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BackgroundTherapeutic trials are now underway in genetic forms of frontotemporal dementia (FTD) but clinical outcome measures are limited. The two most commonly used measures, the Clinical Dementia Rating (CDR)+National Alzheimer’s Disease Coordinating Center (NACC) Frontotemporal Lobar Degeneration (FTLD) and the FTD Rating Scale (FRS), have yet to be compared in detail in the genetic forms of FTD.MethodsThe CDR+NACC FTLD and FRS were assessed cross-sectionally in 725 consecutively recruited participants from the Genetic FTD Initiative: 457 mutation carriers (77 microtubule-associated protein tau (MAPT), 187 GRN, 193 C9orf72) and 268 family members without mutations (non-carrier control group). 231 mutation carriers (51 MAPT, 92 GRN, 88 C9orf72) and 145 non-carriers had available longitudinal data at a follow-up time point.ResultsCross-sectionally, the mean FRS score was lower in all genetic groups compared with controls: GRN mutation carriers mean 83.4 (SD 27.0), MAPT mutation carriers 78.2 (28.8), C9orf72 mutation carriers 71.0 (34.0), controls 96.2 (7.7), p, publishedVersion

© 2021 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited., Objective: Although the presymptomatic stages of frontotemporal dementia (FTD) provide a unique chance to delay or even prevent neurodegeneration by early intervention, they remain poorly defined. Leveraging a large multicenter cohort of genetic FTD mutation carriers, we provide a biomarker-based stratification and biomarker cascade of the likely most treatment-relevant stage within the presymptomatic phase: the conversion stage. Methods: We longitudinally assessed serum levels of neurofilament light (NfL) and phosphorylated neurofilament heavy (pNfH) in the Genetic FTD Initiative (GENFI) cohort (n = 444), using single-molecule array technique. Subjects comprised 91 symptomatic and 179 presymptomatic subjects with mutations in the FTD genes C9orf72, GRN, or MAPT, and 174 mutation-negative within-family controls. Results: In a biomarker cascade, NfL increase preceded the hypothetical clinical onset by 15 years and concurred with brain atrophy onset, whereas pNfH increase started close to clinical onset. The conversion stage was marked by increased NfL, but still normal pNfH levels, while both were increased at the symptomatic stage. Intra-individual change rates were increased for NfL at the conversion stage and for pNfH at the symptomatic stage, highlighting their respective potential as stage-dependent dynamic biomarkers within the biomarker cascade. Increased NfL levels and NfL change rates allowed identification of presymptomatic subjects converting to symptomatic disease and capture of proximity-to-onset. We estimate stage-dependent sample sizes for trials aiming to decrease neurofilament levels or change rates. Interpretation: Blood NfL and pNfH provide dynamic stage-dependent stratification and, potentially, treatment response biomarkers in presymptomatic FTD, allowing demarcation of the conversion stage. The proposed biomarker cascade might pave the way towards a biomarker-based precision medicine approach to genetic FTD., W. and M.S. are members of the European Reference Network for Rare Neurological Diseases Project ID No. 739510. This work was supported by the Horizon 2020 research and innovation program (grant 779257 Solve-RD to M.S.), the National Ataxia Foundation (grant to C.W. and M.S.), the Wilhelm Vaillant Stiftung (grant to C.W.), the EU Joint Programme – Neurodegenerative Disease Research (JPND) “GENFI-prox” through participating national funding agencies (by DLR/BMBF to M.S., J.D.R., B.B., C.G., and M.O.), and the European Union's Horizon 2020 research and innovation programme under grant agreement No. 643417. J.C.S. and H.S. received funding by two Memorabel grants from Deltaplan Dementie (The Netherlands Organisation for Health Research and Development and Alzheimer Nederland; grant numbers 733050813 and 733050103) in the Netherlands and the Bluefield Project to Cure Frontotemporal Dementia. J.B.R. was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014) and the Medical Research Council (SUAG/051 G101400). C.B. is supported by a postdoctoral fellowship from the Swiss National Science Foundation (P400PM_191077). J.D.R. is supported by the Miriam Marks Brain Research UK Senior Fellowship and has received funding from an MRC Clinician Scientist Fellowship (MR/M008525/1) and the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Bluefield Project and the JPND GENFI-PROX grant (2019-02248).

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ., Introduction: Structural brain imaging is paramount for the diagnosis of behavioural variant of frontotemporal dementia (bvFTD), but it has low sensitivity leading to erroneous or late diagnosis. Methods: A total of 515 subjects from two different bvFTD cohorts (training and independent validation cohorts) were used to perform voxel-wise morphometric analysis to identify regions with significant differences between bvFTD and controls. A random forest classifier was used to individually predict bvFTD from deformation-based morphometry differences in isolation and together with semantic fluency. Tenfold cross validation was used to assess the performance of the classifier within the training cohort. A second held-out cohort of genetically confirmed bvFTD cases was used for additional validation. Results: Average 10-fold cross-validation accuracy was 89% (82% sensitivity, 93% specificity) using only MRI and 94% (89% sensitivity, 98% specificity) with the addition of semantic fluency. In the separate validation cohort of definite bvFTD, accuracy was 88% (81% sensitivity, 92% specificity) with MRI and 91% (79% sensitivity, 96% specificity) with added semantic fluency scores. Conclusion: Our results show that structural MRI and semantic fluency can accurately predict bvFTD at the individual subject level within a completely independent validation cohort coming from a different and independent database., Data collection and sharing for this project was funded by the Frontotemporal Lobar Degeneration Neuroimaging Initiative (National Institutes of Health Grant R01 AG032306). The study is coordinated through the University of California, San Francisco, Memory and Aging Center. FTLDNI data are disseminated by the Laboratory for Neuro Imaging at the University of Southern California. Brain scan acquisition at the McConnell Brain Imaging was supported by the Brain Canada Foundation with support from Health Canada and the Canada Foundation for Innovation (CFI Project 34874). This work was supported by Italian Ministry of Health (CoEN015 and Ricerca Corrente).

