEA and CA724 in the diagnosis of colorectal cancer has high sensitivity and accuracy. The three combined detection can complement each other and improve the diagnostic efficiency, which is of high clinical value for the diagnosis of colorectal cancer.

Exploring the genetic basis of human infertility is currently under intensive investigation.However,only a handful of genes have been validated in animal models as disease-causing genes in infertile men.Thus,to better understand the genetic basis of human spermatogenesis and bridge the knowledge gap between humans and other animal species,we construct the FertilityOnline,a data-base integrating the literature-curated functional genes during spermatogenesis into an existing sper-matogenic database,SpermatogenesisOnline 1.0.Additional features,including the functional annotation and genetic variants of human genes,are also incorporated into FertilityOnline.By searching this database,users can browse the functional genes involved in spermatogenesis and instantly narrow down the number of candidates of genetic mutations underlying male infertility in a user-friendly web interface.Clinical application of this database was exampled by the identifi-cation of novel causative mutations in synaptonemal complex central element protein 1(SYCE1)and stromal antigen 3(STAG3)in azoospermic men.In conclusion,FertilityOnline is not only an integrated resource for spermatogenic genes but also a useful tool facilitating the exploration of the genetic basis of male infertility.

Objective:To evaluate the clinical efficacy and safety of combination of traditional Chinese and Western medicine in the treatment of coronavirus disease 2019 (COVID-19) by Meta analysis.Methods:The clinical randomized controlled trials (RCT) and cohort studies on the treatment of COVID-19 with combination of Chinese traditional and Western medicine published on CNKI, Wanfang database, VIP database and PubMed were searched by computer from January 2020 to June 2020. Patients in the simple Western medicine treatment group were treated with routine treatment of Western medicine, and the patients in integrated traditional Chinese and Western medicine treatment group were treated with traditional Chinese medicine on the basis of routine treatment of Western medicine. The main outcome was the total effective rate of treatment. The secondary outcome were the antipyretic rate, chest CT recovery rate, lymphocyte count (LYM), C-reactive protein (CRP) level and safety. The Cochrane manual and the Newcastle Ottawa Scale (NOS) were used to evaluate the quality of the literature; the RevMan5.3 software was used to analyze the articles that meets the quality standards, and a funnel chart was drawn to evaluate the total effective publication bias.Results:Thirteen articles were analyzed, including 1 039 COVID-19 patients, 559 in integrated traditional Chinese and Western medicine treatment group and 480 in simple Western medicine treatment group. The results of Meta-analysis showed that compared with the simple Western medicine treatment group, the combination of routine treatment of Western medicine and traditional Chinese medicine Qingfei Paidu decoction, Lianhua Qingwen granule, Shufeng jiedu capsule, Xuebijing injection or Reyanning mixture could significantly improve the total effective rate, antipyretic rate and chest CT recovery rate [total effective rate: odds ratio ( OR) = 2.95, 95% confidence interval (95% CI) was 2.10-4.14, P < 0.000 01; antipyretic rate: OR =3.01, 95% CI was 1.64-5.53, P = 0.000 4; chest CT recovery rate: OR = 2.53, 95% CI was 1.83-3.51, P = 0.000 1], increase LYM levels [mean difference ( MD) = 0.26, 95% CI was 0.02-0.50, P = 0.03], and reduce of CRP content ( MD = -17.68, 95% CI was -33.14 to -2.22, P = 0.02). Based on the funnel chart analysis of 12 articles with total efficiency, the result showed that the funnel chart distribution was not completely symmetrical, indicating that there might be publication bias. Conclusions:On the basis of routine treatment with Western medicine, combined with traditional Chinese medicine can significantly improve the total effective rate of COVID-19 and improve the laboratory results and clinical symptoms of patients. Compared with the routine treatment of Western medicine alone, the combination of traditional Chinese and Western medicine has better clinical efficacy and safety.

