Loading...

Table of Content

    15 February 2018 Volume 36 Issue 2
      
    Determination of Clara cell secretory protein 16 and pulmonary surfactant protein D in children with severe pneumonia and its clinical significanc
    QIAO Junying, LI Yuanzhe, LI Liping, GUO Feifei, CHEN Lixia
    . 2018, 36(2):  81.  doi:10.3969/j.issn.1000-3606.2018.02.001
    Abstract ( 357 )   PDF (1223KB) ( 216 )  
    Related Articles | Metrics
    Objective To explore the changes of serum Clara cell secretory protein 16 (CC16), pulmonary surfactant protein D (SP-D) in children with pneumonia and its clinical significance. Methods A total of 81 pediatric patients with community-acquired pneumonia were selected, including severe pneumonia with mechanical ventilation group (n=21), severe pneumonia with non-mechanical ventilation group (n=30), mild pneumonia group (n=30), and the control group (n=20) was selected in the physical examination of healthy children over the same period. We detected the concentration of serum CC16, TNF-α, IL-6 and SP-D for the 4 groups by ELISA, and evaluated the clinical values of serum CC16, TNF-α, IL-6 and SP-D for severe pneumonia by using ROC curve. We recorded pulmonary dynamic compliance (Cdyn), airway resistance (Raw), peak inspiratory pressure (PIP), work of breathing (WOB) and other respiratory mechanical parameters, and analyzed the correlations between CC16 and TNF-α, IL-6, SP-D and respiratory mechanical parameters. Results The concentrations of serum CC16 in pneumonia group were all significantly lower than that in the control group, and those in severe pneumonia groups were lower than that in mild pneumonia group, and mechanical ventilation group was lower than that in non-mechanical ventilation; the concentration of serum TNF-α, IL-6 and SP-D in pneumonia groups were all obviously higher than that in the control group, and severe pneumonia group were higher than that in mild pneumonia group, and those in mechanical ventilation group were also higher than that in non-mechanical ventilation group (P<0.05). Compared to that before removing the ventilator, concentration of serum CC16 in severe pneumonia with mechanical ventilation group decreased significantly at 1 hour and lowered down at 72 hours; but the concentration of serum TNF-α, IL-6 and SP-D in severe pneumonia with mechanical ventilation increased significantly at 1 hour and went higher at 72 hours, the differences were all statistically significant (all of P<0.05); compared to  that before weaning from the ventilator, the value of Cdyn decreased obviously in severe pneumonia with mechanical ventilation at 72 hours and lowered down at 1 hour; but the values of Raw, PIP, WOB in severe pneumonia with mechanical ventilation increased obviously at 72 hours and more higher at 1 hour, the differences were all statistically significant (all of P<0.05). The concentration of serum CC16 showed all negative correlations with TNF-α, IL-6 and SP-D, but it showed positive correlation with Cdyn ( all of P<0.01). In the ROC curve, the area under the ROC curve of CC16, TNF-α, IL-6 and SP-D in serum was 0.905, 0.704, 0.832, 0.825, respectively (for all of which P<0.01). Conclusion The concentrations of serum CC16 and SP-D were associated with the severity of community acquired-pneumonia in children. The level of serum CC16 was positive associated with Cdyn in children with mechanical ventilation. CC16 has better prediction and evaluation effect on the change of severe pneumonia.
    Genome-wide copy number variations in congenital cystic lung disease
     ZHENG Hong, PENG Donghong
    . 2018, 36(2):  87.  doi:10.3969/j.issn.1000-3606.2018.02.002
    Abstract ( 278 )   PDF (1137KB) ( 203 )  
    Related Articles | Metrics
     Objective To explore the potentially relevant copy number variations (CNVs) in congenital cystic lung diseases (CCLD). Methods Clinical data of 16 patients diagnosed with CCLD and CNVs results were retrospectively analyzed. Results Of 16 cases, 12 were males and 4 were females aged between 2 months and 12 years and 6 months. Of 16 cases, 10 cases were bronchogenic cyst, 4 cases were pulmonary sequestration, 2 cases were congenital cystic adenomatoid malformation, 1 case was congenital lobar emphysema and one case was not classified. These cases presented mainly with fever, cough, and sputum without specificity. Six CNVs with unknown clinical significance were found in two patients. Abnormal amplification of HDAC8 gene was found in 4 patients diagnosed with BC. Conclusions CCLD is less likely to be associated with the CNVs; HDAC8 gene may be related to bronchogenic cyst.
