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    06 August 2010, Volume 25 Issue 08 Previous Issue    Next Issue

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    Diagnosis and fine location of deletion region in Jacobsen syndrome patients.
    JI Chao-Yun-1, CHEN Gong-Mei-2, TUN  Ye-1, XIAO  Jing-3, WANG Jing-Min-1, LI  Ji-1, JIANG Yu-Wu-1
    2010, 25(08): 602. 
    Abstract ( )  

    Abstract:Objective To first diagnose and fine map the chromosome deletion regions of two children with Jacobsen syndrome by Affymetrix SNP 6.0 chip in China and roughly analyze the correlation between phenotype and genotype. Methods Genomic DNA of each index patient and his/her parents was extracted from peripheral blood. Screening of subtelomeric rearrangements was carried out in all patients by MLPA(P070). For each patient with a positive result,a subsequent second-stage test was performed with another MLPA kit (P036). The parents of patients who had positive results confirmed by the second kit were tested to assess whether the genetic aberrations were de novo or inherited. If the subtelomeric aberrations were de novo,then we used the Affymetrix genome-wide human SNP array 6.0 to confirm and accurately define the exact size of each subtelomeric aberrant region. Results We found that two patients presented with severe DD,microcephaly,and facial dysmophism. Patient 1 had low birth weight and white matter with delaying of myelinization,and patient 2 had congenital heart disease and skeletal deformity. No patient was with thrombocytopenia. We found that the sizes of the deletions were 4.1 Mb and12.8 Mb respectively. The 4.1 Mb deletion was smaller than any other region previously reported for this syndrome. Conclusion The critical region underlying DD/MR is probably distal part within 4.1Mb to the telomere,and SNX19,THYN1,OPCML,NCAPD3 and NTM might be candidate genes. One of the critical regions for craniofacial abnormalities may be within 130.3-134.4Mb in chromosome 11q. (3) The critical region related to congenital heart malformations may be within 125.8Mb-130.4Mb in chromosome 11q. However,we realize that this study is limited by the small sample of cases presented and hope that in the future more Chinese JBS patients will be reported to elucidate the spectrum and relationship of the phenotype and genotype of JBS in China.

    Effect of human cytomegalovirus on the expression of hoxa9 and hoxa10 homeobox gene in the proliferation of granulocyte progenitor in vitro.
    CHEN Jun-Gong, LIU Wen-Jun, GUO Ju-Lian, YANG  Mei, SHI  Han, FENG Jing-Jiao, HUANG Mei-Xian
    2010, 25(08): 607. 
    Abstract ( )  

    Abstract:Objective To observe the expression of hoxa9 gene and hoxa10 gene in the process of the differentiation and proliferation of hematopoietic stem cell to Colony Forming Unit-Granulocyte(CFU-G)in vitro,and to explore the possible mechanism of HCMV-induced maldevelopment to human cord blood Granulocyte Progenitor in genic level. Methods Twelve cases of cord blood were collected from fetal placenta umbilical vein. By the colony culture in vitro, the impact of HCMV-AD169 and ATRA on the CFU-G colony formation was observed, then detect the expression of hoxa9 and hoxa10 genes in the differentiation progress of Hematopoietic Stem Cell (HSC) to CFU-G affected by HCMV and/or ATRA on the third, seventh, and twelfth day. Results Homeobox genes did have a regulatory function in the differentiation process of hematopoiesis. Compared with the expression of hoxa9 and hoxa10 genes on day 3, the quantity of hoxa9 and hoxa10 genes was obviously higher on day 7 and lower on day 12 respectively in each group. Compared with the expression of hoxa9 and hoxa10 genes of normal group, the expression of hoxa9 and hoxa10 of the group ATRA was up-regulated remarkably,while the expression of hoxa9 and hoxa10 of the group HCMV was down-regulated. ATRA was against the down-regulated effect caused by HCMV. Conclusion The hoxa9 and hoxa10 gene are correlated to the manipulation of the proliferation and differentiation of granulocyte progenitor cell. The abnormal expression of hoxa9 and hoxa10 gene induced by HCMV may play an important role in HCMV-induced abnormal hematogenic damage. ATRA( 6×10-8 mol/L)can up-regulate the expression of hoxa9 and hoxa10 genes,which confirms the theory that the normal hematopoietic lineage determination and maturation rely on the stable and consistently expression of Homeobox genes.

