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Asian Journal of Andrology 2024年第2期26卷 183-188页

作者： Huan Jiang Chu-Jie Huang Department of Reproductive Endocrinology Longgang District Maternity&Child Healthcare Hospital of Shenzhen City(Longgang Maternity and Child Institute of Shantou University Medical College)Shenzhen 518172China Institute of Reproductive Immunology College of Life Science and TechnologyJinan UniversityGuangzhou 510632China

Aberrant sperm protamination is linked to sperm dysmorphology and nuclear chromatin ***,its effects on sperm cytoplasmic maturation remain largely *** relationships of protamines,sperm morphology,DNA damage,and cytoplasmic remodeling were illustrated in this study to provide fresh perspectives on the mechanisms of male infertility.A total of 205 infertile males were allocated into 5 groups according to the percentage of spermatozoa exhibiting abnormal morphology within their *** concentration,motility,abnormal sperm morphology,cytoplasmic droplets(CDs),and excess residual cytoplasm(ERC)were analyzed according to the World Health Organization manual(2010).Sperm nuclear vacuoles(NVs)were determined by propidium iodide(PI)*** protamine expressions(P1 and P2)were detected by western *** damage was measured by acridine orange test(AOT)to calculate the proportion of sperm with single-strand DNA breaks(SSBs).Our data showed that sperm concentration and motility in infertile males significantly decreased with the severity of abnormal sperm morphology(both P<0.01).P1 level,P1/P2 ratio,and SSB rate increased with the severity of sperm dysmorphology,whilst the P2 level decreased(all P

关键词： abnormal sperm morphology excess residual cytoplasm male infertility protamines sperm DNA damage sperm nuclear vacuoles

COX-2 blocking therapy in cisplatin chemosensitization of ovarian cancer:An allicin-based nanomedicine approach

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Chinese Chemical Letters 2024年第8期35卷 449-454页

作者： Huijiao Fu Peiqin Liang Qianwen Chen Yan Wang Guang Li Xuzi Cai Shengtao Wang Kun Chen Shengying Shi Zhiqiang Yu Xuefeng Wang Department of Obstetrics and Gynecology The Third Affiliated Hospital of Southern Medical UniversityGuangzhou 510630China Department of Obstetrics and Gynecology Huizhou Central People’s HospitalHuizhou 516001China Affiliated Foshan maternity&child healthcare hospital Southern Medical University(Foshan Maternity&Child Healthcare Hospital)Foshan 528000China Guangdong Key Laboratory of New Drug Screening School of Pharmaceutical SciencesSouthern Medical UniversityGuangzhou 510515China Department of Nursing Nanfang HospitalSouthern Medical UniversityGuangzhou 510515China Department of Laboratory Medicine Dongguan Institute of Clinical Cancer ResearchThe Tenth Affiliated Hospital of Southern Medical University(Dongguan People’s Hospital)Dongguan 523018China

Recently,the utilization of nonsteroidal anti-inflammatory drugs(NSAIDs)to sensitize cisplatin(CDDP)has gained substantial traction in the treatment of ovarian cancer(OC).However,even widely employed NSAIDs such as celecoxib and naproxen carry an elevated risk of cardiovascular events,notably ***,the diminished sensitivity to CDDP therapy in OC is multifactorial,rendering the ap-plication of NSAIDs only partially effective due to their cyclooxygenase-2(COX-2)inhibiting ***,in this study,reactive oxygen species(ROS)-responsive composite nano-hydrangeas loaded with the Chinese medicine small molecule allicin and platinum(IV)prodrug(DTP@AP NPs)were prepared to achieve comprehensive *** one front,allicin achieved COX-2 blocking therapy,en-compassing the inhibition of proliferation,angiogenesis and endothelial mesenchymal transition(EMT),thereby mitigating the adverse impacts of CDDP ***,synergistic chemosensi-tization was achieved from multifaceted mechanisms by decreasing CDDP inactivation,damaging mito-chondria and inhibiting DNA *** essence,these findings provided an optimized approach for syner-gizing CDDP with COX-2 inhibitors,offering a promising avenue for enhancing OC treatment outcomes.

