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1.
Article in Chinese | WPRIM | ID: wpr-921998

ABSTRACT

OBJECTIVE@#To investigate the ultrasonographic findings and genetic testing methods for fetuses carrying copy number variants (CNVs) of 7q11.23 region.@*METHODS@#Prenatal cases with 7q11.23 microdeletion/microduplication detected by single nucleotide polymorphism array (SNP array) from January 2016 to June 2020 were retrospectively analyzed, including fetal ultrasound, chromosomal karyotype, SNP array, pregnancy outcome and follow-up. Literature on 7q11.23 CNVs identified upon prenatal diagnosis was also reviewed.@*RESULTS@#Five fetuses were found with 7q11.23 CNVs, including 3 microdeletions and 2 microduplications. Of them, 4 had ultrasonographic anomalies. The karyotypes of all fetuses were normal. Of three 7q11.23 microdeletions, two were de novo, while the remaining one couple did not accept parental verification. Of two 7q11.23 microduplications, one was de novo and the another was inherited from a phenotypic normal father. Three 7q11.23 microdeletions and one de novo 7q11.23 microduplication were electively aborted. One fetus carrying paternally inherited 7q11.23 microduplication was delivered full term. Follow-up found the infant had a normal phenotype.@*CONCLUSION@#Fetuses with 7q11.23 microdeletions or microduplications showed phenotypic heterogeneity. SNP array can accurately detect 7q11.23 CNVs, thereby provide accurate information for prenatal diagnosis and genetic counseling.


Subject(s)
DNA Copy Number Variations , Female , Fetus , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis , Retrospective Studies
2.
Chinese Journal of Biotechnology ; (12): 3276-3292, 2021.
Article in Chinese | WPRIM | ID: wpr-921424

ABSTRACT

Due to the special geographical location and the complex ecosystem types, plateau wetlands play important ecological roles in water supply, greenhouse gas regulation and biodiversity preservation. Napahai plateau wetland is a special wetland type with low latitude and high altitude, and its microbial diversity was rarely studied. The diversity of microbial communities in the Napahai plateau wetland was analyzed using metagenomics method. Among the microbes detected, 184 phyla, 3 262 genera and 24 260 species belong to the bacterial domain, 13 phyla and 32 genera belong to the archaeal domain, and 13 phyla and 47 genera belong to the fungal domain. Significant differences in species diversity between soil and water were observed. Acidobacteria, Proteobacteria and Actinobacteria were dominant phyla in soil, while Proteobacteria and Bacteroides were dominant phyla in water. Since the carbon and nitrogen metabolism genes were abundant, the pathways of carbon fixation and nitrogen metabolism were analyzed. Calvin cycle, reductive tricarboxylic acid cycle and 3-hydroxypropionic acid cycle were the main carbon fixation pathways, while Proteobacteria, Chloroflexi, and Crenarchaeota were the main carbon-fixing bacteria group. As for the nitrogen cycle, nitrogen fixation and dissimilatory nitrate reduction were dominant in water, while nitrification and denitrification were dominant in soil. Proteobacteria, Nitrospirae, Verrucomicrobia, Actinobacteria, Thaumarchaeota and Euryarchaeota contributed to the nitrogen cycle. The study on microbial diversity of Napahai plateau wetlands provides new knowledge for the comprehensive management and protection of wetland environment in China.


Subject(s)
Carbon , Ecosystem , Metagenomics , Nitrogen , Soil Microbiology , Wetlands
3.
Article in Chinese | WPRIM | ID: wpr-888383

ABSTRACT

OBJECTIVE@#To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling.@*METHODS@#We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses.@*RESULTS@#Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis. Prenatal ultrasound revealed 4 abnormalities, of which 3 had intrauterine growth restriction, and only 1 had abnormalities of the maxillofacial region. The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb, 4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb, 4p16.3p15.31 with a loss of 20.4 Mb, 4p16.p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb.@*CONCLUSION@#Fetal growth restriction may be one of the early manifestations of WHS. Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS. Karyotype analysis may miss the diagnosis of WHS, while combined CMA techniques can improve the diagnostic accuracy.


Subject(s)
Chromosomes, Human, Pair 4/genetics , Female , Fetal Growth Retardation/genetics , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis , Retrospective Studies , Wolf-Hirschhorn Syndrome/genetics
4.
Article in Chinese | WPRIM | ID: wpr-879580

ABSTRACT

OBJECTIVE@#To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes.@*METHODS@#Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics.@*RESULTS@#Five of the eight cases with false-positive NIPT results were proven to be CPM involving trisomy 9, 13, 21, 22, and X, respectively. The mosaic ratios for different placental regions have varied from 4% to 80%. Two fetuses with confirmed CPM showed fetal growth restriction (FGR) and additional ultrasound abnormalities, 1 fetus showed only FGR. The remaining two fetuses showed normal growth.@*CONCLUSION@#NIPT is highly sensitive to CPM, whilst CPM is an important cause for false-positive NIPT result. CPM may be associated with FGR. Investigation of the presence of CPM is important for both pre- and post-test genetic counseling and management of the pregnancy.


