Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia

No abstract availabl

Genetic issues in the diagnosis of dystonias

Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures. Several causative genes have been identified, but their genetic bases still remain elusive. Primary Torsion Dystonias (PTDs), in which dystonia is the only clinical sign, can be inherited in a monogenic fashion, and many genes and loci have been identified for autosomal dominant (DYT1/TOR1A; DYT6/THAP1; DYT4/TUBB4a; DYT7; DYT13; DYT21; DYT23/CIZ1; DYT24/ANO3; DYT25/GNAL) and recessive (DYT2; DYT17) forms. However most sporadic cases, especially those with late-onset, are likely multifactorial, with genetic and environmental factors interplaying to reach a threshold of disease. At present, genetic counseling of dystonia patients remains a difficult task. Recently non-motor clinical findings in dystonias, new highlights in the pathophysiology of the disease, and the availability of high-throughput genome-wide techniques are proving useful tools to better understand the complexity of PTD genetics. We briefly review the genetic basis of the most common forms of hereditary PTDs, and discuss relevant issues related to molecular diagnosis and genetic counseling

Effect of insulin glargine on cardiovascular risk analysed by mean HRV

Type 2 diabetes mellitus is an insidious disease that is increasingly present in geriatric population [1]. The greatest difficulty is represented by glycaemic control in geriatric patients often not very compliant with diet therapy and drug therapy. A new insulin glargine 300 units/ml formulation seems im- prove patient compliance due to the lower volume of insulin to be injected and improved glycaemic control over 24 hours. The HRV signal, derived from digital electrocardiographic recording, is the simplest and most imme- diate analysis that consists in calculating some temporal parameters [2]. HRV is a simple statistics derived from beat-beat intervals of sinus origin expressed as units of time in milliseconds. Data in the literature indicate that a decrease in HRV, measured with time domain analysis, denotes a worse prognosis and/or an increased risk of mortality in patients with heart disease, especially in the elderly ones

Capital Subsidies Versus Labour Subsidies: A Trade-Off Between Capital and Employment?

This paper examines the consequences of capital and labour subsidies for employment, capital formation and other macroeconomic variables within an OLG small open economy model of wealth accumulation. Two cases, the neoclassical-equilibrium one and the modern-equilibrium one, have been analysed. We discover that the employment effects of the subsidies studied differ significantly, while whether the subsidy hike is financed by an increase of payroll taxation or a decrease of employment subsidisation is immaterial for the qualitative effects on the macroeconomic system. In the neoclassical-equilibrium theory, a capital subsidy causes a temporary increase in hours worked which vanishes in the new long run, while an increase in labour subsidy has no aggregate effects on the macroeconomic equilibrium. The key finding of the modern-equilibrium case is the existence of a negative relationship between capital formation and employment. Capital subsidies boost investment and aggravate unemployment, while labour subsidies stimulate employment and may depress capital accumulation. unemployment, wealth accumulationThis paper examines the consequences of capital and labour subsidies for employment, capital formation and other macroeconomic variables within an OLG small open economy model of wealth accumulation. Two cases, the neoclassical-equilibrium one and the modern-equilibrium one, have been analysed. We discover that the employment effects of the subsidies studied differ significantly, while whether the subsidy hike is financed by an increase of payroll taxation or a decrease of employment subsidisation is immaterial for the qualitative effects on the macroeconomic system. In the neoclassical-equilibrium theory, a capital subsidy causes a temporary increase in hours worked which vanishes in the new long run, while an increase in labour subsidy has no aggregate effects on the macroeconomic equilibrium. The key finding of the modern-equilibrium case is the existence of a negative relationship between capital formation and employment. Capital subsidies boost investment and aggravate unemployment, while labour subsidies stimulate employment and may depress capital accumulation. unemployment, wealth accumulationRefereed Working Papers / of international relevanc

The XMM/BeppoSAX observation of Mkn 841

Mkn 841 has been observed simultaneously by XMM and BeppoSAX in January 2001. Due to operational contingency, the 30ks XMM observation was split into two parts, separated by about 15 hours. We first report the presence of a narrow iron line which appears to be rapidly variable between the two pointings, requiring a non-standard interpretation. We then focus on the analysis of the broad band (0.3-200 keV) continuum using the XMM/EPIC, RGS and SAX/PDS data. The Mkn 841 spectrum is well fitted by a comptonization model in a geometry more photon-fed than a simple slab geometry above a passive disk. It presents a relatively large reflection (R>2) which does not agree with an apparently weak iron line. It also show the presence of a strong soft excess wellfitted by a comptonized spectrum in a cool plasma, suggesting the presence of a multi-temperature corona.Comment: 4 pages, 5 figures. Proc. of the meeting: "The Restless High-Energy Universe" (Amsterdam, The Netherlands), E.P.J. van den Heuvel, J.J.M. in 't Zand, and R.A.M.J. Wijers Ed