    Clinical research into Rituximab treatment for children with systemic lupus erythematosus.
    ZHOU Zhi-Han, LAI Jian-Ming, YANG Li-Ping, HUANG Xiao-Lan, TUN Feng-Qi
    2010, 25(08): 611. 
    Abstract ( )  

    Abstract:Objective To observe the efficacy and safety of Rituximab (Roche Pharmaceuticals RTX, trade name: rituximab) treatment for children with systemic lupus erythematosus,and try to find a useful alternative therapeutic approach to those with bad response to traditional therapies. Methods Produced by Roche Pharmaceuticals,CD20 monoclonal antibody rituximab was used by intravenous injection. Initial dose was 188 mg/m2, 2 weeks later the second injection was given at 375 mg/m2. Thirty minutes before each injection 5mg Dexamethasone and 10mg Promethazine were given to prevent drug allergy. Results Twelve cases of SLE in children were performed flow cytometry detection of CD20+ 4 weeks after administration,10 cases were 0(85.71%) in B cell depletion, and gradually rose after 6~8 months. IgG, IgM and IgA plasma had no significant difference from the baseline. Clinical manifestations and clinical signs in 12 cases of children were evaluated,and the average score dropped from 16.0±2.95 to 8.67±1.83. ANA, Anti-ds-DNA, C3 and C4 had different degrees of improvement. In 6 cases of lupus nephritis children with urinary protein was significantly improved after 6 months of Rituximab treatment;4 cases of elevated serum creatinine and blood urea nitrogen was also returned to normal after 6 months of treatment. One case had severe pulmonary infection. Conclusion Significant effects of CD20+ monoclonal antibody (rituximab) treatment are shown for children with SLE and lupus nephritis, especially in severe children. This provides a new alternative treatment for those with poor tolerance to traditional Prednisone and cyclophosphamide treatment and with poor clinical effect. However, infection problem can not be ignored. The Rituximab replacement treatment for children with SLE still need further study.

    Study of TSC1 gene exon 15 mutation detected by denaturing high performance liquid chromatography in Chinese patients with tuberous sclerosis complex.
    XU Xiao-Chi-a, SONG  Li-b, ZHANG Yu-Qin-a, LI  Xin-c, XIE Lou-Mei-a
    2010, 25(08): 614. 
    Abstract ( )  

    Abstract:Objective To study the characteristics of mutation of TSC1 gene exan 15 in tuberous sclerosis complex. Methods Totally 21 children with confirmed clinical manifestations of TSC and 38 parents of the children coming from 21 TSC families were included in the study. In total, we studied 6 familial cases and 15 sporadic cases. The mutation of exon 15 in TSC1 gene was identified by denaturing high performance liquid chromatography (DHPLC) and further confirmed by direct sequencing. Results After being confirmed by DNA direct sequencing, mutations were identified in 4/21(19%)patients, in which there were c.1708~1709delAG(p.Arg570GlyfsX17) and c.1888~1891delAAAG(p.Lys630GlnfsX22) two small deletion mutations and one c.1460C > G(p.Ser487Cys) missense mutation. c.1460C > G(p.Ser487Cys) mutation was reported the second. One family case and three sporadic cases were found. In our study, the mutation frequency of exon 15 in TSC1 gene was 4/21(19%), which was higher than other reports. The main clinical characters of the patients with mutation on exon 15 in TSC1 gene were brain and skin impair. We also found that the patients with the same mutation c.1888~1891delAAAG(p.Lys630GlnfsX22) had different phenotype, but the patients with different mutations c.1708~1709delAG(p.Arg570GlyfsX17) and c.1888~1891delAAAG (p.Lys630GlnfsX22) nearly had the same phenotype. Conclusion Totally three TSC1 gene mutations that have never been reported in China are identified.

