Prenatal diagnosis and genetic analysis of a fetus with partial deletion of Yq and mosaicism of 45,X / 中华医学遗传学杂志

OBJECTIVE@#To carry out prenatal diagnosis and genetic analysis for a fetus with disorders of sex development (DSDs).@*METHODS@#A fetus with DSDs who was identified at the Shenzhen People's Hospital in September 2021 was selected as the study subject. Combined molecular genetic techniques including quantitative fluorescence PCR (QF-PCR), multiplex ligation-dependent probe amplification (MLPA), chromosomal microarray analysis (CMA), quantitative real-time PCR (qPCR), as well as cytogenetic techniques such as karyotyping analysis and fluorescence in situ hybridization (FISH) were applied. Ultrasonography was used to observe the phenotype of sex development.@*RESULTS@#Molecular genetic testing suggested that the fetus had mosaicism of Yq11.222qter deletion and X monosomy. Combined with the result of cytogenetic testing, its karyotype was determined as mos 45,X[34]/46,X,del(Y)(q11.222)[61]/47,X,del(Y)(q11.222),del(Y)(q11.222)[5]. Ultrasound examination suggested hypospadia, which was confirmed after elective abortion. Combined the results of genetic testing and phenotypic analysis, the fetus was ultimately diagnosed with DSDs.@*CONCLUSION@#This study has applied a variety of genetic techniques and ultrasonography to diagnose a fetus with DSDs with a complex karyotype.

Genetic analysis of a family with 9q34.3 microdeletion and microduplication caused by abnormal chromosome balance structure / 中华医学遗传学杂志

OBJECTIVE@#To perform prenatal diagnosis, pedigree analysis, and genetic counseling of a pregnant woman who gave birth to a child with Kleefstra syndrome.@*METHODS@#Karyotype analysis, chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were used of peripheral blood and amniotic fluid to find causes. Recurrence risk assessment was performed later.@*RESULTS@#The amniotic fluid sample showed a 9q34.3 microduplication of arr (hg19) 9q34.3 (140 168 806-141 020 389)× 3, which overlapped the 9q34.3 microdeletion region of proband. The pregnant woman was detected with a balanced translocation of ish, t(9;17)(9q34.3; qter) (9p+; 17p+,9q+, 17q+). No other abnormal results were found in the family.@*CONCLUSION@#Offspring who share the same chromosome segment deletion or duplication are always from parent who carries balanced chromosomal structural aberration.

Genotypes of Treponema pallidum subspecies pallidum and their clinical significance / 中华微生物学和免疫学杂志

With the development of genome sequencing technology,Treponema pallidum has been found to have different subspecies all around the world. It is widely recognized that Treponema pallidum could be subtyped by analyzing two or three target genes. Advances in molecular epidemiology of syphilis reveal that clinical characteristics of Treponema pallidum,such as virulence,serofast,drug resistance and the site of in-fection,are related to its subspecies. Specifically,14f/f may be more virulent;serofast may be more likely to happen in patients infected with Treponema pallidum of Tpr i genotype;A2058 and A2059 genes may be re-lated to resistance to macrolides. All these will be summarized in this review.

Effects of Treponema pallidum on the expression of chemokine ligand 6, 8, 10 in human brain microvascular endothelial cells / 中华皮肤科杂志

Objective To evaluate the effects of Treponema pallidum (T.pallidum) on the expression of chemokine ligands (CXCL) in human brain microvascular endothelial cells (HBMECs).Methods HBMECs were randomly divided into 4 groups,which were treated with viable T.pallidum suspension (T.pallidum group),heat-inactivated T.pallidum suspension (inactivated T.pallidum group),200 μg/L lipopolysaccharide (LPS group) and cell culture medium (blank control group),respectively,for 6,12 and 24 hours.Fluorescence-based quantitative PCR and enzyme-linked immunosorbent assay (ELISA) were performed to determine the mRNA and protein expression of CXCL6,CXCL8 and CXCL10 in HBMECs in the above groups respectively.Transwell migration assay was conducted to evaluate the effects of T.pallidum-stimulated HBMECs on the chemotaxis of human promyelocytic HL-60 leukemia cells (HL-60 cells).Results At 6,12 and 24 hours,the T.pallidum group showed significantly higher mRNA expression of CXCL6,CXCL8 and CXCL10 in HBMECs compared with the blank control group and inactivated T.pallidum group (all P ＜ 0.05),while there were no significant differences between the blank control group and inactivated T.pallidum group (all P ＞ 0.05).Compared with the LPS group,the T.pallidum group showed significantly decreased mRNA expression of CXCL6 and CXCL8 (P ＜ 0.05),but similar mRNA expression of CXCL10(P ＞ 0.05)at 6,12 and 24 hours.At these time points,the levels of CXCL6 and CXCL8 in the culture supernatant of HBMECs were significantly higher in the T.pallidum group than in the blank control group and the inactivated T.pallidum group (all P ＜ 0.05),but no significant differences were observed between the blank control group and the inactivated T.pallidum group (both P ＞ 0.05).Moreover,there were no significant differences in the level of CXCL10 in the culture supernatant of HBMECs among the T.pallidum group,the inactivated T.pallidum group and the blank control group (all P ＞ 0.05).The number of migratory HL-60 cells in the lower Transwell chambers was significantly higher in the T.pallidum group than in the inactivated T.pallidum group and the blank control group (both P ＜ 0.05).Conclusion Viable T.pallidum can up-regulate the gene expression of CXCL6,CXCL8 and CXCL10 in HBMECs,promote the secretion of CXCL6 and CXCL8,and enhance the chemotactic effect of HBMECs on HL-60 cells,which may play a certain role in the occurrence of neurosyphilis.

