Adolescent ; Diagnosis, Differential ; Humans ; Male ; Sturge-Weber Syndrome ; pathology

OBJECTIVE: To explore the feasibility of detecting of Y-STR of fetal DNA in maternal plasma using Ion Torrent PGM™ System. METHODS: A total of 16 fetal DNA samples from maternal plasmas (8 cases from 38 weeks gestational age and 8 ones from 12 weeks) were prepared and a multiplex assay with 7 STR loci (DYS390, DYS391, DYS393, DYS438, DYS437, DYS456, DYS635) was designed for multiplex-PCR amplification. Using Ion Torrent PGM™ System, the results of Y-STR sequences and capillary electrophoresis were obtained and compared. RESULTS: Y-STR specific alleles were detected in the maternal plasma of all the pregnant women having male babies of second and third trimester, which were higher than that detected by capillary electrophoresis. Consistent Y-STR genotypes were observed between fetal DNA from maternal plasma and genomic DNA from the newborn babies. CONCLUSION Based on Ion Torrent PGM™ System, the prenatal Y-STR detection method may provide a high-sensitive and high-throughput choice for prenatal STR detection in forensic testing.
Alleles ; Chromosomes, Human, Y/genetics* ; DNA/blood* ; Family ; Female ; Fetal Blood/chemistry* ; Genotype ; Haplotypes ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Pregnancy ; Sensitivity and Specificity ; Sex Determination Analysis ; Tandem Repeat Sequences/genetics*

Attention deficit hyperactivity disorder (ADHD) is one of the most common mental disorders in childhood,with a high heritability about 60％ to 90％.Serotonin is a monoamine neurotransmitter.Numerous studies have reported the association between the serotonin receptor family (5-HTR) gene polymorphisms and ADHD,but the results are still controversial.In this study,we conducted a meta-analysis of the association between 5-HTR1B,5-HTR2A,and 5-HTR2C genetic variants and ADHD.The results showed that the 861G allele of 5-HTR1B SNP rs6296 could significantly increase the risk of ADHD (OR=1.09,95％ CI:1.01-1.18);the 5-HTR2C gene rs518147 (OR=1.69,95％ CI:1.38-2.07) and rs3813929 (OR =1.57,95％ CI:1.25-1.97) were all associated with the risk of ADHD.In addition,we also carried on a casecontrol study to explore the relevance between potential candidate genes 5-HTR 1 A,5-HTR1E,5-HTR3A and ADHD.The results indicated that 5-HTR1A rs6295 genotype (CC+CG vs.GG OR=2.00,95％ CI:1.23-3.27) and allele (OR=1.77,95％ CI:1.16-2.72) models were statistically significantly different between case group and control group.This study is the first comprehensive exploration and summary of the association between serotonin receptor family genetic variations and ADHD,and it also provides more evidence for the etiology of ADHD.

Objective To understand the carrying condition of the mutation gene of neonatal deafness in Huzhou City and explore the significance of the combination screening of hearing and deafness genes. Methods 2258 newborns who were born in Huzhou maternal and child health care hospital were screened for hearing and deafness and were followed up to the age of 3. Two kinds of complementarity and relativity of screening were analyzed. Early hearing screening was used by transient evoked otoacoustic emission (TEOAE) screening, hearing rescreening was used by TEOAE and autoauditory brainstem response (AABR) . Collected the neonatal umbilical cord blood and detected GJB2, SLC26A4, GJB3, mitochondrial 12SrRNA 4 genes 20 deafness mutations. Results Early hearing screening failed in 550 cases, with a failure rate of 24.36％. Detected in 118 cases of deafness gene carriers, total carrying rate was 5.23％. GJB2, SLC26A4, GJB3 and mitochondrial 12SrRNA gene mutation rate were 3.10％, 1.46％, 0.58％ and 0.09％ respectively. Initial failure rate of mother and child hearing screening was 16.30 ％ (300/1840) . The rate of gene transfer for deafness mutation was 5.65 ％ (104/1840) . Initial failure rate of NICU hearing screening was 59.81 ％ (250/418) . The rate of gene transfer for deafness mutation was 3.35％ (14/418) . The failure rate of initial hearing screening of NICU newborns was higher than that of mother and child (P<0.01) . There was no statistically significant difference in carrying rate between the two groups (P>0.05) . There was no statistical correlation between initial hearing screening andwhether or not to carry deaf mutation gene (P>0.05) . 52 infants were missed in this study. 12 patients were diagnosed with hearing impairment, and the hearing impairment rate was 0.54％. Among them, 9 cases were normal and 3 cases were abnormal. Conclusion Newborns hearing screening by whether or not had nothing to do with deafness gene.Hearing screening with deafness gene screening at the same time can reduce the delay in diagnosis of deafness and drug deafness can also be prevented early.

