As repercussões do envelhecimento no membro inferior

O processo de envelhecimento é complexo, multifatorial e causa alterações no organismo a nível celular, molecular, orgânico e estrutural. Adicionalmente, é inegável o seu impacto também a nível social e psicológico. O pé é uma estrutura delicada, intricada e multifacetada, constituída por inúmeros ossos, ligamentos e músculos. O envelhecimento tem um impacto a nível de todas estas estruturas, tornando os pés mais frágeis, dolorosos e alterando o equilíbrio e a marcha. As estratégias para um envelhecimento saudável propostas pela Organização Mundial de Saúde reiteram a importância de investir numa melhoria da capacidade funcional. Neste capítulo abordaremos estratégias para cuidar dos seus pés e dicas para a realização de caminhadas em segurança do ponto de vista do Podologista (profissional de Saúde que estuda, previne, diagnostica e trata as alterações dos pés e as suas repercussões no corpo humano).The ageing process is complex, multifactorial, and causes changes in the body at the cellular, molecular, organic, and structural levels. Additionally, its impact on the social and psychological level is undeniable. The foot is a delicate, intricate, and multifaceted structured, made up of numerous bones, ligaments, and muscles. Ageing has an impact on all these structures, making the feet more fragile, painful, and changing balance and gait. Strategies for a healthy aging proposed by the World Health Organization stress the importance of improving functional ability. In this chapter, we will address strategies to care for your feet and provide tips for doing safe walks from the Podiatrist's perspective (a health professional who studies, prevents, diagnoses, and treats changes in the feet and their repercussions in the human body).info:eu-repo/semantics/publishedVersio

Processo de registo e depósito de dissertações no Politécnico de Leiria

A presente apresentação pretende descrever o processo de implementação do registo no Renates e depósito no Repositório IC-Online das dissertações de mestrado aprovadas no Instituto Politécnico de Leiria, na sequência da entrada em vigor do Decreto-Lei n.º 115/2013 de 7 de agosto. Após uma fase inicial de planeamento que envolveu vários serviços do Politécnico de Leiria, foi aprovado e implementado um processo de workflow que permitiu a agilização de todo o trabalho. Dois anos depois, o balanço deste processo é bastante positivo, uma vez que em três Escolas Superiores o trabalho retrospetivo se encontra totalmente concluído e, nas duas restantes, se prevê que fique concluído até final de 2018.info:eu-repo/semantics/publishedVersio

Uptake and distribution of cadmium and micronutrients by bean cultivars exposed to cadmium levels

Visando avaliar os efeitos de doses crescentes de cádmio em solução nutritiva sobre a absorção e a translocação de Cd, Zn, Fe, Mn e Cu por plantas de feijoeiro (Phaseolus vulgaris L.), foi montado um ensaio em casa de vegetação utilizando-se as cultivares Ouro Negro e Carioca. As doses de Cd utilizadas foram: 0,0; 0,025; 0,05; 0,10 e 0,50 μg/mL, aplicadas em vasos de 4,8 L contendo solução nutritiva de Clark com metade da força iônica original a pH 6,0. Verificou-se aumento na absorção de Cd com o aumento das doses do elemento em solução. As raízes acumularam maiores quantidades do metal que a parte aérea. As doses de Cd diminuíram os conteúdos de Zn e de Mn nas raízes de ambas as cultivares, sem afetar, na mesma proporção, a quantidade desses cátions na parte aérea das plantas. O conteúdo de Cu das plantas aparentemente não foi alterado pelas doses de Cd, com exceção de um pequeno aumento no conteúdo na raiz da cultivar Carioca, enquanto que o conteúdo de Fe foi significativamente alterado na raiz da cultivar Ouro Negro.To evaluate the effects of cadmium levels in nutrient solution on the uptake and distribution of Cd, Zn, Fe, Mn and Cu by bean plants (Phaseolus vulgaris L.), an experiment was carried out under greenhouse conditions, utilizing the cultivars Ouro Negro and Carioca. The Cd levels tested were: 0.0; 0.025; 0.05; 0.10 e 0.50 μg/mL applied in 4.8 L vases containing Clark nutritive solution with half the original ionic force at pH 6.0. For both cultivars, Cd contents in plants showed to increase with increased Cd levels in nutrient solution, with the roots accumulating more Cd than shoot. The Cd treatment resulted in decreased content of Zn and Mn in roots, with little or no effect on the contents of these elements in the shoot. The Cu contents in plants were apparently unaffected by the Cd levels in nutrient solution, except for the Cu content in roots of the Carioca cultivar. On the other hand, the Fe content was altered only in the roots of the Ouro Negro cultivar

