National Institute of Health Dr. Ricardo Jorge
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Tackling societal concerns on food contaminants: a perspective of the European Partnership for the Assessment of Risks from Chemicals
No full textThe use of chemicals in a wide range of products, from fields of
application as varied as biomedicine, agriculture, or food technology
has brought undeniable benefi ts to society. However, it is of utmost
importance to assess, control and minimize potential costs, in terms
of long-term impacts on human health and the environment quality.
Concerning both naturally produced (e.g., mycotoxins) and synthetic
chemicals (e.g., pesticides, residues from food contact materials) that
may contaminate food, there has been a world-wide eff ort to assess
and manage potential risks and put in place regulation to ensure food
safety. The European Partnership for the assessment of Risks from
Chemicals (PARC) aims to advance chemicals risk assessment and
management based on scientifi c evidence. Considering the relevance
of food products as a source of human exposure to a wide range
of contaminants, an overview of some approaches planned under
PARC to understand the societal concerns on food contaminants
through surveys, investigate the real exposure of citizens using human
biomonitoring, as well as their adverse eff ects through toxicological
studies using classical and more advanced in silico, in vitro, in vivo
models, will be briefl y presented. The joint eff ort of PARC and the
networking with other external research initiatives is expected to
expand the knowledge on food contaminants and reduce human
exposure with the ultimate goal of protecting public health.PARC has received funding from the European Union’s Horizon Europe research and innovation programme under Grant Agreement No 101057014.info:eu-repo/semantics/publishedVersio
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
Get PDFErratum in: J Am Heart Assoc. 2023 Jun 6;12(11):e027706. doi: 10.1161/JAHA.122.027706. Epub 2023 Jun 1.Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227232/Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by earlyonset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results: Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the number of patients with similar lipid profiles in a “real-world” setting. Untreated lowdensity lipoprotein cholesterol levels were lower in adults than children (533 versus 776mg/dL; P=0.001). At enrollment, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% and 25.5% and 18.8% of adults and children, respectively. At most recent follow-up, despite multiple lipid-lowering treatment, low-density lipoprotein cholesterol goals were achieved in only a minority of adults and children. Query of the Family Heart Database identified 277 individuals with profiles similar to patients with genetically confirmed HoFH. Advanced lipid-lowering treatments were prescribed for 18%; 40% were on no lipid-lowering treatment; atherosclerotic cardiovascular disease was reported in 20%; familial hypercholesterolemia diagnosis was uncommon. Conclusions: Only patients with the most severe HoFH phenotypes are diagnosed early. HoFH remains challenging to treat. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid-lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.Dr Martin is supported by grants/contracts from the American Heart Association (20SFRN35380046, 20SFRN35490003, 878924, and 882415), Patient‐Centered Outcomes Research Institute (PCORI) (ME‐2019C1‐15328), National Institutes of Health (NIH) (R01AG071032 and P01 HL108800), the David and June Trone Family Foundation, Pollin Digital Health Innovation Fund, and Sandra and Larry Small; Dr Knowles is supported by the NIH through grants P30 DK116074 (to the Stanford Diabetes Research Center), R01 DK116750, R01 DK120565, and R01 DK106236; and by a grant from the Bilateral Science Foundation. Dr Linton is supported by NIH grants P01HL116263, HL148137, HL159487, and HL146134.info:eu-repo/semantics/publishedVersio
Brucellosis: the evolution of the disease in Portugal over two decades
Get PDFBackground: Human and animal health are closely linked, with this relationship being a potential source of diseases to humans, with brucellosis being a classic example. Several prevention strategies have been successfully implemented to control brucellosis, but monitoring the disease is an essential instrument for early implementation of prevention measures, in order to mitigate any damage that an increase in cases may have on the human and animal population. Therefore, the aim of this study was to characterize the evolution of notified cases of human brucellosis in Portugal between 1998-2018.
Methods: Retrospective observational study that included all reported cases of human brucellosis in Portugal, between 1998 and 2018 (last official public data available). Data was collected from reports made available by the Directorate-General for Health (DGS). Descriptive statistics (frequencies mean, median, proportions) by sex, age and geographic location were performed using Microsoft Excel® software.
