1.Clinical significance of the combined screening of thyroid stimulating hormone and candidate genes for congenital hypothy-roidism
Yahong LI ; Yun SUN ; Xin WANG ; Xianwei GUAN ; Peiying YANG ; Tao JIANG ; Zhengfeng XU
Chinese Journal of Clinical Laboratory Science 2025;43(7):488-494
Objective To investigate the clinical significance of the combined screening of thyroid stimulating hormone(TSH)and seven candidate pathogenic genes of congenital hypothyroidism(CH)for CH.Methods 16 645 newborns delivered in Nanjing Women and Children's Healthcare Hospital from July 2022 to July 2023 were performed the screening of TSH.Their DNA was extracted from dried blood spots and the chip capture second-generation sequencing technology was used to detect the candidate pathogenic genes,in-cluding dual oxidase 2(DUOX2),dual oxidase maturation factor 2(DUOXA2),prophet of pit-1(PROP1),thyroid-stimulating hor-mone receptor(TSHR),thyroid peroxidase(TPO),thyroglobulin(TG),and paired box 8(PAX8).The sensitivity,specificity,pos-itive predictive value(PPV),and negative predictive value(NPV)of the screening of TSH,candidate genes,and their combination for CH were analyzed.Results A total of 13 CH patients were screened out based on sensitive thyroid stimulating hormone(sTSH)and free thyroxine(FT4),including 3 patients with hyperthyrotropinemia.Among them,11 were screened out by TSH alone,4 were screened out by candidate genes alone,and 2 were screened out by the combination of TSH and candidate genes.The sensitivity,speci-ficity,PPV,and NPV of TSH for screening CH were 84.62%,99.23%,7.91%,and 99.97%,respectively.The sensitivity,specifici-ty,PPV,and NPV of candidate genes for screening CH were 30.77%,99.87%,15.38%,and 99.87%,respectively.The sensitivity,specificity,PPV,and NPV of the combination of TSH and candidate genes for screening CH were 100%,99.09%,7.88%,and 100%,respectively.The primary mutant gene in the samples with positive candidate genes was DUOX2(85.71%),mainly point muta-tions,among which the c.1588A>T variant was the most common(16.67%).PAX8(14.29%)was the second most common variation,and all of the variation point were c.280G>A.No positive samples for the pathogenic variants of DUOXA2,TSHR,PROP1,TPO,and TG were detected.Conclusion The combined screening of TSH and candidate genes helps to improve the screening efficacy of CH.The genetic etiology of CH in Nanjing area may be mainly the variation of DUOX2 and PAX8 genes.
2.Clinical significance of the combined screening of thyroid stimulating hormone and candidate genes for congenital hypothy-roidism
Yahong LI ; Yun SUN ; Xin WANG ; Xianwei GUAN ; Peiying YANG ; Tao JIANG ; Zhengfeng XU
Chinese Journal of Clinical Laboratory Science 2025;43(7):488-494
Objective To investigate the clinical significance of the combined screening of thyroid stimulating hormone(TSH)and seven candidate pathogenic genes of congenital hypothyroidism(CH)for CH.Methods 16 645 newborns delivered in Nanjing Women and Children's Healthcare Hospital from July 2022 to July 2023 were performed the screening of TSH.Their DNA was extracted from dried blood spots and the chip capture second-generation sequencing technology was used to detect the candidate pathogenic genes,in-cluding dual oxidase 2(DUOX2),dual oxidase maturation factor 2(DUOXA2),prophet of pit-1(PROP1),thyroid-stimulating hor-mone receptor(TSHR),thyroid peroxidase(TPO),thyroglobulin(TG),and paired box 8(PAX8).The sensitivity,specificity,pos-itive predictive value(PPV),and negative predictive value(NPV)of the screening of TSH,candidate genes,and their combination for CH were analyzed.Results A total of 13 CH patients were screened out based on sensitive thyroid stimulating hormone(sTSH)and free thyroxine(FT4),including 3 patients with hyperthyrotropinemia.Among them,11 were screened out by TSH alone,4 were screened out by candidate genes alone,and 2 were screened out by the combination of TSH and candidate genes.The sensitivity,speci-ficity,PPV,and NPV of TSH for screening CH were 84.62%,99.23%,7.91%,and 99.97%,respectively.The sensitivity,specifici-ty,PPV,and NPV of candidate genes for screening CH were 30.77%,99.87%,15.38%,and 99.87%,respectively.The sensitivity,specificity,PPV,and NPV of the combination of TSH and candidate genes for screening CH were 100%,99.09%,7.88%,and 100%,respectively.The primary mutant gene in the samples with positive candidate genes was DUOX2(85.71%),mainly point muta-tions,among which the c.1588A>T variant was the most common(16.67%).PAX8(14.29%)was the second most common variation,and all of the variation point were c.280G>A.No positive samples for the pathogenic variants of DUOXA2,TSHR,PROP1,TPO,and TG were detected.Conclusion The combined screening of TSH and candidate genes helps to improve the screening efficacy of CH.The genetic etiology of CH in Nanjing area may be mainly the variation of DUOX2 and PAX8 genes.
