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Original Papers

  • Multicenter survey on the clinical features and fundus lesions of retinopathy in premature infants in mainland China
  • Collaboration group of retinopathy of premature infants
  • 2015 Vol. 10 (3): 161-165. DOI:
  • Abstract ( 815 ) PDF (660KB)( 2909 )
  • Objective To reflect the incidence and epidemiological characteristics of retinopathy of premature (ROP) infants in China by multi-center screening. Methods Hospitals having the qualification to perform ROP screening in China were invited to participate in the multicenter survey on clinical features and fundus lesions of retinopathy of premature infants since June 1st 2010 to June 1st 2012. Neonates aged over 4 weeks or with corrected gestational age over 32 weeks were initially taken ROP screening by fundus examination using indirect ophthalmoscopy or fundus mirror. The follow-up schedule was decided according to the International Classification of ROP (ICROP). Results A total of 6 091 patients from 22 hospitals in 7 administrative regions in China were enrolled, including neonates with birth weight below 2 000 g or gestational age younger than 34 weeks or taking oxigen therapy for more than 5 days. The incidence of ROP was 15.2% (924/6 091). 92.3%(853/924) neonates with ROP were classified as stage 1 or 2, and 7.7% (71/924) neonates were diagnosed as severe ROP (stage 3 or above). Sixty-nine patients, all classified as stage 3 or above, received the laser therapy.The average birth age of ROP group was (30.2±2.2) (28-36+5) weeks. The average birth weight of ROP group was (1 364±344), ranged from 624 g to 3 400 g. The less the birth weight and birth gestational age the higher the incidence rate of severe ROP, however, the incidence of mild ROP did not follow this trend. Stages 4 and 5 of ROP appeared only in those infants whose birth weight less than 1 250 g or birth gestational age younger than 30 weeks .The overall incidence was lower in the maternal and children's care centers than in the children's hospitals and general hospitals. Conclusion The overall incidence of ROP in the whole country was 15.2%, and the incidence was higher in premature infants with gestational age less than 30 weeks and birth weight less than 1 500 g (46.9% and 30.6%, respectively).

  • A variant in TBX2 3'UTR, rs59382073, is significantly associated with susceptibility of sporadic congenital heart disease in Chinese Han population
  • WANG Feng, ZHANG Ping, DUAN Wen-yuan, YU Li-wei, ZHAO Jian-yuan, GUI Yong-hao
  • 2015 Vol. 10 (3): 166-170. DOI:
  • Abstract ( 754 ) PDF (1157KB)( 1554 )
  • Objective To investigate the association between TBX2 3'UTR variants and the susceptibility of sporadic congenital heart disease (CHD) in Chinese Han population and to reveal the possible mechanism. Methods Patients with non-syndromic CHD diagnosed in Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region from August 2010 to April 2012 were included in CHD group, and healthy children receiving physical examination in this hospital during the same period as the control group. Twenty-four CHD cases and the same number of controls were selected to undergo TBX2 3'UTR DNA sequencing. According to our screening results, the identified variants were chosen for genotying by SNaPshot and association analysis in both groups. Then cell transfection and luciferase activity tests were conducted in functional analysis of the positive variant. Results A total of 768 cases were enrolled in CHD group, with mean age 6.1±4.8 years and 383 male subjects (49.9%). The control group included 660 subjects, with mean age 6.5±3.2 years and 354 male subjects (53.6%). ①Three known SNPs in 3'UTR were identified by DNA sequencing in our 24 CHDs and 24 controls: rs59382073, rs1058004 and rs729782. There was no novel variant. ②The initial association study in 288 cases and 288 controls indicated that genotypes of rs59382073 distributed significantly differently between groups (P=0.012), whereas no statistic disparity was observed for the rest two SNPs (P>0.05). Therefore, the two negative SNPs were not tested in the following subjects. ③Our all case-control analysis indicated that TBX2 3'UTR rs59382073 variant was significantly associated with susceptibility of sporadic CHD. CT/TT genotype was significantly assocaited with higher risk of CHD (adjusted OR=2.13, 95%CI:1.51-2.99, P=1.44×10-5), and conotruncal defects (OR=2.75, 95%CI:1.57-4.81,P=3.99×10-4). And in stratified analysis, this association was further confirmed in tetralogy of Fallot (OR=3.18, 95%CI:1.53-6.61,P=1.90×10-3, compared with CC) and in ventricular septal defect(OR=1.70, 95%CI:1.17-2.46,P=5.14×10-3). ④Functional analysis of cells suggested that the luciferase activities of the T allele transfection were downregulated by 29.2% and 33.6% than the G allele in HEK 293T and H9C2 cells, respectively. Conclusion Overall, our data indicated that TBX2 3'UTR rs59382073 polymorphism could significantly increase the susceptibility of sporadic CHD in Chinese Han population. The difference in luciferase activities between the two alleles demonstrates that TBX2 3'UTR rs59382073 might be a functional polymorphism.