关键词： COX-2 blocking therapy CDDP Chemosensitization Allicin Ovarian cancer

Prenatal ultrasonic characteristics and diagnosis of fetal Currarino syndrome:Report of 2 cases and review of literature

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中国医学影像技术 2024年第8期40卷 1212-1215页

作者： WEI Yingni ZHANG Yuchen DENG Zongfeng WANG Yingqiu HUANG Qiaojie CHEN Yayan Department of Ultrasound Shenzhen Longhua Maternity&Child Healthcare HospitalShenzhen 518110China

Objective To explore prenatal ultrasonic characteristics of fetal Currarino syndrome(CS)and methods for prenatal diagnosis of *** Two fetuses with CS confirmed by genetic examination were retrospectively analyzed,while 6 CS fetuses with complete prenatal ultrasonic data in literature were *** ultrasonic characteristics of CS fetuses and the method for prenatal diagnosis of CS were *** Among 8 CS fetuses diagnosed with prenatal ultrasound,4 were female singletons with a clear family history of CS,and MNX 1 gene mutation was found in 1 *** other 4 fetuses were 2 pairs of male monochorionic twins,all with MNX 1 gene *** 8 CS fetuses,complete triad(sacral agenesis abnormalities,anorectal malformation and presacral mass)were displayed only in 2 fetuses,while all 8 had sacral agenesis abnormalities and 6(6/8,75.00%)were detected with prenatal ultrasound,6 had low location of conus medullaris and 2(2/6,33.33%)detected with prenatal *** Prenatal ultrasound was the first choice for non-invasive diagnosis of fetal *** one of sacral agenesis abnormalities,anorectal malformation and presacral mass was found with prenatal ultrasound,the possibility of CS should be considered,and fetal MRI,genetic examination and prenatal genetic counselling should be recommended if necessary.

关键词： Currarino triad ultrasonography,prenatal amniocentesis genes

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

ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy

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World Journal of Pediatrics 2024年第8期20卷 859-867页

作者： Yuan-Yuan Hu Wang Song Zhi-Gang Liu Xing-Guang Ye Hong-Wei Zhang Xin Li Jun-Xia Luo Peng-Yu Wang Jie Wang Xiao-Fei Lin Hong-Li Zhu Wei-Ping Liao Bin Li Xu-Qin Chen Department of Neurology Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of ChinaInstitute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical UniversityChang-gang-dong RoadGuangzhou510260China Epilepsy Center and Neurology Department of children’s hospital of Soochow University Suzhou215000JiangsuChina Department of pediatrics Foshan Women and Children HospitalFoshan528000China children’s hospital Affiliated to Shandong University Jinan250000ShandongChina Second hospital of Shandong University Jinan250000China huai’an maternity&child healthcare hospital Huai’an223001China Institute of Neuroscience of Guangzhou Medical University and Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China Chang-gang-dong Road 250Guangzhou510260GuangdongChina

The ARHGAP4 gene(OMIM*300,023),also known as Rho GTPase activating protein 4,encodes a protein that has an essential role in the regulation of small ***4 message RNA(mRNA)is highly expressed during the developing and adult nervous *** the protein level,ARHGAP4 is exclusively present in certain brain regions,such as the mesial temporal lobe,specifically the stratum lucidum of the CA3 region[1].ARHGAP4 enhances the GTPase activity of Rho proteins,which modulate morphological alterations in neuron development and synaptic plasticity by interacting with the actin cytoskeleton[2].

关键词： epilepsy alterations stratum

Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway

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Science China(Life Sciences) 2024年第9期67卷 1915-1927页

作者： Ling Li Lei Lu Ziqi Xiao Jingyi Lv Hefeng Huang Bo Wu Tongjin Zhao Chengtao Li Weimin Wang Hongyan Wang Obstetrics and Gynecology hospital State Key Laboratory of Genetic EngineeringInstitute of Reproduction and Developmentand Children’s HospitalFudan UniversityShanghai 200090China Shanghai Key Laboratory of Metabolic Remodeling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China Prenatal Diagnosis Center of Shenzhen maternity&child healthcare hospital Shenzhen 518028China Shanghai Medical College Fudan UniversityShanghai 200032China Department of Pharmacy College of Life SciencesChina Jiliang UniversityHangzhou 310018China

