1.Gene test of 1 536 newborns and pedigree results of 6 cases in Dalian
Ming SHI ; Huiyun YANG ; Chen ZHANG ; Xiaoxue LIU ; Jing ZHANG ; Wenxiu ZHU
Chinese Journal of Postgraduates of Medicine 2024;47(7):600-605
Objective:To understand the gene carrying rate of neonatal genetic deafness in Dalian area, and to analyze the pedigree of 6 newborns with positive deafness gene test, to provide a reference basis for preventing genetic deafness.Methods:A total of 1 536 newborns born in Dalian Women′s and Children′s Medical Center (Group) from January to October in 2022 were retrospectively enrolled to detect the 4 genes of hereditary deafness, including GJB2, GJB3, SLC26A4 (PDS) and MT-RNRI (12SrRNA). Among them, 6 newborns with hereditary deafness were tested for NGS Panel gene.Results:A total of 85 deafness gene mutations were detected in 1 536 newborns, with the total carrying rate of 5.53% (85/1 536). Thirty-two cases of GJB2 mutations with carrying rate of 2.08% (32/1 536); 4 cases of GJB3 mutation of 0.26% (4/1 536); 32 cases of SLC26A4 (PDS) gene mutations of 2.08% (32/1 536); 14 cases of MT-RNRI (12SrRNA) mutations with carrying rate of 0.91% (14/1 536); 2 cases had compound heterozygous mutations of GJB2/GJB3, with a carrier rate of 0.13% (2/1 536); 1 cases had compound heterozygous mutations of GJB2/SLC26A4 (PDS), with a carrier rate of 0.07% (1/1 536); 1 case of compound heterozygous mutation in three-gene and a heterozygous mutation in KCNQ4 were detected in NGS Panel testing for hereditary deafness.Conclusions:Homozygous mutation and compound heterozygous mutation are the main factors of autosomal recessive gene deafness, and the NGS Panel gene detection is of great significance for gene traceability and the detection of rare deafness gene.
2.Analysis of combined screening results for hearing and deafness in 842 newborns in Dalian
Huiyun YANG ; Shijun LI ; Jing ZHANG ; Wenxiu ZHU ; Xiaoxue LIU ; Ming SHI
Chinese Journal of Postgraduates of Medicine 2023;46(5):461-465
Objective:To analyze the results of the joint screening of newborn hearing and deafness genes in Dalian to provide a reference for the prevention and control of hereditary deafness.Methods:Eight hundred and forty-two neonates born in Dalian Women and Children′s Medical Group from January 1, 2022 to May 30, 2022 were screened retrospectively, using AABR (automatic brainstem evoked potential). And 20 mutation sites of common genetic deafness 4 genes , including GJB2, GJB3, SLC26A4 (PDS) and mitochondrial genes associated with drug-induced deafness (MT-RNRI)(12SrRNA), were detected by high-throughput sequencing.Results:Among the 842 newborns, 840 passed hearing screening (99.8%); 36 cases (4.3%) passed the hearing screening but not the hearing loss gene screening; 804 cases passed through the both screening (95.5%); 2 cases (0.24%) failed in the both screening. 38 cases of deafness gene mutations were detected, with a total carrying rate of 4.51% (38/842). Among them, the carrying rates of heterozygous mutations in GJB2, GJB3, SLC26A4 (PDS), MT-RNRI (12SrRNA) were 1.90%, 0.24%, 1.30%, and 0.95%, respectively. The carrying rates of GJB2/GJB3 composite heterozygous mutations were 0.12%.Conclusions:The combined screening of neonatal hearing and deafness genes can reduce the missed rate of hearing screening. The carrier rate of neonatal deafness gene in Dalian is 4.51%, with the highest GJB 2 carrier rate, followed by SLC26A4 (PDS) carrier rate.
