OBJECTIVES: To evaluate the application value of genetic newborn screening (gNBS) in the Yunnan region. METHODS: A prospective study was conducted with a random selection of 3 001 newborns born in the Yunnan region from February to December 2021. Traditional newborn screening (tNBS) was used to test biochemical indicators, and targeted next-generation sequencing was employed to screen 159 genes related to 156 diseases. Positive-screened newborns underwent validation and confirmation tests, and confirmed cases received standardized treatment and long-term follow-up. RESULTS: Among the 3 001 newborns, 166 (5.53%) were initially positive for genetic screening, and 1 435 (47.82%) were genetic carriers. The top ten genes with the highest variation frequency were GJB2 (21.29%), DUOX2 (7.27%), HBA (6.14%), GALC (3.63%), SLC12A3 (3.33%), HBB (3.03%), G6PD (2.94%), SLC25A13 (2.90%), PAH (2.73%), and UNC13D (2.68%). Among the initially positive newborns from tNBS and gNBS, 33 (1.10%) and 47 (1.57%) cases were confirmed, respectively. A total of 48 (1.60%) cases were confirmed using gNBS+tNBS. The receiver operating characteristic curve analysis demonstrated that the areas under the curve for tNBS, gNBS, and gNBS+tNBS in diagnosing diseases were 0.866, 0.982, and 0.968, respectively (P<0.05). DeLong's test showed that the area under the curve for gNBS and gNBS+tNBS was higher than that for tNBS (P<0.05). CONCLUSIONS gNBS can expand the range of disease detection, and its combined use with tNBS can significantly shorten diagnosis time, enabling early intervention and treatment.
Humans ; Infant, Newborn ; Neonatal Screening ; Genetic Testing ; Female ; Male ; Follow-Up Studies ; Prospective Studies ; China

Objective To investigate the diagnostic value of 4 novel inflammatory markers related to routine blood tests,namely neutrophil-to-lymphocyte ratio(NLR),red blood cell distribution width(RDW),hemoglobin-to-RDW ratio(HRR)and systemic immune-inflammation index(SII),in elderly patients with chronic cardiovascular disease(CVD)complicated with frailty.Methods Retrospectively analyze 110 patients with chronic stable CVD who were hospitalized in the cadre ward of cardiovascular medicine at the Air Force Characteristic Medical Center from January 2022 to June 2023.According to the assessment results of the Fried scale,they were divided into three groups:non-frailty group(Fried score=0,n=30),the pre-frailty group(Fried score 1 or 2,n=40)and frailty group(Fried score≥3,n=40).The differences in general information,the impairment rate of daily living activities,miniature nutritional assessment-short form(MNA-SF)scores,mini-mental state examination(MMSE)scores,and the indicators such as NLR,RDW,HRR,and SII among the three groups were compared.Spearman rank correlation was used to analyze the correlation between NLR,RDW,HRR,SII and frailty scores as well as each frailty indicator.Multivariate logistic regression analysis was performed to identify the independent risk factors for frailty in elderly patients with chronic CVD,and the receiver operating characteristic(ROC)curve was used to assess the clinical diagnostic value of NLR and HRR in elderly patients with chronic CVD complicated with frailty.Results Compared with non-frailty group and pre-frailty group,patients in frailty group were older,with higher impaired rates of daily living activities,NLR,RDW,and SII,and lower MNA-SF scores,MMSE scores,and HRR,and differences were statistically significant(P<0.05).Spearman rank correlation analysis showed that the frailty score was positively correlated with NLR(rs=0.354,P<0.001),and RDW(rs=0.448,P<0.001),negatively correlated with HRR(rs=-0.232,P=0.024),and had no significant correlation with SII(rs=0.144,P=0.167).Further analysis of the correlation between the above novel inflammatory markers and the 5 components of frailty showed that NLR was positively correlated with fatigue(rs=0.228,P=0.017),slowed walking speed(rs=0.299,P<0.001),and low physical function(rs=0.319,P<0.001);RDW was positively correlated with decreased grip strength(rs=0.321,P<0.001),slowed walking speed(rs=0.422,P<0.001),and low physical function(rs=0.246,P=0.001);and HRR was negatively correlated with slowed walking speed(rs=-0.230,P=0.025),and low physical function(rs=-0.299,P=0.003).Multivariate logistic regression analysis showed that MNA-SF score(OR=0.577,95%CI 0.342-0.973)was an independent protective factor for pre-frailty in elderly patients with chronic CVD(P<0.05);NLR(OR=7.866,95%CI 1.101-56.185)was an independent risk factor for frailty,while HRR(OR=0.344,95%CI 0.120-0.983)and MNA-SF score(OR=0.292,95%CI 0.146-0.580)were independent protective factors for frailty in elderly CVD patients(P<0.05).The area under the ROC curve of NLR and HRR for diagnosing frailty in elderly patients with chronic CVD were 0.778 and 0.749,respectively.Conclusion NLR and HRR have high clinical diagnostic value for frailty in elderly patients with chronic CVD,and are expected to become effective inflammatory markers for screening elderly patients with chronic CVD complicated with frailty.