Results: Between 1998 and 2018, 3752 cases of brucellosis were reported in Portugal, the majority of which were male (n=2298, 61.2%), aged between 15 and 54 years (n=1870; 49.8%). With the exception of 2011, the number of cases reported in males was systematically higher than in females. The regions with the most reported cases are the North (n=1298; 34.6%) and Center (n=1323; 35.3%) of Portugal. The highest number of reported cases were recorded in North region (13 of the 21 years studied). The highest number of reported cases was observed in 1998 (n=817), while the lowest was observed in 2017 (n=16). The number of cases decreased substantially between 1998 and 2004 (variation of -82.6%), with this decline being interrupted by a small increase in cases in 2005. From 2005 onwards, the number of cases resumed its downward trend, although with some fluctuations and in a less pronounced way until 2018.
Conclusion: In the last two decades, the number of reported cases of human brucellosis has decreased significantly. The improvement of the notification system, socioeconomic changes and animal brucellosis eradication programs are determining factors for this decrease. However, brucellosis is not eradicated in Portugal; therefore, the surveillance of human cases is essential to develop timely strategies for controlling brucellosis, not only at human level but also at animal and environmental levels.N/
Exploring One Health through collaborative intersectoral efforts in outbreak investigations: insights from a nation-level simulation exercise on response to foodborne outbreaks
Get PDFA colaboração intersetorial é uma componente essencial da abordagem "Uma Só Saúde" (One Health), que reconhece a interligação entre a saúde dos seres humanos, dos animais e do ambiente. O Programa OHEJP (One Health European Joint Programme) desenvolveu um exercício nacional de simulação de surtos de origem alimentar (OHEJP SimEx) com o objetivo de promover a capacitação e interoperabilidade entre os setores da saúde pública, saúde animal e segurança alimentar. Em Portugal, o OHEJP SimEx destacou a importância do conhecimento dos sistemas disponíveis, das limitações da legislação existente, da importância da harmonização e partilha de dados e da elaboração de mensagens comuns adaptadas a cada setor-alvo. No entanto, há ainda um longo caminho a percorrer para assegurar a cooperação entre os vá- rios setores, uma vez que uma abordagem de “Uma Só Saúde” depende não só da sensibilização e formação dos "especialistas no terreno", mas também da vontade e do empenho políticos e organizacionais.Collaboration across sectors is a crucial element of the One Health approach, acknowledging the interdependence of human, animal, and environmental health. The One Health European Joint Programme (OHEJP) has developed a national outbreak simulation exercise (OHEJP SimEx) with the aim of promoting capacity building and interoperability among the public health, animal health, and food safety sectors. In Portugal, the OHEJP SimEx highlighted the importance of understanding available systems, the limitations of existing legislation, the significance of harmoni- sing and sharing data, and crafting common messages tailored to each target sector. Nevertheless, achieving cooperation across diverse sectors remains a considerable challenge, as the success of the One Health approach relies not only on raising awareness and training field experts but also on political and organisational willingness and commitment.Este trabalho foi financiado pelo European Union’s Horizon 2020 Research and Innovation programme under grant agreement No 773830: One Health European Joint Programme.info:eu-repo/semantics/publishedVersio
Surveillance of multiple congenital anomalies; searching for new associations
No full textMany human teratogens are associated with a spectrum of congenital anomalies rather than a single defect, and therefore the identification of congenital anomalies occurring together more frequently than expected may improve the detection of teratogens. Thirty-two EUROCAT congenital anomaly registries covering 6,599,765 births provided 123,566 cases with one or more major congenital anomalies (excluding chromosomal and genetic syndromes) for the birth years 2008–2016. The EUROCAT multiple congenital anomaly algorithm identified 8804 cases with two or more major congenital anomalies in different organ systems, that were not recognized as part of a syndrome or sequence. For each pair of anomalies, the odds of a case having both anomalies relative to having only one anomaly was calculated and the p value was estimated using a two-sided Fisher’s exact test. The Benjamini–Hochberg procedure adjusted p values to control the false discovery rate and pairs of anomalies with adjusted p values < 0.05 were identified. A total of 1386 combinations of two anomalies were analyzed. Out of the 31 statistically significant positive associations identified, 20 were found to be known associations or sequences already described in the literature and 11 were considered “potential new associations” by the EUROCAT Coding and Classification Committee. After a review of the literature and a detailed examination of the individual cases with the anomaly pairs, six pairs remained classified as new associations. In summary, systematically searching for congenital anomalies occurring together more frequently than expected using the EUROCAT database is worthwhile and has identified six new associations that merit further investigation.info:eu-repo/semantics/publishedVersio
Aspergillosis in free-ranging Magellanic penguins
No full textWe evaluated the mortality due to aspergillosis in free-ranging Magellanic penguins during their migration and the reproductive season. A
total of 98 carcasses of penguins were collected along 370 km of coastline in Southern Brazil, between June 2017 and October 2019, and
from reproductive colonies in Patagonian Argentina, in January 2019. All animals were necropsied, and only proven cases were computed.