Biomedical knowledge graph embeddings for personalized medicine: Predicting disease‐gene associations

Personalized medicine is a concept that has been subject of increasing interest in medical research and practice in the last few years. However, significant challenges stand in the way of practical implementations, namely in regard to extracting clinically valuable insights from the vast amount of biomedical knowledge generated in the last few years. Here, we describe an approach that uses Knowledge Graph Embedding (KGE) methods on a biomedical Knowledge Graph (KG) as a path to reasoning over the wealth of information stored in publicly accessible databases. We built a Knowledge Graph using data from DisGeNET and GO, containing relationships between genes, diseases and other biological entities. The KG contains 93,657 nodes of 5 types and 1,705,585 relationships of 59 types. We applied KGE methods to this KG, obtaining an excellent performance in predicting gene-disease associations (MR 0.13, MRR 0.96, HITS@1 0.93, HITS@3 0.99, and HITS@10 0.99). The optimal hyperparameter set was used to predict all possible novel gene-disease associations. An in-depth analysis of novel gene-disease predictions for disease terms related to Autism Spectrum Disorder (ASD) shows that this approach produces predictions consistent with known candidate genes and biological pathways and yields relevant insights into the biology of this paradigmatic complex disorder.Fundação para a Ciência e a Tecnologia, Grant/Award Numbers: SAICTPAC/0010/2015, POCI- 01-0145-FEDER-016428-PAC, EXPL/CCI-BIO/0126/2021, PTDC/MED-OUT/28937/2017, UIDP/04046/2020, UIDB/04046/2020; Fundo Europeu de Desenvolvimento Regional, Grant/Award Number: 022153info:eu-repo/semantics/publishedVersio

Distress among healthcare professionals during the first two years of COVID-19 pandemic in Portugal

The COVID-19 pandemic increased existing psychosocial risk factors among healthcare professionals (HCPs). Integrated into a wider project, the main objective of this study was to characterize Portuguese HCPs mental health (MH), estimate the percentage of symptoms of anxiety, depression, post-traumatic stress disorder (PTSD), and burnout, and identify risk and protective factors. Methods: A cross-sectional online survey and a longitudinal assessment were conducted in 2020 (T0) and 2021 (T1). Sociodemographic and occupational variables, as well as protection behaviors and pandemic-context data were collected from a large non-probabilistic sample of HCPs in Portugal. MH outcomes were assessed using instruments with sound psychometric properties. Risk and protective factors were evaluated through simple and multiple logistic regression models. Results: A total of 2027 HCPs participated in the survey in T0; 1843 in T1. Despite the percentage of moderate to severe symptoms had decreased from T0 to T1: 26.1% and 23.3% for anxiety (T0 and T1, respectively; p = 0.028), 25.3% and 23.7% for depression, 22.7% and 19.1% for PTSD (p = 0.003), and 29.8% to 29.5% for burnout, a considerable proportion of HCPs reported symptoms of distress in both years. Being a woman, working in a COVID-19-treatment frontline position and the perception of work-life imbalance increased the odds of distress (in both T0 and T1), whilst high resilience, good social/family support, and hobbies/lifestyle maintenance were found to be MH protective factors. Conclusions: The longitudinal approach of our study allowed following-up changes in HCPs mental health and show that performing as an HCP during the pandemic may result in long-term effects on MH. Our results also provide evidence to support interventions targeting gender and professional sub-groups. Further studies are needed to understand the potential long-lasting psychological burden related to COVID-19 among HCPs.N/

Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders

Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/36061363/Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we established a genetic similarity disease network approach to explore the shared genetics between ASD and frequent comorbid brain diseases (and subtypes), namely Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy, as well as other rarely co-occurring neuropsychiatric conditions in the Schizophrenia and Bipolar Disease spectrum. Using sets of disease-associated genes curated by the DisGeNET database, disease genetic similarity was estimated from the Jaccard coefficient between disease pairs, and the Leiden detection algorithm was used to identify network disease communities and define shared biological pathways. We identified a heterogeneous brain disease community that is genetically more similar to ASD, and that includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. To identify loss-of-function rare de novo variants within shared genes underlying the disease communities, we analyzed a large ASD whole-genome sequencing dataset, showing that ASD shares genes with multiple brain disorders from other, less genetically similar, communities. Some genes (e.g., SHANK3, ASH1L, SCN2A, CHD2, and MECP2) were previously implicated in ASD and these disorders. This approach enabled further clarification of genetic sharing between ASD and brain disorders, with a finer granularity in disease classification and multi-level evidence from DisGeNET. Understanding genetic sharing across disorders has important implications for disease nosology, pathophysiology, and personalized treatment.This research was supported by Fundação para a Ciência e a Tecnologia (UIDB/04046/2020 and UIDP/04046/2020 Center grants to BioISI), by PAC-POCI-01-0145-FEDER-016428 MEDPERSYST, by DeePer—Deep graph learning approaches to personalized medicine (EXPL/CCI-BIO/0126/2021), and by National Institute of Health Doutor Ricardo Jorge. JV, AM, and JS are recipients of a fellowship from BioSys PhD programme PD65-2012 (JV Ref: PD/BD/131390/2017; AM Ref: PD/BD/113773/2015; and JS Ref: PD/BD/114386/2016) from Fundação para a Ciência e a Tecnologia (Portugal).info:eu-repo/semantics/publishedVersio

Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder

This article belongs to the Special Issue mRNA Metabolism in Health and DiseaseAutism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay (NMD) pathway, may contribute to ASD risk. In this study, we gathered a list of 46 NMD factors and regulators and investigated the role of genetic variants in these genes in ASD. By conducting a comprehensive search for Single Nucleotide Variants (SNVs) in NMD genes using Whole Exome Sequencing data from 1828 ASD patients, we identified 270 SNVs predicted to be damaging in 28.7% of the population. We also analyzed Copy Number Variants (CNVs) from two cohorts of ASD patients (N = 3570) and discovered 38 CNVs in 1% of cases. Importantly, we discovered 136 genetic variants (125 SNVs and 11 CNVs) in 258 ASD patients that were located within protein domains required for NMD. These gene variants are classified as damaging using in silico prediction tools, and therefore may interfere with proper NMD function in ASD. The discovery of NMD genes as candidates for ASD in large patient genomic datasets provides evidence supporting the involvement of the NMD pathway in ASD pathophysiology.This research was supported by Fundação para a Ciência e a Tecnologia (UIDB/04046/2020 and UIDP/04046/2020 Centre grants to BioISI and PAC-POCI-01-0145-FEDER-016428 MEDPERSYST to A.M.V.) and by National Institute of Health Doutor Ricardo Jorge. A.R.M., J.V. and J.X.S. are recipients of a fellowship from BioSys PhD programme PD65-2012 (A.R.M. Ref: PD/BD/113773/2015; J.X.S. Ref: PD/BD/114386/2016; J.V. Ref: PD/BD/131390/2017) from Fundação para a Ciência e a Tecnologia (Portugal).info:eu-repo/semantics/publishedVersio

Mental Health in times of COVID-19: Policy Brief

The COVID-19 pandemic caused profound disruptive changes worldwide. Mental health (MH) and wellbeing (WB) have been particularly affected, namely with increased levels of anxiety, depression, post-traumatic stress disorder and burnout symptoms. Several factors can have contributed to individuals’ vulnerability, including perceived uncertainty, the strict measures adopted, the socioeconomic hardship and the direct effects of the virus. Although the pandemic is primarily a public health and a socioeconomic crisis, it could turn into a serious MH crisis with all the associated implications.Fundação para a Ciência e a Tecnologia (RESEARCH4COVID19 program and UID-DTP-04295-2013)N/

Healthcare professionals’ psychological distress, risk and protective mental health factors after two years of COVID-19 pandemic in Portugal

The COVID-19 pandemic increased psychosocial riskfactors among healthcare professionals (HCP). The main objective was to characterize Portuguese HCP’s mental health (MH) outcomes, estimating the percentage of symptoms of anxiety, depression, post-traumatic stress disorder (PTSD) and burnout, and identifying risk and protective factors.N/