Students on the fly: Preliminary data from a year‐long

As part of an ongoing, year‐long ethnographic study on laptop adoption and usage, selected families, young professionals, and students in Tempe Arizona and the Puget Sound area in Washington State have been given some form of laptop computer, based on activity maps participants furnished to researchers. These 32 participants, 12 of them students, are being followed for one year as they report on their experiences. Preliminary data after one month reveal some surprises: A quarter of the students expressed desire/need for larger font sizes on their laptops; all students receiving a laptop without a CD/DVD drive complained that it depressed some of their mobile desires; and stylishness, even in a larger device, played a prominent role for some students. After initial excitement over Tablet functionality (rotating screen, pen), usage at this stage for the most part entails using the pen to navigate.Mobile and Tailored Platforms, Microsoft Corporatio

Le rôle de la logique formelle dans le raisonnement judiciaire

Au cours des années 1990, en Ontario, au moins quatorze individus furent accusés et déclarés responsables de la mort d’un enfant qui, au moment du décès, était seul en compagnie de l’inculpé. Plusieurs de ces condamnés furent acquittés à la suite de la découverte d’erreurs commises par le pathologiste médicolégal, tant durant l’autopsie qu’au cours de ses témoignages. Pourtant, il n’était pas le seul à en porter la responsabilité. Les erreurs judiciaires survenues lors de ces procès auraient-elles pu être atténuées par l’application de logique formelle au raisonnement judiciaire ? L’analyse qui suit comprend l’élucidation des erreurs, l’étude de théories de logique et du raisonnement, ainsi qu’un survol de la logique symbolique. L’aide-mémoire ainsi conçu représente un recours possible dans le but de rehausser le raisonnement judiciaire. La symbiose entre la logique et le raisonnement judiciaire s’avère possible, malgré l’écart entre les domaines de la science et du droit

Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

Microarray-based comparative genomic hybridization (array CGH) is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances). The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner

Geochemical approaches to the quantification of dispersed volcanic ash in marine sediment

Volcanic ash has long been recognized in marine sediment, and given the prevalence of oceanic and continental arc volcanism around the globe in regard to widespread transport of ash, its presence is nearly ubiquitous. However, the presence/absence of very fine-grained ash material, and identification of its composition in particular, is challenging given its broad classification as an “aluminosilicate” component in sediment. Given this challenge, many studies of ash have focused on discrete layers (that is, layers of ash that are of millimeter-to-centimeter or greater thickness, and their respective glass shards) found in sequences at a variety of locations and timescales and how to link their presence with a number of Earth processes. The ash that has been mixed into the bulk sediment, known as dispersed ash, has been relatively unstudied, yet represents a large fraction of the total ash in a given sequence. The application of a combined geochemical and statistical technique has allowed identification of this dispersed ash as part of the original ash contribution to the sediment. In this paper, we summarize the development of these geochemical/statistical techniques and provide case studies from the quantification of dispersed ash in the Caribbean Sea, equatorial Pacific Ocean, and northwest Pacific Ocean. These geochemical studies (and their sedimentological precursors of smear slides) collectively demonstrate that local and regional arc-related ash can be an important component of sedimentary sequences throughout large regions of the ocean

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position statement of the Canadian College of medical geneticists

Purpose and scope: The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it does not address the clinical application of this technology in other fields such as molecular investigation of cancer or for population screening of healthy individuals. Methods of statement development: Two multidisciplinary groups consisting of medical geneticists, clinical laboratory geneticists, genetic counsellors, ethicists, lawyers and genetic researchers were assembled to review existing literature and guidelines on genome-wide sequencing for clinical genetic diagnosis in the context of monogenic diseases, and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. Results and conclusions: Recommendations include (1) clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis; (2) until the benefits of reporting incidental findings are established, we do not endorse the intentional clinical analysis of disease-associated genes other than those linked to the primary indication; and (3) clinicians should provide genetic counselling and obtain informed consent prior to undertaking clinical genome-wide sequencing. Counselling should include discussion of the limitations of testing, likelihood and implications of diagnosis and incidental findings, and the potential need for further analysis to facilitate clinical interpretation, including studies performed in a research setting. These recommendations will be routinely reevaluated as knowledge of diagnostic and clinical utility of clinical genome-wide sequencing improves. While the document was developed to direct practice in Canada, the applicability of the statement is broader and will be of interest to clinicians and health jurisdictions internationally

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

BACKGROUND: The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking. METHODS: We conducted a multicentre study to identify and characterise the clinical features associated with haploinsufficiency of CHD2. Patients with deletions of this gene were identified from among broadly ascertained clinical cohorts undergoing genomic microarray analysis for developmental delay, congenital anomalies and/or autism spectrum disorder. RESULTS: Detailed clinical assessments by clinical geneticists showed recurrent clinical symptoms, including developmental delay, intellectual disability, epilepsy, behavioural problems and autism-like features without characteristic facial gestalt or brain malformations observed on magnetic resonance imaging scans. Parental analysis showed that the deletions affecting CHD2 were de novo in all four patients, and analysis of high-resolution microarray data derived from 26,826 unaffected controls showed no deletions of this gene. CONCLUSIONS: The results of this study, in addition to our review of the literature, support a causative role of CHD2 haploinsufficiency in developmental delay, intellectual disability, epilepsy and behavioural problems, with phenotypic variability between individuals

Promoting advance planning for health care and research among older adults: A randomized controlled trial

