Caracterização fenotípica e genotípica de doentes com espondilite anquilosante

Mestrado em Biologia Molecular e CelularA espondilite anquilosante (EA) é uma doença reumática inflamatória crónica (comprometimento do aparelho músculo-esquelético), que afeta o esqueleto axial e, em menor grau, articulações periféricas e órgãos extra-articulares. A lombalgia noturna, a rigidez matinal e, em fases mais avançadas da doença, a incapacidade funcional são as queixas mais frequentes. A EA aparece como uma doença isolada na maioria dos casos. Porém, em alguns casos, pode estar associada a uma doença chamada psoríase ou a doenças inflamatórias intestinais. A EA afecta sobretudo adultos jovens, ou seja, em idade ativa. A prevalência da doença é muito variável, entre 10-20 casos/100.000 habitantes, consoante a prevalência do alelo HLA-B27 nas populações (1-18%, consoante as etnias e as diferentes séries da literatura), já que a doença associa-se em 85-95% dos casos ao HLA-B27. Recentemente, estudos genómicos de pacientes com EA identificaram e validaram outros loci, além do HLA-B27, envolvidos na patogénese dessa doença. Tais genes são a aminopeptidase 1 do retículo endoplasmático (ERAP-1), o recetor interleucina 23 (IL-23R), o recetor IL-1 (IL-1RII) e dois loci que codificam genes desconhecidos. Esta doença pode interferir com a atividade profissional e ter importantes repercussões psicoafectivas e sócio-económicas. Este trabalho tem como objectivo estudar EA, através da caracterização fenotípica e genotípica, relacionando regiões do genoma específicas com suscetibilidade à EA.Ankylosing spondylitis (AS) is a chronic inflammatory rheumatic disease that affects the axial skeleton and, to a lesser extent, peripheral joints and extra-articular organs. Nocturnal back pain, morning stiffness and, in more advanced stages of the disease, functional disability are the most frequent complaints. AS appears as a primary disease in most cases. However, in some cases, it could be associated with a disease called psoriasis or inflammatory bowel diseases. AS affects primarily young adults or in working age. The prevalence of the disease varies greatly between 10-20 cases per 100,000 in habitants , according to the prevalence of HLA - B27 allele in populations ( 1-18 % depending on the ethnic groups and different literature series ) , since the disease is associated with in 85-95 % of cases with HLA B27 . Recently, genomic studies of patients with EA identified and validated other loci in addition to the HLA-B27 involved in the pathogenesis of this disease. Such genes are aminopeptidase one of the endoplasmic reticulum (ERAP -1), interleukin 23 receptor (IL- 23R), the IL-1 receptor (IL- 1RII) and two other loci that encode genes with unknown function. This disease can interfere with professional activities and have important psychoaffective and socio - economic repercussions. This work aims to study EA by phenotypic and genotypic characterization, relating specific regions of the genome with susceptibility to AS

The CYGNO Experiment

The search for a novel technology able to detect and reconstruct nuclear and electron recoil events with the energy of a few keV has become more and more important now that large regions of high-mass dark matter (DM) candidates have been excluded. Moreover, a detector sensitive to incoming particle direction will be crucial in the case of DM discovery to open the possibility of studying its properties. Gaseous time projection chambers (TPC) with optical readout are very promising detectors combining the detailed event information provided by the TPC technique with the high sensitivity and granularity of latest-generation scientific light sensors. The CYGNO experiment (a CYGNus module with Optical readout) aims to exploit the optical readout approach of multiple-GEM structures in large volume TPCs for the study of rare events as interactions of low-mass DM or solar neutrinos. The combined use of high-granularity sCMOS cameras and fast light sensors allows the reconstruction of the 3D direction of the tracks, offering good energy resolution and very high sensitivity in the few keV energy range, together with a very good particle identification useful for distinguishing nuclear recoils from electronic recoils. This experiment is part of the CYGNUS proto-collaboration, which aims at constructing a network of underground observatories for directional DM search. A one cubic meter demonstrator is expected to be built in 2022/23 aiming at a larger scale apparatus (30 m$^3$--100 m$^3$) at a later stage

