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Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports

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World Journal of Clinical Cases 2024年第8期12卷 1544-1548页

作者： Fei Hou Yan Li Hua Jin Department of Prenatal Diagnosis Jinan Maternal and Child Health HospitalJinan 250001Shandong ProvinceChina

BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very *** SUMMARY Two pregnant women with abnormal prenatal screening results were *** was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 *** other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of *** number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 *** parental counseling,one woman continued the pregnancy,and the other woman terminated the *** In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ***,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women.

关键词： Trisomy 7 mosaicism Copy number variation sequencing Whole-exome sequencing Karyotype analysis Prenatal diagnosis Case report

Ginsenoside Rg3 Promotes the Survival and Migration of Trophoblast Cells in a Rat Model of Gestational Hypertension by Regulating miR-100a/Insulin Growth Factor-2 Axis

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World Journal of Traditional Chinese Medicine 2024年第1期10卷 65-74页

作者： Xiu-Mei Fan Li Yang Gang Zhao Sen-Ye Huo Yan Gao Department of Obstetrics Xingtai Third HospitalXingtaiChina Department of Obstetrics Xingtai Maternal and Child Health Care HospitalXingtaiChina

Objective:Preeclampsia(PE)is a common complication during ***-100a is expressed in the placenta and regulates the survival and development of placental *** growth factor-2(IGF-2)may serve as its downstream *** study investigated the protective mechanisms of ginsenoside Rg3 against PE in rat *** and Methods:LPS-induced rat PE models were suitable for intravenous administration of the highly expressed miR-100a ginsenoside Rg3 lentiviral *** trophoblasts were cultured in vitro for JEG-3,and PE cell models were *** vivo effects on tumor growth and apoptosis were *** Rg3 was treated with different concentrations of shRNA,miR-100a analogs,inhibitors,or *** and the expression of autophagy-related proteins were *** activity and migration were determined using Cell Counting Kit-8 and Transwell *** drugs strongly inhibited trophoblasts under normal conditions with some synergy between ***-luciferase return assay confirmed the binding affinity of miR-100a for ***:In response to Rg3,autophagy and the expression of autophagy-related proteins LC3-I/II,Beclin1,and SQSTM1 were reduced in PE rat placental ***3 inhibited autophagy in JEG-3 cells and promoted JEG-3 survival and migration in a concentration-dependent ***-100a upregulated PE *** results suggested that autophagy was a vital signaling ***3 intervention inhibited miR-100a expression and miR-100a downregulated IGF-2 expression in placental tissues and promoted autophagy,thereby inhibiting JEG-3cell survival and *** rats,Rg3 inhibited PE development by regulating the activity of the miR-100a-IGF-2 signaling ***:Ginsenoside Rg3 positively regulates the miR-100a-IGF-2 axis and protects PE rats by inhibiting trophoblastic autophagy and promoting trophoblastic cell survival and migration.

关键词： Ginsenoside Rg3 inflammatory response miR-100a/insulin growth factor-2 axis preeclampsia pregnancy-induced hypertension

Serum proteins differentially expressed in gestational diabetes mellitus assessed using isobaric tag for relative and absolute quantitation proteomics

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World Journal of Clinical Cases 2024年第8期12卷 1395-1405页

作者： Wei-Li Cao Cui-Ping Yu Ling-Li Zhang Department of Women’s health Care Maternal and Child Health Hospital of Hubei ProvinceWuhan 430070Hubei ProvinceChina Obstetrical Department The First People’s Hospital of Jiangxia District Wuhan City(Union Jiangnan Hospital Huazhong University of Science and Technology)Wuhan 430200Hubei ProvinceC Department of Gynecology Maternal and Child Health Hospital of Hubei ProvinceWuhan 430070Hubei ProvinceChina

BACKGROUND As a well-known fact to the public,gestational diabetes mellitus(GDM)could bring serious risks for both pregnant women and *** this important investigation into the linkage between GDM patients and their altered expression in the serum,proteomics techniques were deployed to detect the differentially expressed proteins(DEPs)of in the serum of GDM patients to further explore its pathogenesis,and find out possible biomarkers to forecast GDM *** Subjects were divided into GDM and normal control groups according to the IADPSG diagnostic *** samples were randomly selected from four cases in each group at 24-28 wk of gestation,and the blood samples were identified by applying iTRAQ technology combined with liquid chromatography-tandem mass *** proteins and signaling pathways associated with GDM were identified by bioinformatics analysis,and the expression of key proteins in serum from 12 wk to 16 wk of gestation was further verified using enzyme-linked immunosorbent assay (ELISA).RESULTS Forty-seven proteins were significantly differentially expressed by analyzing the serum samples between the GDMgravidas as well as the healthy ones. Among them, 31 proteins were found to be upregulated notably and the rest16 proteins were downregulated remarkably. Bioinformatic data report revealed abnormal expression of proteinsassociated with lipid metabolism, coagulation cascade activation, complement system and inflammatory responsein the GDM group. ELISA results showed that the contents of RBP4, as well as ANGPTL8, increased in the serumof GDM gravidas compared with the healthy ones, and this change was found to initiate from 12 wk to 16 wk *** GDM symptoms may involve abnormalities in lipid metabolism, coagulation cascade activation, complementsystem and inflammatory response. RBP4 and ANGPTL8 are expected to be early predictors of GDM.

