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Showing papers by "University of New South Wales published in 2014"


Journal ArticleDOI
Stephan Ripke1, Stephan Ripke2, Benjamin M. Neale2, Benjamin M. Neale1  +351 moreInstitutions (102)
24 Jul 2014-Nature
TL;DR: Associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses.
Abstract: Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia.

6,809 citations


Journal ArticleDOI
TL;DR: In this article, a review describes the rapid progress that has been made in hybrid organic-inorganic perovskite solar cells and their applications in the photovoltaic sector.
Abstract: Within the space of a few years, hybrid organic–inorganic perovskite solar cells have emerged as one of the most exciting material platforms in the photovoltaic sector. This review describes the rapid progress that has been made in this area.

5,463 citations


Journal ArticleDOI
10 Jan 2014-Science
TL;DR: The status, threats, and ecological importance of the 31 largest mammalian carnivores globally are reviewed and a Global Large Carnivore Initiative is proposed to coordinate local, national, and international research, conservation, and policy.
Abstract: Large carnivores face serious threats and are experiencing massive declines in their populations and geographic ranges around the world. We highlight how these threats have affected the conservation status and ecological functioning of the 31 largest mammalian carnivores on Earth. Consistent with theory, empirical studies increasingly show that large carnivores have substantial effects on the structure and function of diverse ecosystems. Significant cascading trophic interactions, mediated by their prey or sympatric mesopredators, arise when some of these carnivores are extirpated from or repatriated to ecosystems. Unexpected effects of trophic cascades on various taxa and processes include changes to bird, mammal, invertebrate, and herpetofauna abundance or richness; subsidies to scavengers; altered disease dynamics; carbon sequestration; modified stream morphology; and crop damage. Promoting tolerance and coexistence with large carnivores is a crucial societal challenge that will ultimately determine the fate of Earth's largest carnivores and all that depends upon them, including humans.

2,441 citations


Journal ArticleDOI
27 Mar 2014-Nature
TL;DR: For example, the authors mapped transcription start sites (TSSs) and their usage in human and mouse primary cells, cell lines and tissues to produce a comprehensive overview of mammalian gene expression across the human body.
Abstract: Regulated transcription controls the diversity, developmental pathways and spatial organization of the hundreds of cell types that make up a mammal Using single-molecule cDNA sequencing, we mapped transcription start sites (TSSs) and their usage in human and mouse primary cells, cell lines and tissues to produce a comprehensive overview of mammalian gene expression across the human body We find that few genes are truly 'housekeeping', whereas many mammalian promoters are composite entities composed of several closely separated TSSs, with independent cell-type-specific expression profiles TSSs specific to different cell types evolve at different rates, whereas promoters of broadly expressed genes are the most conserved Promoter-based expression analysis reveals key transcription factors defining cell states and links them to binding-site motifs The functions of identified novel transcripts can be predicted by coexpression and sample ontology enrichment analyses The functional annotation of the mammalian genome 5 (FANTOM5) project provides comprehensive expression profiles and functional annotation of mammalian cell-type-specific transcriptomes with wide applications in biomedical research

1,715 citations


Journal ArticleDOI
TL;DR: This article showed that a doubling in the occurrence of such extreme episodes is caused by increased surface warming of the eastern equatorial Pacific Ocean, which results in the atmospheric conditions required for these event to occur.
Abstract: Extreme El Nino events cause global disruption of weather patterns and affect ecosystems and agriculture through changes in rainfall. Model projections show that a doubling in the occurrence of such extreme episodes is caused by increased surface warming of the eastern equatorial Pacific Ocean, which results in the atmospheric conditions required for these event to occur.

