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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.
الموضوعات
Humans , Male , Prenatal Diagnosis , Mosaicism , Chromosomes, Human, X , Chromosomes, Human, Yالملخص
OBJECTIVE@#To explore the characteristics of copy number variation (CNV) within the Y chromosome azoospermia factor (AZF) region in patients with spermatogenesis disorders in the Shenzhen area.@*METHODS@#A total of 123 patients with spermatogenesis disorders who had visited Shenzhen People's Hospital from January 2016 to October 2022 (including 73 patients with azoospermia and 50 patients with oligozoospermia) and 100 normal semen males were selected as the study subjects. The AZF region was detected with multiplex ligation-dependent probe amplification (MLPA), and the correlation between the CNV in the AZF region and spermatogenesis disorders was analyzed using the chi-square test or Fisher's exact test.@*RESULTS@#19 CNV were detected among 53 patients from the 223 samples, including 20 cases (27.40%, 20/73) from the azoospermia group, 19 cases (38%, 19/50) from the oligozoospermia group, and 14 cases (14%, 14/100) from the normal control group. In the azoospermia, oligozoospermia, and normal control groups, the detection rates for CNV related to the AZFa region (including AZFab and AZFabc) were 5.48% (4/73), 2.00% (1/50), and 0 (0/100), respectively. The detection rates for the AZFb region (including the AZFbc region) were 6.85% (5/73), 0 (0/50), and 0 (0/100), respectively. The detection rates for gr/gr deletions in the AZFc region were 2.74% (2/73), 6.00% (3/50), and 9.00% (9/100), respectively, and those for b2/b4 deletions in the AZFc region were 2.74% (2/73), 10.00% (5/50), and 0 (0/100), respectively. The detection rates for complex rearrangements in the AZFc region were 6.85% (5/73), 18.00% (9/50), and 3.00% (3/100), respectively. Statistical analysis showed no significant difference in the detection rate of gr/gr deletions between the three groups (Fisher's Exact Test value = 2.712, P = 0.249); the differences in the detection rate of b2/b4 deletions between the three groups were statistically significant (Fisher's Exact Test value = 9.489, P = 0.002); the differences in the detection rate of complex rearrangements in the AZFc region between the three groups were statistically significant (Fisher's Exact Test value = 9.493, P = 0.006). In this study, a rare AZFa region ARSLP1 gene deletion (involving SY86 deletion) was detected in a patient with oligozoospermia.@*CONCLUSION@#CNV in the AZFa and AZFb regions have a severe impact on spermatogenesis, but partial deletion in the AZFa region (ARSLP1 gene deletion) has a minor impact on spermatogenesis. The b2/b4 deletion and complex rearrangement in the AZFc region may be risk factors for male infertility. The gr/gr deletion may not serve as a risk factor for male infertility in the Shenzhen area.
الموضوعات
Humans , Male , Azoospermia/genetics , DNA Copy Number Variations , Oligospermia/genetics , Infertility, Male/genetics , Y Chromosomeالملخص
Immune deficiency of the host caused by allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the initial factor of reactivation of latent human cytomegalovirus (HCMV). The risk factors of reactivation of HCMV in allo-HSCT recipients consist of the serological status of HCMV in donors and recipients, the matching degree of human leukocyte antigen (HLA) and pretreatment patterns, etc. The reactivation of HCMV is associated with the expression of a series of viral cleavage and proliferation proteins induced by the overexpression of major immediate early promoter/enhancer (MIEP) in the viral genome. In this article, the risk factors of reactivation of HCMV after allo-HSCT, the molecular changes related to maintaining latent infection of HCMV, the key role of MIEP overexpression in reactivation of HCMV, and the molecular pathways involved in reactivation of HCMV after allo-HSCT were reviewed and the major molecular events of reactivation of HCMV after allo-HSCT were elucidated, aiming to provide reference for the prevention and treatment of cytomegaloviral disease (CMVD) after allo-HSCT.
