OBJECTIVE: To investigate the characteristics of chromosomal abnormalities in amniotic fluid among pregnant women in Liangshan Prefecture and explore strategies for optimizing prenatal diagnosis. METHODS: A retrospective analysis was conducted on 1 024 amniocentesis samples collected at the Prenatal Diagnosis Center of Liangshan Prefecture Maternal and Child Health Care Hospital between February 2022 and December 2024. Chromosome karyotyping analysis (3 cases had failed culture, 1 021 valid samples) was combined with high-throughput chromosome sequencing analysis (CNV-seq) for the detection. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-07). RESULTS: The overall detection rate of chromosomal karyotype abnormalities in the amniotic fluid cells was 4.02% (41/1 021), with numerical abnormalities accounting for 80.49% (33/41) and structural abnormalities for 19.51% (8/41). Numerical abnormalities were primarily trisomy 21 (16/41, 39.02%) and 47,XXY (6/41, 14.63%). Structural abnormalities included translocations (6 cases) and mosaicism (2 cases). CNV-seq detected 22 pathogenic or likely pathogenic copy number variations, whilst the undetection rate for balanced translocations reached 100% (7/7). The combined application of karyotyping and CNV-seq, leveraging complementary strengths, can enhance the overall detection rate. CONCLUSION The distribution characteristics of chromosomal abnormalities in amniotic fluid from pregnant women in Liangshan exhibit regional specificity. A combined testing strategy significantly optimizes prenatal diagnosis efficacy, providing crucial evidence for enhancing the effectiveness of prenatal diagnosis in ethnic minority regions.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Aberrations ; Retrospective Studies ; Adult ; Amniotic Fluid ; Karyotyping ; Amniocentesis ; Chromosome Disorders/genetics* ; China ; High-Throughput Nucleotide Sequencing ; DNA Copy Number Variations/genetics*

Objective:To identify the risk factors of venous thromboembolism (VTE) in postoperative renal transplantation recipients by Meta-analysis, and to provide evidence-based reference for clinical staff to develop early VTE prevention strategies.Methods:PubMed, Web of Science, Cochrane Library, Embase, China National Knowledge Infrastructure, VIP database, Wanfang database and Chinese Biomedical Literature Database were searched to collect the studies on the risk factors of postoperative VTE in kidney transplant recipients. The search period was from the establishment of the database to March 10, 2024. After literature screening, data extraction and quality evaluation were conducted independently by two researchers, Meta-analysis was performed using RevMan 5.3 software.Results:A total of 15 literatures with 20 influencing factors were included. Meta-analysis showed that age ( MD = 6.36, 95% CI 2.56-10.17, P<0.05), body mass index ( MD = 1.83, 95% CI 0.15-3.50, P<0.05), VTE history ( OR = 2.04, 95% CI 1.08-3.86, P<0.05), blood transfusion history ( OR = 3.77, 95% CI 2.43-5.83, P<0.05), glomerular filtration rate ( MD = -5.54, 95% CI -9.93 - -0.91, P<0.05), donor age ( MD = 3.18, 95% CI 1.10-5.25, P<0.05), combination of malignant tumor ( OR = 2.87, 95% CI 1.45-5.68, P<0.05), end-stage renal disease as polycystic kidney disease ( OR = 1.76, 95% CI 1.39-2.22, P<0.05), and interstitial nephritis ( OR = 1.60, 95% CI 1.06-2.40, P<0.05) were the influencing factors for postoperative VTE in renal transplant recipients. Conclusions:Clinical medical staff should actively identify high-risk groups for VTE after kidney transplantation by considering the 8 influencing factors determined by this study, and take targeted measures early to reduce the risk of postoperative VTE.

