Table of Content

15 May 2015 Volume 33 Issue 5

  

Attention to the diagnosis and treatment for children with non-malignant hematological diseases

XIE Xiaotian

. 2015, 33(5):  401.  doi:doi:10.3969 j.issn.1000-3606.2015.05.001

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Based on the analysis of the recent possible problems of diagnosis and treatment in the field of childhood hematopoietic diseases, this paper provides a brief interpretation on recent recommendations or guidelines for children with non-malignant hematological diseases issued by the Chinese Pediatric Hematology Group, including iron deficiency anemia, immune thrombocytopenia, hemophilia, beta thalassemia and aplastic anemia.

Attention to the effective prevention and treatment for childhood iron deficiency

ZHAO Huijun

. 2015, 33(5):  405.  doi:doi:10.3969 j.issn.1000-3606.2015.05.002

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The incidence of children with iron deficiency (ID) and iron deficiency anemia (IDA) is still higher in our country now, but the relevant prevention and treatment still lag behind. This paper provides a brief summary of the importance and impact of childhood ID and IDA prevention and treatment practice based on the recent literatures and“The recommendations of prevention and treatment for children with iron deficiency and iron-deficiency anemia” recommended by the Pediatric Hematology Group recently.

Percentage and functions of natural killer T cells in peripheral blood and bone marrow of children with severe aplastic anemia　

QIAO Xiaohong, XIE Xiaotian, LIANG Junjuan, SHI Wei, SHAO Yuexia, ZHOU Xiaoxun

. 2015, 33(5):  408.  doi:doi:10.3969 j.issn.1000-3606.2015.05.003

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　Objective　To analyze the percentage and functional changes of natural killer T (NKT) cells in peripheral blood and bone marrow of severe aplastic anemia (SAA) children before immunosuppressive therapy (IST) comparing to that of healthy children. Methods　Ten children with severe aplastic anemia were included in the study and ten healthy children at the same age were selected as the control group. By flow cytometry, the percentage of CD3+CD1d tetramer+ NKT cell in peripheral blood and bone marrow were detected from March 2014 to December 2014 in our hospital. Immune magnetic bead separation was used to isolate and purify iNKT cells .The purified iNKT cells were cultured in the OCH(50 ng/ml, 100 ng/ml or 200 ng/ml) ＋ rhIL-2 ＋ rhG-CSF culture systems. The amplification of iNKT cells after cultured in different systems were calculated. Elispot method was used to analyze the spotting form cells (SFCs) of IFN-γ or IL-4 expressed by activated iNKT cells. Results　The percentage of CD3+CD1d tetramer+ NKT cells in peripheral blood of SAA group (0.72±0.03)% was significantly lower than that of the control group (0.92±0.02)% (P=0.000). The percentage of CD3+CD1d tetramer+ NKT cells in bone marrow of SAA group (0.82±0.02)% was significantly lower than that of the control group(1.05±0.05)% (P=0.000). In vitro iNKT cell amplification ability of bone marrow in SAA group was significantly lower than the control group, and in medium concentration (50±6) and high concentration OCH group (52±6), the amplification ability was higher than that in low concentration OCH group (30±5) (P<0.05). The secretion of IFN-γ in the iNKT cells of SAA bone marrow was significantly lower in medium concentration (33±3) and high concentration (35±3) OCH group than that of the low concentration (50±3) OCH group (P<0.01). The secretion of IL-4 in the iNKT cells of SAA bone marrow was significantly higher in medium concentration (50±3) and high concentration (75±3) OCH group than that of the low concentration (33±3) OCH group (P<0.01). Conclusions　The quantity and function of NKT cells from children with SAA are lower than that of the healthy children. In vitro, they had better amplification ability and could improve IL-4/IFN-γ imbalance in medium concentration and high concentration OCH group than in low concentration OCH group.


Efficacy of cyclosporine A on treatment of 126 children with non-severe aplastic anemia

SU Yan, WU Runhui, ZHENG Jie, ZHANG Rui, ZHANG Li, ZHOU Xuan, JIANG Jin, JIN Ling