3.Evaluation and Analysis of Health Informatization Construction Policies Based on PMC Index Model
Zhiwei LU ; Jianli WANG ; Lian HE ; Ningning WANG ; Caiwen LI ; Peiying XU ; Jun GAO ; Yinmei XIE
Journal of Medical Informatics 2024;45(9):37-43
Purpose/Significance To quantitatively analyze and evaluate 26 health informatization construction policies issued at the national level,so as to provide basis for improving related policies.Method/Process Based on the policy modeling consistency(PMC)index model,a health informatization construction policy evaluation index system is constructed,which includes 9 first-level indicators and 36 second-level indicators.Appling it to the evaluation of various policy texts,and the health informatization construction policies are analyzed in a holistic and concrete way.Result/Conclusion The overall score of the health informatization construction policies is ex-cellent.2 policies are at the perfect level,80.6%of policies are at the excellent level,and there are no bad level policy texts.However,the driving force of the policy and the balance of policy recipients need to be further improved.
4.Application and case study of landmark analysis in cohort study
Jingchun LIU ; Yating HUO ; Suixia CAO ; Yutong WANG ; Huimeng LIU ; Binyan ZHANG ; Kun XU ; Peiying YANG ; Lingxia ZENG ; Shaonong DANG ; Hong YAN ; Baibing MI
Chinese Journal of Epidemiology 2023;44(11):1808-1814
Cohort study is one of the important research methods in analytical epidemiology because of its clear time sequence relationship, which is better than other observational studies in demonstrating causal association. However, screening diagnosis or other methods are often used to exclude the individuals with outcome events during the enrollment process of the subjects in cohort studies. The accuracy of screening diagnosis and the effectiveness of exclusion will affect the accuracy of the baseline status assessment of the subjects included in the study, which may lead to the causal time sequence reversal of exposure-outcome in the estimation of causal effect. Landmark analysis can be used to control reverse causality by excluding subjects with potentially unknown expose-outcome timing. In this paper, we describe the basic principles and analytical steps of landmark analysis, and use data from the Chinese Longitudinal Healthy Longevity Survey to explore the relationship between physical activity and frailty, and introduce the specific application of landmark analysis for the purpose of facilitating its application and inferring causal effects more accurately in cohort studies.
5.Analysis of 90 hospitalized children with refractory Tourette′s syndrome
Huihui ZHANG ; Peiying JIN ; Jiuping ZHANG ; Xin CHENG ; Ping XU ; Xiaoyan KE
Chinese Journal of Applied Clinical Pediatrics 2021;36(19):1496-1500
Objective:To analyze the diagnosis and treatment process, treatment methods and clinical efficacy of children with refractory Tourette′s syndrome (TS), thus providing a basis for comprehensive prevention and treatment of refractory TS.Methods:A total of 90 children with refractory TS treated in the Child Mental Health Research Center of Nanjing Brain Hospital Affiliated to Nanjing Medical University from May 2012 to July 2019 were recruited.Their baseline characteristics, diagnosis of comorbidities before and after hospitalization, combined non-drug therapy during hospitalization, the drug types used before and after admission, the dosages of main anti-tic drugs used before admission and at discharge, and the treatment outcomes of comorbidities after admission were retrospectively analyzed.The Yale global tic severity scales (YGTSS) scores and the reduction rate were used to assess the severity of tic disorder and therapeutic effect, and the clinical global impression-efficacy index (CGI-EI) scores were graded for assessing the final therapeutic efficacy.Results:Among the 90 children with refractory TS, 82 children were males and 8 children were females.There was a significant difference in the YGTSS scores at admission and discharge (25.04±12.77 vs.67.64±12.46) ( t=27.55, P<0.05). The proportion of all recruited children diagnosed with comorbidities at discharge was significantly higher than that of admission (85.56% vs.47.78%, χ2=28.90, P<0.05). Combined non-drug therapies after admission mainly included psycho-education and supportive therapy (90 cases), comprehensive behavioral intervention for tics (47 cases) and relaxation therapy (19 cases). The distribution of drugs used before and after admission was the same, and there was no significant difference in the dosages of the five major anti-tic drugs before admission and at discharge (all P>0.05). There were no significant differences in YGTSS scores and reduction rate, and CGI-EI scores of children with or without comorbidities before and after admission (all P>0.05), suggesting the similar therapeutic outcomes. Conclusions:There is no difference in efficacy between outpatient treatment and anti-tic medication of children with refractory TS, and a comprehensive hospitalized intervention can significantly improve their clinical symptoms.Diagnosis and treatment of comorbidities and combined non-drug treatments like comprehensive psychological and behavioral interventions are the key events to improve the prognosis of children with refractory TS.