Aspergillosis was diagnosed in 2.5% of the penguins evaluated during their migration route. Our study, of the Southern coast of Brazil, is the
first to demonstrate that aspergillosis is an important cause of mortality in free-ranging penguins. The implications of these findings in the One
Health context are discussedLay Summary
Lay Summary: We evaluated the mortality due to aspergillosis in free-ranging Magellanic penguins during their migration and the reproductive season. The mortality rate of penguins was 2.5% during their migration route. Our study is the first to demonstrate aspergillosis as an important cause of mortality in free-ranging penguins.Coordenação de Aperfeiçoamento de Pessoal de Nível Supe-
rior (CAPES), Grant number 001info:eu-repo/semantics/publishedVersio
Recurrent Campylobacter jejuni Infections with In Vivo Selection of Resistance to Macrolides and Carbapenems: Molecular Characterization of Resistance Determinants
Get PDFErratum in: Microbiol Spectr. 2023 Dec 12;11(6):e0312123. doi: 10.1128/spectrum.03121-23. Epub 2023 Oct 10.Free PMC article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10434052/We present two independent cases of recurrent multidrug-resistant
Campylobacter jejuni infection in immunocompromised hosts and the clinical challenges
encountered due to the development of high-level carbapenem resistance. The mechanisms
associated with this unusual resistance for Campylobacters were characterized.
Initial macrolide and carbapenem-susceptible strains acquired resistance to erythromycin
(MIC . 256mg/L), ertapenem (MIC . 32mg/L), and meropenem (MIC . 32mg/L) during
treatment. Carbapenem-resistant isolates developed an in-frame insertion resulting in an
extra Asp residue in the major outer membrane protein PorA, within the extracellular
loop L3 that connects b-strands 5 and 6 and forms a constriction zone involved in Ca21
binding. The isolates presenting the highest MIC to ertapenem exhibited an extra nonsynonymous
mutation (G167AjGly56Asp) at PorA’s extracellular loop L1.
IMPORTANCE Carbapenem susceptibility patterns suggest drug impermeability, related
to either insertion and/or single nucleotide polymorphism (SNP) within porA. Similar molecular
events occurring in two independent cases support the association of these
mechanisms with carbapenem resistance in Campylobacter spp.Importance: Carbapenem susceptibility patterns suggest drug impermeability, related to either insertion and/or single nucleotide polymorphism (SNP) within porA. Similar molecular events occurring in two independent cases support the association of these mechanisms with carbapenem resistance in Campylobacter spp.This work was partially supported by GenomePT (ref. POCI-01-0145-FEDER-022184)
from Fundação para a Ciência e Tecnologia, Portugal.info:eu-repo/semantics/publishedVersio
Comparative complete scheme and booster effectiveness of COVID‐19 vaccines in preventing SARS‐CoV‐2 infections with SARS‐CoV‐2 Omicron (BA.1) and Delta (B.1.617.2) variants: A case–case study based on electronic health records
Get PDFBackground: Information on vaccine effectiveness in a context of novel variants of concern (VOC) emergence is of key importance to inform public health policies. This study aimed to estimate a measure of comparative vaccine effectiveness between Omicron (BA.1) and Delta (B.1.617.2 and sub-lineages) VOC according to vaccination exposure (primary or booster).