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Objective:To explore the role of comprehensive first aid skills training in improving medical students' comprehensive first aid ability.Methods:Eighty-seven medical students were enrolled in this study, and received the training of comprehensive first aid skills developed by the emergency medicine teaching and research section of our hospital. The scores of individual first aid ability, emergency handling ability, team cooperation ability, organization and coordination ability and communication ability before and after the training were analyzed. At the same time, a questionnaire survey was conducted among students to understand their evaluation and recognition of the training. SPSS 10.0 was used for t test. Results:After the training, the total score of comprehensive first aid ability was increased significantly [(73.55±3.89) vs. (63.53±3.06)], and the scores of emergency handling ability [(10.11±1.43) vs. (8.01±1.16)], team cooperation ability [(11.38±1.21) vs. (8.15±0.99)], organization and coordination ability [(10.68±1.17) vs. (8.15±0.99)] and communication ability [(9.64±1.31) vs. (7.55±1.08)] were also significantly increased ( P<0.05). However, there was no significant difference in the scores of individual first aid ability mastery before and after training. In all, 80.46%-96.55% of the students think that the training of comprehensive first aid skills is conducive to the improvement of their comprehensive first aid ability, and all of the students are willing to use this training in the future. Conclusion:Comprehensive first aid skill training is beneficial to improve medical students' comprehensive first aid ability.
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Objective To understand the incidence trend of ventilator -associated pneumonia(VAP)in ICU and to evaluate the effects of the interventions on the incidence of VAP,so as to provide scientific evidences for the prevention of VAP.Methods A study of 149 patients with VAP occurred in the 3 710 patients of ICU before and after intervention during 7 /2010 -12 /2014 in Wujin People's Hospital,Changzhou city was conducted.It was divided into two stages:baseline survey and stem expectations,VAP interventions included:training and education,chlorhexidine oral care and maintain appropriate endotracheal tube cuff pressure,elevated head of bed to up to 30°and improved hand hygiene.Hospital infection control professionals collected the number of patients,basic information,length of hospital stay,days of receiving mechanical ventilation and the VAP incidence data in ICU.And then change of the VAP incidence of the intervention before and after the intervention was compared and evaluation of the effect of combined intervention measures.Results Prospective data from 3 710 patients hospitalized in ICU were collected for an aggregate of 14 831 days,the utilization rate of ventilator was 55.2%.The occurrence of VAP was 149 cases.The average rate of VAP was 18.2 cases per 1 000 ventilator -day.VAP was associated with a crude mortality of 7.56%and with increased ICU LOS of 13.2d.As the results of the interventions,the rate of VAP was decreased from 52.38 /1 000 during 7 /2010 -6 /2011 to 5.71 /1 000 during 1 /2014 -12 /2014.Conclusion The rate of VAP in the inves-tigated ICU has led to a decreased incidence of VAP under the comprehensive interventions.
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Objective The hsa-miR-106b-25 gene cluster is involved in various biological processes of carcinoma .This study aims at a prediction and function analysis of the hsa-miR-106b-25 gene cluster, miR-106b, miR-93, and miR-25, so as to provide some evidence for further studies on the functions of the three miRNAs and the mechanisms of their interaction . Methods We obtained the sequences of miR-106b, miR-93, and miR-25 from the miRBase, predicted their target genes with TargetScan , PicTar, and miRanda, and used 3 or more experimentally verified target genes from the miRTarbase as the gene set for further bioinformatic analysis .We predic-ted the biological processes of the target genes by GeneOntology analysis and enriched KEGG ( Kyoto Encyclopedia of Genes and Genomes) by pathway analysis, produced protein-protein interaction ( PPI) networks with STRING . Results The target genes of the miR-106b-25 gene cluster were significantly enriched in such biological processes as the regulation of macromolecule metabolism , regulation of metabolic process , and cell cycle process , while the KEGG pathway mainly in glioma, melanoma, prostate cancer , and gallbladder carcino-ma.The proteins encoded by the targeted genes of showed complicated interactions , and those encoded by the KAT2B, PTEN, TP53, CDH1, MDM2, E2F1, RB1, and SMAD7 plaid a core role in the interac-tion network. Conc lusoi n MiRNAs of the miR-106b-25 gene cluster regulate the downstream target proteins involved in tumorigenesis by participating in the cell cycle and cancer signaling pathway .