. 2015, 33(5):  413.  doi:doi:10.3969 j.issn.1000-3606.2015.05.004

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Objective　To evaluate the efficacy of cyclosporine A (CSA) in children with non-severe aplastic anemia (NSAA). Methods　A retrospective analysis of clinical data of 126 children with NSAA treated with CSA in our hospital between January 2005 and June 2014 was performed. Results　Of the 126 cases, 76 were male, and 50 were female, with a median age of 7 years and 11 months old (1 year and 11 months-14 years old), respectively. The median follow-up time was 14.5 months (3-79 months). There were 78 (61.9%) cases of transfusion-independent NSAA, and 48 (38.1%) cases of transfusion-dependent NSAA. After receiving CSA treatment, 14.1% patients with transfusion-independent NSAA achieved complete remission, 80.8% cases kept transfusion-independent NSAA, and 5.2% children progressed to transfusion-dependent NSAA or severe aplastic anemia/very severe aplastic anemia (SAA/VSAA). The response rate of CSA was 42.3%. 16.7% cases with transfusion-dependent NSAA achieved complete remission, 60.4% patients improved to transfusion-independent NSAA, and 23% children maintained transfusion-dependent NSAA or progressed to SAA/VSAA. The response rate of CSA in patients with transfusion-dependent NSAA was 77.1%. The overall response rate of CSA in 126 NSAA patients was 55.6%. Conclusions　CSA treatment can markedly reduce the probability of progression in children with NSAA. The patients can obtain benefits from early treatment of CSA. However, the complete remission rate of CSA was low, further clinical trials are necessary to establish more effective regimens for NSAA.

Measurement of serum GDF15 levels in various childhood anemias and its clinical application in the differential diagnosis of β-thalassemia major　

AI Yuan, WAN Zhi, YUAN Lixin,XIAO Hui, TANG Xue, GUO Xia, ZHU Yiping, GAO Ju

. 2015, 33(5):  417.  doi:10.3969 j.issn.1000-3606.2015.05.005

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Objective　To measure the serum GDF15 levels, to explore the possible correlations between serum GDF15 levels to anemia severity, hematopoietic activity and iron parameters in various types of childhood anemia, and to investigate its clinical application in the differential diagnosis of severe beta thalassemia (SBT). Methods　Eighty-five children with various types of anemia were enrolled into this study, including 19 cases of IDA, 8 cases of ACD, 24 cases of AA, 17 cases of severe β-thalassemia (SBT) and 17 cases of hemolytic anemia other than SBT (non-SBT HA). In addition, 21 age- and sex- matched healthy children were recruited as controls. Serum GDF15 levels both in anemic and healthy control subjects were determined by GDF15 Quantikine DGD 150 ELISA assay. Correlations were made between GDF15 levels and Hb concentrations, reticulocyte indices and iron parameters. The diagnostic significance of serum GDF15 determination in the differential diagnosis of SBT was evaluated by ROC analysis. Results　With the exception of ACD, serum GDF15 level was significantly higher in each anemic subgroup than that in control group (all P<0.001). Median and range of serum GDF15 concentrations in hemolytic group (HA) were 2299 pg/ml and 444-13368 pg/ml respectively, which were greatly higher than that in iron deficiency anemia (IDA) and aplastic anemia (AA) (both P<0.001). Notably, GDF15 levels were remarkably elevated in SBT, with median and maximal concentrations being 7480 pg/ml and 13368 pg/ml, up to 28-fold and 50-fold increase respectively as compared to median concentration in control group, and were also significantly higher than that in non-SBT HA group (P<0.0001). Serum GDF15 levels were negatively correlated to Hb concentrations both in overall anemia and HA groups (with rank correlation coefficients of -0.4286 and -0.4903, and P <0.0001 and 0.0032 respectively). Similarly, serum GDF15 levels were positively correlated to all 4 types of reticulocyte indices in the overall anemia group. Nevertheless, no correlation could be documented in each anemia subgroup. As for the 48 cases of children with measurement of iron parameters, GDF15 levels were positively correlated to serum ferritin (SF), serum iron (SI) and transferrin saturation (TS), with P values of 0.0005, <0.0001 and <0.0001 respectively. While for 23 cases with hemolytic anemia who had iron investigation results, GDF15 was also positively correlated to SI and TS, with P values of 0.0009 and 0.0042 respectively. Finally, the precision of SBT diagnosis based on serum GDF15 determination was 93.7% -100% (95% confidence interval). With serum GDF15 concentration of 5000 pg/ml as the cutoff point, the specificity of SBT diagnosis was 98.5%. Conclusions　As expected, childhood β-thalassemia major in China is also characterized by remarkably elevated serum GDF15 levels, which might be intimately associated with marked bone marrow ineffective erythropoiesis. Determination of serum GDF15 is of great significance in the differential diagnosis of β-thalassemia major.