1,672 citations


Journal ArticleDOI
TL;DR: Research criteria for SCD in pre‐mild cognitive impairment (MCI) are presented and a list of core features proposed for reporting in SCD studies is provided, which will enable comparability of research across different settings.
Abstract: There is increasing evidence that subjective cognitive decline (SCD) in individuals with unimpaired performance on cognitive tests may represent the first symptomatic manifestation of Alzheimer's disease (AD). The research on SCD in early AD, however, is limited by the absence of common standards. The working group of the Subjective Cognitive Decline Initiative (SCD-I) addressed this deficiency by reaching consensus on terminology and on a conceptual framework for research on SCD in AD. In this publication, research criteria for SCD in pre-mild cognitive impairment (MCI) are presented. In addition, a list of core features proposed for reporting in SCD studies is provided, which will enable comparability of research across different settings. Finally, a set of features is presented, which in accordance with current knowledge, increases the likelihood of the presence of preclinical AD in individuals with SCD. This list is referred to as SCD plus.

1,626 citations


Journal ArticleDOI
TL;DR: Buprenorphine maintenance compared to placebo and to methadone maintenance in the management of opioid dependence, including its ability to retain people in treatment, suppress illicit drug use, reduce criminal activity, and mortality is evaluated.
Abstract: Methadone is widely used as a replacement for illicit opioid use such as heroin in medically-supported opioid substitution maintenance programmes. Two other drugs have been used to help reduce illicit opioid use, specifically buprenorphine and LAAM (levo-alpha-acetylmethadol). LAAM is not used in current clinical practice. Buprenorphine is currently used and can reduce illicit opioid use compared with placebo, although it is less effective than methadone. Buprenorphine is an opioid drug that is not as potent as heroin and methadone, although the effects of buprenorphine may last longer. Buprenorphine can be taken once every two days. The trials include different formulations of buprenorphine: sublingual solution, sublingual tablets, combined buprenorphine/naloxone sublingual tablet and an implant. Key results The review of trials found that buprenorphine at high doses (16 mg) can reduce illicit opioid use effectively compared with placebo, and buprenorphine at any dose studied retains people in treatment better than placebo. Buprenorphine appears to be less effective than methadone in retaining people in treatment, if prescribed in a flexible dose regimen or at a fixed and low dose (2 - 6 mg per day). Buprenorphine prescribed at fixed doses (above 7 mg per day) was not different from methadone prescribed at fixed doses (40 mg or more per day) in retaining people in treatment or in suppression of illicit opioid use.

1,599 citations


Journal ArticleDOI
TL;DR: Sandra L. Peake, Anthony Delaney, Michael Bailey, Rinaldo Bellomo, Peter A. Cameron, James Cooper, Alisa M. Higgins, Anna Holdgate, Belinda D. Howe, Steven A.R.
Abstract: Sandra L. Peake, Anthony Delaney, Michael Bailey, Rinaldo Bellomo, Peter A. Cameron, James Cooper, Alisa M. Higgins, Anna Holdgate, Belinda D. Howe, Steven A.R. Webb, Patricia Williams, The Australasian Resuscitation in Sepsis Evaluation (ARISE) Investigators and the Australian and New Zealand Intensive Care Society ANZICS Clinical Trials Group

1,409 citations


Journal ArticleDOI
TL;DR: Global rates of change suggest that only 16 countries will achieve the MDG 5 target by 2015, with evidence of continued acceleration in the MMR, and MMR was highest in the oldest age groups in both 1990 and 2013.

1,383 citations


Journal ArticleDOI
06 Feb 2014-Nature
TL;DR: It is shown that woody clades successfully moved into freezing-prone environments by either possessing transport networks of small safe conduits and/or shutting down hydraulic function by dropping leaves during freezing.
Abstract: Early flowering plants are thought to have been woody species restricted to warm habitats 1–3 . This lineage has since radiated into almost every climate, with manifold growth forms 4 . As angiosperms spread and climate changed, they evolved mechanisms to cope with episodic freezing. To explore the evolution of traits underpinning the ability to persist in freezing conditions, we assembled a large species-level database of growth habit (woody or herbaceous; 49,064 species), as well as leaf phenology (evergreen or deciduous), diameter of hydraulic conduits (that is, xylem vessels and tracheids) and climate occupancies (exposure to freezing). To model the evolution of species’ traits and climate occupancies, we combined these data with an unparalleled dated molecular phylogeny (32,223 species) for land plants. Here we show that woody clades successfully move di nto freezingprone environments by either possessing transport networks of small