Objective The aim of the study was to investigate how morphine(Mor)effects mitochondrial dynamics change of H9c2 induced by hypoxia/reoxygenation(H/R).Methods Myocardial H9c2 cells were divided into blank group(without treatment),model group(H/R treatment),control group(5 μmol·L-1 Mor treatment)and experimental group(H/R+5 μmol·L-1 Mor treatment).The content of reactive oxygen species(ROS),mitochondrial membrane potential(MMP),and complex of Ⅰ and Ⅲ activity were detected using ROS,tetramethylrhodamine ethyl ester(TMRE),and mitochondrial complex of Ⅰ and Ⅲ activity detection kits,respectively.The morphology of mitochondria and lysosomes was observed by transmission electron microscope electron microscopy(TEM);Western blot was used to detect the expression of GTPase kinetic protein 1(Drp1),cytochrome c oxidase Ⅳ(COX Ⅳ)and transporters of the outer mitochondrial membrane(TOM20).Results The nuclear membrane was smooth and complete;the mitochondrial size was consistent;the crest arrangement was neat;vacuolization was reduced or even disappeared;the mitochondrial matrix electron density was increased;the number of autophagosomes was decreased in the experimental group.The contents of ROS in blank group,model group,control group and experimental group were 1.03±0.04,1.53±0.10,1.06±0.06 and 1.10±0.11;MMP were 1.00±0.15,0.80±0.16,1.06±0.19 and 1.00±0.19;the activities of complex of Ⅰ were 1.00±0.08,2.28±0.82,1.05±0.26 and 1.13±0.37;the activities of complex of Ⅲ were 1.00±0.09,2.13±0.38,0.83±0.22 and 0.96±0.11;the expression of Drp1 protein were 1.00±0.14,1.27±0.07,0.97±0.21 and 0.93±0.17;the expression of fission protein 1(Fis1)protein were 1.00±0.16,1.33±0.18,1.17±0.25 and 0.99±0.05;the expression of COX Ⅳ protein were 1.00±0.25,0.62±0.08,0.79±0.26 and 0.97±0.16;the expression of TOM20 protein were 1.00±0.13,0.67±0.15,0.75±0.13 and 0.89±0.05.The above indexes of model group were significantly different from those of blank group(P＜0.05,P＜0.01,P＜0.001,P＜0.000 1).The above indexes of experimental group were significantly different from those of model group(P＜0.05,P＜0.01,P＜0.001,P＜0.000 1).Conclusion Morphine may inhibit mitophagy and fission,and alleviated mitochondrial oxidative stress damage by decreasing the activity of respiratory chain complex of Ⅰ and Ⅲ,thus maintaining mitochondrial dynamic homeostasis and alleviating H/R-induced myocardial cell damage.

