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Table of Content

    15 November 2024, Volume 43 Issue 6
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    Original Article
    Case Report
    Review
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    Original Article
    Latent Profile Analysis of Distress Disclosure in Patients Undergoing Assisted Reproductive Technology
    SONG Dan-ni, ZHU Rong, PU Cong-shan, WANG Yi-ting, JIANG Wei-wei, HU Shuang, SHAN Chun-jian
    2024, 43 (6):  441-446.  doi: 10.12280/gjszjk.20240311
    Abstract ( 370 )   HTML ( 497 )   PDF (1079KB) ( 350 )  

    Objective: To explore the latent profiles of distress disclosure in patients undergoing assisted reproductive technology (ART), and to analyze the influence factors among different classes. Methods: Through the convenience sampling, patients undergoing ART were recruited from Women′s Hospital of Nanjing Medical University from August to October 2023. Basic Information Questionnaire and Distress Disclosure Index(DDI) were collected. Mplus 8.0 was used for exploratory latent profile analysis, and SPSS 27.0 for univariate analysis and multinomial Logistic regression. Results: A total of 192 patients undergoing ART were finally investigated with a median DDI score 39.00 (31.00, 47.00). Distress disclosure manifested itself in 3 potential categories named low disclosure type (n=41, 21.4%), medium disclosure type (n=82, 42.7%) and high disclosure type (n=69, 35.9%). Multinomial Logistic regression showed that the education level, place of residence, number of ART treatment cycles, source of reproductive pressure, financial burden during treatment and the cause of infertility were factors influencing the latent profiles of distress disclosure in patients undergoing ART (all P<0.05). Conclusions: The distress disclosure in patients undergoing ART has obvious classification characteristics. Medical staff should identify patients and carry out the targeted interventions according to the patients with different distress disclosure characteristics to self-expression in order to reduce psychological distress.

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    Effect of Serum β-hCG Level on the Next Day of Dual Trigger in Antagonist Regimen on the Outcome of Fresh Embryo Transfer
    WANG Jia-yi, JI Hui, LI Xin, LING Xiu-feng
    2024, 43 (6):  447-452.  doi: 10.12280/gjszjk.20240282
    Abstract ( 366 )   HTML ( 260 )   PDF (924KB) ( 44 )  

    Objective: To explore the predictive value of the serum β-human chorionic gonadotropin (β-hCG) level on the next day of dual trigger on the pregnancy outcome in fresh embryo transfer cycles of in vitro fertilization/intracytoplasmic sperm injection(IVF/ICSI) in the antagonist regimen. Methods: A retrospective study was conducted on the clinical data of 717 cycles of patients who underwent antagonist therapy for ovulation induction at the reproductive center of the Women′s Hospital of Nanjing Medical University from January 2017 to January 2024. All cases were induced to ovulate using a dual trigger method (hCG+gonadotropin-releasing hormone agonist). The patients were divided into 5 groups, based on the serum β-hCG level on the day after the trigger: Group A (42 cycles) had β-hCG≤50 U/L, Group B (282 cycles) had 50 U/L<β-hCG≤100 U/L, Group C (250 cycles) had 100 U/L<β-hCG≤150 U/L, Group D (92 cycles) had 150 U/L<β-hCG≤200 U/L, and Group E (51 cycles) had β-hCG>200 U/L. The laboratory outcome of ovulation induction and pregnancy outcome among different groups were compared. Results: There were significant differences in body mass index (BMI), basal follicle-stimulating hormone, days and total amount of gonadotropin, estrogen and progesterone levels on the trigger day, and the number of high-scoring blastocysts among the 5 groups (all P<0.05). As BMI increased, the β-hCG level on the day after the trigger gradually decreased. There was no significant difference in the number of usable embryos, high scoring blastocyst rate, clinical pregnancy rate, miscarriage rate, and live birth rate among the 5 groups (all P>0.05). Conclusions: In the fresh embryo transfer cycle of the antagonist regimen, the serum β-hCG level on the day after the dual trigger cannot predict the pregnancy outcome of the IVF/ICSI treatment.