    Epidemiological study of viral diarrhea in Guangzhou.
    LIU Zhi-Hua-a, GONG Si-Tang-a, ZHONG Jia-Yu-b, WANG Chang-Bing-b, SHU  Bing-b, HE Wan-Er-a
    2010, 25(08): 618. 
    Abstract ( )  

    Abstract:Objective To analyze the prevalence characteristic of viral diarrhea in Guangzhou. Methods Totally 985 specimens and condition information were collected from children with acute diarrhea in Guangzhou Children’s Hospital from August 2008 to July 2009, then real-time fluorescence quantitative PCR was employed to detect HRV, NORV, EAdV, ASTV and SPAV. Results Among the 985 specimens 452 specimens were positive,in which 103 specimens was found with co-infection; the annual rate of HRV, NORV, EAdV, ASTV and SPAV was 28.0%, 13.7 %, 8.8%, 4.9% and 1.0%.About 95% of positive samples were from infants under 2 years of age; the incidence rate of watery stools, fever and vomit was 88.9%, 68.4% and 75.2%. Conclusion Viral diarrhea is the most common cause in infants and young children with acute diarrhea. HRV is the most important pathogens. October to December is the peak incidence. Infants under 2 years is a major pop groups. Watery stools, fever and vomiting is infantile viral diarrhea triad. Co-infection is common but has little influence on symptoms.

    Study on the genotype of Mycobacterium tuberculosis isolates and its drug resistance.
    BANG  Zhe, SHU Chao-Min, LI Ai-Zhi, NIE Lin-Lin
    2010, 25(08): 622. 
    Abstract ( )  

    Abstract:Objective To explore the characteristics on molecular epidemiology of Mycobacterium tuberculosis isolates in chilidren and to analyse the relationship between drug resistance and genotype. Methods Totally 150 M.tuberculosis isolated strains were collected from Children's Hospital of Chongqing Medical University and typed by MIRU genotyping.The relationship between genetic type and drug resistance was explored. Results The 150 strains were divided into 89 distinct MIRU patterns’ and 65 isolates of them were unique. Totally 85 strains were grouped into 24 different MIRU clusters. The MIRU genotype of the largest cluster was 223325173533. Drug resistant M. tuberculosis wasn’t associated with cluster type. Conclusion 223325173533 genotype was perhaps the main epidemic strains for children in Chongqing. Drug-resistance might have no relationship with the clustering genotype.

    Clinical characteristics of 40 infants with cytomegalovirus pneumonia. 
    LIU Li-Yun, HAN Xiao-Hua, CHANG Yun-Xiao, CA Xu-Xu
    2010, 25(08): 625. 
    Abstract ( )  

    Abstract:Objective To explore the clinical characteristics, diagnosis and treatment for infants with cytomegalovirus (CMV) pneumonia. Methods Totally 40 patients with pneumonia, 1 to 12 months, with positive serum CMV-IgM and positive uric CMV-DNA quantitation were considered as the study group; 20 patients with pneumonia, 1 to 12 months, with negative serum CMV-IgM and negative uric CMV-DNA quantitation were considered as the control group in the same period. The clinical data were compared between the two groups, so as to evaluate the clinical characteristics, diagnosis and therapeutic effects of CMV pneumonia in infants. Results No significant difference was detected between the study group and the control group concerning cough, gasp and dyspnea(P > 0.05), while the main signs of lung had significant difference between them(P < 0.05). The iconographic diagnosis of CMV pneumonia was mainly based on lung CT, with a sensitivity of 100%, while the diagnosis sensitivity of the lung CR was 29.4%. Thirty children in the study group were treated with ganciclovir,and among these patients, 22 were cured ( cure rate was 73.3%), and the cure rate of the group without GCV treatment was 20.0%(P < 0.05). Conclusion The diagnosis of CMV pneumonia in infants is difficult for there is no specificity in clinical manifestation and signs of lung. The sensitivity of lung CT to diagnose the pneumonia was superior to lung CR. The serum CMV-IgM, uric CMV-DNA and lung CT are essential for the patients with CMV pneumonia. The effective medicine for treatment is GCV.

