Corinne De Laet, Carlo Dionisi‐Vici, James V. Leonard, Patrick McKiernan, Grant A. Mitchell, Lidia Monti, Hélène Ogier de Baulny, Guillem Pintos‐Morell, Ute Spiekerkötter,
Abstract The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy. In this review detailed recommendations for the management are made based on expert opinion, published case reports and investigational studies as the evidence base is limited and there are no prospective controlled studies. The added value of this paper is that it summarises in detail ...
Tópico(s): Diet and metabolism studies
2013 - BioMed Central | Orphanet Journal of Rare Diseases
Ute Spiekerkoetter, María L. Couce, Anibh M. Das, Corinne De Laet, Carlo Dionisi‐Vici, Allan M. Lund, Manuel Schiff, Marco Spada, Erik Sparve, Johan Szamosi, Roshni Vara, Mattias Rudebeck,
Background Since the EU approval of nitisinone in 2005, prognosis for patients with hereditary tyrosinaemia type 1 has changed dramatically, with patients living with the disease now reaching adulthood for the first time in history. This study aimed to assess the long-term safety and outcomes of nitisinone treatment in patients with hereditary tyrosinaemia type 1. Methods We did a non-interventional, non-comparative, multicentre study in 77 sites across 17 countries in Europe and collected retrospective ...
Tópico(s): Diabetes and associated disorders
2021 - Elsevier BV | The Lancet Diabetes & Endocrinology
Produção Nacional
Revisado por pares
Fernanda Ferreira Evangelista, Willian Costa‐Ferreira, Francini Martini Mantelo, Lucimara Fátima Beletini, Amanda Hinobu de Souza, Priscilla de Laet Sant’Ana, Keller Karla de Lima, Carlos C. Crestani, Ana Lúcia Falavigna-Guilherme,
The aim of this study was to investigate the effect of rosuvastatin treatment on memory impairment, and anxiogenic-like effects in mice chronically infected with Toxoplasma gondii . For this, Balb/c mice were infected orally with chronic ME-49 strain of Toxoplasma gondii . Oral treatment with rosuvastatin (40mg/kg/day) started on the 51 st day post-infection and was performed daily for 21 days. After completion of treatment, anxiety-like effects and locomotion were investigated in the open field (OF) ...
Tópico(s): Herpesvirus Infections and Treatments
2021 - Public Library of Science | PLoS ONE
Produção Nacional
Revisado por pares
... como objetivo analisar o discurso do intelectual ultramontano Carlos de Laet, que foi publicado no periódico O Jornal. A ... rotuladas como superstição. Ao longo de cinco publicações, Carlos de Laet utilizou diferentes adjetivos para qualificar o espiritismo, o ...
Tópico(s): Linguistics and Education Research
2024 - UNIVERSIDADE FEDERAL DA GRANDE DOURADOS | Revista Eletrônica História em Reflexão
Sebene Mayorandan, Uta Meyer, Gülden Gökçay, Nuria García Segarra, Hélène Ogier de Baulny, Francjan van Spronsen, Jiri Zeman, Corinne De Laet, Ute Spiekerkoetter, Eva Thimm, Arianna Maiorana, Carlo Dionisi‐Vici, Dorothea Möeslinger, Michaela Brunner‐Krainz, Amelie S. Lotz‐Havla, José Ángel Cocho de Juan, María L. Couce, René Santer, Sabine Scholl‐Bürgi, Hanna Mandel, Yngve Thomas Bliksrud, Peter Freisinger, Luis Aldámiz‐Echevarría, Michel Hochuli, Matthias Gautschi, Jessica Endig, Jens Jordan, Patrick McKiernan, Stefanie Ernst, Susanne Morlot, Arndt Vogel, Johannes Sander, Anibh M. Das,
Hepatorenal tyrosinaemia (Tyr 1) is a rare inborn error of tyrosine metabolism. Without treatment, patients are at high risk of developing acute liver failure, renal dysfunction and in the long run hepatocellular carcinoma. The aim of our study was to collect cross-sectional data. Via questionnaires we collected retrospective data of 168 patients with Tyr 1 from 21 centres (Europe, Turkey and Israel) about diagnosis, treatment, monitoring and outcome. In a subsequent consensus workshop, we discussed ...