50 litres TPC with sCMOS-based optical readout for the CYGNO project

The CYGNO project aims at realising a one cubic meter gaseous Time Projection Chamber (TPC) equipped with Scientific CMOS (sCMOS) commercial cameras to optically readout Gas Electron Multiplier (GEM) to be operated at the underground of Gran Sasso National Laboratory (LNGS). The purpose of the project is to study the technology needed for a large size gaseous TPC (30–100 m ) operated at atmospheric pressure for the directional search of low mass O(GeV) dark matter and low energy (eg solar) neutrinos astronomy. The roadmap of the project foresees the underground operation of a 50 litres TPC prototype, called LIME, the largest TPC realised with this technology, fully equipped with copper and water shielding. LIME is equivalent to about a 1/20 of the CYGNO demonstrator and aims to validate: The construction materials, the Monte Carlo simulations, the data reconstruction and the particle identification performances at low energy threshold. LIME is under installation at the LNGS and it is supposed to start data taking at the beginning of 2022. The detector description and installation will be presented, as well as the overground performance and limitations that require underground characterisation

Characterisation of microbial attack on archaeological bone

As part of an EU funded project to investigate the factors influencing bone preservation in the archaeological record, more than 250 bones from 41 archaeological sites in five countries spanning four climatic regions were studied for diagenetic alteration. Sites were selected to cover a range of environmental conditions and archaeological contexts. Microscopic and physical (mercury intrusion porosimetry) analyses of these bones revealed that the majority (68%) had suffered microbial attack. Furthermore, significant differences were found between animal and human bone in both the state of preservation and the type of microbial attack present. These differences in preservation might result from differences in early taphonomy of the bones. © 2003 Elsevier Science Ltd. All rights reserved

The state of health in the European Union (EU-27) in 2019: a systematic analysis for the Global Burden of Disease study 2019

Background: The European Union (EU) faces many health-related challenges. Burden of diseases information and the resulting trends over time are essential for health planning. This paper reports estimates of disease burden in the EU and individual 27 EU countries in 2019, and compares them with those in 2010.Methods: We used the Global Burden of Disease 2019 study estimates and 95% uncertainty intervals for the whole EU and each country to evaluate age-standardised death, years of life lost (YLLs), years lived with disability (YLDs) and disability-adjusted life years (DALYs) rates for Level 2 causes, as well as life expectancy and healthy life expectancy (HALE).Results:In 2019, the age-standardised death and DALY rates in the EU were 465.8 deaths and 20,251.0 DALYs per 100,000 inhabitants, respectively. Between 2010 and 2019, there were significant decreases in age-standardised death and YLL rates across EU countries. However, YLD rates remained mainly unchanged. The largest decreases in age-standardised DALY rates were observed for "HIV/AIDS and sexually transmitted diseases" and "transport injuries" (each -19%). "Diabetes and kidney diseases" showed a significant increase for age-standardised DALY rates across the EU (3.5%). In addition, "mental disorders" showed an increasing age-standardised YLL rate (14.5%).Conclusions: There was a clear trend towards improvement in the overall health status of the EU but with differences between countries. EU health policymakers need to address the burden of diseases, paying specific attention to causes such as mental disorders. There are many opportunities for mutual learning among otherwise similar countries with different patterns of disease

NEOTROPICAL CARNIVORES: a data set on carnivore distribution in the Neotropics

Mammalian carnivores are considered a key group in maintaining ecological health and can indicate potential ecological integrity in landscapes where they occur. Carnivores also hold high conservation value and their habitat requirements can guide management and conservation plans. The order Carnivora has 84 species from 8 families in the Neotropical region: Canidae; Felidae; Mephitidae; Mustelidae; Otariidae; Phocidae; Procyonidae; and Ursidae. Herein, we include published and unpublished data on native terrestrial Neotropical carnivores (Canidae; Felidae; Mephitidae; Mustelidae; Procyonidae; and Ursidae). NEOTROPICAL CARNIVORES is a publicly available data set that includes 99,605 data entries from 35,511 unique georeferenced coordinates. Detection/non-detection and quantitative data were obtained from 1818 to 2018 by researchers, governmental agencies, non-governmental organizations, and private consultants. Data were collected using several methods including camera trapping, museum collections, roadkill, line transect, and opportunistic records. Literature (peer-reviewed and grey literature) from Portuguese, Spanish and English were incorporated in this compilation. Most of the data set consists of detection data entries (n = 79,343; 79.7%) but also includes non-detection data (n = 20,262; 20.3%). Of those, 43.3% also include count data (n = 43,151). The information available in NEOTROPICAL CARNIVORES will contribute to macroecological, ecological, and conservation questions in multiple spatio-temporal perspectives. As carnivores play key roles in trophic interactions, a better understanding of their distribution and habitat requirements are essential to establish conservation management plans and safeguard the future ecological health of Neotropical ecosystems. Our data paper, combined with other large-scale data sets, has great potential to clarify species distribution and related ecological processes within the Neotropics. There are no copyright restrictions and no restriction for using data from this data paper, as long as the data paper is cited as the source of the information used. We also request that users inform us of how they intend to use the data