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Table of Content

    15 March 2024, Volume 43 Issue 2
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    Original Article
    Case Report
    Review
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    Original Article
    Study on the Vaginal Microbiota in Patients with Repeated Implantation Failure
    ZHANG Rong-xue, WANG Miao-miao, JIA Yuan-yuan, XUE Hui-ying
    2024, 43 (2):  89-94.  doi: 10.12280/gjszjk.20230430
    Abstract ( 327 )   HTML ( 43 )   PDF (1760KB) ( 169 )  

    Objective: To explore the characteristics of vaginal microbiota in patients with repeated implantation failure (RIF). Methods: A total of 49 patients undergoing the frozen-thawed embryo transfer (FET) cycles were recruited. In the observation group, patients (n=29) with a history of RIF have failed pregnancy during the FET cycles. In the control group, patients (n=20) underwent the FET for the first time and achieved clinical pregnancy. In both groups, artificial hormone cycles were performed, and the top-quality blastocysts cultured on Day 5 were tranferred. Vaginal samples were collected on the FET day. Microbial diversity, microbial community composition and differential bacterial genera between the two groups were analyzed by 16S rRNA sequencing. The receiver operating characteristic (ROC) curve was used to analyze the diagnostic efficacy of the abundance of Lactobacillus for RIF. Results: The α diversity analysis showed that the microbial diversity (Shannon: P=0.049 8) and richness (Chao: P=0.047 1) of the observation group were significantly higher than those of the control group. The β diversity analysis showed that there was significant difference in the vaginal microbial community composition between the two groups (P=0.016). At the genus level, Lactobacillus was dominant in both groups. The abundance of Lactobacillus of the observation group was significantly lower than that of the control group, while the abundances of Acinetobacter and Pseudomonas of the observation group were significantly higher than those of the control group (LDA>3, P<0.05). The optimal cutoff value for diagnosing RIF with the abundance of Lactobacillus was 70%, and the area under curve (AUC) was 0.77. Conclusions: Vaginal microbiota was showed differences in RIF patients, including the decreased abundances of Lactobacillus. The low abundance of vaginal Lactobacillus may be related with the pathogenesis of RIF.

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    Etiological Genetics Diagnosis of Fetal Craniofacial Malformations Using Chromosomal Microarray Analysis
    ZHUANG Jian-long, XU Wei-xiong, CHEN Wen-li, JIANG Yu-ying
    2024, 43 (2):  95-100.  doi: 10.12280/gjszjk.20230489
    Abstract ( 359 )   HTML ( 25 )   PDF (3151KB) ( 187 )  

    Objective: To explore the etiological genetics diagnosis of fetuses with craniofacial malformations (CFMs) using chromosomal microarray analysis (CMA). Methods: Enrolled in this study were 72 pregnancies with fetal CFMs who came to Quanzhou Women′s and Children′s Hospial for etiology diagnosis from January 2017 to March 2023. Among them, 46 cases had the isolated CFMs and 26 cases also had other structural anomalies. In addition, 45 cases performed amniocentesis and carried out karyotype analysis and CMA, and the rest 27 cases only conducted CMA using fetal abortive tissue. Results: In the 45 cases that performed karyotype analysis, a trisomy 18 and a 47,XXY were diagnosed, with an abnormal detection rate of 4.44% (2/45). In the total 72 enrolled subjects that conducted CMA, 4 cases of aneuploid, 3 cases of pathogenic copy number variants (pCNVs), and 11 cases of variants of unknown significance were diagnosed, with an abnormal detection rate of 9.72% (7/72). In addition, the sub-group study indicated that the abnormal detection rate in the non-isolated CFMs group was significantly higher than that in the isolated CFMs group (26.92% vs. 0.00%,P<0.001). Conclusions: For those fetuses with CFMs indicated by prenatal ultrasound, the subsequent CMA would be helpful to clarify the genetic etiology of CFMs.

