The multiplex gene expression genetic analysis system is a novel analytical platform,characterized by its primer design with gene-specific and universal sequences.The fluorescence capillary electrophoretic separation is used to compare and analyze the expression levels of multiplex PCR products.This technology is simple,rapid,productive and cost-effective,and holds great promise for cancer classification and biomarkers discovery.

Child ; Hematology ; history ; History, 20th Century ; History, 21st Century ; Humans ; Pediatrics ; history ; Societies, Medical ; history

Objective:Previous genome-wide microarray analysis found TTCATTCT motif(DNA binding site of Runx1)in the RPL4 promoter of childhood leukemia cells,suggesting that Runx1 may regulate the expression of RPL4.This study is to investigate the relationship between Runx1 and RPL4 so as to better understand the effects of Runx1 on RPL4gene transcription,laying a foundation for further studying leukemogenesis of childhood leukemia.Methods:The luciferase plasmids containing RPL4 promoter and its mutant were constructed and were co-transfected into 293T cells with the expression plasmid of Runx1.The transactivity of RPL4 promoter was assayed by luminometer.Results:Runx1 significantly decreased the transcriptional activity of RPL4 promoter(P0.05).Conclusion:Runx1 can inhibit RPL4 gene transcription in a dose-dependent manner through binding to the TTCATTCT motif.

The clinical data of a WHIM syndrome child with cardiac malformation as the first symptom in December 2017 in Beijing Children′s Hospital Affiliated to Capital Medical University was retrospectively analyzed.A 5-year-old female patient presented with cardiac malformation, neutropenia and recurrent infection.Heterozygous mutation(c.1000C>T) was detected in CXCR4 gene.Echocardiography and CT exhibited cardiac malformation.WHIM syndrome is very rare, and it was the first case with cardiac malformation as the first manifestation in China, thus hoping to improve clinicians′ understanding of this disease.

Objective To explore the common genetic abnormalities in childhood acute lymphoblastic leukemia(ALL) and their responses to early treatment response.Methods From December of 2010 to December of 2011,169 newly diagnosed ALL patients at the Department of Hematology,Beijing Children's Hospital Capital Medical University,were detected by karyotype analysis,reverse transcription polymerase chain reaction (RT-PCR) and fluorescent in situ hybridization (FISH),and the relationship between early treatment responses and genetic abnormalities was observed.Results Of the 169 cases,bone marrow cell specimens from 162 cases were successfully cultured,with the success rate reached to 95.9％,and 88 cases (52.1％) had chromosomal abnormalities.Fifty-five cases carried 8 types of fusion genes among the 153 patients who received RT-PCR examination,and the abnormal rate was 35.9％.Forty cases applied for the detection of mixed lineage leukemia (MLL) gene rearrangement by FISH,and 6 cases of them were positive.One hundred and five cases had genetic abnormalities and the detection rate reached to 62.1％ by using three combined methods.The genetic abnormalities were classified into 6 groups,they were t(12;21),t(1;19),t(9;22),MLL rearrangement,hyperdiploid and-6/6q-,-7/7q-respectively,and early therapy response in each group was compared,and statistically significant differences were found among 6 groups (x2 =22.954,19.432,14.045,P =0.001,0.001,0.016).Conclusions Conventional cytogenetics combined with RT-PCR and FISH can enhance the detection rate of genetic abnormalities in childhood ALL.Genetic abnormalities combined with early treatment response in ALL can better guide the clinical treatment and prognosis assessment.

At present, Pediatrics textbook for international students is still in the exploring stage in China. It is necessary to make an attempt to write pediatric English textbooks by ourselves for the purpose of minimizing the gap between English original textbook and Chinese spectrum of disease, and being in accordance with teaching programs. Pediatrics English textbook should be written with excellent original English textbooks as important implications for professional resources, and adopting readable writing styles as well as multifaceted language support. Quality assurance of the textbook relies on the evaluations, and then the concrete improvement measures focusing on the significant parts of the difficulties such as author's selection, compiling style and language of textbook.

