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

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

TRY plant trait database - enhanced coverage and open access

Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Transtorno autístico e doença celíaca : sem evidências de associação

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 possível associação entre doença celíaca (DC) e/ou sensibilidade ao glúten (SG) e transtorno do espectro autista (TEA). Métodos: Ocorrências de DC foram determinadas em um grupo de crianças e adolescentes afetados pelo TEA e a ocorrência d TEA foi avaliada em um grupo de pacientes com DC comprovada por biópsia. Para detectar a possível existência de SG, foram determinados níveis de anticorpos antigliadina em pacientes com TEA e comparados ao grupo de crianças sem a doença celíaca. Resultados: A prevalência de DC ou SG não foi maior no grupo de pacientes com TEA quando comparada a grupos de indivíduos originários da mesma região geográfca. De modo similar, a prevalência do TEA não foi maior ao ser comparada ao grupo de pacientes com DC. Conclusão: Não houve associação estatisticamente demonstrável entre DC ou SG e TEA. Consequentemente, não são justifcáveis, no momento, exames de rotina para detecção de DC ou SG em pacientes com TEA

Inducible high-efficiency CRISPR-Cas9-targeted gene editing and precision base editing in African trypanosomes

The Cas9 endonuclease can be programmed by guide RNA to introduce sequence-specific breaks in genomic DNA. Thus, Cas9-based approaches present a range of novel options for genome manipulation and precision editing. African trypanosomes are parasites that cause lethal human and animal diseases. They also serve as models for studies on eukaryotic biology, including 'divergent' biology. Genome modification, exploiting the native homologous recombination machinery, has been important for studies on trypanosomes but often requires multiple rounds of transfection using selectable markers that integrate at low efficiency. We report a system for delivering tetracycline inducible Cas9 and guide RNA to Trypanosoma brucei. In these cells, targeted DNA cleavage and gene disruption can be achieved at close to 100% efficiency without further selection. Disruption of aquaglyceroporin (AQP2) or amino acid transporter genes confers resistance to the clinical drugs pentamidine or eflornithine, respectively, providing simple and robust assays for editing efficiency. We also use the new system for homology-directed, precision base editing; a single-stranded oligodeoxyribonucleotide repair template was delivered to introduce a single AQP2 - T 791G/L 264R mutation in this case. The technology we describe now enables a range of novel programmed genome-editing approaches in T. brucei that would benefit from temporal control, high-efficiency and precision. </p

Origins of cattle on Chirikof Island, Alaska, elucidated from genome-wide SNP genotypes

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The view of teachers on bullying and implications for nursing

Objetivo: Compreender o bullying escolar, na perspectiva dos professores, e refletir sobre as possíveis ações da área da saúde em seu enfrentamento. Para tanto, tomaram- se por base as diretrizes do Programa Saúde na Escola, dos Ministérios da Saúde e da Educação. Método: Estudo de caso qualitativo, realizado com professores de uma escola pública de Minas Gerais. Foram utilizados grupos focais na coleta de dados e o material empírico foi decodificado a partir de técnica de análise temática de conteúdo, resultando em uma categoria analítica: concepções e experiências de professores diante do bullying. Resultados: Foram identificadas percepções pontuais sobre o fenômeno e utilização de recursos de intervenção pouco eficazes. No plano interpretativo, problematizaram-se as contribuições da saúde e da enfermagem no redimensionamento das intervenções e no processo de formação continuada dos professores. Conclusão: Os resultados apontam para a construção de práticas intersetoriais para o enfrentamento do bullying.To understand school bullying from the perspective of teachers and reflect about the possible actions of the health area when coping with it. The guidelines of the School Health Program of the Ministries of Health and Education were used to reach that purpose. Method: A qualitative study carried out with teachers of a public school in Minas Gerais. Focus groups were used to collect data and the empirical material was decoded from thematic analysis of content, resulting in an analytical category: conceptions and experiences of teachers on bullying. Results: Specific perceptions about the phenomenon and the use of ineffective intervention resources were identified. In the interpretive plan were problematized the health and nursing contributions with resizing the interventions and the continuing training process of teachers. Conclusion: The results point to the construction of intersectoral practices forcoping with bullying.Objetivo: Comprender el bullying escolar desde la perspectiva de los profesores, y reflexionar sobre las posibles acciones del área de salud en su enfrentamiento. Tomando como base los lineamientos del Programa de Salud Escolar, de los Ministerios de Salud y de Educación. Método: Estudio de caso cualitativo realizado con los profesores de una escuela pública en Minas Gerais. Para la recolección de datos se utilizaron grupos focales y el material empírico fue decodificado a partir de la técnica de análisis temático de contenido, dando lugar a una categoría analítica: concepciones y experiencias de los profesores sobre el acoso escolar. Resultados: Se identificaron percepciones específicas sobre el fenómeno y la utilización de recursos ineficaces de intervención. En el plano interpretativo, se problematizaron las contribuciones de la salud y de la enfermería en el redimensionamiento de las intervenciones y en el proceso de formación continua de los profesores. Conclusión: Los resultados apuntan a la construcción de prácticas intersectoriales para el enfrentamiento del bullying.CIEC - Centro de Investigação em Estudos da Criança, UM (UI 317 da FCT