Objective To study CD35on erythrocytes and erythrocyte chemokine recepter(ECKR)in patients with psoriasis in order to explore red blood cell(RBC)innate immune function and its possible role in the pathogenesis of psoriasis.Methods The rapid natural immune reaction on cancer cells was measured with RBCs isolated from fresh blood.Expression of CD35on erythrocytes was detected by flow cy-tometry.The level of IL-8,which was bound to isolated erythrocytes,was measured by enzyme linked im-munosorbent assay(ELISA)in the supernatant after centrifugation,which represented ECKR binding activity.Results Rosette formation rates of RBC adhering to cancer cells and expression of CD35on RBCs were significantly higher in psoriatic patients than those in control group(P

OBJECTIVETo observe the effect of Chinese herbal compound for supplementing qi and activating blood circulation (CHC) on the gap junctional intercellular communication (GJIC) function of myocardial cells in patients with Coxsackie virus B 3 (CVB3) viral myocarditis.

METHODSExpressions of actin and connexin43 (Cx43) in myocardial cells of patients arranged in three groups (the normal control group, the viral infected group and the CHC treated group) were detected by immunohistochemical method; the fluorescence photobleaching recovery rate of cells was detected by laser scanning confocal microscope.

RESULTSAs compared with the viral infected group, the expressions of actin and Cx43 were increased and the GJIC function was improved in the CHC treated group.

CONCLUSIONCHC could antagonize viral injury on skeleton protein, and repair the structure of gap junction channel to improve the GJIC function of myocardial cells after being attacked by CVB3.

Actins ; genetics ; metabolism ; Animals ; Animals, Newborn ; Cell Communication ; physiology ; Connexin 43 ; genetics ; metabolism ; Coxsackievirus Infections ; metabolism ; Drugs, Chinese Herbal ; pharmacology ; Enterovirus B, Human ; Gap Junctions ; physiology ; Myocarditis ; metabolism ; virology ; Myocardium ; metabolism ; Rats ; Rats, Wistar

This study was aimed to detect the mutations and microsatellite instability (mtMSI) in mitochondrial DNA (mtDNA) D-loop region in bone marrow cells of acute leukemia (AL) patients, and to analyze their relationship with the pathogenesis of AL. 19 cases of newly diagnosed AL were enrolled in this study. Through extracting mtDNA, the D-loop region was amplified by polymerase chain reaction (PCR), the sequences of PCR products were detected by the pros- and cons-direct sequencing methods. The sequencing results were compared with the revised Cambridge reference sequence (rCRS) and the relevant database (MITOMAP database, GenBank database, mtDB database). The results showed that the mutation rate of mtDNA D-loop region in AL was 79% (15/19). 215 variations (35 mutations, 180 SNP) and a kind of mtMSI in the D-loop region were detected. A new type of mutation nt150 C-CT was found. Also, there was no significant difference in the number of mutations between patients with different ages and different types of AL (AML, B-ALL). It is concluded that there is high frequency of mutations in the mtDNA D-loop, and the mutations may be associated with the pathogenesis of AL.
Adolescent ; Adult ; Aged ; Bone Marrow Cells ; Child ; DNA, Mitochondrial ; genetics ; Female ; Humans ; Leukemia ; genetics ; Male ; Microsatellite Instability ; Middle Aged ; Mutation ; Young Adult