Subject(s)
DNA Copy Number Variations , Female , Humans , Mosaicism , Pregnancy , Pregnancy Outcome , Prenatal Diagnosis , Trisomy
5.
Article in Chinese | WPRIM | ID: wpr-879578

ABSTRACT

OBJECTIVE@#To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.@*METHODS@#A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained.@*RESULTS@#Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion.@*CONCLUSION@#NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.


Subject(s)
Aneuploidy , Female , Humans , Pregnancy , Prenatal Diagnosis , Retrospective Studies , Sex Chromosomes/genetics , Trisomy
6.
Article in Chinese | WPRIM | ID: wpr-863153

ABSTRACT

Objective:To investigate the expression and role of chemokine CCL21 and its receptor CCR7 in ischemic brain white matter lesion (WML).Methods:Permanent bilateral common carotid artery occlusion (BCCAo) was used to prepare an ischemic WML model in C57Bl/6 mice. Evans blue perfusion staining was used to assess the permeability of the blood-brain barrier. Immunofluorescence staining was used to detect the expression of CCL21 and its receptor CCR7 in ischemic WML tissues. Cerebral microvascular endothelial cells were subjected to oxygen glucose deprivation (OGD) to prepare ischemic WML model in vitro. The expression level of CCL21 protein after OGD 6 hours and reoxygenation 24 hours was detected by Western blot analysis. Primary cultured oligodendrocyte precursor cells (OPCs) were treated with recombinant CCL21, and then inflammatory reaction was induced by lipopolysaccharide. The mRNA expression level of myelin basic protein (MBP), a marker of mature oligodendrocytes, was detected by quantitative polymerase chain reaction. Results:Compared with the sham operation group, the exudation of Evans blue stain in the brain tissue was significantly increased after BCCAo ( P<0.05), the expression level of CCL21 in cerebral vascular endothelial cells and CCR7 in OPCs was significantly down-regulated ( P<0.05). After cerebral microvascular endothelial cells were subjected to OGD, the expression level of CCL21 protein were significantly down-regulated compared with the control group ( P<0.05). After OPCs were treated with recombinant CCL21, the expression level of MBP mRNA was significantly up-regulated ( P<0.05). Conclusions:The expression of CCL21/CCR7 was significantly down-regulated after WML. The application of recombinant CCL21 may promote the differentiation and maturation of OPCs cells, suggesting that it may play an important role in ischemic WML.

7.
Article in Chinese | WPRIM | ID: wpr-863138

ABSTRACT

Objective:To investigate the correlation between white matter hypertensities (WMHs) and the overall burden of cerebral small vessel disease (CSVD) and clinical outcome of patients with acute ischemic stroke.Methods:From November 2018 to June 2019, patients with acute ischemic stroke hospitalized in the Department of Neurology, the Affiliated Jiangning Hospital of Nanjing Medical University were enrolled prospectively. Their demographic and clinical data were collected. The National Institutes of Health Stroke Scale (NIHSS) was used to evaluate the baseline severity of stroke. The total burden of CSVD was evaluated according to the head MRI findings. The severity of WMHs was assessed based on Fazekas scale. The modified Rankin Scale (mRS) was used to evaluate the outcomes at 90 d after onset. The mRS score 0-1 was defined as good outcome, and ≥2 was defined as poor outcome. Multivariate logistic regression analysis was used to determine independent risk factors for poor outcomes. Results:A total of 153 consecutive patients with acute ischemic stroke were enrolled, of which 126 (82.35%) had a good outcome and 27 (17.65%) had a poor outcome. There were significant differences in age, baseline NIHSS score, lipoprotein-associated phospholipase A 2, total Fazekas score, periventricular WMHs score, and deep WMHs score between the two groups, while there was no significant difference in the total burden of CSVD. Multivariate logistic regression analysis revealed that the baseline NIHSS score (odds ratio 1.245, 95% confidence interval 1.023-1.515; P=0.028) and the total Fazekas score (odds ratio 1.635, 95% confidence interval 1.049-2.549; P=0.030) were the independent risk factors for poor outcomes at 90 d after the onset in patients acute ischemic stroke. Conclusions:The overall burden of CSVD is not associated with the short-term outcomes in patients with acute ischemic stroke. WMHs and baseline NIHSS score are the independent risk factors for poor short-term outcomes in patients with acute ischemic stroke.

