Epidemiological study of infantile epilepsy incidence density among infants under 36 months of age in Ningbo City from 2015 to 2019 / 北京大学学报(医学版)

OBJECTIVE@#To describe the distribution and trend of infantile epilepsy among infants under 36 months in Ningbo, Zhejiang Province.@*METHODS@#Using the birth cohort design, we retrospectively collected the local born infants in Ningbo national health information platform from 2015 to 2019, and took the first visit of epilepsy in the electronic medical record of the platform as the new case. The incidence density and 95% confidence interval (CI) of epilepsy were estimated by Poisson distribution.@*RESULTS@#From 2015 to 2019, a total of 294 900 children were born in Ningbo, with male accounting for 51.92%. The total person-years of observation were 595 300, while the median follow-up person-years was 2.31 [interquartile range (IQR): 1.90]. There were 575 new onset epilepsy patients during the whole observation period. The total number of visits was 2 599, with an average of 4.52. The total incidence density was 96.59/100 000 person-years (95%CI: 88.85-104.82). The median age of onset was 13 months (IQR: 15), 0-12 months old infants had the highest incidence density (102.18/100 000 person-years), 25-36 months old infants had the lowest incidence density (89.68/100 000 person-years), and the difference was not statistically significant (P>0.05). The incidence density of male was 97.58/100 000 person-years, female was 95.53/100 000 person-years, and the difference was not statistically significant (P>0.05). Fenghua was the highest (130.54/100 000 person-years, 95%CI: 94.47-175.83) and Ninghai was the lowest (66.44/100 000 person-years, 95%CI: 47.02-91. 19), with significant difference (P < 0.05). There was no significant difference in the incidence density in different birth years (P>0.05). There was significant difference in the incidence density between 0-12 months old infants in different calendar years (Ptrend < 0.05). In this age group, the incidence density was the lowest in 2015 (69.41/100 000 person-years, 95%CI: 41.79-108.39), and the highest in 2019 (225.61/100 000 person-years, 95%CI: 186.10-271.03). There was no significant difference in the incidence density between 13-24 and 25-36 months old infants in different calendar years (P>0.05).@*CONCLUSION@#The incidence density of epilepsy in 0-36 months old infants in Ningbo City from 2015 to 2019 was low as a whole, and there was no difference in age group, gender, and year of birth. The incidence density of 0-12 months old infants increased with the year.

Study on Immunophenotypes and Gene of Acute Lymphoblastic Leukemia / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To retrospectively analyze the immunophenotyping, fusion gene and gene mutation of 30 acute lymphoblastic leukemia (ALL) cases and to investigate the relationship between the analysis results and the clinical therapeutic effect and prognosis.</p><p><b>METHODS</b>Thirty All phtients were collected from the First Hospital of Harbin, Institute of Hematology and Oncology Department of Pediatrics from August 2015 to June 2016. According to the classification of FAB standard, 27 cases were B system ALL, 3 cases were T system ALL. All patients were diagnosed by bone marrow cell morphology, immunophenotype, cytogenetics and molecular biology detetions, the differentiation antigens on membrane surface and in cytoplasm of ALL cells, and 43 kinds of fusion gene qualitative screening（BCR-ABL， AML1-ETO, PML-RARα and so on） were qualitative screened and ALL gene mutations（IKZF1, TP53, PAX5, JAK1, JAK2, CRLF2, PHF6, NOTCH1, FBXW7, PTEN）were detected by next generation sequencing(NGS).</p><p><b>RESULTS</b>(1) Among 30 ALL patients, the incidence of B-ALL(90.00%) was higher than that of T-ALL(10.00%). (2) 27 cases of B-ALL expressed CD19, CD22, CD10, CD34 and so on. CD19 and CD22 were the most diagnostic antigens of B-ALL. (3) 3 cases of T-ALL mainly expressed cCD3, CD7, CD10, cTDT and so on; cCD3 and CD7 were the most diagnostic antigens of T-ALL. (4) The quantitative screening of 30 cases of ALL 43 fusion genes found BCR-ABL,TEL-AML1 and E2A-PBX1, MLL-AF6, MLL-AF4, and SIL-TAL1 fusion gene was positive in 1 case each; NGS detection of gane mutations associated with ALL showed that: 3 cases of B-ALL found that TP53 mutation occured 3 casas of B-ALL, TET2 I1762V mutations in 1 cases, 3 patients (2 cases of T-ALL, 1 cases of B-ALL) showed NOTCH1 gene mutation. After a cycle of treatment, the efficacy of adult B-ALL treatment (28.57%) was significantly lower than that of child B-ALL (95.00%), and the survival rate of child B-ALL was significantly better than that of adult B-ALL until July 10, 2017, and the differences were significant.</p><p><b>CONCLUSION</b>The immunophenotype technology of leukemia and molecular biology has an important guiding role in the diagnosis of leukemia, selection of treatment plan and evaluation of curative effect, and it is the complement of bone marrow cell morphology diagnosis.</p>

