The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic ...patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and families. Genetic testing should be offered to ALS patients who have a first-degree or second-degree relative with ALS, FTD or both, and should be discussed with, but not offered to, all other ALS patients, with special emphasis on its major uncertainties. Presently, genetic testing should not be proposed to asymptomatic at-risk subjects, unless they request it or are enrolled in research programmes. Genetic counselling in ALS should take into account the uncertainties about the pathogenicity and penetrance of some genetic mutations; the possible presence of mutations of different genes in the same individual; the poor genotypic/phenotypic correlation in most ALS genes; and the phenotypic pleiotropy of some genes. Though psychological, social and ethical implications of genetic testing are still relatively unexplored in ALS, we recommend multidisciplinary counselling that addresses all relevant issues, including disclosure of tests results to family members and the risk for genetic discrimination.
A radio frequency (RF) (280 MHz) electron paramagnetic resonance (EPR) spectroscopy and imaging apparatus has been used to localize a pyrrolidine nitroxide free radical in the rat abdomen and thorax. ...The nitroxide 2,2.5.5,-tetramethylpyrrolidine-1-oxyl-3- carboxylic acid (PCA) had a whole body monoexponential decay with half-life of 13.3 +/- 0.7 (n = 4), 19.4 +/- 0.2 (n = 3), and 23 +/- 2 (n = 6) min for 1, 2, and 3 mmol/kg PCA, respectively. Up to seven one-dimensional longitudinal projections were collected on six rats in the presence of a 8 mT/m field gradient. With an injection dose of 3 mmol/kg, PCA half-lives were 19 +/- 1, 17 +/- 2, and 22 +/- 2
min (n = 6) in the lower abdomen, in the liver, and in the thorax, respectively. Thorax half-life was significantly longer than liver half-life. Sequential two-dimensional images of PCA distribution in a plane longitudinal to the rat body were obtained from eight spectra in the presence of a gradient of 12 mT/m (acquisition time 5
min; spatial resolution 8 mm). After 7
min, the nitroxide was detectable in the left side of the thorax area, but it was mostly localized in the liver. PCA was more uniformly distributed in the image collected after 17
min.
The CSES satellite, developed by Chinese (CNSA) and Italian (ASI) space Agencies, will investigate iono-magnetospheric disturbances (induced by seismicity and electromagnetic emissions of ...tropospheric and anthropogenic origin); will monitor the temporal stability of the inner Van Allen radiation belts and will study the solar-terrestrial coupling by measuring fluxes of cosmic rays and solar energetic particles. In particular the mission aims at confirming the existences (claimed from several analyses) of a temporal correlations between the occurrence of earthquakes and the observation in space of electromagnetic disturbances, plasma fluctiations and anomalous fluxes of high-energy particles precipitating from the inner Van Allen belt. CSES will be launched in the summer of 2017 with a multi-instruments payload able to measure: e.m. fields, charged particles, plasma, TEC, etc. The Italian LIMADOU collaboration will provide the High-Energy Particle Detector (HEPD), designed for detecting electrons (3–200MeV) and proton (30–300MeV)), and participates to develop the Electric Field Detector (EFD) conceived for measuring electric field from ∼DC up to 5MHz.
•On Summer 2017, the CSES satellite will be launched to study the near-Earth e.m., plasma & particles environment.•The scientific objectives are: litho-atmo-ionosphere coupling, seismic precursors, solar-terrestrial physics & cosmic rays.•For CSES, we have built a high-energy particle detector (HEPD) and an electric field detector (EFD).•The article introduces the scientific background, the objectives of CSES and the satellite layout.•We discuss the features of HEPD and EFD, the calibration procedures and the laboratory tests.
We describe a submicrosecond resonator and receiver system for use in pulsed magnetic resonance at 220 MHz. This new resonator and receiver system design enables a reduction of the dead time, and in ...principle its complete elimination. We show experimentally that the resonator and receiver system permits the detection of free induction decay signals 300 ns from the end of the transmitting pulse, even with large (55-ml) saline samples. This apparatus was specifically developed forin vivoFourier transform electron paramagnetic resonance detection of free radicals; however, it can also be used in pulsed nuclear magnetic resonance imaging of solids with applications in materials research and the polymer industry.