6.Awareness of palliative care and its influencing factors in community residents in Hangzhou
XIE Yanhong ; XU Ying ; YANG Shulan ; YAN Jing ; JIN Xiaoqing ; LIU Caixia ; LU Peiying
Journal of Preventive Medicine 2020;32(5):466-470
Objective:
To understand the awareness of palliative care and its influencing factors in community residents in Hangzhou,so as to provide basis for the development of palliative care service.
Methods:
By convenient sampling method,the residents in the urban-rural junction of Xihu District were recruited. A self-designed questionnaire was used to investigate their awareness of palliative care. The logistic regression model was employed to analyze the influencing factors.
Results :
A total of 519 questionnaires were recovered,with a response rate of 97.92%. There were 227 males and 292 females,accounting for 43.74% and 56.26%,respectively. There were 43,218 and 258 residents with more,basic and little understanding about palliative care, accounting for 8.29%,42.00% and 49.71%. The residents learned about palliative care mainly through television and radio,with 245 cases accounting for 47.21%;and they thought that the main reason for low awareness of palliative care was a lack of related knowledge,with 396 cases accounting for 76.30%. The results of multivariate logistic regression analysis showed that 50-59 years old(OR = 0.467,95% CI:0.285-0.767),primary school education and below(OR = 2.248,95%CI:1.239-4.079)and experience of caring for dying patients(OR = 1.551,95% CI:1.094-2.199)were the influencing factors for the awareness of palliative care.
Conclusion
The residents in Hangzhou had relatively low awareness of palliative care,which were associated with age,education level and experience of caring for dying patients.
7. Effect of traditional Chinese medicine enema combined with rhubarb acupoint in the treatment of severe acute pancreatitis complicated with paralytic ileus
Peiying WEN ; Yongqiang XU ; Meizhen FANG ; Jianying CHEN
Chinese Journal of Primary Medicine and Pharmacy 2019;26(11):1281-1284
Objective:
To observe the clinical effect of traditional Chinese medicine enema combined with rhubarb acupoint in the treatment of severe acute pancreatitis(SAP) complicated with paralytic ileus.
Methods:
A total of 60 SAP patients complicated with paralytic ileus treated in the First People's Hospital of Huzhou from June 2015 to June 2017 were selected and randomly divided into two groups by random lottery method, with 30 cases in each group.The two groups were treated with routine anti-infection and rehydration.The control group was treated with traditional Chinese medicine enema combined with placebo, and the observation group was treated with traditional Chinese medicine enema combined with rhubarb on Shenque acupoint, and the two groups were treated for 7d.The recovery time of blood amylase, bowel sounds recovery time, first self defecation time, local complications and mortality were observed in the two groups.
Results:
The recovery time of blood amylase, the recovery time of intestinal sound and the time of the first defecation were (8.87±2.30)d, (2.88±1.09)d and (3.51±1.32)d, respectively, which were significantly shorter than those of the control group [(10.29±2.01)d, (3.67±1.30)d and (4.57±1.41)d], the differences were statistically significant(
8.Education via WeChat improves glucose control and pregnant outcomes in women with gestational diabetes mellitus
Ying SHAO ; Gengsheng HE ; Xianming XU ; Jieyi HE ; Peiying WU
Chinese Journal of Perinatal Medicine 2018;21(10):678-682
Objective To evaluate the effect of strengthening nutrition intervention in gravidas with gestational diabetes mellitus (GDM) with WeChat on blood glucose control and pregnant outcomes.Methods A total of 410 gravidas,diagnosed with GDM and treated in the Department of Clinical Nutrition of Shanghai General Hospital from October 2015 to April 2016,were enrolled and randomly divided into two groups (n=205).The control group received traditional nutrition clinic education only,while the intervention group was given strengthened nutrition education through WeChat in addition to traditional education.Blood glucose level and insulin dosage were followed up after one,two and four weeks of intervention.Pregnant outcomes and patient satisfaction were investigated on 42 d after delivery.T test,Chi-square test and non-parametric test were used for statistical analysis.Results (1) Two weeks after the intervention,the average 1-hour postprandial blood glucose in the intervention group was lower than in the control group [(7.46± 1.01) vs (7.68± 1.06) mmol/L,t=2.243,P=0.025].After 4 weeks,both 1-and 2-hour postprandial blood glucose levels of the intervention group were lower than those of the control group [(7.03±0.65) vs (7.33±0.63) mmol/L,t=4.629,P<0.05;(6.00±0.65) vs (6.21 ±0.62) mmol/L,t=3.153,P<0.05] and more gravidas achieved euglycemia [79.9% (151/189) vs 60.8% (113/186),x2=16.483,P<0.001].(2) Compared with the control group,the intervention group had a higher vaginal delivery rate [38.7% (72/186) vs 50.5% (95/188),x2=5.288,P=0.021] and a lower rate of postpartum complications [9.1% (17/186) vs 2.1% (4/188),x2=7.394,P=0.007].All of the gravidas in the intervention group were satisfied with the WeChat intervention except one lost to follow up [99.5% (203/204)].Conclusions Strengthening nutrition education through WeChat is much more effective than traditional nutritional outpatient education alone in order to achieve a better control of blood glucose and improve pregnant outcomes in GDM women.This intervention is highly acceptable to gravidas and can be further extensively applied in nutrition clinic.
