2,096 research outputs found
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Abstract
Objectives
Fabry disease (FD) is an X-linked lysosomal storage disorder, resulting from a deficiency of the enzyme α-galactosidase A, responsible for breaking down glycolipids such as globotriaosylceramide and its deacylated derivative, globotriaosylsphingosine (LysoGb3). Here, we compare the levels of LysoGb3 in dried blood spots (DBS) and plasma in patients with classic and late-onset phenotypes.
Methods
LysoGb3 measurements were performed in 104 FD patients, 39 males and 65 females. Venous blood was collected. A portion was spotted onto filter paper and another portion separated to obtain plasma. The LysoGb3 concentrations in DBS and plasma were determined by highly sensitive electrospray ionization liquid chromatography tandem mass spectrometry. Agreement between different matrices was assessed using linear regression and Bland Altman analysis.
Results
The method on DBS was validated by evaluating its precision, accuracy, matrix effect, recovery, and stability. The analytical performances were verified by comparison of a total of 104 paired DBS and plasma samples from as many FD patients (representing 46 GLA variants). There was a strong correlation between plasma and the corresponding DBS LysoGb3 concentrations, with few exceptions. Discrepancies were observed in anemic patients with typically low hematocrit levels compared to the normal range.
Conclusions
The method proved to be efficient for the rapid analysis of LysoGb3. DBS provides a convenient, sensitive, and reproducible method for measuring LysoGb3 levels for diagnosis, initial phenotypic assignment, and therapeutic monitoring in patients with FD
Clinical and Organizational Factors Related to the Reduction of Mechanical Restraint Application in an Acute Ward: An 8-Year Retrospective Analysis
Background:
The purpose of this study was to describe the frequency of mechanical restraint use in an acute psychiatric ward and to analyze which variables may have significantly influenced the use of this procedure. Methods: This retrospective study was conducted in the Servizio Psichiatrico di Diagnosi e Cura (SPDC) of Modena Centro. The following variables of our sample, represented by all restrained patients admitted from 1-1-2005 to 31-12-2012, were analyzed: age, gender, nationality, psychiatric diagnoses, organic comorbidity, state and duration of admission, motivation and duration of restraints, nursing shift and hospitalization day of restraint, number of patients admitted at the time of restraint and institutional changes during the observation period. The above variables were statistically compared with those of all other non-restrained patients admitted to our ward in the same period. Results: Mechanical restraints were primarily used as a safety procedure to manage aggressive behavior of male patients, during the first days of hospitalization and night shifts. Neurocognitive disorders, organic comorbidity, compulsory state and long duration of admission were statistically significantly related to the increase of restraint use (p<.001, multivariate logistic regression). Institutional changes, especially more restricted guidelines concerning restraint application, were statistically significantly related to restraint use reduction (p<.001, chi2 test, multivariate logistic regression). Conclusion: The data obtained highlight that mechanical restraint use was influenced not only by clinical factors, but mainly by staff and policy factors, which have permitted a gradual but significant reduction in the use of this procedure through a multidimensional approach
Super-heavy fermion material as metallic refrigerant for adiabatic demagnetization cooling
Low-temperature refrigeration is of crucial importance in fundamental
research of condensed matter physics, as the investigations of fascinating
quantum phenomena, such as superconductivity, superfluidity and quantum
criticality, often require refrigeration down to very low temperatures.
Currently, cryogenic refrigerators with He gas are widely used for cooling
below 1 Kelvin. However, usage of the gas is being increasingly difficult due
to the current world-wide shortage. Therefore, it is important to consider
alternative methods of refrigeration. Here, we show that a new type of
refrigerant, super-heavy electron metal, YbCoZn, can be used for
adiabatic demagnetization refrigeration, which does not require 3He gas. A
number of advantages includes much better metallic thermal conductivity
compared to the conventional insulating refrigerants. We also demonstrate that
the cooling performance is optimized in YbScCoZn by
partial Sc substitution with 0.19. The substitution induces chemical
pressure which drives the materials close to a zero-field quantum critical
point. This leads to an additional enhancement of the magnetocaloric effect in
low fields and low temperatures enabling final temperatures well below 100 mK.
Such performance has up to now been restricted to insulators. Since nearly a
century the same principle of using local magnetic moments has been applied for
adiabatic demagnetization cooling. This study opens new possibilities of using
itinerant magnetic moments for the cryogen-free refrigeration
Early diagnosis is associated with improved clinical outcomes in benign esophageal perforation: an individual patient data metaâanalysis
Background
Time of diagnosis (TOD) of benign esophageal perforation is regarded as an important risk factor for clinical outcome, although convincing evidence is lacking. The aim of this study is to assess whether time between onset of perforation and diagnosis is associated with clinical outcome in patients with iatrogenic esophageal perforation (IEP) and Boerhaaveâs syndrome (BS).
