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These are scientific papers developed by Stab team members
buy tadalafilFamilial Juvenile Hyperuricemic Nephropathy is an autosomal dominant Background: DNA microarrays are among the most widely used technical platforms for DNA and RNA studies, and issues related to microarrays sensitivity and specificity are therefore of general importance in life sciences. Compatible solutes are derived from hyperthermophilic microorganisms and allow such microorganisms to survive in environmental and stressful conditions. Compatible solutes show stabilization effects towards biological macromolecules, including DNA. The occurrence of invasive mycoses has progressively increased in recent years. Yeasts of the genus Candida remain the leading etiologic agents of those infections. Early identification of opportunistic yeasts may contribute significantly to improved disease management and the selection of appropriate antifungal therapy. Hydroquinone occurs naturally in bacteria and plants and it is also manufactured for commercial use. Human exposure to this compound can occur by environmental, occupational, dietary and cigarette smoke exposure and from exposure to benzene, which can be metabolized to this compound. However, the main source of exposure to this compound is dietary, since hydroquinone is a naturally occurring compound in many foods. Hydroquinone can be metabolized to benzoquinones, which are potent haematotoxic, genotoxic and carcinogenic compounds that can also induce the formation of radical species, predisposing cells to oxidative damage. In order to clarify the involvement of radical species in the genotoxicity of hydroquinone, the induction of chromosomal aberrations in V79 cells was studied along with the assessment of the production of hydroxyl radicals at different pH values (6.0, 7.4 and 8.0), as well as the effect of antioxidant enzymes [catalase and superoxide dismutase (SOD)] on the clastogenic effect of hydroquinone. The results obtained indicate that the clastogenic activity of hydroquinone is dependent on the pH, suggesting that deprotonation is a fundamental step leading to DNA lesions under the experimental conditions used. The addition of S9 mix, SOD or SOD and catalase signi®cantly decreased the clastogenic activity, suggesting the involvement of superoxide anion and hydrogen peroxide in the genotoxicity of hydroquinone. However, other species generated in the auto-oxidation process of hydroquinone, such as the semiquinone radical or the quinone, also seem to play a role in its genotoxicity, since the addition of antioxidant enzymes (catalase and SOD) or S9 mix do not lead to a complete abolition of the observed genotoxic activity. These results suggest the existence of at least two mechanisms associated with the genotoxic activity of this compound. Familial renal glucosuria is an inherited renal 2-O- We conducted a four-year (2003-2006) retrospective study of yeasts recovered in a hospital laboratory in the centre of Portugal to evaluate the epidemiology of yeast infections. Clinical isolates and data were gathered from 751 patients corresponding to 906 episodes of yeast infection. The isolates were first identified using classical and commercial methods, routinely employed at the hospital laboratory. Keywords Yeast infections, molecular yeast identification, risk factor, Candida metapsilosis, Candida orthopsilosis Members of the Cryptococcus species complex (C. neoformans and C. gattii) are opportunistic pathogens responsible for frequently fatal cases of meningoencephalitis. These yeasts have been classified into five serotypes. Serotypes A andDare assigned to C. neoformans var. grubii and C. neoformans var. neoformans, respectively, Serotype AD strains are hybrids and serotype B and C strains are considered to belong to the related but distinct species C. gattii. Previous studies have identified ‘serotype-associated’ alleles of several genes in the Cryptococcus species complex. We developed a loop-mediated isothermal DNA amplification method using CAP59 allele- specific primers to identify the serotypes A, D and B/C of the Cryptococcus species complex.
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By Joaquim Calado, Augusta Gaspar, Carla Clemente and José Rueff
Abstract
nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis.
Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in
some families.
buy tadalafil We here describe a novel heterozygous p.K307T mutation in an affected
female with hyperuricemia, renal cysts and renal failure. The proband's only son is also affected and
the mutation was found to segregate with the disease.
buy tadalafil This mutation is the fourth reported in exon 5. Initial studies identified a mutation
clustering in exon 4 and it has been recommended that sequencing this exon alone should be the
first diagnostic test in patients with chronic interstitial nephritis with gout or hyperuricemia.
However, regarding the increasing number of mutations being reported in exon 5, we now suggest
that sequencing exon 5 should also be performed.buy tadalafil no prescription
By Nicoletta Mascellani, Xiuping Liu, Simona Rossi, Jlenia Marchesini, Davide Valentini, Diego Arcelli, Cristian Taccioli, Mauro Helmer Citterich, Chang-Gong Liu, Rita Evangelisti, Giandomenico Russo, Jorge M Santos, Carlo M Croce and Stefano Volinia.Abstract
Results: We report here that compatible solutes from hyperthermophiles increased the performance of the hybridization buffer for Affymetrix GeneChip® arrays. The experimental setup included independent hybridizations with constant RNA over a wide range of compatible solute
concentrations. The dependence of array quality and compatible solute was assessed using specialized statistical tools provided by both the proprietary Affymetrix quality control system and the open source Bioconductor suite.
