514 results on '"Carvalho, Ana Luísa"'
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2. The ECFA Early Career Researcher's Panel: composition, structure, and activities, 2021 -- 2022
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Panel, ECFA Early-Career Researcher, Geanta, Andrei Alexandru, Amendola, Chiara, Apolinario, Liliana, Arling, Jan-Hendrik, Ashkenazi, Adi, Augsten, Kamil, Bagnaschi, Emanuele, Bakos, Evelin, Barak, Liron, Bastos, Diogo, Benato, Giovanni, Bilin, Bugra, Kraljevic, Neven Blaskovic, Brenner, Lydia, Brizioli, Francesco, Camper, Antoine, Camplani, Alessandra, Vidal, Xabier Cid, Dag, Hüseyin, Dias, Flavia de Almeida, Degens, Jordy, Diociaiuti, Eleonora, Dufour, Laurent, Dunne, Katherine, Erhardt, Filip, Ghinescu, Stefan-Alexandru, Gouskos, Loukas, Herzan, Andrej, Hinger, Viktoria, Hiti, Bojan, Ilg, Armin, Irles, Adrián, Jarkovská, Kateřina, Jovicevic, Jelena, Keszeghova, Lucia, Kirschenmann, Henning, Klaver, Suzanne, Konstantinou, Sotiroulla, Kuich, Magdalena, Kumari, Neelam, Gajdošová, Katarína Křížková, Lelek, Aleksandra, Lorenz, Jeanette, Carvalho, Ana Luisa, Major, Péter, Malczewski, Jakub, Mancini, Giada, Martikainen, Laura, Maurice, Émilie, Mee, Seán, Milosevic, Vukasin, Moravcova, Zuzana, Valero, Laura Moreno, Moureaux, Louis, Mäntysaari, Heikki, Nikiforou, Nikiforos, Otarid, Younes, Pitt, Michael, Placinta, Vlad-Mihai, Räuber, Géraldine, Ripellino, Giulia, Roberts, Bryn, Šantelj, Luka, Schramm, Steven, Shopova, Mariana, Skovpen, Kirill, Smolkovič, Aleks, Sokmen, Gamze, Sznajder, Paweł, Gomez, Lourdes Urda, Waldron, Abigail Victoria, Williams, Sarah, Zaccolo, Valentina, Zardoshti, Nima, and Zeyen, Manuel
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Physics - Accelerator Physics ,Physics - Physics and Society - Abstract
The European Committee for Future Accelerators (ECFA) Early Career Researcher's (ECR) panel, which represents the interests of the ECR community to ECFA, officially began its activities in January 2021. In the first two years, the panel has defined its own internal structure, responded to ECFA requests for feedback, and launched its own initiatives to better understand and support the diverse interests of early career researchers. This report summarises the panel composition and structure, as well as the different activities the panel has been involved with during the first two years of its existence., Comment: Editors: Jan-Hendrik Arling, Emanuele Bagnaschi, Xabier Cid Vidal, Katherine Dunne, Viktoria Hinger, Armin Ilg, Henning Kirschenmann, Steven Schramm, Pawe{\l} Sznajder, Sarah Williams, Valentina Zaccolo
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- 2022
3. Genotype-phenotype severity correlation in a multicentric portuguese cohort of ABCA4-associated retinopathy
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Ferreira, Catarina Cunha, Geada, Sara, Marta, Ana, Carreira, Pedro, Cabral, Diogo, Carvalho, Ana Luísa, Silva, Rufino, Murta, Joaquim, and Marques, João Pedro
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- 2024
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4. Results of the 2021 ECFA Early-Career Researcher Survey on Training in Instrumentation
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Panel, ECFA Early-Career Researcher, Aggarwal, Anamika, Amendola, Chiara, Apolinario, Liliana, Arling, Jan-Hendrik, Ashkenazi, Adi, Augsten, Kamil, Baglio, Julien, Bakos, Evelin, Barak, Liron, Bastos, Diogo, Bilin, Bugra, Biondi, Silvia, Kraljevic, Neven Blaskovic, Brenner, Lydia, Brizioli, Francesco, Camper, Antoine, Camplani, Alessandra, Vidal, Xabier Cid, Dag, Hüseyin, Dias, Flavia de Almeida, Diociaiuti, Eleonora, van Doremalen, Lennart, Dunne, Katherine, Erhardt, Filip, Manteca, Pedro Fernández, Geanta, Andrei Alexandru, Ghinescu, Stefan Alexandru, Gouskos, Loukas, Herzan, Andrej, Hinger, Viktoria, Hiti, Bojan, Ilg, Armin, Inguglia, Gianluca, Irles, Adrián, Jansen, Hendrik, Jarkovská, Kateřina, Keszeghova, Lucia, Kirschenmann, Henning, Konstantinou, Sotiroulla, Kuich, Magdalena, Kumari, Neelam, Gajdošová, Katarína Křížková, Lelek, Aleksandra, Lorenz, Jeanette, Carvalho, Ana Luisa, Malczewski, Jakub, Mancini, Giada, Mann, Alexander, Martikainen, Laura, Maurice, Émilie, Mee, Seán, Milenovic, Predrag, Milosevic, Vukasin, Moravcova, Zuzana, Valero, Laura Moreno, Moureaux, Louis, Mäntysaari, Heikki, Nikiforou, Nikiforos, Otarid, Younes, Pearce, Alex, Pitt, Michael, Placinta, Vlad-Mihai, Ripellino, Giulia, Roberts, Bryn, Šantelj, Luka, Schramm, Steven, Shopova, Mariana, Skovpen, Kirill, Smolkovič, Aleks, Sokmen, Gamze, Sznajder, Paweł, Waldron, Abigail Victoria, Williams, Sarah, Zaccolo, Valentina, and Zeyen, Manuel
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Physics - Instrumentation and Detectors ,High Energy Physics - Experiment - Abstract
The European Committee for Future Accelerators (ECFA) Early-Career Researchers (ECR) Panel was invited by the ECFA Detector R&D Roadmap conveners to collect feedback from the European ECR community. A working group within the ECFA ECR panel held a Townhall Meeting to get first input, and then designed and broadly circulated a detailed survey to gather feedback from the larger ECR community. A total of 473 responses to this survey were received, providing a useful overview of the experiences of ECRs in instrumentation training and related topics. This report summarises the feedback received, and is intended to serve as an input to the ECFA Detector R&D Roadmap process., Comment: Editors: Jan-Hendrik Arling, Katherine Dunne, Armin Ilg, Adri\'an Irles, Predrag Milenovic, Steven Schramm, Mariana Shopova, and Sarah Williams
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- 2021
5. Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes
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Marques, João Pedro, Pinheiro, Rosa, Carvalho, Ana Luísa, Raimundo, Miguel, Soares, Mário, Melo, Pedro, Murta, Joaquim, Saraiva, Jorge, and Silva, Rufino
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- 2023
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6. IL-4 shapes microglia-dependent pruning of the cerebellum during postnatal development
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Guedes, Joana R., Ferreira, Pedro A., Costa, Jéssica, Laranjo, Mariana, Pinto, Maria J., Reis, Tiago, Cardoso, Ana Maria, Lebre, Carolina, Casquinha, Maria, Gomes, Marcos, Shkatova, Viktoriya, Pereira, Marta, Beltrão, Nuno, Hanuscheck, Nicholas, Greenhalgh, Andrew D., Vogelaar, Christina Francisca, Carvalho, Ana Luísa, Zipp, Frauke, Cardoso, Ana Luísa, and Peça, João
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- 2023
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7. Bilateral functional worsening following voretigene neparvovec therapy
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Rebelo Neves, Emmanuel, Carvalho, Ana Luísa, Mesquita, Teresa, Paiva, Catarina, Alfaiate, Mário, Figueira, João, Murta, Joaquim, and Marques, João Pedro
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- 2023
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8. Elucidating the concentration-dependent effects of thiocyanate binding to carbonic anhydrase
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Silva, José Malanho, Cerofolini, Linda, Carvalho, Ana Luísa, Ravera, Enrico, Fragai, Marco, Parigi, Giacomo, Macedo, Anjos L., Geraldes, Carlos F.G.C., and Luchinat, Claudio
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- 2023
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9. Frequency of cystoid macular edema and vitreomacular interface disorders in genetically solved syndromic and non-syndromic retinitis pigmentosa
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Marques, João Pedro, Neves, Emmanuel, Geada, Sara, Carvalho, Ana Luísa, Murta, Joaquim, Saraiva, Jorge, and Silva, Rufino
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- 2022
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10. Structure-function studies can improve binding affinity of cohesin-dockerin interactions for multi-protein assemblies
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Duarte, Marlene, Alves, Victor D., Correia, Márcia, Caseiro, Catarina, Ferreira, Luís M.A., Romão, Maria João, Carvalho, Ana Luísa, Najmudin, Shabir, Bayer, Edward A., Fontes, Carlos M.G.A., and Bule, Pedro
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- 2023
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11. Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum
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Soares, Ricardo Machado, Carvalho, Ana Luísa, Simão, Sílvia, Soares, Célia Azevedo, Raimundo, Miguel, Alves, C Henrique, Ambrósio, António Francisco, Murta, Joaquim, Saraiva, Jorge, Silva, Rufino, and Marques, João Pedro
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- 2023
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12. The structure of a Bacteroides thetaiotaomicron carbohydrate-binding module provides new insight into the recognition of complex pectic polysaccharides by the human microbiome
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Trovão, Filipa, Correia, Viviana G., Lourenço, Frederico M., Ribeiro, Diana O., Carvalho, Ana Luísa, Palma, Angelina S., and Pinheiro, Benedita A.
