Table of Content

15 May 2017 Volume 35 Issue 5

  

Study on the clinical outcomes of children with stage Ⅳ malignant extracranial germ cell tumors

YAN Qianghua,TANG Jingyan,PAN Ci,YE Qidong,ZHOU Min,GAO Yijin,HU Wenting

. 2017, 35(5):  321.  doi:10.3969/j.issn.1000-3606.2017.05.001

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　Objective　To evaluate the outcomes of children with stage Ⅳ malignant extracranial germ cell tumors. Methods　Twenty-five patients were enrolled in the retrospective analysis. Event-free survival (EFS) and overall survival (OS) rates were estimated by Kaplan-Meier method with SPSS 13.0. Results　Of the 25 children, there were 13 males and 12 females. The mean age at diagnosis was 2 years old (ranged 1 to 11). Five patients receiving chemotherapy in another hospital before (n=1), or giving up treatment after confirmed diagnosis (n=1), or giving up effective treatment after received less than 2 cycles (n=3) were excluded from this analysis. Of the 20 patients, 90.0% (18/20) achieved complete remission and 5.0% (1/20) achieved partial remission after treatment. The 5-year EFS rate and 5-year OS rate were 70.0%±10.2% and 82.4%±9.2% respectively. There was no death occurred due to complications. Conclusions　The effect of this treatment program is positive. The cumulative dose of the drugs is not high, compared with other schemes such as PEB, but there are more drugs involved. Whether these drugs may cause long-term adverse reactions needs further research.

Effect of chemotherapy regimen CCLG-ALL-2008 on children with TEL/AML1 fusion gene positive of acute lymphoblastic leukemia

　GAO Jing，HU Shaoyan，LU Jun，HE Hailong，WANG Yi，ZHAO Wenli，LI Jianqin，LI Jie，XIAO Peifang，FAN Junjie，CHAI Yihuan

. 2017, 35(5):  325.  doi:10.3969/j.issn.1000-3606.2017.05.002

Abstract ( 993 )   PDF (1456KB) ( 395 )  

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Objective　To evaluate the predictive role of TEL/AML1 fusion gene in protocol CCLG-ALL-2008 and to identify relevant factors influencing the outcome of ALL with TEL/AML1 fusion gene. Methods　Ninety-nine patients with ALL harboring TEL/AML1 fusion gene (positive) and 329 cases without any specific fusion genes (negative) at diagnosis of B-lineage ALL from June 2008 to December 2014 were enrolled and their clinical and biological features were analyzed. Following-up ended in October 2015, the survival status was calculated by K-M curve and prognostic factors were analyzed by COX model. Results　There were no differences between the two groups in age, white blood cell at the diagnostic stage, and treatment responses at 4 time points, namely, prednisone good response on day 8, M3 status of BM on D15, and the minimal residual disease (MRD) more than 1.0×10-3 on day 33 and 12th week. During the follow-up period, the relapse rate was lower in the positive group than that in the negative group (14/99 vs 69/329), the mortality rate of the negative group was twice of that in the positive group (55/329 vs 8/99). The five-year overall survival (OS) rate, relapse-free survival (RFS) rate and event-free survival (EFS) rate of the positive group were (86.1 ± 4.9)%, (80.7 ± 5.1)% and (78.9 ± 5.1)%, respectively, and (79 ±2.8)%, (72± 3.1)%, and (69.6+ 3.1)% for the negative group as well. COX regression analysis indicated that relapse and MRD level at the 12th week were independent prognostic factors on OS, RFS, and EFS (P<0.05) for the two groups. Conclusions　TEL/AML1 fusion gene could be regarded as a relatively good indicator of risks in ALL children treated by CCLG-ALL-2008 protocol. ALL patients with TEL/AML1 are recommended to receive more intensive therapy including hematopoietic stem cell transplantation when the patients were high level of MRD on the 12th week after treatment.