Objective:To investigate the arginine (Arg) sites in splicing factor 2/alternative splicing factor (SF2/ASF) methylated by protein arginine methyltransferase 1 (PRMT1). Methods:Wild-type and Arg93,Arg97,Arg109 mutant SF2/ASF plasmids were constructed,and GST-PRMT1,GST-SF2/ASF and arginine mutant GST-SF2/ASF fusion proteins were induced and purified. Methylation activity of PRMT1 on wild-type or mutant SF2/ASF protein and methylated sites of SF2/ASF were examined by methylation assay. The effect of SF2/ASF methylation on its subcellular localization was analyzed by immunofluorescence assay.Results:PRMT1 induced methylation of SF2/ASF at arginine,and PRMT1 did not methylate SF2/ASF when SF2/ASF was mutant at Arg93,Arg97 or Arg109,with Arg97 mutation showing the most profound inhibitory effect. Methylation of SF2/ASF did not affect its subcellular localization.Conclusion:SF2/ASF is a newly identified substrate of PRMT1; Arg93,Arg97 and Arg 109 are the three methylation sites in SF2/ASF,and Arg97 is the main methylation site. Methylation of SF2/ASF does not affect its subcellular localization.

Objective To study the current status of catheter - related thrombosis(CRT)in Chinese children through a retrospective analysis of the inpatients in the Department of Medicine,Beijing Children's Hospital Affiliated to Capital Medical University. Methods The clinical data of the inpatients with CRT from November 2010 to November 2013 were collected retrospectively,and the causes,clinical symptoms,diagnosis,treatment and prognosis were ana-lyzed. Results There were 42 cases of children with CRT in Beijing Children's Hospital Affiliated to Capital Medical University. Among the cases,the male to female ratio was 1. 0:0. 5;the median age of onset was 88(2 - 186)months with ﹤ 1 year old counted for 16. 7%(7 / 42 cases)and 13 - 14 years old counted for 11. 9%(5 / 42 cases);the distri-bution differences between the male and the female age were not significant(P = 0. 826). The median time from cathe-terization to CRT onset was 9(1 - 81)days,0 - 10 days after catheterization was the peak of onset(52. 5% ,21 / 40 ca-ses)followed by 10 - 20 days(35. 0% ,14 / 40 cases). The protopathy was usually hematologic tumor,kidney disease or deep fungal infection. Slightly more cases developed CRT on the right side(57. 1% ,24 / 42 cases)than on the left side (38. 1% ,18 / 42 cases). All cases were diagnosed by using B - ultrasound,of whom 28. 6%(12 / 42 cases)were symp-tom - free. After being diagnosed,7. 1%(3 / 42 cases)were treated with conservative methods such as immobilization of the affected limbs and hot compress;7. 1%(3 / 42 cases)had catheter removed;anticoagulant and/ or thrombolytics after catheter removal used in 33. 3% patients(14 / 42 cases). After 1 week,22 cases were reviewed,of whom 54. 5%(12 / 22 cases)had thrombosis reduced(all with intervention),thrombosis growing in 22. 7% patients(5 / 22 cases), and thrombosis did not change in 22. 7% patients(5 / 22 cases). Three cases needed re - catheterization after catheter removal,and all of 3 cases had CRT recurrences(100% ). Conclusions CRT is more common among infants and senior children. CRT usually develops within 20 days after catheterization. Children with hematologic tumor,kidney disease or deep fungal infection are more likely to have CRT. Routine ultrasound test should be conducted to monitor CRT in catheterized children. Once CRT is diagnosed,patients need to be treated with anticoagulants and/ or thrombo-lytics. Catheter should also be removed if necessary. Recatheterization can result in CRT recurrence.

