Journal of Clinical Pediatrics

Polymorphism in signal transducer and activator of transcription 3 (STAT3) gene and susceptibility of epilepsy in children

YUE Xin, ZHAO Peiwei,LIU Zhisheng, WU Gefei,HU Jiasheng,WAN Chunhui,HE Xuelian

. 2016, 34(11): 801. doi:10.3969/j.issn.1000-3606.2016.11.001

Abstract ( 299 )

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Objective To explore the association between two single nucleotide polymorphisms (SNP), rs1053005 and rs744166, in signal transducer and activator of transcription 3 (STAT3) gene and their susceptibility to childhood epilepsy. Methods A case control study was performed, in which 462 children with epilepsy including 121 children with intractable epilepsy were recruited. 493 healthy children were include as control group. PCR-RFLP was performed to investigate the two SNPs’ polymorphism. The relationship between the risk of children epilepsy and different genotypes and allelic genes was compared. Results Statistical differences of SNP rs1053005 genotype frequencies (AA, AG, GG) were found in epilepsy children as compared with control group ( χ2 =9.705, P =0.008). While the frequency of G allele in epilepsy children was obviously lower than that in the control group (OR =0.734, P =0.002, 95%CI: 0.604-0.892). There was no significant differences of SNP rs744166 genotype frequencies and C allele frequencies between epilepsy children and controls (P??＞??0.05). Conclusion SNP rs1053005 of STAT3 gene was associated with the risk of childhood epilepsy.

Prognostic value of somatosensory evoked potentials and brainstem auditory evoked potentials in children with severe disturbance of consciousness

FENG Ying, XIAO Nong, CHEN Yuxia, LIU Ling, JIANG Wei, HOU Xueqin, HUANG Qinrong

. 2016, 34(11): 806. doi:10.3969/j.issn.1000-3606.2016.11.002

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Objectives To explore the dynamic changes of somatosensory evoked potential (SEP) and brainstem auditory evoked potential (BAEP) in children with severe disturbance of consciousness during recovery, and their predictive values for conscious recovery. Methods Fifty-two patients with severe disturbance of consciousness hospitalized during July 2013 to June 2014 were included. Clinical assessment and assessments of SEP and BAEP were finished within 48 h after admission. In the course of 12 months, coming out of minimum state of consciousness or death were the end point for assessment. Results Within one year, there were 27 cases recovered their consciousness among these 52 cases and consciousness recovery rate was 51.2%. No differences in the recovery rate of consciousness in various pathogenesis (P ＞ 0.05). There were 24 cases with stage I in SEP grade on the first time, in which 20 cases recovered consciousness and 4 cases did not recover after one year hospitalization (3 cases remain stage I after reexamination and one case progressed to stage III). There were 28 cases with stage II or stage III in SEP grade on the first time; 3 cases turn stage II to stage I, inwhich 2 cases recovered their consciousness; 2 cases turn stage III to stage I, in which one case fully recovered with consciousness. The other 23 cases remained in stage II or stage III and only 3 patients completely recovered in the one year course. Among 52 cases, 50 cases had normal BAEP, and one case had stage II and one case had stage I. Conclusions SEP can be used to predict consciousness recovery during recovery phase in children with severe disturbance of consciousness. However, BAEP cannot.

Gal-9 changes in serum and cerebrospinal fluid in children with viral encephalitis

WANG Xueyu,WANG Wenjuan,ZHANG Xiufang

. 2016, 34(11): 811. doi:10.3969/j.issn.1000-3606.2016.11.003

Abstract ( 339 )

