1.Carrier screening and prenatal diagnosis analysis of high-risk cases in 3 044 preconception and early pregnancy couples
Xiaolin FU ; Wei HOU ; Manli ZHANG ; Xiaoxiao XIE ; Yan MENG ; Honghui ZHOU ; Qingdong ZHAO ; Jialin HU ; Guiping MO ; Yanping LU
Chinese Journal of Obstetrics and Gynecology 2025;60(3):161-170
Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.
2.Thoughts and Explorations on the Cultivation of Top Innovative Talents in Nursing With Chinese Characteristics in the New Era
Xiaofeng XIE ; Fengying ZHANG ; Yi YIN ; Jinbo CUI ; Jianhua LI ; Jiazhuang XU ; Xiaolin HU ; Yali TIAN ; Wen ZHOU ; Xuantao WU ; Shuanjiu LI ; Ka LI
Journal of Sichuan University (Medical Sciences) 2025;56(3):881-886
The cultivation of top innovative nursing talents with Chinese characteristics in the new era lends critical support to the accomplishment of the strategic goal of the Healthy China Initiative.Herein,we reviewed the historical development of nursing science in China,clarified the conceptual framework of nursing science with Chinese characteristics in the new era,and identified the essential qualities and competencies required for top innovative nursing talents.Furthermore,we analyzed the mission and challenges in cultivating these nursing talents,and put forward new approaches,including formulating new ethics and political education theories specific to nursing science with Chinese characteristics,establishing a cross-disciplinary educational model of Nursing+X,and creating a new nursing talent cultivation ecosystem adapted to the era of human-machine symbiosis.This study provides theoretical insights into the cultivation of top innovative nursing talents who align their development well with national strategic needs,embody patriotism,and possess a strong sense of contemporary responsibility.
3.Carrier screening and prenatal diagnosis analysis of high-risk cases in 3 044 preconception and early pregnancy couples
Xiaolin FU ; Wei HOU ; Manli ZHANG ; Xiaoxiao XIE ; Yan MENG ; Honghui ZHOU ; Qingdong ZHAO ; Jialin HU ; Guiping MO ; Yanping LU
Chinese Journal of Obstetrics and Gynecology 2025;60(3):161-170
Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.
4.Effects of the water extract of Morinda officinalis on the expressions of sex hormones and receptors in bisphenol A-contaminated mice
Li ZHANG ; Xiaobing XIN ; Huanhuan HU ; Xiaolin LI ; Hongxiao DONG ; Xiangju JIANG
China Pharmacy 2024;35(16):1979-1984
OBJECTIVE To explore the effects of the water extract of Morinda officinalis on the expressions of sex hormones and receptors in bisphenol A (BPA)-contaminated mice. METHODS Totally 60 male Kunming mice were randomly divided into control group, model group, and low-dose, medium-dose and high-dose groups of M. officinalis water extract (20, 40, 60 mg/kg), with 12 mice in each group. The model group and M. officinalis water extract groups were given BPA intragastrically [50 mg/(kg·d), once a day, for 4 consecutive weeks] to establish the BPA-contamination model of mice. After modeling, each drug group was gavaged with the corresponding drug solution, once a day, for 4 consecutive weeks. After the last medication, the body weight and testicular weight of the mice in each group were weighed, the histopathological changes in the testis were observed, and the serum sex hormones [luteinizing hormone (LH), follicle-stimulating hormone (FSH)] contents and the mRNA and protein expressions of LH receptor (LHR) and FSH receptor (FSHR) in the testicular tissues were detected. RESULTS Compared with the control group, the testicular tissues of mice in the model group had structural degeneration, loose connections between spermatogenic cells and Sertoli cells, obvious lacunae and reduced number of spermatogenic cells; the mRNA and protein expressions of LHR and FSHR in testicular tissues were significantly down-regulated (P<0.01), but there were no significant changes in their body weights, testicular weights, and serum contents of LH and FSH (P>0.05). Compared with the model group, the histopathological changes of testicular tissues of mice in each dose group of M. officinalis water extract were improved to different degrees, and the mRNA and protein expressions of LHR and FSHR in testicular tissues were up-regulated to different degrees (P<0.05 or P< 0.01), and some indicator levels were similar to those of the control group (P>0.05). However, there were no significant changes in their body weights, testicular weights, and serum contents of LH and FSH (P>0.05). CONCLUSIONS The water extract of M. officinalis has a certain improvement effect on testicular injury in BPA-contaminated mice, which might be related to its increase in the mRNA and protein expressions of LHR and FSHR.