hUC-MSCs promote proliferation and migration of osteosarcoma cells by secreting IL-6 / 中国病理生理杂志

AIM: To investigate the effects of human umbilical cord-derived mesenchymal stem cells ( hUC-MSCs) on the proliferation and migration of osteosarcoma cells ( Saos-2 ) and the underlying molecular mechanism. METHODS:hUC-MSCs were isolated and cultured by tissue explants adherent method.The cell surface markers on hUC-MSCs were identified by flow cytometry.The effects of conditioned medium ( CM) from hUC-MSCs ( hUC-MSCs-CM) , re-combinant human interleukin-6 (rhIL-6) and IL-6 neutralizing antibody on the proliferation of Saos-2 cells were detected by CCK-8 assay and cell counting.IL-6 secretion of hUC-MSCs was assayed by ELISA.RT-PCR was used to assess the tran-scription level of proliferation-related genes proliferating cell nuclear antigen ( PCNA) , cyclin D1 and survivin.The migra-tion potential of hUC-MSCs and Saos-2 cells was measured by Transwell assay.RESULTS:hUC-MSCs migrated to Saos-2 cells.hUC-MSCs-CM contained a high concentration of IL-6, up to (1 835.5 ±134.1) ng/L.hUC-MSCs-CM and rhIL-6 promoted the proliferation and migration of Saos-2 cells.Addition of neutralizing antibody against IL-6 in the hUC-MSCs-CM impaired this proliferation and migration of Saos-2 cells.The mRNA expression of PCNA, cyclin D1 and survivin was up-regulated by hUC-MSCs-CM and rhIL-6, while this effect was dramatically attenuated by treatment with IL-6 neutralizing antibody.CONCLUSION:hUC-MSCs migrate to osteosarcoma cells and promote the proliferation and migration of osteo-sarcoma cells through secreting IL-6 in vitro.

Pulse Signal Quality Estimation and Filtering Based on Cyclostationary Algorithm / 中国医疗器械杂志

In order to reduce the impact of various noise in pulse signal, the quality estimation and filtering algorithms based on cyclostationarity are proposed to reprocess pulse signal. First, A quality evaluation index of pulse signal which named quality factor is defined by cyclic spectrum to describe the quality variation of the pulse signal affected by noise; Second, a cyclic correlation matched filter (CCMF) is designed to remove noise. The simulation of pulse signal is produced by ourselves and noise signal is provided by MIT-BIH physiological database are used to test the function of proposed method, and then the method is applied to the actual pulse signal. The results show that the quality factor can accurately reflect the quality of the pulse signal and the CCMF can effectively remove noise from pulse signal.

Screening and identification of dengue virus type 2-specific antigens / 南方医科大学学报

<p><b>OBJECTIVE</b>To screen and identify dengue virus type 2 specific antigens and establish an enzyme-linked immunosorbent assay (ELISA) for detecting dengue virus type 2 antibody.</p><p><b>METHODS</b>Using the bioinformatic software DNAstar and ANTHEPROT, we analyzed the hydrophilicity, flexibility, surface probability and antigenicity of dengue virus type 1-4, Japanese encephalitis virus, and Yellow fever virus M and E protein amino acid sequences, and also evaluated the influence of secondary structure. The specific epitopes of dengue virus type 2 were predicted according to the epitope location and amino acid sequence similarity, and the epitope conservation was assessed using the sequence information of different dengue virus type 2 strains in GenBank. Based on the results of bioinformatic analysis, 5 specific epitopes were amplified and inserted into the prokaryotic expression vector pET32a, which were transferred into E. coli Rosetta (DE3) for expression of the proteins. SDS-PAGE and Western blotting were used to identify the expressed proteins and test their antigenicities. The antigen selected by Western blotting was used to establish the ELISA system for dengue virus type 2 antibody detection.</p><p><b>RESULTS</b>Bioinformatic analysis predicted 8 possible dengue virus type 2 specific epitopes, and 6 of them were efficiently expressed in E. coli. Western blotting confirmed 1 dengue virus type 2 specific antigen, the ELISA system for dengue virus antibody detection was successfully established using this specific antigen.</p><p><b>CONCLUSION</b>We have obtained a dengue virus type 2 specific antigen and established an ELISA system for detection of dengue virus type 2 antibody.</p>