CJCP
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2016 Vol.  18 No.  12
Published: 2016-12-25

GUIDELINE & INTERPRETATION
CLINICAL RESEARCH
EXPERIMENTAL RESEARCH
REVIEW
GUIDELINE & INTERPRETATION
1199 YANG Kun-Fang, CHEN Yu-Cai
An interpretation of consensus statements on diagnostic criteria for multiple sclerosis and demyelinating diseases of the central nervous system in children (2012 version) Hot!

The International Pediatric Multiple Sclerosis Study Group (IPMSSG) put forward the 2007 version of the diagnostic criteria for multiple sclerosis and other immune-mediated demyelinating diseases of the central nervous system in children in 2007 ("2007 version" for short). In 2012, IPMSSG proposed the new diagnostic criteria with reference to the latest research achievements of 150 members ("2012 version" for short). The 2012 version of the consensus statements covers the diagnostic criteria for acute disseminated encephalomyelitis, clinically isolated syndrome, neuromyelitis optica, and multiple sclerosis in children. As the two IPMSSG members in China, the authors give an interpretation of the 2012 version of the consensus statements with reference to related literature and clinical and scientific experience. The authors focus on how the 2012 version comprehensively and thoroughly elaborates on the clinical features, diagnostic criteria, influencing factors, and new ideas of acute demyelinating diseases of the central nervous system in children. These become more operable in clinical diagnosis and treatment of multiple sclerosis and other immune-mediated demyelinating diseases of the central nervous system in children.

2016 Vol. 18 (12): 1199-1204 [Abstract] ( 2643 ) [HTML 1KB] [PDF 1028KB] ( 1023 )
CLINICAL RESEARCH
1205 GUO Li-Hua, ZHAO Wei, ZHANG Jun-Jie, ZHANG Qian, FAN Ying-Zhong, WANG Jia-Xiang
Screening and identification of apolipoprotein A-I as a potential marker for hepatoblastoma in children
Objective To screen and identify serum biomarkers for childhood hepatoblastoma (HB). Methods The serum samples from 30 children with hepatoblastoma (HB), 20 children with systemic inflammatory response syndrome, and 20 normal children were treated with magnetic bead-based weak cation exchange chromatography. The platform of surface-enhanced laser desorption/ionization-time of flight-mass spectrometry (SELDI-TOF-MS) was used to eliminate the interference of inflammatory factors and to screen out the differentially expressed proteins in serum between tumor group and normal group. After the purification and separation of target proteins were performed using sodium dodecyl sulfate-polyacrylamide gel electrophoresis, matrix-assisted laser desorption/ionization-time of flight-mass spectrometry was used to determine their amino acid sequences. The SwissProt database was searched for matched proteins. Finally, real-time PCR and ELISA were used to verify and measure the expression of target proteins. Results After SELDI-TOF-MS was used for screening and elimination of the interference of inflammatory factors, a differentially expression protein with a mass-to-charge ratio of 9 348 Da was found in serum between HB group and normal group, and the HB group had significantly lower expression of this protein than the normal group (P < 0.05). This protein was identified as apolipoprotein A-1 (Apo A-I). Real-time PCR and ELISA verified the low mRNA and protein expression of Apo A-I in serum in the HB group and high expression in serum in the normal group. Conclusions Apo A-I can be used as a non-inflammatory protein marker for HB and has a certain value in the early diagnosis of HB.
2016 Vol. 18 (12): 1205-1210 [Abstract] ( 2676 ) [HTML 1KB] [PDF 1910KB] ( 625 )
1211 TANG Xue, GUO Xia, YANG Xue, XIAO Hui, SUN Jing-Jing, YUAN Li-Xing, GAO Ju
Expression of WT1 gene in children with acute myeloid leukemia

Objective To study WT1 gene expression in children with acute myeloid leukemia (AML) and its possible correlations to clinical outcomes. Methods Bone marrow samples were collected from 45 children with AML (excluding acute promyelocytic leukemia, AML-M3) at different time points of AML treatment and follow-up. WT1 gene expression levels in bone marrow mononuclear cells were assayed by real-time fluorescence quantitative PCR. The correlation between WT1 expression and prognosis was retrospectively analyzed. Results The WT1 expression level in AML children with bone marrow blast cell percentage of > 60% was significantly higher than in those with bone marrow blast cell percentage of ≤ 60% (P < 0.05). The lower WT1 expression level was documented in children with AML-M2 compared with in children with other non-M2 subtypes (P < 0.05). WT1 expression level in patients in complete remission was significantly lower than that in patients at diagnosis or relapse (P < 0.01). The 2-year disease-free survival (DFS) in patients with higher WT1 expression was significantly lower than in those with lower WT1 expression at the end of induction chemotherapy (P < 0.05). The 2-year overall survival (OS) and DFS in patients with ≥1 log WT1 reduction range were significantly higher than those with < 1 log reduction of WT1 expression level at the end of induction chemotherapy (P < 0.05). WT1 expression levels tended to rise 2-3 months prior to bone marrow relapse. Conclusions WT1 expression level is closely correlated prognosis in children with AML. Dynamic monitoring of WT1 expression level is of great clinical importance in terms of individualized management, prognosis evaluation and relapse prediction.