The BMP signaling pathway plays a crucial role in regulating early embryonic development and tissue ***6 encodes a negative regulator of BMP,and rare variants of SMAD6 are recurrently found in individuals with birth ***,we observed that a subset of rare pathogenic variants of SMAD6 consistently exhibited positive regulatory effects instead of the initial negative effects on the BMP signaling *** sought to determine whether these SMAD6 variants have common pathogenic ***,we showed that pathogenic SMAD6 variants accompanying this functional reversal exhibit similar increases in ***,increased deamidation of SMAD6 variants promotes the accumulation of the BMP receptor BMPR1A and the formation of new complexes,both of which lead to BMP signaling pathway ***,two residues,N262 and N404,in SMAD6 were identified as the crucial sites of deamidation,which was catalyzed primarily by glutamine-fructose-6-phosphate transaminase 2(GFPT2).Additionally,treatment of cells harboring SMAD6 variants with a deamidase inhibitor restored the inhibitory effect of SMAD6 on the BMP signaling ***,when wild-type SMAD6 was manually simulated to mimic the deamidated state,the reversed function of activating BMP signaling was *** together,these findings show that deamidation of SMAD6 plays a crucial role in the functional reversal of BMP signaling activity,which can be induced by a subset of various SMAD6 *** study reveals a common pathogenic mechanism shared by these variants and provides a potential strategy for preventing birth defects through deamidation regulation,which might prevent the off-target effects of gene editing.

关键词： SMAD6 deamidation BMP signaling pathway GFPT2

FPR1 Antagonist (BOC-MLF) Inhibits Amniotic Epithelial-mesenchymal Transition

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Current Medical Science 2024年第1期44卷 187-194页

作者： Xiao-mei HUANG E LIAO Jun-qun LIAO Ya-ling LIU Yong SHAO Department of Obstetrics and Gynecology The First Affiliated Hospital of Chongqing Medical UniversityChongqing 400042China Department of Obstetrics Maternal and Child Health Hospital of Hubei ProvinceWuhan 430070China Medical Laboratory Science The First Affiliated Hospital of Chongqing Medical UniversityChongqing 400042China Department of Obstetrics Yubei Maternity and Child Healthcare HospitalChongqing 400042China

Objective:Premature rupture of membranes(PROM)is a common pregnancy disorder that is closely associated with structural weakening of fetal *** have found that formyl peptide receptor 1(FPR1)activates inflammatory pathways and amniotic epithelial-mesenchymal transition(EMT),stimulates collagen degradation,and leads to membrane weakening and membrane *** purpose of this study was to investigate the anti-inflammatory and EMT inhibitory effects of FPR1 antagonist(BOC-MLF)to provide a basis for clinical prevention of ***:The relationship between PROM,FPR1,and EMT was analyzed in human fetal membrane tissue and plasma samples using Western blotting,PCR,Masson staining,and ELISA ***(LPS)was used to establish a fetal membrane inflammation model in pregnant rats,and BOC-MLF was used to treat the LPS rat *** detected interleukin(IL)-6 in blood from the rat hearts to determine whether the inflammatory model was successful and whether the anti-inflammatory treatment was *** used electron microscopy to analyze the structure and collagen expression of rat fetal ***:Western blotting,PCR and Masson staining indicated that the expression of FPR1 was significantly increased,the expression of collagen was decreased,and EMT appeared in *** rat model indicated that LPS caused the collapse of fetal membrane epithelial cells,increased intercellular gaps,and decreased ***-MLF promoted an increase in fetal membrane collagen,inhibited EMT,and reduced the weakening of fetal ***:The expression of FPR1 in the fetal membrane of PROM was significantly increased,and EMT of the amniotic membrane was ***-MLF can treat inflammation and inhibit amniotic EMT.

关键词： formyl peptide receptor 1 BOC-MLF epithelial-mesenchymal transition premature rupture of membranes

Predicting the Prognosis and Immunotherapeutic Response of Triple-Negative Breast Cancer by Constructing a Prognostic Model Based on CD8+T Cell-Related Immune Genes

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Biomedical and Environmental Sciences 2024年第6期37卷 581-593页

作者： Nani Li Xiaoting Qiu Jingsong Xue Limu Yi Mulan Chen Zhijian Huang Department of Medical Oncology Clinical Oncology School of Fujian Medical UniversityFujian Cancer HospitalFuzhou 350014FujianChina Department of Breast Surgical Oncology Clinical Oncology School of Fujian Medical UniversityFujian Cancer HospitalFuzhou 350014FujianChina Departmen of Pathology Shenzhen Longhua Maternity and Child Healthcare HospitalShenzhen 518109GuangdongChina