© The Author(s). 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data., Background: Although social cognitive dysfunction is a major feature of frontotemporal dementia (FTD), it has been poorly studied in familial forms. A key goal of studies is to detect early cognitive impairment using validated measures in large patient cohorts. Methods: We used the Revised Self-Monitoring Scale (RSMS) as a measure of socioemotional sensitivity in 730 participants from the genetic FTD initiative (GENFI) observational study: 269 mutation-negative healthy controls, 193 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers. All participants underwent the standardised GENFI clinical assessment including the 'CDR® plus NACC FTLD' scale and RSMS. The RSMS total score and its two subscores, socioemotional expressiveness (EX score) and modification of self-presentation (SP score) were measured. Volumetric T1-weighted magnetic resonance imaging was available from 377 mutation carriers for voxel-based morphometry (VBM) analysis. Results: The RSMS was decreased in symptomatic mutation carriers in all genetic groups but at a prodromal stage only in the C9orf72 (for the total score and both subscores) and GRN (for the modification of self-presentation subscore) groups. RSMS score correlated with disease severity in all groups. The VBM analysis implicated an overlapping network of regions including the orbitofrontal cortex, insula, temporal pole, medial temporal lobe and striatum. Conclusions: The RSMS indexes socioemotional impairment at an early stage of genetic FTD and may be a suitable outcome measure in forthcoming trials., The Dementia Research Centre is supported by Alzheimer’s Research UK, Brain Research Trust and The Wolfson Foundation. This work was supported by the NIHR Queen Square Dementia Biomedical Research Unit, the NIHR UCL/H Biomedical Research Centre and the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility as well as an Alzheimer’s Society grant [AS-PG-16-007]. This work was also supported by the MRC UK GENFI grant [MR/M023664/1], the Italian Ministry of Health (CoEN015 and Ricerca Corrente) and the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, a Canadian Institutes of Health Research operating grant, The Bluefield Project and the JPND GENFI-PROX grant [2019-02248]. JDR is supported by an MRC Clinician Scientist Fellowship [MR/M008525/1] and has received funding from the NIHR Rare Disease Translational Research Collaboration [BRC149/NS/MH], the Bluefield Project and the Association for Frontotemporal Degeneration. MB is supported by a Fellowship award from the Alzheimer’s Society, UK [AS-JF-19a-004-517]. JBR is supported by the Wellcome Trust [103838], the Medical Research Council and NIHR Cambridge Biomedical Research Centre. This work was also funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy within the framework of the Munich Cluster for Systems Neurology [EXC 2145 SyNergy – ID 390857198]. Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510.

© 2021 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/), Background: Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations have also identified early deep grey matter volume loss, little is known about the extent of subcortical involvement, particularly within subregions, and how this differs between genetic groups. Methods: 480 mutation carriers from the Genetic FTD Initiative (GENFI) were included (198 GRN, 202 C9orf72, 80 MAPT), together with 298 non-carrier cognitively normal controls. Cortical and subcortical volumes of interest were generated using automated parcellation methods on volumetric 3 T T1-weighted MRI scans. Mutation carriers were divided into three disease stages based on their global CDR® plus NACC FTLD score: asymptomatic (0), possibly or mildly symptomatic (0.5) and fully symptomatic (1 or more). Results: In all three groups, subcortical involvement was seen at the CDR 0.5 stage prior to phenoconversion, whereas in the C9orf72 and MAPT mutation carriers there was also involvement at the CDR 0 stage. In the C9orf72 expansion carriers the earliest volume changes were in thalamic subnuclei (particularly pulvinar and lateral geniculate, 9-10%) cerebellum (lobules VIIa-Crus II and VIIIb, 2-3%), hippocampus (particularly presubiculum and CA1, 2-3%), amygdala (all subregions, 2-6%) and hypothalamus (superior tuberal region, 1%). In MAPT mutation carriers changes were seen at CDR 0 in the hippocampus (subiculum, presubiculum and tail, 3-4%) and amygdala (accessory basal and superficial nuclei, 2-4%). GRN mutation carriers showed subcortical differences at CDR 0.5 in the presubiculum of the hippocampus (8%). Conclusions: C9orf72 expansion carriers show the earliest and most widespread changes including the thalamus, basal ganglia and medial temporal lobe. By investigating individual subregions, changes can also be seen at CDR 0 in MAPT mutation carriers within the limbic system. Our results suggest that subcortical brain volumes may be used as markers of neurodegeneration even prior to the onset of prodromal symptoms., This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Italian Ministry of Health (CoEN015 and Ricerca Corrente), the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, a Canadian Institutes of Health Research operating grant, the Alzheimer's Society grant (AS-PG-16-007), the Bluefield Project and the JPND GENFI-PROX grant (2019-02248). MB is supported by a Fellowship award from the Alzheimer’s Society, UK (AS-JF-19a-004-517). MB’s work was also supported by the UK Dementia Research Institute which receives its funding from DRI Ltd, funded by the UK Medical Research Council, Alzheimer’s Society and Alzheimer’s Research UK. MB acknowledges the support of NVIDIA Corporation with the donation of the Titan V GPU used for part of the analyses in this research. JDR is an MRC Clinician Scientist (MR/M008525/1) and has received funding from the NIHR Rare Diseases Translational Research Collaboration (BRC149/NS/MH), the Bluefield Project and the Association for Frontotemporal Degeneration. JEI is supported by the European Research Council (Starting Grant 677697, project BUNGEE-TOOLS), Alzheimer’s Research UK (ARUK-IRG2019A003) and NIH 1RF1MH123195-01. JBR is funded by the Wellcome Trust (103838) and the National Institute for Health Research Cambridge Biomedical Research Centre. This work was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy within the framework of the Munich Cluster for Systems Neurology (EXC 2145 SyNergy – ID 390857198). Several authors of this publication (JCvS, MS, RSV, AD, MO, JDR) are members of the European Reference Network for Rare Neurological Diseases (ERN-RND) - Project ID No 739510.