1,221 citations


Journal ArticleDOI
TL;DR: The hypothesis that patients with platinum-sensitive recurrent serous ovarian cancer with a BRCA mutation have the greatest likelihood of benefiting from olaparib treatment is supported.
Abstract: Summary Background Maintenance monotherapy with the PARP inhibitor olaparib significantly prolonged progression-free survival (PFS) versus placebo in patients with platinum-sensitive recurrent serous ovarian cancer. We aimed to explore the hypothesis that olaparib is most likely to benefit patients with a BRCA mutation. Methods We present data from the second interim analysis of overall survival and a retrospective, preplanned analysis of data by BRCA mutation status from our randomised, double-blind, phase 2 study that assessed maintenance treatment with olaparib 400 mg twice daily (capsules) versus placebo in patients with platinum-sensitive recurrent serous ovarian cancer who had received two or more platinum-based regimens and who had a partial or complete response to their most recent platinum-based regimen. Randomisation was by an interactive voice response system, stratified by time to progression on penultimate platinum-based regimen, response to the most recent platinum-based regimen before randomisation, and ethnic descent. The primary endpoint was PFS, analysed for the overall population and by BRCA status. This study is registered with ClinicalTrials.gov, number NCT00753545. Findings Between Aug 28, 2008, and Feb 9, 2010, 136 patients were assigned to olaparib and 129 to placebo. BRCA status was known for 131 (96%) patients in the olaparib group versus 123 (95%) in the placebo group, of whom 74 (56%) versus 62 (50%) had a deleterious or suspected deleterious germline or tumour BRCA mutation. Of patients with a BRCA mutation, median PFS was significantly longer in the olaparib group than in the placebo group (11·2 months [95% CI 8·3–not calculable] vs 4·3 months [3·0–5·4]; HR 0·18 [0·10–0·31]; p BRCA , although the difference between groups was lower (7·4 months [5·5–10·3] vs 5·5 months [3·7–5·6]; HR 0·54 [0·34–0·85]; p=0·0075). At the second interim analysis of overall survival (58% maturity), overall survival did not significantly differ between the groups (HR 0·88 [95% CI 0·64–1·21]; p=0·44); similar findings were noted for patients with mutated BRCA (HR 0·73 [0·45–1·17]; p=0·19) and wild-type BRCA (HR 0·99 [0·63–1·55]; p=0·96). The most common grade 3 or worse adverse events in the olaparib group were fatigue (in ten [7%] patients in the olaparib group vs four [3%] in the placebo group) and anaemia (seven [5%] vs one [ BRCA and the overall population. Interpretation These results support the hypothesis that patients with platinum-sensitive recurrent serous ovarian cancer with a BRCA mutation have the greatest likelihood of benefiting from olaparib treatment. Funding AstraZeneca.

Journal ArticleDOI
TL;DR: This paper showed that strengthening trade winds caused a reduction in the 2012 global average surface air temperature of 0.1 −0.2°C, which is a result of increased subsurface ocean heat uptake.
Abstract: The slowdown in global average surface warming has recently been linked to sea surface cooling in the eastern Pacific Ocean. This work shows that strengthening trade winds caused a reduction in the 2012 global average surface air temperature of 0.1–0.2 °C. This may account for much of the warming hiatus and is a result of increased subsurface ocean heat uptake.

Journal ArticleDOI
TL;DR: A central role for RNA in human evolution and ontogeny is suggested and the emergence of the previously unsuspected world of regulatory RNA from a historical perspective is reviewed.
Abstract: Discoveries over the past decade portend a paradigm shift in molecular biology. Evidence suggests that RNA is not only functional as a messenger between DNA and protein but also involved in the regulation of genome organization and gene expression, which is increasingly elaborate in complex organisms. Regulatory RNA seems to operate at many levels; in particular, it plays an important part in the epigenetic processes that control differentiation and development. These discoveries suggest a central role for RNA in human evolution and ontogeny. Here, we review the emergence of the previously unsuspected world of regulatory RNA from a historical perspective.