A cylindrical 16-pole electromagnet (EM) for electron paramagnetic resonance imaging (EPRI) and low-field magnetic resonance imaging (MRI) has been designed by means of two-dimensional and ...three-dimensional (3-D) finite element analysis (FEA). The use of an automatic procedure that combines FEA with a minimization routine allowed the optimization of the design, in order to improve the homogeneity along the axis of the EM. A prototype has been built by using electrical steel sheets that were cut by laser; this solution reduced significantly the manufacturing cost. The EM operates with a maximum flux density, in the bore, of 0.08 T and has a homogeneity along the axis of about 40 parts per million (ppm) in a spherical region 10 cm in diameter. It generates the main field and two of the three field gradients required in the 3-D image reconstruction. Good agreement was found between the results of simulation and the measured values.
Electron paramagnetic resonance imaging (EPRI) is currently being developed at frequencies between 200 MHz and 2 GHz. EPRI can map the in vivo distribution of paramagnetic species, such as water ...soluble free radicals; nitroxide free radicals are commonly used. EPR images reflect the complexity of metabolic actions on the exogenous delivered nitroxides. Their reduction rate in vivo is affected by parameters such as oxygen concentration, pH and biodistribution. This paper illustrates the main features of low frequency EPRI and reconstruction techniques. Examples of EPR imaging, such as two-dimensional (2D) spatial mapping of the distribution of a nitroxide free radical in phantoms and in whole rat, are given.
Pulsed nuclear magnetic resonance imaging (NMRI) apparatus has developed very quickly. On the other hand, the development of apparatus for pulsed electron paramagnetic resonance imaging (EPRI) has ...been very slow. This fact is due to the extremely reduced relaxation times of the paramagnetic probes. EPR linewidths are larger than typical NMR linewidths. These large linewidths are also responsible for a substantial worsening of spatial resolution. Due to the brevity of the electronic relaxation times, not all the acquisition/reconstruction techniques currently used in NMRI (such as spin-echo, gradient-echo, etc) can be applied in pulsed EPRI. In fact, the usable sequences in pulsed EPRI are only acquisitions from projections, where it is possible to use stationary magnetic field gradients. Moreover, the use of high fixed magnetic field gradients induces a short decay time constant T2*. The low T2* value can make it impossible for the analogue to digital conversion system (ADC) to reproduce signal variations during the whole acquisition interval and the resolution can worsen. A new pulsed EPRI acquisition sequence from projections, based on selective reception, is presented that is particularly useful in solving the problems of worsening of spatial resolution associated with the use of an ADC. In order to demonstrate the capabilities of our acquisition method, simulated numerical tests will also be reported.
An innovative algorithm is presented which is effective in reducing the truncation artefacts occurring in magnetic resonance images due to missing
k-space samples. The algorithm works first by ...filling the incomplete matrix of coefficients with zeroes and then adjusting, by an iterative process, the missing coefficients by performing a reduction of the undersampling artefacts. Then, this set of coefficients is used as a basis for a superresolution algorithm that estimates the missing coefficients by modeling the data as a linear combination of increasing and decreasing exponential functions using Prony's method. In fact, the Prony's method consists of the interpolation of a given data set with a sum of exponential functions: the MRI signals can be well represented as a sum of exponential functions and the missing data can be extrapolated by this representation. The algorithm has been proven to perform better than either a simple algorithm, which detects and then reduces the undersampling artefacts, or an algorithm that models the measured data with approximation functions. The presented algorithm is quite simple and is applicable both to missing rows (phase-frequency acquisitions) and to radial-missing angle (acquisition from projections) undersampling. Experimental results are reported; comparisons, made between the results obtained using the presented algorithm and the alternative methods described above, clearly demonstrate the superiority of the algorithm.
Objective: In Italy the law on industrial risk has emphasised the necessity of building a local information process to answer people's questions on safety and provide greater community participation ...in risk management. The aim of this research is to analyse the local population's ideas and expectations of a participatory approach in risk management in order to design a risk communication programme based on health promotion principles. Design, setting and participants: The study was carry out in Portoscuso (Italy), an industrial district. A questionnaire was administrated through home interviews to 147 citizens. Main results: Six risk management styles were identified on the basis of citizens' trust in the different stakeholders. Additional parameters (importance of information, organisations they would trust to get information on industrial risks, preferred risk communication methodologies) were analysed according to the management styles. Conclusions: On the basis of these elements, a multi-approach strategy could be proposed. Each management style can have different roles. A programme of public forums could involve citizens with an interactive approach, interactive courses could involve citizens with a semi-participative approach, and leaflets and booklets could inform citizens oriented towards unidirectional communication. The participative process should always be open to new contributions from citizens who are not directly involved, and should allow for flexibility in the form and nature of partnership, as well as the details of implementation.
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