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    Risk Factors of Adverse Pregnancy Outcomes in Patients with Undifferentiated Connective Tissue Disease and Construction of A Nomogram Model for Predicting
    WANG Yue, TANG Cen, LI Ya-jin, HU Wan-qin
    2024, 43 (6):  453-457.  doi: 10.12280/gjszjk.20240147
    Abstract ( 329 )   HTML ( 247 )   PDF (1041KB) ( 27 )  

    Objective: To investigate the risk factors of adverse pregnancy outcomes in patients with undifferentiated connective tissue disease (UCTD), and to construct a nomogram prediction model. Methods: 108 pregnant women with UCTD who were treated in the obstetrics department of the Second Affiliated Hospital of Kunming Medical University from May 2020 to May 2023 were selected. All patients were divided into the poor outcome group (n=44) and the good outcome group (n=64), and multivariate Logistic regression was used to analysis risk factors. A nomogram prediction model was then developed. Results: The body mass index (BMI), thrombin time (TT), IgA levels, and the proportions of in vitro fertilization, elevated urinary protein, and preeclampsia in the poor outcome group of UCTD patients were all higher than those in the good outcome group, while the proportion of patients using prednisone and the level of albumin were lower than those in the good outcome group, with statistical significance (all P<0.05). Logistic regression analysis showed that preeclampsia (OR=8.361, 95%CI: 1.331-52.527, P=0.024), increased BMI (OR=1.236, 95%CI: 1.011-1.510, P=0.039), increased TT (OR=1.889, 95%CI: 1.043-3.423, P=0.036), and increased IgA (OR=3.027, 95%CI: 1.099-8.340, P=0.032) are independent risk factors for poor pregnancy outcomes in UCTD patients, while increased albumin (OR=0.842, 95%CI: 0.700-0.971, P=0.021) is a protective factor. According to the predictive model, a high degree of discrimination was obtained with an area under the curve (AUC) of 0.853 (95%CI: 0.722-0.934). Conclusions: The nomogram model constructed in this study has good predictive accuracy and provides a clinically available prediction tool for the prevention of adverse pregnancy outcomes in patients with UCTD.

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    Clinical Analysis of 14 Cases of Pregnancy-Associated Hemolytic Uremic Syndrome
    GAO Xiao-li, SU Jing, LI Zeng-yan, LI Jie
    2024, 43 (6):  458-461.  doi: 10.12280/gjszjk.20240380
    Abstract ( 390 )   HTML ( 249 )   PDF (823KB) ( 33 )  

    Objective: To improve the understanding and diagnostic and treatment level of pregnancy-associated hemolytic uremic syndrome (HUS). Methods: The clinical data of 14 patients with pregnancy-associated HUS who were hospitalized and delivered in the Tianjin Medical University General Hospital from May 2008 to February 2024 were retrospectively analyzed, including the clinical characteristics, treatment methods and prognosis. Results: Preeclampsia was complicated in all of 14 patients, in which 11 cases occurred in the postpartum period. All of 14 patients presented with oliguria or anuria with hemolytic anemia, thrombocytopenia, and acute kidney injury. Plasma exchange and continuous renal replacement therapy (CRRT) were the main treatment methods, combined with low molecular heparin, glucocorticoids and other comprehensive treatment. All of patients were discharged after effective comprehensive treatment, confirming that the plasma exchange combined with CRRT has a better long-term prognosis. Within a follow-up visit of 0.5 to 14 years, 1 case received renal transplantation, 7 cases suffered from chronic kidney disease (CKD), 6 cases were cured, and there were no fatal cases. Conclusions: Pregnancy-associated HUS as a disease of rare onset and very poor prognosis should be diagnosed as early as possible, and the timely administration of blood purification and comprehensive treatment will help to improve the conditions of disease.

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    Clinical and Genetic Analysis of 4 Cases of 1q21.1 Distal Microdeletion/Microduplication Syndrome Complicated with Congenital Heart Disease
    HE Jing, WANG Jing, LIN Peng-wu, JIA Chun-yang, ZHU Shao-hua, HAO Sheng-ju, FENG Xuan
    2024, 43 (6):  462-466.  doi: 10.12280/gjszjk.20240304
    Abstract ( 390 )   HTML ( 260 )   PDF (7257KB) ( 51 )  