OBJECTIVE: To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation. METHODS: A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members. Mature MII oocytes were inseminated by intracytoplasmic sperm injection (ICSI), cultured in vitro for 5 to 6 days to the blastocyst stage, and trophoblastocytes were obtained by microbiopsy. Mitochondrial DNA testing (PGT-MT) and chromosomal aneuploidy (PGT-A) analyses were carried out after whole-genome amplification, and the embryos with zero mutation load were selected for transfer. Amniotic fluid and umbilical cord blood samples were collected during middle pregnancy and after birth respectively for mitochondrial DNA testing to verify the reliability of embryo screening. As an attempt, PB1 with good morphology of MII oocytes was selected for transfer into the enucleated oocytoplasm from healthy donors, followed by ICSI fertilization, blastocyst culture and PGT of embryos using the same procedure. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Anhui Medical University (No. 2021zhyx-B12). RESULTS: An antagonist protocol was used for ovarian stimulation, and a total of 19 oocytes were obtained, of which 14 MII were fertilized by ICSI, and 2 had developed into blastocysts. PGT-MT was carried out on biopsied trophoblastocytes, in which the mitochondrial DNA 8993T>G mutation load was not detected in one embryo, the other was 100% mutated, and the mutation loads of the remaining unfertilized eggs and developmentally arrested embryos ranged from 0% ~ 100%, presenting a clear biased distribution. With fully informed consent, one PGT-MT zero mutation load blastocyst was transferred and clinical pregnancy was achieved. Mitochondrial DNA and chromosomal testing of amniotic fluid cells during middle pregnancy had revealed no abnormalities. The proband had delivered a healthy boy through Caesarean section at 39⁺⁵ weeks of gestation, and no mutation was detected in the cord blood sample. Five well-formed PBs from 14 eggs were selected for PB1 transfer, followed by ICSI and culture, and two of the reconstituted embryos had formed blastocysts, with none of the above mutations detected in the biopsied samples. CONCLUSION The PGT-MT technology can help families affected with mitochondrial diseases to have healthy offspring. PB1 transfer in combination with ICSI and PGT-MT holds the promise of turning waste into treasure and providing an alternative means of fertility for such families.
Humans ; Preimplantation Diagnosis/methods* ; Female ; DNA, Mitochondrial/genetics* ; Genetic Testing/methods* ; Pregnancy ; Mitochondrial Diseases/genetics* ; Polar Bodies ; Adult ; Feasibility Studies ; Sperm Injections, Intracytoplasmic/methods* ; Embryo Transfer/methods* ; Mutation ; Male ; Blastocyst/metabolism* ; Pedigree

Objective:To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation.Methods:A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members. Mature MII oocytes were inseminated by intracytoplasmic sperm injection (ICSI), cultured in vitro for 5 to 6 days to the blastocyst stage, and trophoblastocytes were obtained by microbiopsy. Mitochondrial DNA testing (PGT-MT) and chromosomal aneuploidy (PGT-A) analyses were carried out after whole-genome amplification, and the embryos with zero mutation load were selected for transfer. Amniotic fluid and umbilical cord blood samples were collected during middle pregnancy and after birth respectively for mitochondrial DNA testing to verify the reliability of embryo screening. As an attempt, PB1 with good morphology of MⅡ oocytes was selected for transfer into the enucleated oocytoplasm from healthy donors, followed by ICSI fertilization, blastocyst culture and PGT of embryos using the same procedure. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Anhui Medical University (No. 2021zhyx-B12). Results:An antagonist protocol was used for ovarian stimulation, and a total of 19 oocytes were obtained, of which 14 MⅡ were fertilized by ICSI, and 2 had developed into blastocysts. PGT-MT was carried out on biopsied trophoblastocytes, in which the mitochondrial DNA 8993T>G mutation load was not detected in one embryo, the other was 100% mutated, and the mutation loads of the remaining unfertilized eggs and developmentally arrested embryos ranged from 0% ~ 100%, presenting a clear biased distribution. With fully informed consent, one PGT-MT zero mutation load blastocyst was transferred and clinical pregnancy was achieved. Mitochondrial DNA and chromosomal testing of amniotic fluid cells during middle pregnancy had revealed no abnormalities. The proband had delivered a healthy boy through Caesarean section at 39+ 5 weeks of gestation, and no mutation was detected in the cord blood sample. Five well-formed PBs from 14 eggs were selected for PB1 transfer, followed by ICSI and culture, and two of the reconstituted embryos had formed blastocysts, with none of the above mutations detected in the biopsied samples.Conclusion:The PGT-MT technology can help families affected with mitochondrial diseases to have healthy offspring. PB1 transfer in combination with ICSI and PGT-MT holds the promise of turning waste into treasure and providing an alternative means of fertility for such families.

Objective:To explore the categories and characteristics of health behaviors of community residents in Dongfang City, Hainan Province, and to analyze the influencing factors of different categories.Methods:From March to May 2023, 795 community residents of Dongfang City were selected for the study using a simple random sampling method. General Information Questionnaire, Chinese version Short of Health Promotion Lifestyle Profile-Ⅱ, Health Conception Scale, and Self-rated Abilities for Health Practice Scale were used to conduct the survey. Cluster analysis was used to explore the health behavior categories of community residents, and a decision tree model was applied to analyze the influencing factors of different categories.Results:A total of 830 questionnaires were distributed, and 795 valid questionnaires were recovered, with a valid recovery rate of 95.78%. The health behaviors of 795 community residents in Dongfang City were divided into four categories of comprehensive behavior group (26.04%, 207/795), healthy behavior group (37.23%, 296/795), risky behavior group (18.99%, 151/795), and poor health behavior group (17.74%, 141/795). The decision tree model showed that exercise efficacy, gender, ethnicity, and clinical health concepts were the factors influencing different health behavior categories of community residents in Dongfang City ( P<0.05), with exercise efficacy being the core factor. Conclusions:There is heterogeneity in the health behavior of community residents in Dongfang City. Community healthcare workers can implement targeted health promotion measures according to the behavioral characteristics of the population.

