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| 2. |
- Bousquet, J. Jean, et al.
(författare)
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Next-generation ARIA care pathways for rhinitis and asthma : a model for multimorbid chronic diseases
- 2019
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Ingår i: Clinical and Translational Allergy. - : BMC. - 2045-7022. ; 9
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Forskningsöversikt (refereegranskat)abstract
- Background: In all societies, the burden and cost of allergic and chronic respiratory diseases are increasing rapidly. Most economies are struggling to deliver modern health care effectively. There is a need to support the transformation of the health care system into integrated care with organizational health literacy.Main body: As an example for chronic disease care, MASK (Mobile Airways Sentinel NetworK), a new project of the ARIA (Allergic Rhinitis and its Impact on Asthma) initiative, and POLLAR (Impact of Air POLLution on Asthma and Rhinitis, EIT Health), in collaboration with professional and patient organizations in the field of allergy and airway diseases, are proposing real-life ICPs centred around the patient with rhinitis, and using mHealth to monitor environmental exposure. Three aspects of care pathways are being developed: (i) Patient participation, health literacy and self-care through technology-assisted "patient activation", (ii) Implementation of care pathways by pharmacists and (iii) Next-generation guidelines assessing the recommendations of GRADE guidelines in rhinitis and asthma using real-world evidence (RWE) obtained through mobile technology. The EU and global political agendas are of great importance in supporting the digital transformation of health and care, and MASK has been recognized by DG Sante as a Good Practice in the field of digitally-enabled, integrated, person-centred care.Conclusion: In 20 years, ARIA has considerably evolved from the first multimorbidity guideline in respiratory diseases to the digital transformation of health and care with a strong political involvement.
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| 3. |
- Puigvert, Marina, et al.
(författare)
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Type III secretion inhibitors for the management of bacterial plant diseases
- 2019
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Ingår i: Molecular plant pathology. - : John Wiley & Sons. - 1464-6722 .- 1364-3703. ; 20:1, s. 20-32
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Tidskriftsartikel (refereegranskat)abstract
- The identification of chemical compounds that prevent and combat bacterial diseases is fundamental for crop production. Bacterial virulence inhibitors are a promising alternative to classical control treatments, because they have a low environmental impact and are less likely to generate bacterial resistance. The major virulence determinant of most animal and plant bacterial pathogens is the type III secretion system (T3SS). In this work, we screened nine plant extracts and 12 isolated compounds—including molecules effective against human pathogens—for their capacity to inhibit the T3SS of plant pathogens and for their applicability as virulence inhibitors for crop protection. The screen was performed using a luminescent reporter system developed in the model pathogenic bacterium Ralstonia solanacearum. Five synthetic molecules, one natural product and two plant extracts were found to down‐regulate T3SS transcription, most through the inhibition of the regulator hrpB. In addition, for three of the molecules, corresponding to salicylidene acylhydrazide derivatives, the inhibitory effect caused a dramatic decrease in the secretion capacity, which was translated into impaired plant responses. These candidate virulence inhibitors were then tested for their ability to protect plants. We demonstrated that salicylidene acylhydrazides can limit R. solanacearum multiplication in planta and protect tomato plants from bacterial speck caused by Pseudomonas syringae pv. tomato. Our work validates the efficiency of transcription reporters to discover compounds or natural product extracts that can be potentially applied to prevent bacterial plant diseases.
