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

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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

GIS mapping of the archaeological sites in the Molise region (Italy)

The Molise Region, on the Adriatic coast of southern Italy, experienced human presence since prehistoric times. Site distribution is not homogeneous throughout the region and a comprehensive census of all known archaeological sites has never been performed. In this paper, we present the results of a three-year project for the GIS mapping and database creation for all the known archaeological sites of the Molise Region. As a result, 3111 archaeological sites have been mapped, stored in a GIS database and then analysed through Spatial Analyst tools. Most of the mapped sites have been classified as area of archaeological finds (57.1% of the total sites), followed by settlements (12.9%) and buildings (9.8%). Site distribution is mainly clustered along the Biferno river valley, in the central and in the south-western sectors of the Molise Region. The largest human occupation of the region occurred during the Samnite and Roman ages. Archaeological sites are also located at different elevation a.s.l., with a general increasing trend of site elevation through time. This GIS database is, up to now, the most complete census of archaeological sites in the study area, thus representing a powerful tool to promote the archaeological heritage of the Molise Region and to address urban planning

Neural Substrates of Chronic Pain in the Thalamocortical Circuit

Chronic pain (CP), a pathological condition with a large repertory of signs and symptoms, has no recognizable neural functional common hallmark shared by its diverse expressions. The aim of the present research was to identify potential dynamic markers shared in CP models, by using simultaneous electrophysiological extracellular recordings from the rat ventrobasal thalamus and the primary somatosensory cortex. We have been able to extract a neural signature attributable solely to CP, independent from of the originating conditions. This study showed disrupted functional connectivity and increased redundancy in firing patterns in CP models versus controls, and interpreted these signs as a neural signature of CP. In a clinical perspective, we envisage CP as disconnection syndrome and hypothesize potential novel therapeutic appraisal

Optimal irreversible stimulated emission

We studied the dynamics of an initially inverted atom in a semi-infinite waveguide, in the presence of a single propagating photon. We show that atomic relaxation is enhanced by a factor of 2, leading to maximal bunching in the output field. This optimal irreversible stimulated emission is a novel phenomenon that can be observed with state-of-the-art solid-state atoms and waveguides. When the atom interacts with two one-dimensional electromagnetic environments, the preferential emission in the stimulated field can be exploited to efficiently amplify a classical or a quantum state.Comment: 9 pages, 6 figure

Classification and Statistical Trend Analysis in Detecting Glaucomatous Visual Field Progression

Aim. To evaluate the agreement between different methods in detection of glaucomatous visual field progression using two classification-based methods and four statistical approaches based on trend analysis. Methods. This is a retrospective and longitudinal study. Twenty Caucasian patients (mean age 73.8 \ub1 13.43 years) with open-Angle glaucoma were recruited in the study. Each visual field was assessed by Humphrey Field Analyzer, program SITA standard 30-2 or 24-2 (Carl Zeiss Meditec, Inc., Dublin, CA). Full threshold strategy was also accepted for baseline tests. Progression was analyzed by using Hodapp-Parrish-Anderson classification and the Advanced Glaucoma Intervention Study visual field defect score. For the statistical analysis, linear regression (r2) was calculated for mean deviation (MD), pattern standard deviation (PSD), and visual field index (VFI), and when it was significant, each series of visual field was considered progressive. We also used Progressor to look for a significant progression of each visual field series. The agreement between methods, based on statistical analysis and classification, was evaluated using a weighted kappa statistic. Results. Thirty-eight visual field series were analyzed. The mean follow-up time was 6.2 \ub1 1.53 years (mean \ub1 standard deviation). At baseline, the mean MD was-7.34 \ub1 7.18 dB; at the end of the follow-up, the mean MD was-9.25 \ub1 8.65 dB; this difference was statistically significant (p<0.001). The agreement to detect progression was fair between all methods based on statistical analysis and classification except for PSD r2. A substantial agreement ( = 0.698 \ub1 0.126) was found between MD r2 and VFI r2. With the use of all the statistical analysis, there was a better time-saving. Conclusions. The best agreement to detect progression was found between MD r2 and VFI r2. VFI r2 showed the best agreement with all the other methods. GPA2 can help ophthalmologists to detect glaucoma progression and to help in treatment decisions. PSD r2 was the worse method to detect progression

A Fabry-Perot interferometer with quantum mirrors: nonlinear light transport and rectification

Optical transport represents a natural route towards fast communications, and it is currently used in large scale data transfer. The progressive miniaturization of devices for information processing calls for the microscopic tailoring of light transport and confinement at length scales appropriate for the upcoming technologies. With this goal in mind, we present a theoretical analysis of a one-dimensional Fabry-Perot interferometer built with two highly saturable nonlinear mirrors: a pair of two-level systems. Our approach captures non-linear and non-reciprocal effects of light transport that were not reported previously. Remarkably, we show that such an elementary device can operate as a microscopic integrated optical rectifier

Universal optimal broadband photon cloning and entanglement creation in one dimensional atoms

We study an initially inverted three-level atom in the lambda configuration embedded in a waveguide, interacting with a propagating single-photon pulse. Depending on the temporal shape of the pulse, the system behaves either as an optimal universal cloning machine, or as a highly efficient deterministic source of maximally entangled photon pairs. This quantum transistor operates over a wide range of frequencies, and can be implemented with today's solid-state technologies.Comment: 5 pages, 3 figure

Avaliação agrotécnica dos seringais Marathon, São Francisco e Santana, situados no município de São Francisco do Pará.

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