129 results on '"Catarina Pereira"'
Search Results
2. Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
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Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, and Christian Beetz
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Rare disease ,Lysosomal storage disorder ,Batten disease ,Neuronal ceroid lipofuscinoses ,CLN6 ,New variant ,Medicine - Abstract
Abstract Background Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usually appear between 18 months and 8 years, but examples of later-onset have also been reported. Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis. Results We present one of the largest cohorts to date of genetically diagnosed CLN6 patients screened at a single center. In total 97 subjects, originating from 20 countries were screened between 2010 and 2020. They comprised 86 late-infantile, eight juvenile, and three adult-onset cases (two patients with Kufs disease type A, and one with teenage progressive myoclonic epilepsy). The male to female ratio was 1.06: 1.00. The age at referral was between six months and 33 years. The time from disease onset to referral ranged from less than 1 month to 8.3 years. The clinical phenotype consisted of a combination of symptoms, as reported before. We characterized a total of 45 distinct variants defining 45 distinct genotypes. Twenty-four were novel variants, some with distinct geographic associations. Remarkably, c.257A > G (p.H86R) was present in five out of 23 unrelated Egyptian individuals but in no patients from other countries. The most common genotype was homozygosity for the c.794_796del in-frame deletion. It was present in about one-third of CLN6 patients (28 unrelated cases, and 2 familial cases), all with late-infantile onset. Variants with a high likelihood of causing loss of CLN6 function were found in 21% of cases and made up 33% of all distinct variants. Forty-four percent of variants were classified as pathogenic or likely pathogenic. Conclusions Our study significantly expands the number of published clinical cases and the mutational spectrum of disease-associated CLN6 variants, especially for the Middle Eastern and North African regions. We confirm previous observations regarding the most prevalent symptoms and recommend including CLN6 in the genetic diagnosis of patients presenting with early-onset abnormalities of the nervous system, musculoskeletal system, and eye.
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- 2022
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3. Construção e validação do instrumento: checklist e matriz de avaliação do risco (CMAR) em desportos de montanha
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Carlos Mata, Catarina Pereira, and Luís Carvalhinho
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Validação de instrumento ,Avaliação do risco ,Checklist ,Matriz de risco ,Fatores de risco ,Desportos de montanha ,Medicine ,Sports medicine ,RC1200-1245 - Abstract
O objetivo deste estudo foi desenvolver e validar o instrumento checklist e matriz de avaliação do risco (CMAR) em desportos de montanha, nomeadamente, pedestrianismo, canyoning e escalada. O desenvolvimento do CMAR realizou-se mediante análise documental, revisão de literatura e consulta de especialistas. A validação de conteúdo do CMAR efetuou-se recorrendo à técnica Delphi, envolvendo 10 especialistas (idade: 35-58 anos, 42,30±7,70 anos; experiência na área: 17,00 ± 6,8 anos), e a validação de constructo recorrendo à análise fatorial exploratória, envolvendo 548 técnicos e praticantes de pedestrianismo (n:182), canyoning (n:183) e escalada (n:183). A 1|ª versão do CMAR revelou-se pertinente, clara e objetiva (ICCespecilaistas: 0,85-0,90) e incluiu 51 itens (fatores de risco) agrupados em 3 dimensões. A versão final do CMAR incluiu 36 itens estruturados em 4 dimensões (humana, materiais e equipamentos, ambiental, e segurança e emergência), a serem avaliados numa matriz de risco de 5x5 pontos (probabilidade x consequência), que resulta num nível de risco estratificado correspondente a uma recomendação, ação e tratamento (KMOmodelo: 0,816; variância justificada modelo: 56,4%). O CMAR evidenciou valores bons de confiabilidade e bons a aceitáveis de validação de construto, viabilizando a sua utilização na análise e gestão de risco nos desportos de montanha pedestrianismo, canyoning e escalada.
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- 2023
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4. Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report
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Isadora Andrade, River Ribeiro, Zumira A. Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Daniel Grinberg, Lluïsa Vilageliu, and Charles M. Lourenco
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Mucopolysaccharidosis ,MPS VI ,Maroteaux–Lamy syndrome ,Glycosaminoglycans ,Arylsulfatase B ,Enzyme replacement therapy ,Medicine - Abstract
Abstract Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan sulfate) accumulates, leading to a multisystemic disease. Mucopolysaccharidosis VI induces reduced growth, coarse face, audiovisual deficits, osteoarticular deformities, and cardiorespiratory issues, hampering the quality of life of the patient. Enzyme replacement therapy with galsulfase (Naglazyme, BioMarin Pharmaceuticals Inc., USA) is the specific treatment for this condition. Although studies have shown that enzyme replacement therapy slows the progression of the disease, the effects of long-term enzyme replacement therapy remain poorly understood. Case presentation A 29-year-old, Caucasian, male patient diagnosed with mucopolysaccharidosis VI was treated with enzyme replacement therapy for over 15 years. Enzyme replacement therapy was initiated when patient was 13 years old. The patient evolved multiplex dysostosis, carpal tunnel syndrome, thickened mitral valve, and hearing and visual loss. Conclusions Although enzyme replacement therapy did not prevent the main signs of mucopolysaccharidosis VI, it slowed their progression. Additionally, enzyme replacement therapy was associated with a longer survival compared with the untreated affected sibling. Taken together, the results indicate that enzyme replacement therapy positively modified the course of the disease.
