Objectives:QT interval prolongation during treadmill test exercise is one of the clinical feature of patients with long QT syndrome(LQTS).This study aimed to explore the feasibility and efficacy of treadmill exercise testing as an auxiliary diagnosis tool for LQTS in clinical practice.Methods:We enrolled normal healthy individuals,common cardiovascular disease patients,and clinically diagnosed or suspected LQTS patients,who underwent treadmill exercise test from July 2023 to July 2024 at Fuwai Hospital.A special treadmill exercise testing procedure was designed to record the QT interval correction(QTc)intervals of the twelve lead electrocardiogram at 6 time points when performing the exercise tablet,including supine,sitting,standing,peak exercise,and recovery at 1-minute and 4-minute.The differences in QTc intervals among healthy group,cardiovascular diseases group,and suspected LQTS group were compared.Results:A total of 80 cases were consecutively enrolled,including 37 normal healthy controls,25 patients with common cardiovascular disease,and 18 patients with suspected LQTS.The QTc intervals at 6 points did not differ significantly between normal healthy controls and patients with cardiovascular disease,with QTc intervals less than 480 ms at all measurement.For patients with suspected LQTS,67.7%(12/18)of these patients presented a QTc interval≥480 ms at the 4-minute during recovery period.Among them,5 cases were confirmed to have pathogenic gene mutations of LQTS by genetic testing(including 1 case with a lying electrocardiogram QTc interval of 489 ms diagnosed with LQTS 1 type and a QTc interval of 636 ms during the 4-minute recovery period after exercise);5 clinically diagnosed patients(negative or undetectable in genetic testing)with a Schwartz score≥4,and the remaining 2 patients had a Schwartz score of 3.The remaining 5/18 patients,include 2 patients with clinical Schwartz scores≥4 and 3 patients with clinical suspicion(Schwartz scores 2-3)had a 4 min QTc interval of 445-480 ms during exercise recovery.Another patient with clinical suspicion(Schwartz score 3)had a 4 min QTc interval of<445 ms during exercise recovery and a negative genetic test at a later stage.Receiver operating characteristic curve analysis showed a sensitivity of 83.3%and specificity of 98.4%for QTc interval≥482 ms during the 4-minute recovery period of exercise as the LQTS diagnostic cutoff.Conclusions:This study results suggest that this special treadmill exercise testing protocol is effective in identifying LQTS and has strong feasibility and generalizability for clinical practice.

Objective:To explore the effect of CO2 fractional laser combined with glucocorticoid(GC)on T follicular helper cell(Tfh)and B cell subsets in patients with advanced vitiligo(VL).Methods:Patients with advanced VL(128 cases)who were treated in Affiliated Hospital of Hebei University of Engineering from August 2019 to March 2022 were selected as research objects,and divided into group A(64 cases,CO2 fractional laser combined with GC)and group B(64 cases,CO2 fractional laser)according to different treatment methods,clinical efficacy and safety of the two groups were compared.Another healthy subjects(64 cases)were selected as control group.Collected clinical data of the three groups of subjects for comparative analysis.Randomized walking model was used to evaluate the effect of CO2 fractional laser combined with GC on immune function and inflammatory response in patients with advanced VL.Results:Compared with group B,group A had a higher clinical total effective rate(P<0.05)and a lower probability of adverse reactions(P<0.05).After treatment,compared with control group,proportion of Tfh2 and Tfh17 in group A had no significant difference(P>0.05),while proportion of Tfh2 and Tfh17 in group B still had significant difference(P<0.05);compared with group B,proportion of Tfh2 in group A after treatment was higher(P<0.05),while proportion of Tfh17 type was lower(P<0.05).After treat-ment,compared with control group,proportion of memory transformed B cell in group B was still significantly different(P<0.05).After treatment,compared with control group,levels of IgA,IgE and IgM in group B were still significantly different(P<0.05);compared with group B,level of IgM in group A was higher after treatment(P<0.05).After treatment,compared with control group,levels of IL-21 and IL-1β in group B were still significantly different(P<0.05);compared with group B,level of IL-10 in group A after treatment was higher(P<0.05),while levels of IL-21 and IL-1β were lower(P<0.05).Evaluation results of random walking model showed that the improvement of immune function and inflammatory reaction in group A was better than that in group B.Conclusion:CO2 fractional laser combined with GC can improve the immune function and inflammatory reaction of patients with advanced VL better after treatment,and the probability of adverse reactions is lower.

