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1.
International Journal of Biomedical Engineering ; (6): 390-394, 2022.
Artículo en Chino | WPRIM | ID: wpr-989277

RESUMEN

Objective:To understand the pathogen infection and epidemiological characteristics of children with diarrhea in Tianjin.Methods:Stool samples from 1 466 children with diarrhea in Tianjin Children's Hospital from August 2017 to July 2018 were collected, and all samples were tested for five intestinal-related pathogens (norovirus, rotavirus, Clostridium difficile toxin, adenovirus, and astrovirus). Results:Among the 1 466 samples, 627 samples were positive for nucleic acid detection of intestinal pathogens, with a positive rate of 42.8%. The detection rate of norovirus was the highest (26.3%), followed by rotavirus (15.3%), Clostridium difficile toxin (4.6%), adenovirus (4.1%), and astrovirus (1.84%). The infection has obvious seasonality. The positive detection rates of the five pathogens were similar among children of different sexes, and only the positive detection rates of norovirus and rotavirus were statistically significant among different ages ( P<0.05). There were 110 cases of mixed infection, and the mixed infection of norovirus and rotavirus was the most common, with a total of 37 cases. Conclusions:The pathogen spectrum of infant infectious diarrhea in Tianjin is complex and diverse, and the main pathogens are norovirus and rotavirus.

2.
Chinese Journal of Laboratory Medicine ; (12): 317-322, 2021.
Artículo en Chino | WPRIM | ID: wpr-885919

RESUMEN

Objective:To evaluate the prevalence of human rhinovirus (HRV) infection in hospitalized children in Tianjin and investigate the clinical impact of HRV infections.Methods:From July 2017 to December 2019, 2 945 nasopharyngeal secretion specimens were screened for HRV using polymerase chain reaction (PCR). VP4/VP2 sequences of HRV were further characterized. The clinical characteristics of the HRV infection were analyzed. The detection results of HRV for different groups and different months were compared using SPSS 19.0.Results:HRV-positive specimens accounted for 8.15% (240/2 945), of which 74.78% (86/115) were diagnosed with pneumonia, 40.83%(98/240) had co-infections with other common pathogens. HRV infections could be detected throughout the year with peaks in spring (11.00%, 66/660) and autumn (9.29%, 81/872). The positive rate of HRV was 4.14%(29/700) in winter. By VP4/VP2 sequence analysis, HRV-A was the most frequently detected strain(50.00%, 78/156), followed by HRV-C (41.67%, 65/156).46.15% (30/65) of HRV-C infections occurred in October and November. There were several different HRV-A types and HRV-C types. The most commonly detected HRV-A types were A12(11.54%, 9/78), A49(6.41%, 5/78), A22, A101, and A66(5.13%, 4/78), etc. The most common HRV-C types were C2(20.00%, 13/65), C22(9.23%, 6/65), C26, C43, C54 and C53(4.62%,3/65). Patients with HRV-A infections are more likely to show fever symptoms than HRV-C (χ2=5.411, P<0.05). No significant difference in other symptoms were found between the two types. Conclusions:HRV was a commonly detected virus among infants and had a clear seasonal distribution. It′s also possible for the HRV patients to have co-infections with other pathogens.HRV showed high genetic diversity.

