Genetic parameters for canalisation analysis of litter size and litter weight traits at birth in mice

[EN] The aim of this research was to explore the genetic parameters associated with environmental variability for litter size (LS), litter weight (LW) and mean individual birth weight (IW) in mice before canalisation. The analyses were conducted on an experimental mice population designed to reduce environmental variability for LS. The analysed database included 1976 records for LW and IW and 4129 records for LS. The total number of individuals included in the analysed pedigree was 3997. Heritabilities estimated for the traits under an initial exploratory approach varied from 0.099 to 0.101 for LS, from 0.112 to 0.148 for LW and from 0.028 to 0.033 for IW. The means of the posterior distribution of the heritability under a Bayesian approach were the following: 0.10 (LS), 0.13 (LW) and 0.03 (IW). In general, the heritabilities estimated under the initial exploratory approach for the environmental variability of the analysed traits were low. Genetic correlations estimated between the trait and its variability reached values of -0.929 (LS), -0.815 (LW) and 0.969 (IW). The results presented here for the first time in mice may suggest a genetic basis for variability of the evaluated traits, thus opening the possibility to be implemented in selection schemes.This research was partially financed by a grant from the University Complutense of Madrid, n◦ UCM PR1/03-11650. We thank Dr. Félix Goyache for comments on the manuscript.Gutiérrez, J.; Nieto, B.; Piqueras, P.; Ibañez Escriche, N.; Salgado, C. (2006). Genetic parameters for canalisation analysis of litter size and litter weight traits at birth in mice. Genetics Selection Evolution. 38(5):445-462. https://doi.org/10.1051/gse:2006014S44546238

Accuracy of genomic breeding values in multi-breed dairy cattle populations

<p>Abstract</p> <p>Background</p> <p>Two key findings from genomic selection experiments are 1) the reference population used must be very large to subsequently predict accurate genomic estimated breeding values (GEBV), and 2) prediction equations derived in one breed do not predict accurate GEBV when applied to other breeds. Both findings are a problem for breeds where the number of individuals in the reference population is limited. A multi-breed reference population is a potential solution, and here we investigate the accuracies of GEBV in Holstein dairy cattle and Jersey dairy cattle when the reference population is single breed or multi-breed. The accuracies were obtained both as a function of elements of the inverse coefficient matrix and from the realised accuracies of GEBV.</p> <p>Methods</p> <p>Best linear unbiased prediction with a multi-breed genomic relationship matrix (GBLUP) and two Bayesian methods (BAYESA and BAYES_SSVS) which estimate individual SNP effects were used to predict GEBV for 400 and 77 young Holstein and Jersey bulls respectively, from a reference population of 781 and 287 Holstein and Jersey bulls, respectively. Genotypes of 39,048 SNP markers were used. Phenotypes in the reference population were de-regressed breeding values for production traits. For the GBLUP method, expected accuracies calculated from the diagonal of the inverse of coefficient matrix were compared to realised accuracies.</p> <p>Results</p> <p>When GBLUP was used, expected accuracies from a function of elements of the inverse coefficient matrix agreed reasonably well with realised accuracies calculated from the correlation between GEBV and EBV in single breed populations, but not in multi-breed populations. When the Bayesian methods were used, realised accuracies of GEBV were up to 13% higher when the multi-breed reference population was used than when a pure breed reference was used. However no consistent increase in accuracy across traits was obtained.</p> <p>Conclusion</p> <p>Predicting genomic breeding values using a genomic relationship matrix is an attractive approach to implement genomic selection as expected accuracies of GEBV can be readily derived. However in multi-breed populations, Bayesian approaches give higher accuracies for some traits. Finally, multi-breed reference populations will be a valuable resource to fine map QTL.</p

Tools for Evaluating the Content, Efficacy, and Usability of Mobile Health Apps According to the Consensus-Based Standards for the Selection of Health Measurement Instruments: Systematic Review.

