140 research outputs found
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene. In this study we characterized the hearing dysfunction in OPA1-linked disorders and provided effective rehabilitative options to improve speech perception.
We studied two groups of OPA1 subjects, one comprising 11 patients (7 males; age range 13-79 years) carrying OPA1 mutations inducing haploinsufficiency, the other, 10 subjects (3 males; age range 5-58 years) carrying OPA1 missense mutations. Both groups underwent audiometric assessment with pure tone and speech perception evaluation, and otoacoustic emissions and auditory brainstem response recording. Cochlear potentials were recorded through transtympanic electrocochleography from the group of patients harboring OPA1 missense mutations and were compared to recordings obtained from 20 normally-hearing controls and from 19 subjects with cochlear hearing loss. Eight patients carrying OPA1 missense mutations underwent cochlear implantation. Speech perception measures and electrically-evoked auditory nerve and brainstem responses were obtained after one year of cochlear implant use.
Nine out of 11 patients carrying OPA1 mutations inducing haploinsufficiency had normal hearing function. In contrast, all but one subject harboring OPA1 missense mutations displayed impaired speech perception, abnormal brainstem responses and presence of otoacoustic emissions consistent with auditory neuropathy. In electrocochleography recordings, cochlear microphonic had enhanced amplitudes while summating potential showed normal latency and peak amplitude consistent with preservation of both outer and inner hair cell activities. After cancelling the cochlear microphonic, the synchronized neural response seen in both normally-hearing controls and subjects with cochlear hearing loss was replaced by a prolonged, low-amplitude negative potential that decreased in both amplitude and duration during rapid stimulation consistent with neural generation. The use of cochlear implant improved speech perception in all but one patient. Brainstem potentials were recorded in response to electrical stimulation in five subjects out of six, whereas no compound action potential was evoked from the auditory nerve through the cochlear implant.
These findings indicate that underlying the hearing impairment in patients carrying OPA1 missense mutations is a disordered synchrony in auditory nerve fiber activity resulting from neural degeneration affecting the terminal dendrites. Cochlear implantation improves speech perception and synchronous activation of auditory pathways by by-passing the site of lesion
Wiring knowledge domains. Metaphors and knowledge combination in a multi-disciplinary field
In the process of combining distant domains of knowledge, metaphors play a privileged role in constructing a shared understanding and in coordinating multiple actors with different background, language and practices. Yet they are still relatively under-investigated, in particular their dynamic interplay with individual cognition and action along the knowledge creation process. Through the case study of a neuroscience research project over a eight-year period, we reconstruct the role that metaphors play in defining conceptually the object of research, interfacing and coordinating different bodies of knowledge, and informing actual practices of laboratory experimentation and technology development. We show how metaphors develop and change over the different phases of the project, responding to the new puzzles they contribute to create and to the changing composition of the network of actors involved. We offer some insight on the emergence of such metaphors and their dynamics in processes of knowledge combination
X-band dual-polarization radar-based hydrometeor classification for Brazilian tropical precipitation systems
The dominant hydrometeor types associated with Brazilian tropical
precipitation systems are identified via research X-band dual-polarization
radar deployed in the vicinity of the Manaus region (Amazonas) during both
the GoAmazon2014/5 and ACRIDICON-CHUVA field experiments. The present study
is based on an agglomerative hierarchical clustering (AHC) approach that
makes use of dual polarimetric radar observables (reflectivity at horizontal
polarization ZH, differential reflectivity ZDR, specific
differential-phase KDP, and correlation coefficient ρHV) and
temperature data inferred from sounding balloons. The sensitivity of the
agglomerative clustering scheme for measuring the intercluster
dissimilarities (linkage criterion) is evaluated through the wet-season
dataset. Both the weighted and Ward linkages exhibit better abilities to
retrieve cloud microphysical species, whereas clustering outputs associated
with the centroid linkage are poorly defined. The AHC method is then applied
to investigate the microphysical structure of both the wet and dry seasons.
The stratiform regions are composed of five hydrometeor classes: drizzle,
rain, wet snow, aggregates, and ice crystals, whereas convective echoes are
generally associated with light rain, moderate rain, heavy rain, graupel,
aggregates, and ice crystals. The main discrepancy between the wet and dry
seasons is the presence of both low- and high-density graupel within
convective regions, whereas the rainy period exhibits only one type of
graupel. Finally, aggregate and ice crystal hydrometeors in the tropics are
found to exhibit higher polarimetric values compared to those at
midlatitudes.</p
Genomics of Klebsiella pneumoniae ST16 producing NDM-1, CTX-M-15, and OXA-232
OBJECTIVES:
Genomic characterization of the internationally spread sequence type (ST) 16 carbapenem-resistant Klebsiella pneumoniae.
