1.Social service of digital resources in libraries of medical colleges and universities
Chunfeng WANG ; Yi LIU ; Hengjuan ZHANG ; Nibo LIU
Chinese Journal of Medical Library and Information Science 2014;(10):26-29
The factors influencing the social service of digital resources in libraries of domestic medical colleges and universities and the experiences with rationally optimized service in regional library colleagues were analyzed according to the introduction of foreign digital resources, development of characteristic databases, and opening of such databases to the public, with measures put forward for improving the social service of digital resources in li-braries of domestic medical colleges and universities.
2.Diagnostic value of 43 fusion gene screening in the childhood hematological neoplasma
Min XIA ; Yue ZHENG ; Hengjuan SUN ; Chengkan DU ; Jingwei YANG ; Huan WANG ; Hong LI ; Hong ZHANG
Chinese Journal of Laboratory Medicine 2018;41(2):122-125
Objective To evaluate the diagnostic and prognostic significance of 43 fusion gene screening in combination with immunophenotyping and cytogenetics in childhood hematologic neoplasms. Methods A total of 176 children from Shanghai Children′s hospital with acute leukemia newly or recurrently diagnosed from May.2015 to Apr.2017 were enrolled into this study.There were 99 males and 77 females,aged between 4 months to 15 years old.Application of real-time fluorescent probe PCR assay for detection of 43 fusion genes including the common type of BCR-ABL,AML1-ETO, CBFβ-MYH11, MLL and RaRα related fusion genes in ALL(Acute lymphoblastic leukemia)and AML(Acute myeloid leukemia).Results The fusion genes were detected at positive rate of 28.4 %(50/176).The final diagnosis included 110 cases of ALL-B,11 cases of ALL-T and 46 cases of AML,the other 9 cases were as follows:1case of neuroblastoma,2 cases of NHL -B,1case of NHL -T,1case of AML transformed from CML,2 cases of M DS,1 case of CML and 1 case of anemia.Positive fusion gene of ALL -B(27/110, the positive rate of 24.5%),included:TEL-AML1 14 cases,E2A-PBX1 6,MLL-AF10 2 and MLL -AF4 2,MLL-AF9 1,MLL -ENL 1 and BCR-ABL 1 cases.ALL -T positive rate 27.3%(3/11):1 case with MLL-ENL and 2 cases of SIL -TAL1.In AML patients the positive rate was 37%(17/46), included AML-ETO 7,MLL -AF10 1, MLL -AF10 1, PML-RaRa 4, DCK -CAN 3and CBFB -MYH11 1 case respectively.The other included BCR-ABL 2 cases, E2A-PBX1 1 case.Conclusion The 43 fusion gene screening contribute to leukemia diagnosis and differential diagnosis, which helps to evaluate the risk stratification and prognosis effectively.
3.Influencing factors of the male children with autism spectrum disorders
Xuena XU ; Chang LIU ; Hanchu ZHANG ; Yangyang LYU ; Xin ZHOU ; Zhenxi WANG ; Yunlong DOU ; Cenghua YONG ; Yingying ZHANG ; Dandan CAI ; Hengjuan ZHU ; Shengli LI ; Baoqiang YUAN
Chinese Journal of Behavioral Medicine and Brain Science 2019;28(4):349-353
Objective To explore the influencing factors of the onset of autism spectrum disorder in male children.Methods Totally 151 male children with autism spectrum disorder were selected as case group and 119 healthy male children matched with the age of the case group in the same administrative region were taken as the control group.All children were assessed with the questionnaire for children's autism etiology and risk factors.Results (1) The differences in children having anorexia and partial eclipse (x2 =50.763,P<0.01),father's age during pregnancy (x2 =11.441,P=0.043),place of pregnancy (x2 =50.763,P<0.01),hypertension of pregnancy (x2 =5.693,P=0.026),intrauterine hypoxia (x2 =9.332,P=0.002),umbilical cord around the neck(x2 =18.483,P<0.01),parents smoking and drinking history during pregnancy (x2 =13.660,P=0.008),parental smoking (x2 =12.901,P=0.005) and alcohol consumption (x2 =8.386,P=0.039) during pregnancy,birth height of child (x2 =8.870,P=0.031),amniotic fluid pollution (x2 =4.561,P=0.043),participation time of artificial feeding,major caregivers,delayed development indicators in infants and young children and whether or not the harmonious parent-child relationship were statistically significant(P<0.05).(2) Children with anorexia and partial diet (OR =12.284,95% CI =2.768-54.507),living in rural areas during pregnancy (OR =17.251,95% CI =1.899-1 56.745),parents' history of smoking and drinking (OR =6.191,95% CI =1.678-22.838),and intrauterine hypoxia during pregnancy (OR=38.859,95%CI=2.944-512.930) may be risk factors for male autism spectrum disorder.Conclusion To correct children's anorexia bias,improve the living environment in pregnancy,reduce pregnancy complications and avoid exposure to tobacco and alcohol pollution during maternal pregnancy can be an effective entry point for the prevention and control of autism spectrum disorders in male children.