  • Safety and feasibility of inhaled carbon monoxide treatment for neonates with stabilized pneumonia: a randomized-blinded study
  • WANG Can, CAI Kang-xing, CHEN Long, WANG Nan, SHI Yuan
  • 2015 Vol. 10 (3): 171-175. DOI:
  • Abstract ( 811 ) PDF (631KB)( 1799 )
  • Objective The aim of the present study was to investigate the feasibility, safety and anti-inflammatory and anti-oxidant properties of carbon monoxide (CO) inhalation in term infants. Methods Neonates with pneumonia in NICU of Daping Hospital of Third Military Medical University from March 2013 to June 2013 were randomly divided into 8 groups, respectively inhaled 0, 10, 20, 30, 40, 50, 60, 70 mg·L-1 of CO for 2 h; during CO inhalation,observating the reaction of subjects, continuous monitoring of heart rate, blood oxygen saturation, respiration and blood pressure and other vital signs, detecting the serum levels of carboxyhemoglobin (COHb) concentration before inhalation (0 h) and 2 and 5 h after inhalation to evaluate the feasibility and safety of inhaled CO. The total antioxidant capacity (TAOC), malondialdehyde (MDA) and macrophage inflammatory protein-2 (MIP-2) levels before inhalation (0 h) and 2 and 5 h after inhalation were detected to evaluate anti-inflammatory and antioxidant effects of CO. Results 48 infants met the inclusion and exclusion criteria and were taken into the observation, 6 cases in each group. Baseline index between 8 groups did not significantly differ. ①One neonate in 70 mg·L-1 group was discontinued for adverse effects and others enrolled patients were completed the study ultimately. There were no significant changes of carboxyhaemoglobin among 8 groups.②With the increase of iCO concentration, macrophage inflammatory protein-2 showed a reducing trend among groups (F=212.437, P<0.001) and time points (F=4.603, P=0.001), and TAOC showed sigificant difference between three times points (F=9.618, P=0.005). No significant changes of advanced oxidation protein products and malondialdedyde concentrations during the course of iCO were found among time points and groups. Conclusion iCO≤60 mg·L-1 in term neonates with pneumonia in a stable phase was feasible and safe, and induced anti-inflammatory and anti-oxidant effects. Application of inhalation CO therapy in neonates is worthy of further study.

  • Curative effect and prognostic analysis in the treatment of neuroblastoma based on American Children's Oncology Group's Protocol in 68 cases
  • CUI Xi-mao, DONG Kui-ran, LI Kai, XIAO Xian-min, YAO Wei, LIU Gong-bao
  • 2015 Vol. 10 (3): 176-181. DOI:
  • Abstract ( 847 ) PDF (1132KB)( 1965 )
  • Objective To summarize prognosis of the COG chemotherapy regimens on neuroblastoma (NB) and to discuss the relationship between age at diagnosis and prognosis. Methods Consecutive patients newly diagnosed with NB were included from January 2007 to March 2013. The prognosis of children with different risk and INSS staging was retrospectively analyzed. ROC (receiver operating characteristic) curve of the age at diagnosis of EFS was analyzed to predict prognosis. Results All 68 cases including 41 males and 27 females were recruited. The staging of patients was determined by INSS system including 7 cases in stage Ⅰ (10.3%), 14 in stage Ⅱ (20.6%), 11 in stage Ⅲ (16.2%), 23 in stage Ⅳ (33.8%) and 13 in stage Ⅳs (19.1%). Twenty-four cases were assessed to be with low risk, 14 with intermediate risk, and 30 with high risk. ①28 cases with high risk undertook preoperative induced chemotherapy, the very good partial remission rate was 60.7%(17/28), partial remission rate was 14.3%. 60/68 patients undertook operative treatment, gross total resection rate was 71.7%. ②8 cases lost to be followed-up, 32 cases follow-up for 5 years. The overall survival (OS) rates of 5 years were 65.6%. Among the total of the above-mentioned, OS rate in stage Ⅲ was 66.7%, and 22.2% in stage Ⅳ. Five years event-free survival (EFS) rate was 59.4%, 50.0% in stage Ⅲ, and 11.1% in stage Ⅳ. The outcomes of patients with GTR were much better than those without GTR (70.2% vs 57.4%). ③5/30 patients were MYCN positive (4 in stage Ⅳ and 1 in stage Ⅱ), OS rate of 2 years was 40%, EFS rate of 2 years was 20%; 25 patients were MYCN negative, OS rate of 2 years was 92%, EFS rate of 2 years was 88%. ③The AUC of ROC was 0.713. When the age at diagnosis was 2.4 years old which was the cutoff, sensitivity was 75.0%, specificity was 66.7%. Conclusion The five years of OS and EFS rates in stage Ⅳ NB children were 22.2% and 11.1%. Gross total resection of the tumor was correlated with patients' outcome and it still took an important role in the treatment for NB. ROC curve showed age at diagnosis > 2.4 years old indicated poor prognosis.

