El personaje en la narrativa de Aldo Nove.

Sin resume

De novo heterozygous mutations in SMC3 cause a range of cornelia de lange syndrome-overlapping phenotypes

© 2015 WILEY PERIODICALS, INC. Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for ~1%-2% of CdLS-like phenotypes. Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder caused by mutation in five genes encoding subunits or regulators of the cohesin complex. To date, only the clinical features of the unique mildly affected CdLS male with SMC3 mutation have been published. Here, we report a series of 16 probands with 15 different intragenic mutations in SMC3 that provide a significant advance in our understanding of the clinical and molecular basis of Cornelia de Lange syndrome and overlapping phenotypes.CdLS Foundation of UK and Ireland for their long-term help and support. M.A.D. and I.D.K. are indebted to the USA Cornelia de Lange Syndrome FoundationPeer Reviewe

O demônio de Maxwell e a política de cotas raciais no ensino superior público

Este artigo tem como objetivo analisar as relações entre a crítica do mérito em relação às cotas como forma de acesso à universidade pública e a defesa do mérito acadêmico no processo seletivo do vestibular tradicional, demonstrando que essa crítica não pode ser sustentada com base n

A mitologia como transmissão oral da educação infantil dos yanomami para sua integração social

How does the non-indigenous adult perceive the Yanomami child? What we propose in this article is to bring elements to the debate on the theme of indigenous children, from a comparative analysis of Yanomami children through photographs taken by religious at the Catrimani Mission in 1993, where they indicated their traditional environment of family education and their various interactions. This iconographic portrayal is recorded through a sample of photographs of Yanomami children, compared to Davi Kopenawa's autobiographical description, of his childhood memories, in the late 1950s and early 1960s, which allowed us to understand the environmental context in which these children are inserted, while observing their interactions with adults and the environment, with an emphasis on symbolic, cultural and emotional aspects. It is about triangular methodology, documentary, photographic and bibliographic. As results indicated, it was observed that the contrast of two narratives based on different supports: the visual, photographic narrative, and the written, literary narrative (autobiographical documentary), demonstrates the persistence, through the contact history of the Yanomami, of oral mythology in the cultural identity of these people at the end of the 20th century.¿Cómo percibe el adulto no indígena al niño yanomami? Lo que proponemos en este artículo es aportar elementos al debate sobre el tema del niño indígena, a partir de un análisis comparativo de las representaciones de los niños yanomami a través de fotografías tomadas por los religiosos en la Misión Catrimani en 1993, que indicaban su entorno tradicional de crianza familiar y sus diversas interacciones. Este registro iconográfico, a través de una muestra de fotografías de los niños yanomami, comparado con el registro autobiográfico de Davi Kopenawa, con sus recuerdos de infancia de finales de los años 50 y principios de los 60, nos permitió acercarnos al contexto ambiental en el que se insertan estos niños, al tiempo que observamos sus interacciones con los adultos y el entorno, con énfasis en los aspectos simbólicos, culturales y emocionales. Se trata de una metodología triangular, documental, fotográfica y bibliográfica. Como resultados señalados, se observó que el contraste de dos narrativas basadas en soportes diferentes: la narrativa visual, fotográfica, y la narrativa escrita, literaria (documental autobiográfica), demuestra la persistencia, a través de la historia de contacto de los Yanomami, de la mitología oral en la identidad cultural de este pueblo, a finales del siglo XX.Como o adulto não indígena percebe a criança yanomami? O que nos propomos neste artigo é trazer elementos ao debate sobre a temática da criança indígena, desde uma análise comparativa das representações das crianças yanomami por meio de fotografias realizadas pelos religiosos na Missão Catrimani em 1993, onde indicava seu ambiente tradicional de educação familiar e suas diversas interações. Esse registro iconográfico, por meio de uma amostra de fotografias das crianças yanomami, comparadas ao registro autobiográfico de Davi Kopenawa, com suas lembranças de infância, no final de 1950 e início de 1960, permitiu-nos uma abordagem do contexto ambiental em que essas crianças estão inseridas, ao mesmo tempo observar suas interações com os adultos e o ambiente, com ênfase nos aspectos simbólicos, culturais e emocionais. Trata-se de uma metodologia triangular, documental, fotográfica e bibliográfica. Como resultados apontados, observou-se que o contraste de duas narrativas baseadas em suportes diferentes: a narrativa visual, fotográfica, e a narrativa escrita, literária (documental autobiográfica), demonstra a persistência, através da história de contato dos Yanomami, da mitologia oral na identidade cultural dessas pessoas, no final do século XX

Ca2+ activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: Role in the heart malate-aspartate NADH shuttle

