The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9

<p>Abstract</p> <p>Background</p> <p>Dogs have the second largest number of genetic diseases, after humans. Among the diseases present in dogs, progressive retinal atrophy has been reported in more than a hundred breeds. In some of them, the mutation has been identified and genetic tests have allowed the identification of carriers, thus enabling a drastic reduction in the incidence of the disease. The Finnish lapphund is a dog breed presenting late-onset progressive retinal atrophy for which the disease locus remains unknown.</p> <p>Results</p> <p>In this study we mapped the progressive retinal atrophy locus in the Finnish lapphund using a DNA pooling approach, assuming that all affected dogs within the breed share the same identical-by descent-mutation as the cause of the disease (genetic homogeneity). Autosomal recessive inheritance was also assumed, after ruling out, from pedigree analysis, dominant and X-linked inheritance. DNA from 12 Finnish lapphund cases was mixed in one pool, and DNA from 12 first-degree relatives of these cases was mixed to serve as the control pool. The 2 pools were tested with 133 microsatellite markers, 3 of which showed a shift towards homozygosity in the cases. Individual genotyping with these 3 markers confirmed homozygosity for the GALK1 microsatellite only (chromosome 9). Further individual genotyping with additional samples (4 cases and 59 controls) confirmed the association between this marker and the disease locus (p < 0.001). Closely related to this breed are the Swedish lapphund and the Lapponian herder for which a small number of retinal atrophy cases have been reported. Swedish lapphund cases, but not Lapponian herder cases, had the same GALK1 microsatellite genotype as Finnish lapphund cases.</p> <p>Conclusion</p> <p>The locus for progressive rod-cone degeneration is known to be close to the GALK1 locus, on the telomeric region of chromosome 9, where the retinal atrophy locus of the Finnish lapphund has been mapped. This suggests that the disease in this breed, as well as in the Swedish lapphund, may correspond to progressive rod-cone degeneration. This would increase the number of known dog breeds having this particular form of progressive retinal atrophy.</p

Integrating Deep-Web Information Sources

Deep-web information sources are difficult to integrate into automated business processes if they only provide a search form. A wrapping agent is a piece of software that allows a developer to query such information sources without worrying about the details of interacting with such forms. Our goal is to help soft ware engineers construct wrapping agents that interpret queries written in high-level structured languages. We think that this shall definitely help reduce integration costs because this shall relieve developers from the burden of transforming their queries into low-level interactions in an ad-hoc manner. In this paper, we report on our reference framework, delve into the related work, and highlight current research challenges. This is intended to help guide future research efforts in this area.Ministerio de Educación y Ciencia TIN2007-64119Junta de Andalucía P07-TIC-2602Junta de Andalucía P08-TIC-4100Ministerio de Ciencia e Innovación TIN2008-04718-

Analysis of waste electrical and electronic equipment (WEEE) using laser induced breakdown spectroscopy (LIBS) and multivariate analysis

This study shows the application of laser induced breakdown spectroscopy (LIBS) for waste electrical and electronic equipment (WEEE) investigation. Several emission spectra were obtained for 7 different mobiles from 4 different manufacturers. Using the emission spectra of the black components it was possible to see some differences among the manufacturers and some emission lines from organic elements and molecules (N, O, CN and C2) led to the highest contribution for this differentiation. Some polymeric internal parts in contact with the inner pieces of the mobiles and covered with a special paint presented a strong emission signal for Cr. The white pieces presented mainly Al, Ba and Ti in their composition. Finally, this study developed a procedure for LIBS emission spectra using chemometric strategies and suitable information can be obtained for identification of manufacturer and counterfeit products. In addition, the results obtained can improve the classification for establishing recycling strategies of e-waste.The authors are grateful to Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES- DGU, Grant 243/11), to the Spanish Government (Projects CTQ2008-06730-C02-01, CTQ2011-23968 and PHB2010-0018-PC), to Conselho Nacional de Desenvolvimento Científico e Tecnológico, CNPq (grants 304772/2012-7 and 474357/2012-0), and to Grant 2012/01769-3, São Paulo Research Foundation (FAPESP) for the financial support