Expression of EVI1 gene and its clinical significance in pediatric acute myeloid leukemia

ZHENG Chenyu, WEN Xianhao, GUO Yuxia, GUAN Xianmin, YU Jie, XIAO Jianwen

. 2017, 35(5):  331.  doi:10.3969/j.issn.1000-3606.2017.05.003

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Objective　To investigate the relationship between EVI1 gene expression and  clinical features and prognosis of children with acute myeloid leukemia (AML). Methods　EVI1 gene was detected in AML children, correlation of clinical and lab features, prognosis of AML children with EVI1 gene were analyzed. Results　EVI1 expression is positive in 38 of 145 children with AML. There were no significant differences in age, gender, hemoglobin concentration, leukocytes and platelet count, subtype of morphology, ratio of chromosomal anomaly and complex karyotypes between EVI1 positive and EVI1 negative group (P＞0.05); coexist genes were detected in 9 cases (23.68%) of EVI1 positive group. Rate of complete remission (CR) was 91.67% in 24 cases of EVI1 positive patients received chemotherapy. Relapse rate was 64.29% and 14.29% in EVI1 positive patients who received chemotherapy and allo-hematopoietic stem cell transplantation (allo-HSCT), retrospectively and significant differences were found (P＜0.05). There was no significant difference in CR but significant difference was found in event free survival (P＜0.05) for EVI1 positive and EVI1 negative patients who received chemotherapy. EVI1 gene kept negative when bone marrow relapse occurred in two patients with EVI1 positive at diagnosis. Conclusion　EVI1 gene may play adverse role in pediatric AML; prognosis of EVI1 positive AML patients can be improved by allo-HSCT; follow-up of EVI1 transcript levels is insufficient to monitoring of minimal residual disease.

Characteristics and prognosis of parvovirus B19 infection in Pediatric leukemia patients in Suzhou

　LU Ye, HU Shaoyan, HE Hailong, LIU Suxiang, KONG Lingjun, FAN Junjie, XIAO Peifang

. 2017, 35(5):  336.  doi:10.3969/j.issn.1000-3606.2017.05.004

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Objective　To explore the effect of parvovirus B19 (VB19) infection on pediatric leukemia patients. Methods The pediatric leukemia patients were enrolled in the study in the Children's Hospital of Soochow University. Expression levels of VB19-DNA-PCR were detected using the polymerase chain reaction. Positive patients would be monitored and treated by conventional treatment as well until VB19 gene became negative. The data was compared according to the VB19 clearance time, clinical symptoms and blood counts to evaluate the effect. Results　In the 3009 samples from 824 pediatric leukemia patients, there were 36 samples (1.2%) from 12 cases (1.5%) of pediatric leukemia paients with positive VB19 infection. Among the positive patients, 11 cases (1.9%) were from 582 with acute lymphoblastic leukemia (ALL) patients and 1 (0.45%) was from 212 with acute myeloid leukemia (AML). According to the treatment stage, 3 cases were in initially diagnosed period, 2 cases in early stage of consolidation chemotherapy, 4 cases in delayed enhanced chemotherapy period, and 3 cases in maintenance chemotherapy period. According to the treatment response, 4 cases were in continuous treatment, 2 cases were sensitive to treatment, and 3 cases were drug resistant. In the drug resistance group, 2 cases developed into the pure red cell aplastic anemia (PRCA). After treatment, one was recovered from PRCA with VB19 cleared, the other one remained PRCA with continuously positive VB19. Conclusions　More VB19 virus infection in pediatric ALL happened in delayed enhanced chemotherapy period. The persistent presence of VB19 infection on pediatric leukemia patients is closely related with PRCA.