3.Analysis on the Current Status and Influencing Factors of Narrative Nursing Knowledge, Attitude, and Practice among Nurses in Grade A Tertiary Hospitals
Li ZHANG ; Lin NAN ; Qiang HAN ; Jing XUE ; Yingying DOU ; Yuanyuan LI ; Jin LI ; Huiyun YANG
Chinese Medical Ethics 2023;36(8):897-903
【Objective:】 To understand the current status of narrative nursing knowledge, attitude, and practice (KAP) among nurses in grade A tertiary hospitals, and to provide a basis for the development of narrative nursing in relevant areas. 【Methods:】 Using convenience sampling methods, 931 nurses from three grade A tertiary hospitals in Xi’an were selected as subjects. A cross-sectional survey was conducted using the Clinical Nurses’ Narrative Nursing Knowledge and Trustworthiness Questionnaire and the General Self-Efficacy Scale. Multiple linear regression analysis was used to explore the influencing factors of nurses’ narrative nursing KAP. 【Results:】 The scores on the three dimensions of narrative nursing KAP were (23.70±2.99) points, (31.69±5.92) points, and (30.26±5.32) points, respectively. Nursing workload, general self-efficacy, professional title, and nursing satisfaction were the influencing factors of nurses’ narrative nursing knowledge dimension (P<0.05). There were statistically significant differences in nurses’ narrative nursing attitude dimension among nursing workload, general self-efficacy, professional title, monthly income, and nursing satisfaction (P<0.05). Nursing workload, general self-efficacy, nursing satisfaction, and accompanying experience were the influencing factors of nurses’ narrative nursing behavior dimension (P<0.05). 【Conclusion:】 Nurses in grade A tertiary hospitals have moderate narrative nursing knowledge, positive attitudes, and poor practice execution. The high nursing workload is the main barrier factor for the current development of narrative nursing. Nursing managers should actively build a diversified training system and guarantee system to boost the development of narrative nursing in clinical nursing work, and further promote the development of narrative nursing concepts.
4.Study of Z-score of fetal heart circumference and heart area in prediction of homozygous α-thalassemia
Huan HUANG ; Xinyan LI ; Caiying PANG ; Xiaoxian TIAN ; Yuanyuan LI ; Jing LU ; Huiyun HU ; Ling TAN
Chinese Journal of Ultrasonography 2020;29(6):489-493
Objective:To explore the values of Z-scores of fetal heart circumference (HC) and heart area (HA) in prediction of homozygous α-thalassemia.Methods:From February 2014 to March 2019, 233 fetuses of 15 to 23 gestation weeks with risk of homozygous α-thalassemia were examined by prenatal ultrasound in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. HC, HA and cardiothoracic ratio (CTR) were measured. HC and HA were converted into Z-scores, respectively. The ROC curves were established and analyzed based on HC Z-score, HA Z-score or CTR respectively to compare their predicting efficacies for fetal homozygous α-thalassemia. Finally, the sensitivity, specificity, positive predictive value and negative predictive value were obtained by the best cutoff values.Results:①Sixty-five fetuses were diagnosed as homozygous α-thalassemia and classified as α-thalassemia group. One hundred and sixty-eight fetuses were mild and normal and were classified as control group. ②HC Z-score, HA Z-score and CTR in the α-thalassemia group were significantly higher than those in the control group, and the differences between the two groups were statistically significant ( P<0.001). ③The area under ROC curve of HA Z-score was the largest compared with HC Z-score and CTR, and the prediction efficacy was the highest ( Z test=2.144 and 2.517 respectively, P<0.05). ④The best cutoff values were HC Z-score>1.67, HA Z-score>2.06 and CTR>0.53. Sensitivities of predicting homozygous α-thalassemia in 15 to 23 gestation weeks were 92.31%, 100% and 89.23%, respectively. Specificities were 94.05%, 95.83% and 93.45%, respectively. Positive predictive values were 84.43%, 89.00% and 84.05%, respectively. Negative predictive values were 96.91%, 100% and 95.57%, respectively. Conclusions:Fetal heart HC Z-score and HA Z-score are safe and effective novel ultrasonic indexes for predicting homozygous α-thalassemia. Especially compared with traditional CTR, HA Z-score has a significantly higher predicting efficacy, which can improve the detection rate of homozygous α-thalassemia and reduce the need for invasive examination.