4.Molecular cytogenetics and clinical features analysis of children with acute lymphoblastic leukemia: a single-center study
Qing LIU ; Hui JIANG ; Hong LI ; Jingbo SHAO ; Kai CHEN ; Min XIA ; Hengjuan SUN ; Zhen WANG ; Na ZHANG ; Jiashi ZHU
Chinese Journal of Applied Clinical Pediatrics 2020;35(15):1152-1156
Objective:To analyze the relationship between molecular cytogenetic abnormalities and clinical characteristics of acute lymphoblastic leukemia (ALL) in childhood .Methods:A total of 403 patients newly diagnosed with ALL in the Department of Hematology, Shanghai Children′s Hospital from January 2009 to December 2018 were enrolled in this study.All the patients had completed the test of bone marrow smear cytology, immunotyping, karyotype analysis, and fluorescence in situ hybridization (FISH).Results:(1)There were 240 males (59.6%) and 163 females (40.4%) aged (5.31±3.46)years.There were 374 patients(92.8%) with B cell acute lymphoblastic leukemia (B-ALL)and 29 patients(7.2%) with T cell acute lymphoblastic leukemia (T-ALL). (2)Cytogenetics: A total of 311 cases (77.2%) showed mitosis in the chromosomal karyotype analysis, of which 126 cases were abnormal (abnormality detection rate was 40.5%), including 15.4% (48/311cases) hyperdiploid.(3)Fusion gene: Positive fusion genes were found in 110 cases (27.3%), including TEL/AML1 gene in 70 cases (17.4%), BCR/ ABL in 13 cases (3.2%), MLL in 19 cases (4.7%). From 2015-2018, 8 cases (4.0%) of PBX1/TCF3 fusion gene, 1 case of EBF1-PDGFRB fusion gene, 6 cases of SIL/TAL1 fusion gene were detected, SIL/TAL1 positive patients which were accounting for 33.3% of T-ALL improved the detection rate of T-ALL molecular abnormalities.Patients with positive BCR/ ABL were older than those with positive TEL/AML1 and positive MLL[(8.01±3.11) years vs.(3.89±1.84) years, (1.56±1.25) years, P<0.001]; patients with positive PBX1/TCF3 [6.58±4.83) years]were older than those with positive TEL/AML1 and positive MLL (all P<0.05); patients with positive MLL were younger than those with positive TEL/AML1 [(1.56±1.25) years vs.(3.89±1.84) years, P=0.001]; the white blood cell (WBC) count of positive MLL patients was higher than that of positive TEL/AML1 and positive BCR/ ABL patients [(76.97±19.87)×10 9/L vs.(16.94±2.28)×10 9/L, P=0.002; (76.97±19.87)×10 9/L vs.(20.53±6.49)×10 9/L, P<0.05]; the WBC count of PBX1/TCF3 positive children was higher than that of positive TEL/AML1 patients [(85.75±30.32)×10 9/L vs.(16.94±2.28)×10 9/L, P=0.002]. The immunotyping of positive MLL patients was dominated by early precursor B-ALL (14/19 cases), while the immunotyping of TEL/AML1 and BCR/ABL positive patients were dominated by common-B-ALL(57/70 cases and 11/15 cases). (4)The detection rates of chromosome karyotype analysis, FISH, and polymerase chain reaction (PCR) were used to detect molecular genetic abnormalities in primary ALL patients, the detection rate was 40.5% (126/403 cases), 69.2% (279/403 cases), and 29.7% (60/202 cases), respectively.The difference was statistically significant ( P<0.001). There was no significant difference in the abnormality detection rate between chromosome karyotype analysis and PCR ( P=0.71). (5)There was no significant difference in the detection rate of molecular cytogenetic abnormalities between different genders and age groups ( P=0.651, 0.721). There was a significant difference between the WBC count ≥50 × 10 9/L group and <50 × 10 9/L group(37/51 cases vs.107/352 cases, P<0.001). The detection rate of B-ALL genetic abnormalities was higher than that of T-ALL genetic abnormalities(275/374 cases vs.14/29 cases, P=0.005). Conclusions:There are a higher proportion of hyperdiploidy chromosomes in children ALL.The distribution of fusion genes is related to age, primary white blood cell count, and immunotyping.The three detection methods complement each other and greatly improve the detection rate of genetic abnormalities.The detection rate of T-ALL genetic abnormality is low, and new detection methods may be needed.