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Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia

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Genes & Diseases 2024年第5期11卷 74-77页

作者： Ke Deng Haibo Ruan Feifei Yu Zhenle Pei Congjian Xu Shuo Zhang Shanghai Ji Ai Genetics&IVF Institute Obstetrics and Gynecology Hospital of Fudan UniversityShanghai 200000China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200000China The First People’s hospital of Wenling WenlingZhejiang 317500China Rushan hospital of Traditional Chinese Medicine RushanShandong 264599China Department of obstetrics and gynecology Fudan UniversityShanghai 200000China.

Hereditary spastic paraplegia(HSP)is a group of disorders with genetic heterogeneity,lower-extremity weakness,and spasticity are the most common signs and *** is the most frequently disease-causing *** is a microtubule-severing enzyme encoded by SPAST that cleaves long microtubules into short fragments by interacting with other proteins or *** spastic paraplegia type 4(SPG4),which is autosomal dominant,is the clinical subtype associated with SPAST ***4 accounts for up to one-third of all HSP cases and usually presents with isolated lower extremity spasticity,with or without bladder or sensory dysfunction.1 The main cause of SPG4 is believed to be spastin haploinsufficiency,which results from mutations in the SPAST gene.

关键词： bladder insufficiency clinical

Does local vaginal estrogen after tension-free transobturator vaginal tape reduce overactive bladder symptoms in postmenopausal women? A prospective randomized, controlled study

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Asian Journal of Urology 2024年第1期11卷 86-92页

作者： Samer Mahmoud Morsy Dalia Farouk Sara Hassan Ahmed Yehia Abdelaziz Hussein Aly Hussein Urology Department Kasr Al Ainy HospitalCairo UniversityCairoEgypt obstetrics and gynecology Department Kasr Al Ainy HospitalCairo UniversityCairoEgypt

Objective:We aimed to evaluate the efficacy of topical estrogen after transvaginal tension-free vaginal tape-obturator(TVT-O)in the treatment of de novo overactive bladder symptoms that appear after ***:This is a prospective randomized controlled study performed in the Urology and gynecology Departments,Kasr Al Ainy hospital,Cairo University,Cairo,*** hundred and ten postmenopausal females presenting during the period between January 2017 and November 2020 with stress urinary incontinence were included in the *** were divided into two groups,105 patients in Group A(treatment group)and 105 patients in Group B(control group).Patients in Group A underwent transvaginal TVT-O followed by local vaginal estrogen treatment for 6 months,while patients in Group B underwent transvaginal TVT-O *** study included any postmenopausal female with urodynamic stress urinary *** patients had to fulfill a 3-day bladder diary,overactive bladder symptoms score,urine analysis,urodynamic study,and post-voiding residual urine measurement by abdominal ultrasound preoperatively and at 3-month and 6-month ***:At 6-month follow-up,daytime frequency was reduced to 8%in Group A(increased to 21%in Group B)with a statistically significant difference between both groups(p=0.009).At 6-month follow-up,nocturia was 8%in Group A(11%in Group B)with no statistically significant difference between both groups(p=0.469).There was a statistically significant difference between both groups as regards to urinary urgency at 6-month follow-up(p=0.024).There was a statistically significant difference in postoperative wound healing events as regards to cure,hyperemia,gapping,and wound infection 1 week after intervention between both groups(p=0.008).No local or systemic side-effects were reported from local estrogen ***:Local vaginal estrogen treatment given to postmenopausal patients after midurethral sling procedures can reduce the symptoms o

关键词： Stressurinary incontinence Estrogen Midurethral sling Overactive bladder symptom

Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice

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Journal of Genetics and Genomics 2024年第2期51卷 252-255页

作者： Xi Yang Shuting Ren Jialin Yang Yuncheng Pan Zixue Zhou Qing Chen Yunzheng Fang Lingyue Shang Feng Zhang Xiaojin Zhang Yanhua Wu State Key Laboratory of Genetic Engineering at School of Life Sciences Human Phenome InstituteObstetrics and Gynecology HospitalFudan UniversityShanghai 200438China obstetrics and gynecology hospital Institute of Reproduction and DevelopmentState Key Laboratory of Genetic Engineering at School of Life SciencesFudan UniversityShanghai 200011China Human Phenome Institute Zhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China obstetrics and gynecology hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China State Key Laboratory of Genetic Engineering at School of Life Sciences Obstetrics and Gynecology HospitalFudan UniversityShanghai 200438China National Demonstration Center for Experimental Biology Education School of Life SciencesFudan UniversityShanghai 200433China