Methods
We searched MEDLINE, Embase and Cochrane library through June 2018 to identify studies. Authors were invited to share individual patient data and a meta-analysis was performed (PROSPERO: CRD42018093473). Patients were subdivided in early (â€â24 h) and late (>â24 h) TOD and compared with mixed effects multivariable analysis while adjusting age, gender, location of perforation, initial treatment and center. Primary outcome was overall mortality. Secondary outcomes were length of hospital stay, re-interventions and ICU admission.
Results
Our meta-analysis included IPD of 25 studies including 576 patients with IEP and 384 with BS. In IEP, early TOD was not associated with overall mortality (8% vs. 13%, OR 2.1, 95% CI 0.8â5.1), but was associated with a 23% decrease in ICU admissions (46% vs. 69%, OR 3.0, 95% CI 1.2â7.2), a 22% decrease in re-interventions (23% vs. 45%, OR 2.8, 95% CI 1.2â6.7) and a 36% decrease in length of hospital stay (14 vs. 22 days, pâ<â0.001), compared with late TOD. In BS, no associations between TOD and outcomes were found. When combining IEP and BS, early TOD was associated with a 6% decrease in overall mortality (10% vs. 16%, OR 2.1, 95% CI 1.1â3.9), a 19% decrease in re-interventions (26% vs. 45%, OR 1.9, 95% CI 1.1â3.2) and a 35% decrease in mean length of hospital stay (16 vs. 22 days, pâ=â0.001), compared with late TOD.
Conclusions
This individual patient data meta-analysis confirms the general opinion that an early (â€â24 h) compared to a late diagnosis (>â24 h) in benign esophageal perforations, particularly in IEP, is associated with improved clinical outcome.publishedVersio
SIMBIO-SYS : Scientific Cameras and Spectrometer for the BepiColombo Mission
The SIMBIO-SYS (Spectrometer and Imaging for MPO BepiColombo Integrated Observatory SYStem) is a complex instrument suite part of the scientific payload of the Mercury Planetary Orbiter for the BepiColombo mission, the last of the cornerstone missions of the European Space Agency (ESA) Horizon + science program. The SIMBIO-SYS instrument will provide all the science imaging capability of the BepiColombo MPO spacecraft. It consists of three channels: the STereo imaging Channel (STC), with a broad spectral band in the 400-950 nm range and medium spatial resolution (at best 58 m/px), that will provide Digital Terrain Model of the entire surface of the planet with an accuracy better than 80 m; the High Resolution Imaging Channel (HRIC), with broad spectral bands in the 400-900 nm range and high spatial resolution (at best 6 m/px), that will provide high-resolution images of about 20% of the surface, and the Visible and near-Infrared Hyperspectral Imaging channel (VIHI), with high spectral resolution (6 nm at finest) in the 400-2000 nm range and spatial resolution reaching 120 m/px, it will provide global coverage at 480 m/px with the spectral information, assuming the first orbit around Mercury with periherm at 480 km from the surface. SIMBIO-SYS will provide high-resolution images, the Digital Terrain Model of the entire surface, and the surface composition using a wide spectral range, as for instance detecting sulphides or material derived by sulphur and carbon oxidation, at resolutions and coverage higher than the MESSENGER mission with a full co-alignment of the three channels. All the data that will be acquired will allow to cover a wide range of scientific objectives, from the surface processes and cartography up to the internal structure, contributing to the libration experiment, and the surface-exosphere interaction. The global 3D and spectral mapping will allow to study the morphology and the composition of any surface feature. In this work, we describe the on-ground calibrations and the results obtained, providing an important overview of the instrument performances. The calibrations have been performed at channel and at system levels, utilizing specific setup in most of the cases realized for SIMBIO-SYS. In the case of the stereo camera (STC), it has been necessary to have a validation of the new stereo concept adopted, based on the push-frame. This work describes also the results of the Near-Earth Commissioning Phase performed few weeks after the Launch (20 October 2018). According to the calibration results and the first commissioning the three channels are working very well.Peer reviewe
Geographical heterogeneity of clinical and serological phenotypes of systemic sclerosis observed at tertiary referral centres. The experience of the Italian SIR-SPRING registry and review of the world literature