    Clinical features of three pulmonary alveolar proteinosis patients
     HUANG Yanhong, PENG donghong
    . 2018, 36(2):  91.  doi:10.3969/j.issn.1000-3606.2018.02.003
    Abstract ( 344 )   PDF (1576KB) ( 206 )  
    Related Articles | Metrics
    Objective To investigate the diagnosis and treatment of pulmonary alveolar proteinosis (PAP). Methods Clinical data of 3 children with PAP admitted from 2010 to 2016 were retrospectively analyzed. Results Three children were female and aged 3 years and 1 month, 3 years and 9 months, and 6 years and 4 months, respectively. The main symptom of the three children was cough along with or without anhelation. Two of them had longer course of disease. The therapeutic effect of conventional treatment was poor, and their chest CT indicated significant lesions. Fiberoptic bronchoscopy showed positive reaction by PAS staining, and the treatment effect was improved after bronchoalveolar lavage. Conclusions The main clinical symptoms of PAP are non-specific cough and shortness of breath. PAS staining and bronchoalveolar lavage are of great value in the diagnosis and treatment of PAP.
    Prospective study on the relationship between CCL22, a cord blood chemokine, and risk of atopic diseases
     HUANG Zhuzhu, WANG Xiaonan, CHEN Feng, LI Renjie, FU Bin
    . 2018, 36(2):  108.  doi:10.3969/j.issn.1000-3606.2018.02.005
    Abstract ( 307 )   PDF (1235KB) ( 247 )  
    Related Articles | Metrics
    Objective To investigate the risk of atopic disease in infants with a atopic mothers. Methods The level of CCL22 and total IgE in the cord blood were measured using ELISA for 33 newborns with atopic mothers and for 44 newborns with non-atopic mothers. Correlation between the two factors was examined. Periodic follow-ups were conducted on the newborns to observe the risk of atopic diseases. Results  The atopic group showed a higher level of CCL22 than that in nonatopic group, and the difference was statistically significant (Z=5.20, P=0.000). When 0.9 kU/L was taken as the threshold of an elevated IgE level in cord blood, the positive rates of the atopic group (11/33) was much higher than that of the non-atopic group (4/44) (χ2=7.07, P=0.008). Furthermore, the level of CCL22 and the level of IgE were significantly positively correlated (r=0.808, P=0.000; r=0.348, P=0.021) in the atopic group and the non-atopic group, respectively. During the 12 months of follow-up, the number of atopic diseases occurred in the infants in the atopic group (24/33) was much higher than that in the non-atopic group (10/44) (χ2=19.12, P<0.001).Significant correlation exists between levels CCL22 and total IgE in cord blood and infant atopic diseases (Z=5.36, P=0.000; Z=4.44, P=0.000). Conclusions At birth, the infants with an atopic mother are already in a sensitization state and have a tendency to develop potential atopic diseases. There is a correlation between the history of atopic diseases in the mothers and the elevated level of CCL22 in the cord blood of the newborns, and the probability of developing atopic diseases for the newborns is significantly higher when the level of CCL22 is elevated. The combined detection of CCL22 and IgE levels impact significantly on the prediction of the risk of atopic diseases clinically.
