1.Genetic diagnosis of one patient with microstructural abnormalities of the X chromosome and the pregnancy outcome of his spouse
Tonghua WU ; Shuling ZOU ; Wenjie ZHU ; Jing YANG ; Meihe GUAN ; Hongyan LI ; Chunmei CHEN ; Meilan MO
Chinese Journal of Reproduction and Contraception 2024;44(3):296-299
Objective:To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of chromosomal microstructural abnormalities.Methods:The proband was a 30-year-old man. He went to Reproductive Medicine Center of Shenzhen Zhongshan Urology Hospital in July 2021 because of a 7-year history of primary infertility. Chromosome karyotype was analyzed by conventional G-banding technique. One case was found to be suspected of microstructural aberration in X chromosome. The origin and structural characteristics of this X chromosome structural aberration was identified by high-resolution G-banding, copy number variation sequencing (CNV-seq), C-banding and fluorescence in situ hybridization (FISH). The pregnancy outcome of this case was followed up. Results:Conventional G-banding karyotype of peripheral blood lymphocytes was initially diagnosed as 46, Y, ?inv(X)(p22.3p22.2). The final karyotype of proband was interpreted as 46, Y, der(X) t(X; Y)(p22.3; q12) mat by high-resolution G-banding karyotype analysis, CNV-seq, C-banding analysis and FISH detection. His spouse had conceived singleton pregnancy via in vitro fertilization and embryo transfer. Prenatal diagnosis had been performed. Karyotype of amniotic fluid was 46, X, der(X) t(X; Y)(p22.3; q12) pat. No structural malformation was detected prenatally by ultrasound. The neonate was phenotypically normal one month after birth. Conclusion:The combined application of multiple cytogenetic and molecular genetic techniques can provide a reliable technical platform for characterizing the microscopic structural aberrations of chromosomes, and an important genetic basis for exploring the phenotype, prognosis and offspring risk of such patients.
2.Genetic diagnosis of one patient with microstructural abnormalities of the X chromosome and the pregnancy outcome of his spouse
Tonghua WU ; Shuling ZOU ; Wenjie ZHU ; Jing YANG ; Meihe GUAN ; Hongyan LI ; Chunmei CHEN ; Meilan MO
Chinese Journal of Reproduction and Contraception 2024;44(3):296-299
Objective:To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of chromosomal microstructural abnormalities.Methods:The proband was a 30-year-old man. He went to Reproductive Medicine Center of Shenzhen Zhongshan Urology Hospital in July 2021 because of a 7-year history of primary infertility. Chromosome karyotype was analyzed by conventional G-banding technique. One case was found to be suspected of microstructural aberration in X chromosome. The origin and structural characteristics of this X chromosome structural aberration was identified by high-resolution G-banding, copy number variation sequencing (CNV-seq), C-banding and fluorescence in situ hybridization (FISH). The pregnancy outcome of this case was followed up. Results:Conventional G-banding karyotype of peripheral blood lymphocytes was initially diagnosed as 46, Y, ?inv(X)(p22.3p22.2). The final karyotype of proband was interpreted as 46, Y, der(X) t(X; Y)(p22.3; q12) mat by high-resolution G-banding karyotype analysis, CNV-seq, C-banding analysis and FISH detection. His spouse had conceived singleton pregnancy via in vitro fertilization and embryo transfer. Prenatal diagnosis had been performed. Karyotype of amniotic fluid was 46, X, der(X) t(X; Y)(p22.3; q12) pat. No structural malformation was detected prenatally by ultrasound. The neonate was phenotypically normal one month after birth. Conclusion:The combined application of multiple cytogenetic and molecular genetic techniques can provide a reliable technical platform for characterizing the microscopic structural aberrations of chromosomes, and an important genetic basis for exploring the phenotype, prognosis and offspring risk of such patients.
3.From treatment to whole course management: envisioning comprehensive management of Talaromycosis marneffei
Cunwei CAO ; Tiantian LI ; Kaisu PAN ; Zhiwen JIANG ; Nanfang MO ; Qian PANG ; Lan HUANG ; Meilan XU ; Yidan WU ; Guoqun LIU
Chinese Journal of Epidemiology 2023;44(12):1993-1998
Talaromycosis marneffei has been increasing in recent years. Our understanding of this disease has gradually deepened through extensive basic and clinical research, but there are still many limitations. In this article, by incorporating the latest research advancements, we discuss important issues in managing Talaromycosis marneffei trends, aiming to guide effective prevention and control of the disease, improving public health, and reducing the healthcare burden.