5.Investigation and Ethical Analysis on Surrogacy
Chinese Medical Ethics 2017;30(5):535-538
Objective:To investigate the current situation of surrogate in China,analyze the reasons,and then provide effective suggestions and countermeasures.Methods:A questionnaire survey was conducted among medical staff and patients in an institution with assisted reproductive technology (ART),combining literature review and sociological research methods such as data maps,to explore and analyze the surrogacy.Results:The number of institutions with ART increased rapidly and its regulation became difficult.More surrogate network was observed in first-tier cities as well as the eastern and southeastern coastal provinces.That respondents agreeing with surrogacy was quite serious in some provinces.The reasons of surrogate were patients' needs,social concepts,weak government supervision,and so on.Conclusions:It should improve the laws of ART,explore long-term supervision mechanism,strengthen the management of internet,shield the information about surrogate,enhance medical ethics education for ART staff,and guide the infertility patients to establish the correct ethical concepts.
6.High risk factors of deep vein thrombosis after artificial joint replacement in elderly patients and nursing countermeasures
Huiyun JING ; Haiyan SUN ; Yunfen JIANG
Journal of Clinical Medicine in Practice 2017;21(12):98-100,108
Objective To analyze the risk factors of deep venous thrombosis in elderly people after hip joint replacement and nursing countermeasures.Methods A total of 56 elderly patients with DVT after artificial joint replacement in our hospital were selected.And 60 patients without DVT were selected at the same time.Single factor analysis was used to analyze the independent influencing factors of deep vein thrombosis after TRK.At the same time, nursing experience of elderly patients was explored.Results Age, body mass index, blood coagulation function, blood coagulation function, blood loss, smoking history, history of diabetes, and anticoagulation care or not between the DVT group and no DVT group showed significant difference(P<0.05).Conclusion Age, body mass index, blood coagulation function, total hip replacement, blood loss, smoking history, diabetes history, and the prevention and nursing of the patients with DVT were the high risk factors of the patients.The patients need to strengthen preoperative, intraoperative and postoperative monitoring and actively carry out preventive anticoagulation in order to effectively prevent the emergence of DVT after TRK in elderly patients.
7.High risk factors of deep vein thrombosis after artificial joint replacement in elderly patients and nursing countermeasures
Huiyun JING ; Haiyan SUN ; Yunfen JIANG
Journal of Clinical Medicine in Practice 2017;21(12):98-100,108
Objective To analyze the risk factors of deep venous thrombosis in elderly people after hip joint replacement and nursing countermeasures.Methods A total of 56 elderly patients with DVT after artificial joint replacement in our hospital were selected.And 60 patients without DVT were selected at the same time.Single factor analysis was used to analyze the independent influencing factors of deep vein thrombosis after TRK.At the same time, nursing experience of elderly patients was explored.Results Age, body mass index, blood coagulation function, blood coagulation function, blood loss, smoking history, history of diabetes, and anticoagulation care or not between the DVT group and no DVT group showed significant difference(P<0.05).Conclusion Age, body mass index, blood coagulation function, total hip replacement, blood loss, smoking history, diabetes history, and the prevention and nursing of the patients with DVT were the high risk factors of the patients.The patients need to strengthen preoperative, intraoperative and postoperative monitoring and actively carry out preventive anticoagulation in order to effectively prevent the emergence of DVT after TRK in elderly patients.
