Analysis of single nucleotide polymorphisms at IL-6-174 and TNF-β NcoI in Chinese Han children in Guangzhou, China / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the single nucleotide polymorphisms (SNPs) at interleukin 6 (IL-6)-174 and TNF-β NcoI in Chinese Han children in Guangzhou, China and to provide basic information for study on the association between IL-6-174 and TNF-β NcoI polymorphisms and systemic inflammatory response syndrome (SIRS).</p><p><b>METHODS</b>Allele-specific polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism were used to determine the SNPs at IL-6-174 and TNF-β NcoI in 481 children selected from the Han population in Guangzhou in 2012. Genotype analysis and comparison with other populations were made with reference to relevant literature.</p><p><b>RESULTS</b>Chinese Han children in Guangzhou had only GG genotype at IL-6-174, and the SNP at this locus was rare or not seen in the Han population in Guangzhou. At TNF-β NcoI, the frequencies of TNF-β 1*1, TNF-β 1*2, and TNF-β 2*2 genotypes were 24.7%, 49.7%, and 25.6%, respectively. The sample distribution was in accordance with Hardy-Weinberg equilibrium. The TNF-β 1 allele frequency was significantly higher in Guangzhou Han population than in European and American white population (P<0.05).</p><p><b>CONCLUSIONS</b>TNF-β NcoI SNP is prevalent in the Han population in Guangzhou, and the distribution of alleles is significantly different from that in the white population. The sample from an Hardy-Weinberg equilibrium population can be further used for study on the association between TNF-β NcoI SNP and SIRS in Chinese Han children in Guangzhou. IL-6-174 SNP is rare or not seen in the Han population in Guangzhou, so SNP at this locus cannot be selected for disease association analysis.</p>

HLA-DRB1 allelic polymorphism in children with juvenile idiopathic arthritis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the predisposing alleles of HLA-DRB1 genes in Han children with juvenile idiopathic arthritis (JIA) from Guangdong Province, China.</p><p><b>METHODS</b>Polymerase chain reaction-specific sequence primers (PCR-SSP) method was used to type HLA-DRB1 subregions in 94 Han children with JIA and 226 Han healthy controls.</p><p><b>RESULTS</b>The frequency of HLA-DRB1*08 allele in the JIA group was significantly higher than that in the control group (P=0.0014, OR=2.26), in contrast, the frequency of HLA-DRB1*12 allele was significantly lower than that in the control group (P=0.032, OR=0.55). It was found that in children with So-JIA subset (P=0.023, OR=2.25) and polyarthritis JIA subset (P=0.034, OR=2.81), the allele HLA-DRB1*08 was expressed most commonly. The allele HLA-DRB1*15 was expressed in a lower frequency in children with So-JIA subset (P=0.049, OR=0.413) and oligoarthritis subset (P=0.045, OR=0.16) compared with that in the control group.</p><p><b>CONCLUSIONS</b>HLA-DRB1*08 may be the susceptible allele of JIA, while HLA-DRB1*12 may be the protective allele of JIA in Han children from Guangdong Province. HLA-DRB1*08 is the susceptible allele of So-JIA and polyarthrits. HLA-DRB1*15 is the protective allele for systemic JIA and oligoarthritis.</p>

Gene polymorphism of vascular endothelial growth factor in children with Henoch-Schonlein purpura nephritis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the relationship of -634G/C gene polymorphism of vascular endothelial growth factor (VEGF) with Henoch-Schonlein purpura nephritis (HSPN) in children.</p><p><b>METHODS</b>One hundred ethnic Han children with HSP, including 50 children with concurrent nephritis (HSPN group) and 50 children without nephritis (HSP without nephritis group), were enrolled. Fifty age-, sex-and ethnics-matched healthy children were used as the control group. VEGF-634G/C genotypes were determined by PCR-RFLP. Plasma VEGF levels were measured using ELISA.</p><p><b>RESULTS</b>CC genotype distribution (32%) and C allele frequency (56%) in the HSPN group were significantly higher than those in the control group (10% and 35% respectively) and the HSP without nephritis group (10% and 33% respectively) (P<0.01). The incidence of nephritis in HSP patients with CC genotype increased significantly when compared with those with GG genotype (76% vs 31%; P<0.01). Plasma VEGF levels in patients with CC genotype (180.5+/- 40.7 pg/mL) were significantly higher than those in patients with CG (145.2+/- 48.3 pg/mL) and GG (101.5+/- 26.5 pg/mL) genotypes (P<0.05).</p><p><b>CONCLUSIONS</b>VEGF-634G/C gene polymorphism may be associated with the development of HSPN. C allele may a susceptible gene of HSPN.</p>

Glutathione S-transferase M1, T1 genotypes and the risk of mountain sickness / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To explore the relationship between genetic polymorphisms of glutathione S-transferase (GST) M1, T1 and susceptibility to mountain sickness.</p><p><b>METHODS</b>Forty-three soldiers with acute mountain sickness and 80 healthy soldiers matching with sex/age and training under the same condition were divided into case group and control group. A multiple polymerase chain reaction method was used to detect GSTM1 and GSTT1 genes in genomic DNA isolated from peripheral blood cells from both cases and controls.</p><p><b>RESULTS</b>The frequency of the GSTT1 positive genotype was significantly higher in cases (69.8%) than in controls (42.5%) (P = 0.004, OR = 3.12, 95% CI 1.42 approximately 6.86). The frequency of GSTM1 negative genotype was also higher in cases (72.1%) than in controls (52.5%) (P = 0.03, OR = 2.34, 95% CI 1.05 approximately 5.02). Persons with both GSTM1 and GSTT1 negative genotypes had 5-fold more risk than those with GSTT1 negative and GSTM1 positive genotypes in developing mountain sickness (OR = 5.04, 95% CI: 1.00 approximately 25.3).</p><p><b>CONCLUSION</b>Genetic polymorphisms of glutathione S-transferase M1, T1 may be the risk factors in the development of mountain sickness.</p>

