2,565 research outputs found
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
No full textNiemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by progressive neurological deterioration. However, data on the progression of neurological manifestations, particularly across different patient age-of-disease onsets, are limited. This is an observational retrospective cohort study designed to assess the progression of neurological disease in patients with NP-C. Physicians were asked to retrospectively complete a web-based questionnaire for each patient, at diagnosis and at up to three follow-up visits. An NP-C-specific disability scale was used to measure disease progression. The scale comprised four key parameters of neurological disease progression; ambulation, manipulation, language and swallowing. Disease progression was evaluated based on the annual rate of change in each parameter and the composite score using a linear mixed model analysis, and by classifying patients according to the number of worsened parameters during the observation period. Data were collected from 57 patients. The rate of deterioration was similar across the four individual parameters of the disability scale. The mean (95% CI) annual disease progression was +0.12 (0.09, 0.15) units. Among patients with a time interval of at least 1 year between diagnosis and last visit (n=49), 42 (86%) patients had progressed disease and 7 (14%) patients had stable disease. Disease progression was consistently more rapid in patients diagnosed in early childhood, compared with those diagnosed in late childhood, or with juvenile or adult presentation. In conclusion, our findings showed a progression in all four parameters of the disability scale, representing a continuous, unbroken progression of neurological manifestations
Enzyme replacement therapy for the management of the mucopolysaccharidoses
No full textEnzyme replacement therapy (ERT) is now available for several of the mucopolysaccharidosis disorders. This brief review summarizes the role of ERT in reducing the burden of peripheral disease in many patients with mucopolysaccharidosis disorders, and describes the challenges that remain in treating the neurological manifestations of these conditions. ©2009 Dustri-Verlag Dr. K. Feistle
Recommended from our members
Preliminary Geologic Map of the North Half of the Union Pass Quadrangle, Mohave County, Arizona
No full textPreliminary Geologic Map of the North Half of the Union Pass Quadrangle, Mohave County, Arizona. Includes one map sheet with cross section at 1:24,000 map scale.On 1/17/2014, F.L. Hillemeyer's name was removed from the author list per his request. (The request was forwarded to AZGS by J.E. Faulds.)Documents in the AZGS Document Repository collection are made available by the Arizona Geological Survey (AZGS) and the University Libraries at the University of Arizona. For more information about items in this collection, please contact [email protected]
Building and Defining Behavioral Economics
No full textContains fulltext :
95156.pdf (Publisher’s version ) (Closed access)George Loewenstein, a prominent behavioral economist, recalls thatIn 1994, when Thaler, Camerer, Rabin, Prelec and I spent the year at the Center for Advanced Study in the Behavioral Sciences, we had a meeting to make a kind of final decision about what to call what we were doing. Remarkably, at that time, the name behavioral economics was not yet well established. I actually advocated “psychological economics,” and Thaler was strong on behavioral economics. I'm kind of glad that he prevailed; I think it's a better, catchier, label, although it creates confusion due to association with Behaviorism. (G. Loewenstein, personal email to author, June 16, 2008
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study
No full textMiglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report findings from a retrospective observational cohort study assessing the effects of miglustat on neurological disease progression in patients treated in the clinical practice setting. Data from all NP-C patients prescribed miglustat at 25 expert centers were evaluated using a disease disability scale. The scale analyzed four key parameters of neurological disease progression in NP-C (ambulation, manipulation, language, swallowing). Mean individual parameter scores and a composite score were calculated at baseline (time of diagnosis) and up to 4 follow-up visits. Overall, 66 patients were included (mean [SD] age at diagnosis, 9.7 [7.6] years, and at treatment start, 12.8 [9.5] years). The median (range) miglustat exposure was 1.46 (0.05-4.51) years. Mean annual progression was +0.11 score units/year from diagnosis to treatment start, indicating disease progression prior to therapy, and decreasing to -0.01 score units/year from treatment start to last clinic visit, indicating stabilization. Stabilization of neurological disease on miglustat was observed in all age groups, but the magnitude of the effect was greater in patients diagnosed in late childhood and in juveniles and adults. Stabilization of neurological disease was also observed in a subset of 19 patients with extended pre-treatment information. Overall, these data support previous clinical trial findings indicating clinically relevant beneficial effects of miglustat on neurological disease progression in patients with NP-C
The IPHAS catalogue of H alpha emission-line sources in the northern Galactic plane
Get PDFWe present a catalogue of point-source H alpha emission-line objects selected from the INT/WFC Photometric Ha Survey (IPHAS) of the northern Galactic plane. The catalogue covers the magnitude range 13 <= r' <= 19.5 and includes Northern hemisphere sources in the Galactic latitude range -5 degrees < b < 5 degrees. It is derived from similar to 1500 deg(2) worth of imaging data, which represents 80 per cent of the final IPHAS survey area. The electronic version of the catalogue will be updated once the full survey data become available. In total, the present catalogue contains 4853 point sources that exhibit strong photometric evidence for Ha emission. We have so far analysed spectra for similar to 300 of these sources, confirming more than 95 per cent of them as genuine emission-line stars. A wide range of stellar populations are represented in the catalogue, including early-type emission-line stars, active late-type stars, interacting binaries, young stellar objects and compact nebulae.
The spatial distribution of catalogue objects shows overdensities near sites of recent or current star formation, as well as possible evidence for the warp of the Galactic plane. Photometrically, the incidence of Ha emission is bimodally distributed in (r' - i'). The blue peak is made up mostly of early-type emission-line stars, whereas the red peak may signal an increasing contribution from other objects, such as young/active low-mass stars. We have cross-matched our H alpha-excess catalogue against the emission-line star catalogue of Kohoutek & Wehmeyer, as well as against sources in SIMBAD. We find that fewer than 10 per cent of our sources can be matched to known objects of any type. Thus IPHAS is uncovering an order of magnitude more faint (r' > 13) emission-line objects than were previously known in the Milky Way
Testing protoplanetary disc dispersal with radio emission
No full textWe consider continuum free–free radio emission from the upper atmosphere of protoplanetary discs as a probe of the ionized luminosity impinging upon the disc. Making use of previously computed hydrodynamic models of disc photoevaporation within the framework of extreme-ultraviolet (EUV) and X-ray irradiation, we use radiative transfer post-processing techniques to predict the expected free–free emission from protoplanetary discs. In general, the free–free luminosity scales roughly linearly with ionizing luminosity in both EUV- and X-ray-driven scenarios, where the emission dominates over the dust tail of the disc and is partial optically thin at cm wavelengths. We perform a test observation of GM Aur at 14–18?GHz and detect an excess of radio emission above the dust tail to a very high level of confidence. The observed flux density and spectral index are consistent with free–free emission from the ionized disc in either the EUV- or the X-ray-driven scenario. Finally, we suggest a possible route to testing the EUV- and X-ray-driven dispersal model of protoplanetary discs, by combining observed free–free flux densities with measurements of mass-accretion rates. On the point of disc dispersal one would expect to find an M?2? scaling with free–free flux in the case of EUV-driven disc dispersal or an ?* scaling in the case of X-ray-driven disc dispersa
- …