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Objective To investigate the changes of Galectin-9 (Gal-9) in serum and cerebrospinal fluid in children with viral encephalitis (VE) and to epxplore its potential significance in the diagnosis and prognosis of VE. Methods The levels of Gal-9 in serum and cerebrospinal fluid were detected by enzyme-linked immunosorbent assay double-antibody sandwich and compared in 30children with VE in acute and convalescent phases and in 12 children without VE. Results The differences of Gal-9 levels in serum and cerebrospinal fluid were statistically significant between VE acute phase group and VE recovery phase group as well as control group (F = 92.70, 81.95, P < 0.01). The Gal-9 levels in serum and cerebrospinal fluid of the children in VE acute phase and of the children in VE recovery phase were significantly higher compared to those in the control group (P < 0.01). The levels of Gal-9 in serum and cerebrospinal fluid of children in VE convalescent phase are significantly higher than those in acute phase of VE (P < 0.01). There was a positive correlation between levels of Gal9 in cerebrospinal fluid and in serum (r =0.523, P < 0.01). The levels of SP-D correlated negatively with the total CSF leucocytic count in children of VE (rs= -0.469, P < 0.001). Conclusions Gal-9 played an important role in the later stage of viral encephalitis recovery.

Leukoencephalopathy with vanishing white matter: a report of two cases and literature review

DING Le, GUO Hu, LI Yang, HE Yan, LIANG Chao, JIN Bo, LU Xiaopeng, ZHENG Guo

. 2016, 34(11): 815. doi:10.3969/j.issn.1000-3606.2016.11.004

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Objective To explore the genotype and phenotype of two patients with white matter melting leukoencephalopathy (VWM). Methods Clinical data of two children with VWM diagnosed through genetic test were retrospectively analyzed, with a review of relevant literature. Results Onset age of the two patients were 8 months and 2 years old, respectively. Their psychomotor development were previously normal. They were with poor response after acute fever, and cognition and motor function were progressively regressed. Their cerebrospinal fluid examination was normal. Brain MRI showed symmetry abnormal signal in the hemispheres brain white matter. Genetictest found compound heterogeous mutations in EIF2B5gene in the both cases, and a c. 911_913del mutation caused deletion of 305th amino acid. Conclusions VWM was characterized by previously normal mental and motor development, and later progressive regression after fever, and with poor prognosis. Brain MRI manifestation of the disease was widely symmetry brain white matter involvement, and gradually evolved into the same signal of cerebrospinal fluid. Mutations found in EIF2B can determine the diagnosis of VWM.

NF1 mutation analysis in 8 Chinese patients with neurofibromatosis type 1

LIU Yan, YUAN Yuheng, MA Mingsheng, WANG Wei, QIU Zhengqing

. 2016, 34(11): 819. doi:10.3969/j.issn.1000-3606.2016.11.005

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Objective Neurofibromatosis type (NF) 1 is an autosomal dominant inherited disorder caused by NF1 gene mutation. The characteristics of NF 1 include multiple Café-au-lait spots, neurofibroma, freckling in the axillary or inguinal regions, Optic glioma, Lisch nodules and skeletal abnormalities. We analyzed NF1 gene in 8 cases with multiple Café-aulait spots in order to diagnose and understand clinical heterogeneity of NF1 in children. Methods Eight patients, 5 males and 3 females aged 1- 12 years, were selected from hospital during June 2013 to October 2015. All of them complained of multiple Café-au-lait macules since birth, and two were accompanied by plexiform neurofibromas, one with multiple cutaneous neurofibromas. All parents were non-consanguineous and asymptomatic. Variable Café-au-lait macules were found in 3 parents, one with multiple Café-au-lait spots, and the other two with 1-2 skin lesions. NF1 gene was studied by direct PCR sequencing and followed by MLPA analysis if the sequencing was negative. All patients had no echocardiography and ophthalmic examinations. Results Seven mutations were found in 8 patients, including complete NF1 deletion in 2 cases, 4 deletion mutations (c.4974_4977delCTAT, p.Y1659TfsX17, c.3987_3988delAG, p.S1329fsX4, c.1511delC, p.P504QfsX22 and c.6388delC, p.L2130fsX3), 1 splicing mutation (c.3975-2delA) and 1 nonsense mutation (c.3721C >?T,p.R1241X). The mutations were not found in the peripheral blood of all the parents. All mutations except large deletion and nonsense mutation were not reported. Conclusions Mutations in NF1 gene can cause NF 1. Multiple Café-au-lait macules may be the earliest clinical manifestation of NF1. NF1 gene analysis can be performed to confirm the diagnosis and provide necessary genetic counseling, even though there is no family history and other clinical abnormalities. In this study, there were 7 mutations found in 8 patients,5 of which were not reported, all mutations were de novo.