2016 Vol. 18 (12): 1211-1216 [Abstract] ( 2485 ) [HTML 1KB] [PDF 1301KB] ( 1147 )
1217 ZHANG Yi, ZHANG Wei-Ling, HUANG Dong-Sheng, HAN Tao, ZHI Tian, LI Jing, YI You, WEN Yuan, LI Fan, MEI Yan-Yan, DU Yan-Yan
Clinical features and outcomes of neuroblastoma patients aged above 5 years

Objective To investigate the clinical features and outcomes of neuroblastoma (NB) children aged above 5 years, and to provide a theoretical basis for improving prognosis. Methods A retrospective analysis was performed for the clinical data of 54 previously untreated NB children, and their clinical features and outcome were analyzed. The Kaplan-Meier method was used for survival analysis. Results Among the 54 children, there were 36 boys and 18 girls, and all of them had stage 3 or 4 NB. Of all the children, 41 (41/54, 76%) had retroperitoneal space-occupying lesions, 10 (10/54, 18%) had mediastinal space-occupying lesions, 2 (2/54, 4%) had intraspinal space-occupying lesions, and 1 (1/54, 2%) had pelvic space-occupying lesions. At the end of the follow-up, 30 children (30/54, 56%) survived, among whom 23 (77%) achieved disease-free survival (9 achieved complete remission after chemotherapy for recurrence), 6 (20%) achieved partial remission of tumor (all of them received chemotherapy again due to recurrence), and 1 (3%) experienced progression (with progression after chemotherapy again due to recurrence); 24 children (44%) died, among whom 22 died after chemotherapy again due to recurrence and 2 died of multiple organ failure during the first treatment. According to the Kaplan-Meier survival analysis, the mean survival time was 53.8 months, and the children with stage 3 NB had a significantly higher overall survival rate than those with stage 4 NB (80% vs 53%;P < 0.01). The children with recurrence had a significantly lower mean survival time than those without recurrence (51.68 months vs 62.57 months;P < 0.01). Conclusions Older children often have late-stage NB, but standard treatment can improve their outcomes.

2016 Vol. 18 (12): 1217-1221 [Abstract] ( 2622 ) [HTML 1KB] [PDF 1153KB] ( 648 )
1222 CHEN Jing, LIN Tao
Expression of regulatory T cells and natural killer T cells in peripheral blood of children with Wilms tumor

Objective To study the changes and clinical significance of CD4+CD25+CD127low regulatory T cells (Treg) and CD3+CD16+CD56+ natural killer T cells (NKT) in peripheral blood of children with Wilms tumor. Methods Twenty-one children with Wilms tumor were enrolled as the case group, and twenty-one healthy children for physical examinations were enrolled as the control group. Flow cytometry was used to detect the levels of CD4+CD25+CD127low T cells and CD3+CD16+CD56+ T cells in peripheral blood of two groups. Results The level of Treg cells in peripheral blood of the case group was significantly lower than in the control group (P < 0.05). The level of NKT cells in peripheral blood of the case group was significantly higher than in the control group (P < 0.05). Conclusions Treg cells and NKT cells play important roles in the occurrence and development of Wilms tumor. Treg cells and NKT cells may be useful indexes for evaluating immunological function in children with Wilms tumor.

2016 Vol. 18 (12): 1222-1226 [Abstract] ( 2825 ) [HTML 1KB] [PDF 2192KB] ( 553 )
1227 WEI Qiao-Zhen, SU Ping, HAN Jin-Tian, ZHANG Xia, DUAN Yu-Hui
Effect of early caffeine treatment on the need for respirator therapy in preterm infants with respiratory distress syndrome

Objective To study the efficacy of early caffeine treatment in preterm infants with respiratory distress syndrome (RDS). Methods A prospective controlled clinical trial was performed. A total of 59 preterm infants with RDS were enrolled and divided into a caffeine group (30 infants) and a control group (29 infants). Caffeine was administered in the caffeine group and control group at the same dosage at 12-24 hours after birth and before extubation respectively. The respirator parameters and the incidence rates of ventilator-associated pneumonia (VAP) and apnea were compared between the two groups. Results Compared with the control group, the caffeine group had significantly lower peak inspiratory pressure, peak fraction of inspired oxygen, and incidence rate of VAP (P < 0.05), as well as significantly shorter intubation time, NCPAP time, and total duration of oxygen supply (P < 0.05). In addition, the caffeine group had a significantly longer time to first onset of apnea after extubation (P < 0.05) and significantly fewer times of onset of apnea 1-2 days after extubation (P < 0.01), as compared with the control group. Conclusions Early caffeine treatment can reduce the need for assisted ventilation in preterm infants with RDS, help with early extubation and ventilator weaning, reduce the oxygen time in the late stage, reduce the incidence of VAP, and prevent the development of apnea after extubation.

