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Objective:To analyze the clinical value of serum 2019 novel coronavirus (2019-nCoV) immunoglobulin M (IgM) and immunoglobulin G (IgG) antibodies in the diagnosis of COVID-19.Methods:A total of 116 patients diagnosed with NCP in the First Affiliated Hospital of Hunan University of Chinese Medicine and the First Affiliated Hospital of Xiamen University were enrolled from January to February 2020 as the disease group. A total of 134 cases, including 84 non-NCP inpatients and 50 healthy individuals served as the control group. Serum samples from all subjects were collected. A fully-automated chemiluminescence immunoassay analyzer was used to detect the concentration of 2019-nCoV IgM and IgG antibodies in serum. The sensitivity and specificity of the 2019-nCoV IgM and IgG antibody single test and combined detection were compared using the χ 2 test. χ 2 test and Wilcoxon′s rank sum test were used to compare the positive rates and concentrations of IgM and IgG antibodies in NCP patients before and after their 2019-nCoV nucleic acid tests turning negative, respectively. The change trend of 2019-nCoV antibody concentration in the process of NCP patients was analyzed by Wilcoxon′s rank sum test. Results:The sensitivity of 2019-nCoV IgG (90.5%, 105/116) was higher than that of 2019-nCoV IgM (75.9%, 88/116), the difference was statistically significant (χ 2=8.91, P<0.05); The specificity of 2019-nCoV IgG (99.3%,133/134) was higher than that of 2019-nCoV IgM (94.0%, 126/134), the difference was statistically significant (χ 2=5.63, P<0.05). The sensitivity (89.7%,87/97) of 2019-nCoV IgM combined with IgG was higher than that of 2019-nCoV IgM, the difference was statistically significant (χ 2=6.89, P<0.05). The specificity (100%, 125/125) of 2019-nCoV IgM combined with IgG was higher than that of 2019-nCoV IgM, the difference was statistically significant (χ 2=7.70, P<0.05). After 2019-nCoV nucleic acid test converted to negative, the positive rate (9/17) and concentration [13.0 (4.9, 24.7) AU/ml] of serum 2019-nCoV IgM antibody were significantly lower than those when the nucleic acid test was positive, positive rate (15/17) and concentration [29.5 (14.0, 61.3) AU/ml], respectively (χ 2=5.10, Z=-3.195, both P<0.05). In the course of NCP, patients′ serum samples were collected from the first day of diagnosis to every three days, three times in total. The first 2019-nCoV IgM and IgG antibody concentrations [19.4 (12.4, 63.7) AU/ml, 105.8 (74.8, 126.1) AU/ml, respectively] were significantly higher than the second concentrations [15.8 (7.1, 40.3)AU/ml, 80.5 (66.7, 105.9) AU/ml], Z were-2.897,-3.179, both P<0.05. Conclusions:2019-nCoV IgG antibody has a good application value in the diagnosis of NCP. The concentration of 2019-nCoV IgM antibody has a certain correlation with the detection of 2019-nCoV nucleic acid. The combination of 2019-nCoV IgM and IgG antibodies with 2019-nCoV nucleic acid test may be the best laboratory index for the diagnosis of NCP at present.
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Objective@#To analyze the clinical phenotype of a Chinese pedigree affected with Tuberous sclerosis complex(TSC) and explore pathogenic mutations of TSC1 and TSC2 gene.@*Methods@#Unique clinical phenotypes, the results of imaging, examination of the proband and special family history, collectively, made the constellation of features of TSC.Genomic DNA was obtained from six affected and eight unaffected members of the family and potential mutations of the TSC1 and TSC2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.A total of 150 normal unrelated individuals were used as controls.@*Results@#Genetic analysis documented the presence of a heterozygous mutation, c. 1781_1782delTG (p.Val594GlyfsX11), in the exon 15 of TSC1 gene within all the patients of the family. This mutation was not observed in the eight unaffected family members or in the 150 unrelated control subjects from the same population , or the Human Gene Mutation Database(HGMD)and had completely co-segregated with the disease phenotype in the family.@*Conclusions@#The c. 1781_1782delTG mutation of TSC1 gene may be responsible for the tuberous sclerosis complex in this family. The data presented in the present study are of significance to clinicians, as well as genetic counselors, and may provide new clues for molecular diagnosis of this disease.
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OBJECTIVE@#To analyze the clinical phenotype of a Chinese pedigree affected with Tuberous sclerosis complex (TSC) and explore pathogenic mutations of TSC1 and TSC2 gene.@*METHODS@#Unique clinical phenotypes，the results of imaging, examination of the proband and special family history, collectively, made the constellation of features of TSC. Genomic DNA was obtained from six affected and eight unaffected members of the family and potential mutations of the TSC1 and TSC2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing. A total of 150 normal unrelated individuals were used as controls.@*RESULTS@#Genetic analysis documented the presence of a heterozygous mutation, c.1781_1782delTG (p.Val594GlyfsX11), in the exon 15 of TSC1 gene within all the patients of the family. This mutation was not observed in the eight unaffected family members or in the 150 unrelated control subjects from the same population , or the Human Gene Mutation Database (HGMD) and had completely co-segregated with the disease phenotype in the family.@*CONCLUSION@#The c.1781_1782delTG mutation of TSC1 gene may be responsible for the tuberous sclerosis complex in this family. The data presented in the present study are of significance to clinicians, as well as genetic counselors, and may provide new clues for molecular diagnosis of this disease．.
