1.Role of tryptophan catabolism in pediatric allergic diseases
International Journal of Pediatrics 2018;45(2):153-155
With the change of environment and life-style,the incidence of allergic diseases in children is increasing,but its pathogenesis is not entirely elucidated.It is shown that tryptophan catabolism mediated by indoleamine 2,3-dioxygenase plays a significant role in the pathophysiology of allergic diseases of children such as asthma and allergic rhinitis.These roles include inducing Treg cell,inhibiting Th2 cell response,mediating immune tolerance and so forth.Therefore,it is a new target for the prevention and treatment of allergic diseases by stimulating the immune cells and changing the diet structure to regulate tryptophan catabolism.This article reviews the role of tryptophan decomposition in children allergic diseases.
2.Research progress of health promoting lifestyle among nursing college students
Shimin ZHONG ; Yuanyuan HAN ; Xuan LEI
Chinese Journal of Practical Nursing 2017;33(31):2470-2472
Nursing students is the reserve force of nursing career, undertaking the duty of promoting the patients'health in the future,whose lifestyles will not only affect their own health,but also affect the health of others.This paper reviews the relevant literature,demonstrating that nursing students′health promoting lifestyles are in the general level as a whole.The determining factors of health promoting lifestyle include cognitive-perceptual factors and correction factors.So as for the influencing factors of the healthy promoting lifestyles of nursing students, researchers can make experimental research on other possible factors as well,or further explore the influencing factors through interviews,observation and other methods,and combine with the following overview for practical guidance.
3.Study on correlation between FeNO, bronchial hyperresponsiveness and asthma control in preschool children
Jing ZENG ; Qi HU ; Shimin ZHONG ; Wenting FAN ; Xueting WU ; Wei LIAO
Chongqing Medicine 2017;46(25):3529-3531,3535
Objective To find out the association between the indicators(pulse concussion lung function test index) of bronchial hyperresponsiveness (BHR) with fractional concentration of exhaled nitric oxide (FeNO) at different control periods among preschool asthmatic children.Methods Totally 74 asthmatic children in the pediatric department of our hospital from April 2015 to February 2017 were enrolled in this study,and 25 children undergoing the lung function and FeNO examination served as the controls,aged 3-5 years old.The cases were divided into three groups according to the standard in 2016 version of the Prevention and Treament Guide of Children Bronchial Asthma:asthma control group(n =26),asthma non-control;group(n =48) and control group (n=25).All data of FeNO,resistance of the respiratory system at 5 Hz(R5),resistance of the respiratory system at 5 Hz (R20),difference of R5 and R20(R5-20),reactance area (AX),reactance of the respiratory system at 5 Hz (X5) and resonant frequency of reactance (Fres) were collected.The FeNO,pulse concussion lung function test value and their association were analyzed.Results (1) The FeNO value of asthma the non-control group was significantly higher than that of the asthma control group and the control group,which were 34.00 ± 18.17,20.23± 11.07 and 28.00± 17.30 respectively.The AX detection value of the asthma non-control group was significantly higher than that of the control group(37.29 ± 15.27 vs.30.17 ± 9.50,P<0.05).(2)R20 had weak correlation with FeNO in the control group(P<0.05),while R20 had no correlation with FeNO in the non-control group and control group (P>0.05).FeNO had no obvious correlation with R5,R520,AX,X5 and Fres in the asthma non-control group,asthma control group and control group(P>0.05).Conclusion In preschool children with asthma,FeNO can reflect the airway eosinophilic inflammation control,and does not reflect the airway hyperresponsiveness.Thereforeit ie needed to combined with FeNO and IOS indicators (airway hyperresponsiveness index AX,etc.),which can more precisely judge whether asthma being controlled.
4.Karyotyping and analysis of 5α -reductase-2 gene mutation in 25 patients with hypospadias.
Shimin YUAN ; Changgao ZHONG ; Xiurong LI ; Juan DU ; Wen LI ; Guangxiu LU ; Yueqiu TAN
Chinese Journal of Medical Genetics 2017;34(2):159-163
OBJECTIVETo analyze the karyotypes and SRD5A2 gene mutations in 25 patients with sporadic or familial hypospadias.
METHODSThe patients included 10 adults and 15 children, whose chromosomes were analyzed by G-banded karyotyping, and the SRD5A2 genes were sequenced.
RESULTSTwo patients were found to have an abnormal karyotype, while eight have carried compound heterozygous mutations of the SRD5A2 gene, which included 5 genotypes formed by 6 types of mutations, i.e., p.G203S/p.R227Q, p.R227Q/p.R246Q, p.Q6X/p.Q71X, p.L20P/p.G203S, and p.Q71X/p.R227Q. Mutations of the SRD5A2 gene were present in 32% (8/25) of all patients, 35% (8/23) in those with a normal karyotype, and 44.4% (8/18) in those with proximal type hypospadia. Bioinformatic analysis, literature review and pedigree analysis confirmed that all such mutations are pathogenic.
CONCLUSIONChromosomal anomalies and mutations of the SRD5A2 gene are the main cause of hypospadias. Sequencing of the SRD5A2 gene may explain the etiology of nearly half of the patients with proximal type of hypospadas but a normal karyotype, which can facilitate genetic consulting.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase ; genetics ; metabolism ; Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; Female ; Humans ; Hypospadias ; enzymology ; genetics ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Membrane Proteins ; genetics ; metabolism ; Mutation ; Young Adult
5.Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome.
Xiaowen YANG ; Wen LI ; Juan DU ; Shimin YUAN ; Wenbin HE ; Qianjun ZHANG ; Changgao ZHONG ; Guangxiu LU ; Yueqiu TAN
Chinese Journal of Medical Genetics 2017;34(3):342-346
OBJECTIVETo screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation.
METHODSPeripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis.
RESULTSA heterozygous c.672_701dup30 mutation was found in the probands from the two familial cases, while three heterozygous mutations (two were novel), namely c.462_468del (p.Pro156Argfs*113), c.251T to A (p.Ile84Asn) and c.988_989insG (p.Ala330Glyfs*204) were detected in the three sporadic cases. Literature review and bioinformatic analysis indicated that all these mutations are pathogenic.
CONCLUSIONIdentification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.
Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Blepharophimosis ; diagnosis ; genetics ; China ; Female ; Forkhead Box Protein L2 ; Forkhead Transcription Factors ; genetics ; Genetic Association Studies ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Skin Abnormalities ; diagnosis ; genetics ; Urogenital Abnormalities ; diagnosis ; genetics ; Young Adult