8.
Article in Chinese | WPRIM | ID: wpr-746243

ABSTRACT

Objective To investigate the auxiliary diagnostic value of combined detection serum lipoprotein-associated phospholipase A2 (LP-PLA2) and small and dense low-density lipoprotein (sd-LDL) in atherosclerosis.Methods The subjects were divided into experimental group and control group by random block design from May 2017 to January 2018,in the First Affiliated Yijishan Hospital of Anhui Wannan Medical College.The experimental group selected 125 AS patients with clinical diagnosis and confirmed by angiography,and 55 healthy subjects were chosen as the normal control group at the same time.Serum samples were collected within 24 hours after admission,and the level of LP-PLA2,sdLDL-C,low density lipoprotein cholesterol (LDL-C),triglyceride (TG),total cholesterol (TC) and high-sensitive C reactive protein (hs-CRP) were unified detection.The t test,single factor variance analysis and Mann-Whitney U and multivariate logistic regression analysis were used to analyze the data.Results LP-PLA2,sd-LDL,LDL,TC,TG and hs-CRP of the AS group were all higher than those of the healthy control group (Z=5.279,6.663,6.012,5.863,5.508 and 2.845,respectively,P<0.05).Logistic regression analysis showed that serum LP-PLA2,sd-LDL and hs-CRP level was an independent risk factor for predicting atherosclerosis (OR=1.008,P=0.003;OR=8.282,P=0.012;OR=1.158,P=0.009).The sensitivity of LP-PLA2,sd-LDL,LDL-C,TC,TG,hs-CRP to AS was detected separately (57.6%,73.6%,85.6%,83.2%,76.8%,80.0%),and the specificity was (89.1%,78.2%,67.3%,69.1%,74.5%,52.7%).The ROC curve showed that the diagnostic efficacy of LP-PLA2 and sd-LDL combined detection was 0.854,higher than sd-LDL,LDL-C,TC,TG,LP-PLA2 and hs-CRP (0.811,0.782,0.775,0.758,0.747 and 0.633,respectively).In addition,the levels of both increased with the aggravation of arteriosclerotic lesion(x2=7.954,P=0.019;x2=11.44,P=0.003).The levels of LP-PLA2 and sd-LDL in patients with AS were not significantly different between different lesions (x2=8.042,P=0.09;x2=5.952,P=0.203).There was no significant difference between serum LP-PLA2 and sd-LDL level and sex,age,smoking,hypertension and diabetes (Z1=0.398,0.719,0.619,0.098 and 1.338 respectively,Z2=0.942,0.027,0.894,0.375,0.783,respectively,both P1 and P2 were>0.05).Conclusions sd-LDL combined with LP-PLA2 has high sensitivity and specificity in the prediction of AS,which makes up for the deficiency of individual detection;sd-LDL and LP-PLA2 serum level has nothing to do with the lesion and has a positive correlation with the degree of lesions.It is not easily affected by other risk factors and can be used as a risk factor for predicting the occurrence of AS.

9.
Article in Chinese | WPRIM | ID: wpr-772022

ABSTRACT

OBJECTIVE@#To determine the frequency of Hong Kong αα (HK αα) gene in α3.7 positive samples among carriers from Fujian area.@*METHODS@#Routine genetic testing for thalassemia was carried out for 10145 patients with positive screening results. Single PCR and two-round nested PCR were utilized to detect HK αα among 507 patients with α3.7/αα and 2 patients for whom electrophoresis showed α3.7, -αSEA and normal α2 alleles. Reverse dot blot test was used for detecting non-deletional α-thalassemia and β-thalassemia variants.@*RESULTS@#Among the 507 patients with α3.7/αα, HK αα was identified in 35 cases, which included 25 HK αα/αα, 5 HK αα/α3.7, 4 HK αα/αα with heterozygous CD41/42 (HBB: c.126_129delCTTT) variant, 1 HK αα/αα with IVS-II-654 (HBB: c.316_197C>T) heterozygous variant. One patient was confirmed to have α3.7/anti4.2 genotype. The two cases with α3.7, -αSEA and normal α2 alleles were confirmed to be HK αα/--SEA. The frequency of HK αα genotype in Fujian area was therefore 7.27% among patients with α3.7 and 0.36% in the general population.@*CONCLUSION@#A certain proportion of HK αα has been detected in Fujian area, which will enable more accurate diagnosis and genetic counseling.


