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- Paralisia Cerebral em Portugal no Século XXI: Risco e FuncionalidadePublication . Virella, Daniel; Folha, Teresa; Cadete, Ana; Alvarelhão, Joaquim; Calado, Eulália; Cabral, Alexandra; Gouveia, Rosa; Gaia, Teresa; Abrantes, Margarida; Cancelinha, Cândida; Lopes, Patrícia; Braz, Paula; Sousa Uva, Mafalda; Aniceto, CarlosO Programa de Vigilância Nacional da Paralisia Cerebral em Portugal (PVNPC) produz e publica evidência científica que contribua para a prevenção da paralisia cerebral (PC) e para satisfazer as necessidades de saúde, educação e apoio social das pessoas que vivem com PC. Este relatório apresenta informação sobre fatores de risco para a ocorrência de PC, a caracterização funcional e doença associada à PC, e outros indicadores relevantes de mais de 2700 crianças com PC nascidas entre 2001-2015 e/ou residentes em Portugal aos 5-8 anos de idade (entre 2006-2024). Estas crianças correspondem a mais de 80% dos casos de PC expectáveis (2/1000 nados-vivos) para estes períodos. Crianças com paralisia cerebral, nascidas em Portugal em 2001-2015 O risco das crianças nascidas em Portugal terem PC aos 5 anos de idade manteve-se estável ao longo dos primeiros 15 anos de nascimento deste século (1,7 casos por 1000 nados-vivos). Os indicadores de risco identificados chamam a atenção para a importância do esclarecimento da população, contribuindo para a promoção de comportamentos saudáveis, particularmente, de saúde reprodutiva. A prematuridade foi o fator de risco de PC mais frequente. A grande (28 a 31 semanas de gravidez) e a extrema prematuridade (menos de 28 semanas de gravidez) aumentaram o risco de PC respetivamente 47 vezes e 81 vezes, comparando com as crianças nascidas a termo (37 ou mais semanas de gravidez). A gravidez em idade tardia associou-se a maior risco de PC. Comparados com os filhos de mães entre os 20-34 anos, as mães com menos de 20 anos tiveram um risco 30% maior de ter uma criança com PC; as mães entre 35 e 39 anos, um risco 15% maior; nas mães entre os 40 e os 44 anos foi 50% maior; nas mães com mais de 44 anos, o risco foi 3 vezes maior. Nascer sem assistência adequada associou-se a maior risco de PC. O parto em casa, no transporte ou numa instituição de saúde sem maternidade, embora registado com pouca frequência em Portugal, teve uma estimativa de aumento de 12 vezes do risco de PC. Preocupa a tendência populacional para o aumento da ocorrência destes três fatores de risco em Portugal. Ser o primeiro filho, ser rapaz, nascer leve para o tempo de gravidez e a presença de malformação congénita também se associaram a maior risco de PC. Anomalias congénitas do sistema nervoso central, frequentemente associadas a infeção do grupo TORCHS (citomegalovirus), associaram-se a maior complexidade da PC. Ter anomalia congénita do sistema circulatório (maioritariamente anomalia cardíaca) associou-se à identificação de um evento tardio, pós-neonatal, como causa da PC. Destaca-se a PC causada por acidente vascular cerebral (AVC), nomeadamente nos períodos pré e perinatal. A proporção destes diagnósticos duplicou no período em análise (5% vs 11%), provavelmente pelo maior acesso ao diagnóstico pela neuroimagem. Em 8% das crianças com PC foi identificado um evento pós-neonatal como causa da PC (infeção, complicação de intervenção clínica, AVC). Verificou-se maior risco de PC nos concelhos com maior privação socioeconómica, num aumento de risco estimado em 25%. A privação socioeconómica nos concelhos de residência das mães na altura do nascimento, foi estimado pela versão portuguesa do European Deprivation Index. A avaliação do risco perinatal de PC é dificultada pela falta de dados populacionais. O início do registo de casos de encefalopatia hipóxico-isquémica, submetidos a hipotermia induzida e a implementação de registo nacional de hipotermia induzida contribuirão para maior conhecimento sistemático desta causa de PC. Nas crianças com PC residentes em Portugal aos 5 anos, o tipo clínico predominante registado com mais frequência foi o espástico (84%); menos frequentes foram o disquinético (11%) e o atáxico (5%). O uso generalizado da ressonância magnética crânio-encefálica contribuiu para identificar o