Table of Content

15 May 2016 Volume 34 Issue 5

  

Study on clinical prognosis among ETV6/RUNX1 positive childhood B-precursor acute lymphocyte leukemia

WANG Xingwei, LI Benshang, SHEN Shuhong, CHEN Jing, TANG Jingyan

. 2016, 34(5):  321.  doi:10.3969 j.issn.1000-3606.2016.05.001

Abstract ( 559 )   PDF (1255KB) ( 2179 )  

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Objective To investigate the incidence of the ETV6/RUNX1 fusion gene among Chinese pediatric patients with B-ALL and its effect on the prognosis. Methods A total of 723 patients with B-ALL from January 1, 2007 to December 31, 2014 were enrolled in this study. All patients were detected ETV6/RUNX1 fusion gene by FISH. Clinical data and ETV6/RUNX1 were combined to analyze the clinical prognosis. Results Among the 723 patients, 151 were with ETV6/RUNX1 positive B-ALL, accounting for approximately 20.89% (151/723) of B-precursor cases; 91 patients were with recurrence, including 10 patients with ETV6/RUNX1 positive B-ALL, and the recurrence rate of ETV6/RUNX1 positive B-ALL was 10.99% (10/91). Among 10 recurrent patients with ETV6/RUNX1 positive B-ALL, 9 patients relapsed more than 300 days later after diagnosis, while the recurrence times among the patients with ETV6/RUNX1 negative was very different. Although the recurrence times between the two groups showed no significant difference (P = 0.09), the recurrence times of ETV6/RUNX1 positive patients were mainly found at the end of clinical chemotherapy, while the recurrence time of ETV6/RUNX1 negative patients were mainly at maintaining chemotherapy period, there was a significant difference between the distribution of recurrence time (P < 0.0001). Conclusions ETV6/RUNX1 fusion gene is a favorable predictor of outcome in Chinese pediatric B-ALL as well.

Evaluation of clinical features in predicting relapse of childhood acute lymphoblastic leukemia treated with CCLG-2008 protocol

YUAN Jing, HU Shaoyan, CHAI Yihuan, HE Hailong, LU Jun, WANG Yi

. 2016, 34(5):  326.  doi:10.3969 j.issn.1000-3606.2016.05.002

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Objective To evaluate the prognostic factors in predicting relapse of childhood acute lymphoblastic leukemia (ALL) treated with CCLG-2008 protocol. Methods From December 1st 2008 and December 31st 2012, 358 patients diagnosed with ALL and treated with the CCLG- ALL 2008 protocol were enrolled in this study. All patients were followed up until September 1st, 2015. Prognostic impact of clinical features, response to treatment, biological features were analyzed and multivariate analysis of predicted value was performed by Cox- regression analysis. Results After treatment of CCLGALL 2008 protocol, 79 patients suffered from relapse. The relapse rate in the standard-risk, intermediate-risk and the high-risk groups were 13.3%, 17.6%, and 41.3% , respectively (P < 0.05). The number of very early relapse, early relapse and late relapse were 25, 29, 25, respectively, accounting for 31.6 %, 36.7 %, and 31.6 %. The relapse rates in patients in B-ALL with initial leukocyte counts >100×10⁹/L, non-remission in 15th day of induction (M3), the level of minimal residual disease (MRD) on 12w (12w-MRD) >10^-4 were significantly higher, their corresponding hazard ratio were 3.17 (1.58 ~ 6.36), 1.87 (1.07 ~ 3.30), and 1.90 (1.12 ~ 3.20), respectively (P < 0.05). Conclusions After treatment with the CCLG-ALL 2008 protocol, a relatively high relapse rate is observed in children with high-risk ALL. High initial leukocyte counts, non-remission in D15-BM and 12w-MRD >10^-4 were the independent prognostic factors for childhood B-ALL.

