1.Investigation on influence factors of pathogenic bacterial detection results in children lower respiratory tract infections
Xiaohua YANG ; Nan TAN ; Aixin LIN ; Weishan WANG ; Jianfeng CHEN
International Journal of Laboratory Medicine 2017;38(10):1327-1328,1332
Objective To investigate the distribution characteristics of pathogenic bacteria among different seasons and ages in children lower respiratory tract infection.Methods To retrospectively analyze the results of bacterial culture in pediatric outpatients and inpatients with lower respiratory tract infections in our hospital from September 2014 to August 2015.The pathogenic bacterial detection situation of lower respiratory tract infection among different age groups and different were statistically analyzed.Results A total of 2 809 pathogenic bacterial strains were isolated from 4 629 lower respiratory tract specimens,and detection rate was 60.7%.The pathogenic bacteria distribution was different among different age groups.Haemophilus influenzae (33.3%) ranked the first place in the lower respiratory infection among children aged from 19 d to 7 year old.The detection rates of Haemophilus parainfluenzae,Moraxella catarrhalis and staphylococcus aureus had obvious seasonality,while Streptococcus pneumoniae had no obvious seasonality.Conclusion Pathogenic bacteria causing lower respiratory tract infections in children are different from those in adults,which are affected by age and seasonal change.
2.Effect of the mixture of radix sophorae flavescentis on cellular immunologic response in rats with immunosuppressant-induced pneumocystis carinii pneumonia induced
Guogang YANG ; Yuanfang CHEN ; Aixin MA ; Fang FANG ; Xiaohong JU
Chinese Journal of Tissue Engineering Research 2007;0(12):-
AIM: To study the effect of the radix sophorae flavescentis on cellular immunity in rats with Pneumocystis Carinii Pneumonia (PCP) induced by long-term use of immunosuppressant, and explore the action of traditional Chinese medicine for the immunological regulation and infectious prevention after organ transplantation. METHODS: The experiment was conducted at Department of Pathobiology, Jilin Medical College from May 2005 to March 2006. Forty adult healthy female SD rats were selected from Harbin Medical University (Certification: 02473146) and randomly divided into experiment group and control group, with 20 rats in each. The model of PCP was set up by glucocorticoid injection subcutaneously to SD rats (25 mg once, 2 times/week). The mixture of sophorae flavescentis was given to stomach with tube in experiment group (3 mL/kg, 2 times/day), and was consisted of radix sophorae flavescentis, ash bark, amur cork-tree, malt, milkvetch root and danshen root. Six weeks later, all the rats were anesthetized and broncholveolar lavage fluids were collected.①Alveolar washing fluid was concentrated 10 times and the levels of the soluble interleukin-2 receptor (sIL-2R) were examined by double antigen sandwich ELISA.②Blood was sampled from rat eyes and the count of lymphocytes in peripheral blood were detected.③The percentages of CD3+ and CD4+ subgroups were assessed with erythrocyte chaplet kit sensitized by antigen. RESULTS: All 40 rats were involved in the result analysis without drop.①The count of lymphocytes in peripheral blood in experiment group was significantly higher than that in control group (5.1?1.3)%, (0.8?0.3)%, P
3.A group of monoclonal antibodies reactive with the human thymocyte differentiation antigens-Production and specificity analysis
Decheng SHEN ; Zhang CHEN ; Aixin YU ; Yihai CAO ; Jinfen BAI ; Huishu CHEN ; Ming SHE ; Tao ZHONG
Chinese Journal of Immunology 1985;0(06):-
In a fusion of BABL/C murine spleen cells immunizated with human fetal thymocytes and P_3X_(3)Ag_(,3), myeloma cells, six monoclonal antibodies(McAb) were produced. They were termed HIT_1. HIT_2. HIT_3. HIT_4.HIT_(6-1) and HIT_(6-2), respectively. The specificity of these McAbs were analysed by indirect immunofluorescence technique and FACS.Results showed that they reacted with 80~90%thymocytes,but hardly with peripheral blood mononuclear cells and spleen cells in adults,and nonreactive with red blood cells, granulocytes and platelets, According to their reaction with the tonsil cells, we can divide these six McAbs into three groups: Groupl including HIT_1, HIT_2, and HIT_(?) McAbs reacted approximately with 1/3 tonsil cells; basically GroupⅡ including HIT_(6-1) and HIT_(6-2) McAbs gave negative reaction with tonsil cells; GroupⅢ McAb HIT_4 reacted with 15% tonsil cells, which suggested these were a heterogeneous group McAbs with different specificities. In comparision with OKT series of McAbs in thymus, peripheral blood and tonsil, HIT_(1-3) are similar to OKT_(10) and,HTT6-l and HIT_(6-2) are just like OKT_6,but HIT_4 seems to be a new McAb different frOm HIT_(1-3) and HIT_(6-1) HII_(6-2). The competitive binding assay showed that HIT_(6-1) and HIT_(6-2) labeled with FITC can be inhibited by unlabeled HIT_(6-1) and HIT_(6-2) each other and can also be blocked by OKT_6, suggesting further these antibodies recognized a same epitope on thymocytes. Cross reaction were also demonstrated on HIT_1, and HIT_2 but not on HIT_3, suggesting HIT_1 and HIT_2 recognized the same determinant and HIT_3 recognized another. So six antibodies are McAbs against T cell differentiation antigens.They are useful for research the differentiation of T cells and the classification of malignant lymphadenosis diseases.
