16 research outputs found

    Effect of Lupinus albus as protein supplement on yield, constituents, clotting properties and fatty acid composition in ewes' milk

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    The effect of feeding lupin seeds (Lupinus albus L.) as an alternative protein source in ewe diets was investigated. Two groups of 18 Sarda ewes were fed two different isonitrogenous diets: with lupin (L) seed, given after 12 h soaking, or soybean meal (SBM) as the main protein source. DMI, variations of body weight and milk production were unaffected by the treatment. Although not statistically significant, in the group fed L diet the production of milk fat and protein was higher. Clotting properties of milk were similar for the two treatments, probably due to the small differences in the milk protein contents. The fatty acid profile of milk was affected by treatment with a larger content of short (14.19 wt% versus 12.26 wt%)- and medium (49.37 wt% versus 47.76 wt%)-chain fatty acids in milk from ewes fed the L diet. CLA content was unaffected by treatment. Triglyceride content of fat from the two diets reflects the milk fatty acid composition. Indeed, milk from L diet showed a higher level of medium-chain triglycerides, which are of particular interest to consumers with concerns over health and heart disease. The inclusion of lupin seed in the diet of lactation ewes can be a means of achieving a more desirable triglyceride profile in milk fat. Milk with enhanced nutritive quality may promote wider market penetration of sheep dairy products

    Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease

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    The 3-dimensional spatial and 2-dimensional frontal QRS-T angles are measures derived from the vectorcardiogram. They are independent risk predictors for arrhythmia, but the underlying biology is unknown. Using multi-ancestry genome-wide association studies we identify 61 (58 previously unreported) loci for the spatial QRS-T angle (N = 118,780) and 11 for the frontal QRS-T angle (N = 159,715). Seven out of the 61 spatial QRS-T angle loci have not been reported for other electrocardiographic measures. Enrichments are observed in pathways related to cardiac and vascular development, muscle contraction, and hypertrophy. Pairwise genome-wide association studies with classical ECG traits identify shared genetic influences with PR interval and QRS duration. Phenome-wide scanning indicate associations with atrial fibrillation, atrioventricular block and arterial embolism and genetically determined QRS-T angle measures are associated with fascicular and bundle branch block (and also atrioventricular block for the frontal QRS-T angle). We identify potential biology involved in the QRS-T angle and their genetic relationships with cardiovascular traits and diseases, may inform future research and risk prediction.</p

    Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.

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    BACKGROUND: Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the variants identified fall predominantly in non-coding regions and their underlying mechanisms remain unclear. RESULTS: Here, we identify putative functional coding variation associated with changes in the QRS interval duration by combining Illumina HumanExome BeadChip genotype data from 77,898 participants of European ancestry and 7695 of African descent in our discovery cohort, followed by replication in 111,874 individuals of European ancestry from the UK Biobank and deCODE cohorts. We identify ten novel loci, seven within coding regions, including ADAMTS6, significantly associated with QRS duration in gene-based analyses. ADAMTS6 encodes a secreted metalloprotease of currently unknown function. In vitro validation analysis shows that the QRS-associated variants lead to impaired ADAMTS6 secretion and loss-of function analysis in mice demonstrates a previously unappreciated role for ADAMTS6 in connexin 43 gap junction expression, which is essential for myocardial conduction. CONCLUSIONS: Our approach identifies novel coding and non-coding variants underlying ventricular depolarization and provides a possible mechanism for the ADAMTS6-associated conduction changes.BH

    Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

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    Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

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    The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are associated with potentially fatal ventricular arrhythmia. Using genome-wide multi-ancestry analyses (&gt;250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization

    Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

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    The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N=293,051) genome-wide association meta-analysis for the PR interval, discovering 202 loci of which 141 have not previously been reported. Variants at identified loci increase the percentage of heritability explained, from 33.5% to 62.6%. We observe enrichment for cardiac muscle developmental/contractile and cytoskeletal genes, highlighting key regulation processes for atrioventricular conduction. Additionally, 8 loci not previously reported harbor genes underlying inherited arrhythmic syndromes and/or cardiomyopathies suggesting a role for these genes in cardiovascular pathology in the general population. We show that polygenic predisposition to PR interval duration is an endophenotype for cardiovascular disease, including distal conduction disease, AF, and atrioventricular pre-excitation. These findings advance our understanding of the polygenic basis of cardiac conduction, and the genetic relationship between PR interval duration and cardiovascular disease. On the electrocardiogram, the PR interval reflects conduction from the atria to ventricles and also serves as risk indicator of cardiovascular morbidity and mortality. Here, the authors perform genome-wide meta-analyses for PR interval in multiple ancestries and identify 141 previously unreported genetic loci.Peer reviewe

    Studio quali-quantitativo della componente lipidica del grasso lattico di bufala: effetto della stagionalità, dell'alimentazione e messa a punto di un metodo di valutazione della genuinità