    Objective: To analyze the clinical and genetic characteristics of 1q21.1 distal microdeletion/microduplication syndrome combined with congenital heart disease (CHD) using chromosome copy number variation sequencing (CNV-seq). Methods: Retrospective analysis was conducted on the four pediatric patients diagnosed with 1q21.1 microdeletion/microduplication syndrome and CHD using CNV-seq at Gansu Provincial Maternity and Child Care Hospital. Results: The chromosomal CNV overlap region of 4 cases was identified as chr1:g.1465200000-147840000, the heart-related genes included CAJ5, CAJ8, PPKAB2, CHD1L, BCL9, etc. One child with microduplication displayed various concurrent anomalies including micromandible malformations, retrolingual fall, maxillary clefts as well as aberrant urinary system development. In three children with microdeletion, two out of three experienced significant growth retardation (one presenting severe intellectual impairment along with hypotonia and micropenis while another exhibited distinctive facial features), and one child underwent surgery for CHD during follow-up with a favorable prognosis. Conclusions: CHD in combination with developmental delay and/or distinctive facial features, represents a significant phenotype in young children affected by 1q21.1 microdeletion/duplication syndrome. It is imperative to identify chromosomal CNV in these individuals to provide theoretical basis for subsequent clinical diagnosis and treatment.

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    Clinical Analysis of 8 Cases of Vulvar Leiomyoma
    XU Qian, CHENG Jiu-mei, AN Yuan-yuan
    2024, 43 (6):  467-470.  doi: 10.12280/gjszjk.20240292
    Abstract ( 367 )   HTML ( 244 )   PDF (1615KB) ( 29 )  

    Objective: To improve the diagnosis and treatment of vulvar leiomyoma. Methods: 8 cases of vulvar leiomyoma admitted to the Beijing Obstetrics and Gynecology Hospital of Capital Medical University from January 2009 to December 2023 were analyzed retrospectively, including their clinical characteristics, diagnosis, treatment and prognosis. Results: The average age of onset in 8 patients was 37.8 years (27-46 years). 6 patients presented with an enlarged or persistent vulvar mass, including one patient with vague pain, one patient with recurrence of vulvar leiomyoma after surgery, and the other two patients with no obvious symptoms. Only 4 patients underwent perineal imaging, none of them were suggested vulvar leiomyoma. All 8 patients were not diagnosed as vulvar leiomyoma preoperatively, and were treated by the excision of vulvar mass or the localized enlarged vulvar excision. 2 patients were diagnosed with vulvar leiomyoma by paraffin pathology, and the other 6 by immunohistochemistry. No recurrence was found in 6-158 months of postoperative follow-up. Conclusions: Vulvar leiomyoma is an extremely rare benign tumor, which is usually asymptomatic, being accompanied by a long history of painless vulvar swelling or vulvar mass. There is no specificity in imaging examination. Vulvar leiomyoma is often misdiagnosed as a Bartholin cyst or abscess before surgery. Surgery is the main treatment, which requires the complete excision of the leiomyoma and capsule. According to the situation, some normal tissues outside the edge of the tumor can be excised to reduce recurrence, and long-term follow-up is required after the operation.

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    Case Report
    A Novel KMT2D Variant Causing Kabuki Syndrome
    ZHANG Dan-li, SHI Xue-dong, LI Jian-lei, ZHOU Li-fei, WANG Wen-yi, ZHANG Ping-ping, LI Ya-li
    2024, 43 (6):  471-474.  doi: 10.12280/gjszjk.20240262
    Abstract ( 384 )   HTML ( 256 )   PDF (1204KB) ( 229 )  

    Kabuki syndrome (KS) is a rare multi-phylogenetic disorder that often occurs in childhood. A case of a child with mental retardation and developmental delay was reported. Whole exome sequencing was performed to detect the related pathogenic genes, and Sanger DNA sequencing was performed in family members. Frameshift mutation, c.6752delC (p.S2251Cfs*13) in the KMT2D gene, was found in the child. The search in databases such as ClinVar and human gene mutation database (HGMD) did not find any record of this mutation site, and the parents did not carry the mutation, suggesting that this is a new pathogenic mutation. The results of genetic testing indicated that the case was a KS type Ⅰ caused by a new mutation of KMT2D gene, which expanded the KMT2D gene mutation profile, and enriched the clinical data of KS. It is important to conduct genetic counseling for KS families.