Subject(s)
Genotype , Heterozygote , Hong Kong , Humans , alpha-Thalassemia , beta-Thalassemia
10.
Chinese Journal of Hepatology ; (12): 687-692, 2019.
Article in Chinese | WPRIM | ID: wpr-797926

ABSTRACT

Objective@#To construct the recombinant adenoviral containing fructose 1, 6-biphosphatase 1 (FBP1), and to investigate whether FBP1 has effect on autophagy and proliferation in liver cancer cells (HepG2).@*Methods@#FBP1 cDNA sequence was amplified by PCR and cloned in adenovirus vector pAdTrack-TO4, and then recombinant adenovirus plasmid pAdTrack-FBP1 was constructed. The recombinant adenovirus plasmid was transfected into HEK293 cells by Lipofectamine 3000. High-titer of recombinant adenovirus AdFBP1 was obtained by packaging and amplification. HepG2 cells were infected with recombinant adenovirus AdFBP1, and the Mock and AdGFP group were set at the same time. Western blot and confocal laser scanning microscopy were used to observe the effect of FBP1 on the level of autophagy in hepatocellular carcinoma cells, and the effect of FBP1on the proliferation was observed by MTS and colony formation assay. A t-test and one-way ANOVA were used to compare the mean between group.@*Results@#A high-titer recombinant adenovirus FBP1 was successfully constructed. Western blot and confocal laser scanning microscopy showed that the level of autophagy in AdFBP1 group was significantly lower than that in AdGFP group. Western blot results showed that LC3-II protein expression level in AdGFP was 1.10 ± 0.10 and 0.30 ± 0.01 in AdFBP1 group, F = 90.36, P < 0.01. Confocal laser scanning microscopy analysis showed that the average number of autophages in AdGFP was 28.33 ± 1.53 and 12.33 ± 1.53 in AdFBP1group, F = 97.40, P < 0.01. In addition, the results of colony formation assay and MTS assay showed that the proliferation of liver cancer cells in the AdFBP1 group was significantly inhibited compared with the AdGFP group. The results of colony formation showed that the cell clones in the AdGFP group was 65.66 ± 2.57 and 34.00 ± 2.00 in AdFBP1 group, F = 141.50, P < 0.01. MTS results showed that the absorbance of AdGFP group at 96h was 39.13 ± 2.21 and 30.61 ± 3.33 in AdFBP1 group, F = 7.80, P < 0.05.@*Conclusion@#FBP1 inhibited the autophagy and proliferation in liver cancer cells (HepG2).

11.
Neuroscience Bulletin ; (6): 1073-1084, 2019.
Article in English | WPRIM | ID: wpr-776459

ABSTRACT

High-voltage-activated (HVA) Ca channels are widely expressed in the nervous system. They play an important role in pain conduction by participating in various physiological processes such as synaptic transmission, changes in synaptic plasticity, and neuronal excitability. Available evidence suggests that the HVA channel is an important therapeutic target for pain management. In this review, we summarize the changes in different subtypes of HVA channel during pain and present the currently available evidence from the clinical application of HVA channel blockers. We also review novel drugs in various phases of development. Moreover, we discuss the future prospects of HVA channel blockers in order to promote "bench-to-bedside" translation.

12.
Article in Chinese | WPRIM | ID: wpr-752137

ABSTRACT

This paper took Qinghai Province as the research object, and constructed 20 secondary indicators of the two subsystems of Qinghai Tibetan medicine industry competitiveness and regional economic development. Drawing on the coupling coordination model, we empirically analyzed the coupling coordination degree between the Tibetan medicine industry competitiveness and regional economic development in Qinghai Province from 2008 to 2017. The results indicated that the development of Tibetan medicine industry in Qinghai lagged behind the development of regional economy, but the coupling coordination degree between the two showed an overall upward trend, which was divided into two stages. One was the maladjustment phase from 2008 to 2012, while the other was the coordination period from 2013 to 2017. Both the two subsystems were currently in primary coordination.