Fulminant Wilson disease in children: a report of two cases and literature review

ZHANG Ting, PENG Shao, MA Yingying, CHU Weihong, HU Xiaoxia

. 2016, 34(11): 825. doi:10.3969/j.issn.1000-3606.2016.11.006

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Objective To investigate clinical characteristics, early diagnosis and therapy of children with fulminant Wilson disease (FWD). Method The clinical data from two children were retrospectively analyzed. Related articles were reviewed. Results Two female patients with FWD aged 5 and 8 years old, presented with acute jaundice, hemoglobinuria, liver failure, hepatic encephalopathy, renal failure, myocardial injury, organ bleeding, hepatomegaly and K-F ring positive, which were in line with rapid diagnostic criteria. Exons of ATP7B gene were sequenced and a p.P992L, a p.A1063V and a c.2764del9 were found in the two patients. Conclusions Any child present with acute liver injury should be considered the possibility of FWD, which can refer to Wilson index, rapid diagnostic criteria and other data to help diagnose.

The changes of 4 - 1 BB/ 4 - 1 BBL and its clinical significance in children with Henoch-Schönlein purpura nephritis

XUN Xiangqi,FEN Qihua

. 2016, 34(11): 829. doi:10.3969/j.issn.1000-3606.2016.11.007

Abstract ( 354 )

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Objectives To investigate the expression and the clinical significance of costimulatory molecules 4-1BB and 4-1BBL in the peripheral blood mononuclear cell of children with Henoch-Schönlein purpura nephritis (HSPN). Methods Twenty children with incipient HSP were included as one group, 20 children with incipient HSPN as another group (15cases of them with renal pathologic examination), and 20 healthy children as the normal control group. RT-PCR was used to detect the change of 4-1BB/4-1BBLmRNA in PBMC, and to analyze the relationship between the change of 4-1BB/ 4-1BBLmRNA in PBMC of the HSPN group and the pathology of the kidney. Results The expression of 4-1BBmRNA, 4-1BBLmRNA in children with HSPN and HSP were significantly higher than that of the normal control group (P

Transient synovitis of hip and effects of climate change on its prevalence in Chongqing

ZHAO Tianxin, KANG Quan, DONG Zixing, LYU Fengxiang, QIU Chao, LUO Qing

. 2016, 34(11): 834. doi:10.3969/j.issn.1000-3606.2016.11.008

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Objective To investigate the temporal pattern of the occurrence of transient synovitis of hip (TSH) and the correlation between the prevalence and climatic factors in Chongqing, China. Methods A total of 1401 cases of hospitalized children with TSH at Children’s Hospital of Chongqing Medical University between 2008 and 2013 were selected. Related climatic data consisting of air temperature, atmospheric pressure, relative humidity, wind velocity, sunshine duration, and precipitation in Chongqing were collected. Chi-square fitting test and multiple linear regression were used to test the temporal pattern of the occurrence of THS and the correlation between meteorological factors and the prevalence of TSH. Results Incidence of TSH was mainly occurred during spring and summer (P = 0.000), with a peak in March and a trough in October. TSH occurrence was negatively correlated with mean humidity per month (r =-0.466, P=0.000), and positively correlated with mean wind velocity and sum of sunshine per month (P =0.000, P =0.006, P =0.007). Stepwise regression analysis showed that only mean humidity per month fitted into a linear model (R2=0.229, P =0.000). Conclusions From 2008 to 2012, the prevalence of TSH in Chongqing showed seasonal and monthly periodicity. And the occurrence of TSH is correlated with climatic factors, particularly humidity.