Journal ArticleDOI
29 May 2014-Nature
TL;DR: It is found that the global carbon sink anomaly was driven by growth of semi-arid vegetation in the Southern Hemisphere, with almost 60 per cent of carbon uptake attributed to Australian ecosystems, where prevalent La Niña conditions caused up to six consecutive seasons of increased precipitation.
Abstract: The land and ocean act as a sink for fossil-fuel emissions, thereby slowing the rise of atmospheric carbon dioxide concentrations. Although the uptake of carbon by oceanic and terrestrial processes has kept pace with accelerating carbon dioxide emissions until now, atmospheric carbon dioxide concentrations exhibit a large variability on interannual timescales, considered to be driven primarily by terrestrial ecosystem processes dominated by tropical rainforests. We use a terrestrial biogeochemical model, atmospheric carbon dioxide inversion and global carbon budget accounting methods to investigate the evolution of the terrestrial carbon sink over the past 30 years, with a focus on the underlying mechanisms responsible for the exceptionally large land carbon sink reported in 2011 (ref. 2). Here we show that our three terrestrial carbon sink estimates are in good agreement and support the finding of a 2011 record land carbon sink. Surprisingly, we find that the global carbon sink anomaly was driven by growth of semi-arid vegetation in the Southern Hemisphere, with almost 60 per cent of carbon uptake attributed to Australian ecosystems, where prevalent La Nina conditions caused up to six consecutive seasons of increased precipitation. In addition, since 1981, a six per cent expansion of vegetation cover over Australia was associated with a fourfold increase in the sensitivity of continental net carbon uptake to precipitation. Our findings suggest that the higher turnover rates of carbon pools in semi-arid biomes are an increasingly important driver of global carbon cycle inter-annual variability and that tropical rainforests may become less relevant drivers in the future. More research is needed to identify to what extent the carbon stocks accumulated during wet years are vulnerable to rapid decomposition or loss through fire in subsequent years.

01 Nov 2014
TL;DR: In this paper, research criteria for subjective cognitive decline in individuals with unimpaired performance on cognitive tests may represent the first symptomatic manifestation of Alzheimer's disease (AD) are presented.
Abstract: There is increasing evidence that subjective cognitive decline (SCD) in individuals with unimpaired performance on cognitive tests may represent the first symptomatic manifestation of Alzheimer's disease (AD). The research on SCD in early AD, however, is limited by the absence of common standards. The working group of the Subjective Cognitive Decline Initiative (SCD-I) addressed this deficiency by reaching consensus on terminology and on a conceptual framework for research on SCD in AD. In this publication, research criteria for SCD in pre-mild cognitive impairment (MCI) are presented. In addition, a list of core features proposed for reporting in SCD studies is provided, which will enable comparability of research across different settings. Finally, a set of features is presented, which in accordance with current knowledge, increases the likelihood of the presence of preclinical AD in individuals with SCD. This list is referred to as SCD plus.

Journal ArticleDOI
TL;DR: This work combines the best aspects of both spin qubit schemes and demonstrate a gate-addressable quantum dot qubit in isotopically engineered silicon with a control fidelity of 99.6%, consistent with that required for fault-tolerant quantum computing.
Abstract: A quantum bit that can be addressed with a gate voltage and has a very high control-fidelity can be realized in an electrically defined silicon quantum dot.

Journal ArticleDOI
TL;DR: The Global Burden of Disease 2013 study provides a consistent and comprehensive approach to disease estimation for between 1990 and 2013, and an opportunity to assess whether accelerated progress has occured since the Millennium Declaration.

