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Six families with balanced chromosome translocation associated with reproductive risks in Hainan Province: Case reports and review of the literature

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World Journal of Clinical Cases 2020年第1期8卷 222-233页

作者： Yun-Chun Chen Xu-Ning Huang Chang-Ying Kong Jian-Dong Hu Department of Laboratory Medicine Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western MedicineShanghai University of Traditional Chinese Medicine(Haikou Hospital of Traditional Chinese Medicine)Haikou 570300Hainan ProvinceChina Department of Ultrasound Medicine Second Affiliated Hospital of Hainan Medical UniversityHaikou 570300Hainan ProvinceChina Department of Gynecology Second Affiliated Hospital of Hainan Medical UniversityHaikou 570300Hainan ProvinceChina Department of Internal Medicine Haikou Branch of Yueyang Hospital of Integrated Traditional Chinese and Western MedicineShanghai University of Traditional Chinese Medicine(Haikou Hospital of Traditional Chinese Medicine)Haikou 570300Hainan ProvinceChina

BACKGROUND Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal *** the genetic substance with balanced translocation in individuals does not change,which is usually characterized by normal phenotype and intelligence,the individuals seek medical service after many miscarriages,resulting in considerable mental and physical burdens of the family *** the current era with rapid advances in detection technology,cytogenetic examination,as a definitive approach,still plays an essential *** SUMMARY We report six cases with balanced chromosome translocation:Case 1:46,XY,t(3;12)(q27;q24.1),infertility after 3 years of marriage;Case 2:46,XX,t(4;16)(q31;q12),small uterus and irregular menstruation;Case 3:46,XY,t(4;5)(q33;q13),9qh+,not pregnant after arrested fetal development;Case 4:46,XX,t(11;17)(q13;p11.2),not pregnant after two times of spontaneous abortion;Case 5:46,XX,t(10;13)(q24;q21.2),not pregnant after arrested fetal development for once;Case 6:46,XX,t(1;4)(p36.1;q31.1),not pregnant after arrested fetal development for two *** first four cases had chromosomal aberration *** These results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal *** discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.

关键词： Reproductive risk Balanced translocation abnormal pregnancy Genetic counseling Case report

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Effect of B7-H4 downregulation induced by Toxoplasma gondii infection on dysfunction of decidual macrophages contributes to adverse pregnancy outcomes

Effect of B7-H4 downregulation induced by Toxoplasma gondii ...

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第十四届全国免疫学学术大会

作者： Xuemei Hu Binzhou Medical University

The vertical transmission of Toxoplasma gondii(***) infection during gestation can result in severe *** immune inhibitory molecule B7-H4 expressed on decidual macrophages,is seen to play an important role in maintaining maternal-fetal *** dysregulation of B7-H4 expression on decidual macrophages was observed in several cases of pregnancy complications;however,the role of B7-H4 on decidual macrophages during *** infection remains *** the present study,***-infected pregnant B7-H4 mice model in vivo and ***-infected human decidual macrophages with anti-B7-H4 neutralized antibody in vitro were used to explore the role of B7-H4 in the dysfunction of decidual macrophages during abnormal *** results illustrated that pregnant B7-H4mice with *** infection displayed poorer pregnancy outcomes compared with their infected wild-type *** addition,the B7-H4 expression on decidual macrophages significantly decreased after *** *** downregulation of B7-H4 by *** infection can result in the polarization of decidual macrophages from M2 to M1 by changing its membrane molecules expression,arginine metabolic enzymes synthesis,and cytokines *** research showed that the B7-H4 downregulation induced by *** significantly activated the Janus kinase 2/signal transducer and activators of transcription 1 signaling pathway and restrained the phosphatidylinositol-3 kinase/AKT signaling pathway,which resulted in abnormal enzyme synthesis and cytokine *** transfer of decidual macrophages containing B7-H4 can restore the functional molecules of decidual macrophages and amend adverse pregnancy outcomes in ***-infected pregnant B7-H4 *** study demonstrated that the decrease of B7-H4 on decidual macrophages caused by *** infection further led to decidual macrophages dysfunction,which finally contributed to the development of abnormal pregnancy outcomes.

关键词： Toxoplasma gondii decidual macrophage B7-H4 abnormal pregnancy adoptive transfer

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B7-H4 down-regulation induced by Toxoplasma gondii infection result in dysfunction of decidual DCs through regulating the JAK/STAT3 pathway

B7-H4 down-regulation induced by Toxoplasma gondii infection...

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第十四届全国免疫学学术大会

作者： Xuemei Hu Binzhou Medical University

Primary infection of Toxoplasma gondii(T. gondii) can cause serious abnormal pregnancy outcomes such as miscarriage and stillbirth. Inhibitory molecule B7-H4 is highly expressed in dendritic cells(DCs) and plays an important role in maintaining immune tolerance. However, the role of B7-H4 in decidual dDCs in T. gondii-induced abnormal pregnancy outcomes is not clear. We established T. gondii-infected abnormal pregnancy model in wide-type and B7H4 knockout(B7-H4) mice in vivo and cultured primary human dDCs in vitro. The abnormal pregnancy outcomes were observed and the expression of B7-H4, functional molecules(CD80, CD86, and MHC-II or HLA-DR), tryptophan metabolic enzyme(IDO), cytokines(IL-10 and IL-12) and signaling molecules JAK-STAT3 in dDCs was detected by flow cytometry and western blot. Our Results showed that T. gondii infection could significantly decrease B7-H4 expression in dDCs. And B7-H4infected mice showed much more severe abnormal pregnancy outcomes than the counterparts. Importantly, B7-H4infection further regulated the expression of molecules(CD80, CD86, and MHC-II or HLA-DR), enzyme IDO, and cytokines(IL-10 and IL-12) in dDCs. We further founded that B7-H4infection impairs JAK/STAT3 pathway, attributing to dDCs dysfunction. Taken together, downregulation of B7-H4 by T. gondii infection significantly modulate the decrease of cytokine IL-10 and enzyme IDO and the increase of cytokine IL-12, attributing to dDC dysfunction. Moreover, the JAK/STAT3 pathway involved in the regulation of B7-H4 by T. gondii infection in IDO and cytokine production, and finally contributing to abnormal pregnancy outcomes.

关键词： maternal-fetal tolerance decidual DCs inhibitory molecule B7-H4 Toxoplasma gondii abnormal pregnancy

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