Óleo essencial de alecrim no controle de doenças e na indução de resistência em videira

The objective of this work was to determine the chemical qualities of rosemary essential oil and its effect on productivity, on the control of leaf spot and mildew, and on the induction of resistance in 'Isabel' grapevine. The experiment was carried out in a commercial vineyard, in two consecutive cycles. The treatments consisted of the essential oil doses: 0, 500, 1,000, 2,000, and 4,000 µL L‑1, besides the Tween 80%, bordeaux mixture, acibenzolar‑S‑methyl, and mancozeb treatments. Severity of leaf blight and mildew, the activity of chitinase and catalase enzymes, and mass and number of clusters and chemical characteristics of grapes were evaluated. There was a quadratic effect as affected by the doses of essential rosemary oil, for severity of leaf spot and mildew in grapevine, in both cycles, with results similar to those of bordeaux mixture, acibenzolar‑S‑methyl, and mancozeb. There was also an increase in the number and mass of clusters, as well as in productivity. The essential oil did not affect the chemical characteristics of grapes. An increase in the activity of the chitinase enzyme and a decrease in the catalase activity were observed in leaves. Essential oil at the doses of 500, 1,000, and 2,000 µL L‑1 is an alternative for the control of diseases in 'Isabel' grapevine.O objetivo deste trabalho foi determinar as características químicas do óleo essencial de alecrim e o seu efeito na produtividade, no controle da mancha da folha e do míldio, e na indução de resistência em videira 'Isabel'. O experimento foi realizado em vinhedo comercial, em dois ciclos consecutivos. Os tratamentos consistiram das doses do óleo essencial: 0, 500, 1.000, 2.000 e 4.000 µL L‑1, além dos tratamentos Tween 80%, calda bordalesa, acibenzolar‑S‑metil e mancozebe. Foram avaliados a severidade da mancha da folha e do míldio, a atividade das enzimas quitinase e catalase, a massa e o número de cachos e as características químicas das uvas. Houve efeito quadrático das doses do óleo essencial de alecrim, para severidade da mancha da folha e do míldio da videira, nos dois ciclos, com resultados semelhantes aos dos tratamentos com calda bordalesa, acibenzolar‑S‑metil e mancozeb. Também houve aumento no número e na massa dos cachos, bem como na produtividade. O óleo essencial não interferiu nas características químicas das uvas. Observaram-se aumento na atividade da enzima quitinase e redução na atividade da catalase nas folhas. O óleo essencial nas doses de 500, 1.000 e 2.000 μL L‑1 é uma alternativa para o controle de doenças da videira 'Isabel'

Variable Anisotropic Brain Electrical Conductivities in Epileptogenic Foci

Source localization models assume brain electrical conductivities are isotropic at about 0.33 S/m. These assumptions have not been confirmed ex vivo in humans. This study determined bidirectional electrical conductivities from pediatric epilepsy surgery patients. Electrical conductivities perpendicular and parallel to the pial surface of neocortex and subcortical white matter (n = 15) were measured using the 4-electrode technique and compared with clinical variables. Mean (±SD) electrical conductivities were 0.10 ± 0.01 S/m, and varied by 243% from patient to patient. Perpendicular and parallel conductivities differed by 45%, and the larger values were perpendicular to the pial surface in 47% and parallel in 40% of patients. A perpendicular principal axis was associated with normal, while isotropy and parallel principal axes were linked with epileptogenic lesions by MRI. Electrical conductivities were decreased in patients with cortical dysplasia compared with non-dysplasia etiologies. The electrical conductivity values of freshly excised human brain tissues were approximately 30% of assumed values, varied by over 200% from patient to patient, and had erratic anisotropic and isotropic shapes if the MRI showed a lesion. Understanding brain electrical conductivity and ways to non-invasively measure them are probably necessary to enhance the ability to localize EEG sources from epilepsy surgery patients

Mutations in KEOPS-Complex Genes Cause Nephrotic Syndrome with Primary Microcephaly

Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases

Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout the literature, variable numbers of families have been reported, where no mutation can be found and therefore termed ADTKD-not otherwise specified. Here, we aim to clarify the genetic cause of their diseases in our ADTKD registry. Sequencing for all known ADTKD genes was performed, followed by SNaPshot minisequencing for the dupC (an additional cytosine within a stretch of seven cytosines) mutation of MUC1. A virtual panel containing 560 genes reported in the context of kidney disease (nephrome) and exome sequencing were then analyzed sequentially. Variants were validated and tested for segregation. In 29 of the 45 registry families, mutations in known ADTKD genes were found, mostly in MUC1. Sixteen families could then be termed ADTKD-not otherwise specified, of which nine showed diagnostic variants in the nephrome (four in COL4A5, two in INF2 and one each in COL4A4, PAX2, SALL1 and PKD2). In the other seven families, exome sequencing analysis yielded potential disease associated variants in novel candidate genes for ADTKD; evaluated by database analyses and genome-wide association studies. For the great majority of our ADTKD registry we were able to reach a molecular genetic diagnosis. However, a small number of families are indeed affected by diseases classically described as a glomerular entity. Thus, incomplete clinical phenotyping and atypical clinical presentation may have led to the classification of ADTKD. The identified novel candidate genes by exome sequencing will require further functional validation

Extended stress gradient elastodynamics: Wave dispersion and micro-macro identification of parameter

International audienceIn its original formulation by Forest & Sab (Math. Mech. Solids, 2017), stress gradient elastodynamics incorporate two inner-lengths to account for size effects in continuum theory. Here, an extended one-dimensional stress gradient model is developed by means of Lagrangian formalism, incorporating an additional inner-length and a fourth-order space derivative in the wave equation. Dispersive properties are characterised and hyperbolicity and stability are proven. Group velocity remains bounded in both original and extended models, proving causality is satisfied for both contrary to a usually-accepted postulate. By means of two-scale asymptotic homogeniza-tion, the high-order wave equation satisfied by the stress gradient model is shown to stand for an effective description of heterogeneous materials in the low-frequency range. An upscaling method is developed to identify the stress gradient material parameters and bulk forces on the parameters of elastic micro-structures. Application of the micro-macro procedure to periodic multi-laminates demonstrates the accuracy of the stress gradient continuum to account for the dispersive features of wave propagation. Frequency and time-domain simulations illustrate these properties