5.Molluscicidal effect and costs of spraying pyriclobenzuron with drones against Pomacea canaliculata
Xiaolin ZHAO ; Ying CHEN ; Yanyue HU ; Yanggeng XU ; Youqi WANG ; Dan LÜ ; Chuanxu WAN ; Yang SUN ; Liping DUAN ; Weisi WANG ; Shuijin HUANG
Chinese Journal of Schistosomiasis Control 2024;36(5):441-449
Objective To evaluate the molluscicidal effects and costs of spraying 20% suspension concentrate of pyricloben-zuron sulphate (SCPS) with drones against Pomacea canaliculata in paddy environments, so as to provide insights into the extensive applications of pyriclobenzuron against P. canaliculata. Methods On July 2022, a paddy field was selected from Nanchang City, Jiangxi Province as the study area, and 72 independent rectangular plots measuring 2 m × 1 m were allocated in the study area, with 1 m interval between each plot, and 20 P. canaliculata snails gently placed in each plot. The activity of 25% wettable powder of pyriclobenzuron sulphate (WPPS) by manual spraying at doses of 0.50, 1.00, 2.00 g/m2 and 4.00 g/m2 against P. canaliculata was tested in 54 plots, and manual spraying of 50% wettable powder of niclosamide ethanolamine salt (WPNES) at a dose of 0.10 g/m2 served as a chemical control, while manual spraying of the same volume of clean water served as a blank control, with 9 plots in each group. The activity of SCPS against P. canaliculata was tested in the remaining 18 plots. Based on the molluscicidal tests of WPPS, the molluscicidal effect of SCPS by manual spraying at doses of 0.20, 0.30, 0.40 g/m2 and 0.50 g/m2 against P. canaliculata was evaluated, and manual spraying of WPNES at a dose of 0.10 g/m2 served as a chemical control, while manual spraying of the same volume of clean water served as a blank control, with three plots in each group. On July 2023, 14 paddy fields with a mean living P. canaliculata density of > 5 snails/m2 were selected from Yujiang District, Yingtan City, Jiangxi Province for molluscicidal tests. Based on the molluscicidal effect of pyriclobenzuron against P. canaliculata in plots, the molluscicidal effects of WPPS by manual spraying at doses of 0.25, 0.50 g/m2 and 1.00 g/m2 and manual applications of WPPS at dose of 0.25, 0.50, 1.00 g/m2 and 2.00 g/m2 mixed with soil were tested, and manual spraying of 0.10 g/m2 WPNES served as a chemical control group, while manual spraying of the same volume of clean water served as a blank control, with one paddy field in each group. Based on the effect of pyriclobenzuron against P. canaliculata in plots, the activity of SCPS sprayed with drones at doses of 0.25 g/m2 and 0.50 g/m2 mixed in water at 2 kg/667 m2 and 4 kg/667 m2 was tested against P. canaliculata, and spraying of the same volume of clean water with drones served as a blank control. All P. canaliculata snails were captured 3 days and 7 days following chemical treatment in plots and paddy fields and identified for survival, and the mortality and corrected mortality of P. canaliculata snails were estimated. In addition, the areas of chemical treatment, amount of molluscicide use and labor costs of chemical treatment were estimated in molluscicidal tests in paddy fields, and the costs of chemical treatment for an area covering 667 m2 by drones and manual applications were calculated. Results The mortality of P. canaliculata snails was all 100% in plots 3 days and 7 days following spraying WPPS at doses of 0.50, 1.00, 2.00 g/m2 and 4.00 g/m2, and the mortality rates of P. canaliculata snails were 66.67% to 100.00% 3 days post-treatment