3,989 research outputs found
An exploration of social justice intent in photovoice research studies from 2008 to 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108344/1/nin12064.pd
Organization of GC/MS and LC/MS metabolomics data into chemical libraries
<p>Abstract</p> <p>Background</p> <p>Metabolomics experiments involve generating and comparing small molecule (metabolite) profiles from complex mixture samples to identify those metabolites that are modulated in altered states (e.g., disease, drug treatment, toxin exposure). One non-targeted metabolomics approach attempts to identify and interrogate all small molecules in a sample using GC or LC separation followed by MS or MS<sup>n </sup>detection. Analysis of the resulting large, multifaceted data sets to rapidly and accurately identify the metabolites is a challenging task that relies on the availability of chemical libraries of metabolite spectral signatures. A method for analyzing spectrometry data to identify and <b>Qu</b>antify <b>I</b>ndividual <b>C</b>omponents in a <b>S</b>ample, (QUICS), enables generation of chemical library entries from known standards and, importantly, from unknown metabolites present in experimental samples but without a corresponding library entry. This method accounts for all ions in a sample spectrum, performs library matches, and allows review of the data to quality check library entries. The QUICS method identifies ions related to any given metabolite by correlating ion data across the complete set of experimental samples, thus revealing subtle spectral trends that may not be evident when viewing individual samples and are likely to be indicative of the presence of one or more otherwise obscured metabolites.</p> <p>Results</p> <p>LC-MS/MS or GC-MS data from 33 liver samples were analyzed simultaneously which exploited the inherent biological diversity of the samples and the largely non-covariant chemical nature of the metabolites when viewed over multiple samples. Ions were partitioned by both retention time (RT) and covariance which grouped ions from a single common underlying metabolite. This approach benefitted from using mass, time and intensity data in aggregate over the entire sample set to reject outliers and noise thereby producing higher quality chemical identities. The aggregated data was matched to reference chemical libraries to aid in identifying the ion set as a known metabolite or as a new unknown biochemical to be added to the library.</p> <p>Conclusion</p> <p>The QUICS methodology enabled rapid, in-depth evaluation of all possible metabolites (known and unknown) within a set of samples to identify the metabolites and, for those that did not have an entry in the reference library, to create a library entry to identify that metabolite in future studies.</p
Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.
BackgroundCongenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic. Causative mutations have been identified in 4 breeds including the Labrador Retriever, Jack Russell Terrier, Heideterrier, and Danish Pointing Dog.Hypothesis/objectiveClinical and genetic characterization of a neuromuscular disorder in Golden Retriever (GR) puppies.AnimalsFour GR puppies from California were evaluated for generalized muscle weakness beginning at weaning. Biological specimens were collected from the affected puppies, and familial information was obtained. Blood or buccal swabs were obtained from 63 unaffected GRs.MethodsComplete physical, neurological, electrodiagnostic, and histological evaluations and biochemical quantification of muscle acetylcholine receptors were performed. Polymerase chain reaction was used to amplify the 17 exons of COLQ, and sequences were obtained by Sanger sequencing. Variant frequency was assessed in unrelated GRs and a public database.ResultsClinical, neurological, and electrodiagnostic evaluations confirmed a disorder of neuromuscular transmission in a GR family. Sequencing of all exons and splice sites of a primary candidate gene, COLQ, identified a point mutation that predicts an amino acid substitution (G294R). The primary COLQ transcript was absent from affected muscle samples. All affected puppies were homozygous for the mutation, which was not detected outside this GR family or in other breeds.Conclusions and clinical importanceWe confirmed the diagnosis of a CMS in GR puppies and identified a novel COLQ mutation. The COLQ gene encodes the collagenous tail of acetylcholinesterase, the enzyme responsible for termination of skeletal muscle contraction by clearing acetylcholine at the neuromuscular junction. Clinicians and breeders should be aware of this CMS in GR puppies with an early onset of weakness
High Mass Triple Systems: The Classical Cepheid Y Car
We have obtained an HST STIS ultraviolet high dispersion Echelle mode
spectrum the binary companion of the double mode classical Cepheid Y Car. The
velocity measured for the hot companion from this spectrum is very different
from reasonable predictions for binary motion, implying that the companion is
itself a short period binary. The measured velocity changed by 7 km/ s during
the 4 days between two segments of the observation confirming this
interpretation. We summarize "binary" Cepheids which are in fact members of
triple system and find at least 44% are triples. The summary of information on
Cepheids with orbits makes it likely that the fraction is under-estimated.Comment: accepted by A
Probing the mass function of halo dark matter via microlensing
The simplest interpretation of the microlensing events observed towards the
Large Magellanic Clouds is that approximately half of the mass of the Milky Way
halo is in the form of MAssive Compact Halo Objects with . It is not possible, due to limits from star counts and chemical
abundance arguments, for faint stars or white dwarves to comprise such a large
fraction of the halo mass. This leads to the consideration of more exotic lens
candidates, such as primordial black holes, or alternative lens locations. If
the lenses are located in the halo of the Milky Way, then constraining their