Objective The purpose of this paper was to discuss the problemsexisted in the process of clinical scientific and technological achievements transformation which hampered a lot of technology transfer in public hospitals,and put forward countermeasures and suggestions.Methods This paper took the Tenth people’s hospital,Tongji University as an example,analyzed current situations in public hospitals,proposed some countermeasures and suggestions and ultimately listed the achievements.Results We carried out measures to enhance our scientific and technological achievements transformation such as institution guarantee,organization guarantee,publicity education guarantee,fund guarantee and strategy cooperation.And we got achievements in scientific and technological achievements transformation.Conclusions The achievements in the process of clinical scientific and technological achievements transformation make the transformation of intellectual property to develop smoothly.

OBJECTIVETo investigate the effects of processing adjuvants-different types of processing vinegar on effective constituents in rhizoma of Corydalis yanhusuo, and evaluate the quality of different types of vinegar in China.

METHODThe HPLC method was adopted to determine the extraction solubility of dl-tetrahydropalmation and total alkaloids in rhizoma of Corydalis yanhusuo processed by vinegar. The sample extracts were separated on kromasil ODS column with mobile phase of methanol-1% phosphoric acid solution(65:35) and detection wavelength was 280 nm.

RESULTThere was a remarkable increase in extraction solubility of dl-tetrahydropalmation and total alkaloids in the rhizoma of Corydalis yanhusuo processed by the vinegar products with high content of total acids or with known trademarks.

CONCLUSIONSome types of vinegar with known trademarks had been preliminarily selected for the process of Chinese traditional medicine and they also met the requitrement of processing adjuvants with medicine grade. The results will be benefited to the foundation of standardization of vinegar.

Acetic Acid ; classification ; Alkaloids ; analysis ; Berberine Alkaloids ; analysis ; Corydalis ; chemistry ; Plants, Medicinal ; chemistry ; Reproducibility of Results ; Rhizome ; chemistry ; Technology, Pharmaceutical ; methods

OBJECTIVESan'ao Decoction (, SAD), as a representative Chinese medicine (CM) formula, was chosen to evaluate the effect of airway inflammation and hyperresponsiveness on the lipopolysaccharide (LPS) enhanced asthma model.

METHODSThe asthma model was reproduced in the Balb/C mice sensitized by ovalbumin (OVA), challenged by OVA and LPS. After Balb/C mice's administration of a dose (0.0024 g/kg) of dexamethasone acetate, and three doses (2.2 g/kg, 4.4 g/kg and 8.8 g/kg) of SAD, airway inflammation and responsiveness were observed. The airway inflammation was detected by counting bronchoalveolar lavage fluid (BALF) cells and lung histopathology. Also, differential expressions of interferon-r (IFN-γ), interleukin-4 (IL-4), and IL-5 in the supernatants of BALF were examined. The changes in airway responsiveness indicated by lung resistance (R(L)) and stimulated by acetylcholine (Ach) were determined.

RESULTSSmall-dose SAD hardly inhibit airway inflammation or hyperresponsiveness in the LPS-enhanced asthma, while medium-dose and high-dose SAD significantly inhibited the airway hyperresponsiveness, and to some extent, reduced airway inflammation. Meanwhile, the small-dose, medium-dose, and high-dose SAD promoted Th1-type cytokines (IFN-γ) and reduced Th2-type cytokines (IL-4, IL-5) to different extents, which led to a Th1/Th2 balance.

CONCLUSIONSAD has a good therapeutic effect on airway hyperresponsiveness in the LPS-enhanced asthma model, but its definite influence on airway inflammation is not remarkable.

Animals ; Asthma ; chemically induced ; complications ; drug therapy ; physiopathology ; Bronchial Hyperreactivity ; complications ; drug therapy ; pathology ; Bronchoalveolar Lavage Fluid ; cytology ; Cell Count ; Disease Models, Animal ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Interferon-gamma ; metabolism ; Interleukin-4 ; metabolism ; Interleukin-5 ; metabolism ; Lipopolysaccharides ; Lung ; pathology ; physiopathology ; Mice ; Mice, Inbred BALB C ; Pneumonia ; complications ; drug therapy ; pathology