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- 2022
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5. P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita
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Kornelia Tripolszki, Javier Martini, Kapil Kampe, Vasiliki Karageorgou, Mohamed Almuhaizea, Catarina Pereira, Stephanie Weissgraeber, Omid Paknia, Jorge Pinto-Basto, and Peter Bauer
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Genetics ,QH426-470 ,Medicine - Published
- 2023
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6. Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing
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Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, and Aida M. Bertoli-Avella
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Gene classification ,Gene curation ,Gene-disease association ,Gene-disease relationship ,Gene-validity ,Genetics ,QH426-470 ,Medicine - Abstract
Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical Genome Resource (ClinGen) Clinical Validity Framework for evaluation of GDR was applied. Most of the assessed genes were without a phenotype entry in the Online Mendelian Inheritance in Man (OMIM) database. Our Biodatabank with genetic data from over 670,000 previously tested individuals, in addition to data available in literature and public databases, were used for gene curation. Results: We confirmed 61 GDR (Definitive: 4 genes, Strong: 22 genes, Moderate: 35 genes). For 84 of 109 gene-disease pairs, a higher score was reached when using data from our Biodatabank in addition to externally obtainable data. This increased the final level of classification in 21 of the genes. Over 400 patients received a genetic report with clinically relevant variants in these 61 genes. Conclusion: Our results demonstrate the importance of careful assessment of gene clinical validity data, along with the use of genetic data repositories. Implementation of the ClinGen Clinical Validity Framework for assessment of GDR is relatively straightforward. We encourage diagnostic laboratories to implement such a system and contribute to closing the knowledge gap in genetic research and diagnostics.
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- 2023
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7. CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
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Catarina Pereira, Alexander Mazein, Carlos M. Farinha, Michael A. Gray, Karl Kunzelmann, Marek Ostaszewski, Irina Balaur, Margarida D. Amaral, and Andre O. Falcao
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Medicine ,Science - Abstract
Abstract Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assist in the collection and visualization of CF data to extract additional biological significance and find novel therapeutic targets. Here, we present the CyFi-MAP—a disease map repository of CFTR molecular mechanisms and pathways involved in CF. Specifically, we represented the wild-type (wt-CFTR) and the F508del associated processes (F508del-CFTR) in separate submaps, with pathways related to protein biosynthesis, endoplasmic reticulum retention, export, activation/inactivation of channel function, and recycling/degradation after endocytosis. CyFi-MAP is an open-access resource with specific, curated and continuously updated information on CFTR-related pathways available online at https://cysticfibrosismap.github.io/ . This tool was developed as a reference CF pathway data repository to be continuously updated and used worldwide in CF research.
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- 2021
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8. Análise da variabilidade de medição interoperador de parâmetros pré e pós-operatórios em olhos com implante de lente de colâmero implantável (ICL) através da tomografia de coerência ótica do segmento anterior
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Bruno Pereira, Catarina Pereira, Catarina Lopes, Maria Narciso, Raquel Moura, Sara Silva, and Andreia Rocha
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Repetibilidade ,Tomografia de coerência ótica ,Segmento anterior ,Vault ,ICL ,Medicine - Abstract
Introdução – As lentes ICL (Implantable Collamer Lens) são uma alternativa aos procedimentos refrativos mais convencionais. O seu implante pode desencadear complicações, que podem ser minimizadas se forem efetuadas medições pré e pós-operatórias fiáveis. O objetivo deste estudo é analisar a variabilidade interoperador das medições pré e pós-operatórias, utilizando imagens obtidas através de tomografia de coerência ótica do segmento anterior. Métodos – Utilizando o equipamento SD-OCT Spectralis®, dois ortoptistas mediram o diâmetro inter esporão escleral, o diâmetro pupilar e o vault, em 60 imagens de 30 olhos implantados com lentes ICL. Para a análise estatística foram utilizadas estatísticas descritivas, o teste t para o valor médio para amostras independentes, tendo-se ainda calculado o coeficiente de correlação intraclasse. Foram ainda construídos gráficos de dispersão de Bland-Altman Plot. Resultados – Avaliando o coeficiente de correlação intraclasse, todas as medições em estudo apresentaram uma concordância excelente entre os dois operadores. No teste t observaram-se diferenças estatisticamente significativas entre os dois operadores, apenas para as medições do vault, com possível impacto clínico. Quanto às medidas de diâmetro inter esporão escleral, apesar da ausência de diferenças estatisticamente significativas, existiram algumas diferenças com significância clínica que devem ser corrigidas no futuro. Conclusões – Diferenças de medição interoperador devem ser avaliadas estatisticamente, mas também clinicamente, pois apesar da ausência de diferenças estatisticamente significativas o seu impacto clínico deve ser avaliado, ponderado e, quando necessário, corrigido.
