National Institute of Health Dr. Ricardo Jorge
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Prova do Suor
Get PDFFolheto técnico sobre o diagnóstico laboratorial da fibrose quística através da prova do suor. A fibrose quística (FQ) é uma doença monogénica autossómica recessiva com risco de recorrência de 25% em cada
gravidez e resulta de uma mutação no gene que codifica a síntese de uma proteína transmembranar, Cystic Fibrosis
Transmembrane Conductance Regulator (CFTR), com funções de canal de cloreto. Em Portugal, a incidência de FQ
calculada é de 1/6000 novos casos de recém-nascidos, por ano.
A FQ é caraterizada por obstrução e infeção pulmonar crónica, insuficiência pancreática e obstrução intestinal,
infertilidade masculina e suor com níveis elevados de cloretos. O diagnóstico é baseado no fenótipo clínico associado
a duas ou mais provas do suor positivas e/ou pela presença de duas mutações no gene afetado. O teste laboratorial
de referência é a prova do suor, que se baseia na concentração elevada do ião cloreto no suor, tendo valor
diagnóstico em aproximadamente 98% dos casos.N/
Methodological challenges in collecting and analysing data on child unintentional injuries: Insights from the CHILD Vigilance project (CHIVI) on parents’ attitudes and practices
No full textResumo publicado em: European Journal of Public Health: Eur J Public Health. 2023 Oct; 33(Suppl 2): ckad160.449. https://doi.org/10.1093/eurpub/ckad160.449The CHILD Vigilance project is a European study supported by the Injury Prevention & Safety Promotion Section of the European Public Health Association (EUPHA INJ) and aims at assessing parenting knowledge and attitudes that are relevant to supervision and risk taking in children. For children the majority of these injuries occur in or around the home when their safety is the responsibility of a parent or other caregiver. There has been considerable speculation that inadequate supervision may be an important contributing factor for understanding childhood injuries. Research indicates that inadequate supervision is the most common preventable factor that leads to death. Evidence linking supervision directly to child injury risk, however, has proven difficult to obtain, largely because of the methodological challenges in measuring supervision.
The study aims contribute to the epidemiological knowledge of injuries and accidents in Greece and Portugal, through the study of the knowledge of the perceptions of parents and caregivers of children and adolescents between 0 and 14 years old.
A descriptive, observational, cross-sectional study was developed in these countries during the period from february till april 2023, under the CHILD Vigilance project, without external funding, developed at European level within the scope of the Injury Prevention & Safety Promotion Section of the European Public Health Association. The information was collected by survey, from parents' associations and schools in the EU countries represented in the EUPHA INJ Section.
A well-structured questionnaire was developed which was constituted by questions regarding parents and, or, caregivers’ knowledge, attitudes and risk perception towards prevention of unintentional injuries in children aged up to 14 years
In this study was obtained a total of 577 valid responses, involving 890 children (53,1% male; 46,8% female), with an average age of 8,9 years old.
The results revealed that almost all the parents knew about unintentional injuries (82,4 % in Greece vs 92,3% in Portugal), considered that have a big impact on children (89,8% in Greece vs 66,9% in Portugal) and injuries are preventable .(63,2% in Greece vs 88,4% in Portugal).
Considering data from both countries, the analysis of the association of parents’ knowledge with their occupation showed that freelance worker or trader were those who most considered that injuries have a big impact on children (95,0% - mother; 84,7% - father). Also the fathers employee were the major group that considered injuries can be preventable (93,4%), these differences were statistically significant (p<0,01).