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- 2023
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13. EYS-Associated Sector Retinitis Pigmentosa
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Marques, João Pedro, Porto, Fernanda Belga Ottoni, Carvalho, Ana Luísa, Neves, Emmanuel, Chen, Rui, Sampaio, Shirley Aparecida Madureira, Murta, Joaquim, Saraiva, Jorge, and Silva, Rufino
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- 2022
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14. Evaluation of PIK3CA mutations in advanced ER+/HER2-breast cancer in Portugal -- U-PIK Project.
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Peixoto, Ana, Cirnes, Luís, Carvalho, Ana Luísa, Andrade, Maria João, Brito, Maria José, Borralho, Paula, Coimbra, Nuno, Borralho, Pedro M., Carneiro, Ana So a., Castro, Lisandra, Correia, Lurdes, Dionísio, Maria Rita, Faria, Carlos, Figueiredo, Paulo, Gomes, Ana, Paixão, Joana, Pinheiro, Manuela, Prazeres, Hugo, Ribeiro, Joana, and Salgueiro, Natália
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- 2024
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15. Polyglutamine-Independent Features in Ataxin-3 Aggregation and Pathogenesis of Machado-Joseph Disease
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Carvalho, Ana Luisa, Silva, Alexandra, Macedo-Ribeiro, Sandra, COHEN, IRUN R., Series Editor, LAJTHA, ABEL, Series Editor, LAMBRIS, JOHN D., Series Editor, PAOLETTI, RODOLFO, Series Editor, REZAEI, NIMA, Series Editor, Nóbrega, Clévio, editor, and Pereira de Almeida, Luís, editor
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- 2018
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16. Necroptosis in Cerebral Ischemia
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Vieira, Marta M., Carvalho, Ana Luísa, and Fujikawa, Denson G., editor
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- 2018
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17. Renaissance of protein crystallization and precipitation in biopharmaceuticals purification
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dos Santos, Raquel, Carvalho, Ana Luísa, and Roque, A. Cecília A.
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- 2017
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18. Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT
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Marques, João Pedro, Carvalho, Ana Luísa, Henriques, José, Murta, Joaquim Neto, Saraiva, Jorge, and Silva, Rufino
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- 2020
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19. Glycogen Synthase Kinase-3 Inhibition by CHIR99021 Promotes Alveolar Epithelial Cell Proliferation and Lung Regeneration in the Lipopolysaccharide-Induced Acute Lung Injury Mouse Model.
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Fernandes, Raquel, Barbosa-Matos, Catarina, Borges-Pereira, Caroline, Carvalho, Ana Luísa Rodrigues Toste de, and Costa, Sandra
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GLYCOGEN synthase kinase-3 ,LUNGS ,LUNG injuries ,EPITHELIAL cells ,REGENERATION (Biology) ,CELL proliferation - Abstract
Acute respiratory distress syndrome (ARDS) is a life-threatening lung injury that currently lacks effective clinical treatments. Evidence highlights the potential role of glycogen synthase kinase-3 (GSK-3) inhibition in mitigating severe inflammation. The inhibition of GSK-3α/β by CHIR99021 promoted fetal lung progenitor proliferation and maturation of alveolar epithelial cells (AECs). The precise impact of CHIR99021 in lung repair and regeneration during acute lung injury (ALI) remains unexplored. This study intends to elucidate the influence of CHIR99021 on AEC behaviour during the peak of the inflammatory phase of ALI and, after its attenuation, during the repair and regeneration stage. Furthermore, a long-term evaluation was conducted post CHIR99021 treatment at a late phase of the disease. Our results disclosed the role of GSK-3α/β inhibition in promoting AECI and AECII proliferation. Later administration of CHIR99021 during ALI progression contributed to the transdifferentiation of AECII into AECI and an AECI/AECII increase, suggesting its contribution to the renewal of the alveolar epithelial population and lung regeneration. This effect was confirmed to be maintained histologically in the long term. These findings underscore the potential of targeted therapies that modulate GSK-3α/β inhibition, offering innovative approaches for managing acute lung diseases, mostly in later stages where no treatment is available. [ABSTRACT FROM AUTHOR]
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- 2024
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20. Small extracellular vesicles administered directly in the brain promote neuroprotection and decreased microglia reactivity in a stroke mouse model.
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Lino, Miguel M., Rondão, Tiago, Banerjee, Arnab, Aires, Inês, Rodrigues, Magda, Reis, Tiago, Santinha, António, Fernandes, Dominique, Serrenho, Débora, Sobrino, Tomás, Sargento-Freitas, João, Pereira, Frederico C., Carvalho, Ana Luísa, and Ferreira, Lino
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- 2023
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21. Ameloblastic neoplasia spectrum: a cross-sectional study of MMPS expression and proliferative activity
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da Silva, Alessandra Dutra, Nóbrega, Thaíse Gomes e, Saudades, Annemarie Warstat, Otero, Maria Inês, Danilevicz, Chris Krebs, Magnusson, Alessandra Selinger, Saraiva Homem de Carvalho, Ana Luisa, Rados, Pantelis Varvaki, Carrard, Vinicius Coelho, Visioli, Fernanda, and Sant’Ana Filho, Manoel
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- 2016
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22. MiR-186-5p inhibition restores synaptic transmission and neuronal network activity in a model of chronic stress
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Rodrigues, Beatriz, Leitão, Ricardo A., Santos, Mónica, Trofimov, Alexander, Silva, Mariline, Inácio, Ângela S., Abreu, Mónica, Nobre, Rui J., Costa, Jéssica, Cardoso, Ana Luísa, Milosevic, Ira, Peça, João, Oliveiros, Bárbara, Pereira de Almeida, Luís, Pinheiro, Paulo S., and Carvalho, Ana Luísa
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Chronic stress exerts profound negative effects on cognitive and emotional behaviours and is a major risk factor for the development of neuropsychiatric disorders. However, the molecular links between chronic stress and its deleterious effects on neuronal and synaptic function remain elusive. Here, using a combination of in vitro and in vivo approaches, we demonstrate that the upregulation of miR-186-5p triggered by chronic stress may be a key mediator of such changes, leading to synaptic dysfunction. Our results show that the expression levels of miR-186-5p are increased both in the prefrontal cortex (PFC) of mice exposed to chronic stress and in cortical neurons chronically exposed to dexamethasone. Additionally, viral overexpression of miR-186-5p in the PFC of naïve mice induces anxiety- and depressive-like behaviours. The upregulation of miR-186-5p through prolonged glucocorticoid receptor activation in vitro, or in a mouse model of chronic stress, differentially affects glutamatergic and GABAergic synaptic transmission, causing an imbalance in excitation/inhibition that leads to altered neuronal network activity. At glutamatergic synapses, we observed both a reduction in synaptic AMPARs and synaptic transmission, whereas GABAergic synaptic transmission was strengthened. These changes could be rescued in vitro by a miR-186-5p inhibitor. Overall, our results establish a novel molecular link between chronic glucocorticoid receptor activation, the upregulation of miR-186-5p and the synaptic changes induced by chronic stress, that may be amenable to therapeutic intervention.