Conclusion: Low concentration (10 to 25 mM) of hydroxyectoine, potassium mannosylglycerate and potassium diglycerol phosphate in hybridization buffer positively affected hybridization parameters and enhanced microarrays outcome. This finding harbours a strong potential for the improvement of DNA microarray experiments.buy tadalafil no prescription
By João Inácio, Orfeu Flores and Isabel Spencer-Martins
We developed a rapid and reliable molecular identification system for clinically relevant yeasts that makes use of nonspecific primers to amplify a region of the 26S rRNA gene, followed by reverse hybridization of the digoxigenin-labeled products to a panel of species-specific oligonucleotide probes arranged on a nylon membrane macroarray format. DNA amplification was achieved by the recently developed loop-mediated isothermal DNA amplification technology, a promising option for the development of improved laboratory diagnostic kits.
The newly developed method was successful in distinguishing among the major clinically relevant yeasts associated with bloodstream infections by using simple, rapid, and cost-effective procedures and equipment.buy tadalafil no prescription
By Maria do Céu Silva, Jorge Gaspar1, Isabel Duarte Silva1, Daniela Leão and José Rueff
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By Joaquim Calado, Karina Soto, Carla Clemente, Pedro Correia and José Rueff
Abstract
tubular disorder. A homozygous nonsense mutation in the
SLC5A2 gene, encoding the sodium/glucose co-transporter
SGLT2, has recently been identified in an affected
child of consanguineous parents. We now report novel
compound heterozygous mutations in the son of non-consanguineous
parents. One allele has a p.Q167fsX186 mutation,
which is expected to produce a truncated protein,
and the other a p.N654S mutation involving a highly conserved
residue. These findings confirm that mutations in
the SLC5A2 gene are responsible for recessive renal glucosuria.buy tadalafil no prescription
By Maria-Manuel Sampaio, Fabienne Chevance, Renate Dippel, Tanja Eppler, Anja Schlegel,
Winfried Boos, Ying-Jie Lu, and Charles O. Rock
-Mannosyl-D-glycerate (MGs) has been recognized as an osmolyte in hyperthermophilic but not mesophilic prokaryotes. We report that MG is taken up and utilized as sole carbon source by Escherichia coli K12, strainMC4100.UptakeismediatedbytheP-enolpyruvatedependent phosphotransferase system with the MGinducible HrsA (now called MngA) protein as its specific EIIABC complex. The apparent Kbuy tadalafil of MG uptake in induced cells was 10 μM, and the Vmax was 0.65 nmol/min/109 cells. Inverted membrane vesicles harboring plasmid-encoded MngA phosphorylated MG in a P-enolpyruvate-dependent manner. A deletion mutant in mngA was devoid of MG transport but is complemented by a plasmid harboring mngA. Uptake of MG in MC4100 also caused induction of a regulon specifying the uptake and the metabolism of galactarate and glucarate controlled by the CdaR activator. The ybgG gene (now called mngB) the gene immediately downstream of mngA encodes a protein with-mannosidase activity. farR, the gene upstream of mngA (now called mngR) had previously been characterized as a fatty acyl-responsive regulator; however, deletion of mngR resulted in the up-regulation of only two genes, mngA and mngB. The mngR deletion caused constitutive MG transport that became MG-inducible after transformation with plasmid expressed mngR. Thus, MngR is the regulator (repressor) of the MG transport/metabolism system. Thus, the mngR mngA mngB gene cluster encodes an MG utilizing system.buy tadalafil no prescription
By Cristiana Paulo; Cristina Mourão; Pedro M. Veiga; Joana M. Marques; Graça Rocha; Ana F. Alves; Amparo Querol; António A. Meliço-Silvestre; Isabel Gonçalves; Orfeu Flores; Carla Clemente; Teresa Gonçalves
We then re-identified the same isolates using RFLP of the ITS 5.8S rRNA gene and sequence of the D1/D2 domain of the 26S rRNA gene. Candida parapsilosis isolates were re-identified using the Ban I digestion of the SADH gene. C. albicans was the most frequently isolated of the yeasts found in the analysed specimens, with an overall incidence of 69.6% and then in deceasing order, C. glabrata, C. tropicalis, C. parapsilosis and C. krusei. C. parapsilosis was most frequently recovered from younger patients, decreasing with age, while C. glabrata occurrence increased with age. We found an increased number of cases of fungemia per 100,000 people per year, reaching a maximum of 4.4 during 2006.buy tadalafil no prescription
By S. Lucas, M. da Luz Martins, Orfeu Flores, W. Meyer, I. Spencer-Martins and J. InácioAbstract
Keywords: Cryptococcus gattii, Cryptococcus neoformans, loopmediated isothermal DNA amplification