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| 6. |
- Solé Berga, Marina
(författare)
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Drawbacks and consequences of selective strategies in the design of semen banks: Case study of the Pura Raza Espanol horse breed
- 2019
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Ingår i: Livestock Science. - : Elsevier BV. - 1871-1413 .- 1878-0490. ; 226, s. 93-98
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Tidskriftsartikel (refereegranskat)abstract
- Genome resource banks (GRB) are valuable tools for the maintenance of genetic diversity, especially in endangered species or local breeds but also for mainstream breeds. Minimum coancestry criterion is commonly implemented to decide the actual donors contributing to the GRB. This is (more or less) clear for local breeds with a pure conservation emphasis. However, in breeds with a productive or commercial nature other considerations are also taken into account beyond the original objective of the bank, For instance, the breeding criteria used in the living population for the maintenance of the genetic progress could be also implemented in the design of the bank. Using data of the Pura Raza Espahol (PRE) horse breed (males between 3 and 20 years old) as a case study, we aimed to investigate the effect on genetic diversity of different criteria for the selection of the donors (stallions) in the design of a GRB (semen bank). Studied scenarios included (i) minimisation of the global average coancestry; (ii) maximisation of the mean estimated breeding values (EBVs) of the donors with a restriction on the levels of coancestry incurred. We used genealogical (281,052 animals; 138,059 males and 145,869 females) and molecular information (70,572 genotypes from PRE with reproductive capacity), as well as the EBVs for two productive traits (Dressage sport discipline of 9000 males and morphological linear traits of 2597 males). When the genealogical coancestry was the only criterion, increasing the number of donors resulted in continuous increase in diversity stored (for the different parameters used for comparison). When pedigree coancestry was replaced by molecular coancestry results were not so consistent. The inclusion of EBVs as additional selective criteria (searching for the most 'valuable' donors) led to an increased relatedness between donors (and, correspondingly, to a decrease in the diversity kept). In this scenario, the inclusion of individuals with low performance may be arguable depending on the time horizon the bank has been designed for. In any case, in parallel as it is recommended for the management of living populations, restrictions in the levels of genetic diversity (inbreeding) should be included when deciding the sampling scheme.
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| 7. |
- Solé Berga, Marina
(författare)
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Evidence for the effect of serotoninergic and dopaminergic gene variants on stress levels in horses participating in dressage and harness racing
- 2019
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Ingår i: Animal Production Science. - 1836-0939 .- 1836-5787. ; 59, s. 2206-2211
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Tidskriftsartikel (refereegranskat)abstract
- Eye temperature assessed with infrared thermography is an adequate tool for stress level assessment in sport horses' competitions having a moderate heritability. Serotonin and dopamine signal transduction-linked gene variants have been associated with anxiety-related traits in several species. In this study we examined the association between 10 gene variants in BDNF, COMT, HTR1A, TPH2 and SLC6A4 genes (and the haplotypes at SLC6A4 gene) with stress level (measured with eye temperature and heart rate) in 270 animals, 135 Spanish Trotter Horses (STH) participating in trotting races and 135 'Pura Raza Espanol' (PRE) horses in dressage. Association analyses were performed using a unified mixed model (counting for population structure and individual relatedness) for the whole population and for each horse breed. The g.43865600G > A intronic gene variant located 11.0 kb downstream from the transcription start site of SLC6A4 gene was associated with an increase in eye temperature before competition with a relative contribution of this gene variant of 38.8% (P = 0.001), 31.8% just after (P = 0.001) and 29.8% 2 h after the competition (P = 0.003). In STH, the g.43865600G > A gene variant showed the same association with eye temperature before (P = 0.001, contribution 27.2%), just after (P = 0.0003, 29.0%) and after the competition (P = 0.002, 17.5%); and the c.*111G > A gene variant located at the 3'UTR region of COMT gene was associated with eye temperature 2 h after the competition (P = 0.001, 22.3%). These results showed that SLC6A4 and COMT gene variants are associated with stress level measured as eye temperature increase during competitions, and may be promising tools for genetic testing against resistance at high stress levels in trotter horses.
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| 8. |
- Solé Berga, Marina
(författare)
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Genetic and environmental risk factors for vitiligo and melanoma in Pura Raza Espanol horses
- 2019
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Ingår i: Equine Veterinary Journal. - : Wiley. - 0425-1644 .- 2042-3306. ; 51, s. 606-611
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Tidskriftsartikel (refereegranskat)abstract
- Background Vitiligo and melanoma are relatively common disorders in grey Pura Raza Espanol horses and other horse breeds with grey-coloured coats. Objectives To determine the breed prevalence, environmental risks factors and estimate the genetic parameters for vitiligo and melanoma in Pura Raza Espanol horses. Study design Retrospective cohort study. Methods We analysed data from a large worldwide population of Pura Raza Espanol horses. The database included the vitiligo and melanoma scores, on either a four- or six-point linear scale, of 11,436 horses. Genetic parameters were estimated using a Bayesian genetic animal model including the four associated environmental risk factors as systematic effects. Inbreeding was used as a covariate, and animal and residual effects were included as random effects. Results Of the horses included in the study, 2.8 and 20.5% showed some traces of vitiligo around the eyes and mouth, respectively, while 1.6% showed varying degrees of melanoma. Age, coat colour and inbreeding were significantly associated with the three outcomes studied. The estimated heritability for the whole population was 0.09 (s.d. +0.019), 0.44 (s.d. +0.031) and 0.13 (s.d. +0.037), for eye vitiligo score, nostril vitiligo score and melanoma scores respectively. The genetic correlations ranged from 0.42 (s.d. +0.084) between eye and nostril vitiligo score to 0.15 (s.d. +0.096) between nostril vitiligo and melanoma. Main limitations Vitiligo scores for the perianal regions were not collected. The veterinarian responsible for each assessment was not recorded. Conclusions Vitiligo and melanoma are prevalent in this population and those environmental risk factors and genetics both have an effect on the clinical expression of the diseases. These findings may help to reduce prevalence through breeding programmes.