© 2021 The Authors. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring published by Wiley Periodicals, LLC on behalf of Alzheimer's Association. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made., Introduction: We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT). Methods: The FCSRT was administered in 417 presymptomatic and symptomatic mutation carriers (181 chromosome 9 open reading frame 72 [C9orf72], 163 progranulin [GRN], and 73 microtubule-associated protein tau [MAPT]) and 290 controls. Group differences and correlations with other neuropsychological tests were examined. We performed voxel-based morphometry to investigate the underlying neural substrates of the FCSRT. Results: All symptomatic mutation carrier groups and presymptomatic MAPT mutation carriers performed significantly worse on all FCSRT scores compared to controls. In the presymptomatic C9orf72 group, deficits were found on all scores except for the delayed total recall task, while no deficits were found in presymptomatic GRN mutation carriers. Performance on the FCSRT correlated with executive function, particularly in C9orf72 mutation carriers, but also with memory and naming tasks in the MAPT group. FCSRT performance also correlated with gray matter volumes of frontal, temporal, and subcortical regions in C9orf72 and GRN, but mainly temporal areas in MAPT mutation carriers. Discussion: The FCSRT detects presymptomatic deficits in C9orf72- and MAPT-associated FTD and provides important insight into the underlying cause of memory impairment in different forms of FTD., The Dementia Research Centre is supported by Alzheimer's Research UK, Alzheimer's Society, Brain Research UK, and The Wolfson Foundation. This work was supported by the NIHR UCL/H Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society, and Alzheimer's Research UK. J. D. Rohrer is supported by an MRC Clinician Scientist Fellowship (MR/M008525/1) and has received funding from the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). This work was also supported by the MRC UK GENFI grant (MR/M023664/1); the Bluefield Project; the JPND GENFI-PROX grant (2019-02248); the Dioraphte Foundation (grant numbers 09-02-00); the Association for Frontotemporal Dementias Research Grant 2009; The Netherlands Organization for Scientific Research (NWO; grant HCMI 056-13-018); ZonMw Memorabel (Deltaplan Dementie, project numbers 733 050 103 and 733 050 813); JPND PreFrontAls consortium (project number 733051042). J. M. Poos is supported by a Fellowship award from Alzheimer Nederland (WE.15-2019.02). This work was conducted using the MRC Dementias Platform UK (MR/L023784/1 and MR/009076/1). Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510.

In developing countries, markets are the main supply of horticultural products to populations, but this can pose a public health challenge due to the risk of the fecal-oral transmission of gut pathogens. This transmission is strongly associated with inadequate public sanitation or low standards of personal and domestic hygiene, and their prevalence can cause gastrointestinal diseases, which are the third leading cause of death in Mozambique. This study aims at assessing the risk for public health of horticultural products supply chain, from the farmers-vendors to the consumers, in municipal markets in Maputo-City, Mozambique. Surveys (75) were conducted on vendors and an observational analysis was performed in the markets under study. The results showed that 62% of the vendors had access to water from boreholes or artisanal sources and the issue “access to water” was significantly different between markets (p = 0.004). Of the vendors who wash their products (53.3%), only 7.5% use tap-water for this purpose, with the difference in attitudes being statistically significant between vendors in the markets (p = 0.035). The majority (60.4%) said that vegetables and fruits can cause diseases due to pesticides and only 31.3% believe that the diseases may be related to poor hygiene. Despite the vendors’ low knowledge of Good Hygiene Practices (GHP), we noticed that women have better practical assimilation of GHP when compared to men (p = 0.008). Although Maputo’s markets are struggling to achieve quality hygiene standards in a reliable and sustainable manner, their resources are limited and significantly different (p = 0.044) from market to market, and this problem remains a concern for the public-health authorities of the city. In conclusion, the provision of adequate drinking water and sewage disposal systems, together with education for health of vendors, can reduce the risk of contamination of fresh food by the more common organisms causing diarrhea in children, including intestinal parasites. publishersversion published

Rhipicephalus ticks are competent vectors of several pathogens, such as Spotted Fever Group Rickettsiae (SFGR) and many Babesia species. Within this genus, different R. sanguineus s.l. lineages show an unequal vector competence and resistance regarding some pathogenic strains. Current literature supports that tick endosymbionts may play an essential role in the transmission ability of a vector. Indeed, the microbial community of Rhipicephalus seems to be dominated by Coxiella-like endosymbionts. Still, their co-evolutionary associations with the complicated phylogeny of Rhipicephalus lineages and their transmissible pathogens remain unclear. We performed a phylogenetic congruence analysis to address whether divergent R. sanguineus s.l. lineages had a different symbiont composition, which can ultimately affect their vectorial potential. For that, we applied a PCR based approach to screen part of the microbial community present in 279 Rhipicephalus ticks from the Iberian Peninsula and Africa. Our analyses detected several qPCR-positive signals for both SFGR and Babesia species, of which we suggest R. sanguineus-tropical lineage as a natural vector of Babesia vogeli and R. sanguineus-temperate lineage of SFGR. However, only the acquisition of 190 Coxiella-like endosymbionts sequences allowed us to evaluate co-phylogenetic associations between the tick and a symbiont. With this data, we observed a strong but incomplete co-evolutionary pattern between CLE strains and their Rhipicephalus tick lineages hosts. These results support a complex co-evolutionary differentiation within the main endosymbionts of Rhipicephalus ticks, which need to be studied further to clarify its implication on the different vector competence shown by Rhipicephalus tick lineages.