Objectives:QT interval prolongation during treadmill test exercise is one of the clinical feature of patients with long QT syndrome(LQTS).This study aimed to explore the feasibility and efficacy of treadmill exercise testing as an auxiliary diagnosis tool for LQTS in clinical practice.Methods:We enrolled normal healthy individuals,common cardiovascular disease patients,and clinically diagnosed or suspected LQTS patients,who underwent treadmill exercise test from July 2023 to July 2024 at Fuwai Hospital.A special treadmill exercise testing procedure was designed to record the QT interval correction(QTc)intervals of the twelve lead electrocardiogram at 6 time points when performing the exercise tablet,including supine,sitting,standing,peak exercise,and recovery at 1-minute and 4-minute.The differences in QTc intervals among healthy group,cardiovascular diseases group,and suspected LQTS group were compared.Results:A total of 80 cases were consecutively enrolled,including 37 normal healthy controls,25 patients with common cardiovascular disease,and 18 patients with suspected LQTS.The QTc intervals at 6 points did not differ significantly between normal healthy controls and patients with cardiovascular disease,with QTc intervals less than 480 ms at all measurement.For patients with suspected LQTS,67.7%(12/18)of these patients presented a QTc interval≥480 ms at the 4-minute during recovery period.Among them,5 cases were confirmed to have pathogenic gene mutations of LQTS by genetic testing(including 1 case with a lying electrocardiogram QTc interval of 489 ms diagnosed with LQTS 1 type and a QTc interval of 636 ms during the 4-minute recovery period after exercise);5 clinically diagnosed patients(negative or undetectable in genetic testing)with a Schwartz score≥4,and the remaining 2 patients had a Schwartz score of 3.The remaining 5/18 patients,include 2 patients with clinical Schwartz scores≥4 and 3 patients with clinical suspicion(Schwartz scores 2-3)had a 4 min QTc interval of 445-480 ms during exercise recovery.Another patient with clinical suspicion(Schwartz score 3)had a 4 min QTc interval of<445 ms during exercise recovery and a negative genetic test at a later stage.Receiver operating characteristic curve analysis showed a sensitivity of 83.3%and specificity of 98.4%for QTc interval≥482 ms during the 4-minute recovery period of exercise as the LQTS diagnostic cutoff.Conclusions:This study results suggest that this special treadmill exercise testing protocol is effective in identifying LQTS and has strong feasibility and generalizability for clinical practice.

Objective:To explore the effect of CO2 fractional laser combined with glucocorticoid(GC)on T follicular helper cell(Tfh)and B cell subsets in patients with advanced vitiligo(VL).Methods:Patients with advanced VL(128 cases)who were treated in Affiliated Hospital of Hebei University of Engineering from August 2019 to March 2022 were selected as research objects,and divided into group A(64 cases,CO2 fractional laser combined with GC)and group B(64 cases,CO2 fractional laser)according to different treatment methods,clinical efficacy and safety of the two groups were compared.Another healthy subjects(64 cases)were selected as control group.Collected clinical data of the three groups of subjects for comparative analysis.Randomized walking model was used to evaluate the effect of CO2 fractional laser combined with GC on immune function and inflammatory response in patients with advanced VL.Results:Compared with group B,group A had a higher clinical total effective rate(P<0.05)and a lower probability of adverse reactions(P<0.05).After treatment,compared with control group,proportion of Tfh2 and Tfh17 in group A had no significant difference(P>0.05),while proportion of Tfh2 and Tfh17 in group B still had significant difference(P<0.05);compared with group B,proportion of Tfh2 in group A after treatment was higher(P<0.05),while proportion of Tfh17 type was lower(P<0.05).After treat-ment,compared with control group,proportion of memory transformed B cell in group B was still significantly different(P<0.05).After treatment,compared with control group,levels of IgA,IgE and IgM in group B were still significantly different(P<0.05);compared with group B,level of IgM in group A was higher after treatment(P<0.05).After treatment,compared with control group,levels of IL-21 and IL-1β in group B were still significantly different(P<0.05);compared with group B,level of IL-10 in group A after treatment was higher(P<0.05),while levels of IL-21 and IL-1β were lower(P<0.05).Evaluation results of random walking model showed that the improvement of immune function and inflammatory reaction in group A was better than that in group B.Conclusion:CO2 fractional laser combined with GC can improve the immune function and inflammatory reaction of patients with advanced VL better after treatment,and the probability of adverse reactions is lower.