4.Effects on self renewal of pancreatic cancer stem cells by inhibiting hedgehog signal pathway
Fengting HUANG ; Shineng ZHANG ; Aixin LIANG ; Shuli WEI ; Xiaohong ZHUANG ; Wenbo CHEN
Chinese Journal of Pancreatology 2011;11(2):92-94
Objective To investigate the effects on self-renewal of pancreatic cancer stem cells by inhibiting hedgehog signaling pathway through cyclopamine. Methods PANC1 stem cells, PANC1 adherent cells and immortalized pancreatic ductal epithelial H6C7 cells were treated with 0.5, 1, 2, 5, 10 mol/L of cyclopamine for 24, 48, 72 h. The expression of Smo mRNA and Gli1 mRNA were detected by real-time PCR.Cell growth viability was measured by CCK 8. Cell cycle and apoptosis were determined by flow cytometry.Results Seventy-two hours after cyclopamine treatment, the Smo mRNA expressions of PANC1 stem cells,PANC1 adherent cells and H6C7 cells were 1,0.83 and 2.61; the expressions of Gli mRNA were 57.27,26.35,1; the inhibitory rates were ( 37.85 ± 13.69 ) %, ( 8.53 ± 4.43 ) %, (43.55 ± 28.98 ) %. Compared with PANC1, the expressions of Smo mRNA, Gli1 mRNA and the inhibitory rate of PANC1 stem cells significantly increased ( P < 0.05 ). The proportion of G1 stage of PANC1 stem cells significantly decreased from (67.41 ±6.35)% to (36.53 ±6.03)% (P <0.05), and the apoptosis decreased from (10.95 ±5.68) % to ( 5.73 ± 1.42 ) % ( P > 0.05 ). The proportion of G1 stage of PANC1 cells significantly decreased from ( 67.64 ± 6.88 ) % to ( 53.13 ± 1.10 ) % ( P < 0.05 ); the apoptosis decreased from ( 12.08 ±4.12)% to (5.66 ± 1.33)% (P >0.05). While both the proportion of G1 stage and apoptosis of H6C7 cells was not significantly different. Conclusions Cyclopamine can inhibit the proliferation of PANC1 stem cells via blocking hedgehog signal pathway, and the mechanism may not be associated with cell apoptosis.
5.Analysis of clinical manifestation and a mosaic frameshift variant of the KMT2D gene in a Chinese patient with Kabuki syndrome.
Jianhua LUO ; Qingming WANG ; Shuangxi CHENG ; Aixin CHEN ; Haiming YUAN
Chinese Journal of Medical Genetics 2021;38(9):861-864
OBJECTIVE:
To explore the genotype-phenotype correlation in a child with Kabuki syndrome type 1 (KS1) caused by a mosaic frameshift variant of KMT2D gene.
METHODS:
Trio-based whole exome sequencing (WES) was carried for the patient and her parents. Candidate variant was verified by Sanger sequencing.
RESULTS:
The proband, a 3-year-and-2-month-old Chinese girl, presented with distinctive facial features, cognitive impairment, mild developmental delay, dermatoglyphic abnormalities, minor skeletal anomalies, ventricular septal defect, and autistic behavior. Trio-based WES revealed that the proband has carried a de novo mosaic frameshit variant of the KMT2D gene, namely NM_003482.3:c.13058delG (p.Pro4353Argfs*31) (GRCh37/hg19), for which the mosaicism rate was close to 21%. The variant was unreported previously and was confirmed by Sanger sequencing. Chromosomal microarray analysis (CMA) has revealed no pathogenic or likely pathogenic copy number variations. Compared with previously reported cases, our patient has presented obvious behavior anomalies including autism, anxiety and sleep problems, which were rarely reported.