2016 Vol. 18 (12): 1227-1231 [Abstract] ( 2523 ) [HTML 1KB] [PDF 1173KB] ( 590 )
1232 YUAN Zhi-Xuan, WEN Xiao-Hong, HUANG Jin-Hua, LIU Quan, HUANG Hui-Zhi, YU Mei, MA Li
Association between maternal pre-pregnancy body mass index and adverse outcomes of late preterm infants
Objective To study the association between maternal pre-pregnancy body mass index (BMI) and adverse outcomes of late preterm infants (LPI). Methods A total of 367 LPI who were born from January 2011 to December 2015 and admitted to the neonatal ward were enrolled. The BMI criteria for Chinese population were used to analyze the factors for maternal pre-pregnancy BMI and its association with adverse outcomes of LPI (1 minute Apgar score ≤ 7, delivery room resuscitation, hospitalization days after birth > 7 days, and ventilation duration ≥ 6 hours). Results Of all LPIs, there were 64 LPI (17.4%) in the low maternal pre-pregnancy BMI group, 243 LPI (66.2%) in the normal maternal pre-pregnancy BMI group, and 60 LPI (16.4%) in the high maternal pre-pregnancy BMI group. Low pre-pregnancy BMI was the risk factor for 1 minute Apgar score ≤ 7 (OR=3.243, 95%CI:1.102-9.546) and need for delivery room resuscitation (OR=3.492, 95%CI:1.090-11.190), and high pre-pregnancy BMI was the risk factor for hospitalization days after birth > 7 days (OR=1.992, 95%CI:1.024-3.874). Conclusions Abnormal maternal pre-pregnancy BMI has adverse effects on the outcomes of LPI. In order to reduce these adverse outcomes BMI should be controlled within the normal range in pregnant women.
2016 Vol. 18 (12): 1232-1236 [Abstract] ( 2989 ) [HTML 1KB] [PDF 1201KB] ( 527 )
1237 TAN Xiu-Zhen, WU Shi-Guang, ZHANG Jian-Hua, LI Xiao-Fen, GAO Ping-Ming, WANG Yu
Clinical efficacy of porcine pulmonary surfactant combined with budesonide suspension intratracheal instillation in the treatment of neonatal meconium aspiration syndrome

Objective To study the clinical efficacy of porcine pulmonary surfactant (PS) combined with budesonide suspension intratracheal instillation in the treatment of neonatal meconium aspiration syndrome (MAS). Methods Seventy neonates with MAS were enrolled for a prospective study. The neonates were randomly assigned to PS alone treatment group and PS+budesonide treatment group (n=35 each). The PS alone treatment group was given PS (100 mg/kg) by intratracheal instillation. The treatment group was given budesonide suspension (0.25 mg/kg) combined with PS (100 mg/kg). Results The rate of repeated use of PS in the PS+ budesonide group was significantly lower than that in the PS alone group 12 hours after treatment (P < 0.05). The improvement of PaO2/FiO2, TcSaO2, PaO2, and PaCO2 in the PS+ budesonide group was significantly greater than that in the PS alone group 6, 12, and 24 hours after treatment (P < 0.05). The chest X-ray examination showed that the pulmonary inflammation absorption in the PS+ budesonide group was significantly better than that in the PS alone group 48 hours after treatment (P < 0.05). The incidence of complications in the PS+budesonide group was significantly lower than that in the PS alone group (P < 0.05), and the average hospitalization duration was significantly shorter than that in the PS alone group (P < 0.01). Conclusions PS combined with budesonide suspension intratracheal instillation for the treatment of neonatal MAS is effective and superior to PS alone treatment.