3.
Chinese Journal of Laboratory Medicine ; (12): 304-309, 2021.
Artículo en Chino | WPRIM | ID: wpr-885917

RESUMEN

Objective:To analyze the epidemiological characteristics and molecular classification of Human adenovirus (HAdV) and Human bocavirus (HBoV) infection in hospitalized children with acute respiratory infection in Tianjin Children′s Hospital.Methods:A total of 1 171 nasopharyngeal aspirates were collected from children with acute respiratory infection in Tianjin Children′s Hospital from March 2019 to February 2020. The specific primers designed by gene sequence were amplified by polymerase chain reation (PCR), and the positive amplification products were determined by sequencing. The sequences of HAdV and HBoV were compared in GenBank, molecular typed and phylogenetic tree analyzed of HAdV by MEGA7.0.26. The positive rate of HAdV and HBoV in different age groups(<6 months, 6-11 months, 12-23 months, 24-35 months, 36-47 months, ≥48 months) and seasons were compared by SPSS20.0.Results:Thirty HAdV were detected in 1 171 specimens, with a positive rate of 2.56% (30/1 171) and 84 cases with HBoV, with a positive rate of 7.17% (84/1 171).The positive detection rates of HAdV and HBoV in different age groups were 1.02% (4/392)-6.61% (8/121) and 4.09% (7/171)-11.45% (26/227), respectively. There was a significant difference in the positive detection rate of HAdV and HBoV in each age group (χ2=12.862, P=0.025; χ2=14.178, P=0.015).Winter is the peak period of HAdV infection, with a positive rate of 5.54% (15/271). The peak of HBoV infection is autumn and winter with a positive rate of 12.00% (36/300) and 12.5% (34/271), respectively, higher than that of the other two seasons (χ2=43.753, P<0.05). There was a significant difference in different season groups (χ2=13.287, P=0.004; χ2=43.753, P<0.05). The sequences of 29 adenoviruses were HAdV-3, 7 serotypes of HAdV-B subgroup and HAdV-1, 2, 5 serotypes of HAdV-C subgroup. Conclusion:HAdV and HBoV play important roles in children′s respiratory tract infections, and are closely related to factors such as the season and the age of the child. They should attract clinical attention.

4.
Chinese Journal of Microbiology and Immunology ; (12): 380-387, 2021.
Artículo en Chino | WPRIM | ID: wpr-885686

RESUMEN

Objective:To investigate the prevalence and clinical characteristics of Mycoplasma pneumoniae( Mp) genotypes and subtypes in children in Tianjin. Methods:Children with pneumonia admitted to Tianjin Children′s Hospital from December 2017 to December 2019 were selected as the research objects. Bronchoalveolar lavage fluid was collected by fiberoptic bronchoscopy. The positive samples were detected by real-time fluorescent quantitative PCR and Mp culture. PCR-restriction fragment length polymorphism(RFLP) and multiple variable number tandem repeats were used for genotyping. Detailed clinical and laboratory data were collected for all cases. Results:The results of RFLP showed that there were 138 cases (78.9%) of typeⅠand 37 cases (21.1%) of type Ⅱ; 37 cases of type M3-5-6-2, including six subtypes B, G, M, S, V and Y; 138 cases of M4-5-7-2 were detected, including seven subtypes of E, J, P, U, X, Z and a. In M3-5-6-2 type, there were 1 case of P1-Ⅰtype (2.7%), 36 cases of P1-Ⅱtype (97.3%), 137 cases of P1-Ⅰ type (99.2%) and 1 case of P1-Ⅱ type (0.7%) in M4-5-7-2 type. There was no significant difference in genotype distribution among different age groups. There were statistical differences in the distribution of four seasons among the 13 genotypes of B, G, M, S, V, Y and E, J, P, U, X, Z, a. All Mp infected children had symptoms of fever and cough. The hospitalization time, fever duration, high fever (>39℃), cough duration, skin changes, digestive system symptoms and liver function injury rate of P1-Ⅰ/M4-5-7-2 pneumonia children were higher than those of P1-Ⅱ/M3-5-6-2 pneumonia children, but the difference was not statistically significant. The WBC count of P1-Ⅱ/M3-5-6-2 types was higher than that of typeⅠand M4-5-7-2; the LDH of P1-Ⅰ/M4-5-7-2 was higher than that of Ⅱ and M3-5-6-2, with statistical difference. There was no significant difference in the incidence of inflammatory consolidation, atelectasis, pleural thickening and pleural effusion among different genotypes. Conclusions:Mp infection in children with pneumonia in Tianjin is mainly P1-Ⅰ/ M4-5-7-2, and P1-Ⅱ is on the rise. P1-Ⅰ and M4-5-7-2 were associated with fever and severe symptoms.