CONCLUSION
This study has expanded the spectrum of KMT2D gene variants, enriched the clinical phenotypes of KS1, and facilitated genetic counseling for the family.
Abnormalities, Multiple
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China
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DNA Copy Number Variations
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DNA-Binding Proteins/genetics*
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Face/abnormalities*
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Female
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Hematologic Diseases
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Humans
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Infant
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Neoplasm Proteins/genetics*
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Phenotype
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Vestibular Diseases
6.Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations.
Shuangxi CHENG ; Qingming WANG ; Xiaochun HONG ; Aixin CHEN ; Haiming YUAN
Chinese Journal of Medical Genetics 2022;39(3):312-315
OBJECTIVE:
To explore the genetic basis for a child featuring complex cortical dysplasia and other brain malformations (CDCBM3).
METHODS:
Genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out for the family trio. Suspected variant was verified by Sanger sequencing.
RESULTS:
The proband, a 1-year-and-2-month old Chinese boy, had presented with motor developmental delay, lissencephaly, severe cognitive impairments, absent speech and congenital laryngomalacia. WES revealed that he has harbored a heterozygous missense variant of the KIF2A gene, namely NM_001098511.2: c.952G>A, p.Gly318Arg (GRCh37/hg19). The highly conserved residue is located around the ATP nucleotide-binding pocket in the kinesin motor domain (PM1). The variant was not found in the Genome Aggregation Database and the 1000 Genomes Project (PM2), and was predicted to be deleterious on the gene product by multiple in silico prediction tools (PP3). This variant was unreported previously and was de novo in origin (PS2). Based on the ACMG guidelines, it was categorized as likely pathogenic (PS2+PM1+PM2+PP3). Furthermore, the congenital laryngomalacia found in our patient was absent in previously reported CDCBM3 cases.
CONCLUSION
The novel variant of the KIF2A gene probably underlay the disorders in the proband. Above finding has expanded the phenotypic and mutational spectrum of CDCBM3.
Asians/genetics*
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Brain
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China
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Humans
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Infant
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Kinesins/genetics*
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Male
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Malformations of Cortical Development/genetics*
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Whole Exome Sequencing
7.Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis.
Shuangxi CHENG ; Qingming WANG ; Aixin CHEN ; Lingfang ZHOU ; Xiaochun HONG ; Haiming YUAN
Chinese Journal of Medical Genetics 2022;39(5):537-541
OBJECTIVE:
To explore the genotype-phenotype correlation of a case with GM1-gangliosidosis caused by compound heterogenic variants in GLB1.
METHODS:
Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Trio-based whole-exome sequencing (WES) was performed for the family and suspected mutation was verified by Sanger sequencing.
RESULTS:
The proband, a 2-year-3-month old Chinese girl, presented with psychomotor deterioration, absent speech, intellectual disabilities and behavior problem. Trio-based WES has identified compound heterozygosity for 2 variants in the GLB1 gene: NM_000404.2:c.1343A>T, p.Asp448Val and c.1064A>C, p.Gln355Pro (GRCh37/hg19),which was inherited from the mother and father, respectively. Homozygous or compound heterozygous pathogenic variants in GLB1, encoding β-galactosidase, are responsible for GM1-gangliosidosis,an autosomal recessive lysosomal storage disorder characterized by variable degrees of neurodegeneration and skeletal abnormalities. The p.Asp448Val variant has been classified as pathogenic for GM1 gangliosidosis in medical literatures for the reason that functional studies demonstrated that expression of the p.Asp448Val variant in COS-1 cells resulted in no detectable β-galactosidase activity compared to wild type GLB1. The p.Gln355Pro variant has not been reported in literatures or database. The variant is highly conserved residue (PM1), and was not found in either the Genome Aggregation Database or the 1000 Genomes Project (PM2) and was predicted to have a deleterious effect on the gene product by multiple in silico prediction tools (PP3). Next, the β-galactosidase activity of the patient's peripheral blood leukocytes was determined by fluorescent method. The result was 0.0 nmol/mg. It showed that the p.Gln355Pro variant also resulted in loss of β-galactosidase activity, thus the variant was classified into clinical pathogenic variant.
CONCLUSION
Our study expands the mutational spectrum of the GLB1 gene and provides genetic counseling for the family.
