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*

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.

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 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

The objective of this work was to develop a valuable adsorbent for recovery of platinum by studying the properties of Pt4+ -adsorption with immobilized Citrobacter freudii XP05 biomass. Five methods for immobilization of Citrobacter freudii XP05 biomass were compared. The method with gelatin-alginate sodium as entrapment matrix was considered to be the optimal. Spherical and uniform beads were produced and the SEM micrograph indicated that the cell of strain XP08 were uniformly dispersed within the matrix. The adsorption of Pt4+ by immobilized XP05 biomass was affected with adsorptive time, pH value of the solution, immobilized biomass concentration, Pt4+ initial concentration The adsorption was a rapid process. The optimal pH value for Pt4+ adsorption was 1.5, and its adsorptive capacity increased linearly with increasing Pt4+ initial concentrations in the range of 50 - 250 mg/L. The experimental data could be fitted to Langmuir and Freundlich models of adsorption isotherm. The adsorptive capacity reached 35.2 mg/g under the conditions of 250 Pt4+ mg/L, 2.0 g/L immobilized biomass, pH 1.5 and 30 degrees C for 60 min. 98.7% of Pt4+ adsorbed on immobilized biomass could be desorbed with 0.5 mol HC1/L. The characteristics of dynamic adsorption and desorption of immobilized XP05 biomass in packed-bed reactor were investigated. The saturation uptake was 24.66 mg Pt4+ /g under the conditions of flow rate 1.2 mL/min, pH 1.5, 50 mg Pt4+/L and 1.85 g biomass(dry weight) . Adsorptive efficiency of Pt4 + by the immobilized XP05 biomass was above 78% for 4 cycles of adsorption and desorption. The recovery of platinum from waste platinum catalyst was studied. The adsorptive capacity was 20.94 mg Pt4+/g immobilized biomass under the conditions of 4.0 g/L immobilized XP05 biomass, 117.76 mg Pt4+/L and pH 1.5 for 60 min. The immobilized XP05 biomass is potentially applicable to the recovery of platinum from waste and wastewater containing platinum.
Biomass ; Bioreactors ; microbiology ; Citrobacter ; metabolism ; Microscopy, Electron, Scanning ; Microspheres ; Platinum ; isolation & purification ; metabolism ; Waste Disposal, Fluid ; methods ; Water Pollutants, Chemical ; isolation & purification ; metabolism

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

OBJECTIVETo study on growth characteristics of Curcuma wenyujin, and provide theoretical basis for the development of high-quality and high-yield medical material.

METHODThe morphological change of the plant was observed periodically, the content of volatile oil and dry matter in leaves, rhizome, root tuber was determine.

RESULTThe growth of C. wenyujin could be divided into 5 stages, i. e. seed germination, seedling, leaf growth, rhizome expansion, accumulation of dry matter, respectively. Before the stage of rhizome expansion, over 70% dry matter was accumulated in the aerial part of the plant, and during the stage of leaf growth, the maximum increase rate of dry matter in aerial part was 3.90 g/p/d. During the stage of rhizome expansion, the ratio of dry matter of rhizome increased quickly and reached above 33% , and the increase rate of dry matter of rhizome rise up to 3.83 g/p/d, in the end of the stage, the content of volatile oil in the rhizome also rose up to 1.20 mL x 100 g(-1).

CONCLUSIONDuring the whole growth stage, there are two growth centers, when the two curves of dry matter increase of aerial part and rhizome intersect, it is regarded as a signal that the growth transformed form the aerial part to rhizome. When the rate of dry matter from rhizome rise, the content of volatile oil in rhizome rises quickly with the increase of dry matter in rhizome. The optimal harvest time is in mid-December.

Curcuma ; anatomy & histology ; chemistry ; growth & development ; Germination ; Oils, Volatile ; analysis ; Plant Components, Aerial ; chemistry ; growth & development ; Plant Leaves ; chemistry ; growth & development ; Plant Roots ; chemistry ; growth & development ; Plants, Medicinal ; anatomy & histology ; chemistry ; growth & development ; Rhizome ; chemistry ; growth & development ; Seasons ; Seedlings ; chemistry ; growth & development ; Seeds ; growth & development