processo causal mais provável da PC e estimar o prognóstico de cada criança. Lesões predominantes da substância branca (38%) e da substância cinzenta (31%) foram as registadas com maior frequência; as malformações cerebrais foram identificadas como predominantes em 16%. Ao longo do tempo, há uma tendência para diminuição da proporção de crianças com PC em que a lesão da substância branca é predominante. As crianças com PC espástica apresentavam maioritariamente lesão da substância branca (42%); as com PC disquinética, lesão da substância cinzenta (60%); a proporção de ressonância magnética normal foi maior (24%) nas crianças com PC atáxica. Entre as crianças com PC residentes em Portugal aos 5-8 anos, 9,5% nasceu no estrangeiro, com tendência para o aumento ao longo dos anos (17% nos anos mais recentes). Nas crianças imigrantes houve maior proporção das PC disquinéticas e maior proporção de casos com maior complexidade da PC. Em metade das crianças com PC residentes em Portugal aos 5-8 anos foi registado um compromisso grave da motricidade global (GMF-CS: níveis III, IV e V), i.e., sem autonomia da marcha, assim como da motricidade fina dos membros superiores (BFMF: níveis III, IV e V), i.e., necessitando de meios auxiliares da atividade. Quase metade das crianças não conseguia fazer-se entender pela fala fora do seu contexto familiar; necessitando meios alternativos e aumentativos para a comunicação. Mais de um quarto (28%) das crianças apresentava défice nutricional acentuado, com peso abaixo do percentil 3. Registou-se compromisso do desenvolvimento cognitivo (QI < 70) em 61% das crianças, e compromisso cognitivo moderado a grave (QI <50) em 46%. Globalmente, 71% das crianças encontravam incluídas no ensino regular em idade pré-escolar e 53% em idade de escolaridade obrigatória. Esta proporção foi muito inferior nas crianças imigrantes.
- Methicillin-Resistant Staphylococcus aureus: The Shifting Landscape in the United Arab EmiratesPublication . Boucherabine, Syrine; Nassar, Rania; Mohamed, Lobna; Habous, Maya; Nabi, Anju; Husain, Riyaz Amirali; Alfaresi, Mubarak; Oommen, Seema; Khansaheb, Hamda Hassan; Al Sharhan, Mouza; Celiloglu, Handan; Raja, Mubarak Hussain; Abdelkarim, Eman; Ali, Nishi; Tausif, Salman; Olowoyeye, Victory; Soares, Nelson Cruz; Hachim, Mahmood; Moradigaravand, Danesh; Everett, Dean; Mueller, Elke; Monecke, Stefan; Ehricht, Ralf; Senok, AbiolaBackground: Methicillin-resistant Staphylococcus aureus (MRSA) is a significant burden globally, particularly in the Arabian Gulf region. The United Arab Emirates (UAE) has experienced rising MRSA prevalence, with increasing diversity in the clonal complexes (CCs) identified. The COVID-19 pandemic, with its increased hospitalization rates and antibiotic use, may have further influenced MRSA's genetic evolution and epidemiology in the country. Methods: To investigate this influence, genomic profiling of 310 MRSA clinical isolates collected between February and November 2022 was performed using a DNA microarray-based assay. Results: Isolates were assigned to 22 clonal complexes and 72 distinct strain assignments. The predominant clonal complexes were CC5, CC6, CC361, CC22, CC1, and CC8. Community-acquired MRSA lineages were dominant, with only one healthcare-associated MRSA lineage isolate identified. Upward trends of CC1153 were observed along with rare CCs, such as CC121-MRSA and CC7-MRSA, with the latter being reported for the first time in the Arabian Gulf region. The presence of pandemic strains USA300 CC8-MRSA-[IVa + ACME1] and CC8-MRSA-IV strains were also observed, including variants lacking Panton-Valentine leukocidin (pvl) genes and missing tst1 or enterotoxin genes. The PVL-negative CC772-MRSA-V/VT was identified, representing its first report in the UAE. A novel variant, CC361-MRSA-IV (tst1+/PVL+), was identified. Pvl genes were observed in 36% of the isolates, primarily from skin and soft tissue infections, while fusC (SCC-borne fusidic acid resistance) was identified in 13% of the isolates. Conclusions: The findings highlight the ongoing evolution of MRSA in the UAE, with the persistence and emergence of diverse and rare clonal complexes, driving the need for continuous genomic surveillance.
