Objective:To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies.Methods:A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children′s Medical Center (Group) in 2024 were selected as the study subject. Upon the woman′s two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51).Results:Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication.Conclusion:The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.

OBJECTIVE: To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies. METHODS: A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children's Medical Center (Group) in 2024 were selected as the study subject. Upon the woman's two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51). RESULTS: Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication. CONCLUSION The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.
Humans ; Female ; DNA Copy Number Variations/genetics* ; Preimplantation Diagnosis/methods* ; Pregnancy ; Pedigree ; Genetic Testing/methods* ; Male ; Adult ; Aneuploidy ; Chromosomes, Human, Pair 17/genetics* ; China ; East Asian People

Objective:To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies.Methods:A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children′s Medical Center (Group) in 2024 were selected as the study subject. Upon the woman′s two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51).Results:Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication.Conclusion:The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.

Nursing skill competitions are the wind vane for clinical nursing development, and the teaching concepts, proposition forms, and evaluation systems demonstrated by competitions have a strong reference value for nursing teaching. This article introduces the knowledge selection and integration from nursing-related courses according to the problems and objectives to be solved by drawing on the STEM education concept in comprehensive nursing practical training in the context of integration of competition and education. Realistic problem scenarios can be created with clinical cases as the carrier or main line, and then the Tanner clinical judgment model is used to guide students to conduct a comprehensive analysis of cases, thereby helping students to develop clinical thinking ability and comprehensive practical skills, so as to bridge the gap between the contents learned at school and nursing work in clinical practice and help nursing students adapt to clinical practice as soon as possible.

Abstract OBJECTIVE To explore the material basis and mechanism of Crataegi Fructus in improving metabolic hypertension(MH) by using network pharmacology and molecular docking technique.METHODS The components of Crataegi Fructus were collected by HERB, ETCM database and literature survey; screening all ingredients of Crataegi Fructus to improve MH targets through databases such as SwissTargetPrediction and GeneCards; build "active ingredient-target-disease" network of Crataegi Fructus with Cytoscape software; DAVID was used to analyze GO enrichment and KEGG pathway. The core components and core targets were verified by molecular docking with Autodock software. RESULTS The total of 89 active components were screened from Crataegi Fructus and acted on 84 targets. Among them, the core active components of Crataegi Fructus to improve MH were maslinic acid, fomefficinic acid B, linolenic acid, linoleic acid, methyl-n-nonylketone, apigenin, ursolic acid, etc. The core targets were CYP19A1, PPARA, ESR1, PTGS2, PPARG, NR3C1, MMP9, TNF, etc. The mechanism of action mainly involved multiple signaling pathways such as inflammation, glycolipid metabolism, and vascular endothelial function. Molecular docking showed that the core active ingredients of Crataegi Fructus had high affinity with core targets. CONCLUSION Crataegi Fructus may regulate multiple signaling pathways such as TNF, IL-17, AGE-RAGE, HIF-1, cGMP-PKG through multi-component regulation, thereby inhibiting inflammatory response, improving glucose and lipid metabolism abnormalities, and improving vascular endothelial function, so as to comprehensively exert the role of improving MH in various aspects.

Objective:To study the application effect of objective structured clinical examination (OSCE)-based situational simulation case teaching on Nursing Fundamentals practical training. Methods:Using convenient sampling method, two undergraduate nursing classes of Batch 2018 in Hubei University of Chinese Medicine were chosen as the study objects. They were divided into observation group with 45 students and control group with 43 students through ball touching method. The control group used traditional teaching method, on this basis, the observation group used OSCE-based situational simulation case teaching. At the end of the semester, the results of theoretical assessment, operational skills assessment, humanistic care, health education achievements of the two groups of nursing students and students’ evaluation of the new teaching method in the observation group. SPSS 22.0 was used for t test. Results:The sores of theoretical assessment, operational skills and humanistic care assessment in the observation group were (81.01±8.53), (92.69±3.87) and (11.73±1.59), and the corresponding sores in control group were (76.94±9.74), (91.21±2.70) and (10.79±1.36). The nursing students in the observation group had significantly higher scores than the control group in above mentioned aspects ( P<0.05). In the observation group, 45 students (100.0%) believed that this teaching method could stimulate learning interest and comprehensively deal with clinical problems, 43 students (95.6%) thought that this teaching method could improve team cooperation ability, only one person (2.2%) did not agree that this teaching method could help to form critical thinking, and 42 students (93.3%) said that the teaching hours of this teaching method could be appropriately increased. Conclusion:The OSCE-based situational simulation case teaching may effectively improve the teaching quality of the nursing students and mobilize their learning activities.