Premature ovarian insufficiency(POI)is a severe female reproductive disorder that affects 1%of women in general populations(European Society for Human Reproduction and Embryology[ESHRE]Guideline Group on POI et al.,2016).An increasing prevalence up to 3.7%has been reported in a recent meta-analysis(Golezar et al.,2019).POl can lead to infertility or subfertility,as well as a range of complex complications suffering multi-organ systems,seriously threatening women's health and reducing the life *** contrast,POl is a representative heterogeneous disease with multiple *** more than 70 causative POI genes have been identified,the etiology of more than half of the POI patients is still ambiguous(Jiao et al.,2018).Unreported POI causative genes,therefore,remain to be identified.

关键词： insufficiency fertility

Long-term complete response to anti-programmed-death-1 monotherapy in a patient with relapsed and refractory ovarian adenocarcinoma: A case report

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World Journal of Clinical Cases 2024年第11期12卷 1967-1973页

作者： Guang-Di Zhou Qin Li Affiliated to Shanghai Jiao Tong University School of Medicine Xinhua HospitalShanghai 200092China Department of obstetrics and gynecology Shanghai Changhai HospitalShanghai 200433China

BACKGROUND Ovarian cancer is the most common malignant tumor of the female reproductive system,and the survival rate of patients with relapsed and refractory ovarian cancer is very *** SUMMARY Here,we report a case of high-grade serous papillary adenocarcinoma of the ovary that was successfully treated with *** surgery and adjuvant chemotherapy for the 56-year-old patient were successful;however,her tumor *** second-line chemotherapy,targeted agents,and other treatments were ineffective,as the tumor continued to recur and ***-programmed cell death-1(PD-1)monotherapy(tislelizumab)completely alleviated the tumor,and the multiple metastatic tumors *** date,the patient has used anti-PD-1 for 32 months,experiencing no disease progression and maintaining good health without additional *** This case suggests that anti-PD-1 immunotherapy may have long-term positive effects on outcomes in some refractory recurrent solid *** research is needed to identify patients most likely to respond to anti-PD-1 therapy.

关键词： Anti-programmed cell death-1 Tislelizumab Ovarian cancer Relapsed cancer treatment Immunotherapy Case report

Efficacy and Safety of Ganyushu Granule in Treatment of Premenstrual Syndrome with Gan(Liver)Depression and Qi Stagnation Syndrome:A Randomized,Double-Blind,Multicenter,Phase-ⅡClinical Trial

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Chinese Journal of Integrative Medicine 2024年第9期30卷 771-779页

作者： TENG Xiu-xiang XU Lian-wei LIN Jie ZHANG Jin-feng ZHANG Qin SUN Yun YANG De-feng LI Hong-mei ZHAO Pei LIU Jun Department of gynecology Beijing Hospital of Traditional Chinese MedicineCapital Medical UniversityBeijing100700China Department of gynecology Longhua HospitalShanghai University of Traditional Chinese MedicineShanghai200032China Department of gynecology The First Hospital of Hunan University of Chinese MedicineChangsha410021China Department of gynecology Shanxi Traditional Chinese Medicine HospitalTaiyuan030024China Department of gynecology Hangzhou Hospital of Traditional Chinese MedicineHangzhou310005China Department of gynecology Wenzhou Hospital Affiliated to Zhejiang University of Traditional Chinese MedicineWenzhouZhejiang Province325000China Department of gynecology Luoyang First People’s HospitalLuoyangHenan Province471000China Department of gynecology The Second Affiliated Hospital of Heilongjiang University of Chinese MedicineHarbin150001China

