185 research outputs found
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus
callosum (TCC) is a common and clinically distinct form of familial spastic
paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected
families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval
and identified ten mutations in a previously unidentified gene expressed
ubiquitously in the nervous system but most prominently in the cerebellum,
cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense
or insertions and deletions leading to a frameshift, suggesting a
loss-of-function mechanism. The identification of the function of the gene will
provide insight into the mechanisms leading to the degeneration of the
corticospinal tract and other brain structures in this frequent form of ARHSP
Lake Erie hypoxia prompts CanadaâU.S. study
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/95631/1/eost15589.pd
Persistent left superior vena cava: a case report and review of literature
Persistent left superior vena cava is rare but important congenital vascular anomaly. It results when the left superior cardinal vein caudal to the innominate vein fails to regress. It is most commonly observed in isolation but can be associated with other cardiovascular abnormalities including atrial septal defect, bicuspid aortic valve, coarctation of aorta, coronary sinus ostial atresia, and cor triatriatum. The presence of PLSVC can render access to the right side of heart challenging via the left subclavian approach, which is a common site of access utilized when placing pacemakers and Swan-Ganz catheters. Incidental notation of a dilated coronary sinus on echocardiography should raise the suspicion of PLSVC. The diagnosis should be confirmed by saline contrast echocardiography
Bio-optical Properties of Cyanobacteria Blooms in Western Lake Erie
There is a growing use of remote sensing observations for detecting and quantifying freshwater cyanobacteria populations, yet the inherent optical properties of these communities in natural settings, fundamental to bio-optical algorithms, are not well known. Toward bridging this knowledge gap, we measured a full complement of optical properties in western Lake Erie during cyanobacteria blooms in the summers of 2013 and 2014. Our measurements focus attention on the optical uniqueness of cyanobacteria blooms, which have consequences for remote sensing and bio-optical modeling. We found the cyanobacteria blooms in the western basin during our field work were dominated by Microcystis, while the waters in the adjacent central basin were dominated by Planktothrix. Chlorophyll concentrations ranged from 1 to over 135 ÎŒg/L across the study area with the highest concentrations associated with Microcystis in the western basin. We observed large, amorphous colonial Microcystis structures in the bloom area characterized by high phytoplankton absorption and high scattering coefficients with a mean particle backscatter ratio at 443 nm \u3e 0.03, which is higher than other plankton types and more comparable to suspended inorganic sediments. While our samples contained mixtures of both, our analysis suggests high contributions to the measured scatter and backscatter coefficients from cyanobacteria. Our measurements provide new insights into the optical properties of cyanobacteria blooms, and indicate that current semi-analytic models are likely to have problems resolving a closed solution in these types of waters as many of our observations are beyond the range of existing model components. We believe that different algorithm or model approaches are needed for these conditions, specifically for phytoplankton absorption and particle backscatter components. From a remote sensing perspective, this presents a challenge not only in terms of a need for new algorithms, but also for determining when to apply the best algorithm for a given situation. These results are new in the sense that they represent a complete description of the optical properties of freshwater cyanobacteria blooms, and are likely to be representative of bloom conditions for other systems containing Microcystis cells and colonies
Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis
Cardiomyopathy is a manifestation of transthyretin amyloidosis (ATTR), which is an underrecognized systemic disease whereby the transthyretin protein misfolds to form fibrils that deposit in various tissues and organs. ATTR amyloidosis is debilitating and associated with poor life expectancy, especially in those with cardiac dysfunction, but a variety of treatment options have recently become available. Considered a rare disease, ATTR amyloidosis may be more prevalent than thought, particularly in older persons. Diagnosis is often delayed because of a lack of disease awareness and the heterogeneity of symptoms at presentation. Given the recent availability of effective treatments, early recognition and diagnosis are especially critical because treatment is likely more effective earlier in the disease course. The Amyloidosis Research Consortium recently convened a group of experts in ATTR amyloidosis who, through an iterative process, agreed on best practices for suspicion, diagnosis, and characterization of disease. This review describes these consensus recommendations for ATTR associated with cardiomyopathy as a resource to aid cardiologists and others in the recognition and diagnosis of ATTR associated with cardiomyopathy. Included in this review is an overview of red flag signs and symptoms and a recommended diagnostic approach, including testing for monoclonal protein, scintigraphy, or biopsy and, if ATTR associated with cardiomyopathy is identified, TTR genotyping
Quality of spirometry and related diagnosis in primary care with a focus on clinical use
Contains fulltext :
220998.pdf (publisher's version ) (Open Access
Anatomy of the recurrent coastal sediment plume in Lake Michigan and its impacts on light climate, nutrients, and plankton
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/94624/1/jgrc9664.pd
Advancing cyanobacteria biomass estimation from hyperspectral observations: Demonstrations with HICO and PRISMA imagery
Retrieval of the phycocyanin concentration (PC), a characteristic pigment of, and proxy for, cyanobacteria
biomass, from hyperspectral satellite remote sensing measurements is challenging due to uncertainties in the
remote sensing reflectance (âRrs) resulting from atmospheric correction and instrument radiometric noise.