Absorption lines from magnetically-driven winds in X-ray binaries

High resolution X-ray spectra of black hole X-ray binaries (BHBs) show blueshifted absorption lines from disk winds which seem to be equatorial. Winds occur in the Softer (disk-dominated) states of the outburst and are less prominent or absent in the Harder (power-law dominated) states. We use self-similar magneto-hydrodynamic (MHD) accretion-ejection models to explain the disk winds in BHBs. In our models, the density at the base of the outflow from the accretion disk is not a free parameter, but is determined by solving the full set of dynamical MHD equations. Thus the physical properties of the outflow are controlled by the global structure of the disk. We studied different MHD solutions characterized by different values of (a) the disk aspect ratio ($\varepsilon$) and (b) the ejection efficiency ($p$). We use two kinds of MHD solutions depending on the absence (cold solution) or presence (warm solution) of heating at the disk surface. Such heating could be from e.g. dissipation of energy due to MHD turbulence in the disk or from illumination. We use each of these MHD solutions to predict the physical parameters of an outflow; put limits on the ionization parameter ($\xi$), column density and timescales, motivated by observational results; and thus select regions within the outflow which are consistent with the observed winds. The cold MHD solutions cannot account for winds due to their low ejection efficiency. But warm solutions can explain the observed physical quantities in the wind because they can have sufficiently high values of $p$ ($\gtrsim 0.1$, implying larger mass loading at the base of the outflow). Further from our thermodynamic equilibrium curve analysis for the outflowing gas, we found that in the Hard state a range of $\xi$ is thermodynamically unstable, and had to be excluded. This constrain made it impossible to have any wind at all, in the Hard state.Comment: 16 Pages, 10 figures in the main body and 4 figures in the appendix. Accepted for publication in A&

The ozonolysis of primary aliphatic amines in fine particles

International audienceThe oxidative processing by ozone of the particulate amines octadecylamine (ODA) and hexadecylamine (HDA) is reported. Ozonolysis of these amines resulted in strong NO2? and NO3? ion signals that increased with ozone exposure as monitored by photoelectron resonance capture ionization aerosol mass spectrometry. These products suggest a mechanism of progressive oxidation of the particulate amines to nitroalkanes. Additionally, a strong ion signal at 125 m/z is assigned to the ion NO3? (HNO3). For ozonized mixed particles containing ODA or HDA + oleic acid (OL), with pO3?3×10?7 atm, imine, secondary amide, and tertiary amide products were measured. These products most likely arise from reactions of amines with aldehydes (for imines) and stabilized Criegee intermediates (SCI) or secondary ozonides (for amides) from the fatty acid. The routes to amides via SCI and/or secondary ozonides were shown to be more important than comparable amide forming reactions between amines and organic acids, using azelaic acid as a test compound. Finally, direct evidence is provided for the formation of a surface barrier in the ODA + OL reaction system that resulted in the retention of OL at high ozone exposures (up to 10?3 atm for 17 s). This effect was not observed in HDA + OL or single component OL particles, suggesting that it may be a species-specific surfactant effect from an in situ generated amide or imine. Implications to tropospheric chemistry, including particle bound amines as sources of oxidized gas phase nitrogen species (e.g.~NO2, NO3), formation of nitrogen enriched HULIS via ozonolysis of amines and source apportionment are discussed

The ozonolysis of primary aliphatic amines in single and multicomponent fine particles

International audienceThe oxidative processing by ozone of the particulate amines octadecylamine (ODA) and hexadecylamine (HDA) is reported. Ozonolysis of these amines resulted in strong NO2? and NO3? ion signals that increased with ozone exposure as monitored by photoelectron resonance capture ionization aerosol mass spectrometry. These products suggest a mechanism of progressive oxidation of the particulate amines to nitro alkanes. Additionally, a strong ion signal at 125 m/z is assigned to the ion NO3?(HNO3). For ozonized mixed particles containing ODA or HDA + oleic acid (OL), with pO3?3×10?7 atm, imine, secondary amide, and tertiary amide products were measured. These products most likely arise from reactions of amines with aldehydes (for imines) and stabilized Criegee intermediates (SCI) or secondary ozonides (for amides) from the fatty acid. The routes to amides via SCI and/or secondary ozonides was shown to be more important than comparable amide forming reactions between amines and organic acids, using azelaic acid as a test compound. Finally, direct evidence is provided for the formation of a surface barrier in the ODA + OL reaction system that resulted in the retention of OL at high ozone exposures (up to 10?3 atm for 17 s). This effect was not observed in HDA + OL or single component OL particles, suggesting that it may be a species-specific surfactant effect from an in situ generated amide or imine. Implications to tropospheric chemistry, including particle bound amines as sources of oxidized gas phase nitrogen species (e.g. NO2, NO3), formation of nitrogen enriched HULIS via ozonolysis of amines and source apportionment are discussed