    Association between polymorphism of NDUT15 gene and leucopenia induced by 6-mercaptopurine in children with acute lymphoblastic leukemia
     LIU Jingjun, WANG Xuexia
    . 2018, 36(2):  113.  doi:10.3969/j.issn.1000-3606.2018.02.006
    Abstract ( 445 )   PDF (1229KB) ( 163 )  
    Related Articles | Metrics
    Objective To investigate the association between single nucleotide polymorphisms (SNP) (rs116855232 in NDUT15 gene) and acute lymphocytic leukemia (ALL) in Chinese Han children. Methods A total of 133 children with ALL were recruited in this study, and were divided into two groups based on white blood cell count (WBC) as of WBC≤2.0×109 group and WBC>2.0×109 group. Genotypes of each patient were detected using PCR-RFLP. WBC, initial and average dose of 6-mercaptopurine (6-MP) were collected. Results In this study, we found 4 patients with TT genotype, 31 patients with CT genotype and 98 patients with CC genotype; and there is a difference in genotypes between the two groups in initial stage (P=0.007) and in maintenance therapy stage (P=0.005). In maintenance therapy stage, patients with TT genotype received a lower dose of 6-MP than that for patients with other genotypes (P<0.01). Conclusions The polymorphism of rs116855232 in NDUT15 gene was associated with leucopenia induced by 6-mercaptopurine in children with ALL, and patients with TT genotype were suggested to use a lower dose of 6-MP to avoided serious leucopenia.
    Analysis of clinical phenotype and genetic diagnosis in patients with Omenn syndrome
    YUAN Jiantao, LEI Ting
    . 2018, 36(2):  117.  doi:10.3969/j.issn.1000-3606.2018.02.007
    Abstract ( 523 )   PDF (1576KB) ( 233 )  
    Related Articles | Metrics
     Objective To investigate the clinical features and genetic change of Omenn syndrome. Method Clinical data of two sporadic patients with Omenn syndrome and their family members were collected, and next generation sequencing was used to analyze immunodeficiency associated genes. Results Two patients (one boy and one girl) had a history of recurrent infection and skin rash. The level of IgA, IgM and IgG was decreased. Both of them have a lower level of CD8+ T lymphocytes and CD19+ B lymphocytes, but the number of NK cells increased. Sequencing found a homozygous mutation (c.1211G>A) in RAG1 gene in the girl, and both her father and mother were heterogeneous carrier of this mutation. In the boy, we found novel compound heterozygous mutations, c.830A>G and c.104G>C in RAG2R gene, inherited from his mother and father, respectively. Bioinformatics predicts that these two mutations are likely to be pathogenic. Conclusions The age of Omenn syndrome onset was earlier, with compromised immunological function. Gene detection was helpful for early diagnosis. We found that two novel mutations in RAG2R could cause Omenn syndrome.
    Neonatal inflammatory bowel disease:  a report of 2 cases with literature review
    . 2018, 36(2):  121.  doi:10.3969/j.issn.1000-3606.2018.02.008
    Abstract ( 655 )   PDF (1523KB) ( 291 )  
    Related Articles | Metrics
    Objective To investigate the clinical characteristics of neonatal inflammatory bowel disease (IBD). Methods The clinical data of two neonates diagnosed with IBD. Clinical manifestation, laboratory examination, imaging, endoscopy and histopathological findings, treatment plan and prognosis were included. Results The clinical manifestations were fever, diarrhea, oral ulcer in two cases of neonatal IBD in this study. Laboratory findings showed inflammatory indicators (such as white blood cells, C-reactive protein) increased mainly accompanied by decreased hemoglobin, platelet, plasma albumin and other indicators. Endoscopic and pathological manifestations were significantly different in ulcerative colitis (UC) and Crohn disease (CD) children. The lesions range of UC patients were mainly sigmoid colon, and CD patients ileocecal. Conclusions For neonates with highly suspected IBD,  positive endoscopy and gene detection are recommended. Early diagnosis and standard treatment are important. For children with refractory IBD with IL-10 and IL-10 receptor gene mutations, hematopoietic stem cell transplantation is feasible and could improve its prognosis.