5.
Chinese Journal of Microbiology and Immunology ; (12): 126-132, 2021.
Artículo en Chino | WPRIM | ID: wpr-885647

RESUMEN

Objective:To investigate the molecular epidemiological characteristics of norovirus (NoV) in hospitalized children with sporadic acute gastroenteritis in Tianjin in 2019.Methods:Fecal specimens and clinical data were collected from 3 116 hospitalized children with sporadic acute gastroenteritis possibly caused by viral infection in Tianjin Children′ Hospital between January and December, 2019. Real-time quantitative PCR was used to detect NoV. Partial sequences of RNA-dependent RNA polymerase (RdRp) and capsid genes of NoV were amplified by RT-PCR. Sequence alignment and phylogenetic analysis were performed for further analysis.Results:Among the 3 116 specimens, 809 (26.0%) were positive for NoV. There were significant differences in NoV detection rate between different age groups ( P=0.000), and the highest NoV detection rate (31.6%) was observed in the age group of 7-12 months. Moreover, the detection rate of NoV varied with seasons ( P=0.000), and the NoV detection rate was highest in winter (39.0%). Based on the sequence analysis of RdRp and capsid genes, 286 identified NoV strains belonged to six genotypes, which were GⅡ.P12-GⅡ.3, GⅡ.P16-GⅡ.2, GⅡ.P17-GⅡ.17, GⅡ.Pe-GⅡ.2, GⅡ.Pe-GⅡ.3 and GⅡ.Pe-GⅡ.4. The predominant genotype was GⅡ.Pe-GⅡ.4 Sydney 2012 (61.2%), followed by GⅡ.P12-GⅡ.3 (33.6%, 96/286), GⅡ.Pe-GⅡ.3 (2.4%, 7/286), GⅡ.P16-GⅡ.2 (2.1%, 6/286), GⅡ.Pe-GⅡ.2 (0.3%, 1/286) and GⅡ.P17-GⅡ.17 (0.3%, 1/286). Patients carrying the NoV of GⅡ.Pe-GⅡ.4 Sydney 2012 genotype were likely to suffer from vomiting than those positive for NoV of GⅡ.P12-GⅡ.3 genotype. Conclusions:NoV was an important pathogen causing acute gastroenteritis in children. GⅡ.Pe-GⅡ.4 Sydney 2012 and GⅡ.P12-GⅡ.3 were the major genotypes of NoV in hospitalized children with sporadic acute gastroenteritis in Tianjin in 2019.

6.
Chinese Journal of Laboratory Medicine ; (12): 570-575, 2020.
Artículo en Chino | WPRIM | ID: wpr-871931

RESUMEN

Objective:To analyze the molecular epidemiological characteristics of GⅡNorovirus (NoV) infection in children in Tianjin Children′s Hospital in 2018.Methods:Single center study. From January to December 2018, a total of 2 185 stool specimens were collected from the children with acute gastroenteritis suspected caused by virus infection in Tianjin Children′s Hospital. Norovirus was detected by real-time fluorescence reverse transcription polymerase chain reaction (RT-PCR).The capsid protein VP1(VP1) region of positive samples was amplified and sequenced. The phylogenetic tree was constructed by MEGA5.05 for analyzing the results. The detection of NoV in different age groups and different months were compared by SPSS 20.0.Results:Among the 2 185 stool specimens,610 were NoV positive, the positive rate was 27.9% (610/2 185).All of the positive samples were GⅡgenogroup. Seven genotypes were found, with GⅡ.3 subtype accounting for 46.2%(151/327),GⅡ.4 subtype accounting for 40.1%(131/327),GⅡ.2 subtype accounting for 4.6%(15/327), other subtypes accounting for 9.1%(30/327).There was a significant difference in NoV detection rate among different age groups (χ 2=17.050, P=0.002). Among the positive specimens, the detection rate of less than or equal to 3 years old was the highest which is accounting for 89.2%.Also there was a significant difference in NoV detection rate among different months(χ 2=225.153, P<0.001).November and December are the most frequent months. There was significant difference between GⅡ.3 and GⅡ.4 NoV infection in children with granulocytopenia (χ 2=11.270, P=0.001) , and also in children with respiratory symptoms (χ 2=7.257, P=0.007) . Conclusions:GⅡ.3 and GⅡ.4 were the main genotypes of NoV infection in children in Tianjin in 2018. The Multiple genotypes suggests that the monitoring and prevention of NoV infection in children should continue to be strengthened in the future.

7.
Chinese Journal of Medical Genetics ; (6): 1241-1243, 2020.
Artículo en Chino | WPRIM | ID: wpr-879475

RESUMEN

OBJECTIVE@#To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers.@*CONCLUSION@#The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.