Subject(s)
Humans , DNA Mutational Analysis , Mutation , Pedigree , Tuberous Sclerosis , Genetics , Tuberous Sclerosis Complex 1 Protein , Genetics , Tuberous Sclerosis Complex 2 ProteinABSTRACT
Pygopus(Pygo)is a new discovered component of Wnt signaling,which is located in the downstream of its core protein β-catenin and can mediate β-catenin into nucleus and activate target gene tran-scription. Pygo plays an important role in mammalian embryonic development and tumor formation. Recent studies show that Pygo regulates stem cells,tumor cells and tumor stem cells by epigenetic mechanisms such as histone interpretations and modifications. Further insights into Pygo′s functions and mechanisms will extend our knowledge of the Pygo-related tumors.
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ObjectiveTo test the expression of epidermal growth factor-like domain 7 (EGFL7),microvessel density (MVD) and foeal adhesion kinase pY397 (FAKpY397) in human glioma tissues,and to evaluate their relationship.MethodsThe expression of EGFL7 and FAKpY397 in 56 cases of human glioma and 8 cases of normal brain tissues were detected by immunohistochemistry test,and MVD was detected by CD34 staining.ResultsThere was a significant difference of the positive rates of EGFL7 between normal brain tissue (0) and gliomas (75％),χ2 =17.45,P ＜0.01.With the increased pathological grade,the expression level of EGFL7 increased (χ2 =26.24,P ＜ 0.01 ).There was a significant difference of the positive rates of FAKpY397 between normal brain tissue ( 12.5％ ) and gliomas (73.2％),χ2 =6.23,P ＜ 0.05.With the increased pathological grade,the expression level of FAKpY397 increased (χ2 =6.71,P ＜ 0.01 ). MVD on normal brain was( 15 ± 4 )/HP,on Ⅰ - Ⅱ grade and Ⅲ -Ⅳ grade gliomas was ( 27 ± 3 )/HPand ( 60 ± 4 )/HP respectively,there was a significant difference on MVD between normal brain tissue and gliomas (P ＜ 0.01 ).Higher level of MVD was found in gliomas with higher grade ( P ＜ 0.01 ).There was a positive correlation between EGFL7 and FAKpY397 expressions in gliomas (r =0.314,P ＜0.01 ).There was a significant difference on MVD between positive and negative expression of EGFL7 ( t =26.55,P ＜ 0.01 ). MVD was (56 ± 4 )/HP and (25 ± 3 )/HP respectively.ConclusionThe expression of EGFL7 of human gliomas has a favorable positive correlation with the degree of malignancy,MVD and FAKpY397.It is indicated that EGFL7not only palys an important regulative role in glioma neovascularization,but also it may participate directly in glioma occurrence and invasion.
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ObjectiveTo detect the mutation of GJB2 gene in a Chinese family with Vohwinkel syndrome.MethodsClinical data were collected from 5 patients with Vohwinkel syndrome in a family,and blood samples were obtained from the 5 patients and 4 unaffected individuals in the family as well as from 100 normal human controls.Genomic DNA was extracted and subjected to PCR for the amplification of the entire encoding and flanking sequences of GJB2 gene(1015 bp) followed by bidirectional sequencing with the ABI PRISM 3730 automatic DNA sequencer.Finally,sequence alignment was carried out by using the software Sequencher 4.10.1 Demo.ResultsA heterozygous missense mutation 196G→C in the GJB2 gene,which resulted in the substitution of aspartic acid by histidine at codon 66 (D66H) in the first extracellular domain of the protein,was observed in all the patients of this family,but in none of the 4 unaffected individuals in this family or the 100 normal human controls.ConclusionThe D66H missense mutation in the GJB2 gene may contribute to the occurrence of Vohwinkel syndrome in Chinese Han population.
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Dendritic cell ( DC)-based tumor vaccine is applied to the gliomas treatment. Target selection heightens the specificity of DC vaccine, while obtaining of highly immunogenic long-lived and more effective DC vaccines by genetic engineering to antiapoptotic protein gene transfer. With the accumulation of clinical experience, the clinical curative effect of DC vaccine has been materially improved.
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To investigate the time dependent features and mechanisms of c fos expression in neurons after brain injury in mice. Using the mice model of severe traumatic brain injury, c fos expression in neurons was observed at different time points after trauma with the molecular hybridization and immunohistochemistry staining. A c fos expression process in neurons occurred after severe brain injury, peaking at 1 hour. Another expression peak appeared 24 hours later. Fos positive neurons were observed in the cerebral cortex of injured hemisphere, especially in Ⅱ Ⅳ layers. The c fos gene expression after brain injury in neuron has two peaks. c fos gene expression may be caused by Leao’s spreading depression, and may be associated with cell signal transduction and neuron apoptosis.