Introduction: Systemic sclerosis (SSc) is characterized by a complex etiopathogenesis encompassing both host genetic and environmental -infectious/toxic- factors responsible for altered fibrogenesis and diffuse microangiopathy. A wide spectrum of clinical phenotypes may be observed in patients' populations from different geographical areas. We investigated the prevalence of specific clinical and serological phenotypes in patients with definite SSc enrolled at tertiary referral centres in different Italian geographical macro-areas. The observed findings were compared with those reported in the world literature.Materials and methods: The clinical features of 1538 patients (161 M, 10.5%; mean age 59.8 +/- 26.9 yrs.; mean disease duration 8.9 +/- 7.7 yrs) with definite SSc recruited in 38 tertiary referral centres of the SPRING (Systemic sclerosis Progression INvestiGation Group) registry promoted by Italian Society of Rheumatology (SIR) were obtained and clustered according to Italian geographical macroareas.Results: Patients living in Southern Italy were characterized by more severe clinical and/or serological SSc phenotypes compared to those in Northern and Central Italy; namely, they show increased percentages of diffuse cutaneous SSc, digital ulcers, sicca syndrome, muscle involvement, arthritis, cardiopulmonary symptoms, interstitial lung involvement at HRCT, as well increased prevalence of serum anti-Scl70 autoantibodies. In the same SSc population immunusppressive drugs were frequently employed. The review of the literature underlined the geographical heterogeneity of SSc phenotypes, even if the observed findings are scarcely comparable due to the variability of methodological approaches.Conclusion: The phenotypical differences among SSc patients' subgroups from Italian macro-areas might be correlated to genetic/environmental co-factors, and possibly to a not equally distributed national network of information and healthcare facilities
Status and prospects of discovery of 0ÎœÎČÎČ decay with the CUORE detector
In this contribution we present the achievements of the CUORE
experiment so far. It is the first tonne-scale bolometric detector and it is in stable
data taking since 2018. We reached to collect about 1800 kgĂyr of exposure of
which more than 1tonĂyear have been analysed. The CUORE detector is meant
to search for the neutrinoless double ÎČ decay (0ÎœÎČÎČ) of the 130Te isotope. This is
a beyond Standard Model process which could establish the nature of the neutrino
to be Dirac or a Majorana particle. It is an alternative mode of the two-neutrinos
double ÎČ decay, a rare decay which have been precisely measured by CUORE in
the 130Te. We found no evidence of the 0ÎœÎČÎČ and we set a Bayesian lower limit
of 2.2Ă1025yr on its half-life. The expertise achieved by CUORE set a milestone
for any future bolometric detector, including CUPID, which is the planned next
generation experiment searching for 0ÎœÎČÎČ with scintillating bolometers
A first test of CUPID prototypal light detectors with NTD-Ge sensors in a pulse-tube cryostat
CUPID is a next-generation bolometric experiment aiming at searching for
neutrinoless double-beta decay with ~250 kg of isotopic mass of Mo. It
will operate at 10 mK in a cryostat currently hosting a similar-scale
bolometric array for the CUORE experiment at the Gran Sasso National Laboratory
(Italy). CUPID will be based on large-volume scintillating bolometers
consisting of Mo-enriched LiMoO crystals, facing thin
Ge-wafer-based bolometric light detectors. In the CUPID design, the detector
structure is novel and needs to be validated. In particular, the CUORE cryostat
presents a high level of mechanical vibrations due to the use of pulse tubes
and the effect of vibrations on the detector performance must be investigated.
In this paper we report the first test of the CUPID-design bolometric light
detectors with NTD-Ge sensors in a dilution refrigerator equipped with a pulse
tube in an above-ground lab. Light detectors are characterized in terms of
sensitivity, energy resolution, pulse time constants, and noise power spectrum.
Despite the challenging noisy environment due to pulse-tube-induced vibrations,
we demonstrate that all the four tested light detectors comply with the CUPID
goal in terms of intrinsic energy resolution of 100 eV RMS baseline noise.
Indeed, we have measured 70--90 eV RMS for the four devices, which show an
excellent reproducibility. We have also obtained outstanding energy resolutions
at the 356 keV line from a Ba source with one light detector achieving
0.71(5) keV FWHM, which is -- to our knowledge -- the best ever obtained when
compared to detectors of any technology in this energy range.Comment: Prepared for submission to JINST; 16 pages, 7 figures, and 1 tabl
Twelve-crystal prototype of LiMoO scintillating bolometers for CUPID and CROSS experiments
An array of twelve 0.28 kg lithium molybdate (LMO) low-temperature bolometers
equipped with 16 bolometric Ge light detectors, aiming at optimization of
detector structure for CROSS and CUPID double-beta decay experiments, was
constructed and tested in a low-background pulse-tube-based cryostat at the
Canfranc underground laboratory in Spain. Performance of the scintillating
bolometers was studied depending on the size of phonon NTD-Ge sensors glued to
both LMO and Ge absorbers, shape of the Ge light detectors (circular vs.
square, from two suppliers), in different light collection conditions (with and
without reflector, with aluminum coated LMO crystal surface). The scintillating
bolometer array was operated over 8 months in the low-background conditions
that allowed to probe a very low, Bq/kg, level of the LMO crystals
radioactive contamination by Th and Ra.Comment: Prepared for submission to JINST; 23 pages, 9 figures, and 4 table
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