OBJECTIVE: Investigate common deafness gene mutations in patients with severe and profound non-syndromic hearing loss in Liaoning in order to understand their hereditary etiologies and characteristics at the molecular level. METHOD: Peripheral blood samples were obtained and the DNA templates were extracted from 128 non-syndromic hearing loss patients who are sporadic in clinics. The deafness gene chip was applied to detect hot-spot deafness gene mutations including GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA. Deafness etiology questionnaires, pure tone audiometry, auditory brainstem response, tympanometry and temporal bone CT were also applied. RESULT: Various types of gene locus mutations were seen in 52 of the 128 patients (40.6%); (1) GJB2 gene mutations (n=22) included c. 235 del C homozygous mutation (n=10), c. 235 del C heterozygous mutation (n=5); c. 176_191 del 16 heterozygous mutation (n=l); c 35 del G heterozygous mutation (n=l); c. 235 del C/c. 299_300 del AT mutation (n=l), c. 235 del C/c. 176_191 del 16 mutation (n=l), c. 35 del G/c. 176_191 del 16 mutation (n=l); c. 299_300 del AT/c. 919-2 A>G mutation (n=l), c. 235 del C/c. 919-2 A>G mutation (n=l). (2) SLC26A4 gene mutations (n=30) included c. 919-2 A>G homozygous mutation (n=6), c. 919-2 A>G heterozygous mutation (n=17), c. 2168 A>G homozygous mutation (n=l), c. 2168 A>G heterozygous mutation (n=2), c. 2168 A>G/c. 919-2 A>G mutation (n=2), c. 919-2 A>G/GJB2 c. 235 del C mutation (n=2); (3) No GJB3 and mitochondrial 12S rRNA mutation. Genetic deafness was confirmed at the gene level in 24 cases (18.8%) and 28 patients (21.9%) were diagnosed as carriers of genetic deafness gene mutations. CONCLUSION Genetic deafness occupies a large population in deaf community in Liaoning. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss and provide theoretical guidance.
Adolescent ; Child ; Child, Preschool ; China ; Connexins ; DNA Mutational Analysis ; Deafness ; genetics ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Mutation

Methods of ELISA, nonradioactive molecular hybridiz ation and RT-PCR were applied in the detection of rice grassy stunt virus (RGSV ). The detection sensitivity of indirect ELISA using antiserum against fusion p rotein GST-NC was 1 mg of infected leaves or 84 ng of purified virus. The metho d of dot hybridization using NC, a DIG-labelled DNA probe was 50 μg diseased l e aves, or 6 ng purified preparations. The detection endpoint of RT-PCR was 10 μg diseased leaves, or 2 ng purified virus preparation. Comparisons of sensitivit y and maneuverability were made among these methods.

Hippophae rhamnoides is one of the most representative economy crops for its wide uses of biological diversity and abundance of resource. As the key healthy food development and ecology protection, H. rhamnoides has been developed widely. Meanwhile, the development of H. rhamnoides has obtained great achievements. Nowadays, H. rhamnoides is still a necessary economy crop, while it has great influence on ecology protection. This paper discussed the phytochemistry, pharmacology, clinical application and product development, and propounded some suggestions for future research and economy development to get comprehensive benefit of H. rhamnoides and to serve for well-off society.
Biomedical Research ; methods ; trends ; Drugs, Chinese Herbal ; chemistry ; therapeutic use ; Flavonoids ; chemistry ; therapeutic use ; Hippophae ; chemistry ; Humans ; Molecular Structure ; Phytotherapy ; methods ; trends ; Polyphenols ; chemistry ; therapeutic use

The genomes of umbraviruses do not encode a coat protein, and thus no conventional virus particles are formed in infected plants. Umbraviruses are always coinfected with an assistor virus, which is always a member of the family Luteoviridae, to cause most devastating diseases in some areas. The epidemiology of the umbra-virus-caused disease is largely depended on aphid transmission. The symptomology, occurrence, characteristics of the causal agents, disease control of carrot motley dwarf, groundnut rosette and tobacco bushy top were reviewed detailedly in this article.