Objective:To confirm the efficacy and safety of Ganyushu Granule(GYSG)in treating premenstrual syndrome(PMS)in patients with Gan(Liver)depression and qi stagnation syndrome(GDQSS)and determine its effective ***:From June 2018 to March 2021,a total of 240 PMS women with GDQSS were included and randomly divided into 3 groups in a 1:1:1 ratio using central block randomization:high-dose GYSG group(n=78,GYSG 2 packs/time),low-dose GYSG group(n=82,GYSG and its simulant 1 pack/time),and placebo group(n=80,GYSG simulant 2 packs/time).Treatment with GYSG or placebo was given thrice daily and for up to 3 menstrual *** outcomes were PMS diary(PMSD)score and premenstrual tension syndrome self-rating scale(PMTS).Secondary outcomes were Chinese medicine(CM)syndrome ***,PMTS,and efficacy of CM were evaluated with menstrual cycles during the treatment *** indicators were analyzed after each menstrual *** analyses were performed using an intention-to-treat method,and clinical safety was ***:Of the 216 patients included in the effectiveness analysis,70,75,and 71 patients were in the high-,low-dose GYSG,and placebo groups,*** the 2nd treatment cycle,the change in PMSD scores in the high-and low-dose groups was lower than that in the placebo group(P<0.05).PMTS scores in the high-dose GYSG group after the 1st treatment cycle was lower than that in the placebo group(P<0.05),while after the 3rd treatment cycle,that in the low-dose group was lower than that in the placebo group(P<0.05).After the 2nd treatment cycle,the high-dose GYSG group had the best CM syndrome efficacy(P<0.05).No serious adverse reactions were ***:GYSG was safe and well-tolerated at both doses for treating PMS patients with ***-dose GYSG might be the optimal dose for a phaseⅢtrial.

关键词： premenstrual syndrome Chinese medicine Ganyushu Granule randomized controlled trial

Polo-like kinase 1 as a biomarker predicts the prognosis and immunotherapy of breast invasive carcinoma patients

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Oncology Research 2024年第2期32卷 339-351页

作者： JUAN SHEN WEIYU ZHANG QINQIN JIN FUYU GONG HEPING ZHANG HONGLIANG XU JIEJIE LI HUI YAO XIYA JIANG YINTING YANG LIN HONG JIE MEI YANG SONG SHUGUANG ZHOU School of Big Data and Artificial Intelligence Anhui Xinhua UniversityHefei230088China Department of gynecology and obstetrics Maternity and Child Healthcare Hospital Affiliated to Anhui Medical UniversityAnhui Province Maternity and Child Healthcare HospitalHefei230001China Department of gynecology and obstetrics The Fifth Clinical College of Anhui Medical UniversityHefei230032China Departments of Breast Surgery Fuyang Women and Children’s HospitalFuyang236000China Departments of Pathology Anhui Province Maternity and Child Health HospitalHefei230001China Department of Pain The First Affiliated Hospital of Anhui Medical UniversityHefei230032China Department of gynecology and obstetrics Linquan Maternity and Child Healthcare HospitalFuyang236400China

Invasive breast carcinoma(BRCA)is associated with poor prognosis and high risk of ***,it is critical to identify novel biomarkers for the prognostic assessment of ***:The expression data of polo-like kinase 1(PLK1)in BRCA and the corresponding clinical information were extracted from TCGA and GEO ***1 expression was validated in diverse breast cancer cell lines by quantitative real-time polymerase chain reaction(qRT-PCR)and western *** sample gene set enrichment analysis(ssGSEA)was performed to evaluate immune infiltration in the BRCA microenvironment,and the random forest(RF)and support vector machine(SVM)algorithms were used to screen for the hub infiltrating cells and calculate the immunophenoscore(IPS).The RF algorithm and COX regression model were applied to calculate survival risk scores based on the PLK1 expression and immune cell ***,a prognostic nomogram was constructed with the risk score and pathological stage,and its clinical potential was evaluated by plotting calibration charts and DCA *** application of the nomogram was further validated in an immunotherapy ***:PLK1 expression was significantly higher in the tumor samples in TCGA-BRCA ***,PLK1 expression level,age and stage were identified as independent prognostic factors of *** the IPS was unaffected by PLK1 expression,the TMB and MATH scores were higher in the PLK1-high group,and the TIDE scores were higher for the PLK1-low *** also identified 6 immune cell types with high infiltration,along with 11 immune cell types with low infiltration in the PLK1-high tumors.A risk score was devised using PLK1 expression and hub immune cells,which predicted the prognosis of BRCA *** addition,a nomogram was constructed based on the risk score and pathological staging,and showed good predictive ***:PLK1 expression and immune cell infiltration can predict post-immunotherapy pr

关键词： Breast invasive carcinoma(BRCA) Polo-like kinase 1(PLK 1) Random forest(RF) Support vector machine(SVM) Immune infiltration