    Clinical investigation of aortopulmonary collateral arteries
     YANG Yan,YU Geng
    . 2018, 36(2):  126.  doi:10.3969/j.issn.1000-3606.2018.02.009
    Abstract ( 436 )   PDF (2820KB) ( 444 )  
    Related Articles | Metrics
    Objectives To investigate the clinical manifestation and distribution characteristics of aortopulmonary collateral arteries (APCAs) without cyanotic congenital heart defect, and to analyze the reason of misdiagnosis. Methods The clinical data of 137 APCAs patients without cyanotic congenital heart defect in our hospital from April, 2009 to October, 2010 were reviewed. Clinical characteristics, radiographic findings were analyzed. Results In 137 patients, 99 were combined with pulmonary diseases, 115 cases with heart diseases. Six cases were misdiagnosed in 137 patients. Three cases were misdiagnosed as patent ductus arteriosus. One case was misdiagnosed as cardiomyopathy. One case was misdiagnosed as pulmonary tuberculosis. One case was prolonged the time of antituberculosis therapy because of the lung lesion. There were 130 APCAs (94.9%) originated from descending aorta, five (3.6%)  from subclavian artery, one (0.73%) from intercostals artery, one (0.73%)
     from vertebral artery. Conclusions APCAs exist in the patients without cyanotic congenital heart defect, and APCAs will be narrowed and blocked gradually after birth. However, certain predisposing factors sustain APCAs and increase the pulmonary flow. Patients with APCAs combined with pulmonary disease or heart diseases may be misdiagnosed or diagnosed as a specific disease. Early diagnosis and treatment is critical to prognosis.
    Acute myelitis with positive GM1 antibodies in children: a report of two cases
     QIE Di, CAI Xiaotang
    . 2018, 36(2):  131.  doi:10.3969/j.issn.1000-3606.2018.02.010
    Abstract ( 612 )   PDF (1380KB) ( 277 )  
    Related Articles | Metrics
    Objective To investigate clinical characteristics and treatment of acute myelitis in children. Methods Clinical data and prognosis of two cases of pediatric acute myelitis with positive serum monosialoganglioside (GM1) antibodies were analyzed, and related literatures were reviewed. Results Two cases had clinical symptoms and MRI change of myelitis with positive serum GM1-IgM antibody and thyroid antibody. Two cases had positive serum Helicobacter pylori IgG antibody and one case has positive Mycoplasma pneumoniae IgM antibody. After treated with high doses of glucocorticoid and gamma-globulin, two cases were discharged as symptoms improved. After discharged, treatment with oral prednisone and rehabilitation were continued. One case recovered completely while another could stand alone by supporting after 3 months follow-up. Conclusion Immunologic injury played an important role in pathogenesis of acute pediatric myelitis with serum positive GM1 antibodies, which had better treatment outcome and prognosis. This type of myelitis may have intestinal Helicobacter pylori infection.
    Clinical and genetic analysis in a patient with type 4 Aicardi-Goutières syndrome
     ZHANG Xiaoli, HAN Rui, LI Xiaoli, WANG Lijun, CHEN Hao, JIA Tianming
    . 2018, 36(2):  134.  doi:10.3969/j.issn.1000-3606.2018.02.011
    Abstract ( 364 )   PDF (1850KB) ( 277 )  
    Related Articles | Metrics
    Objective To explore the clinical characteristics, imaging and genetic features of Type 4 Aicardi-Goutières syndrome (AGS). Methods The clinical data were collected, genetic changes were tested using next generation sequencing, and relevant literatures were reviewed. Results A 5 months old girl present with recurrent fever, intelligence and motor developmental delay, epilepsy, microcephaly, spasticity, cerebrospinal fluid pleocytosis. Brain MRI displayed cerebral atrophy and white matter lesions. Brain CT displayed intra-cranial multiple calcifications. Two missense mutations were identified in RNASEH2A, c.199G>C was a novel mutation, and c. 322C>T was a known pathogenic mutation. Conclusions RNASEH2A gene mutations can lead to type 4 AGS.
