Objective:To describe the clinical characteristics , overall survival as well as to evaluate the prognostic factors in Chinese diffuse large B cell lymphoma ( DLBCL) patients.Methods: DLBCL pa-tients who were initially diagnosed and treated in Peking University Cancer Hospital from January 1995 to December 2008 were identified and analyzed ,retrospectively .The 5-year OS rates were estimated with Ka-plan-Meier.Log-rank test was used to compare the survival curves of the different groups .The multivari-ate analysis of prognostic factors was conducted with Cox regression model , which included all statistically significant prognostic factors in the univariate analyses .Results:A total of 525 DLBCL patients were in-cluded in this retrospective analysis , of whom , 294 were male and 231 female ( male∶female=1 .27∶1 ) . The median age at the initial diagnosis was 55 (range 16-90) years, and 37.0% (n=194) were 60 years and above .Regarding the clinical staging at the initial diagnosis , 54 patients (10.3%) were diag-nosed as Stage Ⅰ of the disease, 152 (28.9%) as Stage Ⅱ, 117 (22.3%) as Stage Ⅲ and 202 (38.5%) as Stage Ⅳ.The ‘B symptoms’ and increased serum LDH were presented in 206 (39.2%) and 192 (36.6%) patients, respectively.A total of 197 (37.5%) patients were treated with rituximab (R).The survival follow-up continued till 31 January 2014 with a median follow-up time of 77.5 ( range:0-205) months.A total of 267 patients (50.9%) died during the follow-up period.The medi-al overall survival ( OS) time was 84 months, and 5-year OS rate was 52.3%.There were six statistically significant prognostic factors that were identified in both univariate and multivariate analyses : gender, Ann Arbor stage, B symptom, serum LDH, age at initial diagnosis and rituximab treatment .The relative risk ( RR) of these prognostic factors in the multivariate analyses were: age >60 years /≤60 years=1.380 (95%CI 1.078 -1.765), male /female =1.315 (95%CI 1.025 -1.687), stage Ⅲ/stageⅠ=3.034(95%CI 1.667-5.522), stage Ⅳ/Ⅰ=3.748(95%CI 2.102 -6.681), with B symp-toms/without B symptoms=1.278(95%CI 0.999-1.636),serum LDH increased/LDH not increased=1.351(95%CI 1.057 -1.726), without R treatment /with R treatment =1.543(95%CI 1.182 -2 .015 ) .Compared with the IPI , age >50 years/≤50 years was a statistically significant factor in both univariate and multivariate analyses RR =1.478 (95%CI 1.148-1.902), P=0.002.Conclusion:Six factors were related to DLBCL survival:gender, Ann Arbor stage, B symptom, serum LDH, age at initial diagnosis and rituximab treatment .Compared with the IPI , several specific factors may predict a poor prognosis in Chinese DLBCL patients:male , age>50 years and the presence of ‘B symptoms ’ .But this result is not conclusive until these factors are further tested .

OBJECTIVETo explore the differences between the Bayesian interim analysis and the classical interim analysis.

METHODSTo compare the means of two independent samples between control and treatment, superior hypothesis test was established. In line with the data requirements for group sequential design, Type Iota error of Bayesian interim analysis based on various prior distributions, Power, Average Sample Size and Average Stage were estimated in the interim analysis.

RESULTSIn the Pocock and O' Brien & Fleming designs, the Type Iota errors in the Bayesian interim analysis based on the skeptical prior distribution and the handicap prior distribution were controlled at around 0.05. When the powers of these two classical designs were both 80%, Bayesian powers of the skeptical prior distribution and the handicap prior distribution were markedly lower. The powers of the non-informative prior distribution and the enthusiastic prior distribution were distinctly higher than 80%.

CONCLUSIONIn the Bayesian interim analysis based on the skeptical prior distribution and the handicap Prior distribution, the Type Iota errors can be well controlled. Bayesian interim analyses using these two prior distributions, compared with the analysis adopting the O' Brien & Fleming method, can markedly increase the possibility of ending the clinical trials ahead of time. The Bayesian interim analyses based on these two distributions do not have practical value for group sequential design of the Pocock method.

Objective To evaluate the feasibility of apply Ion Proton semiconductor sequencing platform in non-invasive prenatal genetic diagnosis .Methods Totally 1 000 pregnant women with a singleton pregnancy of 12-32 weeks gestation were selected from the Third affiliated Hospital of Zhengzhou University from Jan to Dec 2013.Using noninvasive prenatal genetic diagnosis based on Ion Proton semiconductor sequencing platform to study their cffDNA .In parallel, 72 pregnant women received invasive prenatal diagnosis by traditional chromosomal analysis with amniocentesis chorionic villus sampling .Results It′s shown that 18 out of 1 000 (1.8%) pregnant women underwent the noninvasive prenatal genetic testing had a high risk for aneuploid chromosomes , including 7 cases of 21-trisomy, 4 cases of 18-trisomy, 2 cases of 13-trisomy, 4 cases of sex chromosomal abnormality , and 1 case of 15-trisomy.It demonstrated that the rate and accuracy of fetal 21-trisomy, 13-trisomy and 18-trisomy by non-invasive prenatal genetic testing were both 100%without misdiagnosis , the rate of detection for sex chromosomal abnormality was 2/2 with a false positive rate of 1/3.However, the 15-trisomy predicted by the non-invasive prenatal diagnosis in a woman was finally proved to be a false positive .Based on the results by karyotyping (55/55) as well as follow-ups (493/493), the specificity of the non-invasive prenatal diagnosis for detection of 21-trisomy, 18-trisomy and 13-trisomy was 100%.One Ion PITM chip could detect 12 to 15 samples in 1.5 h and the whole process of noninvasive detection could be completed in 1 to 1.5 days.Conclusions The non-invasive prenatal diagnosis by Ion Proton semiconductor sequencing platform could provide fast and accurate detection of fetal aneuploidy .The benchtop high-throughput sequencing platform has laid the foundation for the independent application in clinical settings for fetal aneuploidy detection .

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.