1,721,172 research outputs found
TRENDS IN PHARMACOGENOMICS OF DRUGS USED IN THE TREATMENT OF ASTHMA
No full textPharmacogenetic studies of drugs used in the treatment of asthma have produced a few examples of reduced response in patients carrying specific genotypes in genes involved in the action of beta-2 agonists or leukotriene modifiers. Other candidate genes related to these drugs, as well as glucocorticoids, theophilline, anticholinergics, antihistaminics, and drug-metabolizing enzymes, may be proposed. Statistical power and population stratification may be issues of importance in case-control association studies. Future developments include expanded gene knowledge from asthma genetic and genomic studies, the development of new preventive and curative treatments, multiple contemporary genotyping methods for pharmacogenetically important genes in a given individual, and the construction of asthma functional pharmacogenomic profiles. In conclusion, it seems that asthma pharmacogenetic studies need to be replicated in prospective clinical trials in different populations with a large number of subjects being genotyped. It is suggested that large clinical trials which are proposed for asthma drugs experimentation should include a pharmacogenetic study as well. © 2003 Elsevier Ltd. All rights reserved
Cistic Fibrosis mutation testing in Italy.
No full textIn Italy, Cystic fibrosis (CF) mutation frequency differences have been observed in different regions. In the northeastern Veneto and Trentino Alto Adige regions, a complete cystic fibrosis transmembrane conductance regulator (CFTR) gene screening in CF patients detected through a newborn screening program has identified about 90% of the mutations. In these two regions, the current detection rate using a CF screening panel containing the 16 most common mutations is 86.6%. CF mutations in some other Italian regions have not been so thoroughly analysed. Available data indicate that a more general national screening panel comprising 31 mutations may detect about 75 % of all CF mutations in Italy
Herpes simplex virus replication in the presence of DNA polymerase alpha inhibitors
No full text2-(p-n-butylanilino)deoxyadenosine (BuAdA), and N-2-(p-n-butylphenyl)deoxyguanosine (BuPdG), selective inhibitors of mammalian DNA polymerase alpha, were added to BHK-21(C13) cell cultures infected with herpes simplex virus type 1 (HSV-1) strain 17 syn +. Infectious virus production decreased significantly in the presence of the inhibitor at concentrations varying from 1 nM to 100 microM. BuPdG was more effective than BuAdA at all concentrations tested, while it inhibited virus yield as much as BuAdA when CVG2, a thymidine kinase deficient (TK-) HSV-1, was employed. HSV DNA synthesis, determined by quantitation of CsCl separated DNA peaks, was inhibited by each compound. BuPdG inhibited viral DNA replication more than BuAdA, while the effect on cell DNA synthesis was the same as that of BuAdA. CVG2 DNA replication was inhibited to the same level by BuAdA as by BuPdG. These results indicate that HSV DNA replication is partially dependent on cell DNA polymerase alpha activity, and that the greater effect of BuPdG on viral replication may be ascribed to its action on HSV thymidine kinase
Serotonin binding proteins from human blood platelets. An experimental model system for studies on properties of synaptic vesicles
No full textSerotonin uptake, binding and release were studied in human blood platelets. The uptake showed marked individual differences while the loss of 5-HT during resuspension of the 5-HT loaded platelets was constant. The existence of 5-HT binding proteins was demonstrated by equilibrium dialysis, gel filtration on a column equilibrated with 5-HT, affinity chromatography on a 5-HT-Sepharose column and polyacryl-amide disc gel electrophoresis experiments. After incubation of the platelet extract in the presence of [14-C]5-HT, electrophoretic and autoradiographic analysis demonstrated the presence of three 5-HT binding proteins, two of which were soluble glycoproteins specific for serotonin
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Genetics of idiopathic disseminated bronchiectasis
No full textBronchiectasis is an abnormal dilation of bronchi, consequent to the destruction of their walls. It is included in the category of obstructive pulmonary diseases, along with chronic obstructive pulmonary disease (COPD), asthma, and cystic fibrosis. In approximately 50% of cases, bronchiectasis is associated with underlying conditions; in the remainder, known causes are not ascertainable (idiopathic bronchiectasis). A search for genetic determinants of this phenotype, with the cystic fibrosis gene as a candidate, has been performed by three independent groups. The results of this search agreed on the association of bronchiectasis with cystic fibrosis gene mutations and polymorphisms. The cystic fibrosis gene is also associated with bronchiectasis due to rheumatoid arthritis and allergic bronchopulmonary aspergillosis. A few other genes have been investigated in idiopathic bronchiectasis, with negative results. Idiopathic bronchiectasis is, therefore, to be considered as an obstructive multifactorial disorder belonging to the category of cystic fibrosis monosymptomatic diseases (or CFTR-opathies), whose pathogenesis is influenced by environmental factors and other undetermined genes
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