Objective:To explore the genetic basis for a woman with oocyte maturation disorder during assisted reproductive treatment (ART), and to verify the source of the variant and its impact on oocyte maturation through family verification.Methods:A 35-year-old infertile woman presented at the Reproductive Medicine Center of Gansu Provincial Maternal and Child Health Care Hospital on 20 October 2023 for a 10-year history of infertility despite unprotected intercourse was selected as study subject. Peripheral venous blood sample was collected from the proband. Next-generation sequencing (NGS) was used to detect the potential variant. Candidate variants were validated within her family by Sanger sequencing, and their deleteriousness was assessed with comprehensive bioinformatic analyses to elucidate their origin and impact on oocyte maturation. According to the Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as ACMG Guidelines) formulated by the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Gansu Provincial Maternal and Child Health Care Hospital (Ethics No.: 2023GSFYLS78).Results:The proband underwent three controlled ovarian-stimulation cycles as part of assisted reproductive technology, yielding a total of 29 oocytes, among which only three were mature, whilst the remainders exhibited maturation arrest. Targeted sequencing of peripheral-blood DNA revealed a heterozygous c. 728C>T (p.P243L) missense variant of the TUBB8 gene. While the same variant was detected in the proband′s father. Based on the ACMG guidelines, the variant was classified to be likely pathogenic (PS4_Supporting+ PM2_Supporting+ PP2+ PP3+ PP4). Conclusion:The heterozygous c. 728C>T (p.P243L) missense variant of the TUBB8 gene probably underlay the oocyte maturation disorder in the proband, which may be either autosomal dominant or autosomal recessive. For probands with oocyte maturation disorders caused by the heterozygous c. 728C>T variant of the TUBB8 gene, oocyte donation may be considered.

Objective:To assess the efficacy and safety of Gongxuening Capsules in reducing post-abortion bleeding following artificial abortion.Methods:A multicenter, randomized, double-blind study was conducted. From May 31, 2022 to March 31, 2023, 484 women who underwent vacuum aspiration abortion for early intrauterine pregnancy were enrolled in 11 centers and randomly assigned to control group and the study group at a 1∶1 ratio using a center-block randomization method. Control group were administered a placebo of Gongxuening Capsules for 9 d, while the study group received the actual Gongxuening Capsules for the same duration. The outcomes measured included vaginal bleeding volume, duration of vaginal bleeding, endometrial thickness, time to menstrual recovery, and complications.Results:1) A total of 484 subjects were enrolled, and 472 completed the study. Totally 450 subjects were included in the efficacy analysis set, with 224 in control group and 226 in the study group; 468 subjects were included in the safety analysis set, with 236 in control group and 232 in the study group. The baseline characteristics of the two groups were comparable (all P>0.05). 2) The vaginal bleeding volume was lower in the study group [(13.30±12.14) mL] than in control group [(19.00±17.67) mL, P<0.001]. The proportion of subjects in the study group with bleeding days less than 4 d [29.65% (67/226)] was higher than that in control group [19.20% (43/224), P=0.010]. 3) No significant differences were observed between the two groups in terms of time to menstrual recovery and endometrial thickness (all P>0.05). 4) In the study group, 3 subjects experienced non-therapeutic-related complications, while 11 subjects in control group. The incidence of complications was lower in the study group [1.29% (3/232)] than in control group [4.66% (11/236), P=0.033]. Conclusion:The administration of Gongxuening Capsules to women following artificial abortion significantly reduced vaginal bleeding volume and was associated with good safety, with the treatment being well-tolerated by the subjects.

Vitrification is a critical embryo cryopreservation technique extensively employed in assisted reproductive technology clinical practice. Recent evidence from animal models and clinical studies indicates that vitrification may compromise embryonic developmental competence by inducing epigenetic alterations, including dysregulated DNA methylation patterns, aberrant histone modifications, and subsequent disruptions in gene expression regulation. This review systematically summarizes recent advances from both animal and human studies, highlighting molecular mechanisms underlying vitrification-induced changes in embryonic developmental potential, with particular emphasis on epigenetic and developmental consequences of repeated vitrification. The aim of this review is to provide reproductive genetic insights and theoretical references to facilitate standardized clinical application of vitrification procedures and comprehensive assessment of embryo safety.