Analysis of polymorphism of mTOR gene in children with leukemia　

ZHAO Peiwei, YUE Xin, XIONG Hao, LI Jianxin,LI Hui, HE Xuelian

. 2015, 33(5):  423.  doi:10.3969 j.issn.1000-3606.2015.05.006

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Objective　To investigate the association of single nucleotide polymorphism (rs2295080) in mTOR gene with the susceptibility to acute leukemia (AL) in Chinese children. Methods　A case-control study was performed by recruitment of 180 children with AL and 296 healthy children as controls. The genotype of this SNP was detected using PCR-RFLP. The data were analyzed by SPSS19.0. Results　There was a significant difference in genotypes in three groups (ALL, AML and control) (P=0.026). And the SNP was associated with AL, with G allele being higher in AL group than that in controls (OR=1.413, 95%CI: 1.050-1.901, P=0.022). In ALL group, G allele was also higher than that in healthy group (OR=1.456, 95%CI: 1.052-2.015, P=0.023). However, no significant association was observed in AML patients (P=0.302). In addition, ALL patients with GG genotype were associated with disease severity compared with patients with TT or GT genotype (OR=2.044, 95%CI: 0.569-7.341). Conclusion　The rs2295080 was associated with ALL, with G allele being a risk factor.

Blood culture and analysis of drug resistance of pathogenic microbes in children with acute leukemia

PAN Wei

. 2015, 33(5):  426.  doi:10.3969 j.issn.1000-3606.2015.05.007

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　Objective　To investigate the distribution of pathogenic microbes in blood culture and analysis of drug resistance of common pathogens in children with acute leukemia. Methods　BACTE-FX system made by BD company was applied for the blood culture of children with acute leukemia. API or VITEK-2 Compact bacterial identification system was used for identification of bacteria. Antimicrobial susceptibility testing was performed by disk diffusion method. Results　Among 6400 blood culture samples in children with acute leukemia, 713 cases were positive at the rate of 11.1%. Among 655 strains first isolated from the patient, Gram-positive bacteria were 52.5% (344/655) and dominated by Staphylococcus. Strains resistant to vancomycin and linezolid were not found. 278 strains (42.5%) were Gram-negative bacteria , and S.marcescens and E.coli were dominated. Gram-negetive bacteria showed high antibacterial activity to imipenem with the sensitive rate of 100%. 33 strains (5%) were fungi. Conclusions　Staphylococcus, S.marcescens, and E.coli were the most important bacteria in blood culture of children with acute leukemia. We can offer effective help for clinical treatment with the susceptibility testing.

The treatment and mechanism of platelet transfusion refractoriness in pediatric hematological disorders　HONG

　HONG Dan, ZHENG Defei, LU Jun, XIAO Peifang, SUN Yina, LU Hui, ZHAI Zong, ZHAI Qin, DU Zhizhuo, CAO Lan, WANG Yi, HE Hailong, ZHAO Wenli, HU Shaoyan

. 2015, 33(5):  429.  doi:10.3969 j.issn.1000-3606.2015.05.008

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Objective　To explore the treatment and mechanism of platelet transfusion refractoriness in pediatric hematological disorders. Methods　Retrospective analyses were performed from 4 children diagnosed with platelet transfusion refractoriness between 2013 and 2014 in Children’s Hospital of Soochow University. Clinical manifestation, laboratory tests, and the effect of plasma exchange were evaluated on pediatric platelet refractoriness. Results　Two males and two females with age ranged from 2 years to 11 years and 9 months met the criteria of platelet refractoriness. Three cases were diagnosed as AML-M5 (M5), and one case was diagnosed as severe aplastic anemia (SAA). Platelet refractoriness occurred in one case of M5 after induction chemotherapy, and two cases in the stage of hematopoietic stem cell transplantation (HSCT). The SAA patient showed platelet refractoriness on her admission. The screening for HLA antibodies with the method of Immune Luminex beads streaming technology (Luminex) revealed that HLA-I antibody reaction were positive in three patients. All four patients showed a good response to the treatment of plasma exchange. Conclusions　HLA-I class antibodies are closely associated with platelet refractoriness, the plasma exchange treatment is effective and safe for platelet refractoriness in children.