4.Effect of cesarean scar defect and endometrial cavity fluid on the pregnancy outcomes of in vitro fertilization embryo transfer
Xuejin WANG ; Xiangyi KONG ; Qiuyuan LI ; Xiuyu HU ; Yuanyuan ZHENG ; Hongzhan ZHANG ; Shiru XU ; Meilan MO
Chinese Journal of Reproduction and Contraception 2022;42(9):909-916
Objective:To investigate the effect of cesarean scar defect and endometrial cavity fluid on the pregnancy outcomes of infertility patients with previous cesarean scar uterus undergoing in vitro fertilization-embryo transfer (IVF-ET). Methods:This was a retrospective cohort study. Totally 732 cases of patients with previous cesarean scar uterus were selected from frozen-thawed embryo transfer (FET) cycles in the Fertility Center, Shenzhen Zhongshan Urology Hospital from January 2019 to March 2020. They were divided into four groups: group A ( n=39) including patients with previous cesarean scar defect and without endometrial cavity fluid; group B ( n=82) including patients with previous cesarean scar defect and with endometrial cavity fluid; group C ( n=495) including patients without previous cesarean scar defect and without endometrial cavity fluid; group D ( n=116) including patients without previous cesarean scar defect and with endometrial cavity fluid. The general data and pregnancy outcomes were compared among these groups. Multivariate logistics regression analysis of pregnancy outcome indexes was performed. Results:The transplantation age of group A was higher than that of group B [(38.33±3.55) years vs. (36.93±3.59) years, P=0.045], the endometrial thickness of luteal transformation day and the rate of good-quality embryo transplantation of group C were higher than those of group D [(9.40±1.56) mm vs. (9.03±1.59) mm, P=0.025; 75.76% (375/495) vs. 65.52% (76/116), P=0.024]. The egg retrieval age of group A was higher than that of group C [(37.72±3.55) years vs. (36.25±4.52) years, P=0.049], but the endometrial thickness of luteal transformation day was thinner [(8.74±1.58) mm vs. (9.40±1.56) mm, P=0.012], and the differences were statistically significant. The implantation rate, the biochemical pregnancy rate and the clinical pregnancy rate of group C were higher than those of group D [34.23% (230/672) vs. 22.58% (35/155), P=0.007; 48.28% (239/495) vs. 37.93% (44/116), P=0.044; 42.83% (212/495) vs. 30.17% (35/116), P=0.012]. The early abortion rate in group D was higher than that in group B [40.00% (14/35) vs. 17.24 % (5/29), P=0.047], the difference was statistically significant. Multivariate logistics regression analyses were used with adjustment for possible confounders: the maternal age at embryo transfer, the maternal age at egg retrieval, anti-Müllerian hormone (AMH),antral follicle count (AFC), basic follicle-stimulating hormone (FSH), endometrial CD138 results, FET protocol, and embryo attributes, the number of embryos transferred, embryo quality, the endometrial thickness and the progesterone value on the day of luteal transformation, the result showed that the implantation rate, the biochemical pregnancy rate and the clinical pregnancy rate of group D were lower than those of group C [22.58% (35/155) vs. 34.23% (230/672), P=0.006; 37.93% (44/116) vs. 48.28% (239/495), P=0.047; 30.17% (35/116) vs. 42.83% (212/495), P=0.022] and the differences were statistically significant. The implantation rate, the biochemical pregnancy rate and the clinical pregnancy rate of group B were higher than those of group D [29.52% (31/105) vs. 22.58% (35/155), P=0.049; 48.78% (40/82) vs. 37.93% (44/116), P=0.012; 35.37% (29/82) vs. 30.17% (35/116), P=0.030] and the differences were statistically significant. Conclusion:Endometrial cavity fluid is the main factor that obviously affects the pregnancy outcome of infertility patients with previous cesarean scar uterus undergoing FET cycles.
5.Effect of cesarean scar defect and endometrial cavity fluid on the pregnancy outcomes of in vitro fertilization embryo transfer
Xuejin WANG ; Xiangyi KONG ; Qiuyuan LI ; Xiuyu HU ; Yuanyuan ZHENG ; Hongzhan ZHANG ; Shiru XU ; Meilan MO
Chinese Journal of Reproduction and Contraception 2022;42(9):909-916
Objective:To investigate the effect of cesarean scar defect and endometrial cavity fluid on the pregnancy outcomes of infertility patients with previous cesarean scar uterus undergoing in vitro fertilization-embryo transfer (IVF-ET). Methods:This was a retrospective cohort study. Totally 732 cases of patients with previous cesarean scar uterus were selected from frozen-thawed embryo transfer (FET) cycles in the Fertility Center, Shenzhen Zhongshan Urology Hospital from January 2019 to March 2020. They were divided into four groups: group A ( n=39) including patients with previous cesarean scar defect and without endometrial cavity fluid; group B ( n=82) including patients with previous cesarean scar defect and with endometrial cavity fluid; group C ( n=495) including patients without previous cesarean scar defect and without endometrial cavity fluid; group D ( n=116) including patients without previous cesarean scar defect and with endometrial cavity