with SCPS at various doses (χ2 = 277.897, P < 0.05) and 76.67% to 100.00% 7 days post-treatment (χ2 = 274.206, P < 0.05). The mortality rates of P. canaliculata snails were 98.19% to 100.00% 3 days post-treatment with WPPS at various doses in paddy fields. There was a significant difference in the mortality of P. canaliculata snails among WPPS treatment groups and controls (χ2 = 270.778, P < 0.05), and there were no significant differences between WPPS treatment groups and the chemical control group (all P values > 0.05), while there were significant differences in the mortality of P. canaliculata snails between WPPS treatment groups and the blank control group (all P values < 0.05). The mortality rates of P. canaliculata snails were 89.83% to 95.31% 3 days post-treatment with SCPS at various doses sprayed with drones, and there was a significant difference in the mortality of P. canaliculata snails among SCPS treatment groups and the blank control group (χ2 = 1 132.892, P < 0.05). There were no significant differences in the mortality of P. canaliculata snails among SCPS treatment groups or water mixture groups (all P values > 0.05), and there were significant differences in the mortality of P. canaliculata snails between SCPS treatment groups and the blank control group (all P values < 0.05). The mortality rates of P. canaliculata snails were 94.62% to 100.00% 7 days post-treatment with SCPS at various doses sprayed with drones, and there was a significant difference in the mortality of P. canaliculata snails among SCPS treatment groups and the blank control group (χ2 = 1 266.932, P < 0.05), with the highest mortality found following spraying 0.50 g/m2 SCPS mixed in 2 kg/667 m2 water with drones (P < 0.05). The costs of P. canaliculata snail control by drones and manually were 35.85 Yuan/667 m2 and 43.33 Yuan/667 m2; however, the snail control efficiency was 6.67 times higher by drones than by manual applications. Conclusions SCPS sprayed with drones is highly active against P. canaliculata snails in paddy fields. SCPS sprayed with drones is highly efficient and low in cost for P. canaliculata snail control in paddy fields, beaches and river courses.
6.Effect of point-of-care testing teaching based on POC CLOUD intelligent management platform
Wuwei ZENG ; Wei XIAO ; Liangshan HU ; Xiaolin FANG ; Donglin CAO
Modern Hospital 2024;24(11):1792-1796
Objective To explore the effect of the POC CLOUD intelligent management platform on the training of resi-dent doctors with the principles and operation of various point-of-care testing(POCT)instruments to develop quality control man-agement skills and ensure result accuracy.Methods In alignment with Standardized Training Content and Standards for Resi-dent Trainees(2022 Edition and the development of POCT teaching in departments,the POC CLOUD platform was employed to provide information-based and standardized training for resident trainees.Results The POC CLOUD platform standardized resi-dent trainees'qualifications for operating POCT instruments and facilitated a quick understanding of the instruments'status in ro-tating departments.This approach enhanced resident trainees'learning and quality control management skills,enabling them to analyze and review test results effectively.Conclusion POCT teaching method based on the POC CLOUD platform systematical-ly develops resident trainees'operational and quality control abilities,ensuring the accuracy and reliability of test results and im-proving the overall quality of resident trainees.
