CJCP
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2015 Vol.  17 No.  11
Published: 2015-11-15
CLINICAL RESEARCH
EXPERIMENTAL RESEARCH
CLINICAL EXPERIENCE
CLINICAL RESEARCH
1147 LIU Dan, ZHAN Jian-Ying, SHAO Jie
Environmental risk factors for autism spectrum disorders in children
Objective To investigate the environmental risk factors for autism spectrum disorders (ASD) in children. Methods In this case-control study, 81 boys with ASD, 74 boys with global developmental delay (GDD), and 163 healthy boys were enrolled. A self-designed nurturing environment questionnaire was used to record general demographic data, family social-economic status, parents' living habits and environmental exposure, maternal health status during pregnancy, birth situations, and rearing environment after birth. Multivariate logistic regression was used to identify environmental risk factors for ASD and GDD. Results Multivariate logistic regression analysis showed that six environmental risk factors such as maternal occupational toxicant exposure, diseases during pregnancy and a history of passive smoking, children's birth places, the frequency of outdoor activities in the second year after birth, and the opportunities to communicate with other age-matched children were significantly associated with the incidence of ASD (OR=20.67, 3.559, 2.422, 2.646, 23.820, and 5.081, respectively; P<0.05). Among the above six risk factors, passive smoking during pregnancy, the opportunities to communicate with their peers, and the frequency of outdoor activities in the second year after birth were also significantly associated with the incidence of GDD (P<0.05). Conclusions Maternal occupational toxicant exposure, diseases during pregnancy, and low level of children's birth places may be the specific risk factors associated with ASD, and passive smoking during pregnancy, fewer opportunities to communicate with their peers, and fewer outdoor activities in the second year after birth are non-specific risk factors for ASD, indicating that the development of ASD may be influenced by both genes and environmental factors.
2015 Vol. 17 (11): 1147-1153 [Abstract] ( 5678 ) [HTML 1KB] [PDF 1181KB] ( 1529 )
1154 ZOU Yao, LIU Xiao-Ming, ZHANG Li, CHEN Yu-Mei, GUO Ye, CHEN Xiao-Juan, YANG Wen-Yu, WANG Shu-Chun, RUAN Min, LIU Tian-Feng, ZHANG Jia-Yuan, LIU Fang, QI Ben-Quan, ZHU Xiao-Fan
Significance of IKZF1 gene copy number abnormalities in BCR/ABL-negative B-lineage acute lymphoblastic leukemia in children
Objective To identify IKZF1 gene copy number abnormalities in BCR/ABL-negative B-lineage acute lymphoblastic leukemia (B-ALL) in children, and to investigate the association between such abnormalities and prognosis. Methods Multiplex ligation-dependent probe amplification (MLPA) was applied to detect IKZF1 gene copy number abnormalities in 180 children diagnosed with BCR/ABL-negative B-ALL. These children were classified into IKZF1 deletion group and IKZF1 normal group according to the presence or absence of IKZF1 gene deletion. The association between IKZF1 copy number abnormalities and prognosis of children with BCR/ABL-negative B-ALL was analyzed retrospectively. Results Among 180 children, 27 (15.0%) had IKZF1 deletion; among the 27 children, 4 had complete deletions of 8 exons of IKZF1 gene, 17 had deletion of exon 1, 3 had deletions of exons 4-7, and 3 children had deletions of exons 2-7. Compared with those in the IKZF1 normal group, children in the IKZF1 deletion group had higher white blood cell (WBC) count and percentage of individuals with high risk of minimal residual disease at the first visit. IKZF1 deletions often occurred in BCR/ABL-negative children with no special fusion gene abnormalities. They were frequently accompanied by abnormalities in chromosomes 11, 8, 5, 7, and 21. The analysis with Kaplan-Meier method showed that disease-free survival (DFS) in the IKZF1 deletion group was significantly lower than that in the IKZF1 normal group (0.740±0.096 vs 0.905±0.034; P=0.002). Cox analysis showed that after exclusion of sex, age, initial WBC count, cerebrospinal fluid state at the first visit, prednisone response, and chromosome karyotype, IKZF1 deletion still affected the children's DFS (P<0.05). Conclusions Some children with BCR/ABL-negative B-ALL have IKZF1 deletion, and IKZF1 deletion is an independent risk factor for DFS in children with BCR/ABL-negative B-ALL.