OBJECTIVE: To explore the genetic basis for a woman with oocyte maturation disorder during assisted reproductive treatment (ART), and to verify the source of the variant and its impact on oocyte maturation through family verification. METHODS: A 35-year-old infertile woman presented at the Reproductive Medicine Center of Gansu Provincial Maternal and Child Health Care Hospital on 20 October 2023 for a 10-year history of infertility despite unprotected intercourse was selected as study subject. Peripheral venous blood sample was collected from the proband. Next-generation sequencing (NGS) was used to detect the potential variant. Candidate variants were validated within her family by Sanger sequencing, and their deleteriousness was assessed with comprehensive bioinformatic analyses to elucidate their origin and impact on oocyte maturation. According to the Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as ACMG Guidelines) formulated by the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Gansu Provincial Maternal and Child Health Care Hospital (Ethics No.: 2023GSFYLS78). RESULTS: The proband underwent three controlled ovarian-stimulation cycles as part of assisted reproductive technology, yielding a total of 29 oocytes, among which only three were mature, whilst the remainders exhibited maturation arrest. Targeted sequencing of peripheral-blood DNA revealed a heterozygous c.728C>T (p.P243L) missense variant of the TUBB8 gene. While the same variant was detected in the proband's father. Based on the ACMG guidelines, the variant was classified to be likely pathogenic (PS4_Supporting+PM2_Supporting+PP2+PP3+PP4). CONCLUSION The heterozygous c.728C>T (p.P243L) missense variant of the TUBB8 gene probably underlay the oocyte maturation disorder in the proband, which may be either autosomal dominant or autosomal recessive. For probands with oocyte maturation disorders caused by the heterozygous c.728C>T variant of the TUBB8 gene, oocyte donation may be considered.
Humans ; Female ; Adult ; Mutation, Missense ; Oocytes/metabolism* ; Heterozygote ; Tubulin/genetics* ; Infertility, Female/genetics* ; High-Throughput Nucleotide Sequencing ; Pedigree

OBJECTIVE: To investigate the clinical phenotype and genetic etiology of a patient with primary infertility accompanied by Oocyte maturation defect (OOMD). METHODS: A 24-year-old female patient who visited the Reproductive Medicine Center of Gansu Provincial Maternity and Child Care Hospital in April 2024 was selected as the study subject. Whole-exome sequencing (WES) was performed on the proband and her husband. Candidate gene variants were validated in the family using Sanger sequencing, and compound heterozygous variants were confirmed through vector construction. Candidate variants were classified for pathogenicity according to the "Standards and Guidelines for the Interpretation of Sequence Variants" established by the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of the Hospital [Ethics No.: (2023) GSFYLS(78)]. RESULTS: The proband, a 24-year-old female, had been unable to conceive for four years without contraception after marriage. She had undergone two ovarian stimulation cycles using the antagonist protocol and the PPOS protocol, respectively. A total of 74 oocytes were retrieved, with all showing OOMD and some oocytes exhibiting abnormal morphology and poor quality. WES results revealed two heterozygous missense variants in exons 14 and 16 of the PATL2 gene: c.1127G>A (p.R376Q) and c.1388C>G (p.A463G). Family validation results indicated that the missense variant in exon 14 was inherited from the proband's father, while the variant in exon 16 was de novo. CONCLUSION The compound heterozygous variants of the PATL2 gene probably underlay the OOMD and infertility in this proband. Further analysis based on the variant sites and protein structures is needed to determine whether PATL2 gene variants can fully affect oocyte development, thereby providing a personalized treatment plan for the proband.
Female ; Humans ; Young Adult ; Exome Sequencing ; Infertility, Female/genetics* ; Oocytes/metabolism* ; Pedigree ; Phenotype

Objective:To assess the efficacy and safety of Gongxuening Capsules in reducing post-abortion bleeding following artificial abortion.Methods:A multicenter, randomized, double-blind study was conducted. From May 31, 2022 to March 31, 2023, 484 women who underwent vacuum aspiration abortion for early intrauterine pregnancy were enrolled in 11 centers and randomly assigned to control group and the study group at a 1∶1 ratio using a center-block randomization method. Control group were administered a placebo of Gongxuening Capsules for 9 d, while the study group received the actual Gongxuening Capsules for the same duration. The outcomes measured included vaginal bleeding volume, duration of vaginal bleeding, endometrial thickness, time to menstrual recovery, and complications.Results:1) A total of 484 subjects were enrolled, and 472 completed the study. Totally 450 subjects were included in the efficacy analysis set, with 224 in control group and 226 in the study group; 468 subjects were included in the safety analysis set, with 236 in control group and 232 in the study group. The baseline characteristics of the two groups were comparable (all P>0.05). 2) The vaginal bleeding volume was lower in the study group [(13.30±12.14) mL] than in control group [(19.00±17.67) mL, P<0.001]. The proportion of subjects in the study group with bleeding days less than 4 d [29.65% (67/226)] was higher than that in control group [19.20% (43/224), P=0.010]. 3) No significant differences were observed between the two groups in terms of time to menstrual recovery and endometrial thickness (all P>0.05). 4) In the study group, 3 subjects experienced non-therapeutic-related complications, while 11 subjects in control group. The incidence of complications was lower in the study group [1.29% (3/232)] than in control group [4.66% (11/236), P=0.033]. Conclusion:The administration of Gongxuening Capsules to women following artificial abortion significantly reduced vaginal bleeding volume and was associated with good safety, with the treatment being well-tolerated by the subjects.