Clinical significance of receiver operating characteristic curve analysis in the screening of thalassemia

　XIA Chaoran, HUANG Ying, REN Zhaorui

. 2017, 35(5):  340.  doi:10.3969/j.issn.1000-3606.2017.05.005

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　Objective　The aim of this study was to evaluate the application of receiver operating characteristic (ROC) curve of biochemical indexes of blood for HbF and HbA2 on the screening and diagnosis of thalassemia in children. Methods　The traditional methods (cellulose acetate membrane electrophoresis and single one minute alkaline denaturation) as well as HPLC were used to quantitatively detecting HbF and HbA2 in 200 thalassemic cases and 62 normal controls. With DNA analysis as a golden standard for thalassemia diagnosis, ROC was applied to evaluate the indicators of HbF and HbA2 including areas under the curve (AUC), sensitivity and specificity after different cut-off values chosen. Results　In α- and β-thalassemia groups, all of AUC of HbF and HbA2 quantified by HPLC were higher than that detected by the classical method. In the β-thalassemia group, the AUC of HbA2 quantified by HPLC showed the greatest value (0.991). The coincidence rate, sensitivity and specificity of the combined screening scheme of the cut-off value HbF (≥1.05%) and HbA2 (≥3.75%) analyzed by ROC were 99.2%, 99.0%, and 100%, respectively. Conclusions　It is suggested that the combined screening scheme, the cut-off value of HbF (≥1.05) and HbA2 (≥3.75) measured by HPLC, together with the related hematological indexes, may be applied to the large-scale screening of β-thalassemia. This scheme can improve the sensitivity, coincidence rate and screening efficiency. The internal quality control for the detective process ensured the accuracy and reliability of the results, and reduced the misdiagnosis rates.

Clinical analysis of 81 children with urinary system injury after hematopoietic stem cell transplantation

　CHEN Ruyue, TANG Hanyun, CHEN Qing, FENG Yajun, SHEN Yunyan, XU Qinying, ZHU Yun, ZHU Xueming, LI Xiaozhong

. 2017, 35(5):  345.  doi:10.3969/j.issn.1000-3606.2017.05.006

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Objectives　To investigate the etiology, renal pathology, treatment, and prognosis of children’s urinary system injury after hematopoietic stem cell transplantation (HSCT). Methods　Clinical data of 81 children with urinary dysfunction after HSCT admitted to the Hematology Department in Children’s Hospital of Soochow University were analyzed, and relevant literatures were reviewed. Results　In 81 cases (50 males and 31 females), the age ranges from 8 months to 17 years old. Thirty cases (37%) with prerenal injury were recovered after active rehydration and other symptom specific treatment. There were 9 (11.1%) children with renal injury, four cases were given up therapy or transferred to other hospitals, thus lead to an unknown prognosis. Kidney biopsy was performed in the remaining five cases for pathological investigation. After active symptom-speific and etiology-based treatment,  serum creatinine and glomerular filtration rate of four cases return to normal. But in the long-term follow-up，one case died of recurrence of primary disease, reinfusion of hematopoietic stem cell combined with renal failure. The remaining 3 patients were with chronic kidney disease (CKD). One case with renal thrombotic microangiopathy was in the chronic dialysis. Postrenal renal injuries were mainly hemorrhagic cystitis (28.4%) and urinary tract infection (16%). After a large dose of rehydration, urine alkalization and anti-infection therapy, they were recovered in the short term with a good prognosis. Conclusions　Urinary injury after HSCT is mainly divided into three categories: prerenal, renal and postrenal, in which renal injury is prone to frequent recurrence.

Characteristics and risk factors of blood transfusion in 180 very low birth weight infants