WNT5A Regulated by miR154-5p is Associated with Angiopoiesis and Invasion of Placental Site Trophoblastic Tumor (PSTT)

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Biomedical and Environmental Sciences 2024年第4期37卷 423-427页

作者： ZHANG Sai CHEN Zhi Xian ZHANG Mo DU Yan ZHOU Jia Yi WU Jing YU Yin Hua CAO Qi ZHAO Hong Bo obstetrics and gynecology hospital Fudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200011China

Placental site trophoblastic tumor(PSTT),a rare gestational trophoblastic neoplasm(GTN),exhibits slow growth,late-onset metastasis,and chemotherapy insensitivity[1,2].The invasive capacity of trophoblasts induces angiogenesis in PSTT,yet the specific mechanism remains unclear[3].PSTT is typically resistant to chemotherapy and hysterectomy stands as the primary therapeutic choice for patients with an overall cure rate of approximately 75%-80%[4,5].Therefore,investigating the precise emergence and progression of PSTT is crucial,aiming to identify novel targets for diagnosis and therapy.

关键词： chemotherapy diagnosis metastasis

Molybdenum Concentration and the Risk of Spontaneous Preterm Birth: A Nested Case-Control Study — Beijing Municipality, China, 2018–2020

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China CDC weekly 2024年第13期6卷 261-266,I0005,I0006页

作者： Junhua Huang Wei Zheng Aili Wang Weiling Han Junxi Chen Hang An Lailai Yan Zhiwen Li Guanghui Li Division of Endocrinology and Metabolism Department of ObstetricsBeijing Obstetrics and Gynecology HospitalCapital Medical University.Beijing Maternal and Child Health Care HospitalBeijingChina Department of obstetrics and gynecology Beijing Luhe HospitalCapital Medical UniversityBeijingChina Institute of Reproductive and Child Health National Health Commission Key Laboratory of Reproductive HealthPeking UniversityBeijingChina Department of Epidemiology and Biostatistics School of Public HealthPeking UniversityBeijingChina Department of Laboratorial Science and Technology School of Public HealthPeking UniversityBeijingChina

What is already known about this topic?The level of molybdenum(Mo)in a mother’s urine has been linked to the growth rate of the fetus and the blood pressure levels in *** is added by this report?We evaluated the variations in maternal plasma Mo concentrations throughout pregnancy and their potential association with the risk of spontaneous preterm birth(SPB).What are the implications for public health practice?Future research must determine the Mo levels in pregnant women across various regions in ***,particular attention needs to be given to the potential increase in Mo concentration throughout pregnancy and its possible adverse impacts on the health of both the mother and the fetus.

关键词： mother urine pregnancy

DNA Damage-driven Inflammatory Cytokines:Reprogramming of Tumor Immune Microenvironment and Application of Oncotherapy

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Current Medical Science 2024年第2期44卷 261-272页

作者： Meng-jie WANG Yu XIA Qing-lei GAO Department of obstetrics and gynecology National Clinical Research Center for Obstetrics and GynecologyTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Key Laboratory of Cancer Invasion and Metastasis(Ministry of Education) Hubei Key Laboratory of Tumor Invasion and MetastasisTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China

DNA damage occurs across tumorigenesis and tumor *** intrinsic DNA damage can not only increase the risk of mutations responsible for tumor generation but also initiate a cellular stress response to orchestrate the tumor immune microenvironment(TIME)and dominate tumor *** evidence documents that multiple signaling pathways,including cyclic GMP-AMP synthase-stimulator of interferon genes(cGAS-STING)and ataxia telangiectasia-mutated protein/ataxia telangiectasia and Rad3-related protein(ATM/ATR),are activated downstream of DNA damage and they are associated with the secretion of diverse *** cytokines possess multifaced functions in the anti-tumor immune ***,it is necessary to deeply interpret the complex TIME reshaped by damaged DNA and tumor-derived cytokines,critical for the development of effective tumor *** manuscript comprehensively reviews the relationship between the DNA damage response and related cytokines in tumors and depicts the dual immunoregulatory roles of these *** also summarize clinical trials targeting signaling pathways and cytokines associated with DNA damage and provide future perspectives on emerging technologies.

关键词： DNA damage tumor immune microenvironment inflammatory cytokines cancer therapy