  • The postoperative complications and prognosis of the children with Down's syndrome undergoing congenital heart disease surgery: a case-control study
  • LIU Cheng-jun, MAO Si-yuan, FU Yue-qiang, BAI Ke, XU Feng
  • 2015 Vol. 10 (3): 182-186. DOI:
  • Abstract ( 885 ) PDF (585KB)( 1606 )
  • Objective To explore the postoperative clinical characteristics, complications and prognosis of patients with Down's syndrome(DS) undergoing congenital heart disease(CHD) surgery. Methods Children with DS undergoing CHD surgery between January 1, 2009 and June 30, 2013 were recruited as DS group, and children with non-DS undergoing CHD surgery in the same period were selected as the control group. The age and types of CHD in DS group and control group were matched. Two groups were all divided into simple CHD subgroup and complex CHD subgroup according to the type of CHD.The clinical characteristics, complications and prognosis of two groups were retrospectively analyzed. Results A total of 77 cases were enrolled in DS group and 77 cases in control group. The age, gender, bodyweight and types of CHD did not differ between DS group and control group.Ventilation duration, PICU stay, and the incidence of low cardiac output syndrome(LCOS),pulmonary infection, reintubation, pulmonary hypertension were much higher in DS group than those in control group [52.2(35.5-83.2) h vs 29.4(21.5-55.8) h;(5.1±2.4) d vs (3.8±3.6) d,respectively, all P<0.05]. No statistically significant differences in in-hospital mortality rates were seen for patients in two groups(6.5% vs 1.3%, P>0.05). By hierarchical analysis, there was no significant difference in clinical characteristics, complications and mortality rates in DS and control group in simple CHD subgroup, but in complex CHD subgroup, ventilation duration, PICU stay, hospital stay [87.4(65.3-122.6) h vs 48.3(25.3-73.5) h, (7.2±2.6) d vs (4.4±2.8) d, (24.4±8.3) d vs (19.5±5.5) d, respectively, all P<0.05)and the incidence of LCOS,pulmonary infection and pulmonary hypertension were much higher in DS group than those in control group (45.2% vs 20.0%, 32.3% vs 10.0%, 67.7% vs 30.0%, respectively, all P<0.05). The mortality rate was higher in complex CHD of DS group than that in control group(12.9% vs 3.3%, P>0.05). Conclusion DS did not increase mortality rate of children undergoing CHD surgery and had no effect on postoperative complications of simple CHD, but increased the risk of postoperative complications and mortality of complex CHD.

  • The diagnostic value of real-time PCR in group B Streptococci detection: a systematic review and meta analysis
  • ZHENG Xue-yan, WEI Hong
  • 2015 Vol. 10 (3): 187-192. DOI:
  • Abstract ( 693 ) PDF (3694KB)( 1513 )
  • Objective To evaluate the diagnostic value of real time polymerase chain reaction(RT-PCR)in group B Streptococci(GBS) detection. Methods PubMed,Cochrane Library,China Biology Medicine disc(CBM disc),VIP citation databases,Wanfang database, CNKI were searched to recruit studies which evaluated the diagnostic value of RT-PCR compared with the conventional bacteria culturing method in late trimester of pregnant women and neonates aged below 7 days. The data were analyzed by using Meta Disc 1.4 software. The diagnostic value of RT-PCR in GBS detection was evaluated by the pooled sensitivity, pooled specificity, pooled likelihood ratio (LR) and area under curve (AUC) of summary receiver operating characteristic curve (SROC curve) statistical indicators. Results Seventeen literatures (twenty researches) were collected and 5 660 cases(5 938 pairs of specimens ) were included in the study . ①The pooled sensitivity and specificity were 0.93(95%CI:0.90-0.94) and 0.94(95%CI:0.93-0.95). The pooled positive likelihood ratio (PLR) and negative likelihood ratio(NLR) were 13.81(95%CI:8.80-21.69) and 0.11(95%CI:0.06-0.20) respectively. SROC area under the curve (AUC) was 0.972 1,Q* was 0.923 3. ②The sensitivity analysis of removing studies with sample capacity<100, domestic studies, studies with unclear period to collect samples and with unclear target gene,showed the confidence interval of the diagnostic parameters almost overlapped with the original data. ③Heterogeneity test showed remarkable heterogeneity. Subgroup analysis showed heterogeneity came from research object and target gene partly and sample type may not be the cause of heterogeneity. Conclusion RT-PCR had great value of diagnostic efficiency,and could be one of the valuable reference tests in early diagnosis of pregnant women in late trimester and neonatal GBS infection.