【Objective】 To investigate the feasibility of using surface electromyography （SEMG） for the detection of abnormal muscle response （AMR） in patients with hemifacial spasm （HFS）. 【Methods】 We retrospectively reviewed the clinical data of HFS patients who underwent microvascular decompression （MVD） in our hospital between June 2019 and December 2020. Patients who received both surface electrode （preoperative） and needle electrode （intraoperative） detection of AMR were included. SEMG recorded from two stimulation-recording sites， namely， zygomatic-mentalis and mandibular marginal-orbicularis oculi， was selected for analyzing the characteristics of AMR. The positive rates of AMR detected by these two kinds of electrodes were comprehensively compared. 【Results】 Totally 77 patients were included in this study. When detected with surface electrodes， the positive rate， latency and amplitude of AMR recorded at zygomatic-mentalis oculi were 90.9% （70/77）， （10.87±1.86） ms and （202.8±47.4） μV， and at mandibular marginal-orbicularis oculi were 92.2% （71/77）， （10.41±1.83） ms and （211.1±54.1） μV， respectively. AMR was detected in 74 patients （96.1%） with surface electrodes. There was no significant difference in positive rate， latency and amplitude of AMR between these two stimulation-recording methods. When detected with needle electrodes， the positive rate of AMR recorded at zygomatic-mentalis oculi was 98.7% （76/77）， which was significantly higher than the rate 89.6% （69/77） recorded at mandibular marginal-orbicularis oculi （P=0.016）. The latency and amplitude of AMR recorded at zygomatic-mentalis were （10.63±1.39） ms and （83.5±27.2） μV， and at mandibular marginal-orbicularis oculi were （10.31±1.18） ms and （58.6±21.4） μV. There was no significant difference in latency between the two stimulation-recording methods， but the amplitude recorded at mandibular marginal-orbicularis oculi was significantly lower （P=0.041）. AMR was detected in 76 patients （98.7%） with needle electrodes. There was no significant difference in the detection rate of AMR between surface electrodes and needle electrodes （P=0.500）， the results were moderately consistent （Kappa=0.490， P<0.001）. 【Conclusion】 The detection efficiency of surface electrodes for AMR is similar to that of needle electrode. With its non-invasive characteristic， the surface electrode can be routinely used for electrophysiological evaluation of HFS.

Objective: To develop a brief version of Quality of Life of College Students Questionnaire(QOLCS-51) to measure the quality of college students conveniently in time. Methods: Qualitative research and two investigations were applied to shorten and verify the brief questionnaire, and SPSS 22.0 and Lisrel 9.20 were used to analyze the reliability and validity of 2 questionnaires. Results: Quality of Life of College Students Questionnaire-bref was developed by deleting 22 items through qualitative research and 6 items by the first investigation. 952 college students from Jiangsu, Anhui and Shanxi Province were selected to participate in the second investigation, which consisted of five domains and 23 items (QOLCS-23). All 23 items were accepted by analysis of difficulty(0.44-0.68), and all have passed the test of critical ratio(P<0.01), the general related index was 0.33-0.60(P<0.01). 78.3% items distinguished the students with/without dyssomnia. Reliability was tested by test-retest reliability coefficient(0.71-0.86), homogeneity reliability coefficient (Cronbach α=0.845) and exploratory factor analysis (6 factors, i.e. physics domain, three subdomains of psychology domain, behavior domain, social domain and environment domain). Validity was tested by correlations of five domains between QOLCS-51 and QOLCS23(greater than 0.8) and confirmatory factor analysis(χ2/df=12.17, RMSEA=0.05, SRMR=0.07, GFI=0.84, AGFI=0.83, CFI=0.92, IFI=0.92, NFI=0.85, NNFI=0.91). Conclusion QOLCS51 consists of 23 items of QOLCS23, after deleting 28 items, to assess 5 dimensions of physiology, psychology, behavior, environment and social support with good construction validity and criterion-related validity, and good homogeneity reliability and re-test reliability.

Excessive salt intake is an important risk factor of diseases such as hypertension, stroke, and stomach cancer. China is one of countries with high salt intake in the world. Recently, the intake of sodium from pre-packaged foods in China has been increasing, and the situation of salt control is rigorous. Based on the summary of the domestic and international experience of salt reduction, the "Guidelines for Salt Reduction in Chinese Food Industry" presents the basic principles, targets at different stages within various categories, technical routes, steps and measures, and social environment co-construction of salt reduction in Chinese food industry. This article focuses on the background, basis, process, key content and promotion of the guideline. The implementation of this guideline will contribute to the vigorous advancement of salt reduction action in Chinese food industry.