The results may inform the design, implementation and evaluation of interventions to promote safety and prevent accidents in these both countries.N/
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis
Get PDF(This article belongs to the Special Issue Neurodevelopmental Disabilities)Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by
communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clarify the biological processes affected by NS gene variants identified in individuals with ASD and the global networks that link those processes together. For a curated list of 1216 NS candidate genes, identified in multiple databases and the literature, we searched for ultra-rare (UR) loss-of-function (LoF) variants in the whole-exome sequencing dataset from the Autism Sequencing Consortium (N = 3938 cases). Filtering for population frequency was carried out using gnomAD (N = 60,146 controls). NS genes with UR LoF
variants were used to construct a network of protein–protein interactions, and the etwork’s biological communities were identified by applying the Leiden algorithm. We further explored the expression enrichment of network genes in specific brain regions. We identified 356 variants in 208 genes, with a preponderance of UR LoF variants in the PDE11A and SYTL3 genes. Expression enrichment analysis highlighted several subcortical structures, particularly the basal ganglia. The interaction network defined seven network communities, clustering synaptic and neurotransmitter pathways
with several ubiquitous processes that occur in multiple organs and systems. This approach also uncovered biological pathways that are not usually associated with ASD, such as brain cytochromes P450 and brain mitochondrial metabolism. Overall, the community analysis suggests that ASD involves the disruption of synaptic and neurotransmitter pathways but also ubiquitous, but less frequently implicated, biological processes.This research was funded by Fundação para a Ciência e a Tecnologia (UIDB/04046/2020
and UIDP/04046/2020 Center grants to BioISI), PAC-POCI-01-0145-FEDER-016428 MEDPERSYST,
DeePer—Deep graph learning approaches to personalized medicine (EXPL/CCI-BIO/0126/2021)
and the National Institute of Health Doutor Ricardo Jorge. J.V., A.R.M. and J.X.S. are recipients
of a fellowship from the BioSys PhD program PD65-2012 (J.V. Ref: PD/BD/131390/2017; A.R.M.
Ref: PD/BD/113773/2015; and J.X.S. Ref: PD/BD/114386/2016) from Fundação para a Ciência e a
Tecnologia (Portugal)info:eu-repo/semantics/publishedVersio
A paralisia cerebral é mais grave quando coexistente com malformações congénitas: coorte 2001 a 2014 do Programa de Vigilância Nacional da Paralisia Cerebral
Get PDFIntrodução e objectivos:
A paralisia cerebral (PC) é um complexo clínico com múltiplas causas e quadros clínicos muito variados. As malformações congénitas (MC) encefálicas são reconhecidas como causa de PC. No entanto, estudos recentes chamam a atenção para a associação da presença de MC com a gravidade e complexidade da PC. Apresenta-se a evidência desta associação nas crianças com PC residentes em Portugal.
Metodologia:
Foi realizado o cruzamento de dados do Registo Nacional de Anomalias Congénitas e do Programa de Vigilância Nacional de Paralisia Cerebral para complementar a informação sobre MC. Analisaram-se crianças com PC nascidas entre 2001 e 2014. Foram caracterizadas as MC de acordo com a CID-10, seguindo os critérios EUROCAT. Exploraram-se associações entre as formas clínicas da PC e a presença ou grupo de malformações congénitas.
Resultados:
Foi identificada alguma MC em 526/2066 das crianças com esta informação (25,5%; IC95% 23,6-27,4); 197 crianças tinham múltiplas MC (9,5%; IC95% 8,3-10,9). A prevalência de MC nas crianças com PC é muito superior à da população em geral; a MC do SNC é a mais frequente (15%; IC95% 13,7-16,8), seguida da cardíaca (4,4%; IC95% 3,6-5,3) e de síndromes de causas externas (3%; IC95% 2,5-4,0). Não ter MC confere uma possibilidade 2,2 vezes superior de não ter nenhum indicador de complexidade de PC (Odds Ratio 2,2; IC95% 1,64-3,02). A análise estratificada identifica a MC do SNC como o factor mais importante de complexidade na presença de MC múltipla.
Conclusão:
A presença de MC associa-se a risco de maior gravidade e/ou complexidade da PC, mesmo quando não seja causa direta da PC. Este risco é maior na presença de malformações do SNC. Este facto deve ser tido em conta ao avaliar o prognóstico e na programação do acompanhamento multidisciplinar.N/
Severe Congenital Heart Defects and Cerebral Palsy
Get PDFObjective: To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.
Methods: Population-based, data linkage study between CP and congenital anomaly registers in Europe and
Australia. The EUROCAT definition of severe CHD (sCHD) was used. Linked data from 4 regions in Europe and 2 in Australia were included. All children born in the regions from 1991 through 2009 diagnosed with CP and/or sCHD were included. Linkage was completed locally. Deidentified linked data were pooled for analyses.