  • Musculoskeletal ADEs of levoquin in children:a systematic review
  • LIU Li-mei, YUAN Yong-hua, XIE Meng-yao ,GU Rong, ZHAO Xiao-dong
  • 2015 Vol. 10 (3): 193-197. DOI:
  • Abstract ( 813 ) PDF (804KB)( 2077 )
  • Objective To evaluate musculoskeletal adverse drug events(ADEs) of levaquin in children. Methods Clinical studies involving levaquin used in children were identified from PubMed,Cochrane Library,OVID,EBSCO, CNKI, VIP and Wanfang Database. Other resources were searched manually, including State Food and Drug Adminstration (SFDA), Drug Adverse Event Report, WHO Pharmaceuticals Newsletter and FDA Drug safety Newsletter,and search time was from 1993 to 2015.Data were extracted and evaluated according to the inclusion and exclusion criteria and then the quality of included randomized clinical trials (RCTs) was evaluated. Results A total of 286 studies were found and 11 studies were finally included in the systematic review,including 5 RCTs , 6 case series and 2 postmarketing surveillance reports. Quality of 2 of the 5 RCTs was good, and the others were low. Twenty-five reports applying levaquin in children were found in FDA website. Two RCTs showed in levaquin group and control group musculoskeletal ADEs rate was not statistically significant, but others were not, owing to the limitation of low sample size and simple record in follow-up.Three case serieses reported musculoskeletal ADEs, 14 with slight bone pain (14/26),1 claudication, 1 ankle pain(2/204),1 metacarpophalangeal polyarthritis and 1 ankle arthralgia(2/5).The symptoms disappeared after stopping the drug or off the therapy. Two postmarketing surveillance (1 study, n=2 233) reports showed musculoskeletal disorder rate of levaquin ranged from 1.7% to 3.4%. After 1 year, musculoskeletal disorder rate of levaquin group was higer than that of control group, but in 2 to 5 years follow-up of two groups it became similar. The main symptoms of the 8 reports were musculoskeletal ADEs. Because of the incomplete information, 6 reports could not be evaluated, and 2 reports evaluation was possible. Both FDA and CFDA approved children (>6 months )with inhalation anthrax (exposed) using levaquin. EMA allowed to use levofloxacin for the treatments of cystic fibrosis. Conclusion The present profile shows the low musculoskeletal ADEs rate of levaquin and most relief in the follow-up in children to provide the evidence of levaquin off label use after comprehensive risk and benefit assessment.

  • Efficacy and safety of noninvasive ventilation with heliox treatment for respiratory distress syndrome in preterm infants: a systematic review and meta-analysis
  • CHEN Long, LI Xue, WANG Li, WANG Nan, LI Jie, SHI Yuan
  • 2015 Vol. 10 (3): 198-201. DOI:
  • Abstract ( 737 ) PDF (970KB)( 1958 )
  • Objective To assess the effectiveness and safety of non-invasive ventilation with heliox in preterm infants with respiratory distress syndrome (RDS) and to compare with medical gas. Methods A search of major electronic databases for randomized or quasi-randomized controlled trials that compared non-invasive ventilation with heliox versus non-invasive ventilation with medical gas for preterm infants with RDS was performed. Data from included trials were extracted, on standard data collection forms, independently by three reviewers. The incidence of intubation and level of PaCO2 were selected as primary outcomes, and the incidence of compliactions and duration of NIV were selected as secondary outcomes. Review Manager 5.2 software was used to perform the Meta-analysis. Results Three trials including 123 preterm infants were assessed in the review. Two of three trials had low risk of randomization and allocation. The results of 3 trials were complete. The blinding of participants was unknown in 3 trials. Heliox was found to significantly decrease the incidence of intubation (RR=0.42, 95%CI: 0.23 to 0.78) and the level of PaCO2 (Mean difference=-9.61 mmHg, 95%CI: -15.76 to -3.45 mmHg) compared with medical gas. No heliox related adverse events were reported in 3 inclued trials. No significant differences were found in BPD and other outcome variables between the two groups. Conclusion Non-invasive ventilation with heliox could reduce the incidence of intubation and the level of PaCO2 in preterm infants suffering from RDS. Larger trials with enough samples and long duration of heliox administration are needed to verify the beneficial effects.