Risk factors of airway mucous plug caused by Mycoplasma pneumoniae pneumonia in children　

ZHANG Lijun, AN Shuhua, LI Jinying, TIAN Liyuan, LIU Xiaojuan

. 2015, 33(5):  432.  doi:10.3969 j.issn.1000-3606.2015.05.009

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Objective　To analyze the risk factors of mucous plug caused by Mycoplasma pneumoniae pneumonia (MPP) in children and guide clinical therapy to decrease the incidence of sequela caused by airway inflammatory obstruction. Methods　We conducted a retrospective study of the clinical data of 116 children with MPP who received fiber bronchoscope from January 2012 to January 2014 admitted to the respiratory department of the Children’s Hospital of Hebei provience. Based on the airway mucosal lesions seen through the bronchoscope, the subjects were divided into the mucous plug group (n=67) and the control group (n=49). Gender, age of onset, febrile course, pleural effusion, white blood cell counts, neutrophil ratio, C reactive protein (CRP), serum lactate dehydrogenase level (LDH), initial time of received macrolides and fiber bronchoscope were compared between the two groups. If the results of single factor analysis showed P<0.05, the indicators were analyzed by the logistic regression analysis. The receiver operator characteristic (ROC) curve was drawn to evaluate the predictability of logistic regression model. Results　The results of single factor analysis showed that age of onset, febrile course, CRP, serum LDH, pleural effusion cases in the mucous plug group were higher than those in control group (P<0.05). The results of the logistic regression analysis showed that older than three years (OR=7.45), febrile course more than 10 days (OR=4.01), the level of CRP and LDH higher than 40 mg/L (OR=5.41) and 350 U/L (OR=3.63) were respectively the risk factors of mucous plug caused by MPP in children. The area under the ROC curve is 0.846 (95%CI: 0.773-0.919, P=0.000). Conclusions　MPP children with age older than three years, or with febrile course more than 10 days, or with the level of CRP and LDH higher than 40 mg/L and 350 U/L has the possibility of forming a mucous plug.

The role of soluble triggering receptor expressed on myeloid cell-1 in children with community acquired pneumonia

YU Zhiwei, QIAN Jun, GU Xiaohong, ZHANG Xiaojuan, PAN Jianrong, JU Huili

. 2015, 33(5):  437.  doi:10.3969 j.issn.1000-3606.2015.05.010

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Objective　To investigate the role of soluble triggering receptor expressed on myeloid cell-l (sTREM-1) in children with community acquired pneumonia. Methods　One hundred and seventy-six children with community acquired pneumonia, 98 cases were mild and 78 cases were servere, were recruited. Thirty healthy children were recruited as control group. The white blood cell count (WBC), neutrophil percentage (N%), C-reactive protein (CRP), procalcitonin (PCT), interleukin-6 (IL-6), interleukin-10 (IL-10), and sTREM-1 were measured. Results　The levels of WBC, N%, CRP, IL-6, IL-10, IL-6/IL-10, PCT, and sTREM-1 were significantly different among children with mild pneumonia, severe pneumonia, and healthy controls. All of the indicators were elevated in children with mild and severe pneumonia than those in healthy controls (P<0.05). IL-6/IL-10 sTREM-1 were further significantly elevated in children with severe pneumonia than children with mild pneumonia (P<0.05). IL-6/IL-10 was positively correlated with sTREM-1 (r=0.42, P<0.05). Conclusions　sTREM-1 may help for evaluating the severity and outcome of children with community acquired pneumonia.

The pathogen distribution and antibiotic susceptibility of deep sputum specimens from neonates with congenital esophageal atresia

LU Yang, LI Luquan

. 2015, 33(5):  441.  doi:10.3969 j.issn.1000-3606.2015.05.011

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Objective　To analyze the pathogen distribution and antibiotic susceptibility of deep sputum specimens from neonates with congenital esophageal atresia (CEA). Methods　The medical records of neonates with CEA hospitalized in the Children’s Hospital of Chongqing Medical University from Jan 2004 to Oct 2014 were reviewed, and the data of pathogen distribution and their antibiotic susceptibility were further analyzed. Results　One hundred and twelve bacteria were obtained by 104 cultures from sputum specimens in 55 patients. The most common 5 of Gram-negative bacilli were Pseudomonas aeruginosa (n=36), Klebsiella pneumoniae subspecies pneumoniae (n=29), Acinetobacter baumannii (n=19), Escherichia coli (n=9) and Maltophilia Aeromonas (n=6). Gram-positive cocci were only found in five cases (Hemolytic staphylococci in 2 cases, Viridans streptococcus in 2 cases, and Staphylococcus aureus in 1 case). Drug sensitivity analysis showed that the antibiotic susceptibility of these Gram-negative bacilli to semi-synthetic penicillin and cephalosporin were less than 50%, and more than 80% to carbapenems, aminoglycosides and quinolones. The sensitivity of Gram-positive cocci to vancomycin, teicoplanin Lalin was 100%. Conclusions　The pathogen of lung infection in neonates with CEA were mainly G- bacilli, which retained low susceptibility to most semi-synthetic penicillin and part of cephalosporin while remained highly sensitive to carbapenems, aminoglycosides, and quinolones. The Gram-positive cocci remain high susceptibility to vancomycin and teicoplanin Lalin.