2015 Vol. 17 (11): 1154-1159 [Abstract] ( 4170 ) [HTML 1KB] [PDF 1197KB] ( 1199 )
1160 LU Kai-Shan, GUO Xiao-Ling, LV Jun-Feng, HUANG Shao-Li, YANG Chun-Hui, ZOU Zhi-Hui, CHEN Zhi-Jun, LAI Chun-Hua, YANG Bing-Yan
Value of amino-terminal pro-brain natriuretic peptide as a predictive marker of symptomatic patent ductus arteriosus in preterm infants
Objective To study the value of amino-terminal pro-brain natriuretic peptide (NT-proBNP) in predicting symptomatic patent ductus arteriosus (sPDA) in preterm infants. Methods Preterm infants born at a gestational age (GA) of ≤32 weeks and diagnosed with patent ductus arteriosus (PDA) by echocardiography within 48 hours after birth between June 2014 and April 2015 were selected as subjects. Their clinical manifestations were observed, and serum NT-proBNP levels were measured and echocardiography was performed at 3 and 5 days after birth. The infants were divided into sPDA group and asymptomatic PDA (asPDA) group based on their clinical manifestations and the results of echocardiography. The correlations between serum NT-proBNP level and echocardiographic indices were analyzed. Serum NT-proBNP levels were compared between the two groups. The receiver operator characteristic (ROC) curve was applied to determine the sensitivity and specificity of serum NT-proBNP in the prediction of sPDA. Results A total of 69 preterm infants were enrolled in this study, with 13 infants in the sPDA group and 56 infants in the asPDA group. Serum NT-proBNP level was positively correlated with the diameter of the arterial duct (r=0.856; P<0.05)and the ratio of left atrial diameter to aortic root diameter (LA/AO) (r=0.713; P<0.05). At 3 and 5 days after birth, the serum NT-proBNP levels in the sPDA group were significantly higher than those in the asPDA group (P<0.05). The area under the ROC curve (AUC) for the prediction of sPDA by NT-proBNP levels at 3 days after birth was 0.949 (95% CI: 0.892-1.000; P<0.001), with a cut-off value of 27 035 pg/mL (sensitivity: 92.3%; specificity: 94.6%); the AUC for the prediction of sPDA by NT-proBNP levels at 5 days after birth was 0.924 (95% CI: 0.848-1.000; P<0.001), with a cut-off value of 6 411 pg/mL (sensitivity: 92.3%; specificity: 92.9%). Conclusions NT-proBNP may be a quantitative index for shunt volume. The measurement of serum NT-proBNP levels on 3 and 5 days after birth may be useful to predict sPDA in preterm infants.
2015 Vol. 17 (11): 1160-1164 [Abstract] ( 3792 ) [HTML 1KB] [PDF 1131KB] ( 945 )
1165 HUANG Xiao-Yun, LIU Hui-Long, MAI Hui-Fen, LEI Min, LI You-Cong, MA Feng-Lan
Study on height-weight indices in newborns of different gestational ages
Objective To establish height-weight indices in newborns of different gestational ages and to provide reference data for evaluation of intrauterine fetal growth. Methods The weight, height, crown-rump length, head circumference, and chest circumference of 8 357 newborns were measured in Maternal and Child Health Care Hospital of Bao'an District of shenzhen between 2005 and 2006, with the method of fact-finding investigation with cross-sectional cluster sampling, to establish the height-weight indices in newborns of different gestational ages. Results Five gender-specific height-weight indices (Quetelet Index, QI; Kaup Index, KI; Rohrer Index, RI; Livi Index, LI; Polock Index, PI) in newborns of different gestational ages (28-44 weeks of gestation) in three different groups (boys+girls, boys, and girls) were established in Shenzhen, China, and were expressed as mean gestational weeks±SD. The five indices above all increased with increasing gestational age, and the highest values appeared at 41-43 gestational weeks, suggesting that body density and enrichment degree increased constantly with increasing gestational age. Three indices (QI, KI and PI) were higher in boys than in girls (P<0.05). Conclusions With the increasing gestational age, the body density and enrichment degree of newborns increase, and the enrichment degree in boys is better than that in girls.