Asunto(s)
Niño , Femenino , Humanos , Amidohidrolasas/genética , Pueblo Asiatico/genética , Exones , Errores Innatos del Metabolismo/genética , Mutación , Linaje
8.
Chinese Journal of Medical Genetics ; (6): 759-763, 2020.
Artículo en Chino | WPRIM | ID: wpr-826492

RESUMEN

OBJECTIVE@#To carry out genetic testing for two families affected with cobalamin C (cblC) and establish a rapid method for the detection of a hotspot pathogenic variant c.609G>A of the MMACHC gene by using a PCR-high-resolution melting curve (PCR-HRM) method.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Potential variants of the MMACHC gene was analyzed by Sanger sequencing. The c.609G>A variant of the MMACHC gene was screened among 100 healthy children with the PCR-HRM method.@*RESULTS@#Sanger sequencing revealed that proband 1 carried compound heterozygous variants c.394C>T and c.609G>A of the MMACHC gene, while proband 2 carried compound heterozygous variants c.482G>A and c.609G>A of the same gene. PCR-HRM analysis of the two probands and the 100 healthy children were consistent with the Sanger sequencing.@*CONCLUSION@#c.609G>A is a hotspot pathogenic variant of the MMACHC gene. The diagnosis of cblC may be rapidly attained through detection by PCR-HRM.

9.
Chinese Journal of Medical Genetics ; (6): 1009-1013, 2020.
Artículo en Chino | WPRIM | ID: wpr-827755

RESUMEN

OBJECTIVE@#To analyze the clinical and molecular characteristics of a child with very long chain acyl-CoA dehydrogenase deficiency (VLCADD).@*METHODS@#Peripheral blood sample of the patient was collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out for the proband. Suspected mutations were validated by Sanger sequencing.@*RESULTS@#The patient, a 12-month-old girl, was admitted for diarrhea, vomiting, fever, poor spirit and decreased blood pressure. During the course of the disease, she also manifested hypertrophic cardiomyopathy, cardiogenic shock, elevated myocardial enzyme kinase, fever and metabolic acidosis, and had died after three days due to ventricular tachycardia and respiratory failure. Genetic testing showed that she has carried heterozygous mutations of of the ACADVL gene, namely c.664G>A (exon 8) and c.1056_1057del (exon 10). Blood screening for metabolic genetic diseases showed increased C12, C14, C16, C18, C14:1, C14:2, C16:1, C4/C3 and C8/C3, accompanied with decreased C0, C0/C16 and C8/C10. VLCADD and secondary carnitine deficiency could not be excluded, which was in keeping with the result of genetic testing.@*CONCLUSION@#The child was diagnosed with VLCADD, which may be attributed to the compound heterozygous c.664G>A and c.1056_1057del variants of the ACADVL gene.

10.
Chinese Journal of Endocrinology and Metabolism ; (12): 21-25, 2019.
Artículo en Chino | WPRIM | ID: wpr-745680

RESUMEN

Objective To investigate the spectrum of CYP21A2 gene mutation and the correlation between genotype and phenotype in patients with 21-hydroxylase deficiency in Tianjin and surrounding areas.Methods Genomic DNA was extracted from the peripheral blood samples of the proband.Locus-specific PCR,direct sequencing of PCR amplification products,and multiplex ligation-dependent probe amplification were applied to detect pathogenic gene CYP21A2 and the relationship between genotypes and phenotypes was analyzed.Results (1) Of 35 patients with 21-hydroxylase deficiency,25 were classified as salt-wasting phenotype and 10 were simple virilizing phenotype.(2) 69 mutant alleles were detected in a total of 70 alleles in 35 patients.Only one mutant allele was detected in one patient.Two mutant alleles were detected in all other patients,with the mutation detection rate 98.6%.(3) A total of 6 types of mutations were detected,of which c.293-13C/A>G (I2G) was the most common,accounting for 57.1% (40/70),followed by 18.6% (13/70) for large gene deletion or conversion,and 14.3% (10/70) for p.I173N.In addition,a novel mutation,c.949C>T (p.R317X),which has not been reported previously,was detected as a pathogenic mutation.(4) Correlation analysis of genotype and phenotype in 35 children showed that the phenotype predicted by genotype was consistent with the actual salt-wasting phenotype in 31 children,and those in three children were inconsistent with the actual clinical phenotype.Conclusion The mutation characteristics of CYP21A2 gene in patients with 21-hydroxylase deficiency in Tianjin and surrounding areas are slightly different from those reported in other regions in China.A mutation c.949C>T has not been reported,which enriches the mutation spectrum of CYP21A2 gene and provide the foundation for genetic counseling and prenatal diagnosis.