Tópico(s): Diet and metabolism studies
2014 - BioMed Central | Orphanet Journal of Rare Diseases
Produção Nacional
... minuciosa investigação do discurso propagado pelo intelectual ultramontano Carlos de Laet, cuja influência era amplamente difundida por meio do ... de cinco publicações específicas, é possível identificar que Carlos de Laet empregou uma gama variada de adjetivos distintos para ...
Tópico(s): Religious and Theological Studies
2023 - UNIVERSIDADE ESTADUAL DE LONDRINA | Antíteses
Produção Nacional
Revisado por pares
Tiago B. R. Castro, Maria Cecília Campos Canesso, Mariana Boroni, Daniela Ferreira Chame, Daniela de Laet Souza, Nayara Evelin de Toledo, Eric Birelli Tahara, Sérgio Danilo Junho Pena, Carlos Renato Machado, Egler Chiari, Andréa Mara Macedo, Glória Regina Franco,
The protozoan Trypanosoma cruzi (T. cruzi) is a well-adapted parasite to mammalian hosts and the pathogen of Chagas disease in humans. As both host and T. cruzi are highly genetically diverse, many variables come into play during infection, making disease outcomes difficult to predict. One important challenge in the field of Chagas disease research is determining the main factors leading to parasite establishment in the chronic stage in some organs, mainly the heart and/or digestive system. Our group ...
Tópico(s): Insect symbiosis and bacterial influences
2020 - Frontiers Media | Frontiers in Genetics
Tinne De Laet, Roland Klemke, Carlos Alario‐Hoyos, Isabel Hilliger, Alejandro Ortega‐Arranz,
Tópico(s): Environmental Education and Sustainability
2021 - Springer Science+Business Media | Lecture notes in computer science
Pedro Manuel Moreno-Marcos, Tinne De Laet, Pedro J. Muñoz‐Merino, Carolien Van Soom, Tom Broos, Katrien Verbert, Carlos Delgado Kloos,
To start medical or dentistry studies in Flanders, prospective students need to pass a central admission test. A blended program with four Small Private Online Courses (SPOCs) was designed to support those students. The logs from the platform provide an opportunity to delve into the learners’ interactions and to develop predictive models to forecast success in the test. Moreover, the use of different courses allows analyzing how models can generalize across courses. This article has the following ...
Tópico(s): Online and Blended Learning
2019 - Multidisciplinary Digital Publishing Institute | Sustainability
Produção Nacional
Revisado por pares
Gillian Rice, Paul R. Kasher, Gabriella Forte, Niamh Mannion, Sam M. Greenwood, Marcin Szynkiewicz, Jonathan E. Dickerson, Sanjeev S. Bhaskar, Massimiliano Zampini, Tracy A. Briggs, Emma M. Jenkinson, Carlos A. Bacino, Roberta Battini, Enrico Bertini, Paul Brogan, Louise Brueton, Marialuisa Carpanelli, Corinne De Laet, Pascale de Lonlay, Mireia del Toro, Isabelle Desguerre, Elisa Fazzi, Àngels García‐Cazorla, Arvid Heiberg, Masakazu Kawaguchi, Ram Kumar, Jean‐Pierre Lin, Charles Marques Lourenço, Alison Male, Wilson Marques, Cyril Mignot, Ivana Olivieri, Simona Orcesi, Prab Prabhakar, Magnhild Rasmussen, Robert A. Robinson, Flore Rozenberg, Johanna Schmidt, Katharina Steindl, Tiong Yang Tan, William G van der Merwe, Adeline Vanderver, Grace Vassallo, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, John H. Livingston, Pierre Lebon, Tamio Suzuki, Paul McLaughlin, Liam P. Keegan, Mary A. O’Connell, Simon C. Lovell, Yanick J. Crow,
Yanick Crow and colleagues show that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome, accompanied by upregulation of interferon-stimulated genes. ADAR1 encodes an enzyme that catalyzes the deamination of adeonosine to inosine in double-stranded RNA, and the findings suggest a possible role for RNA editing in limiting the accumulation of repeat-derived RNA species. Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of adenosine to inosine in ...