JIANG Qinglian, ZHANG Zhihong

. 2017, 35(5):  350.  doi:10.3969/j.issn.1000-3606.2017.05.007

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Objective　We aimed to study the characteristics and risk factors for blood transfusion in very low birth weight infants (VLBWI). Methods　Clinical data of 180 VLBWI, hospitalized from January, 2012 to June, 2016, were studied retrospectively. The infants were divided into two groups according to whether blood transfusion is administered or not. Two groups were compared with general information, diseases in hospital and treatment taken. Results　Of the 180 VLBWI, 118 cases (65.6%) were diagnosed with anemia when hospitalized. 57 cases (31.7%) needed blood transfusion with a mean gestational age of 30.3±1.9 weeks and a mean birth weight of 1233.3±123.7 g, The first time to blood transfusion ranged from 2 to 5 weeks after birth, transfusion volume 20ml/Kg once. Fourty-eight (48) cases (84.2%) only took blood transfusion once. Birth weight, gestational age, basal hemoglobin, hematocrit, volume of blood taking before transfusion, duration of hospitalization, duration of continuous positive airway pressure, duration of paraenteral nutrition, duration of vasoactive drugs used, need for intubation、delivery mode, neonatal respiratory distress syndrome, apnea, neonatal hypothyroidism and patent ductus arteriosus showed significant difference between the two groups. Logistic regression analysis revealed that gestational age, birth weight, basal hemoglobin, long duration of hospital stay and blood loss from laboratory testing were risk factors for blood transfusion in VLBWI (P＜0.05). Conclusions　The rate of blood transfusion in VLBWI was relatively high. Complex complications, critical condition, blood loss from laboratory testing and basal hemoglobin were main risk factors for blood transfusion.

A rare double trisomy 47，XXX/48，XXX，+8 combined Behcet disease：A case report and review of literature

LI Xin, CHENG Qing，DING Yu，LI Juan，YING Lei，ZHOU Yunfang，WANG Xiuming, WANG Jian

. 2017, 35(5):  355.  doi:10.3969/j.issn.1000-3606.2017.05.008

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　Objective　To investigate the characteristics and essential points of diagnosis and treatment of double trisomy 47，XXX/48，XXX，+8 combined Behcet disease, a rare inherited immunodeficiency disorder. Methods　The clinical manifestations, karyotype analysis and gene test results of the patients were analyzed, and relevant literatures were reviewed. Results　A 11-year-old girl presented repeated fever for more than 6 years, accompanied with recurrent genital herpes infection and oral apthosis, was clinically diagnosed with Behcet disease. Cytogentic and molecular karyotyping on peripheral lymphocytes demonstrated 47，XXX[12]/48，XXX，+8[18]. Conclusions　Conventional karyotype analysis and chromosomal microarray analysis have a complementary role in the diagnosis of the disease. We conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behcet disease. The mechanism may relate to increased gene dosage of candidate genes for  Behcet’s disease on chromosome 8.

Clinical analysis of methylmalonic acidemia in 21 children

LI fan, QIAO Junying, ZHAO Jianchuang, HUANG Xianjie, WANG Na

. 2017, 35(5):  359.  doi:10.3969/j.issn.1000-3606.2017.05.009

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　Objective　To explore the clinical features of methylmalonic acidemia (MMA) in children admitted to the pediatric intensive care unit, to help improve our understanding of MMA. Methods　The clinical data of 21 patients with MMA admitted to our PICU from December 2012 to August 2016 were analyzed. Diagnosis were confirmed by gas chromatographymass spectrometry, GC/MS. Results　twenty-four of 158 suspected cases were confirmed as having organic acidemia diseases including 21 cases of MMA, one case of propionic acidemia, one case of urea cycle disorders, and one case of glutaric acidemia. The main clinical manifestations were feeding difficulty, malnutrition (13 cases), developmental retardation (12 cases), lethargy (10 cases), tricuspid severe reflux and pulmonary hypertension (1 case), hydrocephaly (5 cases), muscular dystonia (three cases with hypertonia, and four with hypotonia), convulsion (7 cases), apnea, sobbing respiration (10 cases), chromatosis (6 cases), anemia (13 cases), edema (6 cases), thrombocytopenia (6 cases), hematuria and proteinuria (2 cases). Five cases gave up therapy before diagnosis was made. Sixteen cases received the treatment with Vitamin B12 and supplementation of L-carnitine. Seven cases gave up after treatment without effect or deterioration of condition. Eight cases were vitamin B12-responsive, and one case was vitamin B12-nonresponsive. The follow-up for a period ranging from three months to two years, among eight vitamin B12responsive cases, 6 cases showed a favorable outcome with apparent improvement, one case had no symptom and one patient died from severe pneumonia. Vitamin B12-nonresponsive case was still alive. Conclusions　The clinical manifestations of MMA are non-specific. Urine organic acid analysis is critical to early diagnosis of MMA in high-risk patients. Timely diagnosis and appropriate long-term treatment are essential to improve the prognosis of the disease.