A crescente procura na aviação comercial em determinados picos operacionais, as avarias inusitadas e as operações charter Ad-hoc, fazem com que as empresas tenham necessidade de procura de aluguer de aeronaves a operadores de aviação. Por vezes deparam-se com dificuldades em encontrar aeronaves disponíveis para realizar o serviço ou simplesmente para que não haja custos acrescidos de aquisição, manutenção e de certo prejuízo em época baixa de operacionalidade, preferem não fazer aquisição de aeronaves de reserva capazes de fazer cobertura para todas as exigências operacionais, ou simplesmente, porque o seu tipo de negócio não abrange a inclusão de compra de aeronaves e preferem recorrência ao aluguer. As empresas de aviação não regular que conseguem colmatar esta carência necessitam ter uma preparação logística atempada. Assim, com este trabalho pretende-se fazer a predição da próxima tipologia operacional, do modelo de aeronave que será procurado e a consequente tripulação necessária para préstimo de serviço a bordo. A capacidade de preparação com antecedência na resposta operacional ao cliente, adequar o leque de oferta de aviões à procura e a existência de tripulação adequada às necessidades operacionais adjacentes, permite prestar um serviço de qualidade, melhoria da capacidade de resposta e melhoria de organização interna empresarial. Com esta dissertação pretende-se encontrar modelos de predição com auxílio a aprendizagem automática, aprendizagem automática com recurso a séries temporais e RNN – LSTM (Recurrent Neural Network - Long Short Memory Term), encontrando assim entre estes o modelo mais adequado a permitir fazer predição. Para a aplicação destas técnicas, foram utilizados os dados de gestão de tripulação e dados de planeamento de aeronaves, onde foi possível encontrar modelação adequada à predição da tipologia operacional, com ANN de classificação, para a modelação para determinação dos modelos de aeronaves, os melhores resultados obtidos foram com Árvores de Decisão de classificação e de tripulação, foi determinado com algumas dificuldades com ANN de regressão, a escolha recaiu na melhor performance. Growing demand in commercial aviation at certain time of operational peaks, facing maintenance problems as AOG (aircraft on ground) and the procurement for Ad-hoc charter operations, means that companies need to seek aircraft leasing from other aviation operators. Sometimes comercial airlines face some difficulties to find available aircrafts to perform their flights or simply to avoid additional costs of acquisition, maintenance and some losses in low peak operating times, instead they prefer not to purchase but rent aircraft capable of covering all operational requirements, or even simply because their type of business does not include the purchase of aircraft and prefer recurrence to rental. The non-scheduled aviation companies that can fill this gap need to have in advance a logistic preparation, thus, with this work, is intend to predict the next type of operation, the aircraft model to be searched and the convenient crew required for service on board. Pre-operational customer adequate response, matching the range of aircraft model supply to demand, and adequate number of crew to the consequent operational requirements, enables quality service, responsiveness improvement and higher internal business organization. This dissertation aims to find prediction models with the aid of machine learning, machine learning with time series and deep learning RNN - LSTM (Long Term Memory Term), finding amongest them the most suitable model to make predictions. To apply those techniques, crew management data and aircraft planning data were used, where it was possible to find appropriate modeling to predict the operational typology, with ANN classification, to predict the aircraft models, the best results were obtained with Decision Trees classification, and the necessary crew, it was determined with regression ANN, the choice was done having in mind the best performance of each model.

Cattle imported from the Iberian Peninsula spread throughout America in the early years of discovery and colonization to originate Creole breeds, which adapted to a wide diversity of environments and later received infuences from other origins, including zebu cattle in more recent years. We analyzed uniparental genetic markers and autosomal microsatellites in DNA samples from 114 cattle breeds distributed worldwide, including 40 Creole breeds representing the whole American continent, and samples from the Iberian Peninsula, British islands, Continental Europe, Africa and American zebu. We show that Creole breeds difer considerably from each other, and most have their own identity or group with others from neighboring regions. Results with mtDNA indicate that T1c-lineages are rare in Iberia but common in Africa and are well represented in Creoles from Brazil and Colombia, lending support to a direct African infuence on Creoles. This is reinforced by the sharing of a unique Y-haplotype between cattle from Mozambique and Creoles from Argentina. Autosomal microsatellites indicate that Creoles occupy an intermediate position between African and European breeds, and some Creoles show a clear Iberian signature. Our results confrm the mixed ancestry of American Creole cattle and the role that African cattle have played in their development., Este trabajo tiene una enmienda, a la que puede accederse haciendo clic en el primer enlace de "Documentos relacionados"., Facultad de Ciencias Veterinarias

© 2019 The Authors The presymptomatic phase of neurodegenerative diseases are characterized by structural brain changes without significant clinical features. We set out to investigate the contribution of functional network resilience to preserved cognition in presymptomatic genetic frontotemporal dementia. We studied 172 people from families carrying genetic abnormalities in C9orf72, MAPT, or PGRN. Networks were extracted from functional MRI data and assessed using graph theoretical analysis. We found that despite loss of both brain volume and functional connections, there is maintenance of an efficient topological organization of the brain's functional network in the years leading up to the estimated age of frontotemporal dementia symptom onset. After this point, functional network efficiency declines markedly. Reduction in connectedness was most marked in highly connected hub regions. Measures of topological efficiency of the brain's functional network and organization predicted cognitive dysfunction in domains related to symptomatic frontotemporal dementia and connectivity correlated with brain volume loss in frontotemporal dementia. We propose that maintaining the efficient organization of the brain's functional network supports cognitive health even as atrophy and connectivity decline presymptomatically.