BACKGROUND: There are several mobile health (mHealth) apps in mobile app stores. These apps enter the business-to-customer market with limited controls. Both, apps that users use autonomously and those designed to be recommended by practitioners require an end-user validation to minimize the risk of using apps that are ineffective or harmful. Prior studies have reviewed the most relevant aspects in a tool designed for assessing mHealth app quality, and different options have been developed for this purpose. However, the psychometric properties of the mHealth quality measurement tools, that is, the validity and reliability of the tools for their purpose, also need to be studied. The Consensus-based Standards for the Selection of Health Measurement Instruments (COSMIN) initiative has developed tools for selecting the most suitable measurement instrument for health outcomes, and one of the main fields of study was their psychometric properties. OBJECTIVE: This study aims to address and psychometrically analyze, following the COSMIN guideline, the quality of the tools that are used to measure the quality of mHealth apps. METHODS: From February 1, 2019, to December 31, 2019, 2 reviewers searched PubMed and Embase databases, identifying mHealth app quality measurement tools and all the validation studies associated with each of them. For inclusion, the studies had to be meant to validate a tool designed to assess mHealth apps. Studies that used these tools for the assessment of mHealth apps but did not include any psychometric validation were excluded. The measurement tools were analyzed according to the 10 psychometric properties described in the COSMIN guideline. The dimensions and items analyzed in each tool were also analyzed. RESULTS: The initial search showed 3372 articles. Only 10 finally met the inclusion criteria and were chosen for analysis in this review, analyzing 8 measurement tools. Of these tools, 4 validated ≥5 psychometric properties defined in the COSMIN guideline. Although some of the tools only measure the usability dimension, other tools provide information such as engagement, esthetics, or functionality. Furthermore, 2 measurement tools, Mobile App Rating Scale and mHealth Apps Usability Questionnaire, have a user version, as well as a professional version. CONCLUSIONS: The Health Information Technology Usability Evaluation Scale and the Measurement Scales for Perceived Usefulness and Perceived Ease of Use were the most validated tools, but they were very focused on usability. The Mobile App Rating Scale showed a moderate number of validated psychometric properties, measures a significant number of quality dimensions, and has been validated in a large number of mHealth apps, and its use is widespread. It is suggested that the continuation of the validation of this tool in other psychometric properties could provide an appropriate option for evaluating the quality of mHealth apps

Assessment of the quality of mobile applications (Apps) for management of low back pain using the mobile app rating scale (mars)

Digital health interventions may improve different behaviours. However, the rapid proliferation of technological solutions often does not allow for a correct assessment of the quality of the tools. This study aims to review and assess the quality of the available mobile applications (apps) related to interventions for low back pain. Two reviewers search the official stores of Android (Play Store) and iOS (App Store) for localisation in Spain and the United Kingdom, in September 2019, searching for apps related to interventions for low back pain. Seventeen apps finally are included. The quality of the apps is measured using the Mobile App Rating Scale (MARS). The scores of each section and the final score of the apps are retrieved and the mean and standard deviation obtained. The average quality ranges between 2.83 and 4.57 (mean 3.82) on a scale from 1 (inadequate) to 5 (excellent). The best scores are found in functionality (4.7), followed by aesthetic content (mean 4.1). Information (2.93) and engagement (3.58) are the worst rated items. Apps generally have good overall quality, especially in terms of functionality and aesthetics. Engagement and information should be improved in most of the apps. Moreover, scientific evidence is necessary to support the use of applied health tools

The Validity of the Energy Expenditure Criteria Based on Open Source Code through two Inertial Sensors

Through this study, we developed and validated a system for energy expenditure calcula-tion, which only requires low-cost inertial sensors and open source R software. Five healthy subjects ran at ten different speeds while their kinematic variables were recorded on the thigh and wrist. Two ActiGraph wireless inertial sensors and a low-cost Bluetooth-based inertial sensor (Lis2DH12), assembled by SensorID, were used. Ten energy expenditure equations were automatically calculated in a developed open source R software (our own creation). A correlation analysis was used to compare the results of the energy expenditure equations. A high interclass correlation coefficient of estimated energy expenditure on the thigh and wrist was observed with an Actigraph and Sensor ID accelerometer; the corrected Freedson equation showed the highest values, and the Santos-Lozano vector magnitude equation and Sasaki equation demonstrated the lowest one. Energy expenditure was compared between the wrist and thigh and showed low correlation values. Despite the positive results obtained, it was necessary to design specific equations for the estimation of energy expenditure measured with inertial sensors on the thigh. The use of the same formula equation in two different placements did not report a positive interclass correlation coefficient

Effectiveness of a gamified digital intervention based on lifestyle modification (iGAME) in secondary prevention: a protocol for a randomised controlled trial

