Recent artificial selection in U.S. Jersey cattle impacts autozygosity levels of specific genomic regions

Background: Genome signatures of artificial selection in U.S. Jersey cattle were identified by examining changes in haplotype homozygosity for a resource population of animals born between 1953 and 2007. Genetic merit of this population changed dramatically during this period for a number of traits, especially milk yield. The intense selection underlying these changes was achieved through extensive use of artificial insemination (AI), which also increased consanguinity of the population to a few superior Jersey bulls. As a result, allele frequencies are shifted for many contemporary animals, and in numerous cases to a homozygous state for specific genomic regions. The goal of this study was to identify those selection signatures that occurred after extensive use of AI since the 1960, using analyses of shared haplotype segments or Runs of Homozygosity. When combined with animal birth year information, signatures of selection associated with economically important traits were identified and compared to results from an extended haplotype homozygosity analysis. Results: Overall, our results reveal that more recent selection increased autozygosity across the entire genome, but some specific regions increased more than others. A genome-wide scan identified more than 15 regions with a substantial change in autozygosity. Haplotypes found to be associated with increased milk, fat and protein yield in U.S. Jersey cattle also consistently increased in frequency. Conclusions: The analyses used in this study was able to detect directional selection over the last few decades when individual production records for Jersey animals were available

Developing agreement on never events in primary care dentistry:an international eDelphi study

Introduction: Never events (NEs) are a subset of serious patient safety incidents that should not occur if appropriate preventive measures are implemented. Although there is a consensus in medicine, there is no agreement on NEs in dentistry. Aim: To identify NEs in primary care dentistry. Method: We undertook an electronic Delphi exercise to develop an international agreement on NEs for primary care dentistry. Results: We initially identified candidate NEs through a scoping review of the literature and then analysed dentistry-related reports in a national incident reporting system. Next, we invited an international panel of 41 experts to complete two rounds of questionnaires; 32 agreed to participate (78%) and completed the first round and 29/41 (71%) members completed the second round. We provided anonymised controlled feedback between rounds and used a cut-off of 80% agreement to define consensus. Consensus was achieved for 23 out of 42 candidate NEs. These related to routine assessment, and pre-operative, intra-operative and post-operative stages of dental procedures. Discussion and conclusion: To our knowledge, this is the first international expert consensus-based approach that has identified NEs for primary care dentistry. We suggest that dental regulators consider these to support quality assessment and governance activities

Haplotype Analysis Improved Evidence for Candidate Genes for Intramuscular Fat Percentage from a Genome Wide Association Study of Cattle

In genome wide association studies (GWAS), haplotype analyses of SNP data are neglected in favour of single point analysis of associations. In a recent GWAS, we found that none of the known candidate genes for intramuscular fat (IMF) had been identified. In this study, data from the GWAS for these candidate genes were re-analysed as haplotypes. First, we confirmed that the methodology would find evidence for association between haplotypes in candidate genes of the calpain-calpastatin complex and musculus longissimus lumborum peak force (LLPF), because these genes had been confirmed through single point analysis in the GWAS. Then, for intramuscular fat percent (IMF), we found significant partial haplotype substitution effects for the genes ADIPOQ and CXCR4, as well as suggestive associations to the genes CEBPA, FASN, and CAPN1. Haplotypes for these genes explained 80% more of the phenotypic variance compared to the best single SNP. For some genes the analyses suggested that there was more than one causative mutation in some genes, or confirmed that some causative mutations are limited to particular subgroups of a species. Fitting the SNPs and their interactions simultaneously explained a similar amount of the phenotypic variance compared to haplotype analyses. Haplotype analysis is a neglected part of the suite of tools used to analyse GWAS data, would be a useful method to extract more information from these data sets, and may contribute to reducing the missing heritability problem

Caracterização dos idosos usuários de medicação residentes em instituição de longa permanência

Os objetivos deste estudo foram caracterizar os idosos residentes em uma Instituição de Longa Permanência quanto ao uso de medicamentos e verificar a existência de polifarmácia. Trata-se de estudo descritivo e quantitativo, realizado por meio de dados de um banco originado da pesquisa Perfil de idosos residentes numa Instituição de Longa Permanência para Idosos (ILPIs): proposta de ação de enfermagem/saúde. Foram selecionados 39 idosos que faziam uso de medicação. Os achados evidenciaram predominância de mulheres, com idade entre 80 e 89 anos, que sabem ler e são viúvas. As doenças do aparelho circulatório foram as mais frequentes. Os idosos usavam em média 3,7 medicamentos e 30,8% deles utilizavam polifarmácia. Os medicamentos mais usados foram para as intercorrências do sistema cardiovascular. Verificou-se a presença de medicamentos considerados impróprios para idosos. Espera-se sensibilizar os profissionais de saúde a promoverem o uso racional e cuidadoso de medicamentos para os idosos institucionalizados

Intestinal strongyloidiasis and hyperinfection syndrome

In spite of recent advances with experiments on animal models, strongyloidiasis, an infection caused by the nematode parasite Strongyloides stercoralis, has still been an elusive disease. Though endemic in some developing countries, strongyloidiasis still poses a threat to the developed world. Due to the peculiar but characteristic features of autoinfection, hyperinfection syndrome involving only pulmonary and gastrointestinal systems, and disseminated infection with involvement of other organs, strongyloidiasis needs special attention by the physician, especially one serving patients in areas endemic for strongyloidiasis. Strongyloidiasis can occur without any symptoms, or as a potentially fatal hyperinfection or disseminated infection. Th(2 )cell-mediated immunity, humoral immunity and mucosal immunity have been shown to have protective effects against this parasitic infection especially in animal models. Any factors that suppress these mechanisms (such as intercurrent immune suppression or glucocorticoid therapy) could potentially trigger hyperinfection or disseminated infection which could be fatal. Even with the recent advances in laboratory tests, strongyloidiasis is still difficult to diagnose. But once diagnosed, the disease can be treated effectively with antihelminthic drugs like Ivermectin. This review article summarizes a case of strongyloidiasis and various aspects of strongyloidiasis, with emphasis on epidemiology, life cycle of Strongyloides stercoralis, clinical manifestations of the disease, corticosteroids and strongyloidiasis, diagnostic aspects of the disease, various host defense pathways against strongyloidiasis, and available treatment options

Linguagem narrativa e fluência na síndrome de down: uma revisão

A síndrome de Down é uma condição na qual os indivíduos apresentam comprometimento intelectual e alterações de linguagem oral. A disfluência de fala está presente tanto durante a conversa espontânea como em produções orais de narrativas direcionadas. Este estudo teve como principal objetivo revisar a literatura sobre a disfluência e a narrativa em indivíduos com a síndrome de Down, publicada entre 2002 e 2012, em bases de dados eletrônicos. Foram encontrados 17 artigos e selecionados oito, de acordo com os critérios de inclusão e exclusão. Destes, dois discorriam especificamente sobre a disfluência na síndrome de Down, e seis sobre a narrativa nesta população. A deficiência intelectual é parte do fenótipo dos indivíduos com SD e, em decorrência do comprometimento intelectual, prejuízos na aquisição e no desenvolvimento da linguagem. Estudos específicos, principalmente sobre a fluência/disfluência; e, sobre o desempenho na tarefa da narrativa, ainda são escassos e inconclusivos. A disfluência não aparece na maioria das descrições do fenótipo de linguagem dos indivíduos com esta condição, que mereceria, estudos clínicos adicionais