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

Correlation between magnetic interactions and domain structure in A1 FePt ferromagnetic thin films

We have investigated the relationship between the domain structure and the magnetic interactions in a series of FePt ferromagnetic thin films of varying thickness. As-made films grow in the magnetically soft and chemically disordered A1 phase that may have two distinct domain structures. Above a critical thickness $d_{cr}\sim 30$ nm the presence of an out of plane anisotropy induces the formation of stripes, while for $d<d_{cr}$ planar domains occur. Magnetic interactions have been characterized using the well known DCD-IRM remanence protocols, $\delta M$ plots, and magnetic viscosity measurements. We have observed a strong correlation between the domain configuration and the sign of the magnetic interactions. Planar domains are associated with positive exchange-like interactions, while stripe domains have a strong negative dipolar-like contribution. In this last case we have found a close correlation between the interaction parameter and the surface dipolar energy of the stripe domain structure. Using time dependent magnetic viscosity measurements, we have also estimated an average activation volume for magnetic reversal, $\langle V_{ac}\rangle \sim 1.37\times 10^{4}$ nm$^{3},$ which is approximately independent of the film thickness or the stripe period.Comment: 25 pages, 11 figure

Optimization of Robustness of Complex Networks

Networks with a given degree distribution may be very resilient to one type of failure or attack but not to another. The goal of this work is to determine network design guidelines which maximize the robustness of networks to both random failure and intentional attack while keeping the cost of the network (which we take to be the average number of links per node) constant. We find optimal parameters for: (i) scale free networks having degree distributions with a single power-law regime, (ii) networks having degree distributions with two power-law regimes, and (iii) networks described by degree distributions containing two peaks. Of these various kinds of distributions we find that the optimal network design is one in which all but one of the nodes have the same degree, $k_1$ (close to the average number of links per node), and one node is of very large degree, $k_2 \sim N^{2/3}$, where $N$ is the number of nodes in the network.Comment: Accepted for publication in European Physical Journal

A prototype large-angle photon veto detector for the P326 experiment at CERN

The P326 experiment at the CERN SPS has been proposed with the purpose of measuring the branching ratio for the decay K^+ \to \pi^+ \nu \bar{\nu} to within 10%. The photon veto system must provide a rejection factor of 10^8 for \pi^0 decays. We have explored two designs for the large-angle veto detectors, one based on scintillating tiles and the other using scintillating fibers. We have constructed a prototype module based on the fiber solution and evaluated its performance using low-energy electron beams from the Frascati Beam-Test Facility. For comparison, we have also tested a tile prototype constructed for the CKM experiment, as well as lead-glass modules from the OPAL electromagnetic barrel calorimeter. We present results on the linearity, energy resolution, and time resolution obtained with the fiber prototype, and compare the detection efficiency for electrons obtained with all three instruments.Comment: 8 pages, 9 figures, 2 tables. Presented at the 2007 IEEE Nuclear Science Symposium, Honolulu HI, USA, 28 October - 3 November 200

Morphological and biochemical changes in trisomy 21

Introdução: A Trissomia 21 (T21) é a aneuploidia mais comum, apresentando uma prevalência de 1/670 nascimentos. É a principal causa de défice intelectual moderado a grave, e está associada a diversas anomalias congénitas, sendo as malformações cardiovasculares as mais frequentes. O objetivo deste trabalho é caracterizar as alterações morfológicas e bioquímicas nos casos de T21. Material e Métodos: Estudo prospetivo, realizado no nosso Hospital entre 1998 e 2008, de avaliação dos casos com rastreio bioquímico considerado positivo para T21. Foram também analisados os resultados dos exames invasivos realizados no mesmo período e revistos os processos com diagnóstico de T21 neste exame, assim como os processos das mães cujos recém-nascidos foram codificados com diagnóstico de T21 na alta. Resultados: Neste período foram efetuados 12163 rastreios. Foram identificados 18 casos de T21. Houve 2 resultados falsos-negativos, representando uma taxa de deteção do rastreio de 88,9%. A mediana das MoM's dos marcadores bioquímicos nas grávidas com fetos afetados foi: 0,735 de AFP, 0,685 de µE3 e 2,54 de βHCG. Quinze dos 18 casais optaram por interromper a gravidez. Nasceram 3 recém-nascidos com T21. As anomalias presentes nos fetos afetados foram essencialmente alterações do hábito externo, nomeadamente a existência de pregas palmares transversais em uma ou ambas as mãos e alterações craniofaciais. Quanto às alterações do hábito interno as mais comuns foram as malformações cardiovasculares, nomeadamente a comunicação interventricular (CIV). Discussão: Neste estudo a taxa de deteção do rastreio foi elevada. A maioria dos casais optou por interromper a gravidez. A maioria dos fetos e recém-nascidos afetados apresentou alterações morfológicas subtis, difíceis de detetar ecograficamente, salientando a importância do rastreio bioquímico.info:eu-repo/semantics/publishedVersio

Negative consequences of conflict-related sexual violence on survivors: a systematic review of qualitative evidence

BackgroundConflicts exacerbate dynamics of power and inequalities through violence normalization, which acts as a facilitator for conflict-related sexual violence. Literature addressing its negative outcomes on survivors is scant. The aim of this systematic review was to analyze the qualitative evidence reported in scientific literature and focusing on the negative consequences of conflict-related sexual violence on victims' physical, psychological, and social dimensions of health in a gender-inclusive and disaggregated form.MethodsA literature search was conducted on January 13, 2023 on Pubmed, Scopus, and PsychArticles. The search strings combined two blocks of terms related to sexual violence and conflict. A time filter was applied, limiting the search to studies published in the last ten years. Information regarding the main characteristics and design of the study, survivors and their experience, and about conflict-related sexual violence was collected. The negative consequences of conflict-related sexual violence on the physical, psychological, and social dimension of victims were extracted according to the Biopsychosocial model of health. The review followed the Joanna Briggs Institute methodology for systematic reviews and relied on the Preferred Reporting Items for Systematic reviews and Meta-Analyses.ResultsAfter full text review, 23 articles met the inclusion criteria, with 18 of them reporting negative repercussions on physical health, all of them highlighting adverse psychological outcomes, and 21 disclosing unfavorable social consequences. The negative outcomes described in multiple studies were sexual and reproductive health issues, the most mentioned being pregnancy, manifestations of symptoms attributable to post-traumatic stress disorder, and stigma. A number of barriers to access to care were presented as emerging findings.ConclusionsThis review provided an analysis of the negative consequences of conflict-related sexual violence on survivors, thus highlighting the importance of qualitative evidence in understanding these outcomes and addressing barriers to access to care. Conflict-related sexual violence is a sexual and reproductive health issue. Sexuality education is needed at individual, community, and provider level, challenging gender norms and roles and encompassing gender-based violence. Gender-inclusive protocols and services need to be implemented to address the specific needs of all victims. Governments should advocate for SRHRs and translate health policies into services targeting survivors of CRSV

Long-term manipulation of soil moisture availability alters ecosystem processes in eastern Amazonian forest regrowth, Brazil.

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