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

Reconfigurable photonic metamaterials drive by Coulomb, Lorentz and optical forces

Metamaterials offer a huge range of enhanced and novel functionalities that natural materials cannot provide. They promise applications in superresolution imaging, optical data storage, optical filters, polarization control, cloaking, fraud prevention and many more. However, their unique optical properties are often narrowband and usually fixed. Here we demonstrate how the mechanical rearrangement of metamaterial structures at the nanoscale provides a powerful platform for controlling metamaterial properties dynamically. Using thermal, electrical, magnetic and optical control signals we demonstrate large-range tuning, high-contrast switching and modulation of metamaterial optical properties at megahertz frequencies and beyond. Beyond the obvious benefit of adding tunability to known metamaterial functionalities, this unlocks many new opportunities in areas such as light modulation and highly nonlinear & bistable optical device

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

Lorentz force metamaterial with giant optical magnetoelectric response

We demonstrate the first reconfigurable photonic metamaterial controlled by electrical currents and magnetic fields, providing first practically useful solutions for sub-megahertz and high contrast modulation of metamaterial optical properties

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

IN VITRO AND IN VIVO REMOVAL OF ORAL ANTIDIABETIC AGENTS (METFORMIN) USING ACTIVATED CARBONS

Diabetes is the most worldwide common chronic disease, according the International Diabetes Federation [1], more than 32 million citizens living in the European Union have diabetes, representing nearly 10% of the population, to which we should add equal number of people suffering from impaired glucose tolerance. Diabetes prevalence is growing at alarming rate worldwide, being of particular relevance the type 2 diabetes. Nowadays 285 million people worldwide live with diabetes and it is expected that this numbers will increase by 20% until 2030 due to obesity and the ageing of the population [1]. This growth leads to an increasing consumption of drugs such as oral antidiabetics. Metformin is one of the active principles most commonly used for this purpose being among the pharmaceuticals with the highest production numbers worldwide to treat type 2 diabetes because is cheap, has high level of tolerance and when used in the prescribed dosage is very secure with minimal side effects. However, in case of overdose of metformin upon a ingestion of more than 10 times the prescribed dosage, accidentally or on propose, lactic acidosis and low blood pressure can occur. Overdoses with metformin are relatively uncommon, but may have serious consequences, if medical attention is not given on time, it may lead to coma and ultimately death Because of its spread use another problem must be taken into consideration, which needs to be addressed, the occurrence of metformin residues in sewage and surface waters due to improper discharge of the non-used tablets to regular garbage [2]. This situation is becoming a serious problem of environmental pollution and public health. This paper reports the use of activated carbon produced from biomass for the removal of metformin in 2 different settings. On one hand, from aqueous solutions and, in another hand, from simulated biological fluids (gastric and intestinal) conjugated with in vivo testing

Relação entre a Auditoria Interna e a Auditoria Externa e o Impacto nos Honorários dos Auditores Externos

Ao longo dos últimos anos dada a crescente exigência na fiabilidade da informação a fornecer aos mercados tem vindo a crescer o papel da auditoria interna nas empresas. Acresce que teoricamente existem vários pontos de actuação que são comuns entre a auditoria interna e a auditoria externa. Assim, partindo do contributo da auditoria interna para a auditoria externa, faz-se uma revisão bibliográfica de um conjunto de estudos empíricos com vista à análise dos fatores que podem estar na origem da influência desse contributo na formação dos honorários dos auditores externos. Da análise efetuada concluiu-se que, por um lado, o contributo pode reduzir, ou não, os honorários; por outro, esse efeito está fortemente associado com a perspectiva com que a relação entre estes dois tipos de auditoria podem ser vistos, isto é, depende do facto dos dois tipos de auditoria serem vistos como complementos ou como substituto