<p>Abstract</p> <p>Background</p> <p>Family members are often required to act as substitute decision-makers when health care or research participation decisions must be made for an incapacitated relative. Yet most families are unable to accurately predict older adult preferences regarding future health care and willingness to engage in research studies. Discussion and documentation of preferences could improve proxies' abilities to decide for their loved ones. This trial assesses the efficacy of an advance planning intervention in improving the accuracy of substitute decision-making and increasing the frequency of documented preferences for health care and research. It also investigates the financial impact on the healthcare system of improving substitute decision-making.</p> <p>Methods/Design</p> <p>Dyads (<it>n </it>= 240) comprising an older adult and his/her self-selected proxy are randomly allocated to the experimental or control group, after stratification for type of designated proxy and self-report of prior documentation of healthcare preferences. At baseline, clinical and research vignettes are used to elicit older adult preferences and assess the ability of their proxy to predict those preferences. Responses are elicited under four health states, ranging from the subject's current health state to severe dementia. For each state, we estimated the public costs of the healthcare services that would typically be provided to a patient under these scenarios. Experimental dyads are visited at home, twice, by a specially trained facilitator who communicates the dyad-specific results of the concordance assessment, helps older adults convey their wishes to their proxies, and offers assistance in completing a guide entitled <it>My Preferences </it>that we designed specifically for that purpose. In between these meetings, experimental dyads attend a group information session about <it>My Preferences</it>. Control dyads attend three monthly workshops aimed at promoting healthy behaviors. Concordance assessments are repeated at the end of the intervention and 6 months later to assess improvement in predictive accuracy and cost savings, if any. Copies of completed guides are made at the time of these assessments.</p> <p>Discussion</p> <p>This study will determine whether the tested intervention guides proxies in making decisions that concur with those of older adults, motivates the latter to record their wishes in writing, and yields savings for the healthcare system.</p> <p>Trial Registration</p> <p><a href="http://www.controlled-trials.com/ISRCTN89993391">ISRCTN89993391</a></p

Évolution de la valeur nutritive, au cours de la saison de croissance, du fourrage cultivé en région nordique

Au Québec, les plantes fourragères occupent plus de la moitié de la superficie en grande culture (CQPF, 2012).Ce sont 63% des exploitations agricoles du Québec qui cultivent des plantes fourragères et ces fourrages sont utilisés principalement dans l’alimentation des vaches laitières. La fléole des prés et la luzerne sont les deux espèces les plus cultivées (Berg et al., 1996). Selon Charbonneau et al. (2013), avec l’augmentation des températures moyennes annuelles de 2,8 °C au cours des 50 prochaines années, il sera possible de cultiver certaines plantes plus exigeantes en unités thermiques comme le maïs ou le soya dans des régions agricoles du Québec où cela est actuellement difficile, voire impossible. Les régions plus nordiques pourraient donc devenir les principales sources de plantes fourragères au Québec. Selon quelques études menées en atmosphère contrôlée, il semblerait que certains aspects du climat, comme la température, aient une influence sur la valeur nutritive des plantes fourragères, au-delà de leurs effets sur la vitesse de croissance (Thorvaldsson, 1988; Thorvaldsson, 1992).Nous avons donc mesuré l’évolution de la valeur nutritive de la fléole des prés et de la luzerne dont la croissance a eu lieu dans trois régions du Québec aux conditions climatiques contrastées: Sainte-Anne-de-Bellevue, 2098 degrés-jours; Saint-Augustin-de-Desmaures, 1712 degrés-jours; et Normandin, 1359 degrés-jours. La matière sèche, le rendement et le stade de développement ont été mesurés une fois par semaine, durant 4 à 7semaines, lors de la croissance printanière de 2015 et 2016. Les attributs de valeur nutritive ont été analysés chimiquement sur tous les échantillons de calibration et de validation et ils ont été par la suite prédits par spectroscopie dans le visible et proche infra-rouge (VNIRS) pour tous les échantillons prélevés. Les digestibilités de la matière sèche et de la fibre étaient plus élevées pour les deux espèces dont la croissance a eu lieu dans la région nordique (Normandin). Cependant, le rendement était plus faible à Normandin qu’à Saint-Augustin-de-Desmaures et Sainte-Anne-de-Bellevue. Pour un même rendement (soit celui obtenu à Normandin au stade recommandé de récolte), les digestibilités de la matière sèche et de la fibre NDF étaient plus faibles dans les échantillons de fourrages prélevés à Normandin par rapport à ceux prélevés aux sites plus au sud, et ce, pour les deux espèces. La différence de valeur nutritive de la fléole des prés et de la luzerne dont la croissance a eu lieu en climat nordique est explicable par la corrélation qui existe entre l’augmentation du rendement et la baisse de la valeur nutritive. Pour un même rendement, la valeur nutritive des fourrages produits en région nordique était inférieure à celle des fourrages produits dans les régions plus au sud

Asphalt bandits: Fear, insecurity, and uncertainty in the Latin American city

This article looks at the malandro, the bandit of Venezuela’s poor neighborhoods, as a paradoxical and hybrid figure of the urban Caribbean, a virtuoso actor of the cultures of emergency and Asphalt. Threatened by global uncertainty, postcolonial Creole cities turn to black Saints from Africa, as well as to creole gangsters from the barrio’s backstreets. Malandros are delinquent yet consummate actors of the urban scene. At the turn of the twenty-first century, malandros have been thrown out of the margins to the center of society, becoming simultaneously heroes and enemies of the people. Malandros are crafty, but their lives are violent and they die young. Yet, they embody the shape of things to come. If the barrio reflects the violence of postcolonial urbanization, the violence of the malandro reflects, in an inverted image, injustice in a globalized world. These injustices are what we ought to think through and destroy. ! 2011 Elsevier Ltd. All rights reserved

Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

Microarray-based comparative genomic hybridization (array CGH) is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances). The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner.Peer Reviewe