Arthritis as the initial manifestation in children with tuberculosis：clinical analysis of five cases

　GUO Yihong, YU Haiguo, LI Juan, ZHANG Yayuan

. 2017, 35(5):  363.  doi:10.3969/j.issn.1000-3606.2017.05.010

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　Objective　To explore the diagnosis and treatment of five children with tuberculosis with arthritis as the initial manifestation. Methods　The clinical features, laboratory tests and imaging manifestation of 5 children with joint tuberculosis were retrospectively analyzed. Results　The course of disease was different. All the five patients were males (mean age 8.5 ±2.9 years old) and suffered from articular symptoms as initial feature. Four of them were diagnosed and treated as rheumatoid arthritis by other hospitals for up to three years,  two patients have tuberculosis contact history, and another two patients were found with bone destruction, and one patient has pathologic fracture. Conclusions　Tuberculosis is easily misdiagnosed as juvenile idiopathic arthritis , which deserves attention from a pediatric rheumatology physician.

Pathogenic bacteria distribution and drug resistance of children with purulent meningitis

HU Wei, WANG Bingyuan, LI Jian, REN Qian, XU Daoyan, Wang Shifu, NIE Xiuzhen, LIN Aiwei

. 2017, 35(5):  366.  doi:10.3969/j.issn.1000-3606.2017.05.011

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　Objective　To explore pathogenic bacteria distribution and drug susceptibility testing results in children with purulent meningitis in Jinan area. Methods　A total of 54 children with purulent meningitis were selected from January 2010 to December 2014, the cerebrospinal fluid smear and culture, according to the national standard of clinical inspection technology for bacteria isolation and identification by disc diffusion method for drug sensitive test were retrospectively analyzed. Results　 A  total of 54 strains of pathogenic bacteria including 36 strains of gram-positive coccus, and 17 strains of gram-negative bacillus and one strain of suspected Neisseria meningitides were found. A total of 31 strains gram positive coccus is Streptococcus pneumoniae, and most gram-negative bacilli is E. coli. In the Gram-positive coccus, 61.3% was sensitive to penicillin, and more than 90% was sensitive to ceftriaxone and cefepime, 83.3% was sensitive to meropenem, 94.7% resistant to azithromycin, and 58.1% resistant to oxazocilline. In Gram-negative bacilli, 60% was sensitive to ampicillin sulbactam 71.4% was sensitive to cephalosporin , 57.1% was sensitive to ceftriaxone , 66.6% was sensitive to cefepime. Conclusions　From cerebrospinal fluid cultured of purulent meningitis, Streptococcus pneumoniae and E. coli were major pathogenic bacteria in children with purulent meningitis in Jinan area.

Congenital muscular dystrophy type 1A: a report of one case with literature review

JIANG Shiyuan，XIANG Na

. 2017, 35(5):  369.  doi:10.3969/j.issn.1000-3606.2017.05.012

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Objective　To investigate the clinical features and genetic tests of a case with congenital muscular dystrophy type 1A (MDC1A). Methods　Clinical data of proband were collected, and genetic change were tested using next generation sequencing, and literatures pertinent to the epidemiology, mechanisms, especially genetic testing of  lisencephaly were reviewed. Results　A 5 year and 2 month old boy present with normal intelligence and delayed motor development, he can be sit alone but not walk at two years old. Physical examination showed normal mental reaction, muscular dystrophy, hypotonia, and joint contracture at early age. From biochemical tests, we found creatine kinase (CK) and CK-MB were increased (491U/L, 41.8U/L). EMG test suggested possible muscle-derived damage. Brain MRI showed white matter abnormality. And a heterozygous mutation (c.2045-2046delAG) inherited from his mother in LAMA2 gene, and another novel heterozygous mutation (del Exon5) inherited from his father were identified by genetic test. Conclusions　LAMA2 gene deficiency can lead to MDC1A, and gene testing can help diagnosis.