Results:The study sample included 4989 children with CP and 3684 children with sCHD. The total number of livebirths in the population was 1 734 612. The prevalence of CP was 2.9 per 1000 births (95% CI, 2.8-3.0) and the prevalence of sCHD was 2.1 per 1000 births (95% CI, 2.1-2.2). Of children with sCHD, 1.5% (n = 57) had a diagnosis of CP, of which 35 (61%) children had prenatally or perinatally acquired CP (resulting from a brain injury at £28 days of life) and 22 (39%) children had a postneonatal cause (a brain injury between 28 days and 2 years). Children with CP and sCHD more often had unilateral spastic CP and more intellectual impairments than children with CP without congenital anomalies.Conclusions: In high-income countries, the proportion of children with CP is much higher in children with sCHD than in the background population. The severity of disease in children with CP and sCHD is milder compared with children with CP without congenital anomaliesFunding support received for the overarching Comprehensive CA-CP Study: the Cerebral Palsy Alliance Research Foundation (The Comprehensive CA-CP Study PG1215 and PG2816 and salary support from Cerebral Palsy Alliance Research Foundation (S.G., S.M., H.S.S., N.B.).info:eu-repo/semantics/publishedVersio
Monitorização da Mortalidade 2022
Get PDFPeríodo em análise: 03 de janeiro de 2022 a 01 de janeiro de 2023.Dados disponíveis a 13 de janeiro de 2023.A monitorização da mortalidade por todas as causas é uma ferramenta útil na identificação de fenómenos de saúde, ou desastres de elevada gravidade ou de elevada incidência na população e impacto na mortalidade. Em Portugal, a monitorização da mortalidade é realizada, desde 2007, pelo Departamento de Epidemiologia do Instituto Nacional de Saúde Doutor Ricardo Jorge, permitindo estimar impactos associados a diversos eventos tais como: epidemias de gripe, COVID-19, períodos de temperaturas extremas e acidentes.
Este relatório tem como objetivos, descrever a evolução da mortalidade por todas as causas durante o ano de 2022 [semana 01/2022 à semana 52/2022 (03 janeiro de 2022 a 01 janeiro de 2023)], bem como identificar e analisar os períodos de excesso de mortalidade identificados.
No período em estudo, foram registados 124.602 óbitos em Portugal, tendo sido identificados quatro períodos de excesso de mortalidade a nível nacional [6.135 óbitos em excesso (IC 95%: 5.214-7.056)]:
1. 17 janeiro a 06 de fevereiro: 891 óbitos em excesso (IC 95%: 479-1.303; 12 % de excesso em relação ao esperado); temporalmente coincidente com uma onda de COVID-19 e um período de temperaturas baixas, identificado pelo sistema de vigilância FRIESA como um período de frio extremo com efeito provável na mortalidade;
2. 23 de maio a 19 de junho: 1.744 óbitos em excesso (IC 95%: 1.268-2.220; 21 % de excesso em relação ao esperado); temporalmente coincidente com uma vaga de COVID-19 e um período de temperaturas anormalmente elevadas para a época do ano de acordo com o Instituto Português do Mar e da Atmosfera (IPMA);
3. 04 de julho a 07 de agosto: 2.401 óbitos em excesso (IC 95%: 1.869-2.933; 25 % de excesso em relação ao esperado); temporalmente coincidente com períodos de calor extremo, identificados pelo sistema de vigilância ÍCARO;
4. 28 de novembro a 18 de dezembro: 1.099 óbitos em excesso (IC 95%: 687-1.511; 15 % de excesso em relação ao esperado); coincidentes com o período epidémico da gripe.
Foram observados períodos de excesso de mortalidade em todas as regiões, embora com diferente duração e magnitude. A região Norte foi a região em que se identificou um maior número de semanas de excesso de mortalidade (18) distribuídas por quatro períodos. Observaram-se excessos de mortalidade no grupo etário 15 aos 24 anos de idade e nos grupos etários acima dos 65 anos. existindo um gradiente crescente com a idade em relação ao número de semanas em excesso de mortalidade (65-74 anos: 6 semanas; 75-84 anos: 9 semanas; e 85 mais: 22 semanas).