Pediatric inherited cancer predisposition syndromes and TP53 germ-line mutation

TANG Yuejia, GAO Yijin

. 2016, 34(5):  333.  doi:10.3969 j.issn.1000-3606.2016.05.004

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Pediatric inherited cancer predisposition syndromes are a group of diseases caused by germ-line mutation of cancer related genes. The patients are susceptible to cancers. TP53 germ-line mutation is the most commonly seen mutant gene in cancers that accounts for 20%-30% of all germ-line mutations of inherited cancers. TP53 gene mutation screening could help clinicians to better manage the patients and their family members.

Improvement of life quality of children with atopic dermatitis by therapeutic patient education

ZHANG Zhen, LIU Xiaoyi, CHENG Ying, HE Huan, WU Jian, CHEN Ji

. 2016, 34(5):  338.  doi:10.3969 j.issn.1000-3606.2016.05.005

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Objective To evaluate the effect of therapeutic patient education on improving life quality of children with atopic dermatitis (AD). Methods A total of 109 children with AD were enrolled, including 53 patients in the intervention group and 56 patients in the control group. The intervention group was given therapeutic patient education in addition to routine treatment, while the control group was given routine treatment without therapeutic patient education. After three months two groups were compared with the disease severity and quality of life in children and their families. Results Compared with control group, the intervention group had significant improvements in severity of AD (P = 0.003) and also significant improvements in quality of life (IDQOL and CDLQI) (P = 0.004). The family life quality (DFI) of the two groups were both improved, but the difference was not significant (P = 0.492). Conclusions Therapeutic patient education can improve symptoms of atopic dermatitis, and the quality of life of children as well.

Mixed infection of bacteria and viruses in community-acquired pneumonia in children

WANG Yinghong, CAO Xiaocai, SONG Wentao, LI Zhenzhen

. 2016, 34(5):  342.  doi:10.3969 j.issn.1000-3606.2016.05.006

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Objective To explore the mixed infection of bacteria and viruses of community-acquired pneumonia (CAP) in children. Methods A total of 204 children with CAP were tested for sputum bacteria, viruses and atypical pathogen, and children with bronchoscope indications were performed with bronchoscope for alveolar lavage (BAL), and the BAL fluid (BALF) was subjected to quantitative culture and intracellular bacteria detection. All the children were given antimicrobial sequential therapy. Results There were 153 strains of pathogenic bacteria isolated in 122 cases, the detection rate was 59.80% (122/204). Thirty cases were found with mixed bacterial and viral infections. BAL was performed on 70 cases, positive lavage germiculture were detected in 8 cases, of theses BALF specimen inducible co-stimulator (ICOS) positivity were found in 5 cases. Using BALF quantitative culture as control, the sensitivity of ICOS in the diagnosis of CAP was 37.50% and the specificity was 96.77%. In 30 cases of mixed infection with bacteria and viruses, 27 cases were younger than 5 years old, accounting for 90.00%. Duration of fever greater than 10 d in mixed infection group of children (43.33%, 13/30) was higher than that of the non-mixed infection group (23.12%, 40/173) (P < 0.05), and patients in mixed infection group are more likely to have pleural effusion, and a large patch of shade on imaging. White blood cell levels, CRP and BALF neutrophil granulocyte ratio in mixed infection group were  significantly higher than that of non-mixed infection group (P < 0.05), and the ratio of neutrophils is lower than that of the nonmixed infection group (P < 0.05). After treatment, all the children were improved, and contents of CRP and IL - 6 in both groups were lower than that prior to treatment (P < 0.05), the comparison between groups showed no significant difference (P > 0.05). Average hospitalization time in children with mixed infection (13.5+1.5) d was higher than that with non-mixed infection (8.6+1.1) d (P < 0.05). Conclusions Childhood CAP with mixed bacteria and virus infection can prolong the duration of fever and the length of hospital stay, and increased risk of complications. In addition, the imaging manifestations and laboratory features showed differences from the group of mixed infection, while clinical manifestations, treatment and prognosis were not significantly different from the group with non-mixed infection.