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    A Rare Case of Cervical Endometriosis
    MIAO He-zhen, LIU Jia-jia, YAN Yu, MA Guo-xia, WANG Xiao-hui
    2024, 43 (6):  475-478.  doi: 10.12280/gjszjk.20240188
    Abstract ( 348 )   HTML ( 254 )   PDF (6976KB) ( 98 )  

    The cervical endometriosis and the cervical malignant melanoma are two rare diseases with no specific clinical manifestations in the early stage of the disease. We reported a case of the cervical endometriosis misdiagnosed as the malignant melanoma of the cervix. The patient was a 51-year-old woman with no clinical symptoms and the lesion was only discovered during a specialist examination. The patient underwent loop electrosurgical excision procedure (LEEP) of cervix on October 25, 2023 and was finally diagnosed by pathological examination. We summarized the characteristics of cervical endometriosis and cervical malignant melanoma by referring to relevant literature, so as to improve the understanding and knowledge of these two diseases. Combined with the clinical characteristics and treatment process of this case, the diagnosis and differential diagnosis, and the treatment of these two diseases were discussed, including the causes of misdiagnosis and the prevention of misdiagnosis.

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    A Case of Primary Endometrial Yolk Sac Tumor in A Postmenopausal Woman
    SHI Hong-li, XU Li-xin, LIAN Hong-mei
    2024, 43 (6):  479-484.  doi: 10.12280/gjszjk.20240256
    Abstract ( 354 )   HTML ( 247 )   PDF (3699KB) ( 20 )  

    One case of yolk sac tumor with primary endometrium in a postmenopausal woman was reported. The patient was a 57-year-old woman with postmenopausal vaginal bleeding, accompanied by the elevated level of serum tumor marker alpha-feto protein(AFP). Gynecological ultrasound showed the thickening endometrium and uneven echo, abundant blood flow, and a right uterine cavity mass lesion. Pelvic magnetic resonance imaging showed the abnormal signal shadows in the myometrium and intrauterine cavity. On January 2, 2024, the patient underwent transabdominal total hysterectomy + double salpingectomy + pelvic and abdominal para-aortic lymph node dissection + omentectomy, and the postoperative pathological results suggested endometrial yolk sac tumor. As of May 2024, the patient has undergone 6 rounds of chemotherapy and is generally in good condition, with no recurrence or metastasis. The primary endometrial yolk sac tumor in postmenopausal women is highly malignant, with poor prognosis and the non-specific clinical manifestations. The diagnosis mainly depends on pathological examination and immunohistochemical examination. The early detection, early diagnosis and individualized treatment plan are the key factors to improve the prognosis of patients.

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    A Case of Brain Abscess Secondary to Intrauterine Device-Related Ovarian Abscess in A Postmenopausal Woman
    BAI Ruo-yan, WANG Yan-qiang, CHEN Jing-xia
    2024, 43 (6):  485-489.  doi: 10.12280/gjszjk.20240271
    Abstract ( 334 )   HTML ( 242 )   PDF (1564KB) ( 46 )  

    Brain abscess as a rare complication of ovarian abscess can occur even after anti-infective treatment following ovarian abscess surgery. We report a case of a 57-year-old postmenopausal woman who developed urinary difficulty and lower abdominal pain after intrauterine device removal in a local hospital. She was diagnosed with ovarian abscess and underwent ovarian abscess resection. One month post-surgery, the patient presented with persistent high fever and headache. She was diagnosed as a brain abscess by magnetic resonance imaging, and treated by anti-infection, intracranial pressure reduction, and correction of hypoalbuminemia. The patient was discharged after her condition stabilized. Regular outpatient follow-ups were conducted, and imaging results indicated the complete recovery after eight months of discharge. We summarize the pathogenesis, clinical manifestations, diagnosis, treatment and prevention of secondary brain abscess following ovarian abscess surgery.