Objective: To investigate the awareness of air pollution protection knowledge and its influencing factors among primary school students in Shennongjia Forest District, Hubei Province, so as to provide insights into targeting implementation of health education on air pollution protection knowledge. Methods: Students in Grade 3 to 5 in Shennongjia Shiyan primary school were enrolled by stratified cluster sampling method, and students' demographic features and awareness of air pollution protection knowledge were investigated using the Investigation on the Effects of Air Pollution Health Protection of Pupils (Volume A). Factors affecting the awareness of air pollution protection knowledge among primary school students were identified using a multivariable logistic regression model. Results: A total of 897 questionnaires were allocated, and 877 valid questionnaires were recovered, with an effective rate of 97.77%. The respondents included 446 men (50.86%) and 431 women (49.14%), 301 third grade students (34.32%), 284 fourth grade students (32.38%), and 292 fifth grade students (33.30%), and had a mean age of (10.32±0.93) years. The overall awareness of air pollution protection was 55.76%, and the awareness rates of basic concepts, basic knowledge, and basic behaviors and skills were 42.99%, 53.48% and 57.24%, respectively. Multivariable logistic regression analysis identified age (OR=1.453, 95%CI: 1.053-2.005), living with parents (OR=2.638, 95%CI: 1.571-4.429), mother's educational level (below primary school, OR=0.270, 95%CI: 0.084-0.862; primary school, OR=0.169, 95%CI: 0.069-0.416; junior high school, OR=0.309, 95%CI: 0.138-0.691; high school, OR=0.352, 95%CI: 0.160-0.773) and average annual family income (50 000 to 100 000 Yuan, OR=1.629, 95%CI: 1.162-2.282; 100 000 to 150 000 Yuan, OR=1.802, 95%CI: 1.101-2.948; ≥150 000 Yuan, OR=1.939, 95%CI: 1.065-3.529) as factors affecting the awareness of air pollution protection knowledge among primary school students. Conclusion The awareness of air pollution protection knowledge is 55.76% among primary school students in Shennongjia Forest District, and is affected by age, mother's educational level, average annual family income and living with parents.

Objective:To investigate the application value of Th1/Th2 cytokines,interleukin-17(IL-17)and serum tumor markers in the diagnosis,prognosis and recurrence of breast cancer.Methods:A total of 200 patients with breast cancer admitted to Inner Mongolia Hospital of Peking University Cancer Hospital from December 2021 to December 2022 were selected,and they were divided into negative group(60 cases),weakly positive(80 cases)group and positive group(60 cases)according to immunohistochemistry indicators.In addition,another 60 persons who underwent physical examination were selected as healthy control group.The changes of the Th1/Th2,IL-17,CA125,CYFRA21-1,CA153 and CEA levels were observed,and the clinical value of the combined detection of the 6 indicators in predicting the prognosis and recurrence of breast cancer was investigated.Results:The results of comparative analysis indicated that the clinical pathological features related to recurrence,histological grading,tumor diameter and lymph node metastasis(x2=7.552,12.037,12.063,8.543,P＜0.05),respectively.Multivariate analysis showed that tumor recurrence,tissue grading,tumor diameter and lymph node metastasis were the important factors for the prognosis of patients with breast cancer(OR=3.096,3.050,3.425,3.031,P＜0.05).Compared with the single prediction of Th1/Th2,IL-17,CA125,CYFRA21-1,CA153 and CEA,the combined prediction of 6 indicators had higher clinical value for prognosis and recurrence of patients with breast cancer,which sensitivity,accuracy and specificity were respectively 96%,93.46%and 85%.Conclusion:The observation on the changes of the combined predictive levels of 6 items,which include Th1/Th2,IL-17,CA125,CYFRA21-1,CA153 and CEA of patients,indicates that the combined detection has high sensitivity and accuracy.This highly efficient and convenient detection method can provide references for improving the prognosis,reducing the recurrence and enhancing the accuracy of assessment.

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Teebi hypertelorism syndrome 1 (TBHS1). METHODS: A child with TBHS1 who was admitted to the Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine on July 13, 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 13-year-old male, had manifested delayed growth and development. WES results revealed that he has harbored a heterozygous c.1244A>G variant of the SPECC1L gene, which was verified to be de novo in origin. The variant has not been included in the HGMD and gnomAD databases. As predicted by online software including PolyPhen-2, SIFT, and Mutation Taster, the variant may affect the function of protein domain. And PyMOL software has predicted that the structural stability of SPECC1L protein (p.Gln415Arg) might be reduced. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PM6+PM1+PP4+PM2_Supporting+PP3). CONCLUSION The heterozygous c.1244A>G variant of the SPECC1L gene probably underlay the TBHS1 in this child. Above finding has expanded the genotypic and phenotypic spectrum of the SPECC1L gene and provided a basis for the clinical diagnosis of this child.
Adolescent ; Humans ; Male ; China ; Computational Biology ; Genomics ; Genotype ; Mutation