13.
Chinese Journal of Pediatrics ; (12): 628-632, 2018.
Article in Chinese | WPRIM | ID: wpr-810091

ABSTRACT

Objective@#To investigate the clinical, immunological, and molecular manifestations of nuclear factor kappa-B subunit 2 (NFκB2) gene mutation associated common variable immunodeficiency (CVID) .@*Methods@#A 14-month-old boy diagnosed with NFκB2-mutated CVID was admitted into Children's Hospital of Chongqing Medical University in December 2015. The clinical manifestations, biochemical tests, immunological function, molecular features, treatment, and follow-up of the patient were analyzed. The Chinese and PUBMED databases were searched with the key words "NFκB2" and "immune deficiency" and related literatures were reviewed.@*Results@#The patient had 4 episodes of pneumonias and one otitis media since the age of 6 months. The serum immunoglobulin levels were IgG 2.73 g/L, IgA<0.07 g/L, and IgM 0.12 g/L. The percentage of peripheral lymphocyte subsets demonstrated increased CD3+T lymphocyte (81.8%), increased CD4+ naïve T cell (39.1%), normal B cell (14.1%), low switched memory B and plasmablast B (respectively 0.1% and 0), and lightly diminished natural killer(NK) cell (4.13%). Within the peripheral CD4+T cells, the percentage of regulatory T cells (1.49% (control 4.08%)), T follicular helper (3.66% (control 11.0%)), and T helper 17 (9.65% (control 15.7%)) were decreased, while the percentage of T helper 2 (60.9% (control 46.5%)) was elevated. T lymphocyte proliferative response and T cell receptor repertoire diversity were normal. NK-cell cytotoxic activity was impaired. The whole-exome sequencing harbored a de novo heterozygous nonsense mutation in exon 22 (c.2557C>T; p. Arg853X) in the C-terminus of NF-κB2. The western blotting confirmed the decreased expression of NF-κB2 (p52) protein. The patient received intravenous immunoglobulin infusion monthly (400-600 mg/kg), followed by improvement of pulmonary infection. After searching the databases, a total of 28 cases (1 Chinese and 27 non-Chinese) were identified. There were 12 cases of nonsense mutation (5 were gain-of-function mutation), and 8 cases of missense and frameshift mutations, respectively. The main clinical manifestation was respiratory infection, followed by autoimmune diseases such as alopecia and trachyonychia. Fifteen cases developed adrenocorticotrophic hormone (ACTH) deficiency.@*Conclusions@#NF-κB2 signaling pathway played an important role in T and B lymphocyte differentiation, and NK-cell cytotoxic activity. NFκB2 mutation should be considered in cases with recurrent infections, hypogammaglobulinemia, and decreased memory B cells and plasma cells, especially when combined with ACTH deficiency.

14.
Article in Chinese | WPRIM | ID: wpr-693038

ABSTRACT

Objective To investigate the relationship between the severity of white matter lesions (WMLs) and the hematoma volume in patients with spontaneous intracerebral hemorrhage. Methods Patients with intracerebral hemorrhage (age ≥40 years) who were included in the Image Registration Center, Drum Tower Hospital, Nanjing University School of medicine from June 1, 2012 to May 31, 2017 were enrolled retrospectively. The head CT and baseline head MRI data were collected within 12 h after onset. The volume of hematoma on the baseline CT was calculated using ITK-SNAP software. The WMLs volume was semi-automatically segmented and calculated in the WMLs area by MRIcron software and ITK-SNAP software. According to the Fazekas score, the severity of WMLs was divided into mild ( 0-2), moderate (3-4) and severe (5-6). According to the median volume of hematoma, the patients were divided into smaller hematoma volume group and larger hematoma volume group. The baseline data in patients of both groups were compared. Multivariate logistic regression analysis was used to determine the independent related factors of hematoma volume. Results Age, National Institutes of Health Stroke Scale (NIHSS) score, and hematoma volume increased with the severity of WMLs, while the total cholesterol and low-density lipoprotein cholesterol levels decreased with the severity of WMLs. Hematoma volume was significantly associated with the NIHSS scores, apolipoprotein A1, D-dimer, WML volume, and intracerebral hemorrhage site. Multivariate logistic regression analysis showed that high WML score (odds ratio [OR] 1.001, 95% confidence interval [ CI] 1.002-1.008; P=0.049), intracerebral hemorrhage site ( OR 1.441, 95% CI 1.090-1.911; P=0.010), and NIHSS score (OR 1.081, 95% CI 1.011-1.152; P=0.031) were the independent risk factors for larger hematoma volume. Conclusion The severity of WMLs was significantly positively correlated with the baseline hematoma volume in patients with spontaneous intracerebral hemorrhage.