2015 Vol. 17 (11): 1165-1170 [Abstract] ( 3884 ) [HTML 1KB] [PDF 1311KB] ( 1042 )
1171 YANG Xiao-Yan, ZHAO Jing, SHI Jing, WU Jin-Lin, CHEN Da-Peng, TANG Jun, XIONG Ying, MU De-Zhi
Investigation of pharmacokinetics and pharmacodynamics of different doses of aminophylline in very low birth weight infants Hot!

Objective To study the pharmacokinetic and pharmacodynamic features of different doses of aminophylline in very low birth weight (VLBW) infants with different postmenstrual ages, weights, and ages (in days). Methods A total of 40 VLBW infants with apnea were enrolled. After an intravenous loading dose of 5 mg/kg aminophylline, they were randomized into two groups with different maintenance doses of aminophylline (1 mg/kg and 2 mg/kg, once every 8 hours). Blood concentrations of aminophylline and liver and renal functions were monitored at 8 hours, 3 days, and 7 days after the loading dose. Attacks of apnea were documented. Pharmacokinetic data of aminophylline were compared between the two groups. Results The steady-state plasma concentration of aminophylline and plasma clearance in the 2 mg/kg group were significantly higher than those in the 1 mg/kg group (P<0.05). However, the elimination half life was shorter in the 2 mg/kg group (P<0.05). Days of apnea attacks within 7 days after birth in the 2 mg/kg group were significantly fewer than in the 1 mg/kg group (P<0.05). Aminophylline plasma clearance was positively correlated with age (in days) after birth and postmenstrual age in both groups. Conclusions In VLBW infants, pharmacokinetics and pharmacodynamics are different when different maintenance doses of aminophylline are given. The maintenance dose of 2 mg/kg is associated with a better effect in the treatment of apnea. Postmenstrual age and age (in days) should be considered during the adjustment of dose, and routine blood concentration monitoring should be performed.
2015 Vol. 17 (11): 1171-1175 [Abstract] ( 4078 ) [HTML 1KB] [PDF 1254KB] ( 1272 )
1176 HU Jing, DU Peng-Fei, BEI Dan-Dan
Diagnostic value of interleukin 6 for neonatal sepsis: a Meta analysis
Objective To evaluate the diagnostic value of interleukin 6 for neonatal sepsis. Methods The databases of CNKI, VIP, Wangfang, Pubmed, Embase, Web of Science, Cochrane Library were searched (by September 2014) to identify relevantly published studies about estimating the diagnostic value of interleukin 6 for neonatal sepsis. QUADAS tools were used for quality evaluation of the studies. A Meta analysis was performed by employing Meta Disc 1.4 and Stata11.0 software. Heterogeneity of the included articles was tested to select proper efficacy model for calculating pooled weighted sensitivity, specificity and 95%CI. Summary receiver operating characteristic (SROC) curve was made and the area under the curve and Q* index were calculated. Results A total of 33 studies including 3 135 neonates were enrolled. The sensitivity and specificity of interleukin 6 for the diagnosis of neonatal sepsis were 0.79 (95%CI: 0.76-0.81) and 0.83 (95%CI: 0.81-0.85) respectively. The area under SROC curve of interleukin 6 for the diagnosis of neonatal sepsis was 0.89 and Q* index was 0.83. The post-test probability of diagnosing neonatal sepsis indicated by negative interleukin 6 was 5%, while that of positive interleukin 6 was 60%. Conclusions Interleukin 6 measurement is useful for the diagnosis of neonatal sepsis with a high sensitivity and specificity.