Relationship between heat stress protein 70 gene polymorphisms and the risk of acute mountain sickness / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the relationship between heat stress proteins 70 (HSPs70) gene polymorphism and the risk of acute mountain sickness.</p><p><b>METHODS</b>Fifty-six soldiers with acute mountain sickness and 173 soldiers without that were chosen as cases and controls. HSP70-1, HSP70-2 genotypes were analyzed by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.</p><p><b>RESULTS</b>The HSP70-1 polymorphism was similar in two groups. The genotype frequency of HSP70-2 B/B in acute mountain sickness group (23.2%) was significantly higher than that in the control (6.9%, P < 0.05, OR = 4.02).</p><p><b>CONCLUSION</b>There is a significantly increased association of HSP70-2 B/B genotype with the risk of acute mountain sickness. Individuals with HSP70-2 B/B genotype may have weaker adaptive ability than those without this genotype under altitude stress. The results contribute to provide scientific bases for finding these individuals in specified occupational people, ensuring their health and enhancing work efficiency.</p>

Clinical characteristics and prognosis of 33 children with severe acute respiratory syndrome in Guangzhou area / 中华儿科杂志

<p><b>OBJECTIVE</b>Since the outbreak of a highly contagious new pneumonia, atypical pneumonia or severe acute respiratory syndrome (SARS) occurred in Guangzhou area, 33 children with this syndrome were treated in the authors' hospital. The present study aimed to understand clinical characteristics and prognosis of pediatric SARS patients in Guangzhou area.</p><p><b>METHODS</b>Clinical manifestations, laboratory and radiologic findings, therapeutic approaches and prognosis of the 33 children with SARS in Guangzhou area were analyzed.</p><p><b>RESULTS</b>Of the 33 cases, 17 were males and 16 were females. The age was between 3 months to 13 years, and 3 - 12 years old patients accounted for 82%. Five (15%) cases had an evident history of contacting SARS patient before the symptoms occurred. Another 5 (15%) cases had a history that contacts of these patients (family members or friends) developed fever and/or cough later. The most common symptoms in this cohort were fever (100%) and cough (91%). Most of the cases had high fever, higher than 39 degrees C. Near half of the cases had nonproductive cough. The initial blood cells count showed that total white blood cell (WBC) count was (2.5 - 9.7) x 10(9)/L. In 22 (67%) cases the WBC count was < 5.0 x 10(9)/L, and in 10 (30%) WBC was (5.0 - 7.0) x 10(9)/L, in 18 cases most of the WBC were lymphocyte count. Chest radiograph showed patchy infiltrates, in 15 cases the changes were unilateral, and in 18 were bilateral. The radiologic changes developed fast, in some cases the changes progressed from one side to both sides. The opacity was absorbed slowly, significant absorption took in average two weeks. Elevated ALT was found in 3 cases and elevated CK-MB in 2 cases. Treatment included isolation, good ventilation of the ward, bed rest, supportive regimens, low volume oxygen inhalation, use of Chinese traditional medicine, antibiotics to prevent bacterial infection, and anti-inflammation therapy. All the patients recovered and discharged from hospital after a mean period of 10.0 +/- 3.8 days.</p><p><b>CONCLUSION</b>SARS in children may have its own characteristics. The main clinical manifestations were high fever and cough while no severe toxic symptoms, nor respiratory failure was seen; few symptoms or signs suggesting involvement of systems other than respiratory system were seen. Chest radiograph showed uni- or bilateral asymmetric air-space infiltrates which could worsen quickly and were absorbed slowly. Though there were severe changes in the lung, the patients might not have corresponding symptoms or signs. The total white blood cell count in peripheral blood did not increase. All the patients studied had a favorable outcome after the combined treatment.</p>

The Report of macrophage activation syndrome in 9 children / 中华风湿病学杂志

Objective To analyze the clinical characteristics of macrophage activation syndrome (MAS). Methods Clinical data was analyzed in 9 children who had been diagnosed as MAS in our hospital from Jan, 2003 to Aug, 2006. Results Seven children were boys, 2 children were girls, aged 5 months to 12 years. Clinical manifestations included long-term fever, hemophagocytic cell in bone marrow, anemia, arthritis, enlargement of lymph nodes, enlargement of liver and spleen, liver dysfunction, abnormal fat metabolism. Two cases had acute respiratory, distress syndrome(ARDS), 2 cases were complicated with multi- pie organ failure(MOF), two patients died. Glucocorticoid combined with immunosuppressive therapy were effective, HP(Plasma Exchange)was applied in one severe case and was shown to he effective. Conclusion MAS is a serious complication of JIA, especially in systemic-onset juvenile idiopathic arthritis. It is very im- portant to recognize and treat MAS earlier.