Introduction Combating physical inactivity and reducing sitting time are one of the principal challenges proposed by public health systems. Gamification has been seen as an innovative, functional and motivating strategy to encourage patients to increase their physical activity (PA) and reduce sedentary lifestyles through behaviour change techniques (BCT). However, the effectiveness of these interventions is not usually studied before their use. The main objective of this study will be to analyse the effectiveness of a gamified mobile application (iGAME) developed in the context of promoting PA and reducing sitting time with the BCT approach, as an intervention of secondary prevention in sedentary patients.Methods and analysis A randomised clinical trial will be conducted among sedentary patients with one of these conditions: non-specific low back pain, cancer survivors and mild depression. The experimental group will receive a 12-week intervention based on a gamified mobile health application using BCT to promote PA and reduce sedentarism. Participants in the control group will be educated about the benefits of PA. The International Physical Activity Questionnaire will be considered the primary outcome. International Sedentary Assessment Tool, EuroQoL-5D, MEDRISK Instruments and consumption of Health System resources will be evaluated as secondary outcomes. Specific questionnaires will be administered depending on the clinical population. Outcomes will be assessed at baseline, at 6 weeks, at the end of the intervention (12 weeks), at 26 weeks and at 52 weeks.Ethics and dissemination The study has been approved by the Portal de Ética de la Investigación Biomédica de Andalucía Ethics Committee (RCT-iGAME 24092020). All participants will be informed about the purpose and content of the study and written informed consent will be completed. The results of this study will be published in a peer-reviewed journal and disseminated electronically and in print.Trial registration number NCT0401911

Genome-Wide Association Study Singles Out SCD and LEPR as the Two Main Loci Influencing Intramuscular Fat Content and Fatty Acid Composition in Duroc Pigs