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- 2024
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23. Aβ and NMDAR activation cause mitochondrial dysfunction involving ER calcium release
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Ferreira, Ildete Luísa, Ferreiro, Elisabete, Schmidt, Jeannette, Cardoso, João M., Pereira, Cláudia M.F., Carvalho, Ana Luísa, Oliveira, Catarina R., and Rego, A. Cristina
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- 2015
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24. Mycoplasma pneumoniae-Induced Rash and Mucositis: A Management Dilemma
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S. Abreu, Margarida, Carvalho, Ana Luísa, Morais, André, Carvalho, Susana, and Cerqueira, Arnaldo
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Mycoplasma pneumoniae induced rash and mucositis is a recently acknowledged clinical entity; therefore, the effectiveness and utility of therapeutic options are still under investigation. This case report aims to highlight the clinical characteristics of this disease and share a report on its management. Herein is reported a previously healthy 15-year-old male admitted with a high fever, severe oral and ocular mucositis, and scattered bullous lesions with an erythematous halo. The epidemiological context was irrelevant, and laboratory tests revealed elevated inflammatory markers. The patient received complete supportive care and intravenous immunoglobulin; however, there was no clinical or laboratory response. After the etiological investigation supported a Mycoplasma pneumoniae infection, treatment with azithromycin and systemic corticotherapy started, which led to favorable outcomes. He was discharged after 24 days with no sequelae. When Mycoplasma pneumoniae-induced rash and mucositis is suspected, extensive testing for mycoplasma infection should be granted and cautiously interpreted. Since disease management lacks robust scientific evidence, case reporting is significantly needed.
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- 2023
25. Stresse e exaustão profissional em enfermeiros num serviço de internamento cirúrgico
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Carvalho, Ana Luísa and Neto, Hernâni Veloso
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Riscos Psicossociais, Stress, Exaustão profissional, enfermeiros, serviço cirúrgico - Abstract
Resumo: Os riscos psicossociais assumem-se como um desafio para a área de saúde e segurança no trabalho, e quando se direciona para os profissionais de saúde, nomeadamente os enfermeiros, os fatores de risco tendem a ser prementes, pela carga de trabalho, rotatividade de horários, trabalho noturno, exposição constante ao sofrimento e morte, entre outros. Essas exposições podem ser geradoras de forte desgaste psicossocial e contribuir para o aumento das taxas de absentismo e de colocar em causa a prestação de cuidados de qualidade aos clientes. Assim, é importante caracterizar quais os fatores stressores e de esgotamento ligados ao trabalho dos enfermeiros num serviço de internamento cirúrgico e de que forma influenciam o seu dia-a-dia. Para isso, foi realizado um estudo que tem por base uma pesquisa descritiva, de natureza quantitativa e transversal. A recolha de dados foi realizada com recurso a um questionário sobre stress e exaustão profissional em atividades de enfermagem, aplicado em formato de autopreenchimento, anónimo e confidencial através do Google Forms. Verificou-se que a atividade de enfermagem é de facto muito exigente, devido ao ritmo de trabalho e às exigências emocionais que a própria profissão comporta, podendo afetar a condição psicossocial dos enfermeiros e a prestação de cuidados de saúde. Palavras-chave: Riscos Psicossociais, Stress, Exaustão profissional, enfermeiros, serviço cirúrgico. ___________________________ Stress and professional exhaustion in nurses at a surgical inpatient service Abstract: Psychosocial risks are assumed as a challenge for the area of health and safety at work, and when directed to health professionals, namely nurses, the risk factors tend to be pressing, due to workload, shifting hours, night work, constant exposure to suffering and death, among others. These exposures can generate strong psychosocial exhaustion and contribute to increased absenteeism rates and jeopardize the provision of quality care to clients. Thus, it is important to characterize the stressors and exhaustion factors linked to the work of nurses in a surgical inpatient service and how they influence their day-to-day. For this, a study was carried out based on descriptive, quantitative, and cross-sectional research. Data collection was carried out using a questionnaire on stress and professional exhaustion in nursing activities, applied in a self-administered, anonymous, and confidential format through Google Forms. It was verified that the nursing activity is in fact very demanding, due to the pace of work and the emotional demands that the profession itself entails, which can affect the nurses psychosocial condition and the provision of health care. Keywords: Psychosocial Risks, Stress, Professional exhaustion, nurses, surgical service.
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- 2022
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26. Polyglutamine Expansion Diseases – the Case of Machado-Joseph Disease
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Ribeiro, Sandra Macedo-, Almeida, Luís Pereira de, Carvalho, Ana Luísa, Rego, Ana Cristina, Malva, João O., editor, Rego, Ana Cristina, editor, Cunha, Rodrigo A., editor, and Oliveira, Catarina R., editor
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- 2007
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27. Faecalibacterium prausnitzii in Differentiated Thyroid Cancer Patients Treated with Radioiodine.
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Fernandes, Ana, Oliveira, Ana, Carvalho, Ana Luísa, Soares, Raquel, and Barata, Pedro
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Background: Faecalibacterium prausnitzii, one of the most important bacteria of the human gut microbiota, produces butyrate (a short-chain fatty acid). Short-chain fatty acids are known to influence thyroid physiology and thyroid cancer's response to treatment. We aimed to analyze the relative abundance of Faecalibacterium prausnitzii on the gut microbiota of differentiated thyroid cancer patients compared to controls and its variation after radioiodine therapy (RAIT). Methods: Fecal samples were collected from 37 patients diagnosed with differentiated thyroid cancer before and after radioiodine therapy and from 10 volunteers. The abundance of F. prausnitzii was determined using shotgun metagenomics. Results: Our study found that the relative abundance of F. prausnitzii is significantly reduced in thyroid cancer patients compared to volunteers. We also found that there was a mixed response to RAIT, with an increase in the relative and absolute abundances of this bacterium in most patients. Conclusions: Our study confirms that thyroid cancer patients present a dysbiotic gut microbiota, with a reduction in F. prausnitzii's relative abundance. In our study, radioiodine did not negatively affect F. prausnitzii, quite the opposite, suggesting that this bacterium might play a role in resolving radiation aggression issues. [ABSTRACT FROM AUTHOR]
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- 2023
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28. Genomic Landscape and Natural History of Sector Retinitis Pigmentosa
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Cortinhal, Telmo, Geada, Sara, Neves, Emmanuel, Carvalho, Ana Luísa, Saraiva, Jorge, Silva, Rufino, Murta, Joaquim, and Marques, João Pedro
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genetic structures ,Retinal Dystrophies ,Genotype-Phenotype Correlations ,Disease Progression ,Multimodal Imaging ,Retinitis Pigmentosa - Abstract