Gas Chromatography-Mass Spectrometry ; methods ; Hexanones ; urine ; Humans ; Sensitivity and Specificity

OBJECTIVE:To provide reference for promoting rational use of essential medicines. METHODS:Combined with the actual situation of our hospital,a set of risk prevention and control system on essential medicine was constructed on the basis of relevant laws and regulations and support of information,and then implemented. RESULTS:The implementation of the system greatly promoted cognition of all medical staffs on reasonable,economical and safe use of essential drugs,standardized medication behavior and improved essential medicine use more reasonable. After the implementation of risk prevention and control system on essential medicines,medicine ratio of whole hospital decreased from 34.62% to 32.64%,inpatient medicine ratio decreased from 33.02% to 27.89%;essential medicine ratio of whole hospital rose from 31.22% to 43.34%,inpatient essential medicine ratio in-creased from 23.46%to 39.17%;the proportion of outpatient antibiotics prescriptions decreased from 15.04%to 13.46%,the utili-zation of inpatient antibiotics decreased from 62.11% to 48.47%. Various early warning were sent out 104 times in total,and 23 medical staff were punished due to irrational drug use. The prescription form and rationality of drug use were improved gradually. CONCLUSIONS:The construction of risk prevention and control system on essential medicine is one of the keys to the success of health care reform. It is suggested to make full use of thesystem+technologymeans,establish long-term mechanism for risk pre-vention and control,and constantly improve the system.

Objective To set a rapid,simple gene diagnosis method for Down syndrome.Methods Three short tandem repeats(D21S11,D21S1270,D21S1437)loci in or near Down syndrome critical region(DSCR) were analyzed and detected by polymerase chain reaction and DNA quantitative analysis in 11 core ancestry.Results There were four types by DNA quantitative analysis to different individuals at a short tandem repeats(STR) locus.In type one,a homozygote of one allelic gene was detected.In type two,a normal heterozygote of two allelic genes was found,the content or two DNA electrophoresis bands was approximately 1∶1.In type three,a Down syndrome patient of two allelic genes was discovered.The quantity of two electrophoresis bands was nearly 2∶1.In type four,the patient showed three DNA electrophoresis bands which the content was approximately 1∶1∶1.Conclusion A rapid gene diagnosis and prenatal diagnosis method for Down syndrome can be used for quantitative analysis of STR polymorphism loci.

Objective To observe the effect of meisoindigo on co-culture leukemic cells and bone marrow stromal cells.Methods Bone marrow stromal cells were cultured using bone marrow mononuclear cells from patients with leukemia,and built the co-culture leukemic cells and bone marrow stromal cells.Trypan-blue-exclusion test detected the proliferation of leukemic cells.The expression levels of membrane CXCR4 on leukemic cells were assessed by flow cytometric analysis.Results Bone marrow stromal cell of leukemia could inhibit leukemic cells proliferation,leukemic cells could be promoted their growth when exposed to low concentration (5 μmol/L) of meisoindigo.Abnormal high expression of CXCR4 in leukemic cells,and meisoindigo could markedly inhibit the expression of CXCR4 in HL-60 and del leukemic cells.Expression of CXCR4 in leukemic cells can up-regulated by bone marrow stromal cells from patients with leukemia.Conclusion Meisoindigo can down regulate expression of CXCR4 in leukeimic cells to antileukemic cells.

A reverse transcription polymerase chain reaction (RT-PCR) and single-strand conformation polymorphisms (SSCP) assay were applied to rapidly detect the molecular variability in CP and SP genes among seven isolates of Rice stripe virus in China. The PCR results showed that the CP gene of JD isolate and SP gene of PJ isolate could not be amplified. SSCP analysis showed that there were completely different electrophoretic pattern of CP gene among six isolates. To SP gene, SSCP results also discovered polymorphisms. There were five patterns among these isolates, and the pattern of YL and BS isolates were same.

Bone Neoplasms ; metabolism ; pathology ; surgery ; Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; Langerhans Cell Sarcoma ; metabolism ; pathology ; surgery ; Middle Aged ; S100 Proteins ; metabolism ; Talus ; Vimentin ; metabolism