2016 Vol. 18 (12): 1237-1241 [Abstract] ( 2667 ) [HTML 1KB] [PDF 1229KB] ( 697 )
1242 LI Tao, WANG Yu, LI Cui, XU Wei-Wei, NIU Feng-Hai, ZHANG Di
Maple syrup urine disease and gene mutations in twin neonates
Objective To investigate the clinical features of one pair of twin neonates with maple syrup urine disease (MSUD) in the Chinese Han population and pathogenic mutations in related genes, and to provide guidance for the early diagnosis and treatment of MSUD. Methods The clinical and imaging data of the twin neonates were collected. The peripheral blood samples were collected from the twin neonates and their parents to detect the genes related to MSUD (BCKDHA, BCKDHB, DBT, and DLD). The loci with gene mutations were identified, and a bioinformatic analysis was performed. Results Two mutations were detected in the BCKDHB gene, missense mutation c.304G > A (p.Gly102Arg) and nonsense mutation c.331C > T (p.Arg111*), and both of them were heterozygotes. The mutation c.304G > A (p.Gly102Arg) had not been reported in the world. Their father carried the missense mutation c.304G > A (p.Gly102Arg), and their mother carried the nonsense mutation c.331C > T (p.Arg111*). Conclusions The c.331C > T (p.Arg111*) heterozygous mutation in BCKDHB gene is the pathogenic mutation in these twin neonates and provides a genetic and molecular basis for the clinical features of children with MSUD.
2016 Vol. 18 (12): 1242-1246 [Abstract] ( 2833 ) [HTML 1KB] [PDF 1484KB] ( 749 )
1247 PENG Wei, YANG Xiao, ZHU Li-Na, ZHANG Xiao-Ai, WANG Yan
Association between tumor necrosis factor-α G-308A polymorphisms and genetic susceptibility to spontaneous preterm birth
Objective To study the association between tumor necrosis factor-α (TNF-α) G-308A polymorphisms and genetic susceptibility to spontaneous preterm birth (SPTB). Methods The case group enrolled 753 SPTB infants and the control group included 681 term infants. TNF-α G-308A polymorphisms were genotyped using Sequenom MassARRAY® SNP. Results The frequencies of the allele (G and A) in the case and control groups were not significantly different (P=0.35). The frequencies of the genotypes (GG, GA and AA) in the case and control groups were not significantly different (P=0.64). The logistic regression analysis found that TNF-α G-308A was not associated with genetic susceptibility to SPTB (OR=0.85; 95%CI:0.61-1.19;P=0.35). Conclusions There is no association between the polymorphisms of TNF-α G-308A and the genetic susceptibility to SPTB.
2016 Vol. 18 (12): 1247-1253 [Abstract] ( 2305 ) [HTML 1KB] [PDF 1491KB] ( 700 )
1254 DING Lin, JI Wei, SUN Hui-Ming, JIANG Wu-Jun, GU Wen-Jing, YAN Yong-Dong, SHAO Xue-Jun
Association of T lymphocyte subsets and allergens with Mycoplasma pneumoniae infection complicated by wheezing in infants and young children

Objective To investigate the percentage of T lymphocyte subsets and allergen screening results in infants and young children with Mycoplasma pneumoniae (MP) infection complicated by wheezing. Methods Flow cytometry was used to measure the percentage of peripheral blood T cell subsets in 354 infants and young children with MP infection complicated by wheezing (MP wheezing group), 336 infants and young children with MP infection but without wheezing (MP non-wheezing group), and 277 children with recurrent wheezing (recurrent wheezing group). Allergen screening was also performed for these children. Results Both the MP wheezing group and recurrent wheezing group had significantly lower percentages of CD3+ and CD3+CD8+ lymphocytes than the MP non-wheezing group (P < 0.05). The MP groups with or without wheezing had a significantly higher percentage of CD3+CD4+ lymphocytes than the recurrent wheezing group (P < 0.05). Both the MP wheezing group and recurrent wheezing group had significantly higher percentages of CD3-CD19+ and CD19+CD23+ lymphocytes than the MP non-wheezing group (P < 0.05), and the recurrent wheezing group had the highest percentages (P < 0.05). The overall positive rate of food allergens was significantly higher than that of inhaled allergens (30.3% vs 14.7%;P < 0.05). The positive rates of food and inhaled allergens in the recurrent wheezing group and MP wheezing group were significantly higher than in the MP non-wheezing group (P < 0.05), and the recurrent wheezing group had the highest rates. Conclusions Imbalance of T lymphocyte subsets and allergic constitution play important roles in the pathogenesis of MP infection complicated by wheezing in infants and young children.