关键词： Gestational diabetes mellitus Liquid chromatography-tandem mass spectrometry Isobaric tag for relative and absolute quantitation Proteomics Biomarker

Trends in the Incidence of High-Risk Newborns Based on a New Conceptual Framework-Beijing Municipality,China,2013-2022

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China CDC weekly 2024年第31期6卷 767-771页

作者： Yongxian Zhao Zhaoxia Jia Lei Wang Qingqing Wu Moning Guo Dong Han Lili Huang Junhua Wang Di Zhang Zhao Wang Minghui Wu Beijing Obstetrics and Gynecology hospital Capital Medical UniversityBeijing Maternal and Child Health Care HospitalBeijingChina Beijing Municipal health Big Data and Policy Research Center BeijingChina

Summary What is already known on this topic?A new conceptual term,small and vulnerable newborns(SVN),bringing preterm birth,small for gestational age(SGA),or low birth weight(LBW)together is being advocated for assessing whether a child is at high *** is added by this report?According to the new conceptual term,the increasing incidence of high-risk newborns(from 9.82%to 10.96%)has been observed among 2,005,408 newborns over the period from 2013 to 2022,which is higher than using any of the three definitions of *** age≥35,primiparity,and multiple births are high risks for *** are the implications for public health practice?The new conceptual framework should be used to better assess the number of high-risk *** should be paid to multiple births to prevent preterm-related *** reduce term newborns who are SGA,we need to be concerned not only with multiple pregnancies but also with first-time mothers.

关键词： Beijing bringing mother

The protective effect of Limosilactobacillus reuteri against gestational diabetes mellitus through restoring intestinal microbiota homeostasis and attenuating inflammation in mice

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Food Science and Human Wellness 2024年

作者： Ce Qi Haowen Zhang Zhenli Liu Xiaolin Liu Lintao Zhang Liangliang You Jin Sun Institute of Nutrition and health Qingdao University QingDao Newhope QinPai Dairy Co.Ltd. Tai'an maternal and child health hospital Jiaozhou Maternity and child health and Family Planning Service Center

Limosilactobacillus reuteri QS01 is potential probiotic isolated from the intestinal microbiota of healthy women in early pregnancy. In the current study， we examined whether QS01 can prevent gestational diabetes mellitus (GDM) in an enhanced mouse model of the condition. Female C57BL/6J mouse offspring (F1 generation) born to dams fed a control (CON) or low-protein diet (GDM group) during gestation and lactation were used. Pregnant F1 mice fed a standard diet were randomly assigned to 5 groups: CON， GDM， and GDM mice treated with metformin， QS01 or Lacticaseibacillus rhamnosus HN001. An oral glucose tolerance test was performed before sacrifice at gestational day 17. Glucose tolerance was significantly ameliorated by all three treatments. QS01 supplementation fortified the intestinal mucosal barrier and inhibited the escalation of plasma inflammatory cytokines. QS01 treatment altered the cecal microbiota composition and function. Plasma and cecal metabolite profiles were modulated by QS01， prominently demonstrating significant upregulation of indole lactate and L-tryptophan in plasma and 5-hydroxy-tryptophan in the cecum， positively correlated with gut Lactobacillus abundance. In summary， QS01 plays a role in preventing GDM by remodeling the intestinal microbiota， reinforcing the intestinal mucosal barrier and alleviating chronic inflammation.

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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

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

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

Immune rebalancing at the maternal-fetal interface of maternal SARS-CoV-2 infection during early pregnancy

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Protein & Cell 2024年第6期15卷 460-473页

作者： Chenxiang Xi Zihui Yan Dandan Bai Yalin Zhang Beiying Wang Xiaoxiao Han Li Wu Xiaohui Shi Zhiyi Hu Ming Tang Zhongqu Su Yingdong Liu Binya Liu Jiqing Yin Hong Wang Xiaocui Li Yanping Zhang Shaorong Gao Wenqiang Liu Shanghai Key Laboratory of maternal Fetal Medicine Clinical and Translational Research Center of Shanghai First Maternity and Infant HospitalShanghai Institute of Maternal-Fetal Medicine and Gynecologic OncologyFrontier Science Center for Stem Cell ResearchSchool of Life Sciences and TechnologyTongji UniversityShanghai 200092China Jiaxing Maternity and child health Care hospital Jiaxing 314050China

The current coronavirus disease 2019(COVID-19)pandemic caused by severe acute respiratory syndrome coronavirus(SARS-CoV-2)remains a threat to pregnant ***,the impact of early pregnancy SARS-CoV-2 infection on the maternal-fetal interface remains poorly ***,we present a comprehensive analysis of single-cell transcriptomics and metabolomics in placental samples infected with SARS-CoV-2 during early *** to control placentas,SARS-CoV-2 infection elicited immune responses at the maternal-fetal interface and induced metabolic alterations in amino acid and phospholipid profiles during the initial weeks ***,subsequent immune cell activation and heightened immune tolerance in trophoblast cells established a novel dynamic equilibrium that mitigated the impact on the maternal-fetal ***,the immune response and metabolic alterations at the maternal-fetal interface exhibited a gradual decline during the second *** study underscores the adaptive immune tolerance mechanisms and establishment of immunological balance during the first two trimesters following maternal SARS-CoV-2 infection.

关键词： fetal alterations pregnancy