Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Meeting participants: Rosário dos Santos, Porto, PortugalIntroduction: A meeting of 29 senior scientists from Europe, the USA, India and Australia, was held in Naarden, The Netherlands on November 14–16, 2008, to establish consensus Best Practice Guidelines for molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD/BMD). New therapeutic trials for DMD demand accurate diagnosis of the disorder, especially where the therapy is targeted towards specific mutations. These guidelines aim to help diagnostic laboratories attain that accuracy by describing the minimum standards for acceptable molecular diagnostic testing of DMD. For the different types of clinical referral received by a molecular diagnostic laboratory, the guidelines recommend the appropriate tests to be carried out, interpretation of the results and how those results should be reported.The workshop was jointly organised and sponsored by The European Molecular Genetics Quality Network (www.emqn.org); Euro- Gentest (www.eurogentest.org); EU Contract no. FP6-512148); TREAT-NMD (www.treat-nmd.org); EU Contract no. FP6-036825), and hosted by the European Neuro-Muscular Centre (www.enmc.org)

Latent acetylcholinesterase in secretory vesicles isolated from adrenal medulla

A new procedure is described for the preparation of highly purified and stable secretory vesicles from adrenal medulla. Two forms of acetylcholinesterase, a membrane bound form as well as a soluble form, were found within these vesicles. The secretory vesicles, isolated by differential centrifugation, were further purified on a continuous isotonic Percoll™ gradient. In this way, secretory vesicles were separated from mitochondrial, microsomal and cell membrane contamination. The secretory vesicles recovered from the gradient contained an average of 2.26 μmol adrenalin/mg protein. On incubation for 30 min at 37°C in media differing in ionic strength, pH, Mg2+ and Ca2+ concentration, the vesicles released less than 20% of total adrenalin. Acetylcholinesterase could hardly be detected in the secretory vesicle fraction when assayed in isotonic media. However, in hypotonic media (<400 mosmol/kg) or in Triton X-100 (0.2% final concentration) acetylcholinesterase activity was markedly higher. During hypotonic treatment or when secretory vesicles were specifically lyzed with 2 mM Mg2+ and 2 mM ATP, adrenalin as well as part of acetylcholinesterase was released from the vesicular content. On polyacrylamide gel electrophoresis this soluble enzyme exhibited the same electrophoretic mobility as the enzyme released into the perfusate from adrenal glands upon stimulation. In addition to the soluble enzyme a membrane bound form of acetylcholinesterase exists within secretory vesicles, which sediments with the secretory vesicle membranes and exhibits a different electrophoretic mobility compared to the soluble enzyme. It is concluded, that the soluble enzyme found within isolated secretory vesicles is secreted via exocytosis, whilst the membrane-bound form is transported to the cell membrane during this process, contributing to the biogenesis of the cell membrane

The sound of violets: the ethnographic potency of poetry?

This paper takes the form of a dialogue between the two authors, and is in two halves, the first half discursive and propositional, and the second half exemplifying the rhetorical, epistemological and metaphysical affordances of poetry in critically scrutinising the rhetoric, epistemology and metaphysics of educational management discourse. Phipps and Saunders explore, through ideas and poems, how poetry can interrupt and/or illuminate dominant values in education and in educational research methods, such as: • alternatives to the military metaphors – targets, strategies and the like – that dominate the soundscape of education; • the kinds and qualities of the cognitive and feeling spaces that might be opened up by the shifting of methodological boundaries; • the considerable work done in ethnography on the use of the poetic: anthropologists have long used poetry as a medium for expressing their sense of empathic connection to their field and their subjects, particularly in considering the creativity and meaning-making that characterise all human societies in different ways; • the particular rhetorical affordances of poetry, as a discipline, as a practice, as an art, as patterned breath; its capacity to shift phonemic, and therewith methodological, authority; its offering of redress to linear and reductive attempts at scripting social life, as always already given and without alternative

Modelling sea breeze climatologies and interactions on coasts in the southern North Sea: Implications for offshore wind energy

Current understanding of the behaviour of sea breezes in the offshore environment is limited but rapidly requires improvement due, not least, to the expansion of the offshore wind energy industry. Here we report on contrasting characteristics of three sea-breeze types on five coastlines around the southern North Sea from an 11 year model-simulated climatology. We present and test an identification method which distinguishes sea-breeze types which can, in principle, be adapted for other coastlines around the world. The coherence of the composite results for each type demonstrates that the method is very effective in resolving and distinguishing characteristics and features. Some features, such as jets and calm zones, are shown to influence offshore wind farm development areas, including the sites of the proposed wind farms up to 200 km offshore. A large variability in sea-breeze frequency between neighbouring coastlines of up to a factor of 3 is revealed. Additionally, there is a strong association between sea-breeze type on one coastline and that which may form coincidentally on another nearby. This association can be as high as 86% between, for example, the North Norfolk and East Norfolk coasts. We show, through associations between sea-breeze events on coastlines with contrasting orientations, that each coastline can be important for influencing the wind climate of another. Furthermore, we highlight that each sea-breeze type needs separate consideration in wind power resource assessment and that future larger turbines will be more sensitive to sea-breeze impacts

Learning from the children : exploring preschool children's encounters with ICT at home

This paper is an account of our attempts to understand preschool children's experiences with information and communication technologies (ICT) at home. Using case study data, we focus on what we can learn from talking directly to the children that might otherwise have been overlooked and on describing and evaluating the methods we adopted to ensure that we maximised the children's contributions to the research. By paying attention to the children's perspectives we have learned that they are discriminating users of ICT who evaluate their own performances, know what gives them pleasure and who differentiate between operational competence and the substantive activities made possible by ICT