  • Relationship between serum 25-hydroxyvitamin D and parathyroid hormone of Chinese Han children aged from 4 months to 14 years during summer in Shijiazhuang city
  • HAN Xiao, YAN Xue, ZHANG Ya-nan, XU Jia-chen, PI Ya-lei, ZHANG Hui-feng
  • 2015 Vol. 10 (3): 202-205. DOI:
  • Abstract ( 717 ) PDF (824KB)( 1597 )
  • Objective To explore the relationship between serum 25-hydroxyvitamin D (25OHD) and intact parathyroid hormone (PTH) of Chinese children aged from 4 months to 14 years and to examine a threshold value of serum 25OHD at which serum iPTH levels decreased and reached a plateau. Methods The subjects aged from 4 months to 14 years who came to division of nutrition, growth and development & endocrinology of department of pediatrics, Second Hospital of Hebei Medical University during June to August in 2011 and 2012 for health examination were recruited on the basis of informed consent. Fasting venous blood was collected and serum 25OHD, PTH, alkaline phosphates (ALP), calcium (Ca) and phosphorus (P) were assayed. Data were analyzed by using SPSS 13.0 software. Multiple linear regressions were used between variables besides bivariate correlations. Linear and quadratic polynomial fitting, cubic polynomial fitting and Loess fitting were used to assess the relationship between 25OHD and iPTH respectively. Results A total of 632 subjects including 372 boys and 260 girls were recruited. ①Serum 25OHD was inversely correlated with serum PTH (R=-0.246, P<0.001). Serum 25OHD was inversely correlated with age (R=-0.643, P<0.001). Serum PTH was positively correlated with age (R=0.15, P<0.001). ②According to the scatter plot of 25OHD and PTH, the quadratic polynomial fitting was the best one to describe the relation. The equation was PTH(pmol·L-1)=4.2698-0.0352D+0.0002D2(R2=0.068 4). D referred to serum 25OHD levels (nmol·L-1). When differential coefficient equaled to 0, the 25OHD level was 88 nmol·L-1. So 88 nmol·L-1 was considered as the cutoff value at which serum PTH levels decreased and reached a plateau. When serum 25OHD was 88 nmol·L-1, the serum PTH level was 2.72 pmol·L-1. Conclusion In 4 months to 14 years old Chinese children, serum 25OHD inversely correlates with serum iPTH. The ideal serum 25-hydroxyvitamin D levels may be 88 nmol·L-1 for Chinese infants, children and adolescents.

  • Comparison of clinical features of hand, foot, and mouth disease caused by coxsackievirus A6 and enterovirus 71
  • YAN Xiang ,LIU Quan-bo
  • 2015 Vol. 10 (3): 206-209. DOI:
  • Abstract ( 861 ) PDF (1411KB)( 1703 )
  • Objective To investigate the difference of clinical features of hand, foot, and mouth disease (HFMD) caused by coxsackievirus A6 (CA6) and enterovirus 71 (EV71). Methods Inpatients with HFMD admitted to Children's Hospital of Chongqing Medical University from September 2013 to August 2014 were collected. Complications and sequelae were investigated by follow-up interviews. Results A total of 887 inpatients with HFMD including 438 cases in EV71 group and 43 cases in CA6 group were recruited. There were different peaks in two groups: the largest proportion from January to March in CA6 group and the significant peak from April to July in EV71 group. The age of patients in the CA6 group was younger than that of EV71 group,(17.6±8.7) months vs (27.2±18.2) months, P<0.05. The rate of fever and manifestations of neurologic involvement including vomiting (16.3%), startle response (4.7%) and limb trembling (2.3%) were significantly lower in CA6 group than in EV71 group (all P<0.05). The distribution of rashes involving trunks (69.8%), limbs (69.8%), perioral area (32.6%) and externalia (9.3%) and the morphology of rashes as vesicle (53.5%) were significantly associated with that in CA6 group (all P<0.05). All the children in CA6 group recovered smoothly and received follow-up interviews after therapy successfully . While 428 children(97.7%) were recovered and 1 child(0.2%) was dead in EV71 group. And only 347 cases (79.4%) completed the interviews in EV71 group. The rate of onychomadesis and desquamation was significantly higher in CA6 group (all P<0.05). All the children in CA6 group showed total recovery without any sequela, however 8 children suffered from paralysis and 1 child had epilepsy with EV71 infection. Conclusion The occurrence of HFMD had different seasonal distribution between two groups. Compared with those infected by EV71, the children with CA6 infection were younger. And the patients in CA6 group presented with widespread distribution and various morphology of rashes, had fewer manifestations of neurologic involvement and a relatively better prognosis. Moreover, it had higher rate of onychomadesis and desquamation.