- Rapid climate action is needed: comparing heat vs. COVID-19-related mortalityPublication . Batibeniz, Fulden; Seneviratne, Sonia I.; Jha, Srinidhi; Ribeiro, Andreia; Suarez Gutierrez, Laura; Raible, Christoph C.; Malhotra, Avni; Armstrong, Ben; Bell, Michelle L.; Lavigne, Eric; Gasparrini, Antonio; Guo, Yuming; Hashizume, Masahiro; Masselot, Pierre; das Neves Pereira da Silva, Susana; Royé, Dominic; Sera, Francesco; Tong, Shilu; Urban, Aleš; Vicedo-Cabrera, Ana M.The impacts of climate change on human health are often underestimated or perceived to be in a distant future. Here, we present the projected impacts of climate change in the context of COVID-19, a recent human health catastrophe. We compared projected heat mortality with COVID-19 deaths in 38 cities worldwide and found that in half of these cities, heat-related deaths could exceed annual COVID-19 deaths in less than ten years (at + 3.0 °C increase in global warming relative to preindustrial). In seven of these cities, heat mortality could exceed COVID-19 deaths in less than five years. Our results underscore the crucial need for climate action and for the integration of climate change into public health discourse and policy.
- 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.
- Behind the scenes of EQA – characteristics, capabilities, benefits and assets of external quality assessment (EQA): Part V – Benefits for stakeholders other than participantsPublication . Buchta, Christoph; De la Salle, Barbara; Marrington, Rachel; Aburto Almonacid, Andrés; Albarède, Stéphanie; Badrick, Tony; Bullock, David; Cobbaert, Christa M.; Coucke, Wim; Delatour, Vincent; Faria, Ana Paula; Geilenkeuser, Wolf-Jochen; Griesmacher, Andrea; Huggett, Jim F.; Ianovska, Viktoriia; Kammel, Martin; Kessler, Anja; Körmöczi, Günther F.; Meijer, Piet; Miranda, Armandina; Patel, Dina; Pezzati, Paola; Sandberg, Sverre; Schennach, Harald; Schweiger, Christian R.; Schwenoha, Karin; Spannagl, Michael; Sung, Heungsup; Thelen, Marc; Weykamp, Cas; Zeichhardt, Heinz; Restelli, Veronica; Perrone, Lucy A.External quality assessment (EQA) enhances patient safety through the evaluation of the quality of laboratory-based and point of care testing. Regulatory agencies and accreditation organizations utilize the results and the laboratory's response to them as part of assessing the laboratory's fitness to practice. In addition, where EQA samples are commutable and the assigned value has been determined using reference measurement procedures (RMPs), EQA data contributes to the verification of metrological traceability of assays as part of the post-market surveillance of diagnostic (IVD) medical devices (IVD-MDs). More broadly, the scientific and medical communities use EQA data to demonstrate that medical laboratory examination procedures are fit for clinical purposes, to evaluate common reference intervals, and inclusion of data in clinical databases. Scientific groups, the IVD industry, reference laboratories and National Metrology Institutes can work with EQA providers to identify measurands, which should urgently be supported by the development of reference materials or methods. The ability of health systems to respond effectively to fast-evolving medical challenges, such as the Coronavirus Disease-19 (COVID-19) pandemic, is reliant on EQA to demonstrate confidence in the performance of new laboratory methods and testing services. EQA providers are uniquely positioned to assess the performance of IVD-MDs in addition to individual laboratories and testing sites. Although the primary focus of EQA providers remains the improvement of the performance of individual laboratories, there are many stakeholders who benefit from EQA performance data.
- Editorial: World antimicrobial awareness weekPublication . Hammoudi Halat, Dalal; Kassem, Issmat I; Osman, Marwan; Manageiro, VeraNo abstract available
- 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.
