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- The 24-Hour Activity Checklist for Cerebral Palsy: Translation, Content Validity and Test-Retest Reliability of Portuguese VersionsPublication . Vila-Nova, Fabio; Sá, Cristina; Leite, Hércules Ribeiro; Cadete, Ana; Folha, Teresa; Longo, Egmar; Martins, Maria Elisabete; Oliveira, RaulBackground: The importance of 24-h movement behaviour, including sleep, physical activity (PA) and sedentary behaviour (SB), has gained prominence due to its significant impact on the health and development of children, including those with cerebral palsy (CP). The 24-h activity checklist for CP, a tool developed in the Netherlands to monitor the activity in CP paediatric population, requires translation and cultural adaptation to Portuguese for use in Brazil and Portugal. Methods: This cross-sectional methodological study involved translating and culturally adapting the 24-h activity checklist for CP into Brazilian Portuguese (BP) and European Portuguese (EP) languages. The process included forward translation, synthesis and backward translation, expert panel evaluation and pretesting. Brazilian and Portuguese experts appraised content validity, assessed by the individual item (I-CVI) and scale level content validity index scores (S-CVI/Ave). Sixty parents of children with CP participated in the test-retest analysis, reported with the Intraclass Correlation Coefficients (ICCs). Results: I-CVI scores were higher than 0.78 for both versions. S-CVI/Ave scores were considered excellent for BP (0.91) and EP version (1.0). Expert's appraisal results in the inclusion of a question about sleep-related time indicators and the split of sleep, PA, and screen time questions for weekdays and weekends. Brazilian and Portuguese parents of children with CP reported understanding on instructions, questions, and answer options. The ICC values range from 0.81 to 0.99 and 0.6 to 0.98, for BP and EP, respectively. Conclusions: The BP and EP versions of 24-h activity checklist for CP demonstrated good content validity and test-retest reliability, supporting its use in Brazil and Portugal. This tool can contribute to improving communication between families and healthcare professionals to monitor and develop tailored interventions for healthy movement behaviours in children with CP.
- Application of a Pilot Screening Program for Familial Hypercholesterolemia in a High-Complexity Hospital CenterPublication . Radojkovic, Claudia; Honorato, Paula; Portiño, René; Martínez, Catalina; Saez, Katia; Bourbon, Mafalda; Muñoz, Isabel; Alvarado, Cristóbal; Guzmán, Enrique; Bustos, Paulina; Alonso, Rodrigo; Sánchez, AndreaOne of the current challenges is the early identification of patients with Familial Hypercholesterolemia (FH) through clinical diagnosis and genetic analysis to initiate treatment and prevent the development of atherosclerotic disease. Aim: To describe the results of a pilot program for opportunistic screening of Familial Hypercholesterolemia index cases in a highly complex hospital laboratory. Materials and methods: Retrospective cross-sectional convenience recruitment study. Search for patients with clinical suspicion of FH was conducted by analyzing the lipid profile of users from the Las Higueras Hospital of Talcahuano, between 2019 and 2021. Patients were selected and stratified according to LDL-C concentrations using the Dutch Lipid Clinic Network (DLCN) Criteria. Patients with a DLCN score >6 were selected as candidates for genetic diagnosis. Results: 36,804 lipid profiles were obtained, of which 19,021 corresponded to a unique lipid profile per patient. After applying the exclusion criteria, 98 patients suspected of FH. According to the DLCN criteria, 5 patients were stratified with a definitive clinical diagnosis (DLCN ≥8) and 4 with a probable diagnosis of FH (DLCN 6-7). In 4 of the 6 patients who were contacted, 3 genetic variants associated with FH were identified. Conclusion: This work corresponds to the first report on the application of an FH screening program in a highly complex hospital center in Chile and allowed the definitive diagnosis of pediatric and adult patients with FH. These results demonstrate the importance of implementing an opportunistic screening program and performing genetic analysis for FH variants to a definitive diagnosis.
- Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder - A Systematic ReviewPublication . Vilela, Joana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana Rita; Oliveira, Guiomar; Vicente, Astrid Moura; MDPIAutism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques that study alterations in brain structure and function. Combined with genetic analysis, these techniques have the potential to help in the clarification of the neurobiological mechanisms contributing to ASD and help in defining novel therapeutic targets. To further understand what is known today regarding the impact of genetic variants in the brain alterations observed in individuals with ASD, a systematic review was carried out using Pubmed and EBSCO databases and following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. This review shows that specific genetic variants and altered patterns of gene expression in individuals with ASD may have an effect on brain circuits associated with face processing and social cognition, and contribute to excitation–inhibition imbalances and to anomalies in brain volumes.
- Burden of Disease and Cost of Illness of Overweight and Obesity in PortugalPublication . Borges, Margarida; Sampaio, Filipa; Costa, João; Freitas, Paula; Matias Dias, Carlos; Gaio, Vânia; Conde, Vasco; Figueira, Débora; Pinheiro, Bernardete; Silva Miguel, LuísIntroduction: The prevalence of overweight and obesity has increased in the last decades, posing significant health and economic impacts globally. These conditions are related to several non-communicable diseases, including cardiovascular disease, type II diabetes, and cancer. This study estimated the disease burden and healthcare costs associated with overweight and obesity in the adult population in mainland Portugal, in 2018. Method: Burden of disease was measured in disability-adjusted life years (DALYs) following Global Burden of Disease (GBD) methodology. DALYs were calculated as the sum of years of life lost (YLL) and years lived with disability (YLD). The analyses included morbidity, mortality, and related costs directly related to overweight and obesity, as well as the attributable morbidity, mortality, and related costs of 25 selected diseases related to obesity (DrO). A prevalence-based cost analysis was conducted a from the perspective of the public National Health Service, including costs related to inpatient, outpatient care, and pharmacological treatment. Results: In 2018, total DALY amounted to 260,943, with 75% due to premature death (196,438 YLL) and 25% due to disability (64,505 YLD). The economic burden of overweight and obesity was estimated at approximately EUR 1,148 million. Of these, approximately EUR 13.3 million (1%) were costs related to the treatment of obesity, and the remaining were costs of DrO attributed to overweight and obesity. Outpatient care corresponded to 43% of total costs, pharmacological treatment 38%, and inpatient care 19%. Cardiovascular and cerebrovascular diseases were the largest contributor to total costs (38%), followed by type II diabetes (34%). Conclusion: Overweight and obesity incur a large disease and economic burden to the public healthcare sector, representing approximately 0.6% of the country's gross domestic product and 5.8% of public health expenditures.
- Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failurePublication . Cerván-Martín, Miriam; González-Muñoz, Sara; Guzmán-Jiménez, Andrea; Higueras-Serrano, Inmaculada; Castilla, José A.; Garrido, Nicolás; Luján, Saturnino; Bassas, Lluís; Seixas, Susana; Gonçalves, João; Lopes, Alexandra M; Larriba, Sara; Palomino-Morales, Rogelio J.; Bossini-Castillo, Lara; Carmona, F. DavidStudy question: Do the genetic determinants of idiopathic severe spermatogenic failure (SPGF) differ between generations? Summary answer: Our data support that the genetic component of idiopathic SPGF is impacted by dynamic changes in environmental exposures over decades. What is known already: The idiopathic form of SPGF has a multifactorial etiology wherein an interaction between genetic, epigenetic, and environmental factors leads to the disease onset and progression. At the genetic level, genome-wide association studies (GWASs) allow the analysis of millions of genetic variants across the genome in a hypothesis-free manner, as a valuable tool for identifying susceptibility risk loci. However, little is known about the specific role of non-genetic factors and their influence on the genetic determinants in this type of conditions. Study design, size, duration: Case-control genetic association analyses were performed including a total of 912 SPGF cases and 1360 unaffected controls. Participants/materials, setting, methods: All participants had European ancestry (Iberian and German). SPGF cases were diagnosed during the last decade either with idiopathic non-obstructive azoospermia (n = 547) or with idiopathic non-obstructive oligozoospermia (n = 365). Case-control genetic association analyses were performed by logistic regression models considering the generation as a covariate and by in silico functional characterization of the susceptibility genomic regions. Main results and the role of chance: This analysis revealed 13 novel genetic association signals with SPGF, with eight of them being independent. The observed associations were mostly explained by the interaction between each lead variant and the age-group. Additionally, we established links between these loci and diverse non-genetic factors, such as toxic or dietary habits, respiratory disorders, and autoimmune diseases, which might potentially influence the genetic architecture of idiopathic SPGF. Large scale data: GWAS data are available from the authors upon reasonable request. Limitations, reasons for caution: Additional independent studies involving large cohorts in ethnically diverse populations are warranted to confirm our findings. Wider implications of the findings: Overall, this study proposes an innovative strategy to achieve a more precise understanding of conditions such as SPGF by considering the interactions between a variable exposome through different generations and genetic predisposition to complex diseases.