Changes in the occurrence of rainfall-induced landslides in Calabria, southern Italy, in the 20th century

Abstract. Only a few studies have investigated the geographical and temporal variations in the frequency and distribution of rainfall-induced landslides, and the consequences of the variations on landslide risk. Lack of information limits the possibility to evaluate the impact of environmental and climate changes on landslide frequency and risk. Here, we exploit detailed historical information on landslides and rainfall in Calabria, southern Italy, between 1921 and 2010 to study the temporal and the geographical variation in the occurrence of rainfall-induced landslides and in their impact on the population. We exploit a catalogue with information on historical landslides from June 1920 to December 2010, and daily rainfall records obtained by a network of 318 rain gauges in the same period, to reconstruct 448 493 rainfall events (RE). Combining the rainfall and the landslide information, we obtain a catalogue of 1466 rainfall events with landslides (REL), where an REL is the occurrence of one or more landslide during or immediately after a rainfall event. We find that (i) the geographical and the temporal distributions of the rainfall-induced landslides have changed in the observation period, (ii) the monthly distribution of the REL has changed in the observation period, and (iii) the average and maximum cumulated event rainfall that have resulted in landslides in the recent 30-year period 1981–2010 are lower than the rainfall necessary to trigger landslides in previous periods, whereas the duration of the RE that triggered landslides has remained the same. We attribute the changes to variations in the rainfall conditions and to an increased vulnerability of the territory. To investigate the variations in the impact of REL on the population, we compared the number of REL in each of the 409 municipalities in Calabria with the size of the population in the municipalities measured by national Censuses conducted in 1951, 1981, and 2011. We adopted two strategies; the first strategy considered impact as IREL = #REL / P, and the second strategy measured impact as RREL = #REL × P, where #REL is the total number of REL in a period, and P is the size of the population in the same period and geographical area. The analysis has revealed a complex pattern of changes in the impact of rainfall-induced landslides in Calabria in the recent past, with areas where IREL and RREL have increased, and other areas where they have decreased. Municipalities where IREL has increased are mainly in the mountains, and municipalities where RREL has increased are mainly along the coasts. The complexity of the changes in the frequency and impact of rainfall-induced landslides observed in Calabria suggests that it remains difficult and uncertain to predict the possible variations in the frequency and impact of landslide in response to future climatic and environmental changes

On the age of the magnetically active WW Psa and TX Psa members of the beta Pictoris association

There are a variety of different techniques available to estimate the ages of pre-main-sequence stars. Components of physical pairs, thanks to their strict coevality and the mass difference, such as the binary system analysed in this paper, are best suited to test the effectiveness of these different techniques. We consider the system WW Psa + TX Psa whose membership of the 25-Myr beta Pictoris association has been well established by earlier works. We investigate which age dating technique provides the best agreement between the age of the system and that of the association. We have photometrically monitored WW Psa and TX Psa and measured their rotation periods as P = 2.37d and P = 1.086d, respectively. We have retrieved from the literature their Li equivalent widths and measured their effective temperatures and luminosities. We investigate whether the ages of these stars derived using three independent techniques are consistent with the age of the beta Pictoris association. We find that the rotation periods and the Li contents of both stars are consistent with the distribution of other bona fide members of the cluster. On the contrary, the isochronal fitting provides similar ages for both stars, but a factor of about four younger than the quoted age of the association, or about 30% younger when the effects of magnetic fields are included. We explore the origin of the discrepant age inferred from isochronal fitting, including the possibilities that either the two components may be unresolved binaries or that the basic stellar parameters of both components are altered by enhanced magnetic activity. The latter is found to be the more reasonable cause, suggesting that age estimates based on the Li content is more reliable than isochronal fitting for pre-main-sequence stars with pronounced magnetic activity.Comment: Accepted by Astronomy and Astrophysics on December 13, 2016. 13 pages and 11 figure