Estudos atuais evidenciam que o sofrimento emocional e as emoções negativas desencadeiam o aumento da ingesta alimentar e diminuem a agradabilidade da comida principalmente em indivíduos com elevado Índice de Massa Corporal (IMC), o que pode ser explicado, como um modo inconsciente de aliviar o sofrimento. Indivíduos com Perturbações do Comportamento Alimentar apresentam igualmente dificuldades de expressão emocional, caracterizando-se pela dificuldade de distinguir e descrever as próprias emoções. Os objetivos deste trabalho de investigação passam por conhecer a relação entre o IMC e a Regulação emocional. Este é um estudo exploratório, quantitativo, com dados coletados em prática clínica de Nutrição no Norte e Centro de Portugal. O Instrumento de recolha de dados foi o questionário sociodemográfico e dados antropométricos e a Escala de Dificuldades de Regulação Emocional (EDRE) traduzida e validada para a população portuguesa. Foram recolhidos 33 questionários dos quais 90,9% (N=30) pertencentes a género feminino e 9,1% (N=3) ao género masculino, com idades compreendidas entre os 18 e os 58 anos. No referente à categorização do IMC constata-se que 33,3% dos participantes apresentavam normopeso; 33,3% apresentavam excesso de peso; 27,3% apresentavam obesidade Grau I e 3,1% apresentavam Obesidade Grau II e III. No que concerne à análise descritiva do instrumento EDRE, cujas variáveis se expressam através de uma escala de Lickert (1=quase nunca e 5=quase sempre). A análise descritiva revela os seguintes valores para os diferentes domínios, respetivamente: Falta de Consciência Emocional (M=3,85; DP=1,25); Falta de Clareza Emocional (x=2,78; DP=1,60); seguidamente, Dificuldades no Controlo de Impulsos (x=2,59; DP= 1,51); Dificuldades em Agir de Acordo com os Objetivos (M=2,59; DP= 1,46); Não aceitação das Respostas Emocionais (x= 2,48; DP= 1,48); e finalmente, com a frequência mais baixa, o Acesso Limitado as Estratégias de Regulação (x=2,36; DP=1,44). Os resultados preliminares do estudo, além de revelarem que os participantes sentem com frequência Falta de Consciência Emocional, e dificuldades em gestão emocional, considera-se pertinente a divulgação de ações em Educação Emocional nesta população, em especial, na população que apresenta alterações do comportamento alimentar. info:eu-repo/semantics/publishedVersion

A obesidade é apontada como a epidemia do Século XXI. É caracterizada como uma patologia multifatorial, envolvendo não só fatores genéticos, metabólicos mas também culturais, sociais, religiosos, comportamentais, entre outros. O comportamento alimentar envolve não só o ato da ingesta alimentar, mas também fatores psicossociais, culturais e emocionais. Por detrás da obesidade, existem uma série de comportamentos, que desencadeiam a ingestão excessiva de comida e o aumento do Índice de Massa Corporal (IMC), sendo: os fatores externos, como o cheiro e a apresentação da comida; a restrição alimentar, a ingesta de alimentos em excesso após períodos de abstinência; a ingestão por fome emocional, emoções negativas e carência efetiva. Estes fenómenos em conjunto desencadeiam um aumento de ingesta alimentar onde a comida é vista como fonte de prazer. Assim, os objetivos deste trabalho passam por conhecer a relação entre o IMC e os três domínios do Comportamento Alimentar (Ingestão Emocional, Restrição Alimentar, Ingestão Externa). Foi realizado um estudo exploratório de caracter quantitativo. Os dados foram coletados em prática clínica de Nutrição, no Norte e Centro de Portugal. O Instrumento de recolha de dados foi um questionário sociodemográfico com recolha de dados antropométricos e o Questionário Holandês do Comportamento Alimentar (QHCA) traduzido e validado para a população portuguesa, cujas variáveis se expressam através de uma escala de Lickert (1=nunca e 5=muito frequente). Foram recolhidos questionários de 33 respondentes, dos quais 90,9% (N=30) são do género feminino e 9,1% (N=3) ao género masculino, com idades compreendidas entre os 18 e os 58 anos. No referente à categorização do IMC constatou-se que 33,3% dos participantes apresentavam normopeso; 33,3% apresentavam excesso de peso; 27,3% apresentavam obesidade Grau I e ainda 3,1% apresentavam Obesidade Grau II e III. No que concerne à análise descritiva do instrumento QHCA foram obtidos os seguintes valores para os três diferentes domínios: Restrição Alimentar (X=3,50; DP=1,13), Ingestão Externa (X=2,65; DP=1,12), Ingestão Emocional (X=2,39; DP= 1,41). Com base nestes resultados preliminares do estudo, e nesta amostra inicial, pôde verificar-se que os participantes recorrem com mais frequência à Restrição Alimentar, seguindo-se a Ingestão Externa e por fim a Ingestão Emocional. info:eu-repo/semantics/publishedVersion