Journal ArticleDOI
TL;DR: In this paper, the authors estimate the global burden of rheumatoid arthritis (RA), as part of the Global Burden of Disease 2010 study of 291 conditions and how the burden of RA compares with other conditions.
Abstract: Objectives To estimate the global burden of rheumatoid arthritis (RA), as part of the Global Burden of Disease 2010 study of 291 conditions and how the burden of RA compares with other conditions. Methods The optimum case definition of RA for the study was the American College of Rheumatology 1987 criteria. A series of systematic reviews were conducted to gather age-sex-specific epidemiological data for RA prevalence, incidence and mortality. Cause-specific mortality data were also included. Data were entered into DisMod-MR, a tool to pool available data, making use of study-level covariates to adjust for country, region and super-region random effects to estimate prevalence for every country and over time. The epidemiological data, in addition to disability weights, were used to calculate years of life lived with disability (YLDs). YLDs were added to the years of life lost due to premature mortality to estimate the overall burden (disability-adjusted life years (DALYs)) for RA for the years 1990, 2005 and 2010. Results The global prevalence of RA was 0.24% (95% CI 0.23% to 0.25%), with no discernible change from 1990 to 2010. DALYs increased from 3.3 million (M) (95% CI 2.6 M to 4.1 M) in 1990 to 4.8 M (95% CI 3.7 M to 6.1 M) in 2010. This increase was due to a growth in population and increase in aging. Globally, of the 291 conditions studied, RA was ranked as the 42nd highest contributor to global disability, just below malaria and just above iodine deficiency (measured in YLDs). Conclusions RA continues to cause modest global disability, with severe consequences in the individuals affected.

Journal ArticleDOI
TL;DR: In this paper, a review examines the evidence for sub-daily extreme rainfall intensification due to anthropogenic climate change and describes the current physical understanding of the association between sub-day extreme rainfall intensity and atmospheric temperature.
Abstract: Evidence that extreme rainfall intensity is increasing at the global scale has strengthened considerably in recent years Research now indicates that the greatest increases are likely to occur in short-duration storms lasting less than a day, potentially leading to an increase in the magnitude and frequency of flash floods This review examines the evidence for subdaily extreme rainfall intensification due to anthropogenic climate change and describes our current physical understanding of the association between subdaily extreme rainfall intensity and atmospheric temperature We also examine the nature, quality, and quantity of information needed to allow society to adapt successfully to predicted future changes, and discuss the roles of observational and modeling studies in helping us to better understand the physical processes that can influence subdaily extreme rainfall characteristics We conclude by describing the types of research required to produce a more thorough understanding of the relationships between local-scale thermodynamic effects, large-scale atmospheric circulation, and subdaily extreme rainfall intensity


Journal ArticleDOI
TL;DR: It is hypothesised that the substantially reduced rates of liver disease and cardiovascular disease deaths over time could be explained by improved use of non-HIV-specific preventive interventions, linked with continued improvement in CD4 cell count.

Journal ArticleDOI
TL;DR: The Geometric Framework, a state-space nutritional modeling method, was used to measure interactive effects of dietary energy, protein, fat, and carbohydrate on food intake, cardiometabolic phenotype, and longevity in mice fed one of 25 diets ad libitum, suggesting that longevity can be extended in ad Libitum-fed animals by manipulating the ratio of macronutrients.

Journal ArticleDOI
TL;DR: It is argued that this phase shift is facilitated by poleward-flowing boundary currents that are creating ocean warming hotspots around the globe, enabling the range expansion of tropical species and increasing their grazing rates in temperate areas.
Abstract: Climate-driven changes in biotic interactions can profoundly alter ecological communities, particularly when they impact foundation species. In marine systems, changes in herbivory and the consequent loss of dominant habitat forming species can result in dramatic community phase shifts, such as from coral to macroalgal dominance when tropical fish herbivory decreases, and from algal forests to ‘barrens’ when temperate urchin grazing increases. Here, we propose a novel phase-shift away from macroalgal dominance caused by tropical herbivores extending their range into temperate regions. We argue that this phase shift is facilitated by poleward-flowing boundary currents that are creating ocean warming hotspots around the globe, enabling the range expansion of tropical species and increasing their grazing rates in temperate areas. Overgrazing of temperate macroalgae by tropical herbivorous fishes has already occurred in Japan and the Mediterranean. Emerging evidence suggests similar phenomena are occurring in other temperate regions, with increasing occurrence of tropical fishes on temperate reefs.