Background In recent years, the incidence of metabolic syndrome (MS) is increasing significantly in China. Some studies have found that temperature is related to single metabolic index, but there is a lack of research on associated mechanism and identifying path of the influence of temperature on MS. Objective Based on the data of Guangdong Province, to investigate the effect of temperature on MS and its pathway. Methods A total of 8524 residents were enrolled by multi-stage random sampling from October 2015 to January 2016 in Guangdong. Basic characteristics, behavioral characteristics, health status, and physical activity level were obtained through questionnaires and physical examinations, and meteorological data were obtained from meteorological monitoring sites. We matched individual data both with the temperature data of the physical examination day and of a lag of 14 d. A generalized additive model was used to explore the exposure-effect relationship between temperature and MS and its indexes, calculate effect values, and explore the effects of single-day lag temperature. Based on the literature and the results of generalized additive model analysis, a path analysis was conducted to explore the pathways of temperature influencing MS. Results The association between daily average temperature on the current day or lag 14 day and MS risk was not statistically significant. When daily average temperature increased by 1 ℃, the change values of fasting blood-glucose (FBG), systolic blood pressure (SBP), diastolic blood pressure (DBP), and high density lipoprotein cholesterol (HDL-C) were −0.033 (95%CI: −0.040-−0.026) mmol·L⁻¹, −0.662 (95%CI: −0.741-−0.583) mmHg, −0.277 (95%CI: −0.323-−0.230) mmHg, and −0.005 (95%CI: −0.007-−0.004) mmol·L⁻¹ respectively. The effects of average daily temperature on FBG, blood pressure, HDL-C, and waist circumference lasted until lag 14 day. The effects of daily average temperature on SBP and DBP were the largest on the current day. Daily average temperature of current day had direct and indirect effects on FBG and SBP. Temperature had an indirect effect on TG, and the intermediate variables were waist circumference and FBG, with an indirect effect value of −0.011 (95%CI: −0.020-−0.002). The indirect effects of daily average temperature on SBP, FBG, and TG were weak. Conclusion There is no significant correlation between temperature and risk of MS, and daily average temperature of current day could significantly affected blood pressure and FBG with a lag effect. Daily average temperature of current day has indirect effects on FBG and TG.

With the implement of long-term effective highly active antiretroviral therapy (HAART), it not only significantly improves the survival expectation of HIV-infected men, but also significantly reduces the risk of sexually transmitted infections. The combination of pre-exposure prophylaxis (PrEP) and precisely timed intercourse during easy pregnancy period significantly improves the prevention of HIV non-infected female partners from sexually transmitted infection, and has proved to be an effective way for male only HIV positive couples to conceive naturally. Using processed semen of HIV-infected men for assisted reproduction treatment, no female partner or children infection is found, which is the preferred treatment for male only HIV positive couples with decreased fertility. The quality of life and fertility desires of HIV infected people cannot be ignored.

Objective:To explore the relationship between hypoxia and fertility in female mice.Methods:Twenty-one clean-grade 14-week Kunming female mice were selected and divided into hypoxia groups ( n=11) and normoxia groups ( n=10), and raised under low oxygen concentration (10%-20.5%) and normal oxygen concentration (20.5%) respectively. Four weeks later, hypoxic mice were returned to normoxia environment. Two groups of 21 females were mated with males, the quantity of the litters and body mass at birth were recorded. These females were maintained until 43 weeks to repeat the hypoxic and mating experiments described above. Two weeks after the secondary hypoxia, mating and delivery, these female mice were sampled under anesthesia for inner canthus blood, and the blood estradiol and progesterone were measured by a Roche biochemical analyzer. The mice were put to death by giving over dosage of anesthesia drug; oocytes, ovaries and uterus tissues were obtained, for detection of reactive oxygen species of the oocytes, and HE staining of the ovaries and uterus. Results:The number of litters produced in the young hypoxia group was 13.64±3.35, which was slightly higher than that in the young normoxia group (13.22±1.92), but the difference was not significant ( P=0.734). The birth body mass of the litters in the young hypoxic group [(1.73±0.20) g] was significantly lower than that in the young normoxic group [(1.82±0.22) g, P<0.001]. The mean number of litters in the old hypoxic group (5.11±3.58) was significantly higher than that in the old normoxic group (1.38±2.56, P=0.022). Compared with 23 weeks female normoxia mice, estradiol levels decreased in both the old hypoxia and old normoxic groups ( P=0.019; P=0.035), but there was no significant difference in estradiol level between old hypoxia and old normoxic groups ( P=0.913). There was no significant difference in reactive oxygen species of the oocytes between old normoxic and old hypoxic mice ( P>0.05). Tissue HE staining showed that the old normoxic mice had obvious uterine hyperemia, and the outlook of the uterus of the old hypoxic mice was normal. The old hypoxia mice had more antral follicles than the normoxic group and the size of the follicles was more even. Conclusion:The hypoxia mice produced more offspring than the normoxia mice, however, the birth body mass of the offspring was significantly lower than that in normoxic mice. The ovaries of the old hypoxic mice contained more follicles than the old normoxic mice.

With the implement of long-term effective highly active antiretroviral therapy (HAART), it not only significantly improves the survival expectation of HIV-infected men, but also significantly reduces the risk of sexually transmitted infections. The combination of pre-exposure prophylaxis (PrEP) and precisely timed intercourse during easy pregnancy period significantly improves the prevention of HIV non-infected female partners from sexually transmitted infection, and has proved to be an effective way for male only HIV positive couples to conceive naturally. Using processed semen of HIV-infected men for assisted reproduction treatment, no female partner or children infection is found, which is the preferred treatment for male only HIV positive couples with decreased fertility. The quality of life and fertility desires of HIV infected people cannot be ignored.