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    Visual Analysis of Correlative Studies on Prediction Model of Early-Onset Preeclampsia Based on Knowledge Graph
    LIN Kai-xuan, WEN Hao, YANG Fu-yan
    2024, 43 (2):  101-107.  doi: 10.12280/gjszjk.20240054
    Abstract ( 321 )   HTML ( 21 )   PDF (6606KB) ( 179 )  

    Objective: To visually analyze the prediction model of early-onset preeclampsia based on the knowledge map drawn by CiteSpace software. Methods: CNKI, Wanfang, VIP, PubMed and Web of Science (WoS) databases from January 1st, 2004 to December 31st, 2023, were searched on the relevant research on the prediction model of early-onset preeclampsia. CiteSpace software was used to visually analyze the authors, institutions and keywords of the literature. Logarithmic likelihood rate (LLR) clustering is used to perform cluster analysis on Chinese and English data keywords. Results: A total of 693 articles were included, including 327 articles in Chinese and 366 in English. The number of published studies on the prediction of early-onset preeclampsia at home and abroad was generally on the rise. The cooperation between authors and institutions of the English literature database was relatively close, while the cooperation between authors and institutions of the Chinese literature database was relatively scattered. Two clusters were obtained from Chinese literatures, which were early onset and prediction. Seven clusters were obtained from English literatures. which were DNA methylation, early pregnancy screening, early onset preeclampsia, oxidative stress, multiple immunoassay, fetal body mass estimation and HELLP syndrome. The outburst word analysis showed that the Chinese literature database mainly focused on the analysis of clinical characteristics and treatment strategies of early-onset preeclampsia in 2019 and before, and focused on the construction of prediction models using traditional markers of eclampsia in 2020 and after. The English literature database mainly focused on the independent risk factors of early-onset preeclampsia, not only including maternal factors (history of onset preeclampsia, gestational hypertension, fetal growth restriction, etc.), traditional markers (uterine artery Doppler ultrasound, biochemical markers, vascular growth factor, placental growth factor, etc.) and other clinically reliable and practical specific indicators, but also using some specific indicators of immunity, DNA methylation, oxidative stress that could be widely used in future clinical practice. In this paper, a model was built for predicting the occurrence of early-onset preeclampsia, based on the traditional statistical methods and innovative integration of machine learning algorithms. Conclusions: At present, the construction of predictive models for the onset of early-onset preeclampsia is still a research hotspot at home and abroad. To discover the specific indicators will further enhance the reliability of the predictive models constructed under the background of fusion machine learning algorithms.

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    Case Report
    Fetus with Hydrocephalus and Walker-Warburg Syndrome: A Case Report
    ZHOU Jia-yan, DONG Hai-wei, SHI Yun-fang
    2024, 43 (2):  108-110.  doi: 10.12280/gjszjk.20230338
    Abstract ( 375 )   HTML ( 29 )   PDF (400KB) ( 177 )  

    A family with a case of two times of fetal hydrocephalus pregnancies was reported. The genetic etiology was analyzed by single nucleotide polymorphism array (SNP array) and whole-exome sequencing (WES). No pathogenic and likely pathogenic copy number variants were found from SNP array. The fetal was found to harbor a likely pathogenic c.287A>G mutation in exon 2 of POMT2 gene from the father and a pathogenic c.1362G>A mutation in exon 13 of POMT2 gene from the mother. The fetal carried the compound heterozygous mutations of POMT2 gene and so was diagnosed with Walker-Warburg syndrome (WWS). For a family with recurrent fetal hydrocephalus while excluding pathogenic and likely pathogenic copy number variants of fetal chromosome, WES is available with a view to identify the genetic etiology and to provid genetic data for reproduction.

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    Prune Belly Syndrome: A Case Report and Literature Review
    WANG Min, XU Fei-xue
    2024, 43 (2):  111-114.  doi: 10.12280/gjszjk.20230269
    Abstract ( 388 )   HTML ( 21 )   PDF (767KB) ( 172 )  

    We report a case in which prune belly syndrome (PBS) was detected by ultrasound examination at 13 weeks of gestation. The woman was pregnant for the first time and had no related genetic history in her family. No obvious abnormality was found by examination before 12 weeks of gestation. The fetal bladder was enlarged and protruded in the abdominal wall detected by ultrasound examination at 12 weeks of gestation. After 2 weeks, the fetal heart beat disappeared and the labor was induced. At present, the etiology and pathogenesis of PBS have not been specifically clarified. It is mostly considered that PBS could be caused by severe bladder outlet obstruction or mesoderm developmental defects secondary to 6 to 10 weeks of pregnancy. This case was analyzed and relevant literatures were reviewed in this paper. To discuss the etiology, pathogenesis, clinical manifestations and treatment of PBS will provide us more references for the clinical understanding, multidisciplinary management and individualized treatment of PBS.