11.
Chinese Journal of Medical Genetics ; (6): 890-892, 2019.
Artículo en Chino | WPRIM | ID: wpr-797488

RESUMEN

Objective@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*Methods@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*Results@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*Conclusion@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.

12.
Chinese Journal of Medical Genetics ; (6): 890-892, 2019.
Artículo en Chino | WPRIM | ID: wpr-776782

RESUMEN

OBJECTIVE@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*METHODS@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*RESULTS@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*CONCLUSION@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.


Asunto(s)
Femenino , Humanos , Masculino , Pruebas Genéticas , Deformidades Congénitas de la Mano , Genética , Deformidades Congénitas de las Extremidades , Genética , Proteínas de la Membrana , Genética , Linaje , Polidactilia , Genética , Pulgar , Patología
13.
International Journal of Biomedical Engineering ; (6): 109-114, 2019.
Artículo en Chino | WPRIM | ID: wpr-751596

RESUMEN

Objective To understand the infection status, epidemiological characteristics and genetic evolution of adenovirus in children with diarrhea in Tianjin. Methods A total of 1609 fecal specimens were collected from hospitalized children with diarrhea from July 2017 to July 2018 in Tianjin Children's Hospital. Viral nucleic acid was extracted and amplified by the hexon gene fragment. Positive specimens were used for nucleic acid sequence determination and sequence alignment and phylogenetic tree analysis with known sequences in GenBank. Rotavirus in the stool specimens was detected by gold standard method, and campylobacter was detected by latex agglutination method. Bocavirus, Norovirus and Clostridium difficile were detected by quantitative real-time polymerase chain reaction (qRT-PCR). Results A total of 69 specimens with adenoviruses were detected in 1609 cases, with a positive rate of 4.3%, in which 82.6%adenovirus-positive children were between 7 and 48 months old. The positive rate of adenovirus peaked in the summer and autumn, and the differences of this value among seasons were statistical significance (χ2=11.467,P=0.009). In these cases, the mixed infection rate of adenovirus was 26.1%(18/69), in which 7 cases were mixed with Norovirus, 7 cases were mixed with rotavirus and 4 cases were mixed with Clostridium difficile. A total of 39 adenovirus-positive PCR products were randomly selected for gene sequence detection, and 7 adenovirus genotypes were detected. Results showed that these viruses were mainly the type 41 enteric adenovirus (46.1%, 18/39), followed by type 31, type 3 and type 7 non-intestinal adenovirus, while types 1, 5 and 6 were relatively rare. Conclusions There are diverse types of adenovirus in children with diarrhea in Tianjin. The adenovirus-infected diarrhea mostly happen in summer and autumn, and is common in children.

14.
Chinese Journal of Laboratory Medicine ; (12): 770-774, 2018.
Artículo en Chino | WPRIM | ID: wpr-712209

RESUMEN

Objective To assess the ability of simultaneous amplification and testing ( SAT ) in bacteria detection , bronchoalveolar lavage fluid from children was collected and detected by SAT , combined with in vitro culture experiment , providing theoretical support for the application of SAT in the diagnosis and treatment of mycoplasma pneumonia ( MP ) .Methods A total of 572 bronchoalveolar lavage fluid from children with community acquired pneumonia during October 2015 and December 2017 in Tianjin Children′s Hospital were collected and detected by Mycoplasma pneumonia ( MP ) nucleic acid quantitative assay and SAT technology.Among them, 161 bronchoalveolar lavage fluid were also detected using in vitro culture and the positive ones for MP were analyzed by nucleic acid quantification and SAT after exposing to high concentration of antibiotic .Results The positive rates of MP by nucleic acid quantitative assay and SAT technology in 572 samples were 74.7% (427/572) and 71.9% (411/572), respectively.These two detection methods have high consistency (χ2 =1.142,P=0.285).According to the test results of SAT , the positive rates of male and female were 72.7%(224/308) and 70.8%(187/264), respectively.There was no significant difference of positive rate between different sex (χ2 =0.252, P=0.616).The positive rate of MP in 4-14 years old children (78.1%, 317/416) was higher than that in infants (≤3 years) (56.6%, 94/166) (χ2 =26.811, P=0.000).After adding azithromycin (5 MIC) to MP positive medium for 5 days, the result of nucleic acid quantification was positive but SAT was negative .Conclusions SAT technology is a rapid, sensitive and specific method for detection of MP .In addition, SAT technology could identify the "dead" and"live" bacteria and could evaluate the effect of clinical treatment effectively .