15.
Article in Chinese | WPRIM | ID: wpr-711208

ABSTRACT

Objective To investigate the value of ultrasound screening for congenital cytomegalovirus (CMV) infection in fetuses and to summarize the clinical manifestations.Methods From January 2012 to December 2017,we retrospectively analyzed the clinical data of 905 gravidas who received invasive prenatal diagnosis in Fujian Provincial Maternity and Children's Hospital for abnormal prenatal ultrasound findings including ventriculomegaly,intracranial calcification,microcephaly,echogenic bowel and fetal growth restriction (FGR).CMV DNA loads in amniotic fluid and neonatal urine were detected by real-time polymerase chain reaction.CMV-specific IgM and IgG in umbilical cord and neonatal peripheral blood were detected by commercial enzyme 1 inked immunosorbent assay kits.Eighteen fetuses with normal karyotype were diagnosed as congenital CMV infection.Relationships of ultrasound features and CMV DNA loads in amniotic fluid to pregnancy outcomes were analyzed with x2 test or Fisher's exact test.Results (1) Congenital CMV infection was detected in 18 fetuses in this study with an detection rate of 1.99% (18/905).Three pregnancies were terminated immediately after the diagnosis was confirmed,two terminated when the ventriculomegaly progressed,five terminated for hydrocephaly and eight continued to delivery.(2) Congenital CMV infection rate was significantly higher in those with two or more ultrasound abnormalities than that in those with only one abnormal indicator [3.92%(8/204) vs 1.28%(9/701),x2=4.619,P=0.032].Fetuses with craniocerebral abnormalities were more likely to have congenital CMV infection than those without [3.11%(13/418) vs 0.82%(4/487),x2=6.392,P=0.012].(3) Among the 18 fetuses with congenital CMV infection,those with serious ultrasound abnormalities had a significantly higher rate of adverse outcomes than those without (11/11 vs 3/7,Fisher's exact test,bilateral P=0.043).No significant difference in the rate of adverse outcomes was found between fetuses with low and high CMV DNA loads in amniotic fluid (3/4 vs 12/14,Fisher's exact test,bilateral P=1.000).Conclusions Ultrasound abnormalities including ventriculomegaly,intracranial calcification,microcephaly,echogenic bowel and FGR,especially those with multiple abnormalities and brain abnormalities,increased risk of congenital CMV infection.Congenital CMV fetuses with serious ultrasound abnormalities has adverse outcomes.

16.
Article in Chinese | WPRIM | ID: wpr-510436

ABSTRACT

Objective To compare the effects of smoking and non smoking on postoperative pain of laparoscopic cholecystectomy. Methods Sixty patients having underwent selective laparoscopic cholecystectom were divided into smoking group and non smoking group by random digits table with 30 cases each. In smoking group, 14 cases quitted smoking within 1 week before operation. The Fagerstrom test of nicotine dependence (FTND) was evaluated before operation in smoking group, and FTND ≥ 6 scores was in 11 cases. The visual analog score (VAS), Bruggrmarm comfort score (BCS), sedation-agitation score (SAS), immediately, 15 min, and 30 min after entering postanesthesia care unit (PACU) and leaving PACU was evaluated. The operation time, anesthesia time, wake up time, extubation time, PACU time, using rate of remedial measures and untoward reaction were recorded. Results There were no statistical differences in operation time, anesthesia time, wake up time, extubation time, SAS and incidence of untoward reaction between 2 groups (P>0.05). The PACU time and using rate of remedial measures in smoking group were significantly higher than those in non smoking group:(39.7 ± 5.1) min vs. (31.3 ± 6.1) min and 30.0% (9/30) vs. 0, and there were statistical differences (P<0.05). The VAS immediately, 15 min and 30 min after entering PACU and leaving PACU in smoking group was significantly higher than that in non smoking group: (2.90 ± 0.85) scores vs. (1.00 ± 0.83) scores, (2.70 ± 0.47) scores vs. (0.73 ± 0.69) scores, (2.60 ± 0.56) scores vs. (1.13 ± 0.73) scores, (2.23 ± 0.57) scores vs. (1.13 ± 0.73) scores; and the BCS was significantly lower than that in non smoking group:(1.80 ± 0.61) scores vs. (2.90 ± 0.99) scores, (1.90 ± 0.31) scores vs. (2.87 ± 1.00) scores, (2.10 ± 0.31) scores vs. (2.47 ± 0.82) scores, (2.17 ± 0.38) scores vs. (2.47 ± 0.82) scores, and there were statistical differences (P<0.05). The VAS immediately after entering PACU in patients of FTND ≥ 6 scores was significantly higher than that in patients of FTND<6 scores:(3.6 ± 0.7) scores vs. (2.5 ± 0.7) scores, the BCS was significantly lower than that in patients of FTND <6 scores:(1.5 ± 0.5) scores vs. (2.0 ± 0.6) scores, and there were statistical differences (P<0.05). The VAS immediately after entering PACU in patients of non- quit smoking was significantly higher than that in patients of quit smoking: (3.4 ± 0.7) scores vs. (2.4 ± 0.6) scores, and there were statistical differences (P<0.05). Conclusions Smokers have more severe postoperative pain in laparoscopic cholecystectomy and higher postoperative opioid requirement than nonsmokers. Quit smoking before surgery will reduce postoperative pain and related complications. Appropriate increase of analgesic drugs can prevent postoperative pain in patients with smoking.