Dada a coincidência temporal, podemos concluir que a maioria dos períodos de excessos de mortalidade identificados quer a nível nacional, quer a nível regional, terão estado potencialmente associados a fenómenos amplamente conhecidos por poderem ter impactos na mortalidade, particularmente, as epidemias de gripe e COVID-19 e os períodos de calor e frio extremos. Salientando-se que, os impactos devido à gripe e COVID-19 terão sido inferiores do que o observado noutros invernos, embora os impactos observados no verão tenham sido superiores aos observados em anos anteriores (ainda que dentro do esperado para a magnitude e duração dos períodos de calor registados).
Refira-se que o aumento da taxa de mortalidade em vários grupos etários indica um aumento do risco de morrer, em relação a anos pré-pandemia, que não parece totalmente explicado pelo envelhecimento populacional, uma vez que ao contrário do que se observava antes da pandemia a taxa de mortalidade padronizada aumentou a partir de 2020 e ainda não regressou aos valores pré-pandemia.N/
Report: B1MG Country Exchange Visits
No full textNo âmbito do projeto B1MG (Beyond One Million Genomes), WP5, o INSA colaborou na organização de três Country Exchange Visits (CEV) (formato virtual) ao Reino Unido (23 e 24 de Março de 2021), Estónia (19 e 20 de Maio de 2021) e Finlândia (16 e 17 de Junho de 2021). Este documento, cuja elaboração e conteúdo teve no INSA o seu maior contribuinte, constitui o relatório destas 3 CEVs.Beyond One Million Genomes-B1MG has received funding from the European Union’s Horizon 2020 Research and
Innovation programme under grant agreement No 951724.N/
Adolescents' capacity to take action on obesity: A concurrent controlled before‐and‐after study of the European CO‐CREATE project
Get PDFThis study evaluated the effect on reported readiness for action and attitudes toward obesity prevention among older adolescents (mean age 17) who took part in a youth-led participatory action research European initiative (CO-CREATE Youth Alliances)compared with a comparison group that acted as controls. This was a concurrent before-and-after controlled study across five countries and took place between September 2019 and October 2020. Adolescents (n=159) recruited from schools and youth organizations came together with researchers and formed 15 Youth Alliances. An online questionnaire measuring their readiness for action and attitudes toward obesity prevention was administered. Alliance members (n=62) who filled in the questionnaire at both baseline and postinitiative, and adolescents from the comparison group (n=132) who completed the questionnaire twice were included in the main analysis. Two-level linear mixed models controlling for country-related variance were fitted. Alliance members scored significantly higher than the comparison group on two factors in each of the readiness for action, responsibility, and drivers of behavior concepts. The findings suggest that involving youth in co-creating policies to prevent obesity may increase adolescents' readiness for action and promote a shift in adolescents' conceptualization of obesity from an individual perspective to a societal responsibility and drivers of behavior.We would like to acknowledge and thank all the young people who participated in this study. The CO-CREATE project has received funding from the European Union's Horizon 2020 research and innovation program under grant agreement No. 774210. The content of this paper reflects only the authors' views, and the European Commission is not liable for any use that may be made of the information it contains.info:eu-repo/semantics/publishedVersio
Recruiting and engaging adolescents in creating overweight and obesity prevention policies: The CO‐CREATE project