Meta-analysis of pregnancy induced hypertension with risk of morbidity in congenital heart diseases

MA Li

. 2017, 35(5):  372.  doi:10.3969/j.issn.1000-3606.2017.05.013

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　Objective　Systematical evaluation of studies published abroad on pregnancy induced hypertension and incidence of congenital heart diseases (CHDs), to investigate the relationship between pregnancy induced hypertension and the risk of CHDs morbidity. Methods　Studies of pregnancy induced hypertension and CHDs were identified by searching major electronic databases (PubMed, Elsevier and Web of Science) by the medical subject headings and keywords without language restriction. Stata was conducted to determine the risk of CHDs related to pregnancies induced hypertension. Results　Thirteen (13) case-control and 10 cohort studies were identified. Pregnancy induced hypertension was associated with an increased risk of CHDs morbidity (RR=1.65，95%CI: 1.50~1.83). Subgroup analysis showed that both of the pregnancy hypertension treated group and the untreated group increased the risk of CHDs morbidity (RR=2.11，95% CI: 1.72~2.58; RR=1.61，95% CI：1.34~1.94). Calcium channel blockers, adrenergic receptor blockers and diuretics did not increase the risk of CHDs morbidity (P＞0.05), β-blockers and angiotensin-converting enzyme inhibitor increased the risk of CHDs morbidity (P＜0.05). Conclusions　 Pregnancies induced hypertension increased risk of CHDs morbidity.

Toxicity and management in chimeric antigen receptor T-cell therapy

HU Guanhua

. 2017, 35(5):  384.  doi:10.3969/j.issn.1000-3606.2017.05.015

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T cells can be genetically modified to target tumors through the expression of a chimeric antigen receptor (CAR). Most notably, CAR T cells have demonstrated its clinical efficacy in hematologic malignancies with evident responses when targeting solid tumors. However, CAR T cells therapy also has the capacity to elicit expected and unexpected toxicities including cytokine release syndrome, neurologic toxicity, “on target/off tumor” recognition, and anaphylaxis. Theoretical toxicities include clonal expansion secondary to insertional oncogenesis, graft versus host disease, and off-target antigen recognition. Abrogating toxicity has become a critical step in the successful application of this emerging technology. To this end, we review the reported and theoretical toxicities of CAR T cells therapy and strategies to cope with it.

Role and mechanism of eosinophils in the pathogenesis of atopic dermatitis

XU Qianyue

. 2017, 35(5):  389.  doi:10.3969/j.issn.1000-3606.2017.05.016

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Atopic dermatitis (AD) is a chronic and recurrent inflammatory skin disease. Multiple studies have demonstrated a significant correlation between the eosinophil (EOS) and AD. Th2 cells secret cytokines and chemokines mediating the activation, differentiation and growth of EOS. EOS is recruited from bone marrow and blood into the dermis, and releases granule proteins, cytokines etc., resulting in the deposition of collagen and fibrosis thickening. This article reviews the recent studies of the main role and mechanism of EOS in the pathogenesis of AD, aiming to a further understanding of this disease and provides insights for the development of new drugs.

Progress on saliva tests in diagnosis and treatment of pediatric diseases

NI Xinqiang, ZHANG Xiaoli, LI Limin

. 2017, 35(5):  394.  doi:10.3969/j.issn.1000-3606.2017.05.017

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　Currently, saliva tests have been regarded as a potential promising diagnotic tool because of its noninvasiveness, quickness and simplicity, high accuracy, fullness of biomarkers, and other advantages. It has been applied in clinical diagnosis, treatment evaluation, epidemiological survey and other clinical works, while its potential applications have not yet been fully recognized by Chinese pediatrician. This review presents an overview on the application of salivary diagnostics in pediatrics ophthalmology and otorhinolaryngology, immune system diseases, nervous-mental system diseases and other system diseases, and offers a new potential research strategy for accurate diagnosis and treatment of pediatric diseases.