Tópico(s): RNA Research and Splicing
2012 - Nature Portfolio | Nature Genetics
Elena Marinova, Sandy P. Harrison, Fran Bragg, Simon Connor, Véronique De Laet, Suzanne A.G. Leroy, Petra J. Mudie, Juliana Atanassova, Elissaveta Bozilova, Hülya Caner, Carlos E. Córdova, Morteza Djamali, Mariana Filipova‐Marinova, Natalia Gerasimenko, Susanne Jahns, Katerina Kouli, Ulrich Kotthoff, Eliso Kvavadze, Maria Lazarova, Елена Новенко, Elias Ramezani, Astrid Röpke, Lyudmila Shumilovskikh, Ioan Tanțău, Spassimir Tonkov,
Abstract Aim To evaluate the biomization technique for reconstructing past vegetation in the Eastern Mediterranean–Black Sea–Caspian‐Corridor using an extensive modern pollen data set and comparing reconstructions to potential vegetation and observed land cover data. Location The region between 28–48°N and 22–62°E. Methods We apply the biomization technique to 1,387 modern pollen samples, representing 1,107 entities, to reconstruct the distribution of 13 broad vegetation categories (biomes). We assess ...
Tópico(s): Archaeology and ancient environmental studies
2017 - Wiley | Journal of Biogeography
Produção Nacional
Revisado por pares
Sílvia Regina Costa Dias, Mariana Boroni, Eliana Maria Maurício da Rocha, Thomaz Lüscher Dias, Daniela de Laet Souza, Fabrício Marcus Silva Oliveira, Mohammed Bitar, Andréa Mara Macedo, Carlos Renato Machado, Marcelo Vidigal Caliari, Glória Regina Franco,
Schistosomiasis is a neglected tropical disease, and after malaria, is the second most important tropical disease in public health. A vaccine that reduces parasitemia is desirable to achieve mass treatment with a low cost. Although potential antigens have been identified and tested in clinical trials, no effective vaccine against schistosomiasis is available. Y-box-binding proteins (YBPs) regulate gene expression and participate in a variety of cellular processes, including transcriptional and translational ...
Tópico(s): vaccines and immunoinformatics approaches
2014 - Frontiers Media | Frontiers in Genetics
Femke Molema, Florian Gleich, Peter Burgard, Ans T. van der Ploeg, Marshall Summar, Kimberly A. Chapman, Allan M. Lund, Dimitris Rizopoulos, Stefan Kölker, Monique Williams, Friederike Hörster, Anne Marie Jelsig, Pascale de Lonlay, Frits A. Wijburg, Annet M. Bosch, Peter Freisinger, Roland Posset, Persephone Augoustides‐Savvopoulou, Paula Avram, Călin Deleanu, Matthias R. Baumgartner, Johannes Häberle, Javier Blasco‐Alonso, Alberto Burlina, Laura Rubert, Ángeles García Cazorla, Elisenda Cortès i Saladelafont, Carlo Dionisi‐Vici, Diego Martinelli, D. Dobbelaere, Karine Mention, Stephanie Grünewald, Anupam Chakrapani, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ni‐Chung Lee, Daniela Karall, Sabine Scholl‐Bürgi, Corinne De Laet, Shirou Matsumoto, Linda De Meırleır, Manuel Schiff, Luis Peña Quintana, Milan Djordjević, Adrijan Sarajlija, Jolanta Sykut‐Cegielska, Anna Wiśniewska, Elisa Leão Teles, Susana P. Alves, Roshni Vara, Inmaculada Vives‐Piñera, David Gil, Andrew A. M. Morris, Jiri Zeman, Tomáš Honzík, B. Chabrol, F. Arnaudo, A. Caño, Nicholas J. Thompson, François Eyskens, Martin Lindner, Natalia Lüsebrink, Anil Jalan, Étienne Sokal, Vincent Legros, Marie‐Cécile Nassogne, Ivo Barić,
Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to growth failure. To obtain optimal growth and thereby efficacious protein incorporation, a diet containing the essential and functional amino acids for growth is necessary. Optimal growth will result in improved protein tolerance and possibly a decrease in the number of decompensations. It thus needs to be determined if amino acid deficiencies are ...
