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.

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.

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.

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.

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.

Spinal surgical site infection (SSI), especially deep SSI after internal fixation is difficult in treatment, with long course of disease and poor prognosis. At present, there are many controversies in the diagnosis and treatment of spinal SSI, with unsatisfactory overall efficacy of its diagnosis and treatment. Besides, no diagnosis and treatment guideline based on evidence-based medicine has been in existence. To this end, the Spinal Infection Group of the Orthopedic Branch of the Chinese Medical Doctor Association and the Spinal Infection Group of the Spinal Surgery Branch of the Chinese Rehabilitation Medicine Association jointly organized relevant experts to formulate Evidence-based clinical guideline for the diagnosis and treatment of surgical site infection in spinal trauma ( version 2024) based on an evidence-based approach. A total of 10 recommendations were proposed on the diagnosis and treatment of spinal SSI, so as to provide a clinical reference for the diagnosis and treatment of spinal SSI.

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.

Objective:To explore the clinical effect of magnetic resonance imaging (MRI) or ultrasound-guided high intensity focused ultrasound (HIFU) ablation in the treatment of uterine fibroids.Methods:The clinical data of 124 patients with uterine fibroids who received HIFU ablation in the Department of Obstetrics and Gynecology of Xi'an People's Hospital were retrospectively analyzed from April 2020 to February 2023. The patients were divided into an MRI group (58 cases treated with magnetic resonance guided HIFU ablation) and an ultrasound group (66 cases treated with ultrasound guided HIFU ablation) according to different guidance methods. The treatment effects (total effective rate, fibroid ablation volume, fibroid ablation rate), surgical conditions (total energy consumption, total time consumption, energy efficiency factor, irradiation time), incidence of adverse events, ovarian function (follicle stimulating hormone (FSH), inhibin) at 3 months before and after surgery were compared between the two groups. B. Antral follicle count (AFC) and recurrence at 6 and 12 months after surgery. The t-test is used for comparing between groups of metric data that conform to normal distribution, and the chi square test is used for comparing between groups of count data.Results:The total energy consumption, total time consumption and irradiation time in MRI group were longer than those in ultrasound group( (571.68±184.31) kJ vs (494.82±155.03) kJ, (186.21±36.19) min vs (121.63±31.09) min, (26.12±7.93) min vs (22.07±7.46) min), there were have statistical differences( t values were 2.52, 10.69, and 2.93, respectively; P values were 0.013, <0.001, and 0.004, respectively). At 3 months after surgery, the level of FSH in the two groups was risen than that before surgery(MRI group (10.27±1.72) U/L vs (8.67±1.63) U/L, ultrasound group (10.13±1.66) U/L vs (8.46±1.57) U/L), the level of INHB and the number of AFC were declined (MRI group (40.46±5.31) ng/L vs (47.19±4.24) ng/L, (4.22±1.21) vs (6.72±1.48); ultrasound group (39.07±5.12) ng/L vs (48.20±4.77) ng/L, (4.11±1.09) vs (6.63±1.41)) there were have statistical differences ( t values were 5.14, 5.94, 7.54, 9.96, 10.60, and 11.48, respectively; all P<0.001). Conclusion:Both methods of guided HIFU ablation for uterine fibroids can effectively ablate fibroids and improve ovarian function, with safety. Ultrasound guidance has a shorter treatment time and less energy consumption compared to MRI guidance.

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.

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.