Mestrado, Enfermagem Comunitária, 2014, Escola Superior de Enfermagem de Lisboa O consumo de álcool entre os adolescentes constitui um problema de saúde pública que carece da atenção de profissionais de saúde com intervenção comunitária, nomeadamente dos enfermeiros especialistas em enfermagem comunitária, na medida em que acarreta significantes problemas a nível individual, familiar e social. O consumo de álcool na adolescência traz uma dupla preocupação para os profissionais de saúde, por um lado devido à imaturidade do organismo, e por outro a evidência cientifica permite afirmar que quanto mais precoce o início deste consumo maior o risco da existência de problemas ligados ao álcool no futuro. Atendendo à magnitude e à multicausalidade deste problema torna-se necessário que na sua intervenção exista o envolvimento do indivíduo, família e comunidade. O enfermeiro especialista em enfermagem comunitária tem um papel primordial no desenvolvimento de estratégias de intervenção direcionadas à educação para o consumo de álcool, com especial foco na promoção de saúde. O presente relatório visa descrever e analisar as diferentes etapas de um estágio em que se implementou um projeto de intervenção comunitária que teve como objetivo sensibilizar os adolescentes do 8º ano de uma Escola com 3º ciclo do Concelho de Palmela, para os malefícios do uso/abuso de álcool, contribuindo para a sua capacitação, para que possam tomar uma decisão de forma consciente e responsável. Pretendeu-se através do processo de elaboração e implementação deste projeto desenvolver competências comuns e especificas de enfermeira especialista em enfermagem comunitária e contribuir para o desenvolvimento de estratégias promotoras de saúde relativamente ao consumo de álcool. Utilizou-se como Metodologia o Processo de Planeamento em Saúde, segundo Imperatori e Giraldes (1993) e Tavares (1990), e o Modelo de Promoção da Saúde de Nola Pender (Pender, Murdaugh e Parsons, 2011) como referencial teórico. Na fase de diagnóstico de situação, o instrumento de colheita de dados foi constituído pelo Questionário de Conhecimentos do Álcool, desenvolvido por Barroso, T; Barbosa, A. E Mendes, A (2006), constituído por 40 afirmações com possibilidade de resposta dicotómica verdadeiro ou falso, e um Questionário de caracterização, construído para este fim, que inclui as características sociodemográficas, bem como as experiências anteriores e atuais ao nível do consumo de álcool. A análise e tratamento dos dados foram efetuados através do Programa Microsoft Office Excel 2007. Os resultados revelaram que a média de idade de início de consumo é ligeiramente mais precoce que a média nacional, contudo o padrão de consumo de álcool é compatível com o que é descrito na literatura. Relativamente ao Questionário de Conhecimentos do Álcool os resultados obtidos revelam a existência de lacunas graves ao nível dos conhecimentos sobre o álcool os quais, podem ser potenciadores para o uso/abuso do álcool. As estratégias implementadas fundamentam-se nas teorias de promoção da saúde e educação para saúde. Segundo Precioso (2004) este tipo de abordagem é primordial junto dos adolescentes os quais se encontram em fase de desenvolvimento físico, mental e social e que ainda não tiveram, muitas vezes, oportunidade de adquirir hábitos insanos, sendo mais recetivos à aprendizagem de hábitos e assimilação de conhecimentos. Para tal, realizaram-se três sessões de educação para a saúde tendo como grupo alvo os adolescentes, onde se abordaram diversos conhecimentos úteis acerca do álcool por forma a contribuir para a sua capacitação para que consigam tomar uma decisão responsável e consciente face ao consumo de álcool. Simultaneamente foram trabalhadas algumas competências e estratégias protetoras e promotoras de saúde através de diferentes técnicas de dinâmica de grupos como o role-play, jogos entre outras. A avaliação realizada mostra a consecução dos objetivos, através dos indicadores definidos, com possibilidade de continuidade do trabalho realizado nomeadamente o facto da existência de um trabalho de parceria com a equipa de saúde escolar o que vai permitir o acompanhamento destes adolescentes até ao 12º ano e consequentemente avaliar a existência de possíveis ganhos em saúde com esta intervenção. Todo este processo contribuiu para o desenvolvimento de competências comuns e especificas de enfermeiro especialista inicialmente propostas

Dissertação apresentada ao Instituto Politécnico de Castelo Branco para cumprimento dos requisitos necessários à obtenção do grau de Mestre em Educação Pré-Escolar e Ensino do 1.º Ciclo do Ensino Básico. No âmbito da Prática Supervisionada foi realizado este relatório de estágio, que está incluído no 1.º semestre do 2.º ano do Mestrado em Educação Pré-escolar e Ensino do 1.º Ciclo do Ensino Básico da Escola Superior de Educação de Castelo Branco. Esta prática auxiliou-nos bastante no desenvolvimento de competências e na aquisição de capacidades para lidar com crianças com idades compreendidas entre os seis e os sete anos. Na finalização desta, decorreram as atividades que tiveram o intuito de desenvolver o sentido de justiça e injustiça nas crianças, tema que irá ser abordado neste relatório de estágio. Este estudo procurou ativar o conhecimento prévio e promover o desenvolvimento dos conceitos de justiça/injustiça num grupo de crianças do 1.º ciclo do ensino básico. A recolha de dados fez-se através da observação participante, das notas de campo e de questionários às crianças. Esta técnica teve como base a metodologia de estudo de caso. A turma que esteve em estudo, como se poderá observar na análise de dados, demonstrou uma grande capacidade em analisar os conceitos de justiça e injustiça em situações apresentadas através de contos tradicionais e a sua transposição para situações do quotidiano.

Dissertação de Mestrado apresentada à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Ciências da Comunicação. O mercado farmacêutico tem sido alvo de especial atenção, nos últimos anos, particularmente na área da comunicação. No contexto do Marketing Farmacêutico, a divulgação e a promoção de medicamentos sujeitos a receita médica recorre a uma variedade de suportes que envolvem não só a imprensa especializada dirigida à comunidade médica como as literaturas de apoio aos delegados e os brindes promocionais. Esta tese, examinará os meios de comunicação usados pela Indústria Farmacêutica para divulgar e promover os medicamentos sujeitos a receita médica junto do médico. Para isso tentou-se compreender, sistematizar e descrever o processo de comunicação da indústria farmacêutica e analisar a atitude dos médicos face à comunicação, cruzando a sua atitude com a dos profissionais de marketing e vendas dos laboratórios. Numa primeira parte, é apresentada a revisão bibliográfica efectuada sobre a história da indústria farmacêutica em Portugal, características do mercado actual e os diferentes aspectos que envolvem a comunicação farmacêutica, passando pelos seus intervenientes, meios mensagens promocionais utilizadas. Numa segunda parte, é apresentado o trabalho empírico, em que foram efectuadas 12 entrevistas em profundidade a médicos e profissionais de maketing e vendas. O cruzamento dos resultados das entrevistas permitiu analisar a atitude dos médicos face às técnicas de comunicação usadas pela indústria farmacêutica para promover medicamentos sujeitos a receita médica e compreender ambos os lados do processo de comunicação.