Objective To explore the effect of a multiple heat-preservation approach during the peri-operative period of hip arthroscopy on core body temperature,anesthesia recovery time and postopera-tive shivering.Methods Eighty patients who underwent arthroscopic acetabular labral repair between Jan-uary 2020 and June 2021 were selected and randomly divided into a control group and an observation group,each of 40.During the perioperative period,both groups received routine nursing,while the ob-servation group was additionally provided with a series of heat-preservation measures including raising the room temperature,liquid heating and warm blanket insulation.The core body temperature was mon-itored by an axillary probe.Moreover,the perioperative core body temperature,anesthesia recovery time,and incidence of postoperative shivering were compared between the two groups.Results There was no significant differences were found between the two groups in the preoperative core body temper-ature(P>0.05).However,the core body temperature of the observation group was significantly higher than the control group intraoperatively(36.2℃±0.2℃vs 35.9℃±0.2℃,P<0.001)and postoperatively(36.6℃±0.2℃vs 36.4℃±0.2℃,P<0.001),while the incidence of intraoperative hypothermia(<36.0℃)of the observation group was significantly lower than the latter(7.5%vs 70.0%,P<0.001).Meanwhile,the anesthesia recovery time[27.0(24.0,30.0)min vs 30.0(28.0,33.0)min,M(P25,P75),P<0.001]and incidence of postoperative shivering(7.5%vs 25.0%,P=0.034)in the observation group were significantly lower than the control group.Conclusion Adopting a multiple heat-preservation approach during the perioperative period of hip arthroscopy can help maintain the core body tempera-ture,shorten the anesthesia recovery time,and reduce the incidence of postoperative shivering.

Aim To investigate the effects of berberine(BBR)combined with 5'-n-ethylformamidoadenosine(NECA)on myocardial H9c2 and HL-1 cell damage induced by hypoxia/reoxygenation(H/R).Methods H9c2 and HL-1 cells were divided into the Control group,BBR group,NECA group,combined administra-tion group,H/R group,BBR+H/R group,NECA+H/R group,and combined administration+H/R group.CCK-8 was used to detect cell viability in each group.The TMRE kit was used to detect MMP.DCFH-DA was used to detect ROS content.The Mito SOX Red fluorescent probe was used to detect mitochondrial su-peroxide.The expressions of COX Ⅳ,Tom20,and Tim23 were detected by Western blot.The expression of COX Ⅳ and Tom20 genes was detected by qRT-PCR.Results In H9c2 cells,the cell viability and TMRE fluorescence intensity in the H/R group were significantly decreased compared with the Control group.The protein expressions of COX Ⅳ,Tom20,and Tim23,gene expressions of COX Ⅳ and Tom20,ROS,and mitochondrial superoxide contents were significant-ly increased.Compared with the H/R group,the cell viability of BBR and NECA were enhanced after ad-ministration alone.The contents of ROS and mitochon-drial superoxide were significantly decreased.In HL-1 cells,cell viability in the H/R group was significantly decreased compared with the Control group.The con-tents of ROS and mitochondrial superoxide were signifi-cantly increased.Compared with the H/R group,BBR and NECA alone and combined administration en-hanced cell viability.The contents of ROS and mito-chondrial superoxide were significantly decreased.Conclusion The administration of BBR and NECA a-lone or in combination can reduce the production of mi-tochondrial superoxide and cell ROS,thereby allevia-ting mitochondrial damage,alleviating oxidative stress damage,and ultimately reducing H/R-induced myocar-dial cell damage.