2016 Vol. 18 (12): 1254-1258 [Abstract] ( 2758 ) [HTML 1KB] [PDF 1297KB] ( 674 )
1259 YANG Yan-Zhen, CAI Meng-Yun, ZHANG Bao-Zhong, ZHOU Bing-Xin, CHEN-Rou, FANG Run-Tao
Risk factors for recurrent wheezing in infants and young children suffering from dust mite allergy after their first wheezing
Objective To investigate the risk factors for recurrent wheezing in infants and young children suffering from dust mite allergy after their first wheezing. Methods A total of 1 236 infants and young children who experienced a first wheezing episode and were hospitalized between August 2014 and February 2015 were enrolled, among whom 387 were allergic to dust mites. These infants and young children were followed up to 1 year after discharge. A total of 67 infants and young children who experienced 3 or more recurrent wheezing episodes within 1 year were enrolled as the recurrent wheezing group, while 84 infants and young children who did not experience recurrent wheezing during follow-up were enrolled as the control group. Univariate analysis and multivariate logistic stepwise regression analysis were performed to investigate the risk factors for recurrent wheezing in these patients. Results The univariate analysis showed that the age on admission, wheezing time before admission, Mycoplasma pneumoniae infection rate, and influenza virus infection rate were associated with recurrent wheezing. The multivariate logistic stepwise regression analysis showed that the older age on admission (OR=2.21,P=0.04) and Mycoplasma pneumoniae infection (OR=3.54,P=0.001) were independent risk factors for recurrent wheezing. Conclusions Infants and young children who are allergic to dust mites, especially young children, have a significantly increased risk of recurrent wheezing if they are complicated by Mycoplasma pneumoniae infection during the first wheezing episode.
2016 Vol. 18 (12): 1259-1263 [Abstract] ( 3049 ) [HTML 1KB] [PDF 1311KB] ( 466 )
1264 ZHONG Fang-Fang, ZOU Yan, LIU Chun-Yan, LIU Wen-Jun
Relationship between interleukin-17A gene polymorphisms and the susceptibility to childhood asthma
Objective To explore the relationship between polymorphisms of interleukin-17A (IL-17A) gene promoter (-197G/A and -692C/T) and the susceptibility to childhood asthma, to further identify the candidate genes for asthma, and to provide a basis for early prevention of asthma in high-risk children. Methods Sixty-five outpatients or inpatients with childhood asthma between August 2013 and August 2015 were assigned to asthma group. Seventy healthy children within the same period were assigned to control group. Using peripheral venous blood from the two groups, PCR with sequence-specific primers was carried out to determine single nucleotide polymorphisms at positions -197G/A and -692C/T in IL-17A gene promoter. A statistical analysis was used to evaluate differences in genotype and allele frequencies between the two groups. Results Compared with the control group, the asthma group had significantly higher frequencies of TT genotype (29% vs 16%;P=0.012) and T allele (52% vs 42%;P=0.039) at position -692C/T of IL-17A gene. Children with T allele had 1.413-fold higher risk of childhood asthma than those with C allele (OR=1.413, 95%CI:1.015-1.917). There were no significant differences in genotype and allele frequencies at position -197G/A in IL-17A gene between the two groups (P > 0.05). Conclusions Polymorphisms at position -692C/T in IL-17A gene promoter is associated with the susceptibility to childhood asthma. Children with -692T allele are more susceptible to childhood asthma. There is no significant relationship between polymorphisms at position -197G/A in IL-17A gene promoter and the susceptibility to childhood asthma.
2016 Vol. 18 (12): 1264-1268 [Abstract] ( 2384 ) [HTML 1KB] [PDF 1418KB] ( 664 )
1269 ZHOU Gao-Feng, WANG Hong-Mei, ZHANG Rui-Mu, DENG Ji-Kui
Influencing factors for duration of viral nucleic acid shedding in children with influenza A

Objective To investigate the features and duration of viral nucleic acid shedding in children with influenza A. Methods The clinical data of 90 children with influenza A with positive influenza A virus nucleic acid in nasopharyngeal swab detected by PCR were collected, and these children were divided into simple influenza A group (n=10), influenza A-pneumonia group (n=61), influenza A-nervous system damage group (n=10), and influenza A-underlying disease group (n=9). A retrospective analysis was performed for clinical features, treatment process, duration of viral nucleic acid shedding, and prognosis. Results The most common symptoms in these children were fever (89/90, 99%), cough (89/90, 99%), running nose (69/90, 77%), shortness of breath (26/90, 29%), and myalgia (23/90, 26%). The mean duration of viral nucleic acid shedding in 90 children was 9.4±2.9 days. The simple influenza A group had a significantly shorter duration of viral nucleic acid shedding than the influenza A-pneumonia, influenza A-nervous system damage, and influenza A-underlying disease groups (P < 0.05), while there were no significant differences between the influenza A-pneumonia, influenza A-nervous system damage, and influenza A-underlying disease groups (P > 0.05). The children who received antiviral therapy within 48 hours after disease onset had significantly shorter duration of viral nucleic acid shedding and time to body temperature recovery than those who received antiviral therapy more than 48 hours after disease onset (P < 0.05). Of all the children with body temperature recovery, 83% still tested positive for viral nucleic acid. Conclusions Complications, underlying diseases, and timing of antiviral therapy are influencing factors for the duration of influenza A virus nucleic acid shedding, and whether body temperature returns to normal cannot be used to decide whether to continue antiviral therapy.

