Browsing by Issue Date, starting with "2023-11-28"
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- Allergy: Evaluation of 16 years (2007–2022) results of the shared external quality assessment program in Belgium, Finland, Portugal and The NetherlandsPublication . Heron, Michiel; Schreurs, Marco W.J.; Haagen, Inez-Anne; China, Bernard; Faria, Ana Paula; Vanhanen, Anna-Riitta; Thelen, Marc; Weykamp, Cas W.Objectives: This paper evaluates 16 year results of the Allergy EQA program shared by EQA organisers in Belgium, Finland, Portugal, and The Netherlands. Methods: The performance of Thermo Fisher and Siemens user groups (in terms of concordance between both groups, between laboratory CV, prevalence of clinically significant errors) and suitability of samples (stability and validity of dilution of patient samples) are evaluated using data of 192 samples in the EQA programs from 2007 to 2022. Measurands covered are total IgE, screens and mixes, specific IgE extracts and allergen components. Results: There is perfect (53 %), acceptable (40 %) and poor (6 %) concordance between both method groups. In case of poor concordance the best fit with clinical data is seen for Thermo Fisher (56 %) and Siemens (26 %) respectively. The between laboratory CV evolves from 7.8 to 6.6 % (Thermo Fisher) and 7.3 to 7.7 % (Siemens). The prevalence of blunders by individual laboratories is stable for Siemens (0.4 %) and drops from 0.4 to 0.2 % for Thermo Fisher users. For IgE, the between year CV of the mean of both user groups is 1 %, and a fifteen-fold dilution of a patient sample has an impact of 2 and 4 % on the recovery of Thermo Fisher and Siemens user groups. Conclusions: The analytical performance of Thermo Fisher is slightly better than that of Siemens users but the clinical impact of this difference is limited. Stability of the sample and the low impact of dilution on the recovery of measurands demonstrates the suitability for purpose of the EQA program.
- LDLR activity and cardiovascular burden in Portuguese families with Familial HypercholesterolemiaPublication . Miranda, Beatriz Raposo; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is the most common inherited disorder of lipid metabolism and is clinically characterized by elevated plasma cholesterol, which predisposes to cardiovascular disease (CVD). In nearly 90% of the cases, FH is caused by a pathogenic/likely pathogenic variant in the LDLR gene. In this work, we aimed to compare the cardiovascular burden in families from the Portuguese FH Study (PFHS) carrying different LDLR variants functionally studied. The PFHS database (containing clinical and molecular characterization of individuals referred to the PFHS) was consulted. Considering well-documented personal and familial history of CVD, a total of 246 PFHS families carrying LDLR causative variants (previously functionally characterized) were selected for this study. According to the results of functional assays reported, 47 different pathogenic/likely pathogenic variants (found in 617 subjects) were divided into 3 cut-offs of LDLR activity: < 5% (n=15), 5-30% (n=16), and 30-70% (n=16). Within 80 families carrying variants with a LDLR activity of <5% (214 participants), 10% of individuals suffered at least one cardiovascular event (mainly myocardial infarction) at medium age of 44 years, and the majority reported familial history of CVD in more than 2 generations. In 115 families carrying variants with LDLR activity between 5-30% (280 participants), 7% of the subjects had a cardiovascular event at medium age of 41. It is relevant to note that the individuals presenting CVD had, specifically, variants showing less than 15% of activity. Despite comparatively fewer subjects (only 123), in 51 families carrying variants with a LDLR activity of 30-70%, we observed that 12% of them reported development of CVD at notably older age (medium of 51). Since several LDLR variants greatly impair LDLR function and activity, some are highly associated with premature CDV. Considering the cardiovascular burden of individuals with FH, the early identification of these individuals alongside functional characterization of variants discovered within the PFHS can contribute to an improved and personalized disease management.