2015 Vol. 17 (11): 1176-1182 [Abstract] ( 4111 ) [HTML 1KB] [PDF 1867KB] ( 1277 )
1183 PENG Hong-Yan, ZHU Yi-Min, ZHANG Xin-Ping, KANG Xia-Yan
Value of pancreatic stone protein/regenerating protein in severity evaluation and prognosis prediction for children with sepsis
Objective To evaluate the value of pancreatic stone protein/regenerating protein (PSP/reg) in severity evaluation and prognosis prediction for children with sepsis. Methods In this prospective case-control study, 159 children with sepsis (106 cases in the sepsis group; 53 cases in the severe sepsis group, including 12 cases of septic shock) and 20 children without sepsis (control group) were enrolled. ELISA was applied to measure plasma PSP/reg levels on days 1, 3, and 7 of admission to the PICU. The Spearman rank correlation test was applied to assess the correlations between plasma PSP/reg level and serum procalcitonin (PCT), CRP, WBC count, and pediatric critical illness score (PCIS). The area under the receiver operating characteristic curve (AUC) was used to assess the value of each index in determining severity and predicting prognosis for children with sepsis. Results On day 1 of admission to the PICU, plasma PSP/reg levels in the sepsis and severe sepsis groups were significantly higher than in the control group (P<0.05), and the severe sepsis group had a significantly higher plasma PSP/reg level than the sepsis group (P<0.05). On day 1 of admission to the PICU, the survival group (n=132) had a significantly lower plasma PSP/reg level than the non-survival group (n=27) (P<0.05). On day 1 of admission to the PICU, plasma PSP/reg level in children with sepsis was positively correlated with WBC count and serum PCT level (rs=0.212 and 0.548, respectively; both P<0.05), and negatively correlated with PCIS score (rs=-0.373; P<0.05). The AUCs of plasma PSP/reg level and serum PCT for determination of severe sepsis, septic shock, and death were higher than 0.7 (P<0.05). Conclusions PSP/reg is closely related to infection, and has a certain clinical value in risk stratification of sepsis and prognosis evaluation.
2015 Vol. 17 (11): 1183-1188 [Abstract] ( 3857 ) [HTML 1KB] [PDF 1484KB] ( 959 )
1189 WANG Zhen, LI Ya-Chun, CHEN Lu
Early identification of refractory Mycoplasma pneumoniae pneumonia in children
Objective To investigate the clinical indicators for early identification of refractory Mycoplasma pneumoniae pneumonia (RMPP) in children. Methods The clinical data of 142 children with Mycoplasma pneumoniae pneumonia (MPP) between January 2014 and June 2015 were retrospectively studied. Among the 142 children, there were 32 cases of RMPP and 110 cases of non-refractory MPP. The clinical data were compared between the RMPP and non-refractory MPP groups. Results The percentage of school-age children in the RMPP group was higher than in the non-refractory MPP group (P<0.05). The mean onset age in the RMPP group was older than the non-refractory MPP group (P<0.05). Steroid was used in 93.8% of RMPP children compared with 7.3% of non-refractory MPP children (P<0.001). Consolidation of lung on chest X-Ray was shown in 87.5% of RMPP children compared with 42.7% of non-refractory MPP children (P<0.001). The incidence of pleural effusion in the RMPP group was higher than in the non-refractory MPP group (P<0.001). The RMPP group had higher percentages of individuals with CRP>40 mg/L and ESR>30 mm/h+LDH>300 IU/L than the non-refractory MPP group (P<0.05). Conclusions RMPP is common in school-age children. Consolidation of lung on chest X-Ray, pleural effusion and increased levels of CRP and ESR+LDH may be helpful to early identification of RMPP in children.
2015 Vol. 17 (11): 1189-1192 [Abstract] ( 5261 ) [HTML 1KB] [PDF 1201KB] ( 1457 )
1193 PENG Yi, SHU Chang, FU Zhou, LI Qu-Bei, LIU Zheng, YAN Li
Pathogen detection of 1 613 cases of hospitalized children with community acquired pneumonia
Objective To investigate the distribution of pathogens of children with community acquired pneumonia (CAP) from the Chongqing area. Methods Nasopharyngeal specimens and blood specimens of 1 613 children with CAP were collected between January 2014 and December 2014 for bacterial culture and detection of 7 respiratory viruses and antibodies against Mycoplasma pneumoniae (MP). Results The overall positive rate of bacteria was 50.22% (810 cases). Hemophilus parainfluenzae (40.8%), Streptococcus pneumonia (29.7%) and Moraxelle catarrhalis (7.3%) were the predominant ones. Among the viruses, the top detected virus was respiratory syncytial virus (RSV, 58.3%), followed by parainfluenza virus type3 (17.4%) and adenovirus (14.3%). A total of 481 cases (29.82%) were MP-positive. The co-infection rate was 32.18% (519 cases), and the mixed infections of bacteria and viruses were common (47.4%). Conclusions RSV and Hemophilus parainfluenzae are the major pathogens of CAP in children from the Chongqing area. MP is also an important pathogen. The co-infection of bacteria and viruses is prevalent.