9.Diagnostic value of mammographic calcification for ductal carcinoma in situ without palpable lumps
Peng XU ; Hua XU ; Cuiping WANG ; Zhengshuai TAN ; Kun FANG ; Peiying LI ; Qitang WANG
Chinese Journal of Endocrine Surgery 2018;12(5):386-390
Objective To explore the diagnostic value of calcification by full field digital mammography in cases without breast palpable lumps or nodules in ductal carcinoma in situ(DC1S).Methods Based on breast imaging-reporting and data system (BI-RADS)proposed by the American College of Radiology (ACR),the cases without palpable lumps or nodules,but with calcification (over Category 4a)found by full field digital mammography admitted from Oct.2014 to Oct.2016 were analyzed.They underwent excisional biopsy after three-dimensional guide wire positioning or three-dimensional vacuum rotary cutting.After being filmed again to make sure the resection was complete,the isolated specimen were sent to pathological examination.The pathology and calcification were analyzed and summarized.Results Among 126 cases,71 (56.3%)were breast adenosis,41 (32.5%) were DCIS,6(4.8%) were infiltrating ductal carcinoma (IDC),and 8 (6.3%)were other types.The detection rate of DCIS in younger group was higher.The calcifications in DCIS were mostly linear-branching,segmental calcification,and those in IDC were mostly pleomorphic,clustering or regional calcification.Conclusion Full field digital mammography has great diagnostic value for DCIS in cases with calcification but without palpable breast lumps or nodules.
10.Analysis of related risk factors of functional intestinal obstruction in general surgical patients after open abdominal surgery
Meizhen FANG ; Peiying WEN ; Yongqiang XU ; Jianying CHEN
Chinese Journal of Modern Nursing 2018;24(8):931-935
Objective To analyze the related risk factors of functional intestinal obstruction in general surgical patients and to discuss the feasible nursing and prevention measures. Methods The clinical data of totally 658 patients after abdominal surgery who received open abdominal surgery in the Department of General Surgery of the First People's Hospital of Huzhou in Zhejiang Province from January 2015 to January 2017 were retrospectively analyzed. These patients were divided into the intestinal obstruction group and the non-intestinal obstruction group based on the occurrence of postoperative functional intestinal obstruction. The single factor analysis was then conducted over the age, gender, operation time, anesthesia, postoperative analgesic use (opioids and non-opioids), abdominal operation history, smoking history, alcohol drinking history, diabetes mellitus history and history of hypertension; and Logistic regression analysis was also performed on the influencing factors to determine the impact of functional intestinal obstruction in patients who received open abdominal surgery. Results Totally 47 out of the 658 patients receiving open abdominal surgery developed functional intestinal obstruction, with an incidence of 7.14%. The univariate analysis showed that there were statistically significant differences between the two groups in gender, age, operation time, postoperative analgesic use, history of abdominal surgery and history of diabetes mellitus (P<0.05). According to the multivariate Logistic regression analysis, gender, age, operation time, history of abdominal surgery and history of diabetes were the risk factors of postoperative functional intestinal obstruction (P<0.01). Conclusions The relevant risk factors for postoperative functional intestinal obstruction in general surgical patients after abdominal surgery include gender, age, operation time, history of abdominal surgery and diabetes mellitus. Corresponding nursing and prevention measures should be taken according to the relevant risk factors of patients.


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