Journal ArticleDOI
Paul M. Thompson1, Jason L. Stein2, Sarah E. Medland3, Derrek P. Hibar1  +329 moreInstitutions (96)
TL;DR: The ENIGMA Consortium has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected.
Abstract: The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.

Journal ArticleDOI
TL;DR: The online global maps for traumatic spinal cord injury (TSCI) are updated and incorporate methods for extrapolating incidence data to inform an extrapolative statistical model, which estimates incidence for areas with insufficient TSCI data.
Abstract: Study design:Literature reviewObjectives:Update the global maps for traumatic spinal cord injury (TSCI) and incorporate methods for extrapolating incidence dataSetting:An initiative of the International Spinal Cord Society (ISCoS) Prevention CommitteeMethods:A search of Medline/Embase was performed (1959-Jun/30/2011) Enhancement of data-quality 'zones' including individual data-ranking as well as integrating regression techniques to provide a platform for continued regional and global estimatesResults:A global-incident rate (2007) is estimated at 23 TSCI cases per million (179 312 cases per annum) Regional data are available from North America (40 per million), Western Europe (16 per million) and Australia (15 per million) Extrapolated regional data are available for Asia-Central (25 per million), Asia-South (21 per million), Caribbean (19 per million), Latin America, Andean (19 per million), Latin America, Central (24 per million), Latin America-Southern (25 per million), Sub-Saharan Africa-Central (29 per million), Sub-Saharan Africa-East (21 per million)Discussion:It is estimated that globally in 2007, there would have been between 133 and 226 thousand incident cases of TSCI from accidents and violence The proportion of TSCI from land transport is decreasing/stable in developed but increasing in developing countries due to trends in transport mode (transition to motorised transport), poor infrastructure and regulatory challenges TSCIs from low falls in the elderly are increasing in developed countries with ageing populations In some developing countries low falls, resulting in TSCI occur while carrying heavy loads on the head in young people In developing countries high-falls feature, commonly from trees, balconies, flat roofs and construction sites TSCI is also due to crush-injuries, diving and violenceConclusion:The online global maps now inform an extrapolative statistical model, which estimates incidence for areas with insufficient TSCI data The accuracy of this methodology will be improved through the use of prospective, standardised-data registriesSpinal Cord advance online publication, 26 February 2013; doi:101038/sc2012158 Language: en

Journal ArticleDOI
TL;DR: In this article, the authors presented a new approach to classification of epidermolysis bullosa (EB) that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and specific mutation(s), and their location(s).
Abstract: Background Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several subtypes previously described. Objective We sought to arrive at an updated consensus on the classification of EB subtypes, based on newer data, both clinical and molecular. Results In this latest consensus report, we introduce a new approach to classification ("onion skinning") that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and–when possible–specific mutation(s) and their location(s). Limitations This classification scheme critically takes into account all published data through June 2013. Further modifications are likely in the future, as more is learned about this group of diseases. Conclusion The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and molecular features of each EB subtype, and has sufficient flexibility incorporated in its structure to permit further modifications in the future.

Journal ArticleDOI
TL;DR: A photoinduced living polymerization technique is reported, which is able to polymerize a large range of monomers, including conjugated and unconjugated monomer, using ultralow concentrations of an iridium-based photoredox catalyst and a low energy visible LED as the light source.
Abstract: Controlled/living radical polymerization techniques have transformed polymer chemistry in the last few decades, affording the production of polymers with precise control over both molecular weights and architectures. It is now possible to synthesize almost an infinite variety of macromolecules using nonspecialized equipment, finding applications in high-tech industry. However, they have several shortcomings. Until recently, living radical polymerizations could not be controlled by an external stimulus, such as visible light, pH, mechanical, chemical, etc. Moreover, they are usually sensitive to trace amounts of oxygen in the system. In this Article, we report a photoinduced living polymerization technique, which is able to polymerize a large range of monomers, including conjugated and unconjugated monomers, using ultralow concentrations of an iridium-based photoredox catalyst (typically 1 ppm to monomers) and a low energy visible LED as the light source (1–4.8 W, λmax = 435 nm). The synthesis of homopolym...