15.
Chinese Journal of Endocrinology and Metabolism ; (12): 50-52, 2018.
Artículo en Chino | WPRIM | ID: wpr-709904

RESUMEN

The blood samples of 102 type 1 diabetic children aged under 15 years and 127 normal children were collected and their genomic DNAs were extracted. The single nucleotide polymorphisms rs1990760 and rs35744605 of interferon induced with helicase C domain 1(IFIH1)gene were detected. The results showed that the allele of IFIH1 rs35744605 in diabetes group and control group was the wild type G allele. The frequency of IFIH1 rs1990760 A allele in diabetes group was higher than that in control group(22. 1% vs 13. 0% ,P=0. 015), suggesting that IFIH1 rs1990760 A allele is associated with type 1 diabetes in Tianjin area.

16.
Chinese Journal of Medical Genetics ; (6): 824-827, 2018.
Artículo en Chino | WPRIM | ID: wpr-775828

RESUMEN

OBJECTIVE@#To explore the molecular etiology for a Chinese family affected with beta-ureidopropinoase deficiency.@*METHODS@#Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. The pathogenicity of identified mutation was analyzed using Polyphen2 and SIFT software.@*RESULTS@#Compound heterozygous mutations of the UPB1 gene, including c.853G>A (p.A285T) and c.917-1G>A, were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that this novel mutation was damaging.@*CONCLUSION@#The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in the infant. Discovery of c.853G>A also enriched the mutation spectrum of the UPB1 gene.


Asunto(s)
Humanos , Lactante , Anomalías Múltiples , Genética , Amidohidrolasas , Genética , Pueblo Asiatico , Encefalopatías , Genética , China , Exones , Intrones , Trastornos del Movimiento , Genética , Mutación , Linaje , Errores Innatos del Metabolismo de la Purina-Pirimidina , Genética
17.
Chinese Journal of Medical Genetics ; (6): 6-9, 2017.
Artículo en Chino | WPRIM | ID: wpr-345336

RESUMEN

<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.</p><p><b>RESULTS</b>The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.</p><p><b>CONCLUSION</b>The novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.</p>


Asunto(s)
Femenino , Humanos , Lactante , Masculino , Errores Innatos del Metabolismo de los Aminoácidos , Etnología , Genética , Secuencia de Aminoácidos , Pueblo Asiatico , Genética , Secuencia de Bases , China , Análisis Mutacional de ADN , Métodos , Discapacidades del Desarrollo , Etnología , Genética , Exones , Genética , Salud de la Familia , Heterocigoto , Intrones , Genética , Mutación , Homología de Secuencia de Aminoácido , Succionato-Semialdehído Deshidrogenasa , Genética
18.
Chinese Journal of Applied Clinical Pediatrics ; (24): 447-450, 2017.
Artículo en Chino | WPRIM | ID: wpr-514207

RESUMEN

Objective To explore the changes in inositol requiring enzyme 1 (IRE1),apoptosis signal regulating kinase 1 (ASK1) and c-Jun N-terminal kinase (JNK) mRNA levels in peripheral blood CD4+ T cells of children with acute paraquat (PQ) poisoning.Methods Blood samples of 30 cases of acute PQ poisoning (PQ group),who visited Tianjin Children's Hospital from June 2014 to June 2016,with 18 male and 12 female,aged from 2 to 14 years old,were collected,and the clinical and laboratory data were documented.Peripheral venous blood samples were collected after paraquat was taken.Thirty healthy children at the same age and of the same sex were selected as a healthy control group,18 male and 12 female,aged from 2 to 14 years old.CD4+ T cells in the peripheral blood were separated,and IRE1,ASK1 and JNK mRNA levels in peripheral blood CD4+ T cells were measured by real time polymerase chain reaction (Real-time PCR) method.Specificity of PCR products was validated through agarose gel electrophoresis.The data were statistically analyzed by SPSS 13.0 software.Results All of the 30 children had mucosal lesions,nausea,vomiting and abdomen pain,19 cases with oliguria and anuria,16 cases with alimentary tract bleeding,12 cases with headache and dizziness,11 cases with short of breath,dyspnea and difficult breathing,8 cases with convulsion,5 cases with jaundice.The IRE1,ASK1 and JNK mRNA levels in PQ group were significantly higher than those in healthy control group (1.70 ± 0.16 vs.1.02 ± 0.18,3.56 ± 0.85 vs.1.05 ± 0.31,5.22 ± 0.87 vs.1.01 ± 0.33,t =15.26,15.21,24.78,all P < 0.01).Conclusions PQ increased the expressions of IRE1,ASK1 and JNK in peripheral blood CD4+ T cells,which may be related to PQ-induced oxidative stress and immune activation and lead to a complex cytokine network via endoplasmic reticulum stress and CD4+ T cell apoptosis and then results in the occurrence and development of multiple organ failure.