Introduction: Sector retinitis pigmentosa (sRP) is a rare, atypical, and milder variant of rod-cone degeneration. Despite historically associated with RHO gene, the mutational spectrum of sRP is evolving with multiple causative genes recently implicated. This study aimed to characterize the genotypes, phenotypes, and natural history of a Portuguese cohort of sRP. Methods: Retrospective, observational study, conducted at a tertiary referral center. Patients with a clinical diagnosis of sRP and available genetic testing results were identified using a web-based registry. The clinical diagnosis was established based on ophthalmologic examination, functional testing [best corrected visual acuity (BCVA) and visual field testing] and multimodal imaging [color fundus photography (CFP), fundus autofluorescence (FAF) and optical coherence tomography (OCT)]. Genetic testing was clinically oriented in all probands, and variants were classified according to the American College of Medical Genetics and Genomics. Only likely pathogenic or pathogenic variants were considered disease-causing. Clinical progression was evaluated throughout follow-up. Results: Fourteen patients from twelve families were included. Disease-causing variants in RP-related genes were identified in 8 families, for a diagnostic yield of 66.7%. EYS was the most frequently implicated gene (4 families), followed by RHO (2 families), and finally MYO7A and NPHP1 (1 family each). In most unsolved cases, no clinically significant variants were found. However, for one unsolved case, a RHO-associated variant of uncertain significance was identified. Two patients exhibited syndromic sRP. All cases were bilateral and symmetrical except for two. Inferior and/or nasal retinal involvement on FAF was noted in all cases. Visual field testing revealed superior field defects of varying extents, always in close association with observed FAF findings. Over a median follow-up of 32.5 months (range: 5-148 months), no significant differences were found on BCVA (p=0.056). In fact, BCVA remained stable and ≤ 0.20 LogMAR OU in 9/14 patients. Multimodal imaging revealed no progression over the available follow-up. Conclusion: This study highlights the genotypic heterogeneity of sRP in a Portuguese cohort. Inferior and nasal predilection was common across different genotypes, and a high proportion of patients maintained good central vision. The longitudinal data provided herein will help to accurately inform patients on prognosis., Introdução: A retinopatia pigmentar setorial (sRP) é uma forma rara, atípica e menos severa de distrofia de bastonetes-cones. Apesar de tipicamente associada ao gene RHO, o espetro mutacional da sRP está em evolução, com múltiplos novos genes recentemente associados. O objectivo deste estudo é caracterizar os genótipos, fenótipos e história natural da sRP numa coorte portuguesa. Métodos: Estudo retrospetivo, observacional. Identificámos doentes com diagnostico clínico de sRP e com resultados genéticos disponíveis. O diagnóstico clínico foi baseado no exame oftalmológico, avaliação funcional (acuidade visual corrigida e avaliação de campos visuais) e imagiologia retiniana multimodal (retinografia, autofluorescência do fundo ocular e tomografia de coerência ótica). O estudo genético foi direcionado com base na informação clínica e as variantes genéticas encontradas foram classificadas de acordo com orientações do American College of Medical Genetics and Genomics. Variantes patogénicas ou provavelmente patogénicas foram consideradas causadoras de doença. A progressão clínica foi avaliada ao longo do follow-up. Resultados: Foram incluídos 14 doentes (12 famílias). Foram identificadas variantes genéticas causadoras de doença em 8 famílias, resultando numa taxa de diagnostico de 66.7%. EYS foi o gene mais frequentemente encontrado (4 famílias), seguido de RHO (2 famílias) e finalmente MYO7A e NPHP1 (1 família cada). Num dos casos sem confirmação genética foi identificada uma variante de significado incerto no gene RHO. Dois pacientes exibiam sRP sindrómica. Todos os casos eram bilaterais e simétricos exceto dois. Na autofluorescência foi detetado envolvimento da retina nasal e/ou inferior em todos os doentes. Não se verificaram diferenças estatisticamente significativas (p=0.056) na melhor acuidade visual corrigida ao longo de um follow-up mediano de 32.5 meses (variação: 5-148 meses). A visão manteve-se estável e ≤ 0.20 LogMAR OU em 9/14 doentes. Não foi detetada progressão em imagem multimodal ao longo do follow-up disponível. Conclusão: Este estudo destaca a heterogeneidade genotípica da sRP numa coorte portuguesa. Envolvimento inferior e nasal foi comum a todos os casos e uma grande parte dos doentes manteve uma boa acuidade visual. Os dados apresentados serão uteis para aconselhar os pacientes em relação ao prognostico desta doença.
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- 2022
29. Molecular and Multimodal Retinal Imaging Findings in a Multicentric Portuguese Cohort of Stargardt Disease
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Geada, Sara, Santos, Cristina, Vaz-Pereira, Sara, Marta, Ana, Correia, Marta, Sousa, Keissy, Soares, Mário, Carvalho, Ana Luísa, Saraiva, Jorge, Murta, Joaquim, Silva, Rufino, Coutinho Santos, Luísa, and Marques, João Pedro
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Phenotype ,Genotype ,Genótipo ,Fenótipo ,Retinal Dystrophies ,Stargardt Disease ,Genetic Testing ,Distrofias da Retina ,Doença de Stargardt ,Estudo Genético - Abstract
Introduction Our purpose was to describe the molecular and multimodal retinal imaging findings in a cohort of Portuguese patients with a clinical diagnosis of Stargardt Disease (STGD1). Methods Multicenter, cross sectional cohort study of consecutive patients with a clinical diagnosis of STGD1, referred from six Portuguese centers. All patients underwent a complete ophthalmological examination complemented by color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (SD-OCT) and, when available, OCT-angiography (OCTA). Probands with confirmed molecular diagnosis, defined as presenting biallelic mutations classified as pathogenic or likely pathogenic in accordance with the guidelines of the American College of Medical Genetics and Genomics, were divided into three groups according their genotype’s severity. Results The study included 122 eyes from 61 patients, 54 of which unrelated. Mean age of onset (AO) and mean disease duration were 16.64±12.87 and 20.04±15.21 years, respectively. Confirmed molecular diagnosis was obtained for 26/38 families with available genetic results (diagnostic yield of 68.42%), with the c.1804C>T (p.Arg602Trp) missense variant being the most prevalent (8/26). The less severe genotype group (Group C) was the most frequent (14/26), with a mean AO slightly superior, not statistically significant, to the other groups (B and A). The most frequent CFP pattern was central atrophy with macular and/or peripheral flecks (56 eyes), followed by multiple extensive atrophic changes (n=40). On FAF, 21.05% of the eyes showed a homogeneous background with localized central hypoAF (pattern 1), with the remaining distributing equally through patterns 2 (heterogeneous background of hypo/hyperAF foci and localized central hypoAF) and 3 (multiple areas of hypoAF in a heterogeneous background). Worse visual acuity significantly correlated with advanced CFP and FAF patterns (both p, Introdução O nosso objetivo foi caracterizar os achados moleculares e de imagiologia multimodal numa população portuguesa com doença de Stargardt (STGD1). Métodos Estudo transversal, multicêntrico que incluiu doentes consecutivos com diagnóstico clínico de STGD1, provenientes de seis centros nacionais. Todos os doentes foram submetidos a um exame oftalmológico completo complementado por imagiologia multimodal - retinografia, autofluorescência do fundo (FAF), tomografia de coerência ótica (SD-OCT) e, quando disponível, angiografia por OCT (OCTA). Indivíduos com confirmação molecular, definida pela presença de mutações bialélicas classe IV ou V, foram divididos em 3 grupos de acordo com a gravidade do respetivo genótipo. Resultados Foram incluídos 122 olhos de 61 doentes, 54 dos quais sem relação de parentesco. A idade média de início (AO) e a duração média da doença foram 16,64±12,87 e 20,04±15,21 anos, respetivamente. O diagnóstico molecular foi obtido para 26/38 famílias com estudo genético disponível (rendimento diagnóstico 68,42%), sendo a variante missense c.1804C> T (p.Arg602Trp) a mais prevalente (8/26). O grupo de genótipo menos grave (Grupo C) foi o mais frequente (14/26), com uma média de AO ligeiramente superior aos grupos A e B, embora não estatisticamente significativa. Na retinografia, o padrão mais frequente foi o de atrofia central com manchas amareladas maculares e/ou periféricas (56 olhos). Na FAF, 21,05% dos olhos apresentaram hipoAF central num fundo homogéneo (padrão 1), com os restantes distribuindo-se equitativamente pelos padrões 2 (focos de hipo/hiperAF e hipoAF central distribuídos por um fundo heterogéneo) e 3 (áreas múltiplas de hipoAF num fundo heterogéneo). Uma pior acuidade visual correlacionou-se com padrões avançados na retinografia e FAF (p
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- 2022
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30. Structural Characterization of Neisseria gonorrhoeae Bacterial Peroxidase—Insights into the Catalytic Cycle of Bacterial Peroxidases.
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Nóbrega, Cláudia S., Carvalho, Ana Luísa, Romão, Maria João, and Pauleta, Sofia R.