Objective:To explore the safety and efficacy of camrelizumab salvage therapy for extrahepatic recurrent hepatocellular carcinoma with PD-L1 negativity in transplanted liver tissue.Methods:From May 2020 to December 2020, retrospective analysis was performed for 3 cases of camrelizumab salvage therapy for extrahepatic recurrent hepatocellular carcinoma recipients with PD-L1 negative in transplanted liver tissue.Three recipients with extrahepatic recurrence progressed after first/second-line targeted drug therapy.Camrelizumab was given as salvage therapy after normal tissue of ransplanted liver was confirmed as negative for PD-L1 by immunohistochemistry.The safety and efficacy of treatment were observed by monitoring the changes in the levels of alanine aminotransferase, aspartate aminotransferase and bilirubin, the occurrence of complications and the outcome of treatment before and after dosing.Results:During a follow-up period of 1.5 to 15.5 months, no recipients showed acute rejection symptoms such as sharp elevations of transaminase and bilirubin.Headache ( n=1), vomiting ( n=1) and fatigue & hypertension ( n=1) became relieved after treatment.As of February 28, 2022, there were one survivor and two deaths.The fatal causes were tumor progression ( n=1) and thoracic aortic rupture due to esophageal perforation ( n=1). The survival time of recipients was (11-15.5) months and the progression-free survival time (4-6) months. Conclusions:For extrahepatic recurrent hepatocellular carcinoma with PD-L1-negative liver transplantation in normal liver tissue, camrelizumab salvage therapy can control tumor progression to a certain extent and prolong the survival time of recipients.

Objective:To analyze the relationship between infection and transmission of HIV/AIDS, explore the characteristics of the HIV-1 transmission network, and provide evidence for formulating targeted prevention and control measures.Methods:The newly confirmed HIV/AIDS in Jiaxing from 2017 to 2018 were selected for the study. The sociodemographic and infection transmission-related information was gathered. The blood samples were collected and RNA was extracted, RT-PCR and nested PCR amplified the pol gene of HIV-1. The phylogenetic tree was constructed by Mega 6.0 software for subtype analysis. The genetic distance between strains was calculated, and the molecular transmission network was drawn by using Cytoscape 3.6.0 software. The results of the epidemiological study based on the molecular transmission network were analyzed. Results:There were fifteen HIV-1 gene subtypes in 517 cases of HIV/AIDS. The main subtypes were CRF01_AE (37.1%)、CRF07_BC (36.2%) and CRF08_BC (11.8%). Under the 1.0% gene distance threshold, 87 molecular clusters were established, and the total clustering rate was 45.8% (237/517). The cluster risk factors were 60-81 age group (compared with 14-24 age group, OR=2.690, 95% CI:1.058-6.844), married (compared with unmarried, OR=1.698, 95% CI:1.003-2.875), CRF07_BC subtype (compared with CRF01_AE, OR=2.203, 95% CI:1.426-3.404). The largest molecular cluster, CRF07_BC-1, consisted of 50 cases (including 21 cases confirmed in 2017 cases and 29 confirmed in 2018). Multivariate analysis showed that characteristics of unmarried (compared with married, OR=2.482, 95% CI:1.140-5.402), gays (compared with heterosexual, OR=3.163, 95% CI:1.543-6.483), cases with high-risk transmission (compared with other cases, OR=7.631, 95% CI:1.783-32.654), confirmed in Nanhu and Pinghu districts of Jiaxing (compared with other districts, OR=2.225, 95% CI:1.074-4.608) were risks for entering the largest molecular cluster. There were seven suspected high-risk transmission MSM in the largest molecular cluster. The first debut of homosexual behavior was from 2010 to 2018, and the median number of gay partners was 20 ( P 25, P 75：10, 100) within two years before being diagnosed. Six reported a recent history of looking for gay partners in an MSM dating place in Nanhu district. Conclusions:The HIV-1 subtypes of newly confirmed HIV/AIDS were diverse, mainly sporadic in Jiaxing from 2017 to 2018. There were geographical aggregation characteristics and suspected some high-risk transmission cases, suggesting that rapid transmission and targeted intensive intervention are needed.

