Objective To analyze karyotype,genetic characteristics and clinical features of Turner syn-drome.Methods Cytogenetic analysis and genetic counseling were performed for patients with the diagnosis of Turner syndrome.Results Analyzed karyotype of forty-nine patients with Turner syndrome,there are five major categories such as simple type,numerical abnormality and chimeras,structural abnormality and chime-ras,both numerical abnormality and structural abnormality chimeras,contained the Y chromosome.Abnormal karyotypes were presented at eighteen species.Simple type was the most prevalent type of patients with Turn-er syndrome(43%).Conclusion Different karyotype exhibit some different phenotype.The clinical manifesta-tion of chimeras might depend on the proportion of abnormal karyotype,Case contained the Y chromosome would be hermaphrodismy mostly.Timely diagnosis of the disease would have positive significance to preven-tion and therapy.Hormonal therapy could improve patient's height and gonad development,the case contained the Y chromosome should pay attention to prevent gonadoblastoma.

Based on the pathophysiology of the brain, advance in angiogenesis induced by stroke, and evidences of Chinese-medicine-mediated angiogenesis, the possibility to study the stroke-treating mechanism of Chinese medicine in angiogenesis was discussed. And regarding our previous work on angiogenesis modulated by qi-tonifying and stasis-eliminating therapy following intracerebral hemorrhage, we proposed some questions, which should be taken into account in the further work.
Brain ; blood supply ; pathology ; Humans ; Medicine, Chinese Traditional ; Microvessels ; pathology ; Neovascularization, Physiologic ; Stroke ; therapy ; Wound Healing

Objective To investigate the influencing factors on behavior related to HIV testing among female commercial sex workers under Structural Equation Model (SEM).Methods In Chongqing,Sichuan,Guangxi,Xinjiang provinces,1613 female commercial sex workers were participated in a questionnaire survey.Factors on behaviors related to HIV testing among female commercial sex workers were analyzed based on SEM.Results Influencing factors on behaviors related to HIV testing among female commercial sex workers would include social status,knowledge on AIDS,risk through self-evaluation,condom use,frequency of sexual services etc.GFI,AGFI,RMR were 0.9952,0.9898 and 0.0115 respectively.Conclusion Social status,knowledge on AIDS,risk through self-evaluation,condom use and frequency of sexual services were affecting the behaviors related to HIV testing among female commercial sex workers.

OBJECTIVETo investigate the proportion of incidence of children with non-specific chronic cough in Chongqing and analyze the characteristics of etiology during the follow-up.

METHODDiagnostic criteria were defined for children with non-specific chronic cough according to the Guidelines of diagnosis and therapy for children with chronic cough that were formulated by the Subspecialty Group, Society of Pediatrics, Chinese Medical Association and Chinese Journal of Pediatrics in 2008. Totally 266 patients in whom cough was the main or the only symptom,lasting > 4 weeks, presenting to Asthma Center of Children's Hospital, Chongqing Medical University between June 2008 and April 2009 were recruited into this study. Based on the Guidelines, diagnosis was made after taking history, physical examination and assistant examination. After etiological treatment, the patients were followed up during the second week, the fourth week and the twelfth week. Etiological diagnosis was confirmed if cough was resolved after specific therapy. If cough was not resolved,the diagnosis was rechecked and a new therapy was applied.

RESULTTotally 125 (47.0%) patients received final diagnoses of cough variant asthma (CVA), 58 (21.8%) was CVA and upper airway cough syndrome (UACS), 44 (16.5%) was diagnosed postinfection cough, 35 (13.2%) of UACS. In different age groups, the proportion of incidence of etiological agents is statistically distinct. In the ≤ 3 years old group, 35 patients (70.0%) were diagnosed CVA, 10 (20.0%) was postinfection cough; in 3 - 6 years group, 71 patients (50.7%) had CVA; the incidence of UACS was significantly higher in ≥ 6 years group.

CONCLUSIONIt is concluded that CVA, CVA and UACS, post infection cough, and simple UACS were identified as the three top reasons for children with chronic cough in Chongqing. Children with chronic cough of different age groups had different etiology of cough. The characteristic of each etiology need further study.

Adolescent ; Asthma ; epidemiology ; Child ; Child, Preschool ; China ; epidemiology ; Chronic Disease ; Cough ; epidemiology ; etiology ; microbiology ; Follow-Up Studies ; Humans ; Incidence ; Infant ; Infection ; epidemiology

OBJECTIVETo probe into the mechanism of electroacupuncture intervention for lipid metabolism of metabolic syndrome patients.