Short communication: Effects of the addition of a marigold extract to diets fed to channel catfish (Ictalurus punctatus) on growth parameters

The expansion of aquaculture in the last 10 years has made it an important source of protein worldwide. However, increased production, and the culture intensification it carries, results in higher risk of infectious disease due to poor water quality and high stocking densities. ... Marigold (Tagetes erecta L.) is a plant native to Mexico whose flowers accumulate carotenoids. Natural carotenoids extracted from marigold have been used in aquaculture to help in the survival of fish juvenile stages by strengthening their immunological system, thus reducing mortality rates. The effect of carotenoids in fish health may exert a positive effect on fish growth indices; however, these effects on growth parameters have not been studied in channel catfish (Ictalurus punctatus), which is the most cultured fish species in north-eastern Mexico, and one of the most cultured on the southern United States. Consequently, the aim of this study was to investigate if there were significant differences in growth among channel catfish juveniles when fed diets containing various carotenoid doses from a natural source

Short communication: Effects of the addition of a marigold extract to diets fed to channel catfish (Ictalurus punctatus) on growth parameters

The expansion of aquaculture in the last 10 years has made it an important source of protein worldwide. However, increased production, and the culture intensification it carries, results in higher risk of infectious disease due to poor water quality and high stocking densities. ... Marigold (Tagetes erecta L.) is a plant native to Mexico whose flowers accumulate carotenoids. Natural carotenoids extracted from marigold have been used in aquaculture to help in the survival of fish juvenile stages by strengthening their immunological system, thus reducing mortality rates. The effect of carotenoids in fish health may exert a positive effect on fish growth indices; however, these effects on growth parameters have not been studied in channel catfish (Ictalurus punctatus), which is the most cultured fish species in north-eastern Mexico, and one of the most cultured on the southern United States. Consequently, the aim of this study was to investigate if there were significant differences in growth among channel catfish juveniles when fed diets containing various carotenoid doses from a natural source

Time to desaturation in the 6-min walking distance test predicts 24-hour oximetry in COPD patients with a PO2 between 60 and 70mmHg

SummaryBackgroundThe 6-min walking distance (6MWD) test is a useful tool for assessing patients with chronic obstructive pulmonary disease (COPD), but little is known about the changes in oxygen saturation that occur during the test.ObjectiveTo predict the oximetry profile during daily living activities by the time to desaturation in the 6MWD test in COPD-affected patients.Patients and methodsWe studied 67 COPD patients with moderate hypoxemia performing a 6MWD test and a 24-hour ambulatory pulse oximetry (24-hr PO). We determined the time to desaturation (SatO2⩽90%) in the 6MWD test, in the daytime, nighttime and 24-hr PO. We then estimated the time to desaturation that better predicts desaturation in diurnal, nocturnal and 24-hour oximetries using the ROC type II analysis.ResultsThe patients who desaturated after 3′30min have a 100% probability not to desaturate during diurnal, nocturnal and 24-hr PO. Those patients who desaturated during the first minute of the 6MWD test have a 74% probability to desaturate in these oximetries.ConclusionsThe time to desaturation in the 6MWD test can discriminate early desaturators who desaturate during their daily living activities and late desaturators who do not desaturate. Ambulatory oximetry would thus only be necessary in patients with a time to desaturation that ranges between 1 and 3′30″

Combinatorial RNA Design: Designability and Structure-Approximating Algorithm

In this work, we consider the Combinatorial RNA Design problem, a minimal instance of the RNA design problem which aims at finding a sequence that admits a given target as its unique base pair maximizing structure. We provide complete characterizations for the structures that can be designed using restricted alphabets. Under a classic four-letter alphabet, we provide a complete characterization of designable structures without unpaired bases. When unpaired bases are allowed, we provide partial characterizations for classes of designable/undesignable structures, and show that the class of designable structures is closed under the stutter operation. Membership of a given structure to any of the classes can be tested in linear time and, for positive instances, a solution can be found in linear time. Finally, we consider a structure-approximating version of the problem that allows to extend bands (helices) and, assuming that the input structure avoids two motifs, we provide a linear-time algorithm that produces a designable structure with at most twice more base pairs than the input structure.Comment: CPM - 26th Annual Symposium on Combinatorial Pattern Matching, Jun 2015, Ischia Island, Italy. LNCS, 201

