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    Odynophagia and neck pain after exercise

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    Screening a variable germplasm collection of Cucumis melo L. for seedling resistance to Macrophomina phaseolina

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    [EN] We evaluate the seedling resistance to charcoal rot caused by Macrophomina phaseolina in ninety-seven Cucumis melo accessions, from different geographical origins and five F1 generations, derived from crosses of five accessions selected for their resistance. Artificial inoculations with the toothpick method, previously reported to be useful for predicting shoot resistance, were performed, and plants were scored using a scale of disease severity. The average disease severity was calculated for each accession and was used to cluster the accession in five reaction classes. The screening revealed that sources of natural resistance to this fungus are limited. However, seedlings of seven accessions of different botanic groups displayed a resistant response to the stem inoculation, one cantaloup from Israel, one conomon accession from Korea, two wild agrestis and one acidulus from Africa, and two dudaim accessions from Middle East. The response of the F1 progenies varied from susceptibility to high resistance, the latter in progenies from the two agrestis wild types. These results suggest differences in the genetic basis of the resistance in the different selected sources. The resistant accessions are suggested to be screened under field conditions to confirm the level of resistance at adult plant stage and under stressful conditions.This work has been partially funded by the Project No 294/13 of the Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior CAPES (Brazil). M. M. Q. Ambrosio and A. C. A. Dantas thank CAPES for their research fellowships. B.Pico thanks the Programa Hispano-Brasileno de Cooperacion Universitaria HBP2012-008 and PHBP14/00021 and to the MINECO project AGL2014-53398-C2-2-R.Ambrosio, MM.; Dantas, AC.; Martinez Perez, EM.; Medeiros, AC.; Sousa Nunes, GHD.; PicĂł Sirvent, MB. (2015). 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    Assessing the Health of Richibucto Estuary with the Latent Health Factor Index

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    The ability to quantitatively assess the health of an ecosystem is often of great interest to those tasked with monitoring and conserving ecosystems. For decades, research in this area has relied upon multimetric indices of various forms. Although indices may be numbers, many are constructed based on procedures that are highly qualitative in nature, thus limiting the quantitative rigour of the practical interpretations made from these indices. The statistical modelling approach to construct the latent health factor index (LHFI) was recently developed to express ecological data, collected to construct conventional multimetric health indices, in a rigorous quantitative model that integrates qualitative features of ecosystem health and preconceived ecological relationships among such features. This hierarchical modelling approach allows (a) statistical inference of health for observed sites and (b) prediction of health for unobserved sites, all accompanied by formal uncertainty statements. Thus far, the LHFI approach has been demonstrated and validated on freshwater ecosystems. The goal of this paper is to adapt this approach to modelling estuarine ecosystem health, particularly that of the previously unassessed system in Richibucto in New Brunswick, Canada. Field data correspond to biotic health metrics that constitute the AZTI marine biotic index (AMBI) and abiotic predictors preconceived to influence biota. We also briefly discuss related LHFI research involving additional metrics that form the infaunal trophic index (ITI). Our paper is the first to construct a scientifically sensible model to rigorously identify the collective explanatory capacity of salinity, distance downstream, channel depth, and silt-clay content --- all regarded a priori as qualitatively important abiotic drivers --- towards site health in the Richibucto ecosystem.Comment: On 2013-05-01, a revised version of this article was accepted for publication in PLoS One. See Journal reference and DOI belo

    Epidermolysa bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene

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    BACKGROUND Heritable forms of epidermolysis bullosa (EB) constitute a heterogeneous group of skin disorders of genetic aetiology that are characterised by skin and mucous membrane blistering and ulceration in response to even minor trauma. Here we report the occurrence of EB in three Danish Hereford cattle from one herd. RESULTS Two of the animals were necropsied and showed oral mucosal blistering, skin ulcerations and partly loss of horn on the claws. Lesions were histologically characterized by subepidermal blisters and ulcers. Analysis of the family tree indicated that inbreeding and the transmission of a single recessive mutation from a common ancestor could be causative. We performed whole genome sequencing of one affected calf and searched all coding DNA variants. Thereby, we detected a homozygous 2.4 kb deletion encompassing the first exon of the LAMC2 gene, encoding for laminin gamma 2 protein. This loss of function mutation completely removes the start codon of this gene and is therefore predicted to be completely disruptive. The deletion co-segregates with the EB phenotype in the family and absent in normal cattle of various breeds. Verifying the homozygous private variants present in candidate genes allowed us to quickly identify the causative mutation and contribute to the final diagnosis of junctional EB in Hereford cattle. CONCLUSIONS Our investigation confirms the known role of laminin gamma 2 in EB aetiology and shows the importance of whole genome sequencing in the analysis of rare diseases in livestock