Objective:To establish a prediction model for symptomatic radiation pneumonitis (SRP) after radiotherapy for thoracic cancer based on a longitudinal cohort and dose interval variations.Methods:Clinical data of 587 patients who received thoracic radiotherapy in Department of Radiotherapy of Yunnan Cancer Hospital from July 2022 to June 2023 were retrospectively analyzed. The National Cancer Institute common terminology criteria for adverse events (CTCAE) version 5.0 was used to grade radiation pneumonitis, and clinical factors, traditional independent dosimetric characteristics and dose interval variation characteristics were collected. Features used to predict the occurrence of SRP were screened using genetic algorithms and analyzed the correlation between the selected features and SRP occurrence. Predictive models for SRP occurrence were established using the selected features and evaluated, and the optimal predictive model was visualized using a column chart.Results:The incidence of SRP was 35.94%. Five clinical factors, seven independent dosimetric features and six dose interval variation features were screened out by genetic algorithms to effectively predict the occurrence of SRP. The area under ROC curve (AUC) of clinical factors combined with traditional independent dosimetric factors and dose interval variation factors was 76%. The AUC of clinical factors combined with traditional independent dosimetric factors and that of clinical factors combined with dose interval variation factors was 69% and 67%, respectively. The addition of the characteristics of dose interval variation factors significantly improved the effectiveness of the prediction model.Conclusions:The supplement of the characteristics of dose interval variation factors can significantly improve the performance of the SRP prediction model for thoracic tumors after radiotherapy. The SRP prediction model based on dose interval variations can effectively predict the occurrence of SRP.

ObjectiveTo further study the pathogenic role of different types of Chlamydia trachomatis （CT） proteins in tubal factor infertility， evaluate the clinical detection value of Chlamydia trachomatis protein antibody in predicting tubal factor infertility. MethodsA total of 58 cases of tubal factor infertility （TFI）， 41 cases of fertile controls （FC） and 18 cases of infertile controls （IFC） were included. For serum detection， first， CT-IgG ELISA kit was used to detect the expression of CT-IgG in serum of three groups of people； then， 6 kinds of Chlamydia trachomatis proteins were expressed and purified in the early stage to establish the antibody test for these proteins， and ELISA detection method was used to detect the expression of their antibodies in the serum of TFI group， FC group and IFC group， respectively； and finally， the antibody OD value of the 6 kinds of Chlamydia trachomatis proteins in the three groups of subjects were statistically described， and CT-IgG was used as the reference standard to draw the receiver operating characteristic curve （ROC curve） of each CT antibody. The Youden Index determines the cutoff value for each antibody. Taking TFI as the reference class， two disordered multiple classification logistic regression models were established with the FC and IFC groups， respectively； and the reference class was used to explore the value of various antibodies and age in predicting TFI， FC and IFC of Chlamydia trachomatis. The back-off method was used to screen the variables. ResultsThe OD value of CT376 antibody in the TFI group was higher than that in the FC group （0.86 vs. 0.60， P=0.026）. The CT376 antibody OD value in the TFI group was higher than that in the IFC group （0.86 vs. 0.64， P=0.026）. The CT443 antibody OD value in the IFC group was higher than that in the TFI group （0.59 vs. 0.34， P=0.036） and higher than that in the FC group （0.59 vs. 0.30， P=0.02）. The multiple classification logistic regression analysis established between TFI and FC showed that CT-IgG ［P<0.001， OR=0.084， 95%CI （0.025， 0.284）］， CT376 antibody ［P=0.068， OR=0.359， 95%CI （0.120， 1.078）］. CT-IgG is an independent risk factor for tubal infertility， and CT376 antibody cannot be an independent risk factor for tubal infertility. The multiple classification logistic regression analysis established between TFI and IFC showed that among infertile patients， CT-IgG ［P<0.05， OR=0.194， 95%CI （0.046， 0.817）］， CT376 antibody ［P<0.05， OR=0.176， 95%CI （0.038， 0.818）］ and CT381 antibody ［P<0.05， OR=0.112， 95%CI （ 0.016， 0.796）］ were independent risk factors for tubal infertility. ConclusionThe expression of CT376 antibody in tubal infertility patients is higher than that in fertile and infertile controls， suggesting that CT-induced tubal factor infertility may be related to CT376. CT-IgG， and CT376 antibodies are meaningful in predicting CT-induced tubal factor infertility.