Although several individual algorithms have been proven to capture local variations in cyanobacteria biomass in
specific regions, their performance has not been assessed on hyperspectral images from satellite sensors. Our work leverages a machine-learning model, Mixture Density Networks (MDNs), trained on a large (N = 939) dataset of collocated in situ chlorophyll-a concentrations (Chla), PCs, and remote sensing reflectance (Rrs) measurements to estimate PC from all relevant spectral bands. The performance of the developed model is demonstrated via PC maps produced from select images of the Hyperspectral Imager for the Coastal Ocean (HICO) and Italian Space Agencyâs PRecursore IperSpettrale della Missione Applicativa (PRISMA) using a matchup dataset. As input to the MDN, we incorporate a combination of widely used band ratios (BRs) and line heights (LHs) taken from existing multispectral algorithms, that have been proven for both Chla and PC estiïżœmation, as well as novel BRs and LHs to increase the overall cyanobacteria biomass estimation accuracy and reduce the sensitivity to âRrs. When trained on a random half of the dataset, the MDN achieves uncertainties of 44.3%, which is less than half of the uncertainties of all viable optimized multispectral PC algorithms. The MDN is notably better than multispectral algorithms at preventing overestimation on low (10 mg mâ 3).
According to our extensive assessments, the developed model is anticipated to enable practical PC products from
PRISMA and HICO, therefore the model is promising for planned hyperspectral missions, such as the Plankton
Aerosol and Cloud Ecosystem (PACE). This advancement will enhance the complementary roles of hyperspectral radiometry from satellite and low-altitude platforms for quantifying and monitoring cyanobacteria harmful algal
blooms at both large and local spatial scales
ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: Part 2 of 2âDiagnostic criteria and appropriate utilization
Cardiac amyloidosis is emerging as an underdiagnosed cause of heart failure and mortality. Growing literature suggests that a noninvasive diagnosis of cardiac amyloidosis is now feasible. However, the diagnostic criteria and utilization of imaging in cardiac amyloidosis are not standardized. In this paper, Part 2 of a series, a panel of international experts from multiple societies define the diagnostic criteria for cardiac amyloidosis and appropriate utilization of echocardiography, cardiovascular magnetic resonance imaging, and radionuclide imaging in the evaluation of patients with known or suspected cardiac amyloidosis
Beneath a Steel Sky: A Musical Characterisation of Class Structure
This article proposes Revolution Softwareâs Beneath a Steel Sky (1994) as a starting point for the analysis of the relationship between music and social class in video games. While other issues of representation have been studied extensively within game studies (gender representation in particular), the representation of class remains an underexplored area. Furthermore, the relationship between video game music and socio-cultural aspects of video game studies is also rarely examined beyond issues of race, ethnicity, and cultural appropriation. This article draws connections between these two underexplored areas and analyses the musical characterisation of class in the 1994 cyberpunk adventure game, which takes places largely in a literally stratified metropolis where the three levels of the city act as representations of the three social classes. Here, music plays an important role in terms of environmental storytelling, both as semiotic shorthand, and as a reflection of the affordances available to the inhabitants of the city
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