  • Down's syndrome in concomitant with Hashimoto thyrotoxicosis ,recurrent cerebral infarction: one case report and literature review
  • CHANG Zhuo, LUO Fei-hong, XI Li , CHENG Ruo-qian , ZHANG Miao-ying , LI Xiao-jing
  • 2015 Vol. 10 (3): 210-215. DOI:
  • Abstract ( 972 ) PDF (1343KB)( 1664 )
  • Objective To analyze the potential mechanisms of Down's syndrome (DS) with cerebral infarction by reporting a case of Down's syndrome (DS) combined with recurrent cerebral infarction, hashimoto thyrotoxicosis. Methods The diagnosis and treatments of a 10-years old girl with DS,Hashimoto thyrotoxicosis (HTT) and recurrent cerebral infarction were reported in detail. Clinical features of similar cases from published literatures were summarized. All literatures were retrieved systematically. Results A 10-years-old girl with DS(47,XX,+21) was admitted to our hospital due to weight loss, fatigue and sweating for 4 months. She was diagnosed as HTT due to obviously increased TPOAb, normal TRAb and depressed TSH. Test results were positive for anti-double-stranded DNA, anti-histone antibody, MPO and PR3. She then received antithyroid therapy and recovered. Two months after discharging from the hospital, she developed left and right sidecerebral infarction two times without obvious predisposing cause. She then accepted rehabilitation, anticoagulation and immunosuppressive therapy and myodynamia was recovered around three weeks later. Her general status kept stable more than one year before the current follow up. Nineteen related literatures concerning DS with cerebral infarction from web of science, pubmed, cnki and wanfang database were searched and seventeen of them were summarized. Infection occurred in 41.2% patients, moyamoya in 52.9%, thyroid dysfunction in 23.5% and 47.1% patients were found to have positive autoantibodies, however they had better prognosis in general. Conclusion Child with DS, cerebral infarction and HTT is extremely rare and autoimmunity disease in elder DS should be concerned.

  • A novel CHD8 gene mutation in a patient with autism spectrum disorder and literature review
  • ZHENG Qing-wen, ZHAN Guo-dong, TANG Chun, BI Xin, ZHAO Wei-wei, ZOU Xiao-bing
  • 2015 Vol. 10 (3): 216-221. DOI:
  • Abstract ( 1503 ) PDF (2653KB)( 2262 )
  • Objective To draw attention to the phenotype and genotype of patients with autism spectrum disorders (ASD) carrying CHD8 mutation. Methods The clinical data of one patient with ASD carrying CHD8 mutation, including clinical manifestations, laboratory findings, genetic testing results and family investigation were summarized and analyzed, and relevant literatures about CHD8 mutation were reviewed in this article. Results ①The 3-year-and-3-month boy was presented with macrocephaly (head circumference was 55.0 cm, Z>4 s), overgrowth (height was 107.0 cm,Z>2 s; weight was 23.5 kg, Z>2 s) and typical autistic behavior as well as significant motor delay and gastrointestinal(GI) problems (chronic constipation). No additional patient was found in his family. ②Targeting 4 813 genes associated with known clinical phenotypes, a total of 8 982 variances were found in the patient via next-generation high-throughput DNA sequencing. Missense mutations of autism-related genes EHMT1, PCDH9, NLGN4X and nonsense mutation of CHD8 [c.307C>T, p.Gln103*(NM_020920.3)] were probably pathogenic after filtering unrelated variances. EHMT1, PCDH9 mutations were identified in his father and NLGN4X mutation in his mother, but CHD8 mutation was not identified in his parents via Sanger sequencing. ③To date a total of 15 independent CHD8 mutations associated with neurodevelopmental disorders has been reported worldwide. Common phenotypic features of patients with CHD8 disruptions include autism(87%), overgrowth(86%), macrocephaly(80%), GI complaints(80%), motor delay(67%, especially fine motor coordination) and sleep problems(67%). Conclusion The mutation of CHD8 is an important risk factor of ASD. ASD patients with macrocephaly, overgrowth and GI problems should be considered as carrying CHD8 mutation and genetic testing is recommended to confirm the diagnosis.