Objective Triple-negative breast cancer(TNBC)poses a significant challenge for treatment ***8+T cells,which are pivotal immune cells,can be effectively analyzed for differential gene expression across diverse cell populations owing to rapid advancements in sequencing *** leveraging these genes,our objective was to develop a prognostic model that accurately predicts the prognosis of patients with TNBC and their responsiveness to *** Sample information and clinical data of TNBC were sourced from The Cancer Genome Atlas and METABRIC *** the initial stage,we identified 67 differentially expressed genes associated with immune response in CD8+T ***,we narrowed our focus to three key genes,namely CXCL13,GBP2,and GZMB,which were used to construct a prognostic *** accuracy of the model was assessed using the validation set data and receiver operating characteristic(ROC)***,we employed various methods,including Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway,immune infiltration,and correlation analyses with CD274(PD-L1)to explore the model's predictive efficacy in immunotherapeutic ***,we investigated the potential underlying biological pathways that contribute to divergent treatment *** We successfully developed a model capable of predicting the prognosis of patients with *** areas under the curve(AUC)values for the 1-,3-,and 5-year survival predictions were 0.618,0.652,and 0.826,*** this risk model,we stratified the samples into high-and low-risk *** KEGG enrichment analysis,we observed that the high-risk group predominantly exhibited enrichment in metabolism-related pathways such as drug and chlorophyll metabolism,whereas the low-risk group demonstrated significant enrichment in cytokine ***,immune landscape analysis revealed noteworthy variations between(PD-L1)expression and risk scores,indicating that o

关键词： Breast Cancer Immunotherapy Prognosis CD8+T cells PD-L1

Problems and Countermeasures to Improve Clinical Trial Participants’Compensation Rights in China

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Asian Journal of Social Pharmacy 2024年第1期19卷 58-63页

作者： Yang Xiuqiao Wen Ping Lin Hong Chen Wenhuan Chen Yuwen Department of Clinical Trail Management Shenzhen Maternity&Child Healthcare HospitalShenzhen 518028China School of Business Administration Shenyang Pharmaceutical UniversityShenyang 110016China Jincheng Tongda&Neal Shenzhen 518000China

Objective To discuss the problems existing in the compensation of Chinese clinical trial participants and propose some suggestions for improving their *** The literature related to the participants’right to compensation at home and abroad was searched to study the inadequacy of the compensation right for clinical trial participants in China from four aspects:insurance system,principle of attribution,legal relationship and compensation ***,some suggestions to improve the participants’right to compensation were *** and Conclusion China lacks clear legal norms for participants’right to *** are problems such as unclear insurance rules and compensation rules,unclear contractual relationships between parties to clinical trials,and no laws and regulations to rely on for attribution and *** should issue regulatory guidelines related to the right to compensation of participants in clinical trials,so that all parties in clinical trials can have rules to follow if there is the occurrence of injury,which can better protect the rights and interests of the participants.

关键词： clinical trial participant compensation right

Early embryonic failure caused by a novel mutation in the TUBB8 gene:A case report

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World Journal of Clinical Cases 2024年第12期12卷 2092-2098页

作者： Xiao-Yu Zhang Xing-Xing Zhang Lei Wang Department of Reproductive Center Zaozhuang Maternal and Child Healthcare HospitalZaozhuang 277000Shandong ProvinceChina

BACKGROUND This study aimed to explore the relationship between gene mutations and early embryonic development arrest and to provide more possibilities for the diagnosis and treatment of repeated implantation *** SUMMARY Here,we collected and described the clinical data of a patient with early embryonic development stagnation after repeated in vitro fertilization attempts for primary infertility at the Department Reproductive Center of Zaozhuang Maternal and child healthcare *** also detected the whole-exon gene of the patient's spouse and parents,and conducted bioinformatics analysis to determine the pathogenesis of the *** A novel mutant of the TUBB8 gene[c.602G>T(p.C201F)]was identified,and this mutant provided new data on the genotype-phenotype relationships of related diseases.

关键词： Genes Mutation Embryonic development Fertilization in vitro Intracytoplasmic sperm injection Case report