Application of Next Generation Sequencing for AML/MDS Diagnosis and Treatment / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To detect the mutations of AML/MDS- related genes by using next generation sequencing (NGS), to analyze the mutation levels of each genes in the AML/MDS and the sensitivity of NGS, and to evaluate the feasibility of gene mutations for monitoring the MRD and predicating the progression of diseases.</p><p><b>METHODS</b>The specimens were collected from primary AML (68 cases) and MDS (57 cases) patients from August 2015 to June 2016 in the Harbin Institute of Hematology and Oncology. The mutations of 22 related genes were detected by using AML/MDS-NGS chips.</p><p><b>RESULTS</b>TET2 gene showed the highest mutation rate in AML (55.9%) and MDS (56.1%). The gene mutations were as follows: CEBPA (11.8%), DNMT3A (7.4%), C-KIT (7.4%) and FLT3-ITD (7.4%) in AML, and U2AF1 (10.5%) and SRSF2 (10.5%) in MDS. All the genes had specific mutation sites except TP53 and CEBPA. The mutations of FLT3, C-KIT and CEBPA became negative in the 5 AML patients in remission when compared with those at primary attack, but the mutation rate of TET2 gene was not obviously changed, whereas the mutation rate of the 5 MDS patients was not significantly changed. The new gene mutations appeared in 3 MDS patients with disease progression, but the mutation rate was not changed significantly in the disease progression. The gene mutation rate still has not been changed significantly even after remission.</p><p><b>CONCLUSION</b>Both AML and MDS have their own specific mutated genes and sites. Some gene mutations, such as CEBPA, can be used as an effective indicator to monitoring MRD in AML patients, but those only used for the evaluation of the disease progression and prognosis in MDS patients.</p>

An analysis on the prevalence of thyroid nodules and risk factors among residents from coastal area / 预防医学

Objective To know the prevalence of thyroid nodules among the residents from coastal area and to explore the risk factors of thyroid nodules.Methods The residents were selected by cluster random sampling method.Questionnaire interview was conducted.Thyroid ultrasound examination was performed in all subject,salt iodine,urinary iodine and the thyroid hormone including FT3,FT4,TSH,TPOAb,TGAb were measured.The groups with or without thyroid nodules were compared and the data were analyzed by univariate and multivariate logistic regression.Results The prevalence rate of thyroid nodules among the residents from coastal area of Ningbo City was 46.51%,after standardized was 41.61%. Female (OR =1.75,95%CI =1.37 -2.24),groups of aged 40 (OR =3.82,95%CI =1.70 -8.56)and aged 65(OR =5.76,95%CI =2.28 -14.54)were significantly associated with thyroid nodules.Conclusion The prevalence rate of thyroid nodules among the surveyed population was at a high level.Female and age (aged≥ 40)were risk factors of thyroid nodules.