    Hexokinase deficiency: a case report with literature review
    Xiadaiti?Yisilapile,ZHOU Lin, CAI Bin, LEI Lei, GAN Lu, JIANG Jinjin
    . 2018, 36(2):  138.  doi:10.3969/j.issn.1000-3606.2018.02.012
    Abstract ( 336 )   PDF (1338KB) ( 193 )  
    Related Articles | Metrics
    Objective To explore the clinical characteristics and gene analysis of hexokinase deficiency (HKD). Methods Clinical symptoms, hemolysis, laboratory findings and gene analysis of a boy with HKD in our department were retrospectively analyzed, and the literatures of HKD were reviewed. Results The patient was a six months old boy presented with neonatal hyperbilirubinemia, nonspherocytic hemolyticanemia, and increased proportion of reticulocytes. Genetic testing found two compound heterozygous mutations in HK1: c.995+5G > A (intron 12) inherited from father and c.2216G C (exon 20) inherited from the mother. In the literature, clinical features of the HKD patients were mainly anemic, neonatal jaundice and hepatosplenomegaly, and the gene detection mainly includes point mutation in HK1 gene exon and intron nucleotide. Conclusions  In the case with neonatal anemia, jaundice, increased indirect bilirubin, HKD should be considered. Gene analysis can be used for early diagnosis.
    Clinical features and mutation of STK11 gene in four patients with Peutz-Jeghers syndrome
     HUANG Juan1 ZHAO Peiwei, HUANG Minjie, HUANG Yufeng, ZHANG Wen, HE Xuelian
    . 2018, 36(2):  142.  doi:10.3969/j.issn.1000-3606.2018.02.013
    Abstract ( 518 )   PDF (1460KB) ( 329 )  
    Related Articles | Metrics
     Objective To investigate  clinical features of  Peutz-Jeghers syndrome (PJS) and genetic change in STK11. Methods Clinical data and genetic change in STK11 gene of four PJS children were retrospectively analyzed. Results Four patients have hyperpigmentation on their lips, buccal mucosa or fingers. Intestinal polyposis was found at different locations of gastrointestinal tract. Polypectomy was performed in four patients and pathological section displayed the muscle fibers of the muscularis mucosae form a dendritic structure. And we found 4 heterozygous mutations (c.582C>A,c.580G>A,c.719C>G and c.879insA) on STK11 gene  in these patients. Conclusions The PJS patients have typical clinical features; gene detection is helpful to early diagnosis, and we found a novel mutation (c.879insA)  in STK11 gene.
    Research progress on community-acquired respiratory distress syndrome toxin
    SONG Xiaodan
    . 2018, 36(2):  145.  doi:10.3969/j.issn.1000-3606.2018.02.014
    Abstract ( 453 )   PDF (1161KB) ( 224 )  
    Related Articles | Metrics
     The Community-Acquired Respiratory Distress Syndrome toxin (CARDS TX) is one of the most important toxins produced by the Mycoplasma pneumoniae. The synthesis, distribution and bioactivity of this toxin have been gradually studied. It has been shown that CARDS TX has impact on the inflammation induced by Mycoplasma pneumoniae infection, and poorly controlled asthma. With further study on the pathomechanism of the CARDS TX, it would become a new key in arriving early or confirmed diagnosis and treatment about Mycoplasmal pneumonia.
    Progress on minimal residual diseases in childhood solid tumor
     ZHAO Jie
    . 2018, 36(2):  149.  doi:10.3969/j.issn.1000-3606.2018.02.015
    Abstract ( 352 )   PDF (1181KB) ( 337 )  
    Related Articles | Metrics
     Minimal residual disease (MRD) is a major cause of solid tumor relapse, which refers to the small number of malignant cells remained after therapy that cannot be detected by conventional imaging examination and morphological examination. Whereas flow cytometry and polymerase chain reaction based methods constitute the two most commonly used techniques for MRD detection. Next generation sequencing will certainly be widely employed in individual MRD detection by testing on specific genetic change in the future. This article is to review the progress on MRD detection methods in childhood solid tumor.