- Monitoring COVID‐19 vaccine effectiveness against COVID‐19 hospitalisation and death using electronic health registries in ≥65 years old population in six European countries, October 2021 to November 2022Publication . Kislaya, Irina; Sentís, Alexis; Starrfelt, Jostein; Nunes, Baltazar; Martínez‐Baz, Iván; Nielsen, Katrine Finderup; AlKerwi, Ala'a; Braeye, Toon; Fontán‐Vela, Mario; Bacci, Sabrina; Meijerink, Hinta; Castilla, Jesús; Emborg, Hanne‐Dorthe; Hansen, Christian Holm; Schmitz, Susanne; Van Evercooren, Izaak; Valenciano, Marta; Nardone, Anthony; Nicolay, Nathalie; Monge, Susana; VEBIS‐Lot4 working groupBackground: Within the ECDC-VEBIS project, we prospectively monitored vaccine effectiveness (VE) against COVID-19 hospitalisation and COVID-19-related death using electronic health registries (EHR), between October 2021 and November 2022, in community-dwelling residents aged 65-79 and ≥80 years in six European countries. Methods: EHR linkage was used to construct population cohorts in Belgium, Denmark, Luxembourg, Navarre (Spain), Norway and Portugal. Using a common protocol, for each outcome, VE was estimated monthly over 8-week follow-up periods, allowing 1 month-lag for data consolidation. Cox proportional-hazards models were used to estimate adjusted hazard ratios (aHR) and VE = (1 - aHR) × 100%. Site-specific estimates were pooled using random-effects meta-analysis. Results: For ≥80 years, considering unvaccinated as the reference, VE against COVID-19 hospitalisation decreased from 66.9% (95% CI: 60.1; 72.6) to 36.1% (95% CI: -27.3; 67.9) for the primary vaccination and from 95.6% (95% CI: 88.0; 98.4) to 67.7% (95% CI: 45.9; 80.8) for the first booster. Similar trends were observed for 65-79 years. The second booster VE against hospitalisation ranged between 82.0% (95% CI: 75.9; 87.0) and 83.9% (95% CI: 77.7; 88.4) for the ≥80 years and between 39.3% (95% CI: -3.9; 64.5) and 80.6% (95% CI: 67.2; 88.5) for 65-79 years. The first booster VE against COVID-19-related death declined over time for both age groups, while the second booster VE against death remained above 80% for the ≥80 years. Conclusions: Successive vaccine boosters played a relevant role in maintaining protection against COVID-19 hospitalisation and death, in the context of decreasing VE over time. Multicountry data from EHR facilitate robust near-real-time VE monitoring in the EU/EEA and support public health decision-making.
- Prevention, protocols, and lab capacity: lessons from a norovirus outbreak in the AlgarvePublication . Sá, Regina; Roque, Joana; Marques Mendes, Pedro; Gonçalves, Inês; Sousa, Judite; Matos, Cátia; Júnior, Álvaro; Coelho, Anabela; Belo Correia, Cristina; Manageiro, Vera; Minetti, Corrado; de Sousa, Rita; Horta Correia, Filomena; Lopes, Carlos; Fonseca, Ana; Almeida, Soraia; Ferreira, Maria Jesus; Almendra, Tiago; des Neves, Natalie; Fernandes, Aida; Queiroz, Carolina; Maia, Carla; Bodião, Joaquim; Guerreiro, Ana CristinaThis brief report presents the findings of an epidemiological investigation into a large-scale outbreak of norovirus gastroenteritis that occurred in a hotel in Algarve, Portugal, in August 2022. A total of 244 cases were reported, primarily affecting Portuguese families, with the parents aged 40-50 years and the children aged 0-19 years. Reported symptoms included vomiting, nausea, abdominal pain, and diarrhoea. Norovirus genotype GI.3 [P3] was detected in stool samples from eight probable cases, while food samples tested negative for norovirus and common pathogenic bacteria. The investigation data collected suggest that the source of the outbreak was likely in the hotel's common areas, with subsequent person-to-person transmission in other areas. The final report emphasizes the importance of improving outbreak prevention and control measures, including the development of a foodborne outbreak investigation protocol, the establishment of an outbreak response team, and the enhancement of regional laboratory capacity.
- Functional characterization of two APOB variants from exon 29 found in individuals with clinical diagnosis of Familial HypercholesterolemiaPublication . Ferreira, Maria Simões; Alves, Ana Catarina; Larrea-Sebal, Asier; Martín, César; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is an inherited lipid disorder characterized by increased levels of LDL cholesterol. About 5-10% of FH cases occur due to variants in the APOB gene, but these alterations can be a more common cause of FH than expected since most of APOB variants identified is still unknown their effect on the metabolism. The majority of the variants are missense but there are a few nonsense variants and small indels in exon 29 identified in individuals with hypercholesterolemia phenotype that can cause FH. The aim of this project was to functional characterize APOB variants from exon 29 identified in individuals referred to the Portuguese FH Study to assess if these are the genetic cause of disease. LDL from index cases and relatives was isolated through sequential ultracentrifugation. ED-LDLR was purified from HEK293 cells transfected with the pcDNA3.1-EC-LDLR-His plasmid by affinity chromatography. Purified ED-LDLR fragments were coated onto 96-well plates and incubated with the different APOB variants. Antibodies were used for ligand detection, and absorbance was determined at 405 nm. CHO-ldlA7 cells were transfected with wt LDLR plasmid and incubated with FITC-labeled LDL to determine LDL binding and uptake by flow cytometry. p.(Gln4316*) and p.(Glu4387Asnfs*7) alterations from exon 29 showed reduced affinity for the LDL receptor. Uptake and binding assays results were similar, so these variants may affect the binding of apoB to the LDL receptor. The alterations studied were not present in a normolipidemic panel. APOB variants studied in this work produce truncated forms of apoB, but they are unlikely to lead to nonsense-mediated decay processes due to their location near the end of the gene. Functional studies can provide important evidence for variant pathogenicity assessment being these essential to provide an accurate diagnosis. These assays can confirm the clinical diagnosis by highlighting the cause of disease, and contribute to a personalized treatment and stratify patient associated cardiovascular risk.