19.
Chinese Journal of Laboratory Medicine ; (12): 367-371, 2017.
Artículo en Chino | WPRIM | ID: wpr-608447

RESUMEN

Objective To explore pathogenic composition of hand,foot and mouth disease(HFMD),and the molecular typing of enterovirus in Tianjin Children′s Hospital in 2016.Methods Single center study.A total of 327 samples of HFMD cases which collected from Tianjin Children′s Hospital from March to November in 2016 were tested for nucleotide acid of enterovirus(EV),human enterovirus 71(EV71),Coxsackievirus A 16(CA16)by real-time reverse transcription polymerase chain reaction(RT-PCR),among which 104 sample of other EV positive were selected to amplify and sequence the whole VP1 region by using RT-PCR.Homology was analyzed and phylogenetic tree were constructed by comparison of the sequence with all subgenotype of EV by Chromas1.62 and MEGA6.06.EV positive rate in different age groups were compared by SPSS20.0.Results Of all the 327 HFMD cases tested,there were 272 EV positive cases,the constituent ratio of EV71,CA16 and other EV were 55.1%(150/272),6.6%(18/272)and 38.2%(104/272)respectively.The EV positive rates of different age groups(69.0%-90.9%)were different significantly(x2=15.897,P=0.044),the 3 years-old-group had the highest EV positive rate than that of the other age groups(90.9%,40/44).Of all 104 samples of other EV tested,34 were CA10(12.5%)and 14 were CA6(5.1%).Phylogenetic analysis of 11 EV71 VP1 and 20 CA10 VP1 showed that the EV71 and CA10 strains belonged to genotype C4a and genotype G,respectively.ConclusionsEV71 was still the predominant pathogen in spite of the constituent ratio of other EVs increased markedly in 2016 in Tianjin.It is important to enhance etiological monitoring for control and prevention of HFMD.

20.
Tianjin Medical Journal ; (12): 1164-1168, 2016.
Artículo en Chino | WPRIM | ID: wpr-498755

RESUMEN

Objective To investigate prevalence and epidemiologic features of Saffold virus (SAFV) in hospitalized children with acute respiratory infection or digestive tract infection Tianjin area. Methods Nasopharyngeal aspirates from children with acute respiratory infection and fecal samples from children with digestive tract infection in Tianjin Children ’s Hospital were collected from January 2013 to December 2013. Viral nucleic acid was extracted, and SAFV infection was determined by using real-time quantitative PCR. Positive PCR products were sequenced. The sequencing results were aligned with known gene sequences of SAFV sequences in GenBank. The positive viral infection rate of nasopharyngeal aspirates and fecal samples, viral positive constituent ratio and positive detection rate in different age groups, seasonal distribution of SAFV infection were calculated. Other common respiratory tract or digestive tract viruses were also detected. Results Fourty-three (11.9%) nasopharyngeal aspirates from children with acute respiratory infection tested positive for SAFV. There was no significant difference between male and female infected children (aged between 6 d and 12 years old). The 79%(34/43) of the patients with SAFV infection aged under 1 year old. The infection most occurred in summer and winter. The 63 (16.4%) fecal samples from children with digestive tract infection tested positive for SAFV. There was significant difference between male and female infected children (aged between 5 h and 11 years old). SAFV infection was found to be year round. There was no significant difference in different age groups of nasopharyngeal aspirates and fecal samples. The mixed infection rate with SAFV and other respiratory tract or digestive tract viruses were 7.0%(3/43)and 12.7%(8/63), respectively. Conclusion Infection of SAFV had occurred in children with acute respiratory infection or digestive tract infection in Tianjin. SAFV has high detection rate in these children and is more common in children aged under 1 year old. The data suggest that some of acute respiratory infection or digestive tract infections in pediatric patients are related to SAFV. The Clinical doctors should pay attention to them .

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