Objective:To identify the risk factors of venous thromboembolism (VTE) in postoperative renal transplantation recipients by Meta-analysis, and to provide evidence-based reference for clinical staff to develop early VTE prevention strategies.Methods:PubMed, Web of Science, Cochrane Library, Embase, China National Knowledge Infrastructure, VIP database, Wanfang database and Chinese Biomedical Literature Database were searched to collect the studies on the risk factors of postoperative VTE in kidney transplant recipients. The search period was from the establishment of the database to March 10, 2024. After literature screening, data extraction and quality evaluation were conducted independently by two researchers, Meta-analysis was performed using RevMan 5.3 software.Results:A total of 15 literatures with 20 influencing factors were included. Meta-analysis showed that age ( MD = 6.36, 95% CI 2.56-10.17, P<0.05), body mass index ( MD = 1.83, 95% CI 0.15-3.50, P<0.05), VTE history ( OR = 2.04, 95% CI 1.08-3.86, P<0.05), blood transfusion history ( OR = 3.77, 95% CI 2.43-5.83, P<0.05), glomerular filtration rate ( MD = -5.54, 95% CI -9.93 - -0.91, P<0.05), donor age ( MD = 3.18, 95% CI 1.10-5.25, P<0.05), combination of malignant tumor ( OR = 2.87, 95% CI 1.45-5.68, P<0.05), end-stage renal disease as polycystic kidney disease ( OR = 1.76, 95% CI 1.39-2.22, P<0.05), and interstitial nephritis ( OR = 1.60, 95% CI 1.06-2.40, P<0.05) were the influencing factors for postoperative VTE in renal transplant recipients. Conclusions:Clinical medical staff should actively identify high-risk groups for VTE after kidney transplantation by considering the 8 influencing factors determined by this study, and take targeted measures early to reduce the risk of postoperative VTE.

Objective:To explore the categories and characteristics of health behaviors of community residents in Dongfang City, Hainan Province, and to analyze the influencing factors of different categories.Methods:From March to May 2023, 795 community residents of Dongfang City were selected for the study using a simple random sampling method. General Information Questionnaire, Chinese version Short of Health Promotion Lifestyle Profile-Ⅱ, Health Conception Scale, and Self-rated Abilities for Health Practice Scale were used to conduct the survey. Cluster analysis was used to explore the health behavior categories of community residents, and a decision tree model was applied to analyze the influencing factors of different categories.Results:A total of 830 questionnaires were distributed, and 795 valid questionnaires were recovered, with a valid recovery rate of 95.78%. The health behaviors of 795 community residents in Dongfang City were divided into four categories of comprehensive behavior group (26.04%, 207/795), healthy behavior group (37.23%, 296/795), risky behavior group (18.99%, 151/795), and poor health behavior group (17.74%, 141/795). The decision tree model showed that exercise efficacy, gender, ethnicity, and clinical health concepts were the factors influencing different health behavior categories of community residents in Dongfang City ( P<0.05), with exercise efficacy being the core factor. Conclusions:There is heterogeneity in the health behavior of community residents in Dongfang City. Community healthcare workers can implement targeted health promotion measures according to the behavioral characteristics of the population.