2016 Vol. 18 (12): 1269-1271 [Abstract] ( 3172 ) [HTML 1KB] [PDF 1191KB] ( 571 )
1272 GUO Chun, ZHONG Li-Li, YI Hong-Ling, CHEN Min
Clinical value of fluorescence lateral flow immunoassay in diagnosis of influenza A in children
Objective To evaluate the clinical value of a new type of fluorescence lateral flow immunoassay in rapid detection of influenza A virus. Methods A total of 378 samples of nasopharyngeal secretions were collected from 378 children with influenza-like symptoms to detect the influenza A virus by fluorescence lateral flow immunoassay, colloidal gold immunoassay, and RT-PCR between July 2015 and August 2015. Results Of the 378 samples, 81 (21.4%) were positive for influenza A virus by RT-PCR. Compared with RT-PCR, the sensitivities of fluorescence lateral flow immunoassay and colloidal gold immunoassay were 90.1% (73/81) and 75.3% (61/81), respectively, and the specificities were 99.3% (295/297) and 98.3% (292/297), respectively. The average threshold cycle (Ct) value for the positive samples detected by the fluorescence lateral flow immunoassay (30.6) was higher than that for the positive samples detected by the colloidal gold immunoassay (28.7). Conclusions Compared with colloidal gold immunoassay, fluorescence lateral flow immunoassay has higher sensitivity, specificity, and concordance rate with RT-PCR, suggesting that it can be used for early screening and diagnosis of influenza A.
2016 Vol. 18 (12): 1272-1276 [Abstract] ( 2599 ) [HTML 1KB] [PDF 1342KB] ( 516 )
1277 FAN Jie, MU Li-Hong, ZHOU Li, HUANG Xin, HUANG Yan-Feng
Association between IL-19 gene polymorphisms and hepatitis B virus susceptibility in children

Objective To study the association between the single nucleotide polymorphisms (SNP) of interleukin (IL)-19 and susceptibility to hepatitis B virus (HBV) infection in children. Methods A case-control study was performed, and 136 children with positive HBsAg (case group) and 297 healthy children with negative HBsAg (control group) were enrolled. PCR and DNA sequencing were used for genotyping. Results There were significant differences in the frequencies of genotypes of IL-19 rs1798 between the case and control groups. The case group also had a significantly higher proportion of children with CG genotype than the control group (P < 0.05). There were significant differences in the frequencies of genotypes and alleles of IL-19 rs2243191 between the HBV infection and non-infection groups among children who born to HBV-positive mothers. The infection group had significantly higher proportions of children with TC and CC genotypes and C allele than the non-infection group (P < 0.05). Conclusions The SNP of IL-19 rs1798 may be associated with susceptibility to hepatitis B in children, and the SNP of IL-19 rs2243191 may be associated with susceptibility to breakthrough HBV infection in children at a high risk of HBV infection.