Content Area Teachers’ Perspectives and Practices in Reading Instruction in Grades 9-12

A rural school district identified a problem among high school content classrooms of insufficient attention to instruction aimed at enabling students to comprehend content area text material. Concerns about attention to reading instruction in content classrooms are also evident on the national level. The purpose of this qualitative case study was to investigate the perspectives and reading instructional practices of secondary content area teachers in math, science, and history. The conceptual framework of self-efficacy guided the study, as the perspectives of the teachers revealed what motivated them to move beyond their pedagogical comfort zone to meet the needs all students. The research questions were focused on the perspectives of teachers toward providing reading instruction in content area classrooms, instructional strategies teachers viewed as supporting reading comprehension and approaches they identified for reducing the barriers to incorporating reading instruction. Data were collected from 4 purposefully selected teachers in Grades 9-12 through semistructured interviews and examination of lesson plans. Data analysis involved an inductive search of patterns and themes of teacher perspectives and instructional practices. The findings showed that the teachers wanted to advance their knowledge of content reading instruction through content specific professional development and continuous support from mentors. Results have the potential for positive social change through identifying professional development to assist teachers with improving reading comprehension within content area reading instruction

The Hunger Games: Food Prices, Ethnic Cleavages and Nonviolent Unrest in Africa

Nonviolent movements are more successful when mobilizing large and diverse numbers of participants. However, while there has been considerable research on the outcomes of nonviolent campaigns, far less is known about the initial emergence of nonviolent action. A growing literature suggests ethnic divisions may undermine the ability of activists to engage in mass nonviolent mobilization across diverse social lines. Yet many large and diverse nonviolent movements have successfully emerged in various ethnically divided societies across the world. I argue that nonviolent mobilization is made possible in ethnically polarized contexts when broader cross-cutting grievances are present as they enable local activists to widen their appeal across social lines. I focus on food price spikes as an example of a cross-cutting issue that is likely to affect consumers from different ethnic groups. The unique and symbolic nature of food price spikes facilitates nonviolent mobilization across ethnic lines and provides clear short-term incentives for many people to participate in protests against the government. Using new spatially disaggregated data on government targeted nonviolent action, I analyse grid-cell years across 41 African countries (1990–2008). I find strong evidence that food price spikes increase the likelihood of nonviolent action in politically excluded and ethnically diverse locations

Reverse production effect: Children recognize novel words better when they are heard rather than produced

This is the peer reviewed version of the following article: Tania S. Zamuner, Stephanie Strahm, Elizabeth Morin-Lessard, and Michael P. A. Page, 'Reverse production effect: children recognize novel words better when they are heard rather than produced', Developmental Science, which has been published in final form at DOI 10.1111/desc.12636. Under embargo until 15 November 2018. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.This research investigates the effect of production on 4.5- to 6-year-old children’s recognition of newly learned words. In Experiment 1, children were taught four novel words in a produced or heard training condition during a brief training phase. In Experiment 2, children were taught eight novel words, and this time training condition was in a blocked design. Immediately after training, children were tested on their recognition of the trained novel words using a preferential looking paradigm. In both experiments, children recognized novel words that were produced and heard during training, but demonstrated better recognition for items that were heard. These findings are opposite to previous results reported in the literature with adults and children. Our results show that benefits of speech production for word learning are dependent on factors such as task complexity and the developmental stage of the learner.Peer reviewedFinal Accepted Versio

Chromaffin granule membrane

1. Chromaffin granule membranes have been prepared from bovine adrenal medullae. Sodium dodecyl sulphate polyacrylamide gel elctrophoresis of the membranes, in the presence of dithiothreitol, revealed 66 bands ranging in molecular weight c 150,000 to 10,000 daltons. The maajority of the bands were minor staining components. 2. The granule membranes also contain several glycoproteins (ten) which could be stained in gels of the membranes by a variety of methods (the periodic acid - Schiff, dansyl hydrazine and fluorescein isothiocyanate conjugated concanavilin A and wheat germ agglutinin stains and tritration with [3H]-borohydride following periodate or galactose oxidase treatment of the membranes)

Exploring the Correlation Between Internet Addiction, Anxiety and Achievement Test Among Iranian Male Senior High School EFL Students

The rapid growth of internet usage among adolescents has raised concerns about its psychological and academic impacts. Internet addiction, characterized by excessive and uncontrolled online behavior, is increasingly linked to mental health issues such as anxiety, which may also influence academic performance. Despite growing attention globally, limited research has focused on this issue among high school EFL (English as a Foreign Language) learners in Iran. This study investigates the relationships between internet addiction, anxiety, and academic achievement among Iranian male senior high school EFL students. A sample of 70 students was randomly selected from two public high schools. Data were collected using the Zung Self-Rating Anxiety Scale (SAS, 1971), the Internet Addiction Test (IAT, Young, 1996), and a standardized academic achievement test administered by Iran’s Ministry of Education. Results revealed a significant positive correlation between internet addiction and anxiety, suggesting that higher internet use is associated with elevated anxiety levels. Additionally, both internet addiction and anxiety were negatively correlated with students’ academic achievement scores. These findings underscore the importance of monitoring students’ internet usage and addressing their mental health needs. The study contributes to the existing literature by examining this triadic relationship in a less-explored educational and cultural context