    Anxiety and depression among poly-victimized juvenile and their association with psychological resilience. 
    CHEN Qian-Qian, CAO Feng-Lin, LIU Jia-Jia, CHENG Pei-Xia, KONG  Jian, LI Yu-Li, DONG Fang-Gong
    2010, 25(08): 628. 
    Abstract ( )  

    Abstract:Objective To learn anxiety and depression among poly-victimized juvenile and their association with psychological resilience. Methods Self-rated questionnaires including JVQ,SCARED,DSRSC and RS were given to 3155 juvenile of two places in Shandong province, which yielded from stratified cluster sampling. Results Totally 533 juvenile (16.89%) were poly-victimized according to JVQ (score≥5),among whom 288 teenagers (54.03%) reported anxiety disorder,and 107 (20.08%) reported depression disorder. The score of SCARED and DSRSC in poly-victimized group was higher than that in control group (P < 0.01). Significant negative correlations were found between score of RE including its two factors and that of SCARED and DSRSC(r = -0.21~-0.39,P < 0.01). Conclusion The poly-victimized juvenile have more anxiety and depression problems, and juvenile with better psychological resilience have fewer such problems. Psychological resilience of juvenile should be improved to deal with emotional problems.

    Characteristics of adenovirus infection in children with acute respiratory tract infection.
    LIU Chun-Yan-1, XIAO  Yan-2, ZHANG  Hui-1, DIAO Cheng-Song-1, XIE Zheng-De-1, SHEN Hun-Ling-1
    2010, 25(08): 631. 
    Abstract ( )  

    Abstract:Objective To investigate the characteristics of adenovirus infection in children with acute respiratory tract infection. Methods From May to June 2009, 492 out-patients with acute respiratory tract infection were involved in our study. One throat swab specimen was collected from each patient. (RT) PCRs were performed to detect common respiratory tract viruses including respiratory syncytial virus (RSV), rhinovirus (RV), influzenza virus type A and B (IFA, IFB), parainfluenza virus (PIV) type 1~4, adenovirus (AdV), enterovirus (EV), human coronavirus (HCoV), human metapneumonia virus (hMPV) and human bocavirus (HBoV). AdV amplicons were cloned and sequenced to determine the AdV serotypes by using Blast and phylogenetic analysis. Results At least one viral pathogen was detected in 165 out of 492 patients and the overall positive rate was 33.5%. AdV was detected in 53 (10.8%) specimens and it was the most common viral pathogen. Of the 53 AdV postive samples, 3 subgroups and 7 serotypes were found. AdV serotype 3 (23/53) was the major serotype, followed by serotype 7 (8/53) and serotype 1 (7/53). Conclusion There were several AdV serotypes circulating in the spring of 2009 in Beijing area and serotype 3 was the predominant strain. AdV still playes an important role in acute respiratory tract infection in children.

    Study on the changes of serum orexin-A in obstructive apnea-hypopnea syndrome and its significance. 
    A Bu-Lai-Chi, GU Li-Ba-Ha-·Mai-Mai-Chi, XU Pei-Ru
    2010, 25(08): 634. 
    Abstract ( )  