Medicinal plants used by women in Mecca: urban, Muslim and gendered knowledge

Background: This study explores medicinal plant knowledge and use among Muslim women in the city of Mecca, Saudi Arabia. Ethnobotanical research in the region has focused on rural populations and male herbal healers in cities, and based on these few studies, it is suggested that medicinal plant knowledge may be eroding. Here, we document lay, female knowledge of medicinal plants in an urban centre, interpreting findings in the light of the growing field of urban ethnobotany and gendered knowledge and in an Islamic context. Methods: Free-listing, structured and semi-structured interviews were used to document the extent of medicinal plant knowledge among 32 Meccan women. Vernacular names, modes of preparation and application, intended therapeutic use and emic toxicological remarks were recorded. Women were asked where they learnt about medicinal plants and if and when they preferred using medicinal plants over biomedical resources. Prior informed consent was always obtained. We compared the list of medicinal plants used by these Meccan women with medicinal plants previously documented in published literature. Results: One hundred eighteen vernacular names were collected, corresponding to approximately 110 plants, including one algae. Of these, 95 were identified at the species level and 39 (41%) had not been previously cited in Saudi Arabian medicinal plant literature. Almost one half of the plants cited are food and flavouring plants. Meccan women interviewed learn about medicinal plants from their social network, mass media and written sources, and combine biomedical and medicinal plant health care. However, younger women more often prefer biomedical resources and learn from written sources and mass media. Conclusions: The fairly small number of interviews conducted in this study was sufficient to reveal the singular body of medicinal plant knowledge held by women in Mecca and applied to treat common ailments. Plant availability in local shops and markets and inclusion in religious texts seem to shape the botanical diversity used by the Meccan women interviewed, and the use of foods and spices medicinally could be a global feature of urban ethnobotany. Ethnobotanical knowledge among women in Islamic communities may be changing due to access to mass media and biomedicine. We recognise the lack of documentation of the diversity of medicinal plant knowledge in the Arabian Peninsula and an opportunity to better understand gendered urban and rural knowledge

Neutralising antibodies for West Nile virus in horses from Brazilian Pantanal

Despite evidence of West Nile virus (WNV) activity in Colombia, Venezuela and Argentina, this virus has not been reported in most South American countries. In February 2009, we commenced an investigation for WNV in mosquitoes, horses and caimans from the Pantanal, Central-West Brazil. The sera of 168 horses and 30 caimans were initially tested using a flaviviruses-specific epitope-blocking enzyme-linked immunosorbent assay (blocking ELISA) for the detection of flavivirus-reactive antibodies. The seropositive samples were further tested using a plaque-reduction neutralisation test (PRNT90) for WNV and its most closely-related flaviviruses that circulate in Brazil to confirm the detection of specific virus-neutralising antibodies. Of the 93 (55.4%) blocking ELISA-seropositive horse serum samples, five (3%) were seropositive for WNV, nine (5.4%) were seropositive for St. Louis encephalitis virus, 18 (10.7%) were seropositive for Ilheus virus, three (1.8%) were seropositive for Cacipacore virus and none were seropositive for Rocio virus using PRNT90, with a criteria of > four-fold antibody titre difference. All caimans were negative for flaviviruses-specific antibodies using the blocking ELISA. No virus genome was detected from caiman blood or mosquito samples. The present study is the first report of confirmed serological evidence of WNV activity in Brazil