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NEISSERIA gonorrhoeae , *PEROXIDASE , *SEXUALLY transmitted diseases , *MULTIENZYME complexes , *FAMILY structure , *HYDROGEN peroxide , *NEISSERIA - Abstract
Neisseria gonorrhoeae is an obligate human pathogenic bacterium responsible for gonorrhea, a sexually transmitted disease. The bacterial peroxidase, an enzyme present in the periplasm of this bacterium, detoxifies the cells against hydrogen peroxide and constitutes one of the primary defenses against exogenous and endogenous oxidative stress in this organism. The 38 kDa heterologously produced bacterial peroxidase was crystallized in the mixed-valence state, the active state, at pH 6.0, and the crystals were soaked with azide, producing the first azide-inhibited structure of this family of enzymes. The enzyme binds exogenous ligands such as cyanide and azide, which also inhibit the catalytic activity by coordinating the P heme iron, the active site, and competing with its substrate, hydrogen peroxide. The inhibition constants were estimated to be 0.4 ± 0.1 µM and 41 ± 5 mM for cyanide and azide, respectively. Imidazole also binds and inhibits the enzyme in a more complex mechanism by binding to P and E hemes, which changes the reduction potential of the latest heme. Based on the structures now reported, the catalytic cycle of bacterial peroxidases is revisited. The inhibition studies and the crystal structure of the inhibited enzyme comprise the first platform to search and develop inhibitors that target this enzyme as a possible new strategy against N. gonorrhoeae. [ABSTRACT FROM AUTHOR]
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- 2023
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31. Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1 -Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
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Geada, Sara, Teixeira-Marques, Francisco, Teixeira, Bruno, Carvalho, Ana Luísa, Lousan, Nuno, Saraiva, Jorge, Murta, Joaquim, Silva, Rufino, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Dhaenens, Claire-Marie, Blanchet, Catherine, Meunier, Isabelle, and Marques, João Pedro
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RETINITIS pigmentosa ,MISSENSE mutation ,MOLECULAR spectra ,SMELL disorders ,RETINAL degeneration ,RECESSIVE genes ,PHENOTYPES - Abstract
CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients with molecularly confirmed CNGB1-related RP were included. All patients underwent a complete ophthalmological examination complemented by psychophysical olfactory evaluation. Fifteen patients (10 families: 8 Portuguese, 1 French, and 1 Turkish), mean aged 57.13 ± 15.37 years old (yo), were enrolled. Seven disease-causing variants were identified, two of which are reported for the first time: c.2565_2566del and c.2285G > T. Although 11/15 patients reported onset of nyctalopia before age 10, diagnosis was only established after 30 yo in 9/15. Despite widespread retinal degeneration being present in 14/15 probands, a relatively preserved visual acuity was observed throughout follow-up. Olfactory function was preserved in only 4/15 patients, all of whom carried at least one missense variant. Our study supports previous reports of an autosomal recessive RP-olfactory dysfunction syndrome in association with certain disease-causing variants in the CNGB1 gene and expands the mutational spectrum of CNGB1-related disease by reporting two novel variants. [ABSTRACT FROM AUTHOR]
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- 2023
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32. Structural insights into a unique cellulase fold and mechanism of cellulose hydrolysis
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Brás, Joana L. A., Cartmell, Alan, Carvalho, Ana Luísa M., Verzé, Genny, Bayer, Edward A., Vazana, Yael, Correia, Márcia A. S., Prates, José A. M., Ratnaparkhe, Supriya, Boraston, Alisdair B., Romão, Maria J., Fontes, Carlos M. G. A., Gilbert, Harry J., and Demain, Arnold L.
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- 2011
33. Evidence for a Dual Binding Mode of Dockerin Modules to Cohesins
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Carvalho, Ana Luísa, Dias, Fernando M. V., Nagy, Tibor, Prates, José A. M., Proctor, Mark R., Smith, Nicola, Bayer, Edward A., Davies, Gideon J., Ferreira, Luís M. A., Romão, Maria J., Fontes, Carlos M. G. A., and Gilbert, Harry J.
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- 2007
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34. Clinical outcomes and prognostic factors of head and neck squamous cell carcinoma: a ten-year follow-up study.
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DIAS, Kelly Bienk, HILDEBRAND, Laura Campos, de CARVALHO, Ana Luísa Homem, FERRI, Camila Alves, NÖR, Jacques Eduardo, CERSKI, Carlos Thadeu Schmidt, VISIOLI, Fernanda, OLIVEIRA, Márcia Gaiger, and RADOS, Pantelis Varvaki
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SQUAMOUS cell carcinoma ,PROGNOSIS ,TREATMENT effectiveness ,OVERALL survival ,HEAD & neck cancer - Abstract
Traditional guidelines for determining the prognosis of patients with head and neck squamous cell carcinoma (HNSCC) are used to make therapeutic decisions. However, only 50% of the patients had lived for more than five years. The present study aimed to analyze the correlation of traditional prognostic factors such as tumor size, histological grading, regional metastases, and treatment with the survival of patients with HNSCC. A total of 78 patients diagnosed with HNSCC were followed up for 10 years after diagnosis and treatment. The health status of the patients was tracked at four time points, and according to the evolution of the patients and their final clinical status, we performed a prognostic analysis based on the clinical outcomes observed during the follow-up period. The final study cohort comprised 50 patients. Most patients had tumors < 4 cm in size (64%) and no regional metastases (64%); no patients had distant metastases at the time of diagnosis. Most individuals had tumors with good (48%) and moderate (46%) degrees of malignancy. At the end of the follow-up period, only 14% of the patients were discharged, 42% died of the tumor, and 44% remained under observation owing to the presence of a potentially malignant disorder, relapse, or metastases. This analysis showed that traditional prognostic factors were not accurate in detecting subclinical changes or predicting the clinical evolution of patients. [ABSTRACT FROM AUTHOR]
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- 2023
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35. Una rara presentación de tumor odontogénico de células granulares central
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Koth, Valesca Sander, da Silva, João Antônio Colussi, Carvalho, Ana Luísa Homem, Payeras, Marcia Rodrigues, and Maito, Fábio Luiz dal Moro
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The central granular cell odontogenic tumor (CGCOT) is a rarely seen neoplasm of odontogenic origin with a predilection for mandible of middle aged women. The lesion shows slow growing and radiographic feature of a radiolucent unilocular lesion with a radiopaque border. The present study aims to report a new case of CGCOT with an atypical involvement of anterior maxilla. Clinical exam showed swelling of the hard palate and the vestibular area of left canine and pre-molar of maxilla. Cone beam computed tomography showed a hypodense unilocular well delimited lesion extending from central left incisive to left pre-molar region. Histopathological analysis showed granular eosinophilic cells and islands of odontogenic epithelium and positive immunostaining for CK14, vimentin, CD68, Ki67 and S-100, which established the diagnosis of CGCOT. The patient is under follow-up without recurrence for sixteen months. El tumor odontogénico de células granulares central (TOCGC) es una neoplasia odontogénica rara con predilección por la mandíbula de las mujeres de edad mediana. La lesión muestra un crecimiento lento y una característica radiográfica de una lesión radiolúcida unilocuclar con bordes escleróticos. El objetivo del presente estudio es reportar un nuevo caso de TOCGC con envolvimiento atípico del maxilar anterior. El examen clínico mostró aumento de volumen del paladar duro y el área vestibular del canino izquierdo y premolar del maxilar superior. La tomografía computarizada de haz cónico mostró una lesión unilocular hipodensa bien delimitada que se extendía del incisivo central izquierdo a la región premolar izquierda. El análisis histopatológico mostró células eosinofílicas granulares e islas de epitelio odontogénico e inmunotinción positiva para CK14, vimentina, CD68, Ki67 y S-100, lo que estableció el diagnóstico de TOCGC. El paciente está en seguimiento sin recidiva durante dieciséis meses.