2015 Vol. 17 (11): 1193-1199 [Abstract] ( 5127 ) [HTML 1KB] [PDF 1455KB] ( 1140 )
1200 ZOU Li-Ping, WANG Wei, ZHANG Yan-Li, ZHANG Yan, WANG Li
Expression and significance of adhesion molecules CD62P and CD44 in peripheral blood of infants with bronchiolitis
Objective To explore the expression and significance of the adhesion molecules CD62P and CD44 in the peripheral blood of infants with bronchiolitis. Methods Thirty-three infants with bronchiolitis in the acute phase and 19 infants with bronchiolitis in the recovery phase, who were hospitalized between November 2014 and May 2015, were enrolled. Thirty infants with bronchopneumonia and 26 infants without infection were enrolled as the bronchopneumonia group and the control group, respectively. The CD62P expression in the peripheral blood of each group was measured by flow cytometry, and the CD44 level in serum was determined using ELISA. Results The levels of the adhesion molecules CD62P and CD44 in the bronchiolitis group in the acute phase were significantly higher than those in the bronchiolitis group in the recovery phase, the bronchopneumonia group, and the control group (P<0.05). The levels of the adhesion molecules CD62P and CD44 in the bronchiolitis group in the recovery phase were also significantly higher than those in the control group (P<0.05). In the bronchiolitis group in the acute phase, there was a positive correlation between CD62P expression and serum CD44 level (r=0.91; P<0.05). Conclusions The adhesion molecules CD62P and CD44 play an important role in the pathogenesis of bronchiolitis, and their levels can reflect the severity of inflammatory response in infants with bronchiolitis.
2015 Vol. 17 (11): 1200-1203 [Abstract] ( 3673 ) [HTML 1KB] [PDF 1429KB] ( 729 )
1204 SUN Yue-Lin, FU Yue-Qiang, MA Hong-Tu, LIU Cheng-Jun, XU Feng
Pathogens and risk factors for ventilator-associated pneumonia in children with congenial heart disease after surgery
Objective To investigate the distribution and drug sensitivity of pathogens and risk factors for ventilator-associated pneumonia (VAP) in children with congenial heart disease (CAD) after surgery. Methods According to the occurrence of VAP, 312 children with CAD who received mechanical ventilation after surgery for 48 hours or longer between January 2012 and December 2014 were classified into VAP (n=53) and non-VAP groups (n=259). Sputum samples were collected and cultured for pathogens in children with VAP. The drug sensitivity of pathogens was analyzed. The risk factors for postoperative VAP were identified by multiple logistic regression analysis. Results The sputum cultures were positive in 51 out of 53 children with VAP, and a total of 63 positive strains were cultured, including 49 strains of Gram-negative bacteria (78%), 9 strains of Gram-positive bacteria (14%) and 5 strains of funqi (8%). The drug sensitivity test showed that Gram-negative bacteria were resistant to amoxicillin, piperacillin, cefotaxime and ceftazidime, with a resistance rate of above 74%, and demonstrated a sensitivity to amikacin, polymyxin and meropenem (resistance rate of 19%-32%). Single factor analysis showed albumin levels, preoperative use of antibiotics, duration of mechanical ventilation, times of tracheal intubation, duration of anesthesia agent use, duration of acrdiopulmonary bypass, duration of aortic occlusion and use of histamin2-receptor blockade were significantly different between the VAP and non-VAP groups (P<0.05). The multiple logistic regression showed albumin levels (<35 g/L), duration of mechanical ventilation (≥7 d), times of tracheal intubation (≥3), duration of acrdiopulmonary bypass (≥100 minutes) and duation of aortic occlusion (≥60 minutes) were independent risk factors for VAP in children with CAD after surgery. Conclusions Gram-nagative bacteria are main pathogens for VAP in children with CAD after surgery. The antibiotics should be used based on the distribution of pathogens and drug sensitivity test results of pathogens. The effective measures for prevention of VAP should be taken according to the related risk factors for VAP to reduce the morbidity of VAP in children with CAD after surgery.