  • A multi-centeric cross-sectional study on children with abnormal sweating in Shanghai
  • MA Jing, JIANG Zhi-yan, JIANG Yong-hong, XUE Zhen, ZHAO Jun,CHEN Wei-bin, WU Min,WU Wen,LI Wen,YE Fei
  • 2015 Vol. 10 (3): 222-226. DOI:
  • Abstract ( 717 ) PDF (725KB)( 1646 )
  • Objective To discuss the influencial factors to different syndrome type of pediatric abnormal sweating in Shanghai. Methods Children between 2 and 13 years old from 5 hospitals in Shanghai of TCM pediatrics department in line with the sweat disease was performed to diagnose 5 TCM syndromes(dysfunction of lung-wei pattern, nutrient qi and defensive qi discordance, qi and yin deficiency pattern, dampness heat forced steamed pattern, qi and yang deficiency pattern) were recruied. Questionnaire was conducted on the patient's personal history, the major clinical manifestations of sweat and dietary habits was surveyed. The patients were divided into 3 groups(2-5 years old,-9 years old,-13 years old), and analyzed with Logistic regression analysis on the influencial factors of each type. Results There were 171 cases of males within 313 cases (54.6%) with children's sweat diseases,collected from May 2013 to March 2014. ①There were 32 cases(32/100) of qi and yang deficiency pattern in 2-5 years old group; 60 cases(60/160) of dysfunction of lung-wei pattern in -9 years old group;19 cases(19/53)of dampness heat forced steamed pattern in -13 years old group. ②Logistic regression analysis on the influencial factors of each type showed that preterm was the risk factor to children abnormal sweating of dysfunction of lung-wei pattern and qi and yang deficiency pattern, OR(95%CI) was 2.092(1.074-4.073) and 1.636(1.086-2.464),respectively (P<0.05). ③Statistical significances were found in the time of sweating and major position of sweating in dysfunction of lung-wei pattern,OR(95%CI) was 3.212(1.067-9.665) and 4.182(1.280-8.405),which occurred in the daytime and neck. The major position of sweating was meaningful in type of nutrient qi and defensive qi discordance(OR was 4.310, 95%CI:1.296-14.331),which occurred in breast and palm of hand and foot. Statistical significances were also found in the time of sweating and major position of sweating in qi and yin deficiency pattern, OR(95%CI) was 7.799(1.050-57.921) and 4.978(1.086-7.414),which occurred in the palm of hand and foot and night. The major position of sweating and eating habits came to light in dampness heat forced steamed pattern, OR(95%CI) was 9.925(1.106-14.366) and 2.590(1.029-6.522), sweating occurred in elbow and dysphasia groin, seafood and oil fried food were the risk factors; Season, the time of sweating and position were meaningful in type of qi and yang deficiency, winter was the epidemical one, sweating usually occurred in the daytime and nape and back. Conclusion Each influencial factor correlates with disease and syndrome in pediatric abnormal sweating diseases.

  • Changes and significances of inducible IL-35 producing regulatory T cells in childhood B-cell precursor acute lymphoblastic leukemia
  • WANG Li-hong, WANG Guo-bing, WEN Fei-qiu, LIU Si-xi, WANG Ying, LI Chang-gang
  • 2015 Vol. 10 (3): 227-231. DOI:
  • Abstract ( 780 ) PDF (1121KB)( 1714 )
  • Objective To investigate the changes and significances of inducible IL-35 producing regulatory T cells(iTR35) in childhood B-cell precursor acute lymphocytic leukemia (BCP-ALL). Methods Children with BCP-ALL were enrolled at the Department of Hematology Oncology, Shenzhen Children's Hospital from July 2012 to December 2013, and sub-grouped as standard risk, intermediate risk or high risk. Age-matched healthy children who attending routine physical examination were recruited as controls during the same study period. CD4+T cells were isolated from peripheral blood mononuclear cells by microbeads. Flow cytometry was performed to evaluate the proportions of CD4+FOXP3-IL-10- TGF-β-IL-12p35+IL-27EBI3+ iTR35 and CD4+CD25highFOXP3+ Treg, and expression levels of associated molecules such as IL-12p35, IL-27EBI3, pSTAT1 and pSTAT4. Transcription levels of IL-12Rβ2 and gp130 in CD4+T cells were determined by quantitative real-time PCR. Plasma concentrations of IL-35 and IL-10 were measured by enzyme-linked immunosorbent assay. Results ①Forty-eight children with BCP-ALL, including 11 children with HR, 21 children with IR and 16 children with SR, aged from 2.3 to 11 years with a mean of 5.2 years were recruited. The BCP-ALL group consisted of 29 males and 19 females, and 32 age-matched healthy children with 21 males were used as controls. No difference of age or sex was found between the two groups (P>0.05). ②The proportions of iTR35 in BCP-ALL group were much higher in the case group than those of control group(P<0.05), and the expressions of IL-12p35 and IL-27EBI3 increased remarkably (P<0.05). ③The proportions of Treg and the expression levels of IL-12p35 and IL-27EBI3 were elevated in BCP-ALL group(P<0.05). Meanwhile, plasma concentrations of IL-35 and IL-10 increased significantly in BCP-ALL group(P<0.05), Plasma concentrations of IL-35 positively correlated with the proportion of iTR35 and the expression levels of IL-12p35 and IL-27EBI3, respectively. Additionally, expression levels of IL-35-signaling downstream molecules (IL-12Rβ2, gp130, pSTAT1 and pSTAT4) in CD4+T cells were significantly up-regulated in BCP-ALL group(P<0.05). ④Plasma IL-35 concentrations and the proportions of iTR35 in BCP-ALL children with high risk or intermediate risk groups were found to be higher than those in BCP-ALL children of standard risk group (P value was <0.001 and 0.002, respectively). No statistic significant differences were found in the two former group, although plasma IL-35 concentrations and the proportions of iTR35 in BCP-ALL children of high-risk group were higher than those in BCP-ALL children with intermediate risk group (P>0.05). Conclusion Excessive activation and dysfunction of iTR35 maybe one of the important factors contributing to immunological dysfunction in children with BCP-ALL.