2016 Vol. 18 (12): 1277-1281 [Abstract] ( 2493 ) [HTML 1KB] [PDF 1438KB] ( 445 )
1282 TAN Jian-Qiang, CHEN Da-Yu, LI Wu-Gao, LI Zhe-Tao, HUANG Ji-Wei, YAN Ti-Zhen, CAI Ren
CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency
This study aimed to identify the type of carnitine palmitoyltransferase 2 (CPT2) gene mutation in the child with carnitine palmitoyltransferase II (CPT II) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old female baby was admitted to the hospital due to fever which had lasted for 8 hours. Tandem mass spectrometric analysis for blood showed an elevated plasma level of acylcarnitine, which suggested CPT II deficiency. The genomic DNA was extracted from peripheral blood of the patient and her parents. Five exon coding regions and some intron regions at the exon/intron boundaries of the CPT2 gene were analyzed by PCR and Sanger sequencing. Amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of CPT2 gene mutation. Sanger sequencing results showed that two mutations were identified in the CPT2 gene of the proband:c.886C > T (p.R296X) and c.1148T > A (p.F383Y), which were inherited from the parents; the second child of the mother inherited the mutation of c.886C > T (p.R296X) and showed normal acylcarnitine spectrum and normal development after birth. It is concluded that the analysis of CPT2 gene mutations in the family suggested that the proband died of CPT II deficiency and that the identification of the mutations was helpful in prenatal diagnosis in the second pregnancy.
2016 Vol. 18 (12): 1282-1285 [Abstract] ( 3038 ) [HTML 1KB] [PDF 1397KB] ( 609 )
1286 MA Xiao-Yun, LI Zhao, WANG Xue-Jun, YE Jian-Jun, MA Yong-Ping, LI Ying
Clinical efficacy of different doses of gamma globulin combined with glucocorticoid in treatment of moderate/severe acute Guillain-Barré syndrome in children: a comparative analysis
Objective To investigate the clinical efficacy and safety of intravenous injection of low-dose versus high-dose gamma globulin combined with glucocorticoid pulse therapy in the treatment of children with moderate/severe acute Guillain-Barré syndrome (GBS). Methods A total of 100 children with moderate/severe acute GBS were randomly assigned to low-dose group (n=48) and high-dose group (n=52). The children in the low-dose and high-dose groups were treated with 0.2 g/ (kg·d) and 0.4 g/ (kg·d) gamma globulin respectively combined with methylprednisolone. The two groups were compared in terms of the time to improvements of symptoms after treatment, serum levels of inflammatory factors, proportion of children undergoing invasive ventilation, treatment response rate, and adverse events. Results After 5 days of treatment, the low- and high-dose groups had significant reductions in serum levels of tumor necrosis factor-α, interleukin-6, and C-reactive protein, and there were no significant differences in the reductions of these markers between the two groups. There were no significant differences between the two groups in the time to recovery of respiratory muscle paralysis, time to an improvement in muscle strength of one grade, time to recovery of sensory disturbance, and length of hospital stay. There was no significant difference in the treatment response rate between the low- and high-dose groups (90% vs 92%). There were also no significant differences in the incidence rates of pyrexia, headache, nausea, and palpitation between the two groups. Conclusions Low-dose versus high-dose gamma globulin combined with methylprednisolone pulse therapy have comparable clinical efficacy and safety in the treatment of children with moderate/severe acute GBS.
2016 Vol. 18 (12): 1286-1290 [Abstract] ( 2531 ) [HTML 1KB] [PDF 1428KB] ( 579 )
1291 LIU Yin, LI Guang-Min, LI Shu-Hua, WANG Xiao-Qing, LI Su-Rong, ZHANG Jing, WANG Hong-Fang, PANG Bao-Dong, WU Jia-Hua
Clinical features of mild encephalitis/encephalopathy with a reversible splenial lesion in children
Objective To investigate the clinical features of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children. Methods The clinical data of 8 children with MERS were retrospectively analyzed. Results The mean age of onset was 5 years and 2 months (range 10 months to 12 years). The major clinical features included a history of prodromal infection, and among these children, 5 had pyrexia and 4 had vomiting. Of all the children, 6 were manifested as convulsion and 3 each were manifested as disturbance of consciousness and paroxysmal paropsia. Cranial diffusion-weighted magnetic resonance imaging (MRI) showed high signals in the splenium of the corpus callosum. Among these children, one child had symmetric and multiple long T1 and long T2 signals in the bilateral centrum semiovale and part of the temporal white matter. MRI reexamination performed after 5-30 days showed the disappearance of abnormal signals in all the children. The children were followed up for 3 months to 2 years, and no child experienced abnormal neurodevelopment. Conclusions The development of MERS in children is closely associated with infection. MERS is characterized by high signals in the splenium of the corpus callosum on cranial diffusion-weighted MRI. Most children have good prognosis.
2016 Vol. 18 (12): 1291-1295 [Abstract] ( 2955 ) [HTML 1KB] [PDF 2098KB] ( 656 )
EXPERIMENTAL RESEARCH
1296 HAO Feng-Yan, QU Yi, ZHANG Li, HUANG Lan, LIU Hai-Ting, LI Jiao, MU De-Zhi
The neuroprotective role of exogenous TERT gene in neonatal rats with hypoxic-ischemic brain damage

Objective To study the effect of telomerase reverse transcriptase (TERT) on cell apoptosis in neonatal rat brains after hypoxic-ischemic brain injury (HIBD). Methods A total of 72 neonatal rats were divided into sham, vehicle, HIBD and TERT groups. HIBD was induced by Rice method in the later three groups. The neonatal rats in the vehicle and TERT groups were injected with plasmids containing mock or full length TERT by an intracerebroventricular injection 30 minutes after hypoxic-ischemic (HI) injury. Pathological changes of brain tissue were observed by hematoxylin and eosin (HE) staining. Western blot was used to detect the protein expression of TERT, apoptosis-inducing factor (AIF) and cleaved caspase 3 (CC3). Apoptotic cells were detected by TUNEL staining. Results Western blot showed that TERT protein was dramatically increased in the vehicle, HIBD and TERT groups compared with the sham group. Compared with the vehicle and HIBD groups, TERT protein in the TERT group was significantly upregulated. Compared with the sham group, there was a significant increase in apoptotic index and expression of AIF and CC3 proteins in the vehicle and HIBD groups (P < 0.01). The TERT group showed decreased expression of AIF and CC3 proteins and apoptotic index compared with the vehicle and HIBD groups (P < 0.01). Conclusions TERT can inhibit cell apoptosis induced by HI and might have a neuroprotective role in developing brain with HIBD.