2015 Vol. 17 (11): 1204-1209 [Abstract] ( 4141 ) [HTML 1KB] [PDF 1417KB] ( 935 )
1210 MIAO Qing, WANG Jing, XU Wei, GUAN Hui, WANG Qun, LIU Xiao-Ying, HUANG Hui-Jie, REN Yi-Xin, WANG Yan, LIU Yong-Ge, LI Zhen, XIANG Li
A comparision of the effects of subcutaneous and sublingual immunotherapy on immunological responses in children with asthma
Objective To compare the difference in the effects of subcutaneous immunotherapy (SCIT) and sublingual immunotherapy (SLIT) on immunological responses in children with asthma. Methods A total of 86 children with asthma caused by dust mites were enrolled and divided into a SLIT group (n=29), a SCIT group (n=13), a group receiving complete SCIT course (complete SCIT group; n=14), and a group receiving conventional medication (control group, n=30). Peripheral blood mononuclear cells were isolated and stimulated with house dust mite extract for 48 hours in vitro, and the percentage of regulatory T cells (Treg%) in CD4+ T cells was measured by flow cytometry. Analysis of variance with repeated measures was applied to compare the changes in humoral immunological indices and therapeutic effects in the SCIT and SLIT groups before treatment and after 6 and 12 months of treatment. Results Before antigenic stimulation, Treg% in CD4+ T cells in the SCIT group was significantly higher than that in the SLIT and control groups; after antigenic stimulation was given, Treg% in the four groups decreased significantly. After 6 and 12 months of immunotherapy, the SCIT group had significant changes in serum sIgE and sIgG4 levels, while the SLIT group only showed a significant change in serum sIgE level. Conclusions Temporal difference exists in different immunotherapies to cause immunological responses in children with asthma, and immunological responses induced by SCIT may occur earlier.
2015 Vol. 17 (11): 1210-1216 [Abstract] ( 4103 ) [HTML 1KB] [PDF 1528KB] ( 898 )
1217 WANG Xian, ZHU Tian-Jiao, ZHOU Xiong-Fei, WAN Zhi-Ting
Association of TIAM1 gene polymorphisms with Kawasaki disease and its clinical characteristics
Objective To investigate the association of single nucleotide polymorphisms (SNP) rs22833188 and rs2833195 in TIAM1 gene with the susceptibility to Kawasaki disease (KD) and its clinical characteristic in children. Methods A case-control study was performed in this study. One hundred and eighty-eight children with KD and 197 normal children served as controls were enrolled. The genotypes of two SNPs rs22833188 and rs2833195 in TIAM1 gene were detected using PCR-RFLP. Results There were no significant differences in the genotype (AA, AG and GG) and allele frequencies of SNP rs2833188 between the KD and control groups. Significant differences in the genotype (CC, GC and GG) frequency of SNP rs2833195 were noted between the KD and control groups (P=0.017). The frequency of C allele in the KD group was higher than in the control group (P=0.015). The polymorphism of SNP rs2833188 was associated with the occurrence of rash (P=0.011), and the polymorphism of SNP rs2833195 was associated with the occurrence of conjunctival hyperemia (P=0.021). Conclusions The polymorphism of rs2833195 in TIAM1 gene is associated with the susceptibility to KD. The polymorphisms rs2833188 and rs2833195 in TIAM1 gene may be associated with some clinical characteristics in children with KD.
2015 Vol. 17 (11): 1217-1220 [Abstract] ( 3805 ) [HTML 1KB] [PDF 1321KB] ( 759 )
1221 HE Jiang, WANG Hui-Zhen, XU Fa-Liang, YANG Xi, WANG Rui, ZOU Hong-Yun, YU Wu-Zhong
Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China
Objective To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) from the Qinghai area of China, in order to provide basic information for genetic counseling and prenatal diagnosis. Methods Mutations of the PAH gene were detected in the promoter and exons 1-13 and their flanking intronic sequences of PAH gene by PCR and DNA sequencing in 49 children with PKU and their parents from the Qinghai area of China. Results A total of 30 different mutations were detected in 80 out of 98 mutant alleles (82%), including 19 missense (63%), 5 nonsense (17%), 3 splice-site (10%) and 3 deletions (10%). Most mutations were detected in exons 3, 6, 7, 11 and intron 4 of PAH gene. The most frequent mutations were p.R243Q (19%), IVS4-1G>A (9%), p.Y356X (7%) and p.EX6-96A>G(5%). Two novel mutations p.N93fsX5 (c.279-282delCATC) and p.G171E (c.512G>A) were found. p.H64fsX9(c.190delC) was documented for the second time in Chinese PAH gene. The mutation spectrum of the gene PAH in the Qinghai population was similar to that in other populations in North China while significantly different from that in the populations from some provinces in southern China, Japan and Europe. Conclusions The mutations of PAH gene in the Qinghai area of China demonstrate a unique diversity, complexity and specificity.