fluid. The general data and pregnancy outcomes were compared among these groups. Multivariate logistics regression analysis of pregnancy outcome indexes was performed. Results:The transplantation age of group A was higher than that of group B [(38.33±3.55) years vs. (36.93±3.59) years, P=0.045], the endometrial thickness of luteal transformation day and the rate of good-quality embryo transplantation of group C were higher than those of group D [(9.40±1.56) mm vs. (9.03±1.59) mm, P=0.025; 75.76% (375/495) vs. 65.52% (76/116), P=0.024]. The egg retrieval age of group A was higher than that of group C [(37.72±3.55) years vs. (36.25±4.52) years, P=0.049], but the endometrial thickness of luteal transformation day was thinner [(8.74±1.58) mm vs. (9.40±1.56) mm, P=0.012], and the differences were statistically significant. The implantation rate, the biochemical pregnancy rate and the clinical pregnancy rate of group C were higher than those of group D [34.23% (230/672) vs. 22.58% (35/155), P=0.007; 48.28% (239/495) vs. 37.93% (44/116), P=0.044; 42.83% (212/495) vs. 30.17% (35/116), P=0.012]. The early abortion rate in group D was higher than that in group B [40.00% (14/35) vs. 17.24 % (5/29), P=0.047], the difference was statistically significant. Multivariate logistics regression analyses were used with adjustment for possible confounders: the maternal age at embryo transfer, the maternal age at egg retrieval, anti-Müllerian hormone (AMH),antral follicle count (AFC), basic follicle-stimulating hormone (FSH), endometrial CD138 results, FET protocol, and embryo attributes, the number of embryos transferred, embryo quality, the endometrial thickness and the progesterone value on the day of luteal transformation, the result showed that the implantation rate, the biochemical pregnancy rate and the clinical pregnancy rate of group D were lower than those of group C [22.58% (35/155) vs. 34.23% (230/672), P=0.006; 37.93% (44/116) vs. 48.28% (239/495), P=0.047; 30.17% (35/116) vs. 42.83% (212/495), P=0.022] and the differences were statistically significant. The implantation rate, the biochemical pregnancy rate and the clinical pregnancy rate of group B were higher than those of group D [29.52% (31/105) vs. 22.58% (35/155), P=0.049; 48.78% (40/82) vs. 37.93% (44/116), P=0.012; 35.37% (29/82) vs. 30.17% (35/116), P=0.030] and the differences were statistically significant. Conclusion:Endometrial cavity fluid is the main factor that obviously affects the pregnancy outcome of infertility patients with previous cesarean scar uterus undergoing FET cycles.
6.Sequencing and Serologic Identification of S1 Genes of Infectious Bronchitis Viruses Isolated during 2012-2013 in Guangxi Province, China.
Lihua ZHANG ; Cuilan WU ; Zhipeng ZHANG ; Yining HE ; Heming LI ; Lili QIN ; Tianchao WEI ; Meilan MO ; Ping WEI
Chinese Journal of Virology 2016;32(1):62-69
We wished to ascertain the prevalence as well as the genetic and antigenic variation of infectious bronchitis viruses (IBVs) circulating in the Guangxi Province of China in recent years. The S1 gene of 15 IBV field isolates during 2012-2013 underwent analyses in terms of the similarity of amino-acid sequences, creation of phylogenetic trees, recombination, and serologic identification. Similarities in amino-acid sequences among the 15 isolates of the S1 gene were 54.3%-99.6%, and 43.3%-99.3% among 15 isolates and reference strains. Compared with the vaccine strain H120, except for GX-YL130025, the other 14 isolates showed a lower similarity of amino-acid sequences of the S1 gene (65.1-81.4%). Phylogenetic analyses of the S1 gene suggested that 15 IBV isolates were classified into eight genotypes, with the predominant genotype being new-type II. Recombination analyses demonstrated that the S1 gene of the GX-NN130048 isolate originated from recombination events between vaccine strain 4/91 and a LX4-like isolate. Serotyping results suggested that seven serotypes prevailed during 2012-2013 in Guangxi Province, and that only one isolate was consistent with the vaccine strain H120 in serotype (which has been used widely in recent years). The serotype of recombinant isolate GX-NN130048 was different from those of its parent strains. These results suggested that not only the genotype, but also the serotype of IBV field isolates in Guangxi Province had distinct variations, and that increasing numbers of genotypes and serotypes are in circulation. We showed that recombination events can lead to the emergence of new serotypes. Our study provides new evidence for understanding of the molecular mechanisms of IBV variations, and the development of new vaccines against IBVs.
Animals
;
Antibodies, Viral
;
blood
;
Chickens
;
China
;
Coronavirus Infections
;
blood
;
veterinary
;
virology
;
Genetic Variation
;
Genotype
;
Infectious bronchitis virus
;
classification
;
genetics
;
immunology
;
isolation & purification
;
Molecular Sequence Data
;
Phylogeny
;
Poultry Diseases
;
blood
;
virology
;
Sequence Homology, Amino Acid
;
Spike Glycoprotein, Coronavirus
;
chemistry
;
genetics
;
immunology

Result Analysis
Print
Save
E-mail