Asians/genetics*
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China
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Female
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G(M1) Ganglioside
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Gangliosidosis, GM1/genetics*
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Humans
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Mutation
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beta-Galactosidase/genetics*
8.Investigation of ametropia in primary school students from first to third grade in Kashgar city
Wumer AIZIZ ; Aixin JIANG ; Lingling XIE ; Shujuan CAO ; Wensi CHEN ; Daoman XIANG
Chinese Journal of Experimental Ophthalmology 2021;39(12):1080-1085
Objective:To investigate the differences in ametropia among school-age children and between Han and Uygur ethnic groups in the main urban area of Kashgar, and to understand the epidemiological characteristics of myopia among children in Kashgar.Methods:A cross-sectional study was conducted.Random stratified sampling method was used to select the first to third grade students from 6 primary schools in the main urban areas of Kashgar, Xinjiang, from April to June 2018.Visual acuity was examined by the international standard visual acuity chart and refraction was detected by the automatic computer refractometer without cycloplegia.The subjects were classified into low vision (uncorrected visual acuity<0.8 in either eye), hyperopia≥2.00 D, myopia≥-1.00 D, astigmatism≥1.00 D and anisometropia≥1.00 D according to examination results.The percentage of different refraction states and percentage of different ethnic groups among myopic students in the three grades were analyzed.The study protocol was approved by an Ethics Committee of The First People's Hospital in Kashgar ([2021] QSY No.81).Results:A total of 6 108 students were enrolled, among which, there were 3 119 males and 2 989 females, 3 395 Uygur and 2 713 Han people, 2 016 first grade, 2 155 second grade and 1 937 third grade students.The detection rate of low vision was 13.5% (825/6 108) in the whole, 21.5% (584/2 713) in the Han people and 7.1% (241/3 395) in the Uygur people, 8.8% (176/2 016) in the first grade, 11.8% (254/2 155) in the second grade and 20.4% (395/1 937) in the third grade.The detection rate of myopia was 9.9% (606/6 108) in the whole, 17.6% (477/2 713) in the Han people and 3.8% (129/3 395) in the Uygur people, 4.4% (89/2 016) in the first grade, 8.1% (174/2 155) in the second grade and 17.7% (343/1 937) in the third grade.There were significant differences in percentage of low vision, myopia, astigmatism and anisometropia among different grades and between the two nationalities (all at P<0.001), and no significant difference in the percentage of hyperopia was found (P>0.05).Conclusions:The percentage of visual abnormalities and myopia in the first to third grade children in Kashgar is lower than the national average, but the percentage is gradually increasing with age.The percentage of visual abnormalities and myopia among Han pupils is close to the national average, and far higher than that of Uygur pupils.
9.Surveillance of antimicrobial resistance in the Streptococcus pneumoniae strains isolated from respiratory tract of children
Xiaohua YANG ; Yanhui CHEN ; Dongmei SHI ; Nan TAN ; Guilan WANG ; Aixin LIN ; Chunlei YUAN ; Jianming PENG ; Fengjuan CAI
Chinese Journal of Infection and Chemotherapy 2018;18(3):292-296
Objective To investigate the antimicrobial resistance profile of the Streptococcus pneumoniae strains isolated from respiratory tract of children in Zhongshan Boai Hospital, Guangdong Province for better management of such infections. Methods The sputum samples were collected from respiratory tract of children in pediatric outpatient and inpatient from May 2013 to August 2017. S. pneumoniae strains were isolated and identified and their susceptibility to antimicrobial agentswas determined. Results The prevalence of S. pneumoniae was 10.6% (2 963/28 006) in the sputum samples. S. pneumoniae was mainly isolated from children under 6 years old, and relatively higher in winter and spring. About 43.0% of the S. pneumoniae isolates was associated with mixed infection, especially Moraxella catarrhalis and Haemophilus influenzae. About 6.0% of the S. pneumoniae isolates were non-susceptible to penicillin, 59.3% non-susceptible to ceftriaxone, and more than 95% non-susceptible to erythromycin, clindamycin or tetracycline. However, more than 95% of the isolates were susceptible to chloramphenicol or ofloxacin. No S. pneumoniae isolate was found resistant to rifampin, linezolid or vancomycin. Conclusions The respiratory tract infection caused by S. pneumoniae of children is increasing year by year, which is associated with age, season, and higher rate of mixed infection. These data showed that penicillin non-susceptible S. pneumoniae is highly prevalent in Zhongshan. More than 95% of the S. pneumoniae isolates from children are resistant to erythromycin, clindamycin or tetracycline. S. pneumoniae isolates should be closely monitored for the emergence of multidrug resistant strains. Appropriate control measures must be taken according to the results of susceptibility testing.