Association of IL-13 gene + 2044 G/A polymorphism to the risk of pediatric asthma and its relevancy to serum levels of IL-13

DING Baodong,WANG Mingwei, ZHAO Yuehua,LI Haibo, WEI Shougang

. 2016, 34(11): 838. doi:10.3969/j.issn.1000-3606.2016.11.009

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Objective To investigate the relationship between IL-13 gene + 2044G / A polymorphism to the risk of asthma in children and its relevancy of serum IL-13 levels. Methods Ninty cases of children with bronchial asthma (asthma group) and 82 healthy children (control group) were recruited. PCR-RFLP and ELISA were used to detect IL-13 gene 2044G?＞?A polymorphism and serum IL-13 levels. Genotype, allele frequencies and the corresponding serum IL-13 level were calculated. χ2 test and t-test were used to compare the genotype, allele frequency, and serum IL-13 level between the two groups. Results The distribution of IL-13 gene 2044G?＞?A polymorphism showed significant difference between the two groups. Compared with AA genotype and A allele, children with GG genotype and G allele were associated with an increased risk of bronchial asthma, and the OR value were 3.706 (95%CI:1.059~12.976) (P ＜ 0.001) and 2.525 (95%CI:1.532~4.159) (P ＜ 0.001). The level of serum IL-13 is higher in asthma group than in control group (Z = 7.899, P ＜ 0.001), and the serum IL-13 level of GA and AA in asthma group is higher than that in children with GG genotype (Z = 5.555, P ＜ 0.001; Z = 3.541, P ＜ 0.001; Z = 2.777, P ＜ 0.05). Conclusion There is association between IL-13 2044G?＞?A polymorphism and serum IL-13 level in children' with bronchial asthma. And A allele maybe associated with higher serum IL-13 level in children with asthma.

Status assessment of practice guideline in pediatric recurrent respiratory tract infections

SHEN Chaobin,JIANG Jinjin, CHEN Tongxin

. 2016, 34(11): 842. doi:10.3969/j.issn.1000-3606.2016.11.010

Abstract ( 335 )

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Objectives To identify the guideline practice situation in pediatric recurrent respiratory tract infections （RRTIs） study. Methods From the China National Knowledge Infrastructure (CNKI) (2013-2016), patients with RRTIs were identified by researders. Inclusion and exclusion criteria were based on the guideline definition for each study. Results A total of 1740 patients from 15 study were examined. Most of the researches were not restricted to the age categorization of the RRTIs study and to the etiology variable in the analyses. Although frequent clinical treatment may have beneficial effects on remission of RRTIs patients, it cannot and should not be viewed as an etiologic treatment of RRTIs. Conclusions The current understanding in the diagnosis and management of RRTIs in children needs further discussion.

Correlation between the SP-B exon 4 (T 131 I) and neonatal respiratory distress syndrome in Western Inner Mongolia

HU Yanan, ZHANG Yayu, LIU Chunli, LIU Chunzhi, MEI Hua, WANG Jing, XIN Chun

. 2016, 34(11): 846. doi:10.3969/j.issn.1000-3606.2016.11.011

Abstract ( 328 )

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Objective To explore the relationship between the SP-B exon 4 (T131I) and susceptibility of neonatal respiratory distress syndrome (NRDS) in Western Inner Mongolia. Methods A case control study from September 2009 to February 2016 in the Affiliated Hospital of Inner Mongolia Medical University neonatal ward was performed. Eighty-six preterm infants of Mongol nationality suffered from NRDS were selected as the case group, while eighty-six preterms in the same period without NRDS were selected as the control group. Polymerase chain reaction were used to detect mutations in exon 4 of SP-B, genotype, and allelic distribution of T131I of exon 4, as well. Results Newborns in western Inner Mongolia: ①No mutation was found in SP-B exon 4. ②The frequencies of genotype CC, CT and TT of T131I in the NRDS group were 58.1%、27.9% and 14.0%, respectively. Frequency of allele C were 80.2%, and frequency of allele T were 19.8%. In the control group,?the frequencies of genotype CC, CT and TT were 40.7%、43.0% and 16.3%, respectively. Frequency of allele C were 64.0%, and frequency of allele T were 36.0%, there was significant difference in the frequencies of SP-B exon 4 T131I sites between these two groups (P < 0.05). Conclusion There was no mutation found in SP-B exon 4. Exon 4 (T131I) gene polymorphism of SP-B gene may be one of the susceptible locus of Mongolian infants in the western region of Inner Mongolia.