mass function will shed light on their nature. Using the current microlensing
data we find, for four halo models, the best fit parameters for delta-function,
primordial black hole and various power law mass functions. The best fit
primordial black hole mass functions, despite having significant finite width,
have likelihoods which are similar to, and for one particular halo model
greater than, those of the best fit delta functions . We then use Monte Carlo
simulations to investigate the number of microlensing events necessary to
determine whether the MACHO mass function has significant finite width. If the
correct halo model is known, then 500 microlensing events will be
sufficient, and will also allow determination of the mass function parameters
to .Comment: 28 pages including 14 figures, version to appear in ApJ, minor
changes to discussio
Detecting the âgistâ of breast cancer in mammograms three years before localized signs of cancer are visible
Objectives: After a 500 ms presentation, experts can distinguish abnormal mammograms at above chance levels even when only the breast contralateral to the lesion is shown. Here, we show that this signal of abnormality is detectable 3 years before localized signs of cancer become visible. Methods: In 4 prospective studies, 59 expert observers from 3 groups viewed 116â200 bilateral mammograms for 500 ms each. Half of the images were prior exams acquired 3 years prior to onset of visible, actionable cancer and half were normal. Exp. 1D included cases having visible abnormalities. Observers rated likelihood of abnormality on a 0â100 scale and categorized breast density. Performance was measured using receiver operating characteristic analysis. Results: In all three groups, observers could detect abnormal images at above chance levels 3 years prior to visible signs of breast cancer (p < 0.001). The results were not due to specific salient cases nor to breast density. Performance was correlated with expertise quantified by the number of mammographic cases read within a year. In Exp. 1D, with cases having visible actionable pathology included, the full group of readers failed to reliably detect abnormal priors; with the exception of a subgroup of the six most experienced observers. Conclusions: Imaging specialists can detect signals of abnormality in mammograms acquired years before lesions become visible. Detection may depend on expertise acquired by reading large numbers of cases. Advances in knowledge: Global gist signal can serve as imaging risk factor with the potential to identify patients with elevated risk for developing cancer, resulting in improved early cancer diagnosis rates and improved prognosis for females with breast cancer
A half-second glimpse often lets radiologists identify breast cancer cases even when viewing the mammogram of the opposite breast
Humans are very adept at extracting the âgistâ of a scene in a fraction of a second. We have found that radiologists can discriminate normal from abnormal mammograms at above-chance levels after a half-second viewing (dâČââŒâ1) but are at chance in localizing the abnormality. This pattern of results suggests that they are detecting a global signal of abnormality. What are the stimulus properties that might support this ability? We investigated the nature of the gist signal in four experiments by asking radiologists to make detection and localization responses about briefly presented mammograms in which the spatial frequency, symmetry, and/or size of the images was manipulated. We show that the signal is stronger in the higher spatial frequencies. Performance does not depend on detection of breaks in the normal symmetry of left and right breasts. Moreover, above-chance classification is possible using images from the normal breast of a patient with overt signs of cancer only in the other breast. Some signal is present in the portions of the parenchyma (breast tissue) that do not contain a lesion or that are in the contralateral breast. This signal does not appear to be a simple assessment of breast density but rather the detection of the abnormal gist may be based on a widely distributed image statistic, learned by experts. The finding that a global signal, related to disease, can be detected in parenchyma that does not contain a lesion has implications for improving breast cancer detection
Problematic, absent and stigmatizing diagnoses in current mental disorders classifications: Results from the WHO-WPA and WHO-IUPsyS Global Surveys
This study examined English- and Spanish-speaking psychologists' and psychiatrists' opinions regarding problematic, absent and stigmatizing diagnoses in current mental disorders classifications (ICD-10 and DSM-IV), and their perceived need for a national classification of mental disorders. Answers to open-ended questions included in WHO-WPA and WHO-IUPsyS surveys were examined using an inductive content-analysis method. A total of 3,222 participants from 35 countries were included. The most problematic diagnostic group was personality disorders, especially among psychiatrists, because of poor validity and lack of specificity. Complex posttraumatic stress disorder was the most frequent diagnosis suggested for inclusion, mainly by psychologists, to better account for the distinct processes and consequences of complex trauma. Schizophrenia was the diagnosis most frequently identified as stigmatizing, particularly by psychiatrists, due to lack of public understanding or knowledge about the diagnosis. Of the 14.4% of participants who perceived a need for a national classification system, two-thirds were from Africa or Latin America. The rationales provided were that mental disorders classifications should consider cultural and socio-historical diversity in the expression of psychopathology, differences in the perception of what is and is not pathological in different nations, and the existence of culture-bound syndromes. Implications for ICD-11 development and dissemination are discussed. © 2014 AsociaciĂłn Española de PsicologĂa Conductual
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