Clinical practice of multidimensional strategy to reduce neonatal ventilator-associated pneumonia

SHU Heng, WEI Hong, LI Jie, ZHANG Chuanlong, XU Qiong

. 2015, 33(5):  445.  doi:10.3969 j.issn.1000-3606.2015.05.012

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　Objective　 To investigate the interventional effect of multidimensional strategy to reduce the incidence of neonatal ventilator-associated pneumonia. Methods　The patients who were admitted to the NICU department and received mechanical ventilation (MV) for more than 48 hours from October 2012 to September 2014 were recruited. The control group received the experienced interventions from October 2012 to September 2013, neonates from October 2013 to September 2014 were recruited as the intervention group receiving multidimensional controlling strategy, including bundle care, education, process and outcome surveillance and feedback on the practices. The compliance of before-after implementation of interventions were quantitatively evaluated，and the rate of VAP was compared between the two groups. Results　The compliance rate of hand hygiene and the qualified rate of sputum suction, oral care, drain condensation from ventilator circuit, semi-recumbent position, and preventing of stress-ulcers were increased 17.0%, 11.4%, 14.7%, 18.2%, 37.5% and 56.3% respectively after implementation of multidimensional strategy, and had statistical difference (χ2=36.47-294.36，P<0.01). But the qualified rate of antibiotic use only was 66.1% in the post-VAP bundle phases, and showed no statistical difference before and after(P>0.05). The VAP rate was 41.7 cases per 1000 MV-days during control group and 19.7 cases per 1000 MV-days during intervention group, had statistical significance (P<0.05). But the rate of ventilator application showed no statistical difference between two group (P>0.05).Conclusion　The multidimensional strategy can effectively prevent the incidence of VAP.

Comparative study of changes in airway size and its function in childhood asthma using bronchodilator reversibility test

WANG Li,LU Zhengrong, XIA Wanmin, FAN Yinghong, LI Guiju, AI Tao, WANG Cilin, LUO Ronghua, WU Ying, LU Yi

. 2015, 33(5):  450.  doi:10.3969 j.issn.1000-3606.2015.05.013

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　Objective　To investigate the clinical significance of changes of the airway size and its function indicators in asthmatic children using dilation test. Methods　From October 2012 to April 2014, 51 children with initial attack of asthma were selected. Master Screen spirometer were used before and after nebulized albuterol sulfate pulmonary function testing; forced vital capacity (FVC), peak expiratory flow (PEF), one second forced vital capacity (FEV1), 1 second ratio (FEV1 / FVC), peak expiratory flow in the middle (MMEF), forced expiratory flow (FEF)25, FEF50, FEF75 changes were compared. Results　The average age of 51 children included in this study was (7.30 ± 2.33) years. The positive rate of dilation test was 58.8% in children with asthma onset, and increased with severity of the disease. The size of the airway absolute value of each index, percentage predicted after the test increased significantly than that before the test (P<0.05); FEV1 positive rate was 58.8%, and MMEF positive rate was 70.6%, which showed no statistically significant difference (P>0.05). Conclusions　Asthmatic children with baseline FEV1>70% can be given relaxation experiments, and indicators of large and small airways could be combined to determine the airway reversibility, which can be a better reflection of the severity of asthma.

Diagnosis value of the common test parameters in acute fever without obvious infection focus and sick appearance in children under 5 years