Crigler-Najjar syndrome type I: a case report

LIU Yanling,ZHANG Qiaoli

. 2016, 34(11): 850. doi:10.3969/j.issn.1000-3606.2016.11.012

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Objective To explore the etiology, diagnosis, and treatment of Crigler-Najjar syndrome. Methods Clinical data of one pediatric patient with Crigler-Najjar syndrome was retrospectively analyzed. Results A 3-month-old boy was hospitalized for jaundice. His serum total bilirubin fluctuated between 450.1~479.3 μmol/L with majority being non-conjugated bilirubin. The phototherapy effect was poor. He was clinically highly suspected of Crigler-Najjar syndrome type I. Detection of locus mutation in Exon1 of uridine diphosphoglucuronyl transferase (UGT) 1A1 gene further confirmed Crigler-Najjar syndrome type I. Patient died in liver transplantation. Conclusions Crigler-Najjar syndrome is a type of genetic disorder of bilirubin metabolism and is caused by mutation in UTG1A1 gene leading to the complete or partial loss of its enzymatic activity. The diagnosis is mainly based on clinical features, laboratory examinations, and UGT1A1 gene detection. It can be cured by liver transplantation. Gene therapy is an ideal method for the ultimate cure.

Clinical characteristics of septicemia with positive blood cultures episodes in pediatric acute lymphoblastic leukemia patients after chemotherapy

ZHANG Xiaoxiao, GUAN Xianmin, XIAN Ying, XIAO Jianwen, WEN Xianhao, GUO Yuxia, SU Yongchun, DOU Ying, LI Ying, SHEN Yali, MENG Yan, YU Jie

. 2016, 34(11): 853. doi:10.3969/j.issn.1000-3606.2016.11.013

Abstract ( 329 )

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Objectives To investigate the pathogen and clinical features in the pediatric acute lymphoblastic leukemia(ALL) patients with septicemia with positive blood cultures episodes. Methods A total of 145septicemia with positive blood cultures episodes in 112 of 545 pediatric ALL patients since April, 2008 to December, 2014 were included. And the clinical manifestations, morbidity, timing of septicemia, site of infection, pathogen characteristics, drug susceptibility rates, related factors for septicemia, treatment and outcomes were retrospectively analyzed. Results The morbidity of 545 pediatric ALL patientwith septicemia was 20.55%. The septicemia onset was mostly during the induction course in chemotherapy in the Standard risk and Intermediate risk ALL groups, and the consolidation course in chemotherapy in the high risk ALL groups. The infection were the most commonly seen inrespiratory tract and gastrointestinal tract. Among 149 strains of pathogens isolated from the patients, Gram-positive bacteria contribute the 51.68% (77/149) strains while 70 strains (47.98%) were Gram-negative bacteria. The incidence rate of septicemia was significantly increased in the patients of High risk ALL groups, central venous catheter, the neutrophil count below 0.1×109/L and the duration of neutropenia more than 7 days (P

Hereditary spherocytosis accompanied with G 6 PD deficiency: a case report and literature review

MA Shiyue, LIN Faquan

. 2016, 34(11): 857. doi:10.3969/j.issn.1000-3606.2016.11.014

Abstract ( 321 )