- Comparison of the ABC and ACMG systems for variant classificationPublication . Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; rea-Fernández, Alejandro J.B; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L.; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M.; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M.; Haanpää, Maria K.; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I.; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; Dunnen, Johan T. den; Laner, AndreasThe ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, and to state if the variant in question would be reported as a relevant result or not as a measure of clinical utility. In contrast to the ABC system, the ACMG system was not made to guide variant reporting but to determine the likelihood of pathogenicity. Nevertheless, this comparison is justified since the ACMG class determines variant reporting in many laboratories. Forty-three laboratories participated in the survey. In seven cases, the classification system used did not influence the reporting likelihood when variants labeled as “maybe report” after ACMG-based classification were included. In three cases of population frequent but disease-associated variants, there was a difference in favor of reporting after ABC classification. A possible reason is that ABC step C (standard variant comments) allows a variant to be reported in one clinical setting but not another, e.g., based on Bayesian-based likelihood calculation of clinical relevance. Finally, the selection of ACMG criteria was compared between 36 laboratories. When excluding criteria used by less than four laboratories (<10%), the average concordance rate was 46%. Taken together, ABC-based classification is more clear-cut than ACMG-based classification since molecular and clinical information is handled separately, and variant reporting can be adapted to the clinical question and phenotype. Furthermore, variants do not get a clinically inappropriate label, like pathogenic when not pathogenic in a clinical context, or variant of unknown significance when the significance is known.
- COVID-19 Vaccine Effectiveness Against Hospitalization in Older Adults, VEBIS Hospital Network, Europe, September 2024-May 2025Publication . Rojas-Castro, Madelyn; Verdasca, Nuno; Monge, Susana; De Mot, Laurane; Trobajo-Sanmartín, Camino; Duffy, Róisín; Túri, Gergő; Kuliese, Monika; Duerrwald, Ralf; Borg, Maria-Louise; Popovici, Odette; Gomez, Verónica; Makarić, Zvjezdana Lovrić; Launay, Odile; Marques, Diogo F.P.; Pozo, Francisco; Witdouck, Arne; Martínez-Baz, Iván; Fitzgerald, Margaret; Oroszi, Beatrix; Jančorienė, Ligita; Buda, Silke; Dziugyte, Ausra; Lazăr, Mihaela; Machado, Ausenda; Tabain, Irena; Nguyen, Liem Binh Luong; Wagner, Eva Rivas; Dufrasne, François; Castilla, Jesús; Domegan, Lisa; Velkey, Viktória; Majauskaite, Fausta; Hackmann, Carolin; Nicolay, Nathalie; Bacci, Sabrina; Rose, Angela M.C.; European Hospital Vaccine Effectiveness GroupWe estimated COVID-19 vaccine effectiveness (VE) against PCR-confirmed SARS-CoV-2 hospitalization in patients ≥ 60 years with severe acute respiratory infection, using a multicenter, test-negative, case-control study across seven sites in six European countries between September 2024 and May 2025. We included 352 cases (115 vaccinated; 33%) and 9980 controls (5024 vaccinated; 50%). VE was 42% (95% CI: 15; 61) 14-59 days post-vaccination, 32% (95% CI: -1; 54) at 60-119 days, and 36% (95% CI: 2; 60) at 120-179 days, and no effect thereafter. Among adults aged 60-79 and ≥ 80 years, we observed moderate VE against COVID-19 hospitalization for up to 2 and 4 months, respectively.