Get PDFSpecial Issue: The CO‐CREATE Project: Co‐creating policy with youthThe CO-CREATE project aims to collaborate with adolescents across Europe in developing policy ideas that contribute to overweight and obesity prevention. In this paper, we present the theoretical basis and methodological approach to recruitment and engagement in the project. The principles of youth-led participatory action research were employed to design Youth Alliances in which adolescents and adults could collaborate. These Alliances should serve to promote and support adolescent participation and to develop policy ideas that would contribute to obesity prevention. Alliance members were recruited in two local geographical areas per country with a focus on reaching out to underrepresented youth. We started with fieldwork to assess locally relevant forms of inclusion and exclusion. The methodology entailed a handbook combining existing tools which could be used flexibly, a collaborative organization, and budgets for the alliances. Engagement started in local organizations, that is, schools and scouts, and with peers. Health- and overweight-related challenges were addressed in their immediate surroundings and supported the inclusion of experiential knowledge. Adolescents were then supported to address the wider obesogenic system when designing policy ideas. The CO-CREATE Alliances provide a concrete example of how to engage youth in public health, in a manner that strives to be participatory, transformative, and inquiry based.The “Confronting obesity: Co-creating policy with youth” (CO-CREATE) project has received funding from the European Union's Horizon 2020 research and innovation program under Grant 774210 (https://cordis.europa.eu/project/id/774210).info:eu-repo/semantics/publishedVersio
Azadirachta indica A. Juss (neem) phenolic extract inhibits human B-lymphoblastoid cells growth via cell cycle arrest, apoptosis induction, and DNA damage
Get PDFAim:
As far as is known, the pharmaceutical effects of neem on human B-lymphoblastoid (TK6) cells have not been studied until now. Hence, the present study aimed to obtain neem phenolic extracts for inhibits the proliferation of TK6 cells and explore some possible underlying mechanisms involved in these effects.
Methods:
Hexane extract (HE) was obtained in the first step. After that, the residual hexane was removed from the neem. The dried neem sample was used in a new extraction for obtaining the ethyl acetate extract (EAE). Total phenolic compounds (TPC) and total flavonoid contents (TFC) were determined by spectrophotometric methods. Lactate dehydrogenase (LDH) and 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) tests were used to evaluate the cytotoxicity in TK6 cells. The stop at G0/G1 cell cycle and inducing apoptosis in the TK6 cells were analyzed by flow cytometry. For deoxyribonucleic acid (DNA) damage evaluation, the alkaline comet test was used.
Results:
The higher TFC (65.50 mg/g of extract ± 1.17 mg/g of extract) and TPC (52.08 mg of extract ± 0.88 mg of extract) were obtained in EAE compared to HE that was obtained TFC of 14.61 mg/g of extract ± 0.60 mg/g of extract and TPC of 3.20 mg/g of extract ± 1.20 mg/g of extract. EAE was more significantly cytotoxic to TK6 cells than HE. The apoptosis induction was higher after exposure to 15.0 µg/mL of EAE (11.29%) in comparison to 15.0 µg/mL of HE (2.52%). The G0/G1 phase increased from 72% negative control (NC) to 83% after treatment with neem extracts (15 µg/mL). Neem extracts were also able to cause DNA strand breaks in TK6 cells.
Conclusions:
The extraction residue from neem leaf after hexane extraction is a source important of cytotoxic and genotoxic molecules against TK6 cells, the results also can suggest that the toxic effects in TK6 cells can be provided most likely due to the presence of high content of TPC from neem extracts.The CAPES (Coordination for the Improvement of Higher Education Personnel), Program Sandwich Abroad (Process: PDSE 99999.003409/15-5) provided funding for Klebson Silva Santos’ financial support and scholarship in Portugal. This study also was funded by CNPq (National Council for Scientific and Technological Development), and FAPITEC/SE (Fundação de Apoio à Pesquisa e à Inovação Tecnológica do Estado de Sergipe). The study also was carried out with financial support from FCT/MEC through national funds and co-financed by FEDER, under the Partnership Agreement PT2020 and the project UID/QUI/50006/2013-POCI/01/0145/FEDER/007265. This work was also supported by the UIDB/50006/2020 project, funded by FCT/MCTES (Portugal, through national funds); SYSTEMIC “an integrated approach to the challenge of sustainable food systems: adaptive and mitigatory strategies to address climate change and malnutrition”, a Knowledge hub on Nutrition and Food Security, funded by FWO, INRA, BLE, MIPAAF, IZM, RCN, FCT and AEI in a joint action of JPI HDHL, JPI-OCEANS, and FACCE-JPI launched in 2019 under the ERA-NET ERA-HDHL [696295].info:eu-repo/semantics/publishedVersio