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- 2021
36. Sleep quality and bullying – prevalence in a cohort of Portuguese students.
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Carvalho, Fábia, Vilaça, Joana, Carvalho, Ana Luísa, Pontes, Teresa, and Carvalho, Susana
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- 2022
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37. Exploitation of new chromene-based compounds as promising agents for cancer treatment
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Carvalho, Ana Luísa Queirós, Costa, Marta Sílvia Freitas, Proença, M. Fernanda R. P., and Universidade do Minho
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Lead compound ,Breast cancer ,Compostos lead ,Ciências Naturais::Outras Ciências Naturais ,Cromenos ,Cancro da mama ,Cancer ,Chromenes ,Cancro - Abstract
Dissertação de mestrado em Applied Biochemistry (área de especialização em Biomedicine), Cancer is a devastating disease, responsible for 9.9 million deaths worldwide in 2020. Female breast cancer is the most diagnosed cancer and with the highest mortality rate. The statistics show that this tendency will continue to rise in the next years, becoming urgent the development of new and more effective drugs capable to overcome resistance and toxicity problems, associated to the current available therapies. The chromene moiety has been recognized in several natural and synthetic compounds, exhibiting very interesting biological activities, namely anticancer activity. The present work aimed to assess the anticancer potential of two synthesized chromene-based family – FD and DL-chromene-based compounds, in the breast cancer cell model. The anticancer potential of the FD-chromene-based compounds was evaluated through a first screening of the compounds in different BC cell lines. Chromenes displaying the best activity profile proceeded to IC50 determination and in vitro and in vivo toxicity assays, using a non-neoplastic cell line (MCF-10A) and the Caenorhabditis elegans model, proving their non-toxic profile. To study their mechanism of action, more specific in vitro assays were conducted and the results showed the ability of the compounds to induce cell death through apoptosis, cell cycle arrest, to inhibit cell migration, proliferation and to interfere with key enzymes in the glycolytic process. Lastly, two lead compounds were identified and the Chick Chorioallantoic Membrane (CAM) model was used for in vivo efficacy studies. The analyzed chromenes were able to inhibit tumor proliferation and angiogenesis, evidencing their potential as anticancer drug candidates. The anticancer potential regarding DL-chromene-based compounds was initiated in a previous project. In the present work, three of the most promising molecules were selected to investigate their influence in the expression levels of proteins related to cell death and metabolism, to characterize their mechanism of action. The results showed that the chromenes were able to induce cell death through apoptosis as well as to reduce the expression levels of multiple key enzymes involved in the glycolytic process., O cancro é uma doença devastadora responsável globalmente por 9.9 milhões de mortes em 2020. O cancro da mama é o mais diagnosticado e mortal nas mulheres. Esta tendência vai continuar a aumentar nos próximos anos, tornando-se urgente o desenvolvimento de novas moléculas mais eficazes, capazes de ultrapassar os problemas de resistência e toxicidade associados às terapias atualmente usadas. O núcleo de cromeno foi reconhecido em múltiplos compostos naturais e sintéticos que exibem atividades biológicas interessantes, nomeadamente atividade anticancerígena. Este trabalho teve como objetivo avaliar o potencial anticancerígeno no modelo de células do cancro da mama de duas famílias de compostos sintetizadas no grupo de investigação, com base na unidade de cromeno (compostos FD e DL). O potencial anticancerígeno da família de compostos FD foi avaliada através de um primeiro screening dos compostos em diferentes linhas celulares do cancro da mama. Os cromenos que mostraram um perfil de atividade mais promissor, prosseguiram para ensaios de determinação de IC50 e toxicidade in vitro e in vivo, usando uma linha celular não neoplásica (MCF-10A) e o modelo Caenorhabditis elegans, provando ter um perfil seguro. De seguida, para estudar o seu mecanismo de ação, ensaios in vitro mais específicos foram realizados, mostrando a capacidade para induzir morte celular por apoptose, paragem do ciclo celular, inibição da migração, proliferação celular e interferência com enzimas-chave envolvidas no processo glicolítico. Por último, foram identificados dois compostos lead e o modelo da membrana corioalantóica de embrião de galinha (CAM) foi usada para estudar o perfil de eficácia in vivo. Estes cromenos demonstraram a capacidade de inibir a proliferação tumoral e angiogénese, evidenciando o seu potencial como agentes anticancerígenos. O perfil anticancerígeno dos cromenos DL já tinham sido iniciado num projeto anterior. Neste trabalho, as três moléculas mais promissoras foram selecionadas para investigar o nível de expressão de proteínas associadas à morte e metabolismo celular. Os resultados obtidos mostraram que os cromenos foram capazes de induzir morte celular por apoptose, assim como reduzir a expressão de várias enzimas-chave envolvidas no processo glicolítico.
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- 2021
38. Protein crystallization in a microfluidic contactor with Nafion®117 membranes
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Fundação para a Ciência e a Tecnologia (Portugal), Ministério da Ciência, Tecnologia e Ensino Superior (Portugal), European Commission, Polino, M., Rho, Hoon Suk, Pina, María Pilar, Mallada, Reyes, Carvalho, Ana Luísa, Romão, Maria João, Coelhoso, Isabel M., Gardeniers, Han, Crespo, João G., Portugal, Carla A. M., Fundação para a Ciência e a Tecnologia (Portugal), Ministério da Ciência, Tecnologia e Ensino Superior (Portugal), European Commission, Polino, M., Rho, Hoon Suk, Pina, María Pilar, Mallada, Reyes, Carvalho, Ana Luísa, Romão, Maria João, Coelhoso, Isabel M., Gardeniers, Han, Crespo, João G., and Portugal, Carla A. M.
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Protein crystallization still remains mostly an empirical science, as the production of crystals with the required quality for X-ray analysis is dependent on the intensive screening of the best protein crystallization and crystal’s derivatization conditions. Herein, this demanding step was addressed by the development of a high-throughput and low-budget microfluidic platform consisting of an ion exchange membrane (117 Nafion® membrane) sandwiched between a channel layer (stripping phase compartment) and a wells layer (feed phase compartment) forming 75 independent micro-contactors. This microfluidic device allows for a simultaneous and independent screening of multiple protein crystallization and crystal derivatization conditions, using Hen Egg White Lysozyme (HEWL) as the model protein and Hg2+ as the derivatizing agent. This microdevice offers well-regulated crystallization and subsequent crystal derivatization processes based on the controlled transport of water and ions provided by the 117 Nafion® membrane. Diffusion coefficients of water and the derivatizing agent (Hg2+) were evaluated, showing the positive influence of the protein drop volume on the number of crystals and crystal size. This microfluidic system allowed for crystals with good structural stability and high X-ray diffraction quality and, thus, it is regarded as an efficient tool that may contribute to the enhancement of the proteins’ crystals structural resolution.
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- 2021
39. Directed differentiation of human pluripotent stem cells into mature lung epithelium in-vitro
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Carvalho, Ana Luísa Rodrigues Toste de, Snoeck, Hans-Willem, Correia-Pinto, Jorge, and Universidade do Minho
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Diferenciação ,Ciências Médicas::Medicina Básica ,Directed differentiation ,Células estaminais ,Human lung development ,Desenvolvimento pulmonar humano ,GSK3 ,hPSCs - Abstract
Tese de doutoramento em Medicina, As doenças de foro respiratório são altamente prevalentes a nível mundial, encontrando-se no grupo das doenças mais fatais em países desenvolvidos. Epitélio pulmonar gerado in-vitro a partir de células estaminais pluripotentes humanas tem aplicações em medicina regenerativa, no estabelecimento de novos modelos de doença, ensaios farmacológicos pré-clínicos e estudo do desenvolvimento humano. Neste trabalho descrevemos uma estratégia para gerar células da via aérea e alveolares maturas a partir de células estaminais pluripotentes humanas. Seguimos os paradigmas do desenvolvimento para gerar progenitores pulmonares (PPs) a partir das células estaminais e descobrimos que a glycogen synthase kinase 3 (GSK3) desempenha um papel central no balanço entre expansão de progenitores e a sua maturação em multi-linhagem. É importante realçar que a maioria das células geradas através do nosso método exibia características similares a células pulmonares pós-natais. Para além disso, o nosso modelo permitiu inferir um novo mecanismo envolvido no desenvolvimento pulmonar humano. Demonstramos que o efeito da inibição da maturação pela GSK3 no seu estado inibido é em parte devido à regulação do ciclo celular. Em culturas libertadas da inibição da GSK3, a via de sinalização NOTCH favorece a maturação dos PPs em populações epiteliais distais, inibindo as mais proximais, enquanto que a via WNT promove a maturação de células de Clara, implicando desta forma ambas as vias de sinalização no processo de especificação proximo-distal do epitélio pulmonar. Finalmente, demonstramos que o modelo desenvolvido é passível de ser utilizado com plataforma para desenvolvimento de modelos de doença respiratória humana e que poderá ser uma ferramenta importante para estudos sobre a fisiologia e importância de populações epiteliais pulmonares raras., Respiratory diseases are highly prevalent worldwide and consistently rank within the group of the most fatal diseases in developed countries. Lung epithelium generated in-vitro from human pluripotent stem cells (hPSCs) has tremendous potential for applications in regenerative medicine, disease modeling, pre-clinical drug screenings and the study of human development. Here we describe a strategy to derive mature airway and alveolar lung epithelium from hPSCs. We followed developmental cues to derive hPSCs towards lung progenitors (LPs) and found that glycogen synthase kinase 3 (GSK3) plays a central role in the balance between progenitor expansion and multilineage maturation of LPs. Importantly, the majority of the cells generated by our method exhibited characteristics similar to those found in postnatal human lungs. Our model offers novel mechanistic insight into human lung development. We show that the maturation inhibiting effects of GSK3 inhibition (GSK3i) in our cultures is partly due to cell cycle regulation. In addition, upon release of GSK3i, NOTCH signaling induces a distal cell fate at the expense of proximal and ciliated cell fates, whereas WNT signaling promotes a proximal club cell fate, implicating both signaling pathways in proximodistal specification of the human lung. Finally, we demonstrate that the model we developed is suitable for modelling of human respiratory diseases and could be a valuable tool to study the physiology and relevance of rare lung epithelium populations., National Institutes of Health (HL120046 and 1U01HL134760), the Thomas R Kully IPF Research Fund and the Portuguese Science Foundation (FCT) (PD/BD/52320/2013).