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Objective To synthetically evaluate the relationship between miR-31 and the prognosis of carcinoma and to investi-gate its related mechanism.Methods The correlative literatures of tumor prognosis were retrieved from the electronic databases PubMed,EMBASE and ISI Web of Science.The pooled hazard ratios (HRs)and 95% confidence interval(95%CI )were extracted. The prognostic data were performed the synthesis analysis.Results A total of 7 trials conformed to the inclusion criteria including accumulated 2 012 cases of carcinoma.Meta-analysis revealed that the decrease of miR-31 expression in the tumor patients had the poor prognosis (HR=0.784,95%CI :0.630-0.974);in the subgroup analysis,the synthesis results adopting the multivariable a-nalysis and China subjects were 3.512 (95%CI :1.797-6.865)and 1.574 (95%CI :1.062-2.333),which indicating that the in-crease of miR-31 expression predicted the poor prognosis;miR-31 had no statistical significance in the digestive system (P >0.05). Conclusion The prognostic role of miR-31 may possess the histological and regional specificity and has the potential as a novel marker.
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Background and purpose:Ovarian cancer-associated ifbroblasts (CAF) are known to promote epithelial malignancy. The chemoattractant cytokine growth-regulated oncogene alpha (Gro-α) secreted from CAF has been reported to mediate the stroma-epithelia interaction in tumor microenvironment, leading to the development of epithelial ovarian cancer, however, the detailed mechanism is unknown.This study was to determine whether Gro-αcould promote ovarian tumorigenesis through activating NF-кB nuclear translocation and VEGF expression in stromal ifbroblasts. Methods:ELISA was used to measure the levels of Gro-αin two cancer-associated ifbroblasts (CAF) and normal ifbroblasts (NF) isolated from high-grade serous ovarian cancer or normal ovarian tissues. CAF conditioned medium (CM) or Gro-αwas used to treat NF, while PS1145, the inhibitor of NF-кB, was used as control. NF-кB subunit p65 and vascular endothelial growth factor (VEGF) were detected by Western blot in cells after treatment. Xenograft tumors from nude mice were generated by injection of CAF, NF, or OVCA429 alone or OVCA429 mixed with CAF or NF, and by injection of OVCA429 mixed with NF cells that were treated with or without CAF-CM or Gro-α, or with NF cells that were treated with CAF-CM or Gro-αplus PS1145. The tumor growth curve was measured and the blood vessel density in xenograft tumor tissues was examined by histopathological analysis. Results:The levels of Gro-αwere 5-6 folds higher in CAF than in NF. Treatment of NF with CAF-CM or Gro-αstimulated the nuclear translocation of NF-кB subunit p65, and the expression of VEGF, but suppressed the expression of thrombospondin 1, the anti-angiogenesis factor, compared with control cells. However, treatment of NF with the NF-кB inhibitor PS1145 reversed these results. The animal assay revealed that CAF stimulated tumor growth stronger than NF, and NF treated with CAF-CM or Gro-α, but not along with PS1145, enhanced xenograft tumor growth through promoting angiogenesis. Conclusion:Ovarian CAF promotes the nuclear translocation of NF-кB and the expression of VEGF through Gro-αautocrine in tumor microenvironment to facilitate angiogenesis and ovarian cancer development.
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Background and purpose: Cancer-associated fibroblasts (CAFs) are known to promote the invasion and metastasis of epithelial cancers. The cytokine IL-6 may mediate the interaction between stromal cells and epithelia in tumor microenvironment to facilitate the invasiveness and metastasis of cancer, however, such mechanism has not been fully covered yet.Methods:We used cervical cancer cell line HeLa as a model for this study. ELISA was used to measure the levels of IL-6 in CAFs and normal ifbroblasts (NFs) isolated from squamous cervical cancer or normal cervical tissues. CAFs conditioned medium or IL-6 was used to treat cervical cancer HeLa cell line. The epithelial-mesenchymal transition (EMT) markers such as N-Cadherin and Vimentin were detected by Western blot in cells before and after treatment. Scratches and transwell chambers were used to test the abilities of cell migration and invasion. Results:The levels of IL-6 were 4-5 folds higher in CAFs than in NFs. Treatment of HeLa cells with CAF conditioned medium or IL-6 upregulated N-Cadherin and Vimentin, but down-regulated E-Cadherin and cytokeratin, compared with control cells, indicating that IL-6 may stimulate HeLa cells to EMT. Further study found that Snail 1, the featured transcription factor for stem cells, was increased along with the enhanced phosphorylation of STAT3. Meanwhile, the migration and invasion of HeLa cells treated with IL-6 or CAF conditioned medium were markedly increased. Conclusion:CAF induces the EMT of cervical epithelial cancer cells through IL-6/STAT3/Snail pathway, which thereby promotes the invasiveness and metastasis cervical epithelial cancer.