Analysis of pathogen in bronchoalveolar lavage fluid and its clinical features in 80 children with lobar pneumonia

. 2016, 34(5):  348.  doi:10.3969 j.issn.1000-3606.2016.05.007

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Objective To investigate the pathogenic types and clinical features of children with lobar pneumonia. Methods Eighty children with lobar pneumonia diagnosed from April 2013 to May 2015 were enrolled. Bronchoalveolar lavage fluid (BALF) of patients were collected. FQ-PCR was used to detect and analyze pathogens in BALF. Results In 80 cases, 59 cases  were Mycoplasma pneumoniae, and 2 cases were Chlamydia pneumoniae, 12 cases were Streptococcus pneumoniae, 1 case was Klebsiella pneumoniae, 8 cases were adenovirus, 1 case was respiratory syncytial virus, 14 cases were of mixed infection. The prevalence of MP lobar pneumonia in children of 7-14 years old age group were higher than that of other age groups. Conclusions The pathogen of children with lobar pneumonia varied from Mycoplasma pneumoniae, Chlamydia pneumoniae, bacteria, virus and so on, and Mycoplasma pneumoniae was the common pathogen in lobar pneumonia.

Paroxysmal sympathetic hyperactivity in a child with tuberculous meningitis: a case study

XU Yongsheng, WAN Liya, NING Jing, GUO Wei

. 2016, 34(5):  351.  doi:10.3969 j.issn.1000-3606.2016.05.008

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Objective To report secondary paroxysmal sympathetic hyperactivity in a patient with tuberculous meningitis and to review the diagnostic criteria, clinical features, possible pathogenesis and management of this condition. Methods The clinical data of a case with paroxysmal sympathetic hyperactivity secondary to tuberculous meningitis was retrospectively analyzed and related literature was reviewed. Results A 1-year-old boy was admitted to our institute with a history of lethargy and vomiting for 3 days. Neurological examination revealed abnormalities. A lumbar puncture revealed the evidence of meningitis. PPD test, T-SPOT.TB and radiological examination revealed tuberculous meningitis. Later, when stayed in the intensive care unit, he developed paroxysmal hypertension, sinus tachycardia, tachypnea, dystonia, and high fever. These episodes improved after administration of propranolol, benzodiazepines and artane. Conclusions Paroxysmal sympathetic hyperactivity is a rare manifestation of tuberculous meningitis, early recognition is very important for avoid misdiagnosis and overtreatment.

A case report of paroxysmal kinesigenic dyskinesia and literature review

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

. 2016, 34(5):  354.  doi:10.3969 j.issn.1000-3606.2016.05.009

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Objective To investigate the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and the mutation features of its pathogenic gene proline-rich transmenbrane protein 2 (PRRT2). Method The clinical manifestations and genetic tests of one case of PKD were retrospectively analyzed, and the related literatures were reviewed. Results A 10 year and 9 month male patient was recruited. The age of dyskinesias onset was 7 year and 6 month. The descriptions of the attacks were abnormal involuntary movements which were induced by sudden voluntary movements and presented with dystonia. The frequency of the attacks was three to five times per day with the duration lasting ten to twenty seconds, and there is no loss of consciousness. Treatment with oxcarbazepine is effective. A heterozygous mutation in PRRT2 gene, c.649_650insC (p.217fs224X), was found by genetic testing, and the mutation was inherited from the patient’s mother who showed no symptom of PKD. Conclusion The onset age of PKD could be in the childhood and adolescence. The attack is provoked by sudden movements and the duration time is short. Treatment with antiepileptic drug is effective. The test of PRRT2 gene may help diagnosis. Mutation c.649_650insC is the hotspot mutation of the gene.

Analysis of intervals of pulse oximetry in congenital heart disease screening

JIA Anqi, WU Junhua, GUO Anying, QIU Haiyan

. 2016, 34(5):  357.  doi:10.3969 j.issn.1000-3606.2016.05.010

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Objective To explore the best time period of pulse oximetry in congenital heart disease (CHD) screening. Methods Totally 5433 newborns delivered or treated in Ningbo Women and Children’s hospital were enrolled in the study. Cardiac color ultrasound was used to arrive diagnosis and every screening time period (0 ~ 24 h、24 h ~ 48 h、48 h ~ 72 h) was analysed. Results Among the three time periods: the sensibility was in the range of 54.72% ~ 67.92%, specificity was 99.11% ~ 99.61%, false negative rate was 32.08% ~ 43.40%, false positive rate was 0.39% ~ 0.89%, Youden index was 0.54 ~ 0.68, coincidence rate was 98.67 ~ 99.30, and kappa was 0.44 ~ 0.65. Conclusion The best screening time is the period between 48h and 72 h after birth.