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    A Case of Limb-Girdle Muscular Dystrophy Type 2B
    ZHAO Qian, LIU Wan-chen, GUO Yuan-yuan, ZHU Shao-hua, HAO Sheng-ju, ZHOU Bing-bo
    2024, 43 (2):  115-117.  doi: 10.12280/gjszjk.20230320
    Abstract ( 373 )   HTML ( 17 )   PDF (3742KB) ( 170 )  

    Limb-girdle type muscular dystrophy is a group of muscle myopathies with the progressive muscle change mainly in the pelvic girdle and shoulder girdle. It often occurs in childhood with obvious genetic heterogeneity. We reported a case of limb-girdle type muscular dystrophy that a child was diagnosed firstly as bronchopneumonia. The whole exome sequencing technology was used to screen the variant sites of related genes, Sanger sequencing technology was used to analyze and verify the suspected variant sites. The child was found to have the compound heterozygous mutations of DYSF gene (NM_003494), a c.2974T>C(p.W992R) mutation in exon 12 and a c.1169A>G(p.D390G) mutation in exon 28. The locus c.2974T>C(p.W992R) was inherited from the father, and the locus c.1169A>G(p.D390G) from the mother. Both variants were the truncating variants (PVS1). They were not included in the gene database of normal population, so they were rare variants (PM2_Supporting). Therefore, both variants were assessed as the likely pathogenic variants. The validation results of Sanger sequencing were consistent with the results of whole exome sequencing. Accordingly, the child was finally diagnosed as limb-girdle muscular dystrophy type 2B. Whole exome sequencing technology can provide genetic analysis and prenatal diagnosis for limb-girdle type muscular dystrophy, and has key value in clinical decision-making, genetic counseling and re-pregnancy planning.

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    Didelphic Uterus Combined with Ovarian Pregnancy:A Case Report
    GU Xu-zhao, SHEN Hao-fei, GAO Min, LIU A-hui, WANG Na, YANG Wen-jing, ZHANG Xue-hong
    2024, 43 (2):  118-120.  doi: 10.12280/gjszjk.20230272
    Abstract ( 399 )   HTML ( 26 )   PDF (5361KB) ( 175 )  

    Didelphic uterus are caused by Müllerian tube fusion failure that eventually form two uterine cavities, which is one of the rarest uterine malformations. Women with Müllerian anomalies may increase the incidence of perinatal complications and adverse outcomes of pregnancy. If Müllerian anomalies are found during pregnancy, the type of abnormality should be identified promptly, the impact on the mother and fetus should be assessed, and the frequency of prenatal care should be appropriately increased. Ovarian pregnancy as a rare ectopic gestation is often difficult to diagnose before surgery. Ovarian pregnancy seemingly has no logical relationship with the didelphic uterus. The high risk factors of ovarian pregnancy may include intrauterine device, assisted reproductive technology (ART) and intrauterine surgery history. A case of ovarian pregnancy in a woman with didelphic uterus after ART was reviewed, and the possible causes of ovarian pregnancy were summarized and analyzed. Single embryo transfer should be considered as the best transplantation strategy for those patients with didelphic uterus. Women of childbearing age should undergo a thorough pelvic examination before ART in order to make early diagnosis and proper management of congenital uterine abnormalities.