17.
Chinese Journal of Pediatrics ; (12): 30-36, 2017.
Article in Chinese | WPRIM | ID: wpr-810876

ABSTRACT

Objective@#To investigate the clinical and immunological laboratory features and gene mutation in a female patient who carried a germline gain-of-function mutation in STAT3.@*Method@#A patient with lymphadenopathy and pancytopenia, visited the Department of Rheumatology and Immunology of Children′s Hospital of Chongqing Medical University in May 2016. The clinical and laboratory characteristics, results of immunophenotyping and exome sequencing were analyzed retrospectively and related literature was reviewed.@*Result@#The patient was a four years old girl. The clinical manifestation consisted of autoimmune pancytopenia, lymphadenopathy and recurrent infections. Multiple exams showed that peripheral blood leukocyte count was (2.2-4.9)×109/L, red blood cell count was (2.09-5.75)×109/L, hemoglobin level was 64-165 g/L, platelet count was (52-138) ×109/L. Percentages of lymphocyte subsets showed that CD3+ T lymphocyte was 0.716 0 (CD4+ T lymphocyte was 0.326 0, CD8+ T lymphocyte was 0.323 0 and CD4- CD8-T TCRαβ+ lymphocyte was 0.029 0), CD19+ B lymphocyte was 0.235 0 (transitional B was 0.004 3), NK was 0.032 0. Percentages of CD4+ T lymphocyte release IL-4, IFN-γ, IL-17 and IL-21 were 0.014 9, 0.213, 0.024 0 and 0.021 0, respectively. Lymphocyte proliferation function and TCRVβ diversity were normal. The serum immunoglobulin levels were 16.4 g/L (IgG), 1.53 g/L (IgA), 3.99 g/L (IgM) and 3.20 kU/L (IgE). The patient carried a missense variant in the 21st exon of STAT3, c. 1974G>C, p.K658N, which was previously described as a gain-of-function mutation. The patient was treated with methylprednisolone and prednisone intermittently. There were significant improvements of hepatosplenomegaly, lymphadenopathy and pancytopenia. We searched internal database and literature for cases with gain-of-function mutations in STAT3. A total of 19 cases were identified, all were non-Chinese. Among 16 cases who had clinical data, age of onset of 11 patients was less than 5 years. 14 cases had autoimmune hemolytic anemia, autoimmune thrombocytopenia or autoimmune neutropenia. Twelve patients had lymphadenopathy while 11 had infections and 5 had endocrine abnormalities.@*Conclusion@#The patient with Primary immunodeficiency disease (PID) due to gain-of-function mutation in STAT3 gene often has early-onset autoimmune disorders, lymphadenopathy and recurrent infections. Since the routine immunological examination may be normal or slightly abnormal, comprehensive evaluation of immune function should be done. Genetic testing ultimately helps to confirm the diagnosis.

18.
Chinese Journal of Pediatrics ; (12): 377-382, 2017.
Article in Chinese | WPRIM | ID: wpr-808600

ABSTRACT

Objective@#To investigate the clinical and immunological laboratory features, mutations in SH2D1A gene and SAP protein expression in four children of two families with X-linked lymphoproliferative disease type 1(XLP-1).@*Method@#Four patients (Family A including Patient 1 and Patient 2, Family B including Patient 3 and Patient 4) and their maternal relatives were enrolled in this study. The clinical manifestation, EBV infection status and chest CT scan were analyzed. The absolute and relative numbers of lymphocyte subsets, T lymphocyte proliferative response, SAP protein expression were assessed by flow cytometry. Quantification of signal joint TCR rearrangementexcision circle (sjTRECs), CDR3 spectratyping of TCRvβ and gene mutation of SH2D1A were detected by PCR based on genomic DNA or cDNA.@*Result@#Four male patients from two families were diagnosed with XLP-1. The ages of disease onset were more than 1 year, more than 1 year, more than 1 month and 6 months. The ages at diagnosis were nine years and ten months, sixteen years and eight months, fourteen years and ten months, four years and nine months. All patients had recurrent infections and EBV infection. Patients 1, 2, and 3 had agammaglobulinemia and Patient 4 had hypogammaglobulinemia. Chest CT scan showed all patients had atelectasis and pneumonia, and Patient 3 had bronchiectasis. Patient 3 was diagnosised as Burkitt lymphoma. For immunological function, all patients exhibited reduced CD4/CD8 ratios, increased numbers of exhausted T lymphocyte, decreased number of NK cell. The numbers of total B lymphocyte and naïve B lymphocyte were normal, but the number of memory B lymphocyte declined in all cases. Four patients′ copy numbers of sjTRECs were low and CDR3 spectratypings of TCRvβ showed mildly skewed. But their T lymphocyte proliferative response was normal. SAP protein expression in four cases were measured by flow cytometry. Two patients from Family A were absent and two patients from Family B showed decreased values. SH2D1A gene sequence analysis showed that the patients of Family A harbored a nonsense mutation (c.163 C>T; p.R55X) in exon 2. Their mother and two sisters were carriers. A missense mutation of SH2D1A gene (c.278 G>A; p.G93D) in exon 3 was found in the patients of Family B. The mother was carrier. Four patients remain survived, Patient 3 gave up treatment, other three patients received IVIG therapy.@*Conclusion@#Four patients with XLP-1 from two families characterized by agammaglobulinemia have an extreme vulnerability to Epstein-Barr virus (EBV) infection. The functions of T cell, B cell and NK cell are impaired at different stages. The detection of SAP protein and SH2D1A gene are the key methods for diagnosis of XLP-1.