One case of chromosome 4q21/22 deletion syndrome

YANG Ning, ZHANG Zhiling, WANG Xingang, GAO Yanling

. 2016, 34(5):  360.  doi:10.3969 j.issn.1000-3606.2016.05.011

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Objective To enhance the understanding of clinical characteristics and genetic testing of chromosome 4q21/q22 deletion syndrome. Methods Chromosomal microarray analysis was used to detect genetic change in a child with special facial appearance and development delay. Results A 15.26-Mb deletion containing 76 geinges in chromosome 4q21.21q22.2 was identified. Thus, this girl was diagnosed as chromosome 4q21/q22 deletion syndrome. Conclusions Chromosome 4q21/q22 deletion syndrome has varied clinical manifestations including typical characteristics (such as absolute or relative macrocephaly, megalencephaly with a characteristic head shape and facial appearance, profound hypotonia, small hands and feet, short limbs, feeding difficulties), mental retardation/severe developmental delay, and other system abnormalities ( such as congenital heart disease, seizure, kidney cysts, etc). The diagnosis of chromosome 4q21/q22 deletion syndrome relies on chromosomal microarray analysis.

A case report of enzyme replacement therapy for glycogen storage disease type Ⅱ

GE Shenghua, WANG Shuang

. 2016, 34(5):  363.  doi:10.3969 j.issn.1000-3606.2016.05.012

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Objective To study the clinical characteristics and the effect of enzyme replacement therapy for late-onset glycogen storage disease type Ⅱ(GSDⅡ ). Methods The clinical, laboratory data and the result of genetic testing were retrospectively analyzed in a GSD Ⅱ child, the effect of enzyme replacement therapy was followed up and the relevant literature was reviewed. Results The patient had motor regression after 1 year old, the serum creatine kinase level is from 675 to 1286 U/L. The EMG test showed myopathic change, acid alpha-glucosidase activity is 12.0 nmol/(g·min), next generation sequencing of genetic muscle diseases panel found the GAA compound heterozygous mutations, both were tiny variations, and muscle biopsies showed the typical pathological features of GSD. The patient was given human recombinant of alpha glucoside enzyme 20 mg per kilogram of body weight, once every other week for 1 year. The weakness of the patient’s muscle strength had no obvious aggravation. Conclusions Early and adequate enzyme replacement therapy is the only possible treatment for GSDⅡ .

Effect of erythropoietin on expression of MMP-2 in hippocampus of neonatal rats with hypoxic-ischemic brain damage