Funder: Alzheimer Society of Canada; Id: http://dx.doi.org/10.13039/501100000143, Funder: Weston Brain Institute; Id: http://dx.doi.org/10.13039/100012479, Funder: Fonds de Recherche du Québec ‐ Santé, Funder: Canadian Institutes of Health Research; Id: http://dx.doi.org/10.13039/501100000024, Funder: NIHR Rare Diseases Translational Research Collaboration, Funder: Deutsche Forschungsgemeinschaft; Id: http://dx.doi.org/10.13039/501100001659, Recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (FTD) due to microtubule-associated protein tau (MAPT), progranulin (GRN) and chromosome 9 open reading frame 72 (C9orf72). However, the cerebello-subcortical circuitry in FTD has been understudied despite its essential role in cognition and behaviors related to FTD symptomatology. The present study aims to investigate the association between cerebellar and subcortical atrophy, and neuropsychiatric symptoms across genetic mutations. Our study included 983 participants from the Genetic Frontotemporal dementia Initiative including mutation carriers and noncarrier first-degree relatives of known symptomatic carriers. Voxel-wise analysis of the thalamus, striatum, globus pallidus, amygdala, and the cerebellum was performed, and partial least squares analyses (PLS) were used to link morphometry and behavior. In presymptomatic C9orf72 expansion carriers, thalamic atrophy was found compared to noncarriers, suggesting the importance of this structure in FTD prodromes. PLS analyses demonstrated that the cerebello-subcortical circuitry is related to neuropsychiatric symptoms, with significant overlap in brain/behavior patterns, but also specificity for each genetic mutation group. The largest differences were in the cerebellar atrophy (larger extent in C9orf72 expansion group) and more prominent amygdalar volume reduction in the MAPT group. Brain scores in the C9orf72 expansion carriers and MAPT carriers demonstrated covariation patterns concordant with atrophy patterns detectable up to 20 years before expected symptom onset. Overall, these results demonstrated the important role of the subcortical structures in genetic FTD symptom expression, particularly the cerebellum in C9orf72 and the amygdala in MAPT carriers.

Funder: CIBERNED, Funder: Canadian Institutes of Health Research; doi: http://dx.doi.org/10.13039/501100000024, Funder: Lemaire Family Foundation, Funder: Swedish Frontotemporal Dementia Initiative, Funder: Italian Ministry of Health, Funder: Weston Brain Institute; doi: http://dx.doi.org/10.13039/100012479, Funder: Mady Browaaeys Fund, Funder: Miriam Marks Brain Research UK, Funder: Bluefield Project, OBJECTIVE: To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). METHODS: Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72, GRN and MAPT mutations) and 310 mutation-negative controls. A standardised clinical questionnaire was used to assess eight motor symptoms (dysarthria, dysphagia, tremor, slowness, weakness, gait disorder, falls and functional difficulties using hands). Frequency and severity of each motor symptom was assessed, and a principal component analysis (PCA) was performed to identify how the different motor symptoms loaded together. Finally, addition of a motor component to the CDR® plus NACC FTLD was investigated (CDR® plus NACC FTLD-M). RESULTS: 24.3% of mutation carriers had motor symptoms (31.7% C9orf72, 18.8% GRN, 19.3% MAPT) compared to 6.8% of controls. Slowness and gait disorder were the commonest in all genetic groups while tremor and falls were the least frequent. Symptom severity scores were similar to equivalent physical motor examination scores. PCA revealed that all motor symptoms loaded together so a single additional motor component was added to the CDR® plus NACC FTLD to form the CDR® plus NACC FTLD-M. Individual global scores were more severe with the CDR® plus NACC FTLD-M, and no patients with a clinically diagnosed motor disorder (ALS/FTD-ALS or parkinsonism) were classified anymore as asymptomatic (unlike the CDR® plus NACC FTLD alone). CONCLUSIONS: Motor features are present in mutation carriers at all disease stages across all three genetic groups. Inclusion of motor symptoms in a rating scale that can be used in future clinical trials will not only ensure a more accurate severity measure is recorded but that a wider spectrum of FTD phenotypes can be included in the same trial.

Peer reviewed: True, Acknowledgements: We thank the research participants and their families for their contribution to the study. Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510., Funder: Bluefield Project, Funder: National Institute for Health Research Cambridge Biomedical Research Centre, BACKGROUND: Current clinical rating scales in frontotemporal dementia (FTD) often do not incorporate neuropsychiatric features and may therefore inadequately measure disease stage. METHODS: 832 participants from the Genetic FTD Initiative (GENFI) were recruited: 522 mutation carriers and 310 mutation-negative controls. The standardised GENFI clinical questionnaire assessed the frequency and severity of 14 neuropsychiatric symptoms: visual, auditory, and tactile hallucinations, delusions, depression, anxiety, irritability/lability, agitation/aggression, euphoria/elation, aberrant motor behaviour, hypersexuality, hyperreligiosity, impaired sleep, and altered sense of humour. A principal component analysis (PCA) was performed to identify key groupings of neuropsychiatric and behavioural items in order to create a new neuropsychiatric module that could be used as an addition to the Clinical Dementia Rating (CDR) plus National Alzheimer's Coordinating Center Behaviour and Language Domains (NACC FTLD) rating scale. RESULTS: Overall, 46.4% of mutation carriers had neuropsychiatric symptoms (51.6% C9orf72, 40.8% GRN, 46.6% MAPT) compared with 24.5% of controls. Anxiety and depression were the most common in all genetic groups but fluctuated longitudinally and loaded separately in the PCA. Hallucinations and delusions loaded together, with the remaining neuropsychiatric symptoms loading with the core behavioural features of FTD. These results suggest using a single 'psychosis' neuropsychiatric module consisting of hallucinations and delusions. Adding this to the CDR plus NACC FTLD, called the CDR plus NACC FTLD-N, leads to a number of participants being scored more severely, including those who were previously considered asymptomatic now being scored as prodromal. CONCLUSIONS: Neuropsychiatric symptoms occur in mutation carriers at all disease stages across all three genetic groups. However, only psychosis features provided additional staging benefit to the CDR plus NACC FTLD. Inclusion of these features brings us closer to optimising the rating scale for use in trials.