‍Traditionally， the progression from compensated liver cirrhosis to decompensated liver cirrhosis has been considered an irreversible point in the natural history of the disease； however， with the suppression of underlying etiology， cure， and disease regression， this view is challenged by an increasing number of new evidence， and the idea of “recompensation of liver cirrhosis” is gradually being accepted. In recent years， scholars in China and globally have been exploring the specific definition of recompensation of liver cirrhosis and the clinical features of patients. By summarizing the recent studies on recompensation of liver cirrhosis in China and globally， integrating existing views， and analyzing related research evidence， this article points out the main challenges in the field of recompensation at this stage， including the lack of in－depth clinical and basic research， the need to define recompensation in the context of NAFLD， and related ethical issues， in order to provide new directions for future research in this field.

Objective: To investigate fast food consumption behaviors among 4th and 5th grade primary school students in agricultural and pastoral areas in Qinghai Province, and to provide scientific basis for nutrition education and intervention measures for school age children in agricultural and pastoral areas. Methods: Using multi stage stratified cluster random sampling method, a total of 969 fourth and fifth grade students were selected from 10 primary schools in 4 counties and districts in 3 cities of Haidong City, Hainan Prefecture and Haixi Prefecture from Qinghai Province. Self administered questionnaires were used to investigate the fast food consumption behaviors of participants. Results: The proportions of senior primary school students in agricultural and pastoral areas of Qinghai Province who had consumed western fast food and traditioal fast food in the past week were 45.8% and 75.6%, respectively, with statistically significant differences ( χ 2=290.24, P <0.05). The times of traditional fast food consumption in the past week among boarding students were higher than that of non boarding students( Z =6.44,5.84, P <0.05). The main reasons for senior primary school students in agricultural and pastoral areas of Qinghai Province to choose to consume western fast food were that it was delicious (84.7%), nutritious (62.6%), clean and hygienic (57.4%), and a better environment (57.0%). The top 4 reasons for chousing Chinese fast food were yummy(83.8%),nutritious(82.8%),clean and healthy(67.4%),and good environment(53.5%). Among the surveyed primary school students, 64.7% believed that diet structure of Chinese fast food was reasonable, 43.0% believed that the nutritional value of Chinese fast food was high, and 39.4% believed that the energy content of western fast food was high. Conclusion Fast food consumption is a common dietary behavior of senior primary school students in agricultural and pastoral areas of Qinghai Province. Relevant departments should strengthen the nutrition education related to fast food, promote the dissemination of health knowledge, enable students to develop a good lifestyle and reduce fast food consumption.

Objective: To study the consumption of beverages among senior primary school students in rural and pastoral areas of Qinghai Province, China, in order to provide evidence for the development of nutrition and intervention strategies. Methods: A multi stage stratified cluster random sampling method was employed to select 969 primary school students in grades 4 and 5 from 10 schools in Hainan Autonomous Prefecture, Haixi Autonomous Prefecture and Haidong City. All participants completed a questionnaire survey on daily beverage consumption. The Chi square test was performed to compare differences in reported rates of beverage consumption among students in different groups. Results: The proportion of students who consumed beverages at home, school and elsewhere were 96.9%, 64.5% and 84.9%, respectively. The most popular beverages consumed at home were milk and yogurt ( 63.1 %), tea water (53.0%), and tea drinks (52.4%). The most popular beverages consumed at school were tea(29.8%), milk and yogurt (27.8%) and tea drinks (18.4%), while the most popular beverages consumed in other places were tea drinks ( 42.0 %), carbonated drinks (38.1%) and milk and yogurt (35.0%). The top five reasons for choosing a given beverage were taste delicious (81.2%), nutritious (57.6%),healthy and clean(52.6%),many students like to drink(39.6%),family members often drink(37.7%). Conclusion The consumption of beverages was popular among students, and sugared beverages represented a large proportion of the beverages consumed. Therefore, there is an urgent need to improve the food environment and provide effective nutrition education for students, so as to encourage the consumption of healthy beverages and cultivate healthy eating behaviors.