8.Investigation and Analysis of Informed Consent in Assisted Reproductive Technology Institutions
Chinese Medical Ethics 2015;(4):645-647
Objective:To investigate and analyze of informed consent in assisted reproductive technology ( ART) institutions, understand the status and problems.Improve the content and methods of informed consent. Methods:A questionnaire was investigated for the medical staffs and patients anonymously in ART institutions. Results:The implementation of informed consent need to be improved.Medical staffs protect the patient privacy inadequately.The patients also not pay attention to the informed consent.Medical staffs look forward to ethics training.Conclusions:The current situation of informed consent is not optimistic in ART institutions.The ethics training need to be strengthen to improve the awareness of medical staffs about informed consent.The content and methods of informed consent should be standardized,and explore the evaluation methods to enhance the effect of in-formed consent.
9.A case-control study on the risk factors of work-related acute pesticide poisoning among farmersfrom Jiangsu province
Zhi-Bin TU ; Meng-Jing CUI ; Hong-Yan YAO ; Guo-Qing HU ; Xiang HUIYUN ; Stallones LORANN ; Xu-Jun ZHANG
Chinese Journal of Epidemiology 2012;33(4):382-385
Objective To explore the risk factors on cases regarding work-related acute pesticide poisoning among farmers of Jiangsu province.Methods A population-based,1 ∶ 2 matched case-control study was carried out,with 121 patients as case-group paired by 242 persons with same gender,district and age less then difference of 3 years,as controls.Cases were the ones who had suffered from work-related acute pesticide poisoning.A unified questionnaire was used.Data base was established by EpiData 3.1,and SPSS 16.0 was used for both data single factor and multi-conditional logistics regression analysis.Results Results from the single factor logistic regression analysis showed that the related risk factors were:lack of safety guidance,lack of readable labels befores praying pesticides,no regression during application,using hand to wipe sweat,using leaking knapsack,body contaminated during application and continuing to work when feeling ill after the contact of pesticides.Results from multi-conditional logistic regression analysis indicated that the lack of safety guidance (OR=2.25,95% CI:1.35-3.74),no readable labels befores praying pesticides (OR=1.95,95% CI:1.19-3.18),wiping the sweat by hand during application (OR=1.97,95%CI:1.20-3.24)and using leaking knapsack during application (OR=1.82,95% CI:1.10-3.01) were risk factors for the occurrence of work-related acute pesticide poisoning.Conclusion The lack of safety guidance,no readable labels befores praying pesticides,wiping the sweat by hand or using leaking knapsack during application were correlated to the occurrence of work-related acute pesticide poisoning.
10.Develope Monoclonal Antibody against Foot-and-mouth Disease Virus A Type
Tong LIN ; Jing LI ; Junjun SHAO ; Guozheng CONG ; Junzheng DU ; Shandian GAO ; Huiyun CHANG
Virologica Sinica 2011;26(4):273-278
In order to develop an anti-FMDV A Type monoclonal antibo by (mAb),BABL/c mice were immunized with FMDV A type.Monoclonal antibodies (mAbs) 7B11 and 8H4 against Foot-and-mouth disease virus (FMDV) serotype A were produced by fusing SP2/O myeloma cells with splenocyte from the mouse immunized with A/AV88.The microneutralization titer of the mAbs 7B11 and 8H4 were 1024 and 512,respectively.Both mAbs contain kappa light chains,the mAbs were IgG1.In order to define the mAbs binding epitopes,the reactivity of these mAbs against A Type FMDV,were examined using indirect ELISA,the result showed that both mAbs reacted with A Type FMDV.These mAbs may be used for further vaccine studies,diagnostic methods,prophylaxis,etiological and immunological research on FMDV.Characterization of these ncindicated that prepared anti-FMDV A mAbs had no cross-reactivity with Swine Vesicular Disease (SVD) or FMDV O,Asial and C Type antigens.Their titers in abdomen liquor were 1:5×106 and 1:2×106,respectively.7B11 was found to be of subtype IgG1,8H4 was classified as IgG2b subtype.The mAbs prepared in this study,are specific for detection of FMDV serotype A,and is potentially useful for pen-side diagnosis.

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