A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Background Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these have so far been associated with mitochondrial disease but there are limited genotype-phenotype correlations to guide clinicians to the correct genetic diagnosis. Methods Patients were analysed by whole-exome sequencing, targeted capture or candidate gene sequencing. Clinical phenotyping of affected individuals was performed. Results We identified a cohort of 10 patients from 8 families (7 families are of unrelated Irish ancestry) all of whom have short stature (C, p.Trp22Arg NDUFB3 variant. Two sibs presented with primary short stature without obvious metabolic dysfunction. Analysis of skeletal muscle from three patients confirmed a defect in Complex I assembly. Conclusions Our report highlights that the long-term prognosis related to the p.Trp22Arg NDUFB3 mutation can be good, even for some patients presenting in acute metabolic crisis with evidence of an isolated Complex I deficiency in muscle. Recognition of the distinctive facial features—particularly when associated with markers of mitochondrial dysfunction and/or Irish ancestry—should suggest screening for the p.Trp22Arg NDUFB3 mutation to establish a genetic diagnosis, circumventing the requirement of muscle biopsy to direct genetic investigations

A future for game histories?

Recent years have seen an efflorescence of writing and curatorial work focused upon the past of video games. However, this work has tended to concentrate on particular forms of analysis, and privileged certain kinds of discourse. This article argues that these approaches limit our capacity to produce effective histories of and around games, and proposes more nuanced histories, informed by Foucauldian ideas of a genealogical approach to historical work, and a clear sense of the voices that present histories fail to represent. Broader, cultural game histories, we contend, offer us a clearer understanding of games’ past, and can move us away from the teleological, deterministic, and “great man” histories which dominate the present landscape. Reflecting on the past in this way also suggests an agenda for the future, in encouraging us to consider how and to what end we preserve video game culture

Erratum to: 36th International Symposium on Intensive Care and Emergency Medicine

[This corrects the article DOI: 10.1186/s13054-016-1208-6.]

Review of solar energetic particle models

Solar Energetic Particle (SEP) events are interesting from a scientific perspective as they are the product of a broad set of physical processes from the corona out through the extent of the heliosphere, and provide insight into processes of particle acceleration and transport that are widely applicable in astrophysics. From the operations perspective, SEP events pose a radiation hazard for aviation, electronics in space, and human space exploration, in particular for missions outside of the Earth’s protective magnetosphere including to the Moon and Mars. Thus, it is critical to improve the scientific understanding of SEP events and use this understanding to develop and improve SEP forecasting capabilities to support operations. Many SEP models exist or are in development using a wide variety of approaches and with differing goals. These include computationally intensive physics-based models, fast and light empirical models, machine learning-based models, and mixed-model approaches. The aim of this paper is to summarize all of the SEP models currently developed in the scientific community, including a description of model approach, inputs and outputs, free parameters, and any published validations or comparisons with data.</p

What retrogamers can teach the museum

The design of engaging digital access to collections and the creation of opportunities for richer collaborations with an informed online public are key recommendations for developing the GLAM sector&#039;s digital future (Mansfield et al., 2014). This presentation discusses Play it Again&#039;s Popular Memory Archive (PMA) (http://playitagainproject.org/), an online exhibition of Australian and New Zealand videogames of the 1980s, which is intended to elicit recollections from those who played their way through the era. We propose that curatorial practice of videogames can be advanced through an examination of the vernacular models and practices developed by online retrogame communities. Play It Again is an Australia Research Council-funded game history and preservation project focused on locally written digital games in Australia and New Zealand in the 1980s. Researchers from Flinders University (Adelaide), The University of Melbourne, and Victoria University (Wellington) are working in collaboration with the Australian Centre for the Moving Image (ACMI), Ngā Taonga Sound &amp; Vision (formerly the New Zealand Film Archive), and the Berlin Computerspiele Museum. In October 2013, we launched the Popular Memory Archive, an online collaborative research portal and exhibition. The site provides a way to disseminate some of the team&#039;s research, but as important, it provides a mechanism for collecting information, resources, and memories from the public about 1980s&#039; computer games. Conceived of as both an exhibition about local games and a research tool that capitalizes on participatory culture, the online archive is an example of what a local collection of games might look like and how Museum 2.0 might work with online knowledge communities. It addresses the need to look beyond the conservation of the physical objects to document the experiences of play, as well as a sense of the social and cultural reception of these works