Journal ArticleDOI
TL;DR: In this article, a new strategy for in situ synthesis of N-doped porous carbons as metal-free electrocatalysts for oxygen reduction reaction (ORR) in fuel cells was proposed.
Abstract: We have successfully prepared nanoporous Carbon-L and -S materials by using ZIF-7 as a precursor and glucose as an additional carbon source. Results indicate that Carbon-L and -S show an appropriate nitrogen content, high surface area, robust pore structure and excellent graphitization degree. The addition of an environmentally friendly carbon source – glucose – not only improves the graphitization degree of samples, but also plays a key role in removing residual Zn metal and zinc compound impurities, which makes the resulting materials metal-free in situ nitrogen-doped porous carbons. By further investigating the electrocatalytic performance of these nitrogen-doped porous carbons for oxygen reduction reaction (ORR), we find that Carbon-L, as a metal-free electrocatalyst, shows excellent electrocatalytic activity (the onset and half-wave potentials are 0.86 and 0.70 V vs. RHE, respectively) and nearly four electron selectivity (the electron transfer number is 3.68 at 0.3 V), which is close to commercial 20% Pt/C. Moreover, when methanol was added, the Pt/C catalyst would be poisoned while the Carbon-L and -S would be unaffected. By exploring the current-time chronoamperometric response in 25 000 s, we found that the duration stability of Carbon-L is much better than the commercial 20% Pt/C. Thus, both Carbon-L and -S exhibit excellent ability to avoid methanol crossover effects, and long-term operation stability superior to the Pt/C catalyst. This work provides a new strategy for in situ synthesis of N-doped porous carbons as metal-free electrocatalysts for ORR in fuel cells.

Journal ArticleDOI
Haidong Wang1, Chelsea A. Liddell1, Matthew M Coates1, Meghan D. Mooney1  +228 moreInstitutions (123)
TL;DR: Decreases since 2000 in under-5 mortality rates are accelerating in many developing countries, especially in sub-Saharan Africa, and rising income per person and maternal education and changes in secular trends led to 4·2 million fewer deaths.

Journal ArticleDOI
TL;DR: The (31)P nuclear spin sets the new benchmark coherence time of any single qubit in the solid state and reaches >99.99% control fidelity, and detailed noise spectroscopy indicates that--contrary to widespread belief--it is not limited by the proximity to an interface.
Abstract: The spin of an electron or a nucleus in a semiconductor naturally implements the unit of quantum information--the qubit In addition, because semiconductors are currently used in the electronics industry, developing qubits in semiconductors would be a promising route to realize scalable quantum information devices The solid-state environment, however, may provide deleterious interactions between the qubit and the nuclear spins of surrounding atoms, or charge and spin fluctuations arising from defects in oxides and interfaces For materials such as silicon, enrichment of the spin-zero (28)Si isotope drastically reduces spin-bath decoherence Experiments on bulk spin ensembles in (28)Si crystals have indeed demonstrated extraordinary coherence times However, it remained unclear whether these would persist at the single-spin level, in gated nanostructures near amorphous interfaces Here, we present the coherent operation of individual (31)P electron and nuclear spin qubits in a top-gated nanostructure, fabricated on an isotopically engineered (28)Si substrate The (31)P nuclear spin sets the new benchmark coherence time (>30 s with Carr-Purcell-Meiboom-Gill (CPMG) sequence) of any single qubit in the solid state and reaches >9999% control fidelity The electron spin CPMG coherence time exceeds 05 s, and detailed noise spectroscopy indicates that--contrary to widespread belief--it is not limited by the proximity to an interface Instead, decoherence is probably dominated by thermal and magnetic noise external to the device, and is thus amenable to further improvement