  • Exploration of the blood pressure type in orthostatic hypertensive children
  • LIU De-yu,WANG Shuo,XIANG Ji-bing,LIN Ping,RAN Jing,WU Li-jia,LI Fang,ZOU Run-mei,WANG Cheng
  • 2015 Vol. 10 (3): 232-235. DOI:
  • Abstract ( 706 ) PDF (719KB)( 1660 )
  • Objective Retrospectively analyze the blood pressure type in orthostatic hypertensive (OHT) children with 24h ambulatory blood pressure monitoring (ABPM). Methods Choosing 40 children treated or hospitalized in the syncope department of the Second Xiangya Hospital of Central South University mainly for syncope or pre-syncope with unknown causes during September, 2009 to September, 2013 who were diagnosed by head-up tilt table test (HUTT) as OHT patients (OHT group). In the group, there were 23 boys 17 girls, aging (11.48±1.92) years old. Matching 40 healthy children that came to the hospital for physical examination in the same time period according to age and sex (control group), among which there were 22 boys and 18 girls, ageing (10.60±2.38) years old. Record the ABPM of every child. Result (1) Comparasion of ABPM Parameters: the difference of daytime systolic pressure and night systolic pressure of the control group was higher than that of OHT group [(9.84±3.26) vs (8.37±4.66),t=1.638,P<0.05], while the average systolic pressure of the whole day, the average diastolic pressure of the whole day, the daytime average systolic pressure, the daytime average diastolic pressure, the night average systolic pressure and the night average diastolic pressure were a little higher than that of the control group (P>0.05). The difference of daytime diastolic pressure and night diastolic pressure of the control group was a little higher than that of OHT group(P>0.05). (2)Blood pressure type: most children of the OTH group had “non-dipper blood pressure type” [29/40(72.5%) vs. 11/40(27.5%)], while most children of the control group had “dipper blood pressure type” [22/40(55.0%) vs. 18/40(45.0%)]. The difference of the two groups has a statistical significance (?2=6.600,P<0.05). Conclusion There is no significant difference in the ambulatory blood pressures between OHT children and healthy children, but the difference of daytime systolic pressure and night systolic pressure of the OHT group reduce significantly and it’s main blood pressure type is “non-dipper blood pressure type”.

  • Histone H3K27 acetylation and H3S28 phosphorylation alter gene expressions in heart development
  • LIN Yi-xiang,XU Jun, GU Ruo-yi, CAO Yin-yin,LIU Si-da,LI Shuo-lin,WANG Hui-jun,HUANG Guo-ying
  • 2015 Vol. 10 (3): 236-240. DOI:
  • Abstract ( 892 ) PDF (1194KB)( 1786 )
  • Objective  To study the possible relationship between histone H3K27 acetylation and S28 phosphorylation and its role in the pathogenesis in congenital heart disease (CHD) by changing the global modification stage of histone H3K27 and H3S28 residual in culture cells and detecting heart relating genes expressions.
    Methods  C2C12 cell was treated with sodium butyrate (NaB), curcumin and TPA. Western Blot was performed to determine the global H3K27 and H3S28 modification stage. Realtime-PCR was performed to examine heart relating genes expressions. NaB and curcumin concentration ladders were performed in culture cells and same test was taken to examine histone modification and relative gene expression. Pearson's relative analysis was taken to reveal the relationship between histone modification stage and gene expressions.
    Results  In NaB treated group, H3K27ac was significant higher than controls[(1.90±0.04) vs (1.09±0.01), P <0.05)] while H3S28ph was lower[(0.04±0.01) vs (0.73±0.01), P<0.05)]. H3K27ac decreased in curcumin group[(0.04±0.00) vs (1.09±0.01), P<0.05)] while an increase in H3S28ph [(0.97±0.06) vs (0.73±0.01), P<0.05)]. Both H3K27ac (1.58±0.03) and H3S28ph (1.67±0.00) were significantly higher than controls (P<0.05). The residual modifications were highly related to the concentration of treatments(R2 was 0.993 and 0.966). Most of the examed genes responded to the treatments and had at least one significant expression change. cTnT, Cx43 and Six1 gene were found a positive relation to S28ph(R2 was 0.707, 0.713 and 0.651) and negative to K27ac(R2 was 0.866, 0.822 and 0.766) while treated with different concentrations of NaB but no similar results was found in curcumin group (R2<0.5).
    Conclusion  Histone H3K27ac and H3S28ph may interact with each other in some way, the global histone modification stage change could affect heart related gene expression, which could be a potential pathogenesis of CHD.