2015 Vol. 17 (11): 1221-1227 [Abstract] ( 4121 ) [HTML 1KB] [PDF 2140KB] ( 1318 )
1228 ZHANG Lei, XU Xiao-Heng, WANG Ji, ZHANG Si-Jin
Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II
The clinical data of 2 infants with infantile glycogen storage disease type II (GSD II) from one pedigree were collected. The method of dried blood spots (DBS) was applied to collect peripheral blood samples, and the activity of acid alpha-D-glucosidase (GAA) in leukocytes was measured. The coding region of GAA gene in this pedigree was amplified by polymerase chain reaction and then direct sequencing was used to analyze mutations in GAA gene. The two infants were twins, who were admitted to the hospital due to feeding difficulties, generalized muscle weakness and hypotonia, cardiomegaly, and cardiac insufficiency when they were 10 months old. The GAA activity in leukocytes in the two infants was significantly lower than in normal controls. Gene sequencing revealed 2 compound heterozygous mutations in the two infants, i.e., G1942A and G2214A, respectively. G1942A had been proved pathogenic, and the latter one, G2214A, was a nonsense mutation, resulting in the change of tryptophan, the 738th amino acid of GAA, into a stop codon. The two infants were diagnosed with GSD II by gene detection and no enzyme replacement therapy could be provided to them. Follow-up visits showed that the two infants died at home at the age of 15 months and 17 months, respectively. GSD II is caused by deficiency of GAA activity resulting from mutation of GAA gene. The detection of GAA activity in peripheral blood by DBS and GAA gene detection are effective and feasible methods for diagnosis of GSD II.
2015 Vol. 17 (11): 1228-1231 [Abstract] ( 4191 ) [HTML 1KB] [PDF 1344KB] ( 1086 )
1232 PEI Liang, YANG Ni, YANG Yu-Hang, GUO Zhang-Yan, XU Wei, LIU Chun-Feng
Clinical features and prognostic factors in children with fulminant myocarditis
Objective To investigate the clinical features and prognostic factors in children with fulminant myocarditis. Methods The clinical data of 24 children with fulminant myocarditis were retrospectively analyzed. According to the prognosis, these children were classified into two groups: survival (n=12) and death (n=12). The risk factors influencing prognosis in children with fulminant myocarditis were identified by logistic regression analysis. Results Among the 24 cases of fulminant myocarditis, gastrointestinal symptoms were found as initial symptoms in 14 cases, neurological symptoms in 12 cases, respiratory symptoms in 1 case, and cardiac symptoms in 2 cases. On admission, serum levels of creatine kinase MB, troponin I, and brain natriuretic peptide (BNP) were all increased. Besides, left ventricular ejection fraction (LVEF) decreased in 22 cases (92%), cardiothoracic ratio increased in 10 cases, third-degree atrioventricular block was observed in 8 cases, ST-segment changes were found in 11 cases and ventricular tachycardia was identified in 2 cases. LVEF in the death group was lower than in the survival group (P<0.05), while the peak level of serum BNP during hospitalization in the death group was higher than in the survival group (P<0.05). The multivariate logistic regression analysis revealed that LVEF was the risk factor influencing prognosis (OR=7.418; P<0.05). Conclusions Fulminant myocarditis has no specific clinical features in children. A decreased LVEF is a risk factor for poor prognosis in children with fulminant myocarditis.
2015 Vol. 17 (11): 1232-1236 [Abstract] ( 4420 ) [HTML 1KB] [PDF 1404KB] ( 1226 )
1237 CHEN Jin-Biao, ZHAO Li, ZHANG Jing, ZHOU Wei-Qiang, JIN Min
Disease spectrum and causes of death in hospitalized children in an upper first-class hospital in Hunan Province, China, from 2010 to 2014
Objective To study the disease spectrum and causes of death in hospitalized children in an upper first-class hospital in Hunan Province, China. Methods The medical records of hospitalized children between 2010 and 2014 in this hospital were collected and analyzed retrospectively. Results From 2010 to 2014, the number of hospitalized children increased from 7 303 in 2010 to 10 902 in 2014, and the case fatality rate declined from 0.33% to 0.20% (P<0.05). The case fatality rate was highest (0.41%) in infants and lowest (0.11%) in newborns. As for the disease spectrum for these hospitalized children, in 2010, the top three diseases were leukemia, congenital heart disease, and pneumonia; in 2011, the top three diseases were tumor chemotherapy, congenital heart disease, and pneumonia; since 2012, tumor chemotherapy, epilepsy, and pneumonia had remained the top three diseases. The top three causes of death in hospitalized children were congenital malformation (39%, 39/99), tumor (13%, 13/99), and infectious diseases/parasitic diseases (8%, 8/99). Conclusions The number of hospitalized children is increasing, while the case fatality rate tends to decrease in this hospital. Tumor, epilepsy, pneumonia, and congenital heart disease are major diseases in hospitalized children, and congenital malformation is the primary cause of death.
