ObjectiveTo observe the effect and safety of arsenic trioxide (ATO) combined with all-trans retinoic acid (ATRA) in treating patients with acute promyelocytic leukemia (APL).Methods Eighty-three cases with APL treated for the first time were divided into two groups by random digits table method:observation group with 48 cases was received combination induction treatment of ATO and ATRA,control group with 35 cases was treated with combination induction treatment of ATRA and chemotherapy.The clinical effect and adverse reaction between two groups were compared.ResultsThe effective rate and early death rate were 100.0％( 48/48 ) and 0 in observation group,97.1％(34/35 ) and 2.9％( 1/35 ) in control group,which had no significant difference between two groups(P ＞ 0.05 ).The incidences of bone marrow suppression,infection,liver and kidney damage,cardiac toxicity and gastrointestinal symptoms were 8.3％ (4/48),10.4％ (5/48),12.5％ (6/48),6.2％ (3/48) and 18.8％ (9/48) in observation group,while 97.1％(34/35),65.7％(23/35),45.7％(16/35),37.1％(13/35) and 100.0％(35/35) in control group,which had significant differences between two groups (P ＜ 0.05).ConclusionCombination treatment of ATO and ATRA in APL has an obvious effect and few adverse reaction,which can be applied in clinic.

BACKGROUND: The animals commonly used to induce experimental allergic encephalomyelitis (EAE) in oversea laboratory are rodentia animals such as Lewis rats. But in China we are short of Lewis rats. The un-susceptive animal Wistar rats are inexpensive and plentiful. The adding of pertussis toxin may induce EAE successfully in EAE un-susceptive Wistar rats.OBJECTIVE: To investigate the influence of pertussis toxin injected atdifferent sites in inducing EAE model in un-susceptive Wistar rats.DESIGN: A randomized control animal experiment.SETTING: Institute of Brain Science, Shanxi Datong University.MATERIALS: The study was performed in the Institute of Brain Science of Shanxi Datong University from March to October in 2003. Fifty-eight und adjuvant (CFA) group (n=10).METHODS: Besides routine immunization, each rat in the foot dorsum EAE group and intraperitoneal EAE group was administrated with 005 mL pertussis toxin (containing 5.0×1010 thalli), which were given intraperitoneally and subcutaneously on one hind foot respectively, and the antigen in the CFA group was replaced by CFA.cidence rate and tine of atta ck: In the foot dorsum EAE group, the incidence of EAE was 87.5% (21/24), and the time of attack was at (10.25 ±1.67) days after immunization, which were significantly different from those in the intraperitoneal EAE group [35.7% (9/24), (14.8±l.79) days, P sum EAE group, the change of body mass was (-16.00±7.30) g and the symptomscpre was 3.4±0.7, and those in the intraperitoneal EAE group Therewere no or little infiltration of inflammatory cells in the encephalon and spinal cord of CFA rats. In the EAE rats, there were inflammatory cells infiltrated in the boundary of white matter and gray matter of lumbar intumescence, spinal pia mater, spinal parenehyma, and the boundary of cerebral cortex and medulla, even deep medulla, meninges and around lateral ventricle. There were also mild inflammations in the cerebellum,brainstem and optic chiasma, which were concordant with the observed asynchronism, tic, etc. Hematoxylin and eosin (HE) staining displayed that the infiltrated mononuclear cells assembled in perivascular spaces, which were identified by morphological criteria as lymphocyte and macrophages.Forming typical muff-like changes, the inflammation was less severe in intraperitoneal EAE group than in subcutaneous foot dorsum EAE group.CONCLUSION: The EAE model induced in Wistar rats by Pertussis toxin administered subcutaneously on foot dorsum has the representative course of diseases, pathology change and clinical manifestation and the incidence of diseases is high and the cost is low. So it is a more ideal EAE model inducing method.