    Abstract:Objective To explore the changes and implications of serum orexin-A levels in childrens with obstructive sleep apnea-hypopnea syndrome (OSAHS). Methods Polysomnography was performed in 30 OSAHS children (OSAHS group), 20 normal healthy children (control group)and 30 obese subjects (obese group). Serum orexin-A concentration was measured with EIA kit. Results Serum orexin-A level in the OSAHS group [(0.49±0.10) μg/mL] was significantly higher than that in the obese group [(0.29±0.07) μg/mL,P < 0.01]and the control group[(0.30±0.12) μg/mL,P < 0.01]respectively; serum orexin-A level in children with OSAHS correlated positively with the AHI(r = 0.427, P < 0.05)and MAI (r = 0.468, P < 0.05), but correlated negatively with the lowest oxygen saturation (LSaO2) (r = -0.527, P < 0.01) and the mean oxygen saturation (MSaO2) (r = -0.541, P < 0.01),but not correlated significantly with the BMI (r = -0.212, P > 0.05). Conclusion Serum orexin-A level in OSAHS children is increased, which may be caused by frequent awaking and hypoxia. The serum level of orexin-A should be used as a predictor in screening OSAHS children.

    Detection and analysis of levels of MV IgG in lying-in mothers and non-measles infants.
    GENG Qing-Jing, SHU  Hui
    2010, 25(08): 638. 
    Abstract ( )  

    Abstract: Objective Evaluate the level of measles’ IgG in healthy lying-in mothers and non-measles infants to assess their protective competence to measles. Methods We collected blood samples from 100 healthy lying-in mothers, 52 non-measles newborns and 52 non-measles infants of 2~6 months old, and Enzyme Linked ImmunoSorbent Assay (ELISA) was applied to detect the levels of MV IgG. Results Totally 47 out of the 100 (47.0%) healthy lying-in mothers had protective competence and only 9 of them (9.0%) had the obvious protective competence. In the 52 newborns and 52 infants of 2~6 month 20 (38.46%) and 6 (11.54%) cases respectively had protective competence and only 5 of the newborns (9.61%) had the obvious protective competence to prevent them from being infected by measles virus. Conclusion The levels of measles’ IgG in these people are low. There is some kind of correlation between lying-in mothers and newborns and the levels in 2~6-month old infants are lower.

    Plasma colloid osmotic pressure monitoring in fluid resuscitation of pediatric patients in septic shock.
    BO Hui-Ju- , LIN Xiao-Mao, WEN Hai-Xiang, CHEN  Liang
    2010, 25(08): 642. 
    Abstract ( )  

    Abstract Objective:To research the advantages of plasma colloid osmotic pressure (COP)monitoring in fluid resuscitation of pediatric patients in septic shock. Methods A total of 47 pediatric patients in septic shock were divided randomly into 2 groups; all cases were dynamically monitored COP,and under went fluid resuscitation. In Group A (22 cases), fluid infused depending on clinical experience,and COP indexes were not considered. Only normal sodium was used in quick transfusion period. Crystal vs colloid fluid was 2~3 ∶ 1 during continuing and sustaining transfusion period.In Group B (25 cases), if COP was lower than normal,more colloid fluid was used in quick transfusion period and Crystal vs colloid fluid was 1 ∶ 1 during continuing and sustaining transfusion period;otherwise ,treatments were the same as in group A. Average artery pressure(MAP), urine volume per hour, central venous pressure (cvp),fluid resuscitation volume, usage amount of vasoactive drug,and pediatric critical illness scores (PCIS scores) of two groups were recorded and statistically analyzed. Results At first,COP,PCIS scores,MAP and CVP were similar between group A and B; COP was obviously lower than normal. Colloid fluid volume and COP of group B in every period were more than group A. Total fluid volume of group B during 6 and 24 hours were less than group A; at 1 and 6 hour, PCIS scores, urine volume per hour, MAP and CVP of group B were more than group A, usage amount of vasoactive drug was less than group A. After 24 hours, PCIS scores, urine volume per hours, MAP,CVP were similar between group A and B, but in group B usage amount of vasoactive drug was less than that in group A. Conclusion Monitoring COP during fluid resuscitation of pediatric patients in septic shock, and adjusting ctystal colloid proportion depending on it , was helpful to increase curative effect.