7.Application of augmented reality technology combined with transcranial Doppler ultrasound in nursing teaching of cerebrovascular diseases
Yongmei XU ; Na CHEN ; Jun HU ; Xue ZHANG ; Xiaolin XIA ; Haoyu TANG ; Cui WANG
Chinese Journal of Medical Education Research 2024;23(4):522-527
Objective:To explore the application of virtual augmented reality (AR) technology combined with transcranial Doppler ultrasound (TCD) in nursing teaching of cerebrovascular diseases.Methods:Eighty-six nursing students who interned in the Department of Neurology of The First Affiliated Hospital of Army Medical University from January 2021 to November 2022 were assigned into control group (students of grade 2021) and research group (students of grade 2022). The control group received traditional teaching with AR technology about the anatomy of the cerebral arterial circle, its composition, and adjacent structures. The research group was given AR-assisted teaching combined with TCD-based demonstration and interpretation. At the end of internship, the assessment scores, satisfaction with teaching, clinical decision-making ability, self-learning ability, and problem-solving ability were compared between the two groups. SPSS 23.0 was used to perform the non-parametric test, t test, and chi-square test. Results:The theoretical, practical, and comprehensive ability assessment scores of the research group [90 (89, 96), 95 (90, 96), and 93 (90, 96), respectively] were significantly higher than those of the control group [89 (87, 91), 90 (89, 92), and 91 (89, 94), respectively]. In terms of satisfaction with teaching effects, teaching methods, teaching content, and teaching style, the scores of the research group [16 (15, 18), (5.98±0.91), (3.38±0.52), and 13 (11, 14), respectively] were significantly higher than those of the control group [14 (13, 16), (4.23±0.65), (2.37±0.36), and 13 (10, 14 ), respectively]. The research group showed significantly better independent learning abilities than the control group in information seeking [(4.66±0.71) vs. (4.00±0.61)] and solution seeking [(4.43±0.68) vs. (4.41±0.67)], with no significant differences in the other dimensions between the two groups. The research group was significantly superior to the control group in all problem-solving dimensions: positive orientation [12 (10, 12) vs. 10 (9, 11)], rationality [26 (23, 28) vs. 21 (21, 24)], negative orientation [15 (13, 20) vs. 20 (17, 20)], avoidance style [17 (15, 18) vs. 19 (17, 20)], and impulsivity/neglect style [16 (15, 18) vs. 18 (16, 20)]. For rounds assessment, the research group showed significantly higher scores than the control group in all the items except " communication with patients" [(9.21±0.39) vs. (9.04±0.53)] and "patient satisfaction with nursing students" [(8.92±0.53) vs. (8.73±0.56)].Conclusions:The teaching method based on AR combined with TCD can improve nursing students' knowledge of cerebrovascular diseases, clinical nursing ability, and satisfaction with teaching.
8.Immunomodulatory mechanism of umbilical cord mesenchymal stem cells modified by miR-125b-5p in systemic lupus erythematosus
Zhihui WU ; Mingzhi HU ; Qiaoying ZHAO ; Fengfeng LV ; Jingying ZHANG ; Wei ZHANG ; Yongfu WANG ; Xiaolin SUN ; Hui WANG
Journal of Peking University(Health Sciences) 2024;56(5):860-867
Objective:To investigate the mechanism of immunomodulatory effects of umbilical cord mesenchymal stem cells(UC-MSCs)modified by miR-125b-5p on systemic lupus erythematosus(SLE).Methods:The expression level of miR-125b-5p was detected by real-time fluorescence quantitative PCR in UC-MSCs and peripheral blood mononuclear cells(PBMCs)from SLE patients and health checkers.Annexin V-FITC/PI apoptosis detection kit was used to detect the effect of miR-125b-5p on apoptosis of UC-MSCs.MRL/lpr mice in each group were injected with UC-MSCs via tail vein,and T-lymphocyte subsets in the spleen of the MRL/lpr mice were detected by flow cytometry after 5 weeks.The expression levels of interleukin(IL)-4 and IL-17A in serum of MRL/lpr mice were detected by ELISA.Hematoxylin-eosin staining was used to observe the pathological manifestations of the lungs and kidneys of the MRL/lpr mice.Results:miR-125b-5p was significantly down-regulated in PBMCs of SLE patients compared with healthy controls(P<0.01).Compared with the UC-MSCs group,the expression of miR-125b-5p in UC-MSCs modified by miR-125b-5p group was increased(P<0.01).The survival rate of UC-MSCs was significantly increased by miR-125b-5p(P<0.01).Compared with the untreated group of MRL/lpr mice,the expression level of IL-4 in serum was increased(P<0.05);the expression level of IL-17A was decreased(P<0.05);the proportion of Th17 cells in the spleen of MRL/lpr mice was decreased(P<0.05);the inflammatory cells infiltration and micro-thrombosis of lungs and kidneys of MRL/lpr mice were significantly reduced in the UC-MSCs modified by miR-125b-5p treatment group.Conclusion:UC-MSCs modified by miR-125b-5p have immunomodulatory effects on systemic lupus erythematosus.