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- 2020
40. Estratégias do enfermeiro no estímulo à paternidade ativa no pré-natal
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Santos, Natália Nária da Silva, Silva, Karine Botelho da, Costa, Dayana Cardoso, Ferraz, Victor Hugo Gomes, Carvalho, Ana Luísa de Souza, Tavares, Marli Rodrigues, Moraes, Érica Brandão de, Nassar, Pedro Ruiz Barbosa, and Messias, Cláudia Maria
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Health services administration ,Atención prenatal ,paternidade ,administração de serviços de saúde ,Paternidad ,Paternity ,cuidado pré-natal ,Paternidade ,gestão em saúde ,lcsh:Social Sciences ,Políticas públicas de salud ,Políticas públicas de saúde ,Atención primaria de salud ,Health management ,lcsh:Science (General) ,políticas públicas de saúde ,Primary health care ,lcsh:LC8-6691 ,lcsh:Special aspects of education ,Gestão em saúde ,Cuidado pré-natal ,Administração de serviços de saúde ,Atenção primária à saúde ,lcsh:H ,Public Health policy ,Administración de los servicios de salud ,Prenatal care ,Gestión en salud ,atenção primária à saúde ,lcsh:Q1-390 - Abstract
Objective: to analyze in the scientific literature the managerial strategies of nurses in stimulating active fatherhood in prenatal care in primary care. Method: this is an integrative review, with a 7-year time frame, in which the descriptors were used: Primary Care, Paternity, prenatal care, health services administration, whose languages were English and Portuguese. Studies from all countries were included for a sample. The searches were carried out in the databases: Medline, Lilacs, Bdenf through the Virtual Health Library (VHL) and Cinahl. Results: 2840 articles were found, of which were selected according to criteria 48. After analyzing the studies, it was observed that the practice of using: formal and informal invitations, lectures, electronic materials, pamphlets, competitions, prizes and training to encourage active parenting in prenatal care. Conclusion: there was a lack of management strategies designed specifically by nurses to establish greater adherence to active parenting, the existence of different programs with the multiprofessional team are still insufficient for adherence to prenatal care. Being of paramount importance to encourage the development of more inclusive actions. Objetivo: analizar en la literatura científica las estrategias gerenciales de las enfermeras para estimular la paternidad activa en la atención prenatal en atención primaria. Método: esta es una revisión integradora, con un marco de tiempo de 7 años, en la que se utilizaron los descriptores: Atención primaria, Paternidad, atención prenatal, administración de servicios de salud, cuyos idiomas fueron inglés y portugués. Se incluyeron estudios de todos los países para una muestra. Las búsquedas se llevaron a cabo en las bases de datos: Medline, Lilacs, Bdenf a través de la Biblioteca Virtual en Salud (BVS) y Cinahl. Resultados: se encontraron 2840 artículos, de los cuales se seleccionaron de acuerdo con el criterio 48. Después de analizar los estudios, se observó que la práctica de usar: invitaciones formales e informales, conferencias, materiales electrónicos, folletos, concursos, premios y capacitación para fomentar la crianza activa durante la atención prenatal. Conclusión: hubo una falta de estrategias de manejo diseñadas específicamente por las enfermeras para establecer una mayor adherencia a la crianza activa, la existencia de diferentes programas con el equipo multiprofesional aún es insuficiente para la adherencia a la atención prenatal. Ser de suma importancia para fomentar el desarrollo de acciones más inclusivas. Objetivo: analisar na literatura científica as estratégias gerenciais do enfermeiro no estímulo à paternidade ativa no pré-natal na atenção básica. Método: trata-se de uma revisão integrativa, com recorte temporal de 7 anos, em que foram utilizados os descritores: Atenção Primária, Paternidade, cuidado pré-natal, administração de serviços de saúde, cujos idiomas fossem inglês e português. Foram incluídos estudos de todos os países para uma amostra. As buscas foram realizadas nas bases de dados: Medline, Lilacs, Bdenf por meio da Biblioteca Virtual de Saúde (BVS) e Cinahl. Resultados: encontraram-se 2840 artigos, dos quais foram selecionados segundo os critérios 48. Após análise dos estudos, observou-se que foram utilizados como estratégias de abordagem a prática do uso de: convites formais e informais, palestras, materiais eletrônicos, panfletos, gincanas, prêmios e treinamentos para o estímulo à paternidade ativa no pré-natal. Conclusão: faltaram estratégias gerenciais elaboradas especificamente por enfermeiros para estabelecer uma maior adesão à paternidade ativa, a existência de diferentes programas com a equipe multiprofissional ainda é insuficiente para a adesão ao pré-natal. Sendo de suma importância o incentivo ao desenvolvimento de ações mais inclusivas.