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    A Case Report of MRKH Syndrome Complicated with Ovarian Malignant Tumor
    OU Xiao-yu, ZENG Yu-hua, CHEN Yan-fen, XIE Lin-ling, ZENG Lei, LU Ru-ling
    2024, 43 (2):  121-126.  doi: 10.12280/gjszjk.20230454
    Abstract ( 401 )   HTML ( 32 )   PDF (3898KB) ( 174 )  

    Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder of female reproductive development, resulting in vaginal aplasia and uterine hypoplasia. Patients with MRKH syndrome are at the risk of pelvic complications. Due to the low incidence and limited treatment experience, MRKH syndrome is prone to be misdiagnosed. A case of MRKH syndrome complicated with giant ovarian plasma papillary carcinoma was presented. The patient with MRKH syndrome usually has normal structure of ovary, that is why gynecologists should be more alerted to the risk of ovarian pathology. Preoperative MRI can improve the diagnostic sensitivity, and laparoscopic surgery can clarify the pelvis and reduce surgical injuries. In young patients with ovarian cancer, preservation of the healthy ovary can be considered to ensure endogenous hormones, while resection of the stumpy uterus can be recommended to reduce the risk of lesions. In this case, the liver function after operation was obviously abnormal, and noladex was finally given to inhibit the ovarian function in order to initiate chemotherapy at an elective stage. The chemotherapy regimen for ovarian cancer should be still applicable and the follow-up results be satisfactory in this case. This case report with literature review will increase the awareness and alertness of gynecologists to pelvic comorbidities in patients with MRKH syndrome.

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    Review
    Research Progress of ZP1 Gene Mutation in Empty Follicle Syndrome
    CAO Yuan-yuan, JIA Zan-hui, ZHANG Chun-miao
    2024, 43 (2):  127-131.  doi: 10.12280/gjszjk.20230443
    Abstract ( 390 )   HTML ( 27 )   PDF (3158KB) ( 211 )  

    The pathogenesis of empty follicle syndrome has not been clarified. More and more research has focused on the genetic factors of empty follicle syndrome, especially the genes involved in regulating oocyte development. Zona pellucida glycoprotein 1 (ZP1) is a key component of the structural integrity of the zona pellucida matrix. Structural and functional defects of zona pellucida due to the mutations of ZP1 gene often lead to the impaired oocyte maturation and the increased fragility, which may lead to the repeated oocyte retrieval failures. Various mutations of ZP1 gene that cause empty follicle syndrome phenotypes have been identified. In this paper, we reviewed the action and mechanism of ZP1 gene mutations at different sites in causing the empty follicle syndrome phenotype.

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    Research Progress of Sirolimus in the Field of Reproduction
    YE Lin, HOU Zhi-jin, MENG Yu-shi
    2024, 43 (2):  132-137.  doi: 10.12280/gjszjk.20230438
    Abstract ( 461 )   HTML ( 27 )   PDF (718KB) ( 182 )  

    Nowadays, sirolimus as a popular immunosuppressant has been frequently used to shield the organ transplant recipients from immunological rejection. The immunomodulatory effects of sirolimus in the female reproductive process have been demonstrated by ongoing medical study. By blocking the immune-regulating action of mammalian target of rapamycin, sirolimus may help those patients with recurrent implantation failure, recurrent spontaneous abortion, endometriosis, chronic endometritis, polycystic ovary syndrome, and other illnesses of the reproductive system. Additionally, sirolimus can enhance the rates of embryo implantation and clinical pregnancy in individuals with aberrant immunological statuses at the mother-fetal interface, reduce ovarian hyperstimulation syndrome during assisted reproductive treatment, and improve the pregnancy outcomes. A review was conducted on the mode of action, research status and safety of sirolimus in female reproductive disorders.

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    Immunometabolic Microenvironment at the Maternal-Fetal Interface Regulating Embryo Implantation
    WEN Xin, ZHAO Xiao-li, LUAN Zu-qian, XIA Tian
    2024, 43 (2):  138-143.  doi: 10.12280/gjszjk.20230471
    Abstract ( 402 )   HTML ( 18 )   PDF (847KB) ( 224 )  

    Embryo implantation induces the adaptive reprogramming of metabolism at the maternal-fetal interface, resulting in a hypoxic, mildly inflammatory, and slight acidic microenvironment. This type of microenvironment is conductive to establish endometrial receptivity, decidualization, trophoblast invasion and maternal-fetal immune tolerance by regulating the recruitment, activation, metabolism and polarization of immune cell. Successful embryo implantation necessitates the well-timed and suitable initiation and termination of the immune-inflammatory response and the glycolysis-dominated metabolic reprogramming. The dysregulation of immunometabolism caused by pathologic factors can result in adverse pregnancy outcomes, such as embryo implantation failure or post-implantation miscarriage. Macrophage as the most abundant antigen-presenting cell in the endometrium during the implantation window plays a crucial role in regulating immunometabolism at the maternal-fetal interface due to the remarkable immune plasticity and metabolic flexibility. We review the immunometabolic microenvironment and regulatory mechanisms at the maternal-fetal interface, to provide a reference for the advancement of clinical intervention approaches so as to improve the pregnancy outcomes in both natural conception and assisted reproduction.