In developing countries such as Mozambique, markets are the main supplier of horticultural products to populations, but this can pose a public health challenge due to the risk of fecal-oral transmission of gastrointestinal pathogens. The transmission of gastrointestinal parasitic pathogens can occur through water, soil, and food such as contaminated fresh fruits and vegetables (when eaten raw/unwashed), shellfish, fish, and meat when improperly cooked. This transmission is associated to inadequate public sanitation and low standards of personal and community hygiene, resulting in gastrointestinal diseases, which are the third leading cause of mortality in Mozambique in children under 5 years of age. The objectives of this study are: to evaluate the occurrence of intestinal parasites, focusing on Giardia duodenalis, Cryptosporidium spp. and Enterocytozoon bieneusi in fresh horticultural products for human consumption; and analyze the supply chain, from the production zone to municipal markets. The analysis of the data obtained will enable the elaboration of suggestions for market management tools in order to improve their operation and prevent early contamination of fresh products in markets in the city of Maputo. In four (4) chapters, we intend: 1) to determine the degree of knowledge and attitude of vendors of fresh horticultural products and about the facilities and environment of the markets; 2) to investigate the occurrence of intestinal parasites in fresh horticultural products sold in Maputo city markets; 3) to characterize with molecular techniques G. duodenalis and E. bieneusi detected here; 4) to better understand the processes of the food supply chain (FSC) in Maputo city, and all the interactions of those involved in this chain until the product reaches the final consumer, and provide tools for efficient management. Eight (8) sampling sites were strategically chosen: two (2) supermarkets, five (5) municipal markets including the wholesale and one (1) producer zone, in dry and rainy seasons. To characterize the markets, their dynamics, vendors’ attitude and field knowledge, interviews, questionnaires and observational analysis were applied. Laboratory parasitological and molecular techniques were used to identify and characterize the parasites found in the analyzed samples. By microscopy, it was possible to identify Giardia duodenalis, Balantidium coli, Entamoeba histolytica, Blastocystis spp., Strongyloides stercoralis, Nematodes and helminths in general, and the commensal species of protozoa Chilomastix mesnili, Entamoeba coli, Endolimax nana and Iodamoeba bustchiili. By polymerase chain reaction (PCR) it was possible to detect DNA of G. duodenalis and Enterocytozoon bieneusi in 2.8% (9/321) and 1.3% (4/321) of the samples monitored, respectively. Cryptosporidium spp. was not identified or detected by any of the methodologies utilized. The molecular characterization of G. duodenalis resulted in four different sequences (three novel and one known) all from Assemblage B and, the molecular characterization of E. bieneusi revealed three different sequences (two novel and one known) belonging to group 1. The results of the molecular characterization, highlight the high potential for zoonotic transmission of pathogenic intestinal parasites, corroborating their potential role as a source of human infection and environmental contamination. This is the first time that intestinal parasites are characterized in fresh horticultural products in Maputo markets, in Mozambique. The results obtained in this study showed that while Maputo markets are struggling to achieve quality hygiene standards reliably and sustainably, their resources are limited and the attitude of vendors reflects their lack of knowledge in good hygiene practices (GHP). It also revealed a favorable environment for the occurrence of contamination of fresh products for sale by pathogenic intestinal parasites. This contamination is enhanced by the lack of clean and organized sanitary facilities, exposure to biological contaminants and poor conservation of fresh products, especially in the dry seasons, when the occurrence of parasites is higher. The lack of good hygiene practices (GHP) revealed by vendors and other operators in the different stages of the food supply chain (FSC) opens gaps in this system, leading to the maintenance of a deficient FSC and consequently unreliable for consumers. Thus, we suggest: a multisector management approach involving standardized procedures for each stage of the FSC; “one way” circuit of vehicles; better coordination for municipal entities; water supply system and sanitation improvements; processing map implementation; mandatory measures for hygiene on daily work; regular training in GHP. These measures will contribute to reducing the degree of contamination of food in the early stages and throughout the FSC process, resulting in safer and more reliable products, and minimizing the problems associated with public health. This is the first study on the contamination of horticultural products by intestinal parasites, for human consumption, in markets in Maputo, Mozambique, and points out steps towards understanding the causes of this contamination with the ultimate objective of its control and elimination. This study also opens new perspectives on the epidemiology and transmission routes of G. duodenalis and E. bieneusi in water, food and clinical areas. A better understanding of these intestinal parasitic organisms highlights the importance of monitoring the hygienic conditions to which agricultural products are exposed in markets in the Maputo region, as they can become a public health problem mainly for vulnerable people, such as children, pregnant women, the elderly and immunosuppressed. Finally, in the future it will be necessary to measure the performance of the implementation of the improvements proposed in this study. This measurement will provide information on the responsiveness to new processes after their application.