METHODSEighty cases of metabolic syndrome were randomly divided into an electroacupuncture combined with western medicine group (observation group) and a simple western medicine group (control group), 40 cases in each group. The observation group was treated with electroacupuncture at Back shu points, Zusanli (ST 36),Zhongwan (CV 12),Sanyinjiao (SP 6) etc. as main combined with oral administration of Simvastatin, Glipizide XL, and Felodipine sustained-release tablets for lipid-lowering, glucose-lowering and antihypertensive treatment; the control group was treated with oral administration of western medicine only (the medicine was the same with observation group). The Body Mass Index (BMI) and the blood lipid of the patients were detected respectively before and after treatment.

RESULTSThe BMI, Three Acids Glyceride (TG), Total Cholesterol(TC), Low Density Lipoprotein Cholesterol (LDL-C) and High Density Lipoprotein Cholesterol (HDL-C) were compared respectively before and after treatment, there were significant differences between them in observation group (all P < 0.01); while in control group, there were significant differences of TG,TC,LDL-C and HDL-C before and after treatment (all P < 0.01), and with no significant difference in BMI before and after treatment. There were significant differences of BMI,TG,TC,LDL-C and HDL-C between two groups after treatment (P < 0.01, P < 0.05).

CONCLUSIONThe electroacupuncture has an obvious effect to reduce body mass, and acupuncture combined with medication has a better effect of improving the lipid metabolism than simple medication.

Acupuncture Points ; Adult ; Body Mass Index ; Electroacupuncture ; Female ; Humans ; Hypolipidemic Agents ; administration & dosage ; Lipid Metabolism ; Lipids ; blood ; Male ; Metabolic Syndrome ; drug therapy ; metabolism ; therapy ; Middle Aged

In order to construct an eukaryotic expression vector for gene of multiple myeloma mucin1 (muc1-2vntr) gene and to express it in COS-7 cells in vitro, so to provide the basic material for further research of multiple myeloma DNA vaccine. muc1-2vntr coding gene was used as a research gene and a KOZAK sequence was inserted before the gene Hind III and XbaI restriction sites were inserted before and after the coding gene. Then the whole sequence was synthesized and inserted into pcDNA3.1/myc-his B vector, and the resulted recombinant vector was transformed into E.coil competent cells to get an engineering strain, the recombinant plasmid pcDNA3.1-2vntr/myc-his B identified by restriction analysis and DNA sequencing were transfected into COS-7 cells by liposome-mediated gene transfer method. Finally, fluorescent microscopy was used to assess GFP expression and Western blot analysis using muc1 monoclonal antibody was used to recognize vntr, confirming the expression of vntr. The results showed that the full length of synthesized muc1-2vntr gene, as expected, was 140 bp. Both restriction analysis and DNA sequencing demonstrated that pcDNA3.1-2vntr/myc-his B included the whole translation frame region and muc1-2vntr gene. Furthermore, the fluorescence microscopy proved that the recombinant plasmid had been successfully transfected into COS-7 cells. The expression of mucin-1 protein was observed both in the transfected cell and the cell supernatant by Western blot. It is concluded that the pcDNA3.1-2vntr/myc-his B has been successfully constructed and expressed in COS-7 cells in vitro, which provides the basic material for further researches of mucin-1 function and possible multiple myloma DNA vaccine.
Animals ; Base Sequence ; COS Cells ; Cercopithecus aethiops ; Genetic Vectors ; Molecular Sequence Data ; Mucin-1 ; genetics ; Multiple Myeloma ; genetics ; Plasmids ; Transfection

Adolescent ; Adult ; Aged ; Diagnostic Errors ; Female ; Fractures, Bone ; diagnosis ; Humans ; Male ; Middle Aged ; Multiple Trauma ; pathology ; therapy ; Physician's Role ; Young Adult

Objective To construct multiple myeloma mucin MUC1-2VNTR gene eukaryotic expressing vector,which provided the basic material for further study of multiple myeloma DNA vaccine.Methods MUC1-2VNTR coding gene as target gene,and a KOZAK sequence was inserted before it.Hind Ⅲ and Xba Ⅰ restriction enzyme site were inserted on both ends.Then the whole sequence was synthesized and cloned into pcDNA3.1/myc-his B vector,and the recombinant vector was identified by restriction enzyme digestion and DNA sequencing.Results Synthesized MUC1-2VNTR gene was 140 bp.Restriction enzyme digestion and DNA sequencing confirmed pcDNA3.1/MUC1-2VNTR/myc-his B including the whole exact translation frame region and MUC1-2VNTR gene.Condnsion The pcDNA3.1/MUC1-2VNTR/myc-his B has been successfully constructed,which provides the basic material for further studies of MUC1 mucin function and multiple myloma DNA vaccine.