Identificación preliminar in vitro de propiedades probióticas en cepas de S. cerevisiae

Objetivo. Evaluar preliminarmente in vitro algunas propiedades probióticas de dos cepas nativas de S.cerevisiae. Materiales y métodos. Las cepas fueron utilizadas en ensayos de tolerancia a sales biliares, pH, temperatura, adherencia a Salmonella spp., E.coli y Shigella spp., y antagonismo. Se realizó un diseño factorial 33 x 3, con tres niveles de cada factor (cepa, pH y concentración inicial de sustrato) por triplicado, para establecer las condiciones de cultivo de cada cepa. Como control se empleó una cepa comercial (B). La cepa seleccionada se empleó para la producción en biorreactor de 2L; la biomasa fue sometida a secado por temperatura; al producto resultante se le determinó concentración de N2 y la viabilidad celular. Resultados. La cepa A (obtenida de caña de azúcar), toleró pH 3 ± 0.2, 0.3% (p/v) de sales biliares y 42oC. El ANOVA del diseño factorial reportó diferencias significativas entre los 27 ensayos (p≤0.05), el análisis de superficies reportó que la interacción entre los factores cepa y Sustrato (S0) son significativos, sugiriendo para la optimización la cepa A y concentraciones crecientes de S0. Los resultados se reprodujeron en biorreactor con mx 0.31h-1, td 2.18h y Y(x/s) 0.126g/g; la biomasa seca obtenida fue viable y reportó entre 6.3 y 6.9% N2/g. Conclusiones. Se identificaron levaduras nativas con propiedades probióticas como tolerancia a pH, sales biliares, temperatura y adherencia a Salmonella spp., E.coli y Shigella spp

Disruption of chromosome 11 in canine fibrosarcomas highlights an unusual variability of CDKN2B in dogs.

BACKGROUND: In dogs in the western world neoplasia constitutes the most frequently diagnosed cause of death. Although there appear to be similarities between canine and human cancers, rather little is known about the cytogenetic and molecular alterations in canine tumours. Different dog breeds are susceptible to different types of cancer, but the genetic basis of the great majority of these predispositions has yet to be discovered. In some retriever breeds there is a high incidence of soft tissue sarcomas and we have previously reported alterations of chromosomes 11 and 30 in two poorly differentiated fibrosarcomas. Here we extend our observations and present a case report on detail rearrangements on chromosome 11 as well as genetic variations in a tumour suppressor gene in normal dogs. RESULTS: BAC hybridisations on metaphases of two fibrosarcomas showed complex rearrangements on chromosome 11, and loss of parts of this chromosome. Microsatellite markers on a paired tumour and blood DNA pointed to loss of heterozygosity on chromosome 11 in the CDKN2B-CDKN2A tumour suppressor gene cluster region. PCR and sequencing revealed the homozygous loss of coding sequences for these genes, except for exon 1beta of CDKN2A, which codes for the N-terminus of p14ARF. For CDKN2B exon 1, two alleles were observed in DNA from blood; one of them identical to the sequence in the dog reference genome and containing 4 copies of a 12 bp repeat found only in the canine gene amongst all species so far sequenced; the other allele was shorter due to a missing copy of the repeat. Sequencing of this exon in 141 dogs from 18 different breeds revealed a polymorphic region involving a GGC triplet repeat and a GGGGACGGCGGC repeat. Seven alleles were recorded and sixteen of the eighteen breeds showed heterozygosity. CONCLUSION: Complex chromosome rearrangements were observed on chromosome 11 in two Labrador retriever fibrosarcomas. The chromosome alterations were reflected in the loss of sequences corresponding to two tumour suppressor genes involved in cell-cycle progression. Sequencing of CDKN2B across many different breeds revealed a widespread polymorphism within the first exon of the gene, immediately before the ankyrin coding sequences