- Detection of Echinococcus spp. and other taeniid species in lettuces and berries: Two international multicenter studies from the MEmE projectPublication . Umhang, Gérald; Bastien, Fanny; Cartet, Alexandra; Ahmad, Haroon; van der Ark, Kees; Berg, Rebecca; Bonelli, Piero; Davidson, Rebecca K.; Deplazes, Peter; Deksne, Gunita; Gargate, Maria João; Van der Giessen, Joke; Jamil, Naila; Jokelainen, Pikka; Karamon, Jacek; M'Rad, Selim; Maksimov, Pavlo; Oudni-M'Rad, Myriam; Muchaamba, Gillian; Oksanen, Antti; Pepe, Paola; Poulle, Marie-Lazarine; Rinaldi, Laura; Samorek-Pieróg, Małgorzata; Santolamazza, Federica; Santoro, Azzurra; Santucciu, Cinzia; Saarma, Urmas; Schnyder, Manuela; Villena, Isabelle; Wassermann, Marion; Casulli, Adriano; Boué, FranckCystic and alveolar echinococcosis are severe zoonotic diseases characterized by long asymptomatic periods lasting months or years. Viable Echinococcus spp. eggs released into the environment through the feces of canids can infect humans through accidental ingestion via hand-to-mouth contact or consumption of contaminated food or water. Both Echinococcus multilocularis and Echinococcus granulosus sensu lato are considered as foodborne parasites. However, when considering possible pathways of human infection, it appears that food and water-borne related variables do not significantly increase the risk of infection. Providing evidence-based data for the presence of DNA and, potentially, eggs in fresh produce is crucial in understanding foodborne transmission of Echinococcus spp. to humans. Two multicenter and multicountry studies were conducted within the One Health EJP framework to estimate the proportion of lettuces and berries contaminated by E. multilocularis, E. granulosus sensu lato, and other taeniid DNAs from a total of 12 European countries, Tunisia and Pakistan. A total of 1117 lettuces, 71 others vegetables, 300 strawberries, 130 blueberries and 50 others berries samples were collected and analysed by washing, sequential sieving and real-time PCRs. E. multilocularis DNA was detected in 1.2 % (7/570) of lettuce samples tested from the seven European endemic countries (Denmark, France, Germany, Latvia, the Netherlands, Poland and Switzerland) and in 2 % (2/100) from Pakistan. E. granulosus sensu lato DNA was identified in 1.3 % of lettuces (9/695) collected in five European endemic countries (France, Italy, Latvia, Poland and Portugal) and in 12 % (9/75) and 4 % (4/100) from Tunisia and Pakistan, respectively. All E. granulosus sensu lato samples were identified as E. granulosus sensu stricto (20/22), except for two identified as E. canadensis (2/22) from Latvia and Pakistan. Regarding berries, E. multilocularis DNA was detected in 5.4 % (n = 11/202) of strawberries, 7.3 % (6/82) of blueberries from the seven European endemic countries and 56 % (14/25) of blueberries from Pakistan. High contamination rates of E. granulosus sensu stricto were found outside of Europe, with 12.0 % (3/25) in blueberries from Pakistan and 81.3 %. (13/16) in strawberries from Tunisia. The total contamination rate of all taeniid species DNA in lettuces (5.3 %; 59/1117), others vegetables (5.6 %; 4/71) and berries (12.1 %; 58/480) suggests that the transfer of taeniid eggs from carnivore feces to food is not uncommon. Although we assume that eggs are the source of the DNA detected in this study, the viability of such eggs is unknown. The detection of Echinococcus species in lettuces and berries suggests a potential risk of foodborne human infection. The relative contribution of this risk remains to be estimated. Further studies on food and environmental contamination are necessary to cover different epidemiological contexts and social habits, leading to a better understanding of human infections by Echinococcus spp. eggs.
- Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertilityPublication . Marić, Tihana; Castillo-Madeen, Helen; Klarić, Monika Logara; Barišić, Antun; Trgovec-Greif, Lovro; Murphy, Mark W.; Juchnewitsch, Anna-Grete; Lillepea, Kristiina; Dutta, Avirup; Žunić, Lucija; Stendahl, Alexandra M.; Punab, Margus; Pomm, Kristjan; Mendoza, Daniel M.; Lopes, Alexandra M.; Šorgić, Ana Merkler; Vugrek, Oliver; Gonçalves, João; Almstrup, Kristian; Aston, Kenneth I.; Belužić, Robert; Ježek, Davor; Bertoša, Branimir; Laan, Maris; Bojanac, Ana Katušić; Conrad, Donald F.; Barbalić, MajaThe most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription factor 1) gene that was further assessed by the EMSA assay and molecular dynamic simulations. We additionally screened for DMRT1 mutations in 1940 infertile men diagnosed with spermatogenic failure, 644 normozoospermic controls, and 105 females with primary ovarian insufficiency (POI) recruited to the GEnetics of Male INfertility Initiative (GEMINI) or Estonian Andrology (ESTAND) cohorts. DMRT1 p.Pro74Leu (chr9:g.842059C > T) variant was detected in infertile brothers in the highly conserved position within the DNA binding DM domain of the protein. EMSA assay showed reduced DNA binding of DMRT1P74L and molecular dynamic simulations showed differences in structural and dynamical properties between the wild type protein and DMRT1P74L. Plausible disease-causing DMRT1 variants were only identified in infertile men (13/1940; 0.67%), and none in 639 fertile controls. Burden testing showed an excess of rare deleterious DM domain mutations in the infertility cohort compared to gnomAD v.4.0 population-based controls (Fisher’s exact test, p = 1.44 x 10−5). Three rare deleterious variants in DMRT1 were found in 104 cases of POI. The findings of this study strengthen the evidence of DMRT1 variants being a causal factor for male infertility and provide the distribution of likely pathogenic variants across the gene. This is also the first study to suggest that DMRT1 variants may also be linked to POI.
- Distinct exercise modalities on GUT microbiome in sarcopenic older adults: study protocol of a pilot randomized controlled trialPublication . Merelim, Ana Sofia; Zacca, Rodrigo; Moreira-Gonçalves, Daniel; Costa, Paulo P.; C. Baptista, LilianaBackground: Sarcopenia is a progressive and age-related skeletal muscle disease related to adverse health outcomes and to an increased economic burden. Recent evidence pinpoints the human gut microbiota (GM) as a contributing factor in the development of sarcopenia via the gut-muscle axis. To date, no study specifically analyzed the optimal type of exercise modality in older adults with sarcopenia considering the impact of GM composition in skeletal muscle mass and function. Therefore, the DEMGUTS study intents to explore the impact of three different exercise regimens on GM composition and gut-derived metabolites in older adults with sarcopenia. Methods:: This pilot single center three-arm parallel open-label randomized control trial (RCT) will randomly assign eligible participants to: (i) moderate aerobic exercise (AER); (ii) resistance exercise (RES); or (iii) concurrent exercise training (RES + AER). Participants will engage in a supervised center-based exercise intervention (12-weeks, 3 d/week, 60 min/d), and will be assessed at (i) baseline, (ii) end of intervention (14 weeks), and (iii) at close-out (26-weeks). The primary outcome will be the change in the relative abundance of Faecalibacterium prausnitzi and other short-chain fatty acid producing bacteria after the intervention (14-weeks). A set of complementary outcomes will also be assessed to broadly characterize the impact of each exercise intervention on body composition, skeletal muscle function, functional performance and general GM composition. Conclusion: Unraveling the impact of these exercise regimens on GM is crucial to help clarify the optimal exercise modality to manage sarcopenia disease, contributing to clinical guidance and enhancing exercise prescription in older adults with sarcopenia. Clinical trial registration identifier NCT06545123