Inhibitory effect of siRNA targeting ADAM17 on the proliferation of prostate cancer PC-3 cells / 中华男科学杂志

<p><b>OBJECTIVE</b>To study the effect of siRNA targeting ADAM17 (ADAM17-siRNA) on the proliferation of prostate cancer PC-3 cells.</p><p><b>METHODS</b>After transfecting PC-3 cells with ADAM17-siRNA 1 and ADAM17-siRNA 2, we detected the expressions of ADAM17 mRNA and protein by RT- PCR and Western blotting, respectively. We measured the changes in the proliferation and DNA synthesis of PC-3 cells by MTT and bromodeoxyuridine (BrdU) incorporation assay, examined the cell cycle profile by flow cytometry, and determined the expressions of the genes associated with PC-3 cell proliferation by Western blotting.</p><p><b>RESULTS</b>Both ADAM17-siRNA 1 and 2 effectively reduced the expressions of ADAM17 mRNA and protein in the PC-3 cells. Knockdown of ADAM17 with the two siRNAs significantly inhibited cell proliferation as compared with the control group (0.43 +/- 0.57 and 0.44 +/- 0.64 vs 0.80 +/- 0.51, P < 0.05) and down-regulated DNA synthesis (0.48 +/- 0.43 and 0.54 +/- 0.59 vs 0.79 +/- 0.72, P < 0.05). The cell cycle profile showed that the cell population of the G1 phase was markedly higher in both the ADAM17-siRNA groups than in the control ([61.83 +/- 2.41]% and [59.78 +/- 1.92]% vs [41.38 +/- 1.53]%, P < 0.05), but that of the S phase remarkably lower in the former two than in the latter ([23.64 +/- 2.56]% and [25.24 +/- 1.86]% vs [33.51 +/- 1.47]%, P < 0.05), with a concomitant decrease in the expression of the cell cycle protein cyclin D1 and increase in the cyclin-dependent kinase inhibitor p21.</p><p><b>CONCLUSION</b>ADAM17-siRNA can effectively inhibit the proliferation of PC-3 cells by up-regulating cyclin D1 and down-regulating p21 protein, and ADAM17 has a potential value in the gene therapy of prostate cancer.</p>

PDCD5 induces the apoptosis of human prostate cancer cells PC-3M-1E8 / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the apoptosis-promoting effect of PDCD5 on human prostate cancer cells PC-3M-1E8.</p><p><b>METHODS</b>PCI-neo and PCI-neo-PDCD5 were transfected into PC-3M-1E8 cells by Lipofectamine 2000, the viability of the cells was analyzed by MTT assay 16 hours after removal of the serum, and the apoptosis was determined by in situ end-labeling and electron microscopy.</p><p><b>RESULTS</b>The viability and growing speed of the transfected cells were significantly decreased and their apoptotic indexes significantly increased as compared with the control group (P < 0.001).</p><p><b>CONCLUSION</b>PDCD5 may significantly inhibit the in vitro growth and promote the apoptosis of human prostate cancer cells PC-3M-1E8.</p>

Construction and identification of bait recombinant vector of pGBKT7-tumor necrosis factor-alpha converting enzyme cytoplasmic tail in the yeast two-hybrid system / 中华男科学杂志

<p><b>OBJECTIVE</b>To construct the bait vector pGBKT7-TACEc (cytoplasmic tail of tumor necrosis factor-alpha converting enzyme) of Macthmaker GAL4 Two-hybrid System 3, and to test whether it has self-activation and toxic action.</p><p><b>METHODS</b>TACEc gene was amplified by RT-PCR from the mouse testis, and the EcoRI and BamHI sites were introduced into it. The TACEc gene, after sequenced, was cloned into pGBKT7. Self-activation and toxic action of the recombination vector pGBKT7-TACEc was tested.</p><p><b>RESULTS</b>The pGBKT7-TACEc vector was successfully constructed and proved of no self-activation and toxic action.</p><p><b>CONCLUSION</b>The pGBKT7-TACEc can be applied to the screening of the mouse testis cDNA library in the yeast two-hybrid system.</p>