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Article in Chinese | WPRIM | ID: wpr-608430

ABSTRACT

Objective To investigate the effects of interleukin-17 (IL-17) on the cell proliferation, apoptosis and migration of human laryngeal carcinoma Hep-2 cells.Methods IL-17 was transiently transfected into Hep-2 cells, and at the same time empty vector group (pEGFP-N1) and normal control group were set up.The efficiency of transfection was evaluated by fluorescence microscope, and the mRNA and protein expressions of IL-17 were detected by reverse transcription-polymerase chain reaction (RT-PCR) and Western blotting.The proliferation of cells was detected by methyl thiazolyl tetrazolium (MTT) method, and the apoptosis was detected by flow cytometry.The migration ability was detected by wound-healing assay and Transwell assay.ResultsHep-2 cells transfected with empty vector pEGFP-N1 and IL-17 showed green fluorescence under the fluorescence microscope.Hep-2 cells expressed IL-17 at both mRNA and protein levels after transfection with IL-17.Compared with the normal control group, the proliferation of IL-17 transfected Hep-2 cells was significantly inhibited after 48 h transfection (0.34±0.03 vs.0.46±0.04, P=0.006).The apoptotic rate of IL-17 transfected cells was higher than that of normal control group (26.80%±0.80% vs.2.90%±0.31%, P=0.000).According to the wound-healing assay, compared with the normal control group, the scratch width of IL-17 transfected cells was significantly greater (1.59±0.01 vs.1.36±0.01, P=0.000).Transwell migration experiment showed that the migration of IL-17 transfected cells was significantly lower than that of the normal control group (26.33±2.08 vs.49.33±1.53, P=0.000).Conclusion IL-17 can inhibit the proliferation of human laryngeal carcinoma Hep-2 cells, reduce their migration ability and enhance their apoptosis ability.Therefore, IL-17 may inhibit the occurrence and development of laryngeal carcinoma through a variety of mechanisms.

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Article in Chinese | WPRIM | ID: wpr-620187

ABSTRACT

ObjectiveTo investigate the correlation between microalbuminuria (MA) and vascular dementia (VaD).MethodsThe patients with VaD and the age-and sex-matched controls were enrolled.The urinary albumin/creatinine ratio (UACR) was detected, and MA was defined as UACR 30-300 mg/g.The demographic and clinical data in both groups were compared, and multivariate logistic regression analysis was used to investigate the correlation between MA and VaD.ResultsA total of 45 patients with VaD and 58 inpatient controls without dementia during the same time period were enrolled.There were significant differences in age (82.36±7.68 years vs.78.57±9.46 years;t=-2.183, P=0.031), years of education (10.84±3.59 years vs.13.41±2.03 years;t=4.590, P<0.001), systolic blood pressure (137.11±14.31 mmHg vs.128.57±16.90 mmHg, 1 mmHg=0.133 kPa;t=-2.717, P=0.008), fasting glucose (5.75±1.01 mmol/L vs.5.22±1.25 mmol/L;t=2.344, P=0.021), glycosylated hemoglobin (6.35%±1.10% vs.6.00%±0.66%;t=1.950, P=0.05), and the proportions of hyperlipidemia (64.4% vs.39.7%;χ2=6.229, P=0.013), and positive MA (82.2% vs.25.9%, χ2=32.199, P<0.001) between the VaD group and the control group.Multivariate logistic regression analysis showed that hyperlipidemia (odds ratio [OR] 5.169, 95% confidence interval [CI] 1.243-21.494;P=0.024), fasting glucose (OR 3.090, 95% CI 1.317-7.247;P=0.009), glycosylated hemoglobin (OR 3.951, 95% CI 1.017-8.608;P=0.047) and MA (OR 7.220, 95% CI 1.912-27.266;P=0.004) were all independently correlated with VaD.Conclusions MA was closely associated with the occurrence of VaD.MA, fasting glucose, glycosylated hemoglobin, and hyperlipidemia were the independent risk factors for VaD.

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