The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma

We are grateful to Paulo Vieira, Cecília Leão, Manuel T. Silva, Nuno Sousa, Jorge Correia- Pinto, Joana Palha, Margarida Correia-Neves, Margarida Lima and Matthew Berry for all their input throughout these studies and critical reading of the manuscript. We are grateful to the patients who joint this study as well as to all members of the Life and Health Sciences Research Institute and School of Health Sciences, University of Minho, who contributed in any way to the development of this workNon-Hodgkin lymphoma (NHL) has been associated with immunological defects, chronic inflammatory and autoimmune conditions. Given the link between immune dysfunction and NHL, genetic variants in toll-like receptors (TLRs) have been regarded as potential predictive factors of susceptibility to NHL. Adequate anti-tumoral responses are known to depend on TLR9 function, such that the use of its synthetic ligand is being targeted as a therapeutic strategy. We investigated the association between the functional rs5743836 polymorphism in the TLR9 promoter and risk for B-cell NHL and its major subtypes in three independent case-control association studies from Portugal (1160 controls, 797 patients), Italy (468 controls, 494 patients) and the US (972 controls, 868 patients). We found that the rs5743836 polymorphism was significantly overtransmitted in both Portuguese (odds ratio (OR), 1.85; P=7.3E-9) and Italian (OR, 1.84; P=6.0E-5) and not in the US cohort of NHL patients. Moreover, the increased transcriptional activity of TLR9 in mononuclear cells from patients harboring rs5743836 further supports a functional effect of this polymorphism on NHL susceptibility in a population-dependent manner.AC, NSO, MTC, and AJA were financially supported by a fellowship from Fundação para a Ciência e Tecnologia, Portugal. MS is a Ciência 2007 fellow. This study was supported by Fundação para a Ciência e Tecnologia, Portugal (PIC/IC/83313/2007) and by Fundação Calouste Gulbenkian, Serviço de Saúde e Desenvolvimento Humano, Portugal (Grant Number:Proc/60666-MM/734). CFS, PB and LC were supported by National Institutes of Health (NIH) grants CA122663 and CA104682, and PB also by NIH grants CA45614 and CA89745

Ovarian cancer

Ovarian cancer is not a single disease and can be subdivided into at least five different histological subtypes that have different identifiable risk factors, cells of origin, molecular compositions, clinical features and treatments. Ovarian cancer is a global problem, is typically diagnosed at a late stage and has no effective screening strategy. Standard treatments for newly diagnosed cancer consist of cytoreductive surgery and platinum-based chemotherapy. In recurrent cancer, chemotherapy, anti-angiogenic agents and poly(ADP-ribose) polymerase inhibitors are used, and immunological therapies are currently being tested. High-grade serous carcinoma (HGSC) is the most commonly diagnosed form of ovarian cancer and at diagnosis is typically very responsive to platinum-based chemotherapy. However, in addition to the other histologies, HGSCs frequently relapse and become increasingly resistant to chemotherapy. Consequently, understanding the mechanisms underlying platinum resistance and finding ways to overcome them are active areas of study in ovarian cancer. Substantial progress has been made in identifying genes that are associated with a high risk of ovarian cancer (such as BRCA1 and BRCA2), as well as a precursor lesion of HGSC called serous tubal intraepithelial carcinoma, which holds promise for identifying individuals at high risk of developing the disease and for developing prevention strategies