Objective:To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation.Methods:A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members. Mature MII oocytes were inseminated by intracytoplasmic sperm injection (ICSI), cultured in vitro for 5 to 6 days to the blastocyst stage, and trophoblastocytes were obtained by microbiopsy. Mitochondrial DNA testing (PGT-MT) and chromosomal aneuploidy (PGT-A) analyses were carried out after whole-genome amplification, and the embryos with zero mutation load were selected for transfer. Amniotic fluid and umbilical cord blood samples were collected during middle pregnancy and after birth respectively for mitochondrial DNA testing to verify the reliability of embryo screening. As an attempt, PB1 with good morphology of MⅡ oocytes was selected for transfer into the enucleated oocytoplasm from healthy donors, followed by ICSI fertilization, blastocyst culture and PGT of embryos using the same procedure. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Anhui Medical University (No. 2021zhyx-B12). Results:An antagonist protocol was used for ovarian stimulation, and a total of 19 oocytes were obtained, of which 14 MⅡ were fertilized by ICSI, and 2 had developed into blastocysts. PGT-MT was carried out on biopsied trophoblastocytes, in which the mitochondrial DNA 8993T>G mutation load was not detected in one embryo, the other was 100% mutated, and the mutation loads of the remaining unfertilized eggs and developmentally arrested embryos ranged from 0% ~ 100%, presenting a clear biased distribution. With fully informed consent, one PGT-MT zero mutation load blastocyst was transferred and clinical pregnancy was achieved. Mitochondrial DNA and chromosomal testing of amniotic fluid cells during middle pregnancy had revealed no abnormalities. The proband had delivered a healthy boy through Caesarean section at 39+ 5 weeks of gestation, and no mutation was detected in the cord blood sample. Five well-formed PBs from 14 eggs were selected for PB1 transfer, followed by ICSI and culture, and two of the reconstituted embryos had formed blastocysts, with none of the above mutations detected in the biopsied samples.Conclusion:The PGT-MT technology can help families affected with mitochondrial diseases to have healthy offspring. PB1 transfer in combination with ICSI and PGT-MT holds the promise of turning waste into treasure and providing an alternative means of fertility for such families.

Chaihu Jia Longgu Muli Decoction can effectively improve the sleep quality of perimenopausal insomnia patients, reduce negative emotions, regulate the neuroendocrine system, improve the other perimenopausal symptoms, and has higher safety. Chaihu Jia Longgu Muli Decoction can play a role in perimenopausal insomnia by correcting hormone levels, regulating a variety of neurotransmitters and cytokines, regulating intestinal flora and other ways.

Objective:To exlplore the association between the baseline luteinizing hormone/follicle stimulating hormone (LH/FSH) ratio of polycystic ovary syndrome (PCOS) and in vitro fertilisation-embryo transfer outcomes.Methods:This was a retrospective cohort study. A total of 2 868 PCOS patients were enrolled, all of the participants were patients in The First Affiliated Hospital of Anhui Medical University Hospital from October 2015 to October 2021. Propensity score matching (1∶2.5) was conducted to regulate the non-random allocation of patients. Data were extracted from the hospital′s medical records. Patients with baseline LH/FSH ratio>2 were deemed as study group, patients with baseline LH/FSH ratio≤2 were deemed as control group. Single factor analysis was applied to compare the differences of pregnancy outcomes between two groups.Results:After propensity score matching (1∶2.5), there were no statistically significant differences in baseline data between the two groups (all P>0.05), indicating that the data were comparable. In the study group, the total dose of gonadotropin (Gn) and duration of Gn were lower than those of the control group ( t=4.989, P<0.001; t=3.267, P=0.001), the rate of in vitro maturation was higher than that of the control group ( χ2=4.938, P=0.026), the number of retrieved oocytes and cleavage were higher than those of the control group ( t=-2.305, P=0.021; t=-2.816, P=0.005), but there were no differences in the number and rate of high-quality embryos between the two groups ( t=-1.636, P=0.102; t=-0.123, P=0.902). The incidence of moderate to severe ovarian hyperstimulation syndrome in the study group was significantly higher than that in the control group ( χ2=17.277, P<0.001). Regardless of fresh embryo transfer or frozen-thawed embryo transfer cycles, the incidences of gestational diabetes mellitus in the study group were higher than those in the control group ( χ2=9.174, P=0.002; χ2=4.204, P=0.040) of singleton pregnancy. In the fresh embryo transfer cycle, the clinical pregnancy rate [30.30% (20/66) vs 47.75% (53/111)] and delivery rate [30.30% (20/66) vs 46.85% (52/111)] in the study group were lower than those in the control group ( χ2=5.198, P=0.023; χ2=4.695, P=0.030). In the frozen-thawed embryo transfer cycle, the delivery rate in the study group was higer than that in the control group [59.41% (423/712) vs 55.04% (1 053/1 913); χ2=7.526, P=0.023]. The clinical pregnancy rate and delivery rate of fresh embryo transfer cycle in the study group were significantly lower than those of frozen-thawed embryo transfer cycle ( χ2=21.308, P<0.001; χ2=20.871, P<0.001), but there were no significant differences in the control group (all P>0.05). Conclusions:PCOS patients with a higher basal LH/FSH ratio are more likely to develop moderate to severe ovarian hyperstimulation syndrome after controlled ovarian stimulation and have a higher incidence of gestational diabetes mellitus. Better pregnancy outcome could be obtained by frozen-thawed embryo transfer.