    International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

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    Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by ventricular arrhythmias and progressive ventricular dysfunction. Genetic testing is recommended and a pathogenic variant in an ARVC-associated gene is a major criterion for diagnosis according to the 2010 Task Force Criteria (TFC). As incorrect attribution of a gene to ARVC can contribute to misdiagnosis, we assembled an international multidisciplinary ARVC ClinGen Gene Curation Expert Panel to reappraise all reported ARVC genes. / Methods - Following a comprehensive literature search, six two-member teams conducted blinded independent curation of reported ARVC genes using the semi-quantitative ClinGen framework. /Results - Of 26 reported ARVC genes, only six (PKP2, DSP, DSG2, DSC2, JUP, TMEM43) had strong evidence and were classified as definitive for ARVC causation. There was moderate evidence for two genes, DES and PLN. The remaining 18 genes had limited or no evidence. RYR2 was refuted as an ARVC gene since clinical data and model systems exhibited a catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype. In ClinVar, only 5 pathogenic / likely pathogenic (P/LP) variants (1.1%) in limited evidence genes had been reported in ARVC cases in contrast to 450 desmosome gene variants (97.4%). / Conclusions - Using the ClinGen approach to gene-disease curation, only eight genes, (PKP2, DSP, DSG2, DSC2, JUP, TMEM43, PLN, DES) had definitive or moderate evidence for ARVC and these genes accounted for nearly all P/LP ARVC variants in ClinVar. Therefore, only P/LP variants in these eight genes should yield a major criterion for ARVC diagnosis. P/LP variants identified in other genes in a patient should prompt further phenotyping as variants in many of these genes are associated with other cardiovascular conditions

    Transtorno autĂ­stico e doença celĂ­aca : sem evidĂȘncias de associação

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    Objective: To evaluate the possible association between celiac disease (CD) and/or gluten sensitivity (GS) and autism spectrum disorder (ASD). Methods: Occurrences of CD were determined in a group of children and adolescents affected by ASD and, conversely, occurrences of ASD were assessed in a group of biopsy-proven celiac patients. To detect the possible existence of GS, the levels of antigliadin antibodies in ASD patients were assessed and compared with the levels in a group of non-celiac children. Results: The prevalence of CD or GS in ASD patients was not greater than in groups originating from the same geographical area. Similarly the prevalence of ASD was not greater than in a group of biopsy-proven CD patients. Conclusion: No statistically demonstrable association was found between CD or GS and ASD. Consequently, routine screening for CD or GS in all patients with ASD is, at this moment, neither justifed nor cost-effective. ___________________________________________________________________________________ RESUMOObjetivo: Avaliar a possĂ­vel associação entre doença celĂ­aca (DC) e/ou sensibilidade ao glĂșten (SG) e transtorno do espectro autista (TEA). MĂ©todos: OcorrĂȘncias de DC foram determinadas em um grupo de crianças e adolescentes afetados pelo TEA e a ocorrĂȘncia d TEA foi avaliada em um grupo de pacientes com DC comprovada por biĂłpsia. Para detectar a possĂ­vel existĂȘncia de SG, foram determinados nĂ­veis de anticorpos antigliadina em pacientes com TEA e comparados ao grupo de crianças sem a doença celĂ­aca. Resultados: A prevalĂȘncia de DC ou SG nĂŁo foi maior no grupo de pacientes com TEA quando comparada a grupos de indivĂ­duos originĂĄrios da mesma regiĂŁo geogrĂĄfca. De modo similar, a prevalĂȘncia do TEA nĂŁo foi maior ao ser comparada ao grupo de pacientes com DC. ConclusĂŁo: NĂŁo houve associação estatisticamente demonstrĂĄvel entre DC ou SG e TEA. Consequentemente, nĂŁo sĂŁo justifcĂĄveis, no momento, exames de rotina para detecção de DC ou SG em pacientes com TEA
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