Tópico(s): Biochemical and Molecular Research
2019 - Elsevier BV | Molecular Genetics and Metabolism
Tópico(s): Crime, Illicit Activities, and Governance
1998 - | Revista Brasileira de Ciências Criminais
Produção Nacional
Revisado por pares
Daniela Ferreira Chame, Daniela de Laet Souza, Helaine Graziele Santos Vieira, Erich Birelli Tahara, Andréa Mara Macedo, Carlos Renato Machado, Glória Regina Franco,
Tópico(s): Cardiomyopathy and Myosin Studies
2020 - Springer Science+Business Media | Parasitology Research
Produção Nacional
Carlos Maximiano de Laet Raimundo de Souza, Gisele da Silva Rezende da Rosa, Karoline Cipriano dos Santos,
Este artigo, partindo da teoria psicogenética de Piaget e da teoria histórico-cultural de Vygotsky, investiga a relação entre a estrutura do sistema nervoso central e as funções psicológicas superiores, visando observar a existência de eventos críticos que justifiquem saltos qualitativos na capacidade cognitiva da criança, bem como a rigidez de etapas de desenvolvimento. Diante da inexistência dos referidos eventos críticos, concluimos que a interação social, através da apreensão da cultura historicamente ...
Tópico(s): Education Pedagogy and Practices
2023 - UNIVERSIDADE DO EXTREMO SUL CATARINENSE | Criar Educação
Miriã Alves de Laet Silva, Sílvio Ribeiro da Silva,
Resumo Este artigo apresenta resultados a respeito de um estudo sobre leitura. No contexto educacional, ela perpassa todas as disciplinas do Curriculo. Tal fato e de fundamental importância, ja que as atividades de leitura e interpretacao feitas pelos alunos devem favorecer o desenvolvimento dos letramentos (institucionalizados ou nao). Na escola, sua pratica ocorre, na maioria das vezes, a partir do livro didatico (LD) e este, ultimamente, tem despertado o interesse dos pesquisadores que passaram ...
Tópico(s): Linguistics and Language Studies
2016 - UNIVERSIDADE FEDERAL DE SÃO CARLOS | Revista Eletrônica de Educação
Produção Nacional
Carlos Eduardo Borges Oliveira, Caroline Fávaro Oliveira, Felipe Fiochi Pena, Helen Sandra de Sousa Laet, Isabella Esper Tamburus, Pedro de Souza Lopes Silva, Júlio César de Souza Inácio Gonçalves, Deusmaque Carneiro Ferreira,
Os modelos matemáticos têm considerável aplicabilidade na esfera ambiental e, dentre os usos possíveis, pode-se destacar a aferição de parâmetros de qualidade da água com a simulação de diversos cenários, o que os tornam uma importante ferramenta para a gestão dos recursos hídricos. O objetivo do presente estudo foi avaliar a qualidade da água do Córrego Lanoso, no município de Uberaba (MG), bem como inferir a carga máxima de efluente admissível no córrego por meio do modelo QUAL2K. As coletas foram ...
Tópico(s): Soil erosion and sediment transport
2019 - Jair Sindra Virtuoso Junior | Revista Brasileira de Ciência Tecnologia e Inovação
Produção Nacional
Revisado por pares
Daniela Ferreira Chame, DANIELA DE LAET-SOUZA, Helaine Graziele Santos Vieira, E. B. Tahara, Andréa Mara Macedo, Carlos Renato Machado, Glória Regina Franco,
Benznidazole (BZ) is the trypanocidal compound of choice for Chagas disease, a neglected tropical disease in the Americas. However, this drug often fails to cure the infection. The regulation of gene expression in Trypanosoma cruzi, the causative agent of Chagas disease, is based on post-transcriptional mechanisms. When environmental changes cause translational arrest, RNA-binding proteins, and their target mRNAs assemble into cytoplasmic bodies, known as RNA granules, which act as RNA sorting centers. ...