　WU Qing, CHAI Jiannong, XU Yongmei, ZHU Yidong

. 2015, 33(5):  454.  doi:10.3969 j.issn.1000-3606.2015.05.014

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Objective　To evaluate the diagnostic value of the common test parameters in acute fever without obvious infection focus and sick appearance in children under 5 years. Methods　The hospitalized children with fever duration less than 7 days, anal temperature higher than or equal to 38°C, age younger than or equal to 5 years, and without obvious infection focus and sick appearance were recruited, we investigated the diagnosis value of common test parameters including C-reactive protein (CRP), procalcitonin (PCT), the white blood cell count (WBC), and neutrophil percentage (N%) , according to the final diagnostic. Results　Of 228 children, 42 children (18.42%) had serious diseases, the difference of CRP, PCT between serious diseases group and non-serious diseases group were statistically significant (P<0.001). The diagnostic cut-off point of CRP was 67.1 mg/L by specificity of 0.810 and sensitivity of 0.715, that of PCT was 0.505 ng/L by specificity 0.762 and sensitivity 0.672. The specificity and sensitivity combining CRP with PCT was respectively 0.918 and 0.617. Of 228 children, 32 children had viral infections, 40 children had bacterial infections, 15 children had mycoplasma infections. The difference of CRP, PCT, WBC, and N% among three groups were statistically significant (P<0.01)。The cut-off point of CRP was 38 mg/L by sensitivity 0.900 and specificity 0.813, that of PCT was 0.450 ng/L by sensitivity 0.700 and specificity 0.812, and the specificity and sensitivity combining CRP with PCT was respectively 0.965 and 0.630, to distinguish bacterial infections from viral infections. The diagnostic cutoff point of CRP was 80.75 mg/L by sensitivity 0.700 and specificity 0.933 distinguishing bacterial infections from mycoplasma infections. Conclusions　The parameters CRP and PCT have the diagnostic value for the children with the acute fever and age younger than or equal to 5 years and without obvious infection focus and sick appearance in etiology and serious diseases, especially the value of combining CRP with PCT is better.

Expression of plasma microRNA-223 and HMGB-1 in pediatric sepsis patients and its clinical significance

　LIU Caili，LU Lingli，LIANG Guilin, GUO Yingxia, DONG Yanfei

. 2015, 33(5):  459.  doi:10.3969 j.issn.1000-3606.2015.05.015

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Objective　To investigate the changes of plasma microRNA-223(miR-223) and HMGB-1 in pediatric sepsis patients. Methods　There were 49 children with sepsis enrolled in the study (sepsis group)，severe sepsis group (n=25) and general group (n=24). Meanwhile, 50 healthy children (normal control group) were selected as control group. The expression levels of plasma miR-223and HMGB-1 (high mobility group box 1) were detected. The predictive values of miR-223and HMGB-1 in plasma of children with sepsis were evaluated by receiver operatingcharacteristic (ROC) curve. Results　The plasma miR-223 and HMGB-1 expression levels in severe sepsis group and general group were up-regulated compared with those in the normal control group (F=63.02, 76.32, P<0.05). The area under ROC curve of miR-223，HMGB-1 predicting sepsis were 0.904 (95%CI 0.821-0.998), 0.748 (95%CI: 0.625-0.903). There was positive correlation between miR-223 and HMGB-1 (r=3.532, P<0.05). Conclusions　The expression levels of plasma miR-223 in children with sepsis are significantly up-regulated, which can be used as early diagnostic markers to reflect the severity of inflammation in some degree.

Clinical features and GBA gene mutation in two siblings with type Ⅲ Gaucher disease

　CHEN Jian, MENG Yan, SHI Xiuyu, QIU Jiajing, LI Hui, ZHOU Liping

. 2015, 33(5):  462.  doi:10.3969 j.issn.1000-3606.2015.05.016

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Objective　To report clinical manifestations, electroencephalogram (EEG), and the genotypes of two siblings with type Ⅲ Gaucher disease. Methods　Two patients with different features were siblings. Their clinical data, signs, peripheral leukocytes acid β-glucosidase activity, and GBA gene were analyzed. Results　(1) The proband was a boy. He visited us at the age of nine years old because of hepatosplenomegaly, thrombocytopenia and growth retardation without any neurologic symptoms. He had normal intelligence but abnormal EEG findings. The activity of acid β-glucosidase in his leucocytes decreased to 1.5 nmol h-1·mg-1 Pr (normal range 6.0-16.7 nmol h-1·mg-1 Pr), supporting the diagnosis of type Ⅲ Gaucher disease. (2) The elder sister of the proband was 12 years old. She had tonic-clonic seizure and myoclonus seizure from the age of seven years old. Mild hepatomegaly, abnormal EEG, poor effect for antiepileptics, and progressive deterioration of psychomotor abilities were found. Her blood leucocytes acid β-glucosidase activity decreased to 1.8 nmol h-1·mg-1 Pr (normal range 6.0-16.7 nmol h-1·mg-1 Pr). Two heterozygous missense mutations, c.680A>G, (p.N188S) and c.1342G>C (p.D409H) were detected from the two siblings, respectively. Conclusions　Patients with type Ⅲ Gaucher disease usually have the onset in childhood with typical features of Gaucher disease without neurologic involvement. Abnormal EEG may be helpful to the differential diagnosis of type I or type Ⅲ . On the other hand, neurologic manifestations could be presented as the first symptom in some patients without viscera enlargement. The patients of type Ⅲ Gaucher disease with the same genotype could have different phenotypes, even between the siblings.