OBJECTIVETo investigate the effects and mechanism of qi-tonifying and stasis-eliminating (QTSE) therapy on the expression of vascular endothelial growth factor (VEGF) and its receptors Flt-1 and Flk-1 in the brains of intracerebral hemorrhagic (model) rats.

METHODSOne hundred and eighty Sprague-Dawley rats were randomly divided into six groups: the normal group (n=5), the sham-operative (SO) group (n=35), the model group (n=35), the QTSE group (n=35), the QT group (n=35) and the SE group (n=35). All the rats except those in the normal group and SO group were established into an intracerebral hemorrhage(ICH) model by intracerebral injection of collagenase type VII and the latter three were orally administered with Buyang Huanwu Decoction (a classical recipe for QTSE) or with some of its components for qi-tonification and for stasis-elimination, respectively. To the other three groups, normal saline solutions were given instead. Behavioral tests were carried out in the animals randomly chosen from each group on days 1, 2, 4, 7, 14, 21 and 28 after modeling. The expressions of VEGF, Flk-1 and Flt-1 were determined by immunohistochemistry and the number of vascular segments with positive expression in the injured brain area of the rats was calculated.

RESULTSFrom day 7 onwards, the asymmetric forelimb use rate in the QTSE group recovered more significantly than that in the other model groups. In the model group, the expressions of VEGF, Flk-1 and Flt-1 appeared on day 1 and reached a peak on day 21, then weakened gradually. In the QTSE group, as compared with the other model groups, a higher level of VEGF expression was shown from day 7 (P<0.01) and a higher level of Flt-1 expression was shown from the 7th day to the 21st day (P<0.01).

CONCLUSIONQTSE therapy can up-regulate the expressions of VEGF and its receptors (Flk-1 and Flt-1) and improve the recovery of kinetic function in the ICH rats, which may be correlated with its action in modulating vascular regeneration to promote the reconstruction of microvascular networks in the damaged areas.

Animals ; Behavior, Animal ; drug effects ; Brain ; drug effects ; metabolism ; Cerebral Hemorrhage ; drug therapy ; metabolism ; Female ; Forelimb ; physiopathology ; Male ; Medicine, Chinese Traditional ; methods ; Phytotherapy ; methods ; Qi ; Rats ; Rats, Sprague-Dawley ; Vascular Endothelial Growth Factor A ; metabolism ; Vascular Endothelial Growth Factor Receptor-1 ; metabolism ; Vascular Endothelial Growth Factor Receptor-2 ; metabolism

OBJECTIVEDuchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by dystrophin gene mutations; 55%-65% of these pathogenic mutations are large deletion and duplication mutations that can be detected by multiplexed polymerase chain reaction. However, finding the remaining micro-mutations (substitutions, deletions or insertions of one or several nucleotides) cannot be achieved in this way. The aim of the present study was to detect mutations of the dystrophin gene in individuals with Duchenne muscular dystrophy (DMD) by denaturing high-performance liquid chromatography (DHPLC) and to establish a rapid and sensitive screening platform for micro-mutations leading to DMD.

METHODSTwenty patients negative for large deletions in the dystrophin gene by multiplex PCR were selected for further screening by DHPLC and 20 normal male without DMD family history as the control cohort. Dystrophin exons and their flanking sequences were individually amplified by genomic PCR and the amplicons showing abnormal DHPLC profile were directly sequenced to identify the position and the type of the mutations.

RESULTSAfter screening 68 exons covering the two deletion hotspots and 3'UTR region, four pathogenic mutations, including c.6808_6811del TTAA, c.4959_4960insA, c.8656C > T and c.8608C > T, were found in four DMD patients. Moreover, c.6808_6811del TTAA, c.4959_4960ins and c.8656C > T have not been reported previously. The first two frameshift mutations were predicted to produce premature stop codons, p.Leu2270MetfsX9 and p.Ser1654LysfsX5, respectively. The remaining two were nonsense mutations, leading to p.R2886X and p.R2870X, respectively.

CONCLUSIONThree novel and one recurrent dystrophin mutations have been identified in Chinese DMD patients. This study has demonstrated that DHPLC is an effective screening method for micro-mutation associated with DMD.

Chromatography, High Pressure Liquid ; methods ; trends ; DNA Mutational Analysis ; Dystrophin ; genetics ; Humans ; Infant ; Male ; Muscular Dystrophy, Duchenne ; genetics ; Mutation ; Sequence Deletion