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    Dermatofibrosarcoma Protuberans of Vulva: A Case Report
    LIU Si-min, WANG Jia-li, ZHANG Shi-xia, WEI Jia, YANG Yong-xiu
    2024, 43 (6):  490-493.  doi: 10.12280/gjszjk.20240324
    Abstract ( 323 )   HTML ( 247 )   PDF (2484KB) ( 22 )  

    Dermatofibrosarcoma protuberans (DFSP) is a rare dermal stromal tumor, and DFSP occurring in the vulva is even rarer in clinical practice. Pathological examination combined with immunohistochemical staining is the main method of diagnosis, and surgery is usually the main treatment. We reported a case of vulvar DFSP. After resection of vulvar mass in a local hospital, the postoperative examination indicated DFSP, so the patient was transferred to our hospital for the supplementary treatment. After surgical resection, the residual lesion was examined for pathology and immunohistochemistry. The diagnosis of vulva DFSP was confirmed again, and the supplementary chemotherapy was given after surgery. By discussing the etiology, pathogenesis, clinical manifestations, pathological types, diagnosis and differential diagnosis, treatment, prognosis and follow-up of the disease, we can deepen the understanding of this disease.

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    Review
    Potential Application of Tanshinone in the Treatment of Polycystic Ovary Syndrome and Mechanism
    LI An-qi, ZHU Meng-yi, WANG Yu, GAO Jing-shu, WU Xiao-ke
    2024, 43 (6):  494-500.  doi: 10.12280/gjszjk.20240275
    Abstract ( 366 )   HTML ( 256 )   PDF (963KB) ( 43 )  

    Tanshinone is a type of compound extracted from the traditional Chinese medicine Salvia miltiorrhiza, and it has received considerable attention due to its anti-inflammatory, antioxidant, and anti-cancer properties. Recent studies have suggested that tanshinone holds potential value in the treatment of polycystic ovary syndrome(PCOS). Tanshinone may effectively improve the insulin resistance, abnormal lipid metabolism, hyperandrogenemia, and chronic low-grade inflammation in PCOS patients by regulating hormone balance, enhancing insulin sensitivity, and reducing inflammatory responses. In addition, tanshinone can also improve ovulation disorders and ovarian dysfunction in PCOS patients. This article aims to review the research progress of tanshinone in the treatment of PCOS in recent years, in order to provide a theoretical reference for clinical practice and new drug development for PCOS.

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    Association of Circadian Rhythm Disorders with Polycystic Ovary Syndrome
    LEI Rui-xiang, WAN Yi, LI Yu-zi, GUAN De-feng, ZHANG Xue-hong
    2024, 43 (6):  501-505.  doi: 10.12280/gjszjk.20240270
    Abstract ( 352 )   HTML ( 248 )   PDF (835KB) ( 57 )  

    Circadian rhythm adapt the body to the changes of external environment through physiological oscillations on a 24-h cycle, and play a role in regulating energy metabolism, inflammation, cell renewal, and gut microbiota. The dysfunction of circadian rhythm can lead to the reduction of fertility in women. Polycystic ovary syndrome (PCOS) is increasingly described as an inherited polygenic trait that manifests itself after exposure to poor lifestyle or environmental risk factors. Studies have shown that unhealthy dietary and sleep habits in modern lifestyles can contribute to the development of PCOS through circadian rhythm disorders. The mechanisms may involve the endocrine and reproductive imbalances (hyperandrogenism), metabolic alterations (insulin resistance, lipid metabolism abnormalities), disruption of the gastrointestinal microbiome (ecological dysregulation), and genetic factors. Genes that play an important role in the maintenance of circadian rhythm stabilization are known as biological clock genes, and may be novel targets for the prevention and treatment of PCOS. In this paper, we summarize the research on circadian rhythm disorders and the development of PCOS, and provide a reference for future research and clinical treatment.

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    Research on the Correlation between Polycystic Ovary Syndrome and Anxiety and Depression Disorders
    QIAO Xin-yue, TAO Ai-lin, FENG Xiao-ling, CHEN Lu
    2024, 43 (6):  506-511.  doi: 10.12280/gjszjk.20240332
    Abstract ( 348 )   HTML ( 250 )   PDF (982KB) ( 54 )  

    Polycystic ovary syndrome (PCOS) is a common reproductive endocrine and metabolic disease in women of childbearing age. Clinically, it is accompanied by a series of facial and physical symptoms such as obesity, acne, hirsutism and black skin, reproductive problems such as infrequent ovulation, menstrual disorders and even infertility, and metabolic disorders such as insulin resistance and hyperandrogenism. Compared with the normal population, PCOS patients are more prone to negative emotions and emotional disorders, with anxiety and depression disorders being the most common. Epidemiological studies have shown that anxiety and depression disorders are highly prevalent in patients with PCOS. In addition, increasing evidence suggests that PCOS is closely related to anxiety and depression disorders in terms of pathogenesis, with many similar clinical manifestations or pathogenic factors. PCOS often has a causal relationship and mutual influence with anxiety and depression disorders, forming a vicious cycle. Therefore, it is called for early identification and intervention of negative emotions in PCOS patients.