The magnetic resonance imaging features and clinical manifestations of citrullinemia　

CHENG Ailan, HAN Lianshu,FENG Yun, JIN Biao

. 2015, 33(5):  466.  doi:10.3969 j.issn.1000-3606.2015.05.017

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　Objective　To investigate the brain magnetic resonance imaging (MRI) features and clinical manifestations of the patients with citrullinemia, and to promote awareness of, early diagnosis of and better treatment for the disease. Methods　One case with citrullinemia was reported, and other eight cases reported in the literature in nearly 14 years were reviewed. Results　The case was a 15-month-old girl with type I citrullinemia diagnosed by the mutation analysis of the ASS1 gene performed in local hospital after birth. The patient was admitted to our hospital for recurrent lethargy for a year and the high level of blood ammonia (311 μmol/L, normal range 9-33 μmol/L). The blood ammonia reduced to normal on the 11th day after arginine treatment. On MRI scans, the diffusion weighted imaging (DWI) showed diffuse hyperintensity on bilateral frontal, parietal and temporal cortex, which indicated restricted diffusion due to cytotoxic edema. On the follow-up MRI after 10 day’s treatment, the affected regions was similar but the intensity decreased compared to the previous scan,which accompanied by cerebral atrophy. Eight cases in the literature were reviewed, and the clinical manifestations in these patients were lack of specificity, the most common features included feeding difficulties, lethargy, and vomiting. Brain MRI was performed on 7 cases, computed tomography (CT) was performed on 1 case, with the result of cytotoxic edema in 3 cases and atrophy in 2 cases. Conclusions　 Citrullinemia often lacks of specific symptoms in the early phase. Brain MRI could provide the clinician a valuable help for early diagnosis and treatment of this disease.

Clinical features of the variants of benign childhood epilepsy with central temporal spikes: 12 cases report

NING Zeshu, YANG Liming, JIANG Zhi, CHEN Bo, ZHANG Jie

. 2015, 33(5):  470.  doi:10.3969 j.issn.1000-3606.2015.05.018

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　Objective　To study the clinical features of the variants of benign childhood epilepsy with central temporal spikes (BECT). Methods The clinical data of 12 hospitalized pediatric patients with BECT from Jan 2007 to Jan 2014 were retrospectively reviewed. Results There were 7 boys and 5 girls in 12 patients. The age of onset was from 3 to 9 years old. Two cases were dizygotic twins. The atypical symptoms included atypical absence of 10 cases, negative myoclonic seizure of 8 cases, speech expression disorders and oral-pharynx apraxia of 4 cases. The electroencephalography (EEG) of all 12 patients showed abundance of spike and waves (SW) in rolandic areas during wake-up and sleep. The SW index was 50%-85% during slow sleep in all patients. Conclusions The variants of BECT are often associated with EEG deterioration. Understanding the clinical featuress and EEG characteristics can help the diagnosis of BECT variants.

Microarray detection of the copy number variations in a patient with developmental delay　

ZHU Lina, WANG Yan,CHEN Jia, YANG Xiao, PENG Wei, MA Xiuwei, FENG Zhichun

. 2015, 33(5):  473.  doi:10.3969 j.issn.1000-3606.2015.05.019

Abstract ( 352 )   PDF (1350KB) ( 836 )  

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Objective　To investigate the copy number variants of a developmental delay patient by applying single nucleotide polymorphisms array technique and to analyze the relationship between the clinical manifestation and copy number variants. Methods　Single nucleotide polymorphisms array was used to detect genomic copy number variants in a child with development delay and her phenotypic normal parents. Results　The patient had a 7. 9-Mb deletion at 8p23.3-p23.1 and a 27.4-Mb duplication at 8p23.1-p11.23, which were confirmed as pathogenic copy number variants after comparative analysis with database. Conclusions　Single nucleotide polymorphisms array could serve as a useful method to diagnose developmental delay patients and analyze pathogenesis.