9.Effect of Tele-exercise Interventions on Quality of Life in Cancer Patients: A Meta-analysis
Xiaoli CHEN ; Chuanmei ZHU ; Juejin LI ; Lin ZHOU ; Shu ZHANG ; Yun ZHANG ; Xiaolin HU
Asian Nursing Research 2024;18(4):348-357
Purpose:
To evaluate the impacts of tele-exercise intervention with cancer patients’ quality of life, taking into account the influence of the duration of tele-exercise intervention, type of intervention, and gender of cancer patients on quality of life.
Methods:
The PubMed (MEDLINE), Embase, CINAHL, Cochrane Central Register of Controlled Trials (CENTRAL), Web of Science, and PsycINFO databases were searched from inception to August 21, 2023. The Cochrane Collaboration's risk of bias tool 2 was utilized to estimate the risk of bias, and the Grading of Recommendations, Assessment. For statistical analyses, R Studio was employed.
Results:
This meta-analysis contained eight trials. When compared to controls, tele-exercise interventions (SMD = 0.41, 95% CI: 0.12 to 0.70, p < .010; I2 = 54%, p = .030) have a positive influence on boosting the quality of life within cancer patients. Subgroup analyses demonstrated the greater effectiveness of tele-exercise in enhancing the quality of life of cancer patients when the duration was greater than or equal to 10 weeks. Furthermore, tele-exercise was found to have a stronger advantageous effect on quality of life among female cancer. In addition, among the types of interventions for tele-exercise, neither web-based nor telephone-based formats significantly enhanced quality of life among cancer patients.
Conclusion
Tele-exercise interventions are a cost-effective and feasible non-pharmacologic complementary way to promote cancer patients' quality of life. Additional large-sample, carefully designed randomized controlled trials are warranted to further validate the impact of tele-exercise concerning cancer patients’ quality of life.
10.Effect of Tele-exercise Interventions on Quality of Life in Cancer Patients: A Meta-analysis
Xiaoli CHEN ; Chuanmei ZHU ; Juejin LI ; Lin ZHOU ; Shu ZHANG ; Yun ZHANG ; Xiaolin HU
Asian Nursing Research 2024;18(4):348-357
Purpose:
To evaluate the impacts of tele-exercise intervention with cancer patients’ quality of life, taking into account the influence of the duration of tele-exercise intervention, type of intervention, and gender of cancer patients on quality of life.
Methods:
The PubMed (MEDLINE), Embase, CINAHL, Cochrane Central Register of Controlled Trials (CENTRAL), Web of Science, and PsycINFO databases were searched from inception to August 21, 2023. The Cochrane Collaboration's risk of bias tool 2 was utilized to estimate the risk of bias, and the Grading of Recommendations, Assessment. For statistical analyses, R Studio was employed.
Results:
This meta-analysis contained eight trials. When compared to controls, tele-exercise interventions (SMD = 0.41, 95% CI: 0.12 to 0.70, p < .010; I2 = 54%, p = .030) have a positive influence on boosting the quality of life within cancer patients. Subgroup analyses demonstrated the greater effectiveness of tele-exercise in enhancing the quality of life of cancer patients when the duration was greater than or equal to 10 weeks. Furthermore, tele-exercise was found to have a stronger advantageous effect on quality of life among female cancer. In addition, among the types of interventions for tele-exercise, neither web-based nor telephone-based formats significantly enhanced quality of life among cancer patients.
Conclusion
Tele-exercise interventions are a cost-effective and feasible non-pharmacologic complementary way to promote cancer patients' quality of life. Additional large-sample, carefully designed randomized controlled trials are warranted to further validate the impact of tele-exercise concerning cancer patients’ quality of life.

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