YIN Jie, CHEN Rong, XIAO Dongfan

. 2016, 34(5):  366.  doi:10.3969 j.issn.1000-3606.2016.05.013

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Objective To investigate the effect of erythropoietin (EPO) on the expression of MMP-2 in hippocampus of neonatal rats after hypoxic-ischemic brain damage (HIBD), and the mechanism of its neuroprotective effect. Methods Neonatal Sprague-Dawley rats of 7 days old were randomly divided into three groups (n = 48 in each group): sham-operated group, HIBD group and EPO treated group, then each group was further divided into four subgroups (n = 12) based on different time points following the injection of medication ( 6 h, 24 h, 3 d, 7 d). The expression of MMP-2 in hippocampus was determined by immunohistochemistry and real-time fluorescent quantitative PCR method. Results Immunohistochemistry: MMP-2 has a small amount of expression in the hippocampus of the sham-operated group, and at each time point, there is no statistically significant difference (P > 0.05); The expression of MMP-2 in HIBD group and EPO group all show a trend of increase, and peaked at 7 d, the differences between each time point in two groups are statistically significant (P < 0.05); Compared with control group, the difference in each time point of the other two groups showed significance (P < 0.05) in addition to the 6 h point, and there is significant difference at the 7 d point between EPO group and HIBD group (P < 0.05). RT-qPCR: The gene expression of MMP-2 in control group presents a trend of increase, but there is no significant difference at different time points (P > 0.05). Gene expression in HIBD group at 24 h and 7 d points showed twin peaks, and the peak is higher at the 7 d point, but without difference (P > 0.05). MMP-2 expression of EPO group presents a trend of increase, and differences are significant between each time point (P < 0.05); At each time point, the expression of MMP-2 mRNA in both HIBD group and EPO group is extremely high than that in sham-operated group (P<0.05). Compared with the HIBD group, the expression of MMP-2 mRNA at 24 h of EPO group decreased, but it is significantly higher at the time of 7 d (P < 0.05). Conclusion Erythropoietin may upregulate the expression of MMP-2 in the delayed phase of HIBD, which may be one of the mechanisms for protecting HIBD.


Expression of bFGF and TGF-β1 in different stages of myocardial fibrosis

LU Tailing, LU Ming, CHANG Yuyin

. 2016, 34(5):  371.  doi:10.3969 j.issn.1000-3606.2016.05.014

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Objective To study the expression of basic fibroblast grouth factor (bFGF) and transforming growth factor β1 (TGF-β1) in different stages of myocardial fibrosis (CFs). Methods CFs of neonatal Sprague-Dawley rats were isolated with the method of trypsin digestion and differential anchoring velocity, then cultured in vitro. The generation 2-4 of CFs were used for the experiment and randomly divided into 2 groups: the control group were cultured without AngII , and the test group were cultured with AngII 10-6 mol/L. The test group were cultured for 12, 24, 48, and 72 h respectively, and then the synthesis of collagen were measured by ELISA, the bFGF, TGF-β1-mRNA expression was measured by RT-PCR, and the bFGF and TGF-β1 protein expression was measured by western blot analyses. Results Compared with those of control group, the expressions of bFGF and TGF-β1 both in gene and in protein in the test groups increased gradually with the timing (P < 0.01). Correlation analysis found that the expression of bFGF mRNA and protein were positively associated with TGF-β1 mRNA and protein (r = 0.967, 0.947, P < 0.05), and both bFGF and TGF-β1 were positively associated with the supernatant collagen. (r = 0.932, 0.881, 0.930, 0.896, P< 0 .05). Conclusion bFGF and TGF-β1 may be involved in the occurrence and development of myocardial fibrosis.

Recent advances of diagnostic approaches in primary ciliary dyskinesia

LIU Jiao

. 2016, 34(5):  388.  doi:10.3969 j.issn.1000-3606.2016.05.017

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Primary ciliary dyskinesia (PCD) is an autosomal recessive or x-linked disorder of cilia structure and (or) function, with a morbidity of 1:10 000–1:50 000 from foreign reports, while epidemic data of PCD in China is not available yet. PCD is due to cilia biallelic gene mutations leading to impaired tissue structure and organ function. Clinical phenotypes includechronic infections of the respiratory tract, fertility problems, disorders of organ laterality, etc, and the percent age of Kartagener syndrome is about 50%. The frequently used diagnostic methods are nasal NO examination, high-speed video microscopy, electron microscopy, genetic tests, chest high-resolution computed tomography and spirometry at present. Each method has its highlights and disadvantages, meanwhile, effective diagnostic algorithm and therapeutic protocols are needed for further research.

Progress on neonatal diabetes mellitus

ZHANG Jing, CHEN Hong

. 2016, 34(5):  393.  doi:10.3969 j.issn.1000-3606.2016.05.018

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Most neonatal diabetes mellitus (NDM) is caused by genetic abnormality. Sulfonylurea (SU) has been successfully applied in NDM patients; The pathogenesis of NDM and mechanism of sulfonylurea on molecular level have been illuminated, and recent studies revealed that glycated albumin is a useful glycemic indicator. In this review, the research progress of NDM is summarized.