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    Possible Application of Myo-Inositol and D-Chiro-Inositol in Treatment of Polycystic Ovary Syndrome
    TIAN Dejier, FENG Xiao-ling
    2024, 43 (6):  512-517.  doi: 10.12280/gjszjk.20240265
    Abstract ( 524 )   HTML ( 247 )   PDF (878KB) ( 79 )  

    Inositol as a kind of "bioactines" participates in metabolism and other activities in the body such as immunity, suggesting the potential application in the prevention and treatment of some diseases. Myo-inositol (MI) is the most common form of inositol. If higher animals are deprived inositol, they could show growth arrest and hair loss and other phenomena. D-chiro-inositol (DCI) is one of the nine isomers of inositol with optical activity. The recent studies have showed that DCI not only has the function of promoting liver lipid metabolism, but also has the function of insulin sensitization, lowering blood glucose and improving ovulation in patients with polycystic ovary syndrome (PCOS). MI combined with DCI can not only improve ovarian function and fertility, but also regulate hormone balance, improve menstrual disorders, and have special physiological functions such as anti-oxidation, anti-aging and anti-inflammation. However, the advantages of the combined application of MI and DCI in the treatment of PCOS, and the doses of combined MI and DCI, etc., need to be furtherly studied in animal experiments and clinical practice, also including the safety of long-term treatment and individual differential response.

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    The Research Advances in Sperm Maturation and Paternal Epigenetic Inheritance Regulated by Epididymosomes
    ZHANG Rui-yan, DENG Han-yu, CHEN Ke-xin, MA Zhuo-yao, LIU Yue, DING Zhi-de
    2024, 43 (6):  518-523.  doi: 10.12280/gjszjk.20240381
    Abstract ( 366 )   HTML ( 230 )   PDF (1003KB) ( 202 )  

    Epididymis is the key site for sperm maturation, because sperms gain the ability of motility and fertilization in the luminal microenvironment of epididymis. During this process, the levels of small non-coding RNAs in spermatozoa dramatically change. Subsequently, the changed small non-coding RNAs participate in the paternal intergenerational epigenetics. Epididymosomes are extracellular vesicles secreted by the principal cells in the epididymal epithelium, which contain a large number of proteins, nucleic acids and lipids. More and more studies documented that the epididymosomes transmitted many functional small RNAs and proteins to sperm during the sperm maturation in epididymis, thus playing a role in regulating sperm function and transmitting epigenetic information. For example, microRNA can keep the normal sperm morphology and motility, while cysteine rich secretory protein 1 (CRISP1) can significantly improve sperm motility. This review was focused on the research advances in sperm maturation via the functional proteins and small RNAs transportation regulated by the epididymosomes during the mammalian sperm transmission in epididymis.

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    Effect of Resveratrol on the Function of Ovarian Granulose Cells
    YANG Qin, WANG Han-ting, CAO Yuan-yuan, ZHOU Jun, WANG Gui-ling
    2024, 43 (6):  524-528.  doi: 10.12280/gjszjk.20240343
    Abstract ( 347 )   HTML ( 249 )   PDF (859KB) ( 57 )  

    Resveratrol (Res), a natural polyphenolic compound in plants, is a natural antioxidant that reduce cell oxidative damage, restore cell function and promote cell proliferation. Granulosa cells are the main functional cells of the ovary that synthesize and secrete a variety of hormones, which are important for the growth and development of follicles and the quality of embryos, and affect women′s ovarian function and fertility. Studies have found that Res can improve the physiological function of granulosa cells and reduce the cell damage caused by oxidative stress and harmful substances to granulosa cells. Res has been showed a potential value in the treatment of reproductive diseases related to granulosa cells, because granulosa cells affect the growth and maturation of oocytes, and then affect ovarian function and pregnancy outcome. This artide reviewes the regulation of ovarian granulosa cells function by Res in order to provide new ideas for the treatment of female reproduction-related diseases.

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