Methods: We developed a case-case study using data on RT-PCR SARS-CoV-2-positive cases notified in Portugal during Weeks 49-51, 2021. To obtain measure of comparative vaccine effectiveness, we compared the odds of vaccination in Omicron cases versus Delta using logistic regression adjusted for age group, sex, region, week of diagnosis, and laboratory of origin.
Results: Higher odds of vaccination were observed in cases infected by Omicron VOC compared with Delta VOC cases for both complete primary vaccination (odds ratio [OR] = 2.1; 95% confidence interval [CI]: 1.8 to 2.4) and booster dose (OR = 5.2; 95% CI: 3.1 to 8.8), equivalent to reduction of vaccine effectiveness from 44.7% and 92.8%, observed against infection with Delta, to -6.0% (95% CI: 29.2% to 12.7%) and 62.7% (95% CI: 35.7% to 77.9%), observed against infection with Omicron, for complete primary vaccination and booster dose, respectively.
Conclusion: Consistent reduction in vaccine-induced protection against infection with Omicron was observed. Complete primary vaccination may not be protective against SARS-CoV-2 infection in regions where Omicron variant is dominant.The acquisition of sequencing equipment and reagents used in this study by the Instituto Nacional de Saúde Doutor Ricardo Jorge was partially funded by the HERA project (grant no. 2021/PHF/23776), supported by the European Commission through the European Centre for Disease Control, and also partially funded by the Genome PT project (grant no. POCI-01-0145-FEDER-022184), supported by COMPETE 2020–Operational Programme for Competitiveness and Internationalisation, Lisboa Portugal Regional Operational Programme, Algarve Portugal Regional Operational, under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund, and by the Portuguese Science and Technology Foundation. The Algarve Biomedical Center Laboratory received public funding through the Project ALG-D2-2021-06 Variants Screen in Southern Portugal–Monitoring Variants of Concern in Southern Portugal and the Portuguese Science and Technology Foundation national support through the Comprehensive Health Research Center (grant no. UIDP/04923/2020).info:eu-repo/semantics/publishedVersio
From forests to health impacts: integrating human biomonitoring on wildfire research
No full textAbout the impact of Wildfires, that can cause significant impacts on the environment, economy, and people.N/
How to dissect viral infections and their interplay with the host-proteome by immunoaffinity and mass spectrometry: A tutorial
Get PDFThe capabilities of bioanalytical mass spectrometry to (i) detect and differentiate viruses at the peptide level whilst maintaining high sample throughput and (ii) to provide diagnosis and prognosis for infected patients are presented as a tutorial in this work to aid analytical chemists and physicians to gain insights into the possibilities offered by current high-resolution mass spectrometry technology and bioinformatics. From (i) sampling to sample treatment; (ii) Matrix-Assisted Laser Desorption Ionization- to Electrospray Ionization -based mass spectrometry; and (iii) from clustering to peptide sequencing; a detailed step-by-step guide is provided and exemplified using SARS-CoV-2 Spike Y839 variant and the variant of concern SARS-CoV-2 Alpha (B.1.1.7 lineage), Influenza B, and Influenza A subtypes AH1N1pdm09 and AH3N2.Highlights: - Immunohistochemistry with magnetic core nanoparticles to isolate viruses. - The use of MALDI-MS for rapid virus detection is explained in detail; - The use of ESI-MS/MS to pinpoint host-patient crosstalk is explained in detail. - The absolute quantitative MS is explained for large-scale protein quantitation.This work received financial support from PT national funds (FCT/MCTES) through the projects UIDB/50006/2020 and UIDP/50006/2020 and from PROTEOMASS Scientific Society through the projects #PM001/2019 and #PM003/2016.info:eu-repo/semantics/publishedVersio