Effect of cold storage on nutrients and immune substances in human milk

ZHAI Yingchen, HUANG Weichun,LI Huaiyuan, XIE Enping, TANG Jihui, LI Jing

. 2015, 33(5):  477.  doi:10.3969 j.issn.1000-3606.2015.05.020

Abstract ( 567 )   PDF (1258KB) ( 375 )  

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　Objective　To explore the optimal storage standard of fresh human milk, and to observe the influence of different cold storage condition (time-temperature) on macronutrients (fat, protein, carbohydrates, TS and energy), immune substances (sIgA, lactoferrin, IL-6, 8, 10 and TNF-α) and bacteria indicators of fresh human milk. Methods　Fresh milk samples (n=30) were divided and stored at three temperature and nine time points, which are 4℃ (24 h, 48 h, 72 h), -18℃ (72 h, 7 d, 14 d, 4 w, 8 w, 12 w), and -80℃ (12 w, 24 w). At each time point, the macronutrients , immune substance, and bacteria colony counts of each milk sample were measured and compared with fresh milk. Results　Compared with fresh milk, all indicators with the exception of lactoferrin in stored human milk showed significant difference (P<0.05). Under 4℃ refrigeration condition, fat, IL-6, and TNF-α decreased, bacteria colony counts and Gram-positive colony counts increased over 72 h storage (P<0.05). Under -18℃ freezing condition, fat, protein, TS, energy and IL-6 decreased from 72 h to 12 w storage (P<0.05); carbohydrates and sIgA also decreased from 4 w and 8 w storage, respectively (P<0.05). Under -80 ℃ freezing condition, fat, protein, TS, energy and IL-6 decreased over 24 W storage (P<0.05). Conclusions　The macronutrients, immune substance, and bacteria indicators of human milk were affected obviously by cold storage. Refrigerated at 4℃ should not be longer than 72 h, -80℃ freezing condition should be chosen for more than two months storage.

Abnormal activation of Notch1 and T-cell acute lymphoblastic leukemia

YAN Hui, LIU Lanbo, MO Xi

. 2015, 33(5):  483.  doi:10.3969 j.issn.1000-3606.2015.05.021

Abstract ( 411 )   PDF (1204KB) ( 540 )  

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Abnormal activation of Notch1 plays pivotal roles in the molecular pathogenesis of human T-cell acute lymphoblastic leukemia (T-ALL). Activating Notch1 mutations present in over 60% of the T-ALL patients. However, so far, there is no therapy with little side effects that specifically targets the abnormally activated Notch1 pathway-induced T-ALL. The present study briefly reviewed the effects of abnormal activation of Notch1 in the pathogenesis of T-ALL, as well as the current approaches targeting Notch1 and its limitations, thus providing some guidance for the research and development of clinical therapies targeting T-ALL.

An update on pathogenesis and treatment of Glanzmann thrombasthenia

GAO Min

. 2015, 33(5):  486.  doi:10.3969 j.issn.1000-3606.2015.05.022

Abstract ( 418 )   PDF (1204KB) ( 741 )  

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　Glanzmann thrombasthenia (GT) is an inherited disease of platelet function disorders characterized by mucocutaneous bleeding due to platelets failed to aggregate in response to physiologic stimuli. GT is a rare inherited disease and caused by quantitative or qualitative deficiencies of an integrin receptor GP Ⅱb/Ⅲa for adhesive proteins. There is no unified treatment strategy available so far for GT. This review summarizes the update of pathogenesis treatment progresses in GT.

Assessment of cardiac involvement related to iron overload in β-thalassemia major

LONG Xingjiang, JIN Lin

. 2015, 33(5):  490.  doi:10.3969 j.issn.1000-3606.2015.05.023

Abstract ( 1039 )   PDF (1238KB) ( 26130 )  

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Cardiac involvement related to iron overload caused by long-term blood transfusion is a major cause of death for patients with thalassemia major. Patients’ survival will be improved greatly if cardiomyopathy resulted from transfusional iron overload could be detected timely and effective iron chelation be initiated promptly. In the present article, various evaluation methods currently used in clinical practice are reviewed, with particular focus on cardiac MRI for the monitoring of myocardial involvement related to iron overload.

Research progress on the effect of cytomegalovirus infection on lipid metabolism

SHEN Yiyi, LIU Zhifeng

. 2015, 33(5):  494.  doi:10.3969 j.issn.1000-3606.2015.05.024

Abstract ( 379 )   PDF (1206KB) ( 575 )  

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Human cytomegalovirus (HCMV) has a higher prevalence in the population, and most normal individuals after primary infection can establish latent infections. Recent reports have suggested that cytomegalovirus infection associated with lipid metabolism, and play an important role in the pathogenesis of many diseases, such as hepatitis, atherosclerosis, isolated syndrome, metabolic syndrome, etc. This article summarized the relationship between cytomegalovirus infection and lipid metabolism, as well as its role in a variety of diseases progression.