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    The Role of LncRNA as CeRNA in Polycystic Ovary Syndrome
    DAI He-qi, MAO Fei, FENG Rui-zhi, QIAN Yun
    2024, 43 (2):  144-149.  doi: 10.12280/gjszjk.20230416
    Abstract ( 409 )   HTML ( 20 )   PDF (627KB) ( 223 )  

    Polycystic ovary syndrome (PCOS) is a common female reproductive endocrine disorder that is related with various factors including epigenetic and environment. Long non-coding RNA (lncRNA), with more than 200 nucleotides, are a kind of RNA molecules that do not code proteins. LncRNA can affect the expression of gene through epigenetic modification, transcriptional and post-transcriptional regulation. As a kind of competing endogenous RNA (ceRNA), lncRNA can affect the expression of target gene by competitively binding microRNA (miRNA). As a new regulatory mechanism, it can play an important role in many biological processes such as cell proliferation and differentiation, inflammatory response and immune response, which is closely related to many diseases. The ceRNA hypothesis also provides a further understanding of the mechanism of PCOS. Recently, the studies of lncRNA in PCOS significantly increased. The lncRNA differentially expressed in PCOS can involve as ceRNA in ovarian granulosa cell proliferation, oocyte maturation as well as hormone synthesis, and play an potential role in the development of PCOS. In this review, we summarize the roles of lncRNA as ceRNA in the occurrence and development of PCOS.

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    Granulosa Cell Autophagy in Pathophysiological Mechanism of Polycystic Ovary Syndrome
    ZHEN Jia, ZHAO Zi-yuan, WANG Zi-lu, SHI Wei, XU Li
    2024, 43 (2):  150-154.  doi: 10.12280/gjszjk.20230483
    Abstract ( 377 )   HTML ( 22 )   PDF (595KB) ( 227 )  

    Polycystic ovary syndrome (PCOS) is one of the most common reproductive endocrine disorders in women of reproductive age, and the pathophysiological mechanisms have not been elucidated. Autophagy participates in the all stages of follicular development, in which autophagy is relatively high-activated in the follicular granulosa cells. To maintain the autophagy homeostasis will support ovarian function and regulate follicular development, and ultimately affect the embryo quality and pregnancy outcomes. Abnormal expressions of autophagy-related genes and proteins can activate different pathways of autophagy, inhibit follicular granulosa cell development and interfere with endocrine homeostasis, which participates in the pathological process and prognosis of PCOS. This paper reviews the research progress of key molecules involved in granulosa cell autophagy in endocrine metabolism and the pathological roles of autophagy in PCOS,which provides more references for us to explore the mechanism of PCOS and clinical treatment.

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    The Effect of Microplastics Exposure on Female and Their Offspring Health
    WU Jing, LIU Cong, XIE Qing-zhen
    2024, 43 (2):  155-158.  doi: 10.12280/gjszjk.20230418
    Abstract ( 427 )   HTML ( 11 )   PDF (635KB) ( 209 )  

    Microplastics (MPs) refer to plastics with a diameter of less than 5 mm. As a new environmental pollutant, MPs can enter the body through the respiratory tract, digestive tract and skin, and then deposit in multiple tissues such as the intestine, liver and ovary. MPs exposure has toxic effects on the female reproductive system by affecting follicle development, oocyte quality and sex hormone levels through apoptosis, oxidative stress and disorders of hypothalamic-pituitary-gonadal axis, thereby reducing female fertility. Moreover, recent studies have found that MPs can enter the placenta and lead to the abnormal placental metabolism, immune imbalance at the maternal and fetal interface, and the impaired placental structure. MPs can further enter the offspring through the placental barrier after maternal exposure to MPs, causing adverse effects on the neural, digestive, reproductive and other multiple systems of the offspring. Given the toxicity of MPs and the persistence in environment, the exposure to MPs should be reduced in daily life to prevent human from the harm of MPs.