Objective:To explore the risk factors of early enteral nutrition intolerance in extremely severe burn patients.Methods:A retrospective case-control study was performed. From January 2018 to December 2020, seventy-six adult patients with extremely severe burns who met the inclusion criteria were admitted to Hwa Mei Hospital of University of Chinese Academy of Sciences, including 55 males and 21 females, aged (45±11) years with burns of 62% (52%, 82%) total body surface area. Depending on the patient's tolerance to early enteral nutrition, they were divided into tolerance group (47 patients) and intolerance group (29 patients), and their clinical data were statistically analyzed, including age, sex, body mass index (BMI), underlying disease, total burn area, full-thickness burn area, abbreviated burn severity index (ABSI) score, implementation of mechanical ventilation on the day of admission, stable shock state, vomiting before feeding. The following data were recorded including the onset time, duration length, and frequency of enteral nutrition intolerance of patients in intolerance group, and the number of operations, the length of hospitalization, the occurrence of sepsis within 2 weeks after injury, the outcome, as well as the serum hypersensitive C-reactive protein (hs-CRP), albumin, fasting blood glucose, alanine aminotransferase (ALT), aspartate aminotransferase (AST), and γ-glutamyl transpeptidase (γ-GT) on post burn day (PBD) 1, 5, 9, and 13 of patients in the two groups. Data were statistically analyzed with independent sample t test, Mann-Whitney U test, and chi-square test to screen the related factors of early enteral nutrition intolerance of the patients. Binary univariate and multivariate logistic regression analysis were used to analyze the independent risk factors of early enteral nutrition intolerance of the patients. Results:There were no statistically significant differences in age, sex, BMI, and percentage of underlying disease of patients between the two groups ( P>0.05). The total burn area, full-thickness burn area, ABSI score, mechanical ventilation percentage on the day of admission, percentage of unstable shock period, percentage of vomiting before feeding of patients in intolerance group were significantly higher than those in tolerance group ( Z=-4.559, -3.378, -4.067, χ 2=18.375, 23.319, 8.339, P<0.01). In intolerance group, the onset time of intolerance was (9±4) d after injury, and the duration length was 4 (2, 6) d, with a total of 46 times occurred. Compared with tolerance group, the percentage of sepsis and mortality of patients in intolerance group were significantly higher within 2 weeks after injury ( χ 2=16.571, 12.665, P<0.01). The number of operation and length of hospitalization of patients in the two groups were similar ( P>0.05); however the length of hospitalization of patients in the intolerance group was significantly more than that in tolerance group after excluding the death cases ( Z=-2.266, P<0.05). On PBD 1, the level of fasting blood glucose and AST of patients in intolerance group were significantly higher than those in tolerance group ( t=3.070, Z=-3.070, P<0.01). On PBD 5, the levels of hs-CRP, albumin, fasting blood-glucose, ALT, AST, and γ-GT of patients in the two groups were similar ( P>0.05). On PBD 9, the level of hs-CRP of patients in intolerance group was significantly higher than that in tolerance group ( t=2.836, P<0.01), and the levels of ALT and γ-GT of patients in intolerance group were significantly lower than those in tolerance group ( Z=-3.932, -2.052, P<0.05 or P<0.01). On PBD 13, the level of hs-CRP of patients in intolerance group was significantly higher than that in tolerance group ( t=3.794, P<0.01), and the levels of fasting blood glucose, ALT, and γ-GT of patients in intolerance group were significantly lower than those in tolerance group ( t=-2.176, Z=-2.945, -2.250, P<0.05 or P<0.01). Binary univariate logistic regression analysis showed that total burn area, full-thickness burn area, ABSI score, implementation of mechanical ventilation on the day of admission, unstable shock period, vomiting before feeding, and fasting blood-glucose on PBD 1 of patients were related to early enteral nutrition intolerance (odds ratio=1.086, 1.052, 1.775, 9.167, 12.797, 10.125, 1.249, 95% confidence interval=1.045-1.129, 1.019-1.085, 1.320-2.387, 3.132-26.829, 4.199-39.000, 2.003-51.172, 1.066-1.464, P<0.01). Multivariate logistic regression analysis showed that the large total burn area, unstable shock period, vomiting before feeding, and high fasting blood-glucose on PBD 1 of patients were the independent risk factors of early enteral nutrition intolerance in patients (odds ratio=1.073, 6.390, 9.004, 1.246, 95% confidence interval=1.021-1.128, 1.527-26.734, 1.134-71.496, 1.007-1.540, P<0.05 or P<0.01). Conclusions:The percentage of early enteral nutrition intolerance is very high in extremely severe burn patients, which is closely related to poor prognosis. Large total burn area, vomiting before feeding, unstable shock phase, high fasting glucose on PBD 1 of patients are the independent risk factors for early enteral nutrition intolerance in extremely severe burn patients. The benefits and risks should be carefully evaluated before starting enteral nutrition in such patients, and early enteral nutrition should not be blindly pursued.