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    [ITALIANO] Il settore lattiero-caseario rappresenta uno dei comparti principali del sistema agro-alimentare nazionale. Attualmente la consistenza dell’allevamento bufalino in Italia è di poco superiore ai 160000 capi ma negli ultimi anni si è registrata una crescita costante in controtendenza rispetto al continuo calo del patrimonio bovino nazionale. E’ soprattutto la produzione di latte per la trasformazione in mozzarella di bufala e sottoprodotti della lavorazione la principale opportunità di sviluppo di questo tipo di allevamento. Tale trend del mercato ha inevitabilmente accentuato la problematica delle frodi e delle metodiche analitiche per rilevarle, suscitando attenzione da parte dei produttori, consumatori ed organi di controllo. La sperimentazione ha avuto come obiettivo la caratterizzazione della componente lipidica del latte di bufala alla luce delle fonti di variabilità stagionale ed alimentare. Dai dati ottenuti utilizzando gascromatografia ad alta risoluzione (HRGC) è stato possibile ricavare dei descrittori lipidici di genuinità. / [ENGLISH] Milk sector is one of the most important fields of national agroindustrial system. Nowadays Italian buffalo breeding is above of 160000 head but, in the last year it is possible to underline a constant growth opposite to continuous decrease of national cows breeding. The main development opportunity of this breeding is the production of milk for buffalo cheese and other cheese by products. This market trend emphasize milk adulteration problems and analytical methods for evaluation, producing great attention to producers, consumers and control authority. The aim of this work were the milk fat characterization to light of seasonal and feed variability factors. The results obtain to high resolution gas chromatography analysis (HRGC), show that it is possible to outline a lipidic descriptor in order to determine milk fat genuineness

    The Lipidic and Volatile Components of Coffee Pods and Capsules Packaged in an Alternative Multilayer Film

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    Coffee pods and capsules require packaging that guarantees the optimal coffee preservation. The chemical composition of coffee can undergo quality decay phenomena during storage, especially in terms of lipidic and volatile components. Amongst coffee packaging, aluminum multilayer materials are particularly widely diffused. However, aluminum is a negative component because it is not recoverable in a mixed plastic structure and its specific weight gives significant weight to packaging. In this study, a multilayer film with a reduced content of aluminum was used to package coffe pods and capsules and compared to a standard film with an aluminum layer. Their influence on the peroxides and volatile organic compounds of two coffee blends, 100% Coffea arabica L., 50% Coffea arabica L., and 50% Coffea canephora var. robusta L., were studied during their 180-day shelf life. The predominant volatile organic compounds detected belonged to the class of furans and pyrazines. Both packaging materials used for both coffee blends in the pods and capsules showed no significant differences during storage. Thus, the alternative packaging with less aluminum had the same performance as the standard with the advantage of being more sustainable, reducing the packaging weight, with benefits for transportation, and preserving the coffee aroma during the shelf life

    Oligo-metastatic neoPlasms from the gastro-intestinal tract: iDentIfiCaTIon of cliNical and molecular drivers: the PREDICTION study

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    Background Metastatic disease in tumors originating from the gastrointestinal tract can exhibit varying degrees of tumor burden at presentation. Some patients follow a less aggressive disease course, characterized by a limited number of metastatic sites, referred to as "oligo-metastatic disease" (OMD). The precise biological characteristics that define the oligometastatic behavior remain uncertain. In this study, we present a protocol designed to prospectively identify OMD, with the aim of proposing novel therapeutic approaches and monitoring strategies.Methods The PREDICTION study is a monocentric, prospective, observational investigation. Enrolled patients will receive standard treatment, while translational activities will involve analysis of the tumor microenvironment and genomic profiling using immunohistochemistry and next-generation sequencing, respectively. The first primary objective (descriptive) is to determine the prevalence of biological characteristics in OMD derived from gastrointestinal tract neoplasms, including high genetic concordance between primary tumors and metastases, a significant infiltration of T lymphocytes, and the absence of clonal evolution favoring specific driver genes (KRAS and PIK3CA). The second co-primary objective (analytic) is to identify a prognostic score for true OMD, with a primary focus on metastatic colorectal cancer. The score will comprise genetic concordance (&gt; 80%), high T-lymphocyte infiltration, and the absence of clonal evolution favoring driver genes. It is hypothesized that patients with true OMD (score 3+) will have a lower rate of progression/recurrence within one year (20%) compared to those with false OMD (80%). The endpoint of the co-primary objective is the rate of recurrence/progression at one year. Considering a reasonable probability (60%) of the three factors occurring simultaneously in true OMD (score 3+), using a significance level of alpha = 0.05 and a test power of 90%, the study requires a minimum enrollment of 32 patients.Discussion Few studies have explored the precise genetic and biological features of OMD thus far. In clinical settings, the diagnosis of OMD is typically made retrospectively, as some patients who undergo intensive treatment for oligometastases develop polymetastatic diseases within a year, while others do not experience disease progression (true OMD). In the coming years, the identification of true OMD will allow us to employ more personalized and comprehensive strategies in cancer treatment
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