Tópico(s): Research on Leishmaniasis Studies
2024 - Brazilian Academy of Sciences | Anais da Academia Brasileira de Ciências
Produção Nacional
Revisado por pares
Silvana Maria Aparecida Viana Santos, Rodi Narciso, Agnólia Pereira de Almeida, Alvimara Lima Batalha, João Carlos Machado, Lucas Estevão Fernandes Laet, Domingos Sávio Dos Santos, Juçara Aguiar Guimarães Silva,
A educação infantil desempenha um papel fundamental na formação das crianças, não apenas em termos de habilidades acadêmicas, mas também na construção de suas identidades e valores. O ensino religioso, quando presente, pode influenciar profundamente as perspectivas religiosas e éticas das crianças. Portanto, entender as interfaces desse ensino é crucial para educadores, pais e a sociedade como um todo. Através de pesquisa qualitativa de natureza bibliográfica, o objetivo principal deste artigo é ...
Tópico(s): Migration, Racism, and Human Rights
2023 - Faculdade Novo Milênio | Revista Foco
Produção Nacional
Revisado por pares
I.C. Mendes, Willian dos Reis Bertoldo, Adalberto Sales Miranda-Junior, Antônio Vinícius de Assis, Bruno Marçal Repolês, Wesley Roger Rodrigues Ferreira, Daniela Ferreira Chame, Daniela de Laet Souza, Raphael Pavani, Andréa Mara Macedo, Glória Regina Franco, Esteban Serra, Virginia Perdomo, Carlos Frederico Martins Menck, Giovana da Silva Leandro, Stênio Perdigão Fragoso, Maria Carolina Elias, Carlos Renato Machado,
Trypanosoma cruzi is the etiological agent of Chagas disease and a peculiar eukaryote with unique biological characteristics. DNA damage can block RNA polymerase, activating transcription-coupled nucleotide excision repair (TC-NER), a DNA repair pathway specialized in lesions that compromise transcription. If transcriptional stress is unresolved, arrested RNA polymerase can activate programmed cell death. Nonetheless, how this parasite modulates these processes is unknown. Here, we demonstrate that ...
Tópico(s): Biochemical and Molecular Research
2024 - Elsevier BV | DNA repair
Produção Nacional
Revisado por pares
Carlos André Souza Dos Santos, Danielle Nunes Cavalcante Beviláqua, Gioconda Soares de Araújo Silva, Ianan Eugênia De Carvalho, Karine Andrade Mourão, Lucas Estevão Fernandes Laet, Luiz Paulo Brito Rocha, Marcos Vinícius Malheiros da Silva,
O presente artigo propõe uma análise da evolução dos ambientes de aprendizagem, partindo de uma perspectiva tradicional centrada no domínio docente para a atual abordagem de democratização, onde diversos cenários se configuram como ambientes de aprendizagem ricos e diversificados. Em particular, destaca-se o papel significativo dos ambientes de aprendizagem online, comumente referidos como EAD, cuja utilização experimentou um aumento notável, especialmente após a pandemia de coronavírus. O objetivo ...
Tópico(s): Healthcare during COVID-19 Pandemic
2024 - Faculdade Novo Milênio | Revista Foco
Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie, P. Tomlin, Federica Vagnarelli, Enza Maria Valente, Rudy N.A. Van Coster, Nathalie Van der Aa, Adeline Vanderver, J.S.H. Vles, Thomas Voït, Evangeline Wassmer, Bernhard Weschke, Margo L. Whiteford, Michèl A.A.P. Willemsen, Andreas Zankl, Sameer M. Zuberi, Simona Orcesi, Elisa Fazzi, Pierre Lebon, Yanick J. Crow,
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, ...
Tópico(s): RNA regulation and disease
2007 - Elsevier BV | The American Journal of Human Genetics
... Hernández's work influenced that of Johannes de Laet, Juan Eusebio Nieremberg, Georg Marcgraf, Abraham Munting, Robert ...
Tópico(s): Latin American history and culture
2006 - Routledge | Colonial Latin American Review
Produção Nacional
Revisado por pares
... described seizures as «nervous phenomena», «absenses», «my illness». Laet observed a seizure and described it as: «... when ...
Tópico(s): Glycogen Storage Diseases and Myoclonus
1992 - Thieme Medical Publishers (Germany) | Arquivos de Neuro-Psiquiatria