- Exploring literacy and knowledge gaps and disparities in genetics and oncogenomics among cancer patients and the general population: A Scoping ReviewPublication . Nikitara, Katerina; Cardoso, Maria Luis; Vicente, Astrid Moura; Rasga, Célia Maria Batalha Silva; De Angelis, Roberta; Morel, Zeina Chamoun; De Nicolo, Arcangela; Nomikou, Maria; Karamanidou, Christina; Kakalou, ChristineBackground: Genetic and genomic literacy is pivotal in empowering cancer patients and citizens to navigate the complexities of omics sciences, resolve misconceptions surrounding clinical research and genetic/genomic testing, and make informed decisions about their health. In a fast-evolving scenario where routine testing has become widespread in healthcare, this scoping review sought to pinpoint existing gaps in literacy and understanding among cancer patients and the general public regarding genetics and genomics. Methods: Adhering to the PRISMA framework, the review included 43 studies published between January 2018 and June 2024, which evaluated the understanding of genetics and genomics among cancer patients, caregivers, and citizens. Results: Although the selected studies had significant heterogeneity in populations and evaluation tools, our findings indicate inadequate literacy levels, with citizens displaying lower proficiency than cancer patients and caregivers. This review highlighted consistent knowledge gaps in understanding the genetic and genomic underpinnings of diseases, encompassing misconceptions about mutation types and inheritance patterns, limited awareness of available genetic testing options, and difficulties in interpreting test results. Ethical and privacy concerns and the psychological impact of genetic testing were also common, highlighting the imperative need for effective communication between healthcare providers and patients. Conclusions: Given the dynamic nature of genomic science, the review underscores the need for continuously evolving educational programs tailored to diverse populations. Our findings could guide the development of educational resources addressed explicitly to cancer patients, caregivers, and the lay public.
- Safety, Efficacy, and Pharmacokinetics of Daily Optimized Doses of Rifampicin for the Treatment of Tuberculosis: A Systematic Review and Bayesian Network Meta-AnalysisPublication . Espinosa-Pereiro, Juan; Aguiar, Ana; Nara, Eva; Medina, Angelica; Molinas, Gladys; Tavares, Margarida; Tortola, Teresa; Ghimire, Samiksha; Alfenaar, Jan-Willem C.; Sturkenboom, Marieke G.G.; Magis-Escurra, Cecile; Sánchez-Montalva, Adrián; Barros, Henrique; Duarte, RaquelBackground: Higher than standard doses of rifampicin could improve the treatment outcome of drug-susceptible tuberculosis (TB) without compromising the safety of patients. Methods: We performed a systematic review of prospective clinical studies including adults with pulmonary and extrapulmonary TB receiving rifampicin doses above 10 mg/kg/day. We extracted the data on overall adverse events (AE), hepatic AE, sputum culture conversion (SCC) at week 8, recurrence, mortality, and pharmacokinetics. We performed a Bayesian network meta-analysis (NMA) using a random-effects model. Results: In 19 studies, 2033 out of 3654 participants received rifampicin doses higher than 10 mg/kg/day. The NMA showed an increased risk of overall and hepatic AE for the 40 mg/kg/day dose (risk ratio [RR] 4.8, 95% credibility interval [CrI]: 1.1, 25, and 15.00; 95% CrI: 1.1, 58.0, respectively), but no other doses, including 50 mg/kg/day showed such an increase. Increasing doses improved sputum culture conversion at week 8 (RR 1.3, 95% CrI: 1.1, 1.7 for SCC with 35 mg/kg/day). Conclusions: Optimal doses of rifampicin may be between 25 and 35 mg/kg/day, but should be tailored at the individual or, at least, at the population level.
- Alternative Splicing at the Crossroad of Inflammatory Bowel Diseases and Colitis-Associated Colon CancerPublication . Matos, Paulo; Jordan, PeterSimple Summary: Patients with ulcerative colitis (UC) face a higher risk of developing colorectal cancer (CRC) due to chronic inflammation, a known promoter of tumour growth. Here, we review the molecular differences between colitis-associated cancer (CAC) and sporadic CRC, with a focus on “alternative splicing”, a mechanism by which the same gene can produce various protein forms. We explore how inflammation triggers changes in this process, increasing cancer risk for UC patients. The revised data emphasize that additional research into these molecular changes could help identify new biomarkers (molecules that indicate disease progression) and pave the way for innovative treatments targeting these alterations. Such advances would improve outcomes and quality of life for patients while contributing to cancer prevention and care.