2,916 research outputs found

    The effect of the General Data Protection Regulation on medical research

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    Background: The enactment of the General Data Protection Regulation (GDPR) will impact on European data science. Particular concerns relating to consent requirements that would severely restrict medical data research have been raised. Objective: Our objective is to explain the changes in data protection laws that apply to medical research and to discuss their potential impact. Methods: Analysis of ethicolegal requirements imposed by the GDPR. Results: The GDPR makes the classification of pseudonymised data as personal data clearer, although it has not been entirely resolved. Biomedical research on personal data where consent has not been obtained must be of substantial public interest. Conclusions: The GDPR introduces protections for data subjects that aim for consistency across the EU. The proposed changes will make little impact on biomedical data research

    Expanding the Reach of Extension Through Social Media

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    With increasing numbers of the public using social media applications, Extension professionals have the ability to apply these same tools to connect with their clients. This article demonstrates how a social media toolset can be employed by Extension professionals by identifying how Extension professionals are currently using social media, illustrating how social media can be integrated into outreach and measured, and describing opportunities and challenges for Extension professionals enhancing their work with social media. With this information, Extension professionals will be better prepared to expand their outreach efforts using social media

    Genome-Wide Association Study for Maize Leaf Cuticular Conductance Identifies Candidate Genes Involved in the Regulation of Cuticle Development.

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    The cuticle, a hydrophobic layer of cutin and waxes synthesized by plant epidermal cells, is the major barrier to water loss when stomata are closed at night and under water-limited conditions. Elucidating the genetic architecture of natural variation for leaf cuticular conductance (g c) is important for identifying genes relevant to improving crop productivity in drought-prone environments. To this end, we conducted a genome-wide association study of g c of adult leaves in a maize inbred association panel that was evaluated in four environments (Maricopa, AZ, and San Diego, CA, in 2016 and 2017). Five genomic regions significantly associated with g c were resolved to seven plausible candidate genes (ISTL1, two SEC14 homologs, cyclase-associated protein, a CER7 homolog, GDSL lipase, and β-D-XYLOSIDASE 4). These candidates are potentially involved in cuticle biosynthesis, trafficking and deposition of cuticle lipids, cutin polymerization, and cell wall modification. Laser microdissection RNA sequencing revealed that all these candidate genes, with the exception of the CER7 homolog, were expressed in the zone of the expanding adult maize leaf where cuticle maturation occurs. With direct application to genetic improvement, moderately high average predictive abilities were observed for whole-genome prediction of g c in locations (0.46 and 0.45) and across all environments (0.52). The findings of this study provide novel insights into the genetic control of g c and have the potential to help breeders more effectively develop drought-tolerant maize for target environments

    Poisonings Associated with Intubation: US National Poison Data System Exposures 2000-2013.

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    Patients may be intubated after exposure to a variety of substances because of respiratory failure, CNS sedation, pulmonary pathology, or cardiovascular instability. However, there is little data describing the types of substances that are associated with endotracheal intubation or the rates of intubation after these exposures. Evaluation of this association may inform future research on intubation after exposures to specific substances and guide poison prevention education. Our objective was to determine which exposures were commonly associated with intubation using the data from National Poison Data System (NPDS). The NPDS tracks data from potential exposures to substances reported to all American Association of Poison Control Centers. We performed a retrospective analysis of NPDS data from January 1st, 2000 to December 31st, 2013 to identify human exposures to substances that were associated with endotracheal intubation. Descriptive statistics were used to analyze the data. There were 93,474 single substance exposures and 228,507 multiple substance exposures that were associated with intubation. The most common exposures to substances that were associated with intubation were atypical antipsychotics (7.4 %) for single exposures and benzodiazepines (27.4 %) for multiple exposures. Within each age group, the most common known exposures to substances were for patients under 6 years, clonidine for single and multiple exposures; for patients aged 6-12 years, clonidine for single exposures and atypical antipsychotics for multiple exposures; for patients aged 13-19 years, atypical antipsychotics for single and multiple exposures; and for patients over 19 years, atypical antipsychotics for single exposures and benzodiazepines for multiple exposures. From 2000-2013, the exposures to substances most commonly associated with intubation varied by single versus multiple exposures and by age. This study helps clarify the exposures to substances that are associated with intubation reported to poison centers in the USA

    Reliability of low‐power cycling efficiency in energy expenditure phenotyping of inactive men and women