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| 9. |
- Sole, Marina, et al.
(författare)
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Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds
- 2019
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Ingår i: BMC Genomics. - : BMC. - 1471-2164. ; 20:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Copy Number Variation (CNV) is a common form of genetic variation underlying animal evolution and phenotypic diversity across a wide range of species. In the mammalian genome, high frequency of CNV differentiation between breeds may be candidates for population-specific selection. However, CNV differentiation, selection and its population genetics have been poorly explored in horses. Results We investigated the patterns, population variation and gene annotation of CNV using the Axiom (R) Equine Genotyping Array (670,796 SNPs) from a large cohort of individuals (N = 1755) belonging to eight European horse breeds, varying from draught horses to several warmblood populations. After quality control, 152,640 SNP CNVs (individual markers), 18,800 segment CNVs (consecutive SNP CNVs of same gain/loss state or both) and 939 CNV regions (CNVRs; overlapping segment CNVs by at least 1 bp) compared to the average signal of the reference (Belgian draught horse) were identified. Our analyses showed that Equus caballus chromosome 12 (ECA12) was the most enriched in segment CNV gains and losses (similar to 3% average proportion of the genome covered), but the highest number of segment CNVs were detected on ECA1 and ECA20 (regardless of size). The Friesian horses showed private SNP CNV gains (> 20% of the samples) on ECA1 and Exmoor ponies displayed private SNP CNV losses on ECA25 (> 20% of the samples). The Warmblood cluster showed private SNP CNV gains located in ECA9 and Draught cluster showed private SNP CNV losses located in ECA7. The length of the CNVRs ranged from 1 kb to 21.3 Mb. A total of 10,612 genes were annotated within the CNVRs. The PANTHER annotation of these genes showed significantly under- and overrepresented gene ontology biological terms related to cellular processes and immunity (Bonferroni P-value < 0.05). We identified 80 CNVRs overlapping with known QTL for fertility, coat colour, conformation and temperament. We also report 67 novel CNVRs. Conclusions This work revealed that CNV patterns, in the genome of some European horse breeds, occurred in specific genomic regions. The results provide support to the hypothesis that high frequency private CNVs residing in genes may potentially be responsible for the diverse phenotypes seen between horse breeds.
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| 10. |
- Velie, Brandon, et al.
(författare)
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A genome-wide association study for harness racing success in the Norwegian-Swedish coldblooded trotter reveals genes for learning and energy metabolism
- 2018
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Ingår i: BMC Genetics. - : Springer Science and Business Media LLC. - 1471-2156. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- Background: Although harness racing is of high economic importance to the global equine industry, significant genomic resources have yet to be applied to mapping harness racing success. To identify genomic regions associated with harness racing success, the current study performs genome-wide association analyses with three racing performance traits in the Norwegian-Swedish Coldblooded Trotter using the 670 K Axiom Equine Genotyping Array.Results: Following quality control, 613 horses and 359,635 SNPs were retained for further analysis. After strict Bonferroni correction, nine genome-wide significant SNPs were identified for career earnings. No genome-wide significant SNPs were identified for number of gallops or best km time. However, four suggestive genome-wide significant SNPs were identified for number of gallops, while 19 were identified for best km time. Multiple genes related to intelligence, energy metabolism, and immune function were identified as potential candidate genes for harness racing success.Conclusions: Apart from the physiological requirements needed for a harness racing horse to be successful, the results of the current study also advocate learning ability and memory as important elements for harness racing success. Further exploration into the mental capacity required for a horse to achieve racing success is likely warranted.
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