Vitrification is a critical embryo cryopreservation technique extensively employed in assisted reproductive technology clinical practice. Recent evidence from animal models and clinical studies indicates that vitrification may compromise embryonic developmental competence by inducing epigenetic alterations, including dysregulated DNA methylation patterns, aberrant histone modifications, and subsequent disruptions in gene expression regulation. This review systematically summarizes recent advances from both animal and human studies, highlighting molecular mechanisms underlying vitrification-induced changes in embryonic developmental potential, with particular emphasis on epigenetic and developmental consequences of repeated vitrification. The aim of this review is to provide reproductive genetic insights and theoretical references to facilitate standardized clinical application of vitrification procedures and comprehensive assessment of embryo safety.

Objective:To explore the genetic basis for a woman with oocyte maturation disorder during assisted reproductive treatment (ART), and to verify the source of the variant and its impact on oocyte maturation through family verification.Methods:A 35-year-old infertile woman presented at the Reproductive Medicine Center of Gansu Provincial Maternal and Child Health Care Hospital on 20 October 2023 for a 10-year history of infertility despite unprotected intercourse was selected as study subject. Peripheral venous blood sample was collected from the proband. Next-generation sequencing (NGS) was used to detect the potential variant. Candidate variants were validated within her family by Sanger sequencing, and their deleteriousness was assessed with comprehensive bioinformatic analyses to elucidate their origin and impact on oocyte maturation. According to the Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as ACMG Guidelines) formulated by the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Gansu Provincial Maternal and Child Health Care Hospital (Ethics No.: 2023GSFYLS78).Results:The proband underwent three controlled ovarian-stimulation cycles as part of assisted reproductive technology, yielding a total of 29 oocytes, among which only three were mature, whilst the remainders exhibited maturation arrest. Targeted sequencing of peripheral-blood DNA revealed a heterozygous c. 728C>T (p.P243L) missense variant of the TUBB8 gene. While the same variant was detected in the proband′s father. Based on the ACMG guidelines, the variant was classified to be likely pathogenic (PS4_Supporting+ PM2_Supporting+ PP2+ PP3+ PP4). Conclusion:The heterozygous c. 728C>T (p.P243L) missense variant of the TUBB8 gene probably underlay the oocyte maturation disorder in the proband, which may be either autosomal dominant or autosomal recessive. For probands with oocyte maturation disorders caused by the heterozygous c. 728C>T variant of the TUBB8 gene, oocyte donation may be considered.

Objective To investigate the clinical effect of respiratory trainer in the patients with acute exacerbation of chronic obstructive pulmonary disease (COPD) undergoing non-invasive positive pressure ven-tilation.Methods A total of 85 patients with COPD undergoing non-invasive positive pressure ventilation ad-mitted and treated in the Affiliated Minda Hospital of Hubei Nationalities University during 2019-2023 were selected as the study subjects and divided into the experiment group and the control group through random number table method.The control group adopted the symptomatic and supportive treatment such as routine non-invasive positive pressure ventilation,anti-infection,preparation aspiration for spasmolysis and eliminating phlegm,while on the base of the control group,the experiment group adopted respiratory trainer (K5) for re-spiratory training each once in the morning and at night.The differences in the related indexes were compared between the two groups.Results The percentage of forced expiratory volume in the first second (FEV1％),forced expiratory volume in 1 second/forced lung capacity (FEV1/FVC),COPD assessment test (CAT) score,modified Medical Research Council Dyspnea Scale (mMRC) score,6-min walking distance (6MWD),SGRQ score,maximum inspiratory pressure (MIP),maximum expiratory pressure (MEP),partial pressure of carbon dioxide (PaCO2) and PaO2 on 3,7 d after treatment in both groups had statistically significant differ-ence compared with before treatment (P<0.05),and the improvement of the above indicators in the experi-ment group was more significant compared with the control group (P<0.05).Conclusion Respiratory train-er could improve the clinical effect and pulmonary ventilation function in the patients with acute exacerbation of COPD undergoing non-invasive positive pressure ventilation.

Objective:To explore the genetic basis for a patient with repeated fertilization failure during assisted reproductive therapy, and to identify the source and mode of mutation.Methods:A couple treated at the Center for Reproductive Medicine, Gansu Provincial Maternal and Child Health Care Hospital in January 2024 for infertility with incomplete left tube obstruction was selected as the study subject. Relevant clinical data was collected. The couple was subjected to whole exome sequencing (WES), and the candidate variant was verified by Sanger sequencing of their family members and bioinformatic analysis. The study has been approved by the the Center for Reproductive Medicine, Gansu Provincial Maternal and Child Health Care Hospital(Ethic No.2023GSFYLS78).Results:WES has identified a homozygous c. 495del frameshifting mutation of the WEE2 gene in the female partner, whilst no relevant variant was suspected in the male partner. The elder brother of the female partner was homozygous for the above variant, while her parents, aunts, uncle, grandmother, and grandmother were heterozygous for it. Based on the guidelines from the American College of Medical Genetics and Genomics, above variant was rated to be pathogenic. Conclusion:The homozygous c. 495del frameshifting mutation of the WEE2 gene probably underlay the oocyte fertilization disorder in this couple.