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    Standardized approaches to assess human energy expenditure (EE) are well defined at rest and at moderate to high‐intensity exercise, but not at light intensity physical activities energetically comparable with those of daily life (i.e., 1.5–4 times the resting EE, i.e., 1.5–4 METs). Our aim was to validate a graded exercise test for assessing the energy cost of low‐intensity dynamic work in physically inactive humans, that is, those who habitually do not meet the guidelines for moderate‐to‐vigorous aerobic physical activity levels. In healthy and inactive young men and women (n = 55; aged 18–32 years), EE was assessed in the overnight‐fasted state by indirect calorimetry at rest and during graded cycling between 5 and 50W for 5 min at each power output on a bicycle ergometer. Repeatability was investigated on three separate days, and the effect of cadence was investigated in the range of 40–90 rpm. Within the low power range of cycling, all subjects perceived the exercise test as “light” on the Borg scale, the preferred cadence being 60 rpm. A strong linearity of the EE‐power relationship was observed between 10 and 50 W for each individual (r > 0.98), and the calculation of delta efficiency (DE) from the regression slope indicated that DE was similar in men and women (~29%). DE showed modest inter‐individual variability with a coefficient of variation (CV) of 11%, and a low intra‐individual variability with a CV of ~ 5%. No habituation or learning effect was observed in DE across days. In conclusion, the assessment of the efficiency of low power cycling by linear regression – and conducted within the range of EE observed for low‐intensity movements of everyday life (1.5–4 METs) – extends the capacity for metabolic phenotyping in the inactive population

    PocketMatch: A new algorithm to compare binding sites in protein structures

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    Background: Recognizing similarities and deriving relationships among protein molecules is a fundamental
requirement in present-day biology. Similarities can be present at various levels which can be detected through comparison of protein sequences or their structural folds. In some cases similarities obscure at these levels could be present merely in the substructures at their binding sites. Inferring functional similarities between protein molecules by comparing their binding sites is still largely exploratory and not as yet a routine protocol. One of
the main reasons for this is the limitation in the choice of appropriate analytical tools that can compare binding sites with high sensitivity. To benefit from the enormous amount of structural data that is being rapidly accumulated, it is essential to have high throughput tools that enable large scale binding site comparison.

Results: Here we present a new algorithm PocketMatch for comparison of binding sites in a frame invariant
manner. Each binding site is represented by 90 lists of sorted distances capturing shape and chemical nature of the site. The sorted arrays are then aligned using an incremental alignment method and scored to obtain PMScores for pairs of sites. A comprehensive sensitivity analysis and an extensive validation of the algorithm have been carried out. Perturbation studies where the geometry of a given site was retained but the residue types were changed randomly, indicated that chance similarities were virtually non-existent. Our analysis also demonstrates that shape information alone is insufficient to discriminate between diverse binding sites, unless
combined with chemical nature of amino acids.

Conclusions: A new algorithm has been developed to compare binding sites in accurate, efficient and
high-throughput manner. Though the representation used is conceptually simplistic, we demonstrate that along
with the new alignment strategy used, it is sufficient to enable binding comparison with high sensitivity. Novel methodology has also been presented for validating the algorithm for accuracy and sensitivity with respect to geometry and chemical nature of the site. The method is also fast and takes about 1/250th second for one comparison on a single processor. A parallel version on BlueGene has also been implemented

    De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

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    BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in a paradigm shift in the clinical molecular genetics of rare diseases and has provided insight into the causes of numerous rare genetic conditions. In particular, whole exome and genome sequencing of families has been particularly useful in discovering de novo germline mutations as the cause of both rare diseases and complex disorders. CASE PRESENTATION: We present a six year old, nonverbal African American female with microcephaly, autism, global developmental delay, and metopic craniosynostosis. Exome sequencing of the patient and her two parents revealed a heterozygous two base pair de novo deletion, c.1897_1898delCA, p.Gln633ValfsX13 in ASXL3, predicted to result in a frameshift at codon 633 with substitution of a valine for a glutamine and introduction of a premature stop codon. CONCLUSIONS: We provide additional evidence that, truncating and frameshifting mutations in the ASXL3 gene are the cause of a newly recognized disorder characterized by severe global developmental delay, short stature, microcephaly, and craniofacial anomalies. Furthermore, we expand the knowledge about disease causing mutations and the genotype-phenotype relationships in ASXL3 and provide evidence that rare, nonsynonymous, damaging mutations are not associated with developmental delay or microcephaly

    Florida\u27s Mystery Coral-Killer Identified

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    An unusual coral disease appeared on the Florida Reef Tract in June 1995. It was distinct in its microbiology, its pattern of tissue degradation, the species susceptible to it, and its regional distribution. Symptoms included a sharp line between healthy and diseased tissue, as occurs with other coral diseases, but the pathogen responsible for the new outbreak seemed more virulent, affected a wider variety of species, and destroyed tissue much more rapidly than these other \u27line\u27 or \u27band\u27 diseases. We have identified the pathogen responsible for this new disease as a new species of Sphingomonas
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