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    Evaluation of Fertility Quality of Life in Infertile Population and Analysis of Influencing Factors
    HAO Jia-li, HE Yu-jie
    2024, 43 (2):  159-165.  doi: 10.12280/gjszjk.20230486
    Abstract ( 396 )   HTML ( 21 )   PDF (986KB) ( 185 )  

    Fertility Quality of Life Questionnaire (FertiQoL) is a specific scale to measure the quality of life in infertile population. The decline of fertility quality of life will affect the treatment enthusiasm and treatment compliance of infertile population, thus affecting the outcome of assisted pregnancy. A large number of studies have shown that all modules and dimensions of the quality of life of infertile people are impaired, and that there is no unified conclusion on the influencing factors and the influence degree of different dimensions. It is clear that the impaired quality of life of infertile population is different in China and abroad. The treatment FertiQoL is more seriously damaged in Chinese infertile people, while the core FertiQoL is more seriously damaged in foreign infertile people. Social support and psychological resilience were the protective factors of FertiQoL, while anxiety, depression, alexithymia, reproductive stress and infertility stigma were negatively correlated with FertiQoL. In addition, general characteristics such as sex, age, place of residence, education level and duration of infertility are also important influencing factors. The present research is not enough about what interventions improving the quality of life of patients, and whether the clinical pregnancy rate can be improved after intervention.

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    Pathogenesis of Perimenopausal Sleep Disorders
    ZONG Yan, CHEN Yi-shuang, XU Lian-wei
    2024, 43 (2):  166-171.  doi: 10.12280/gjszjk.20230504
    Abstract ( 339 )   HTML ( 16 )   PDF (780KB) ( 197 )  

    Perimenopausal period is a special period in the life process of the female. During this period, the reproductive function of women declines and the levels of hormones fluctuate, leading to a series of clinical symptoms. Sleep disorder is one of the common symptoms. The factors and pathogenesis of perimenopausal sleep disorders are mainly related to hormonal changes, vasomotor symptoms and neurotransmitter unbalance. It is also related to anxiety and depression, emotional disorder, sleep-wake cycle, down-regulation of melatonin, apnea and hypopnea, restless leg syndrome, etc. Aging itself and metabolic problems also play a role. In this article, we discuss the related factors and pathogenesis of perimenopausal sleep disorders from the different perspectives.

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    The Mechanism of MiR-20a in Common Gynecological Malignant Tumors
    CHU Man-wei, CHEN Huan-huan, WANG Qian, WANG Yi-wen, LI Dan, YANG Shu-jun, ZHANG Cui-lian
    2024, 43 (2):  172-176.  doi: 10.12280/gjszjk.20230406
    Abstract ( 344 )   HTML ( 21 )   PDF (649KB) ( 230 )  

    Cervical cancer, endometrial cancer and ovarian cancer are the three most common malignant tumors in gynecology, and the incidences are on the rise in all ages in recent years. The gynecological malignant tumors have become a serious threat to women′s health in China. Although the application of a variety of targeted drugs has significantly prolonged the survival of patients, cervical cancer, endometrial cancer and ovarian cancer are still a group of diseases that cannot be accurately diagnosed and treated. MiR-17-92 gene cluster, as the earliest identified miRNA family of oncogene, has been widely concerned about its mechanism. As a member of the miR-17-92 gene cluster, miR-20a can play a post-transcriptional regulatory role by reducing or increasing the expression, thus affecting the downstream gene pathway, regulating the proliferation, invasion, and metastasis of malignant tumor cells, and finally achieving the occurrence and progress of malignant tumors. According to the current research progress, the specific increase of miR-20a expression in cervical cancer, endometrial cancer and ovarian cancer is usually related to the malignant progress of the disease. This article reviews the research progress of miR-20a in the pathogenesis of three common gynecological malignant tumors.

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