Objective To discuss thk curk kffkct and sidk kffkcts of donor anti-CD19 chimkric antigkn rkckp-tor T lemphocetks(CD19 CLA-T)for trkating rkcurrknt acutk B-ckll lkuckmia aftkr allogknkic hkmatopoiktic stkm-ckll transplantation(Lllo-HSCT),and to analezk thk influkncing factors for this thkrape. Methods Thk clinical data of 5 acutk B-ckll lkuckmia patiknts wkrk analezkd rktrospkctivkle who rklapskd aftkr Lllo-HSCT and rkckivkd donor CD19 CLA-T thkrape at Bkijing Childrkn＇s Hospital from Jule 2015 to Octobkr 2017. Diskask status bkfork infusion, conditioning rkgimkn,rkinfusion ckll dosk,and sidk-kffkct of CLA-T infusion,changks in thk rklatkd immunological indicators,and follow-up trkatmknt rksults wkrk invkstigatkd. ResuIts Onk patiknt had no kffkct,othkr patiknts got rk-mission or minimal rksidual diskask(MAD)nkgativk within 4 wkkcs aftkr CLA-T infusion,and thk middlk timk was 14 daes. Pkriphkral CLA-T pkac happknkd 2 wkkcs aftkr CLA-T infusion. Be thk last follow,2 patiknts dikd of lkuckmia, 3 patiknts wkrk alivk,and 1 cask of thkm livkd with tumor aftkr CD19 nkgativk rklapsk,othkrs livkd with diskask-frkk condition. Cetocink rklkask sendromk(CAS)was thk most common sidk kffkct,happkning in 1 to 2 wkkcs aftkr infusion, 1 patiknt had nkurologic toxicitiks,and 2 patiknts had suspicious graft -vkrsus -host diskask. ConcIusions Donor CD19 CLA-T thkrape has a good short-tkrm kffkct for rklapskd B -ckll lkuckmia patiknts aftkr Lllo -HSCT,but long-tkrm kffkct rkquirks furthkr obskrvation;CAS is thk most common sidk-kffkct. Off-targkt and ckll kxhaustion ark thk main rkasons for dkfkat.

Objective: To investigate the current status of catheter-related-thrombosis (CRT) and the risk factors of Chinese acute lymphocytic leukemia (ALL) children with peripherally inserted central catheter (PICC) . Methods: The clinical data of the 116 inpatients preliminarily diagnosed ALL in the Leukemia Ward of Beijing Children’s Hospital with PICC from 1^st March 2014 to 31^st December 2014 were collected prospectively. Results: ①Refer to the B-ultrasound on the 15^th day after catheterization, the incidence of CRT was 28.4% (33/116 cases) , all cases were symptom-free. ②There were no statistical differences in terms of gender, age distribution, degree, immunotype between CRT and CRT-free groups. This study revealed no statistical differences of blood routine test items, coagulation function items, co-infection and catheterization vein between the two groups. While there was significant statistical difference of catheterization side, the frequency of right catheterization was higher in CRT group[75.8% (25/33) vs 55.4% (46/83) , P=0.043]. ③On the 15^th day after catheterization, significant statistical difference of D-Dimer between the two groups was revealed[0.18 (0.05-2.45) mg/L vs 0.11 (0.01-5.34) mg/L, P=0.001], while no statistical differences of blood routine test items and other coagulation function items. Multivariate Logistic regression analysis verified catheterization on right was a risk factor of CRT. ④During the observation, there were 3 cases of catheter-related complications other than CRT, all of which were CRI, 2 of them had CRT meanwhile. ⑤The B-ultrasound on the 33^rd day after catheterization showed that 73.1% of the cases had reduced thrombosis, 3.8% had growth thrombosis, 23.1% had no obvious change respectively. Conclusion CRT was a common catheter related complication among ALL children during induction chemotherapy, and CRT cases with symptoms were rare. Catheterization on right was a risk factor for CRT, and regular test of D-Dimer and B ultrasound contributed to detect CRT. Most of the CRT cases had reduced thrombosis without specific management.