Relationship of PTEN/PI3K/AKT Signaling Pathway Protein Expression with Apoptosis and Drug-resistance of Children's ALL Primary Cells Treated with Daunorubicin / 中国实验血液学杂志

OBJECTIVE@#To investigate the relationship of PTEN/PI3K/AKT signaling pathway protein expression with apoptosis and drug-resistance of children's ALL primary cells treated with daunorubicin (DNR).@*METHODS@#The bone marrow mononuclear cells in newly diagnosed and untreated B-ALL children were collected and cultured. After the treatment of primary-cultured cells with DNR of final concentration 0.5 mg/L for 24 h, the cell apoptosis rate was detected by using cell apoptosis assay kit; the samples were collected at the on test of culture and after drug treatment, then expression levels of PTEN, PI3K and AKT proteins were detected by Western blot, moreover the interindex correlation was analyzed.@*RESULTS@#After DNR treatment, the apoptosis rate in PTEN low expression group was lower than that in PTEN high expression group (P＜0.05), showing high positive correlation of the cell apoptosis rate with the expression of PTEN before DNR treatment; the cell apoptosis rate in PI3K and AKT low expression group was higher than that in PI3K and AKT high expression group (P＜0.01); however, the expression of PI3K and AKT proteins was down-regulated after treatment with DNR (P＜0.01).@*CONCLUSION@#The difference of PTEN expression is present in primary cells of B-ALL children, however the change of PTEN expression is not significant after DNR treatment, suggesting that the PTEN expression correlates with DNR-resistance. The DNR can induce the apoptosis of childrens B-ALL primary cells by down-regulating the expression of PI3K and AKT signaling pathway proteins.

Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical and genetic features of two families with late-onset glutaric aciduria type II caused by ETFDH mutations.</p><p><b>METHODS</b>Target gene sequence capture and next generation sequencing were used for sequencing of suspected patients and their family members. The patients' clinical features were retrospectively analyzed and literature review was performed.</p><p><b>RESULTS</b>The probands of the two families had a clinical onset at the ages of 10 years and 5.5 years respectively, with the clinical manifestations of muscle weakness and muscle pain. Laboratory examinations revealed significant increases in the serum levels of creatine kinase, creatine kinase-MB, and lactate dehydrogenase. Tandem mass spectrometry showed increases in various types of acylcarnitines. The analysis of urine organic acids showed an increase in glutaric acid. Electromyography showed myogenic damage in both patients. Gene detection showed two novel mutations in the ETFDH gene (c.1331T>C from the mother and c.824C>T from the father) in patient 1, and the patient's younger brother carried the c.1331T>C mutation but had a normal phenotype. In patient 2, there was a novel mutation (c.177insT from the father) and a known mutation (c.1474T>C from the mother) in the ETFDH gene. Several family members carried such mutations. Both patients were diagnosed with glutaric aciduria type II. Their symptoms were improved after high-dose vitamin B2 treatment.</p><p><b>CONCLUSIONS</b>For patients with unexplained muscle weakness and pain, serum creatine kinase, acylcarnitines, and urinary organic acids should be measured, and the possibility of glutaric aciduria type II should be considered. Genetic detection is helpful to make a confirmed diagnosis.</p>

Research advances in association between pediatric obesity and bronchial asthma / 中国当代儿科杂志

This review article introduces the research advances in the pathophysiological mechanism of obesity in inducing pediatric bronchial asthma, including the role of leptin in obesity and asthma, the association of plasminogen activator inhibitor-1 with obesity and asthma, the association of adiponectin and interleukins with obesity and asthma, and the influence of neurotransmitter on asthma. In particular, this article introduces the latest research on the inhibition of allergic asthma through targeting at the nociceptor of dorsal root ganglion and blocking the signaling pathway of the nociceptor.

Association between Helicobacter pylori infection and newly diagnosed childhood immune thrombocytopenia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the role of Helicobacter pylori (H. pylori) infection in newly diagnosed childhood immune thrombocytopenia (ITP).</p><p><b>METHODS</b>A total of 495 children with newly diagnosed ITP who were hospitalized for the first time between January 2011 and December 2013 were included as the case group. A total of 123 children with common respiratory tract infection (not ITP or other diseases of blood system) were randomly selected as the control group. All patients were divided into four groups by age: <1 year group, 1-3 years group, 3-7 years group, and 7-14 years group. The incidence of H. pylori infection in all age groups and the clinical outcomes of ITP children with or without H. pylori infection were retrospectively analyzed.</p><p><b>RESULTS</b>The incidence rate of H. pylori infection in the case group increased with increasing age. There was no significant difference in the incidence rate of H. pylori infection between the case and the control groups among subjects of the same age (P>0.05). All the ITP patients were not given anti-H. pylori treatment and only received the treatment (glucocorticoid and/or immunoglobulin) for ITP, and their remission rate declined with increasing age. There was no significant difference in the remission rate between the ITP children with H. pylori infection and those without H. pylori infection in the same age group (P>0.05).</p><p><b>CONCLUSIONS</b>H. pylori infection may not be a major cause of ITP in children, and the clinical outcomes of children with acute ITP are not affected by receiving anti-H. pylori treatment or not.</p>

Association between ZNF365 gene polymorphisms and bronchial asthma in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the association of single nucleotide polymorphisms (SNP) (rs2393903 and rs10995251) in ZNF365 gene with bronchial asthma and its clinical characteristics in Han Chinese children in Hubei, China.</p><p><b>METHODS</b>A total of 221 children with bronchial asthma and 243 normal children, all of whom were from Hubei, were recruited to carry out a case-control study. The genotype and allele frequencies of two SNPs in ZNF365 gene were determined using the polymerase chain reaction-restriction fragment length polymorphism technique.</p><p><b>RESULTS</b>There were no significant differences in the distribution of three genotypes (GG, GA, AA) and allele frequency in SNP rs2393903 between the asthma and control groups (P>0.05). However, there were significant differences in the distribution of three genotypes (CC, CT, TT) and allele frequency in SNP rs10995251 between the asthma and control groups (P<0.05); C allele was a risk factor (OR=1.380). The asthmatic children with CC genotype of SNP rs10995251 had a significantly higher serum level of total immunoglobulin E (IgE) than those with TT genotype (P<0.05).</p><p><b>CONCLUSIONS</b>The SNP rs10995251 in ZNF365 gene is associated with the susceptibility to bronchial asthma in children in Hubei, China, and the SNP may affect the level of serum IgE in these children.</p>

Association between gene polymorphism of CD40 gene and coronary artery lesion in Kawasaki disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the association between two single nucleotide polymorphisms (rs4810485 and rs1535045 in CD40 gene) and Kawasaki disease (KD) in Han Chinese children.</p><p><b>METHODS</b>A case-control study was performed on 184 children with KD and 206 normal controls. The polymorphisms of two SNPs in CD40 gene were detected using PCR-RFLP.</p><p><b>RESULTS</b>There were no significant differences in the genotype distribution and allele frequency of SNP rs4810485 in CD40 gene between the KD and normal groups (P>0.05). The genotype distribution of SNP rs1535045 in CD40 gene in the KD group was significantly different from the control group (P<0.05). T allele of SNP rs1535045 was shown as a risk factor for development of KD (OR=1.592, 95%CI: 1.182-2.144, P=0.004). There were no association between the polymorphisms of the two SNPs and coronary artery lesions (P>0.05).</p><p><b>CONCLUSIONS</b>SNP rs1535045 may be associated with the development of KD in Han Chinese children, while SNP rs4810485 may not.</p>