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- 2020
41. Synthesis, crystal structure, and DFT study of two new dinuclear copper(I) complexes bearing Ar-BIAN ligands functionalized with NO2 groups
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Outis, Mani, Rosa, Vitor, Laia, César A.T., Lima, João Carlos, Barroso, Sonia, Carvalho, Ana Luísa, Calhorda, Maria José, and Avilés, Teresa
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Synthesis ,Crystal structure ,Functionalized Ar-BIAN ,Copper(I) ,Density function calculations - Abstract
Submitted by Ilda Lopes (ilda.lopes@ipleiria.pt) on 2021-08-13T14:42:10Z No. of bitstreams: 1 Outis et al_2020_European Journal of Inorganic Chemistry.pdf: 3308382 bytes, checksum: e92c35aa33281eda5739dd4815a6f372 (MD5) Made available in DSpace on 2021-08-20T13:55:53Z (GMT). No. of bitstreams: 1 Outis et al_2020_European Journal of Inorganic Chemistry.pdf: 3308382 bytes, checksum: e92c35aa33281eda5739dd4815a6f372 (MD5) Previous issue date: 2020 info:eu-repo/semantics/publishedVersion
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- 2020
42. The first crystal structure of class III superoxide reductase from Treponema pallidum
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Santos-Silva, Teresa, Trincão, José, Carvalho, Ana Luísa, Bonifácio, Cecília, Auchère, Françoise, Raleiras, Patrícia, Moura, Isabel, Moura, José J. G., and Romão, Maria João
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- 2006
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43. Peyronie’s disease: the importance of identifying to reassure
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Guimarães, Ana Carla, Brandão, Vera, Carvalho, Ana Luísa, and Costa, Sílvia Orange
- Subjects
Penile curvature ,Curvatura peniana ,Peyronie’s disease ,Doença de Peyronie - Abstract
Introdução: A doença de Peyronie é uma patologia do tecido conjuntivo peniano que se caracteriza pela presença de tecido fibroso na túnica albugínea dos corpos cavernosos, podendo surgir dor e deformidade durante a ereção. Por se tratar de uma doença do foro sexual é muitas vezes ocultada pelo paciente, embora seja causa de muita angústia e frustração. De facto, patologias caracterizadas pela formação de massas palpáveis ou tumefações são muitas vezes associadas a doenças oncológicas, pelo que os doentes com doença de Peyronie vivem muitas vezes no sobressalto de poder ter um tumor do pénis. O objetivo deste relato de caso prende-se com a importância de o médico de família reconhecer esta patologia, o seu caráter benigno e qual a abordagem mais adequada, por forma a tranquilizar o doente e a família. Descrição do caso: Doente de 57 anos, sexo masculino, hipertenso sem outros antecedentes patológicos de relevo. Recorre à consulta de saúde de adultos por sintomas ansiosos, sem motivo evidente. Durante a anamnese cuidada e em consultas de seguimento refere preocupação com a sua performance sexual, uma vez que, durante a ereção, que não seria tão exuberante como habitual, o pénis apresentaria uma curvatura, com concavidade para a direita. Sem outros sintomas genito-urinários ou outros. Realizou ecografia peniana cujo resultado foi compatível com doença de Peyronie. Perante o diagnóstico, o doente optou por uma atitude expectante. Meses depois apresenta melhoria dos sintomas ansiosos, doença de Peyronie estabilizada e atividade sexual satisfatória. Comentário: A doença de Peyronie é uma doença benigna, cuja etiologia ainda não é completamente conhecida. O diagnóstico é essencialmente clínico, embora frequentemente se recorra à ecografia peniana. Diferentes tratamentos médicos têm sido testados sem eficácia comprovada, pelo que o tratamento de eleição é cirúrgico. Enquanto médicos de família, é importante que sejamos capazes de informar e tranquilizar devidamente, de forma a evitar ciclos viciosos de consultas, exames e tratamentos sem sucesso. Introduction: Peyronie’s disease is a connective tissue illness characterized by the presence of fibrous tissue in the tunica albuginea of the corpora cavernosa. This condition may cause pain and deformity during erection. Being a sexual disease is often hidden by the patient, although it is a cause of much anxiety and frustration. Diseases characterized by the formation of tumefactions are often associated with cancer, therefore Peyronie’s disease patients are often afraid of having a penile tumor. The purpose of this case report is to show not only the importance of a family doctor on the recognition of this pathology but also its importance on deciding what the most appropriate approach is in order to tranquilize the patient and family. Case report: Male, 57 years old, personal history of arterial hypertension, without another relevant pathological history. He goes to the doctor because of anxious symptoms, for no obvious reason. He mentions concerns about his sexual performance because, during the erection, which would not be as exuberant as usual, the penis would present a curve with concavity to the right. No other symptoms. The penile ultrasound showed images compatible with Peyronie’s disease. The patient opted for an expectant attitude. Months later, the anxiety symptoms have improved, Peyronie’s disease has stabilized and his sexual activity is satisfactory. Comment: Peyronie’s disease is a benign disease whose etiology is not yet fully known. The diagnosis is essentially clinical, although a penile ultrasound is often used. Different medical treatments have been tested without proven effectiveness, so the gold standard treatment is surgery. As a family doctor, it is important to be able to inform and reassure the patients in order to avoid unsuccessful cycles of consultation, testing and treatment.
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- 2019
44. NPY in rat retina is present in neurons, in endothelial cells and also in microglial and Müller cells
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Álvaro, Ana Rita, Rosmaninho-Salgado, Joana, Santiago, Ana Raquel, Martins, João, Aveleira, Célia, Santos, Paulo F., Pereira, Tiago, Gouveia, Denisa, Carvalho, Ana Luísa, Grouzmann, Eric, Ambrósio, António Francisco, and Cavadas, Cláudia
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- 2007
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45. Regulation of AMPA Receptor Activity, Synaptic Targeting and Recycling: Role in Synaptic Plasticity
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Gomes, André R., Correia, Susana S., Carvalho, Ana Luísa, and Duarte, Carlos B.
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- 2003
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46. LARVA MIGRANS IN THE ORAL CAVITY - A DIAGNOSTIC CHALLENGE.
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KOTH, Valesca Sander, SALUM, Fernanda Gonçalves, de FIGUEIREDO, Maria Antonia Zancanaro, de CARVALHO, Ana Luísa Homem, MAITO, Fábio Luiz Dal Moro, PAYERAS, Marcia Rodrigues, and CHERUBINI, Karen
- Abstract
This ca se study presents a 36-year-old female patient who experienced itching and painful lesions that seemed to "move around the mouth." The condition displayed a cyclical pattern, with lesions coming and going over seven months. Clinical examination revealed swelling and erythema on the lip and buccal mucosa, along with serpiginous tracks. After a thorough evaluation, the patient received a diagnosis of oral larva migrans, and the lesions resolved following the administration of ivermectin. At an 18-month follow-up, there were no signs of recurrence. Larva migrans is a parasitic infection that rarely affects the oral mucosa, posing a diagnostic challenge in oral healthcare and causing distress for the patient. Oral health professionals should remain vigilant and consider this condition as a potential differential diagnosis for erythematous oral lesions. [ABSTRACT FROM AUTHOR]
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- 2024
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47. Clinical/Demographic Functional Testing and Multimodal Imaging Differences between Genetically Solved and Unsolved Retinitis Pigmentosa.
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Marques, João Pedro, Marta, Ana, Geada, Sara, Carvalho, Ana Luísa, Menéres, Pedro, Murta, Joaquim, Saraiva, Jorge, and Silva, Rufino
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RETINITIS pigmentosa ,MEDICAL genetics ,MEDICAL genomics ,GENETIC testing ,RETINAL degeneration - Abstract
Introduction: The purpose of this study was to compare clinical/demographic functional testing and multimodal imaging features between genetically solved and genetically unsolved nonsyndromic retinitis pigmentosa (nsRP) patients. Methods: A cross-sectional study was conducted at an inherited retinal dystrophies reference center. Consecutive patients with nsRP and available genetic testing results performed between 2018 and 2020 were included. Genetic testing was clinically oriented, and variants were classified according to the American College of Medical Genetics and Genomics. Only class IV or V variants were considered disease-causing. Clinical/demographic, functional, and imaging features were compared between genetically unsolved (G1) and genetically solved (G2) patients. Results: A total of 175 patients (146 families) were included: 68 patients (59 families) in G1 and 107 patients (87 families) in G2. First symptoms <25 years, consanguinity, evidence for a particular inheritance pattern, and the absence of indicators for phenocopies were significantly more prevalent in G2. No significant differences were observed on best-corrected visual acuity. The visual field index and mean central retinal layer thickness were significantly higher in G1. The frequency of atypical features on multimodal imaging did not differ between groups. Conclusion: Individual clinical/demographic functional testing and multimodal imaging features should be considered when counseling patients about the probability of identifying disease-causing variants. [ABSTRACT FROM AUTHOR]
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- 2022
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48. Tackling Humidity with Designer Ionic Liquid‐Based Gas Sensing Soft Materials.
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Esteves, Carina, Palma, Susana I. C. J., Costa, Henrique M. A., Alves, Cláudia, Santos, Gonçalo M. C., Ramou, Efthymia, Carvalho, Ana Luísa, Alves, Vitor, and Roque, Ana C. A.
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- 2022
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49. Purification of a novel aminopeptidase from the pollen of Parietaria judaica that alters epithelial integrity and degrades neuropeptides
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Cortes, Luísa, Carvalho, Ana Luísa, Todo-Bom, Ana, Faro, Carlos, Pires, Euclides, and Veríssimo, Paula
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- 2006
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50. Regulation of AMPA Receptors by Phosphorylation
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Carvalho, Ana Luísa, Duarte, Carlos B., and Carvalho, Arsélio P.
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- 2000
- Full Text
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