2015 Vol. 17 (11): 1237-1241 [Abstract] ( 3392 ) [HTML 1KB] [PDF 1491KB] ( 735 )
1242 CHEN Lian-Hui, CHEN Shan-Shan, LIANG Li, LI Chang-Chong
Effects of asthma and inhaled corticosteroids in children on the final adult height: a systemic review and Meta analysis
Objective To evaluate the effects of asthma and inhaled corticosteroids (ICS) in children on the final adult height. Methods A search was performed to collect studies evaluating the relationship between asthma and ICS in children and the final adult height in PubMed, BCI, EMbase, Web of Science, CNKI and Wanfang databases, then a systemic review and Meta analysis were conducted. Results Six studies evaluating the relationship between childhood asthma and the final adult height were enrolled. Three of them indicated that the final adult height was not influenced by childhood asthma. Two of them suggested a mild effect, and the effect was correlated with severity of childhood asthma. One of them indicated that a lower final adult height related to childhhod asthma was found only in black females without a high school education. Four studies evaluating the relationship between ICS and the final adult height were included. Compared with the non-ICS treatment group, healthy control group and the target height, ICS treatment had no effects on the final adult height. Conclusions Childhood asthma does not or only mildly decrease the final adult height. ICS treatment does not significantly affect the final adult height.
2015 Vol. 17 (11): 1242-1247 [Abstract] ( 4874 ) [HTML 1KB] [PDF 1622KB] ( 1228 )
EXPERIMENTAL RESEARCH
1248 WEI Bing, LIU Ya-Li, ZHANG Chao, SHANG Yun-Xiao, ZHANG Han, LI Miao
Effects of NK-1R inhibitor WIN62577 on the migration of airway smooth muscle cells in asthmatic rats with airway remodeling
Objective To study the changes in the migration of airway smooth muscle cells (ASMC) in asthmatic rats with airway remodeling and the effect of NK-1R inhibitor WIN62577 on the migration of ASMC. Methods Sprague-Dawley rats were randomly assigned into two groups: airway remodeling induced by asthma and normal control. ASMC from rats with asthma and airway remodeling induced by ovalbumin (OVA) inhalation for 8 weeks were primary cultured and purified. Immunofluorescence and real-time PCR were used to measure the expression of NK-1R. With NK-1R inhibitor WIN62577 treatment, the changes in the migration of ASMC were measured by transwell chambers. Results NK-1R in ASMC was expressed mainly in the cytoplasm and cell membrane in the airway remodeling group, and the mRNA expression of NK-1R was higher than the normal control group (P<0.01). The number of the migrated ASMC in the airway remodeling group was significantly higher than that in the normal control group (P<0.01). Various concentrations (10-11 mol/L, 10-10 mol/L, 10-9 mol/L and 10-8 mol/L) of WIN62577 treatment decreased the number of the migrated ASMC (P<0.05). Conclusions NK-1R may affect airway remodeling possibly through promoting the migration ability of ASMC in rats with asthma.
2015 Vol. 17 (11): 1248-1252 [Abstract] ( 3505 ) [HTML 1KB] [PDF 2335KB] ( 675 )
CLINICAL EXPERIENCE
1253 LIU Zhu-Feng, ZHANG Bi-Li, WANG Wen-Hong
Clinical characteristics of children with acute rhabdomyolysis
No abstract available
2015 Vol. 17 (11): 1253-1256 [Abstract] ( 3007 ) [HTML 1KB] [PDF 1285KB] ( 1003 )
1257 HE Na, CHENG Sheng-Quan, YAN Wei
Clinical and pathological characteristics and prognosis of children with histiocytic necrotizing lymphadenitis
No abstract available
2015 Vol. 17 (11): 1257-1260 [Abstract] ( 3018 ) [HTML 1KB] [PDF 2022KB] ( 850 )
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