(Ruminal methane emission related aspects in cattle production systems

Methane is well known as a greenhouse effect intensifier. Ruminants, during the ruminal digestive fermentation process, transform carbohydrates available in the diet to volatile fatty acids, with production of carbon dioxide and methane. Therefore, ruminants are known as important methane source to the atmosphere. Methane production also means animal losses of ingested energy. Ruminal fermentation process is driven by dry matter intake, and feed quality. Therefore, consume of low quality diets will produce more methane per product unit (milk or beef) compared to high producing animals ingesting great amounts of high quality diets. The sulphur hex fluoride gas tracer technique did allow good methane emission measurements by grazing or free managed animals. Results show that the reduction of methane emission by cattle is related to better quality diet, to improvement of forage quality of pastures, to grain inclusion in diet, to animal breeds with greater production potential, and other practices that improve production efficiency, and result in shorter production cycles.O gás metano possui reconhecidamente um importante papel como intensificador do efeito estufa. Pelo seu processo digestivo de fermentação entérica, os ruminantes convertem os carboidratos presentes na dieta em ácidos graxos voláteis, resultando na produção de dióxido de carbono e metano. Dessa forma, os ruminantes são reconhecidos como importantes emissores de metano ruminal para a atmosfera, sendo que a produção deste gás representa ainda perdas energéticas para os animais em relação à energia consumida. Animais consumindo dietas de baixa qualidade podem produzir mais metano por unidade de produto (carne ou leite) em relação aos animais de alta produção consumindo dietas de melhor qualidade em maiores níveis de ingestão. Resultados têm mostrado que a redução da emissão de metano pela pecuária está ligada à melhoria da dieta, à melhoria dos pastos, à suplementação alimentar, à seleção por maior potencial genético de produção e a outras medidas que reflitam na melhor eficiência produtiva, resultando em menores ciclos de produção

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as pathogenic or likely pathogenic. Of the 48 mutated genes, 32 were dominant, 8 recessive and 8 X-linked. Of the patients for whom family studies could be performed and in whom pathogenic variants were identified in dominant or X-linked genes, 82% carried de novo mutations. The involvement of small copy number variations (CNVs) is 9%. The use of progressively updated custom panels with high mean vertical coverage enabled establishment of a definitive diagnosis in a large proportion of cases (42%) and detection of CNVs (even duplications) with high fidelity. In 10.5% of patients we detected associations that are pending confirmation via functional and/or familial studies. Our findings had important consequences for the clinical management of the probands, since a large proportion of the cohort had been clinically misdiagnosed, and their families were subsequently able to avail of genetic counseling. In some cases, a more appropriate treatment was selected for the patient in question, or an inappropriate treatment discontinued. Our findings suggest the existence of modifier genes that may explain the incomplete penetrance of some epilepsy-related genes. We discuss possible reasons for non-diagnosis and future research directions. Further studies will be required to uncover the roles of structural variants, epimutations, and oligogenic inheritance in epilepsy, thereby providing a more complete molecular picture of this disease. In summary, given the broad phenotypic spectrum of most epilepsy-related genes, efficient genomic tools like the targeted exome sequencing panel described here are essential for early diagnosis and treatment, and should be implemented as first-tier diagnostic tools for children with epilepsy without a clear etiologic basis

Evidence for a mixed mass composition at the `ankle' in the cosmic-ray spectrum

We report a first measurement for ultra-high energy cosmic rays of the correlation between the depth of shower maximum and the signal in the water Cherenkov stations of air-showers registered simultaneously by the fluorescence and the surface detectors of the Pierre Auger Observatory. Such a correlation measurement is a unique feature of a hybrid air-shower observatory with sensitivity to both the electromagnetic and muonic components. It allows an accurate determination of the spread of primary masses in the cosmic-ray flux. Up till now, constraints on the spread of primary masses have been dominated by systematic uncertainties. The present correlation measurement is not affected by systematics in the measurement of the depth of shower maximum or the signal in the water Cherenkov stations. The analysis relies on general characteristics of air showers and is thus robust also with respect to uncertainties in hadronic event generators. The observed correlation in the energy range around the `ankle' at $\lg(E/{\rm eV})=18.5-19.0$ differs significantly from expectations for pure primary cosmic-ray compositions. A light composition made up of proton and helium only is equally inconsistent with observations. The data are explained well by a mixed composition including nuclei with mass $A > 4$. Scenarios such as the proton dip model, with almost pure compositions, are thus disfavoured as the sole explanation of the ultrahigh-energy cosmic-ray flux at Earth.Comment: Published version. Added journal reference and DOI. Added Report Numbe