Objective To analyze the distribution of image noise in low-dose chest CT scan and optimize the relative scanning parameters.Methods The CT images of the Chinese anthropomorphic chest phantom( CDP-1 C) were simulated into six groups of low-dose images with different noise indexs by using an image noise addition tool.The difference between the preset noise index and analog noise value was compared.The CT images of 20 volunteers were also simulated into nine groups of low dose scans with the tube currents of 10,30,50,80,100,120,150,180 and 240 mA.The noise values of images were recorded and analyzed.Results There was no statistical difference between the analog noise value and the noise index.The image noise of low-dose chest scan was increased with the decrease of tube current.The noise was increased quickly when the current was decreased from 50 to 30 mA ( F =24.09 - 40.79,P ＜ 0.05),but the noise increased slowly when the current decreased from 240 to 80 mA.There was no statistical difference between the noise of 80 mA group and that of 120 mA(P ＞ 0.05).Conclusions The noise addition tool can be used to evaluate the image noise of low-dose chest CT scan.Adoption of 80 mA in chest CT scan would result in low radiation dose without adding image noise.

Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

Objective:To summarize the prenatal diagnostic characteristics of monogenic global developmental delay/intellectual disability(GDD/ID) pedigrees.Methods:This study retrospectively collected the prenatal molecular diagnostic results of 43 pedigrees that were affected with monogenic GDD/ID in the genetic counseling clinic of Peking University First Hospital from January 2015 to June 2019. The results of prenatal molecular tests were validated after birth or pregnancy termination. Pregnancy outcomes and healthy condition of the offspring were followed up. All data were analyzed by descriptive statistical analysis.Results:Among the 43 pedigrees, 24 were affected with autosomal recessive inheritance (AR) GDD/ID, in which six (25%) fetuses were found to carry two pathogenic variants; 13 (55%) had only one pathogenic variant; five (20%) did not harbor any variant. GDD/ID inherited in an autosomal dominant inheritance (AD) pattern was found in 13 pedigrees, in which 11 fetuses carried no variants while the other two fetuses had the same variants as the proband had (in one pedigree, a low-level variant was detected in the peripheral blood sample of the father while absent in peripheral blood samples of parents in the other pedigree, so it was suspected that the variants of these two affected fetuses were inherited from parental mosaicism). In the other six pedigrees with X-linked inheritance (XL) of GDD/ID, one male fetus was found to harbor the pathogenic variant, while no variants were detected in the others. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. Postnatal validations were consistent with the prenatal tests. All nine affected fetuses were terminated, and the other thirty-four children were delivered and in good health.Conclusions:Prenatal molecular diagnostic test is an effective method to detect pathogenic variants during the first and second trimesters for pedigrees affected by monogenic GDD/ID. For pedigrees affected with AD or XL patterns caused by de novo mutations, potential parental mosaicism should be noted and prenatal diagnostic tests are also recommended.

Objective To investigate proteolipid protein 1 (PLP1) mutations in six pedigrees with Pelizaeus-Merzbacher disease (PMD),and to provide prenatal consulting and prenatal diagnosis.Methods Subjects were six probands with PMD admitted in Department of Pediatrics,Peking University First Hospital from July 2006 to November 2011 and their family members.Genomic DNA sarnples were extracted from peripheral bloods of probands and their family members.Multiplex ligation-dependent probe amplification (MLPA) technique was used to detect PLP1 duplication mutation.Direct DNA sequencing was used to detect point mutation.Genetic diagnosis were based on PLP1 mutation genotype from probands.Prenatal diagnosis of nine fetuses were performed from seven PLP1 mutation female carriers by fetuses' DNA extracted from amniocytes or villus cells.Results PLP1 duplications were found in probands 1-4 (P1-4) whose mothers and the aunt of proband 1 (P1) were PLP1 duplications carriers.The two cases of point mutation,c.96C＞G(p.F32L) and c.623G＞T (p.G208V),were found in proband 5 (P5) and proband 6 (P6).Hcterozygous changes of the same mutations were found in P5' and P6' mothers with normal phenotypes.Seven female PLP1 mutation carriers were pregnant again.Prenatal diagnosis of PLP1 for nine fetuses presented one PLP1 duplication,one point mutation,one PLP1 duplication carrier,and six wildtypes.A segmental crossing over of X chromosome was detected in one male fetus of PLP1 wildtype.Conclusions PLP1 mutation analysis could help to diagnose PMD pedigree and to identify female PLP1 mutation carrier in the family.The following prenatal diagnosis and proper genetic counseling are very important to prevent PMD child from being delivered.