[EN] Intramuscular fat (IMF) content and fatty acid composition affect the organoleptic quality and nutritional value of pork. A genome-wide association study was performed on 138 Duroc pigs genotyped with a 60k SNP chip to detect biologically relevant genomic variants influencing fat content and composition. Despite the limited sample size, the genome-wide association study was powerful enough to detect the association between fatty acid composition and a known haplotypic variant in SCD (SSC14) and to reveal an association of IMF and fatty acid composition in the LEPR region (SSC6). The association of LEPR was later validated with an independent set of 853 pigs using a candidate quantitative trait nucleotide. The SCD gene is responsible for the biosynthesis of oleic acid (C18:1) from stearic acid. This locus affected the stearic to oleic desaturation index (C18:1/C18:0), C18: 1, and saturated (SFA) and monounsaturated (MUFA) fatty acids content. These effects were consistently detected in gluteus medius, longissimus dorsi, and subcutaneous fat. The association of LEPR with fatty acid composition was detected only in muscle and was, at least in part, a consequence of its effect on IMF content, with increased IMF resulting in more SFA, less polyunsaturated fatty acids (PUFA), and greater SFA/PUFA ratio. Marker substitution effects estimated with a subset of 65 animals were used to predict the genomic estimated breeding values of 70 animals born 7 years later. Although predictions with the whole SNP chip information were in relatively high correlation with observed SFA, MUFA, and C18: 1/C18: 0 (0.48-0.60), IMF content and composition were in general better predicted by using only SNPs at the SCD and LEPR loci, in which case the correlation between predicted and observed values was in the range of 0.36 to 0.54 for all traits. Results indicate that markers in the SCD and LEPR genes can be useful to select for optimum fatty acid profiles of pork.This research was funded by the Spanish Ministry of Economy and Competitiveness (MINECO; grants AGL2012-33529 and AGL2015-65846-R).Ros-Freixedes, R.; Gol, S.; Pena, R.; Tor, M.; Ibañez Escriche, N.; Dekkers, J.; Estany, J. (2016). Genome-Wide Association Study Singles Out SCD and LEPR as the Two Main Loci Influencing Intramuscular Fat Content and Fatty Acid Composition in Duroc Pigs. PLoS ONE. 11(3). https://doi.org/10.1371/journal.pone.0152496S113Cameron, N. ., Enser, M., Nute, G. ., Whittington, F. ., Penman, J. ., Fisken, A. ., … Wood, J. . (2000). Genotype with nutrition interaction on fatty acid composition of intramuscular fat and the relationship with flavour of pig meat. Meat Science, 55(2), 187-195. doi:10.1016/s0309-1740(99)00142-4Christophersen, O. A., & Haug, A. (2011). 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Journal of Heredity, 97(5), 535-537. doi:10.1093/jhered/esl026Sanchez, M.-P., Iannuccelli, N., Basso, B., Bidanel, J.-P., Billon, Y., Gandemer, G., … Le Roy, P. (2007). Identification of QTL with effects on intramuscular fat content and fatty acid composition in a Duroc × Large White cross. BMC Genetics, 8(1), 55. doi:10.1186/1471-2156-8-55Guo, T., Ren, J., Yang, K., Ma, J., Zhang, Z., & Huang, L. (2009). Quantitative trait loci for fatty acid composition in longissimus dorsi and abdominal fat: results from a White Duroc × Erhualian intercross F2population. Animal Genetics, 40(2), 185-191. doi:10.1111/j.1365-2052.2008.01819.xC.M. Dekkers, J. (2012). Application of Genomics Tools to Animal Breeding. Current Genomics, 13(3), 207-212. doi:10.2174/138920212800543057Uemoto, Y., Nakano, H., Kikuchi, T., Sato, S., Ishida, M., Shibata, T., … Suzuki, K. (2011). Fine mapping of porcine SSC14 QTL and SCD gene effects on fatty acid composition and melting point of fat in a Duroc purebred population. Animal Genetics, 43(2), 225-228. doi:10.1111/j.1365-2052.2011.02236.xUemoto, Y., Soma, Y., Sato, S., Ishida, M., Shibata, T., Kadowaki, H., … Suzuki, K. (2011). Genome-wide mapping for fatty acid composition and melting point of fat in a purebred Duroc pig population. Animal Genetics, 43(1), 27-34. doi:10.1111/j.1365-2052.2011.02218.xEstany, J., Ros-Freixedes, R., Tor, M., & Pena, R. N. (2014). A Functional Variant in the Stearoyl-CoA Desaturase Gene Promoter Enhances Fatty Acid Desaturation in Pork. PLoS ONE, 9(1), e86177. doi:10.1371/journal.pone.0086177Ramayo-Caldas, Y., Mercadé, A., Castelló, A., Yang, B., Rodríguez, C., Alves, E., … Folch, J. M. (2012). Genome-wide association study for intramuscular fatty acid composition in an Iberian × Landrace cross1. 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Identification of signatures of selection for intramuscular fat and backfat thickness in two Duroc populations1. Journal of Animal Science, 93(7), 3292-3302. doi:10.2527/jas.2015-8879Bosch, L., Tor, M., Reixach, J., & Estany, J. (2009). Estimating intramuscular fat content and fatty acid composition in live and post-mortem samples in pigs. Meat Science, 82(4), 432-437. doi:10.1016/j.meatsci.2009.02.013AOAC. 1997. Supplement to AOAC Official Method 996.06: Fat (total, saturated, and monounsaturated) in foods hydrolytic extraction gas chromatographic method. Page 18 in Official Methods of Analysis (16th ed). Association of Official Analytical Chemists, Arlington, VA.ÓVILO, C., FERNÁNDEZ, A., NOGUERA, J. L., BARRAGÁN, C., LETÓN, R., RODRÍGUEZ, C., … TORO, M. (2005). Fine mapping of porcine chromosome 6 QTL and LEPR effects on body composition in multiple generations of an Iberian by Landrace intercross. 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Efficacy of a brief multifactorial adherence-based intervention on reducing the blood pressure of patients with poor adherence: protocol for a randomized clinical trial

<p>Abstract</p> <p>Background</p> <p>Lowering of blood pressure by antihypertensive drugs reduces the risks of cardiovascular events, stroke, and total mortality. However, poor adherence to antihypertensive medications reduces their effectiveness and increases the risk of adverse events. In terms of relative risk reduction, an improvement in medication adherence could be as effective as the development of a new drug.</p> <p>Methods/Design</p> <p>The proposed randomized controlled trial will include patients with a low adherence to medication and uncontrolled blood pressure. The intervention group will receive a multifactorial intervention during the first, third, and ninth months, to improve adherence. This intervention will include motivational interviews, pill reminders, family support, blood pressure self-recording, and simplification of the dosing regimen.</p> <p>Measurement</p> <p>The primary outcome is systolic blood pressure. The secondary outcomes are diastolic blood pressure, proportion of patients with adequately controlled blood pressure, and total cost.</p> <p>Discussion</p> <p>The trial will evaluate the impact of a multifactorial adherence intervention in routine clinical practice. Ethical approval was given by the Ethical Committee on Human Research of Balearic islands, Spain (approval number IB 969/08 PI).</p> <p>Trial registration</p> <p>Current controlled trials ISRCTN21229328</p