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Objective To discuss the clinical features, pathogenesis and diagnostic experience of hereditary spherocytosis (HS) accompanied with glucose-6-phosphate dehydrgenase deficiency (G6PD) deficiency. Methods Clinical features and diagnose of a 5-year-old case with HS accompanied with G6PD deficiency were analyzed, and realated literatures reviewed. Results The case was a 5-year-old boy referred to a hospital because of pallor and jaundice. Laboratory test results were as follows: red blood cell count 2.65×1012/ L, hemoglobin 70.50 g/L, mean corpuscular volume 78.61 fl, and mean sphered corpuscular volume 66.26 fl, reticulocyte ratio 18%; G6PD activity was 1.38 NBT. The peripheral red blood cells were of different sizes and mature, and spherocytes were observed. SDS-polyacrylamide gel electrophoresis and western blot shows the band 3 was partially deletion. Molecular analysis revealed the band 3 deficiency was caused by two mutations: one was a missensemutation c.113A >?C, and the other was a intron mutation c.349+27C >?T. A diagnosis of HS accompanied with G6PD deficiency was therefore arrived. Conclusions HS accompanied with G6PD deficiency is a relatively uncommon phenomenon and might lead to misdiagnosis. Blood smear staining, thalassemia screening, mean sphered corpuscular volume and other laboratory detections could improve the accuracy of diagnosis.

Research progress of calcium channels in the pathogenesis of pulmonary arterial hypertension

HUANG Zixu

. 2016, 34(11): 861. doi:10.3969/j.issn.1000-3606.2016.11.015

Abstract ( 200 )

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Pulmonary arterial hypertension (PAH) is a group of severe and progressive diseases, and eventually leading to right heart failure even death. Pulmonary vasoconstriction, Pulmonary vascular remodeling , thrombosis, and vascular stiffness are the major causes for PAH. Numerous studies have shown that Ca2+ signal plays indispensable role in maintaining vascular tension and the regulation of vascular smooth muscle cell proliferation and apoptosis, and these processes are mainly mediated by calcium channels. This paper will focus on the advances of calcium channels in the pathogenesis of pulmonary arterial hypertension.

Progress of early diagnosis and treatment in fulminant myocarditis in children

XIA Yuanyuan

. 2016, 34(11): 866. doi:10.3969/j.issn.1000-3606.2016.11.016

Abstract ( 382 )

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Fulminant myocarditis a kind of myocarditis with rapid hemodynamic compromise, diverse clinical manifestations and high mortality. Early diagnosis needs a comprehensive analysis of serum biomarkers,?electrocardiogram, and echocardiography, etc. Cardiac MRI has become a useful tool for the diagnosis of myocarditis. Traditional treatment mainly includes supportive regime to release symptoms, antiviral treatment, and immunotherapy, which may not be effective in some critical patients. With the help of extracorporeal membrane oxygenation (ECMO), survival rate in children with fulminant myocarditis is greatly improved. Thus, ECMO becomes an effective means in children with fulminant myocarditis. This article aims to review the progress of diagnosis and the latest treatment of fulminant myocarditis in children.

Research progress of vascular endothelial growth factor in the development of bronchopulmonary dysplasia

LIN Yufang

. 2016, 34(11): 871. doi:10.3969/j.issn.1000-3606.2016.11.017

Abstract ( 298 )

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Bronchopulmonary dysplasia (BPD) is a common chronic respiratory disease in premature infants. The “new BPD”, characterized by impaired alveolar development and abnormal blood vessel growth, has a trend of increasing year by year. Pulmonary vascular growth is the key to the development of the lung. Vascular endothelial growth factor, as a core factor in the occurrence of angiogenesis, has some link with the occurrence of BPD. Studies showed that the expression level of vascular endothelial growth factor in premature infants and the animals of BPD model induced by high oxygen can be decreased at different time points in different degrees compared with the control group; Inhibition of animal blood vessel development can lead to a decrease in the number of pulmonary vessels, and a decrease of the radial alveolar count appears as the “new BPD”;It has been found that with the intervention of virus mediated gene therapy or intramuscular injection, exogenous VEGF worked in the BPD animal model, contributing to the development of pulmonary vessels and increased radial alveolar count, but VEGF overexpression led to pulmonary edema, pulmonary hemorrhage and other adverse events. The aim of this review is to elucidate the expression of VEGF protein in BPD and BPD model animals, and its progress in the treatment of animals with BPD.

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