METHODS:
The complete genomes of three carbapenem producing ST16 K. pneumoniae from Italian patients were analysed by single-nucleotide polymorphism-based phylogeny, core genome multilocus sequence typing, resistance, plasmid, and virulence content and compared with ten genomes of ST16 strains isolated in other countries. Plasmids carrying blaNDM-1 or blaOXA-232 carbapenemase genes were assembled and sequences were analysed.
RESULTS:
The internationally spread ST16 K. pneumoniae clone showed variability in terms of distribution of NDM-1 and OXA-232 type carbapenemases. In some ST16 strains, up to six plasmids can be simultaneously present in the same cell, including ColE-like plasmids carrying blaOXA-232 and IncF plasmids carrying blaNDM-1. The differences observed in plasmid, resistance, and virulence content and core genome suggested that there is not a unique, highly conserved ST16 clone, but instead different variants of this lineage circulate worldwide.
CONCLUSIONS:
The ST16 K. pneumoniae clone has spread worldwide and may become a high-risk clone
Interactions Between the Amazonian Rainforest and Cumuli Clouds: A Large‐Eddy Simulation, High‐Resolution ECMWF, and Observational Intercomparison Study
The explicit coupling at meter and second scales of vegetation's responses to the atmospheric‐boundary layer dynamics drives a dynamic heterogeneity that influences canopy‐top fluxes and cloud formation. Focusing on a representative day during the Amazonian dry season, we investigate the diurnal cycle of energy, moisture and carbon dioxide at the canopy top, and the transition from clear to cloudy conditions. To this end, we compare results from a large‐eddy simulation technique, a high‐resolution global weather model, and a complete observational data set collected during the GoAmazon14/15 campaign. The overall model‐observation comparisons of radiation and canopy‐top fluxes, turbulence, and cloud dynamics are very satisfactory, with all the modeled variables lying within the standard deviation of the monthly aggregated observations. Our analysis indicates that the timing of the change in the daylight carbon exchange, from a sink to a source, remains uncertain and is probably related to the stomata closure caused by the increase in vapor pressure deficit during the afternoon. We demonstrate quantitatively that heat and moisture transport from the subcloud layer into the cloud layer are misrepresented by the global model, yielding low values of specific humidity and thermal instability above the cloud base. Finally, the numerical simulations and observational data are adequate settings for benchmarking more comprehensive studies of plant responses, microphysics, and radiation
Polarimetric X-band weather radar measurements in the tropics: radome and rain attenuation correction
A polarimetric X-band radar has been deployed during one month (April 2011) for a field campaign in Fortaleza, Brazil, together with three additional laser disdrometers. The disdrometers are capable of measuring the raindrop size distributions (DSDs), hence making it possible to forward-model theoretical polarimetric X-band radar observables at the point where the instruments are located. This setup allows to thoroughly test the accuracy of the X-band radar measurements as well as the algorithms that are used to correct the radar data for radome and rain attenuation. For the campaign in Fortaleza it was found that radome attenuation dominantly affects the measurements. With an algorithm that is based on the self-consistency of the polarimetric observables, the radome induced reflectivity offset was estimated. Offset corrected measurements were then further corrected for rain attenuation with two different schemes. The performance of the post-processing steps was analyzed by comparing the data with disdrometer-inferred polarimetric variables that were measured at a distance of 20 km from the radar. Radome attenuation reached values up to 14 dB which was found to be consistent with an empirical radome attenuation vs. rain intensity relation that was previously developed for the same radar type. In contrast to previous work, our results suggest that radome attenuation should be estimated individually for every view direction of the radar in order to obtain homogenous reflectivity fields.FAPESP [2009/15235-8
THE GREEN OCEAN AMAZON EXPERIMENT (GOAMAZON2014/5) OBSERVES POLLUTION AFFECTING GASES, AEROSOLS, CLOUDS, AND RAINFALL OVER THE RAIN FOREST
The susceptibility of air quality, weather, terrestrial ecosystems, and climate to human activities was investigated in a tropical environment.Peer reviewe
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