2016 Vol. 18 (12): 1296-1301 [Abstract] ( 2808 ) [HTML 1KB] [PDF 1724KB] ( 591 )
1302 ZHANG Ying-Hui, YANG Yang, ZHANG Cun, SUN Yi-Fan, ZHU Wen, MA Cheng-Ling, ZHOU Xiao-Yu
Prediction of microRNA-296-5p target genes and its application in lung development
Objective To predict the target genes of rno-microRNA-296-5p (miR-296) using bioinformatics software and databases, and to provide a theoretical basis for further studies of biological effects of miR-296 in fetal lung development. Methods PubMed and Google were used to search for all reported literature on miR-296. The miRBase database was used to determine the sequence and evolutionary conservatism of miR-296. The TargetScans database was used to predict the target genes of miR-296. The DAVID Bioinformatics Resources 6.8 database was used for the functional enrichment analysis of the target genes. The KEGG database was used to analyze the signaling pathways of target genes. Results miR-296 was reported to play important roles in many biological processes and have a high degree of sequence conservation among species. The target genes of miR-296 were involved in biological processes, cell components, and molecular function. Those target genes were significantly enriched in the mitogen-activated protein kinase signaling pathway, Wnt signaling pathway, and transforming growth factor-β signaling pathway (P < 0.05). Conclusions The bioinformatics analysis of the target genes of miR-296 provides a basis for studying biological effects and mechanism of action of miR-296 in lung development.
2016 Vol. 18 (12): 1302-1307 [Abstract] ( 2311 ) [HTML 1KB] [PDF 1573KB] ( 409 )
REVIEW
1308 KONG Rui, SONG Ran-Ran
Research advances in susceptible genes for developmental dyslexia in children
Developmental dyslexia in children is one of the neurodevelopmental disorders and is affected by various susceptible genes. In recent years, researchers have found some susceptible genes for dyslexia via chromosome analysis, genome-wide association studies, association analysis, gene function research, neuroimaging, and neurophysiological techniques. This article reviews the research advances in susceptible genes for developmental dyslexia, and with the study on susceptible genes for dyslexia, it lays a foundation for in-depth studies on the "gene-brain-behavior" level and provides scientific clues for exploring etiology and pathogenesis of dyslexia.
2016 Vol. 18 (12): 1308-1312 [Abstract] ( 2665 ) [HTML 1KB] [PDF 1415KB] ( 590 )
1313 IU Hui, TONG Xiao-Mei
Clinical evaluation and management of neonates with disorder of sexual development
Disorder of sexual development or disorder of sex differentiation (DSD) refers to the inconsistency between karyotype and gonad phenotype and/or gonad anatomy in neonates and is manifested as the difficulty in identifying neonates' sex. According to the karyotype, DSD is classified as 46,XY DSD, 46,XX DSD, and sex chromosome DSD. A combination of detailed medical history, physical examination, and laboratory and imaging examinations is required for the diagnosis and comprehensive assessment of neonatal DSD and the determination of potential causes in clinical practice. Sex identification can only be made after all diagnostic evaluations have been completed. Sex identification of DSD neonates is influenced by various medical and social factors, including genotype (karyotype), sex hormones (levels of testosterone, dihydrotestosterone, and adrenal steroids), sex phenotype (appearance of internal and external genitals), reproduction (fertility potential), feelings of their parents, and even social acceptance and religious customs. A team with multidisciplinary cooperation is required, and patients must be involved in the whole process of sex identification. The major task of neonatal physicians for DSD is to assess the condition of neonates and provide management.
2016 Vol. 18 (12): 1313-1318 [Abstract] ( 2430 ) [HTML 1KB] [PDF 1606KB] ( 774 )
1319 YANG Xue, DONG Xiang-Yu
Research advances in association between vitamin D and Kawasaki disease and related mechanisms of action
Vitamin D is an important steroid hormone, which has a wide biological effect and is the protective factor against cardiovascular disease and other diseases. At present, the etiology and pathogenesis of Kawasaki disease (KD) remain unknown, but recent studies have shown that vitamin D insufficiency or deficiency is associated with KD. Vitamin D insufficiency or deficiency may affect KD via its influence on inflammatory response, adipokine, endothelial function, platelet function, and DNA methylation and increase the risk of coronary artery lesions. This article reviews the research advances in the association between vitamin D and KD and possible mechanisms of action.
2016 Vol. 18 (12): 1319-1323 [Abstract] ( 3291 ) [HTML 1KB] [PDF 1475KB] ( 568 )
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