Ca2+ regulation of the Ca2+ binding mitochondrial carriers for aspartate/glutamate (AGCs) is provided by their N-terminal extensions, which face the intermembrane space. The two mammalian AGCs, aralar and citrin, are members of the malate-aspartate NADH shuttle. We report that their N-terminal extensions contain up to four pairs of EF-hand motifs plus a single vestigial EF-hand, and have no known homolog. Aralar and citrin contain one fully canonical EF-hand pair and aralar two additional half-pairs, in which a single EF-hand is predicted to bind Ca2+. Shuttle activity in brain or skeletal muscle mitochondria, which contain aralar as the major AGC, is activated by Ca2+ with S0.5 values of 280-350 nM; higher than those obtained in liver mitochondria (100-150 nM) that contain citrin as the major AGC. We have used aralar- and citrin-deficient mice to study the role of the two isoforms in heart, which expresses both AGCs. The S0.5 for Ca 2+ activation of the shuttle in heart mitochondria is about 300 nM, and it remains essentially unchanged in citrin-deficient mice, although it undergoes a drastic reduction to about 100 nM in aralar-deficient mice. Therefore, aralar and citrin, when expressed as single isoforms in heart, confer differences in Ca2+ activation of shuttle activity, probably associated with their structural differences. In addition, the results reveal that the two AGCs fully account for shuttle activity in mouse heart mitochondria and that no other glutamate transporter can replace the AGCs in this pathwayThis work was supported in part by grants from the Ministerio de Educacio´ n y Ciencia (BFU2005-C02-01, GEN2003-20235-C05-03/NAC), Instituto de Salud Carlos III del Ministerio de Sanidad (PI042457), European Union (LSHM-CT-2006-518153) (to J. S.), by Grant SAF2004-06843-C03 from the Ministerio de Educacio´ n y Ciencia (to P. G.-P.), by an institutional grant from the Fundacio´ n Ramo´ n Areces to the CBMSO, and by Grants-in-Aid for Scientific Research (16390100) from the Japan Society for the Promotion of Science (to K. K.). The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked “advertisement” in accordance with 18 U.S.C. Section 1734 solely to indicate this fac

Genomic Prediction for Inbred and Hybrid Polysomic Tetraploid Potato Offspring

Potato genetic improvement begins with crossing cultivars or breeding clones which often have complementary characteristics for producing heritable variation in segregating offspring, in which phenotypic selection is used thereafter across various vegetative generations (Ti ). The aim of this research was to determine whether tetrasomic genomic best linear unbiased predictors (GBLUPs) may facilitate selecting for tuber yield across early Ti within and across breeding sites in inbred (S1 ) and hybrid (F1 ) tetraploid potato offspring. This research used 858 breeding clones for a T1 trial at Umeå (Norrland, 63◦4903000 N 20◦1505000 E) in 2021, as well as 829 and 671 clones from the breeding population for T2 trials during 2022 at Umeå and Helgegården (Skåne, 56◦0104600 N 14◦0902400 E), respectively, along with their parents (S0 ) and check cultivars. The S1 and F1 were derived from selfing and crossing four S0 . The experimental layout was an augmented design of four-plant plots across testing sites, where breeding clones were non-replicated, and the parents and cultivars were placed in all blocks between the former. The genomic prediction abilities (r) for tuber weight per plant were 0.5944 and 0.6776 in T2 at Helgegården and Umeå, respectively, when T1 at Umeå was used as the training population. On average, r was larger in inbred than in hybrid offspring at both breeding sites. The r was also estimated using multi-environment data (involving at least one S1 and one F1 ) for T2 performance at both breeding sites. The r was strongly influenced by the genotype in both S1 and F1 offspring irrespective of the breeding site

Use of chromatin stability assay, mitochondrial stain JC-1, and fluorometric assessment of plasma membrane to evaluate frozen-thawed ram semen

P. 121-133Cryopreservation of semen imposes deleterious effects on spermatozoa, either killing a certain proportion of cells or causing subtle damages on sperm function in the surviving population, changes not easily revealed by conventional assays. We have tested three functional assessment techniques in frozen-thawed ram semen from six adult rams, cryopreserved following eight different protocols (four extenders, and glycerol being added at two temperatures). Semen samples were thawed and the following analyses were carried out: motility (CASA), membrane integrity (Hoescht 33258 and fluorometry), chromatin status (chromatin stability test and fluorescence-assisted cell sorting, FACS) and mitochondrial activity (JC-1 and FACS). Fluorometry outcome did not correlate with the other parameters and showed large variation, albeit discriminating among cryopreservation techniques (P<0.01). Mitochondrial activity correlated, but with low values, with total and progressive motility. However, good sperm motility and high velocity values were associated to high mitochondrial membrane potential. The chromatin stability assay was also successfully carried out, and had a good relationship with male factor (%COMP αt and SD αt parameters). In conclusion, fluorometric assessment of membrane integrity albeit rendering poor results, merits improvement, being a low-cost and handy technique, especially for work in the field. On the other hand, both assessments of chromatin stability and mitochondrial status (JC-1 staining), combined with FACS, are reliable techniques that can be used for the functional assessment of frozen-thawed ram semen.S

The validity and reliability of a 5-hz gps device for quantifying athletes’ sprints and movement demands specific to team sports

GPS systems are commonly used to analysis football performance during either trainings or matches. While many studies have investigated the validity and reliability of these devices, there is a lack of objective procedures regarding synchronization with gold standards such as real distance or timing gates. The objective of this study was to study the validity and reliability of a 5Hz GPS system (WIMU) during 10m and 30m sprints and during team sports specific movements and the reliability during very high speeds (> 30 km/h). The TD BIAS for Circuit A, 10m sprint and 30m sprint were -2.73 ± 1.64 m (p < 0.001), -0.80 ± 0.58 m (p<0.001) and 0.42 ± 2.50 m (p=0.515) respectively. Average ICC for GPS speed point-to-point were 0.976 ± 0.012 and 0.991± 0.003 for Circuit B and Motorized Sprints, respectively. The average BIAS compared with each unit mean laps (intra-unit reliability) results for TD, Peak-Speed and Avg-Speed were 0.00 ± 1.68, 0.00 ± 1.73 and 0.00 ± 0.33 for Circuit A, 0.00 ± 0.49, 0.00 ± 0.53 and 0.00 ± 0.77 for 10m sprints and 0.00 ± 2.34, 0.00 ± 0.76 and 0.00 ± 0.74 for 30m sprints, non-significant difference in all cases. In conclusion, despite a lower than recommended sample frequency, the WIMU GPS showed to be valid and reliable for measuring sprints at speed higher than 20 km· h-1, as well as for team sport movements. This might be practical on daily physical demands testing during training session