Objective To research the reliability and validity of resilience scale for adults(RSA)in military students.Methods RSA, depression, anxiety and somatization of Self-report Symptom Checklist 90(SCL-90)were applied in this survey to 616 military students.Results ①A 5-factor structure of resilience was showed by explorative factor analysis.Each item had a factor loading between 0.423～0.834, and the total variance explained at 58.439%.②The correlations between the subscales of the RSA were all obvious positive, ranging from 0.228～0.580；and the correlations between subscales of the RSA and total resilience were all obvious positive, ranging from 0.565～0.789.③There was a obvious negative correlation between total depression, anxiety and somatization and total resilience, the correlation coefficient was-0.437(n=593, P=0.000).④Tbe reliability coefficient of the RSA was 0.91, and the respective dimensions had Cronbach's alphas between 0.52～0.86.Conclusion The results show that RSA has acceptable reliability and validity in military students.

Covalently closed circular DNA (cccDNA) is the original template for hepatitis B virus (HBV) replication and is the basis of persistent HBV infection. Only when HBV cccDNA is completely eliminated can HBV be eradicated. Therefore, the detection of HBV cccDNA plays an important role in evaluating the antiviral outcome of chronic hepatitis B, assessing HBV clearance, clarifying occult HBV infection, studying the pathogenesis of hepatitis B, and developing new drugs, and HBV cccDNA detection techniques with high sensitivity and specificity are the basis for clinical application. With reference to related reports in literature and our own research work, this article reviews the development and clinical application of HBV cccDNA detection methods in recent years.

China ; Humans ; Neurology ; Pediatrics

Objectives To provide genetic counseling and prenatal molecular diagnosis for two families with megalencephalic leukoencephalopathy with subcortical cysts (MLC).Methods Two MLC patients (probands 1 and 2) were admitted to the Department of Pediatrics of Peking University First Hospital in June 2011 and June 2009,respectively.Peripheral blood was collected and DNA sequencing was performed for genetic analysis for the two MLC patients and their parents.Amniotic fluid and villus of two fetuses (fetus 1 and 2) were collected at 21+4 and 12+3 weeks of gestational age from their mothers when they were pregnant again.The genomic DNA of the two fetuses was extracted and corresponding sites of MLC1 gene were sequenced.Haplotype analysis using a combination of 3 microsatellite markers (AR,DXS6807 and DXS6797) on chromosome X and sex determining region of Y chromosome was performed to detect maternal cell contamination.Verification of the prenatal molecular diagnosis and follow up study after birth were conducted for both fetuses.Results Macrocephaly,motor development delay and typical findings on brain MRI were identified in the two probands,and were clinically diagnosed with MLC.Compound heterozygous mutations were detected in proband 1 [c.353C＞T (p.T118M) and c.803C＞G (p.T268R)] and proband 2 [c.353C＞T (p.T118M) and c.836T＞C(p.L279P)],respectively.MLC was genetically diagnosed.Heterozygous variation in c.353[c.353C＞T (p.T118M)] and wild c.803C were identified in fetus 1,and both wild c.353C and c.836T were found in fetus 2.No maternal cell contamination was detected in both fetuses.Sequencing the corresponding sites after birth confirmed the prenatal diagnosis,and the head circumference and motor development were normal in fetus 1 at 5 months old.No macrocephaly was found and no DNA sequencing was done in fetus 2 at one month old.Conclusions Genetic counseling and prenatal molecular diagnosis for MLC families combined with clinical and genetic diagnosis are important in preventing MLC.Haplotype analysis with a combination of three microsatellite markers on chromosome X and sex determining region of Y chromosome is useful in detecting maternal cell contamination and avoiding its influence on prenatal diagnosis,and confirming the reliability of prenatal diagnosis.