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- 2022
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9. Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology
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Volha Skrahina, Ulrike Grittner, Christian Beetz, Thomas Skripuletz, Martin Juenemann, Heidrun H. Krämer, Katrin Hahn, Andreas Rieth, Volker Schaechinger, Monica Patten, Christian Tanislav, Stephan Achenbach, Birgit Assmus, Fabian Knebel, Stefan Gingele, Aliaksandr Skrahin, Jörg Hartkamp, Toni M. Förster, Sabine Roesner, Catarina Pereira, and Arndt Rolfs
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Hereditary transthyretin-related amyloidosis ,polyneuropathy ,cardiomyopathy ,genetic testing ,Medicine - Abstract
AbstractBackground Hereditary Transthyretin-Related Amyloidosis, a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the TTR gene, is characterized by the deposition of insoluble misfolded protein fibrils. The diagnosis, especially in non-endemic areas, is typically delayed by 4–5 years; a misdiagnosis due to clinical heterogeneity is common. The study objective was to define the prevalence of Hereditary Transthyretin-Related Amyloidosis in patients with polyneuropathy and/or cardiomyopathy of no obvious aetiology.Method A multicenter observational “Epidemiological analysis for the hereditary Transthyretin-Related AMyloidosis”—TRAM study was performed in Germany, Austria, and Switzerland.Results A total of 5141 participants were recruited by 50 neurologic and 27 cardiologic specialized centres. Genetic analysis demonstrated a 1.1% Hereditary Transthyretin-Related Amyloidosis positivity rate among patients with polyneuropathy and/or cardiomyopathy of not obvious aetiology. Twenty-one various TTR variants (TTR-positive) were identified. Body Mass Index was lower in the TTR-positive patients as an indicator for the involvement of the autonomic nervous system; the age of onset of clinical manifestations was higher in TTR-positive patients. There were no other genotype-phenotype correlations or the prevalence of specific clinical manifestations in TTR-positive patients.Conclusions Our data support the fact that Hereditary Transthyretin-Related Amyloidosis is underdiagnosed in polyneuropathy and cardiomyopathy patients. Routine implementation of genetic testing is recommended in patients with unexplained polyneuropathy and/or cardiomyopathy to accelerate the earlier diagnosis and the time-sensitive treatment initiation.KEY MESSAGESMore than 5.000 participants with CM and/or PNP of no obvious aetiology were recruited in the observational “Epidemiological analysis for the hereditary Transthyretin-Related AMyloidosis” TRAM study and screened for pathogenic TTR variants.The study demonstrated >1% of patients with CM and/or PNP of unclear aetiology are positive for a pathogenic TTR variant.Routine genetic testing is recommended in patients with unexplained CM and/or PNP to accelerate the initial diagnosis and timely treatment initiation.
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- 2021
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10. Synthetic cannabinoids affect the expression of autophagic mediators ATG5, BECLIN-1, RAB7A and LC3 in brain-derived NG108-15 cells
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Catarina Pereira Teixeira, Maria Rita Garcia, Rita Roque Bravo, Helena Carmo, Félix Carvalho, João Pedro Silva, and Diana Dias da Silva
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autophagy ,cannabinoids ,new osychoactive substances ,drugs of abuse ,Medicine - Published
- 2022
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11. Stepping-forward affordance perception test cut-offs: Red-flags to identify community-dwelling older adults at high risk of falling and of recurrent falling.
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Catarina Pereira, Jorge Bravo, Guida Veiga, José Marmeleira, Felismina Mendes, and Gabriela Almeida
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Medicine ,Science - Abstract
The stepping-forward affordance perception test (SF-APT) fills an important gap within the screening of falls risk factors by considering the perception of affordances. The test showed to be a valid instrument for community-dwelling older adults falls risk assessment. The present study aimed to distinguish and test the key outcomes of the SF-APT usable for falls risk assessment in community-dwelling older adults to determine the respective cut-offs. This cross-sectional study enrolled 347 participants (73.1 ± 6.2 years; non-fallers: 57.9%; fallers: 42.1%; recurrent-fallers: 17.9%). Falls occurrence and SF-APT outcomes were assessed. Analyses were performed using multivariate binary logistic regression analysis and receiver operating characteristic (ROC). The area under the ROC curve was computed (AUC) for each built model explaining falling or recurrent falling. Results distinguished the Estimated stepping-forward, and Absolute-error in interaction with Error-tendency as the SF-APT key outcomes for falls risk assessment [AUCfalling: 0.665 (CI 95%: 0.608-0.723); AUCfalling recurrently: 0.728 (CI 95%: 0.655-0.797)]. Computed cut-offs' analysis showed that (i) a boundary stepping-forward estimation >58 cm plus an underestimation bias >5 cm (>42nd percentile) avoid older adults to be recurrent-fallers, and (ii) a boundary stepping-forward estimation >62 cm plus an underestimation bias >6 cm (>54th percentile) avoid older adults to be fallers. In conclusion, results suggest that SF-APT is a valuable tool for falls risk assessment in community-dwelling older adults. Interventions targeting the prevention of falls should consider the above key outcomes and the respective cut-offs as alert red-flags.
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- 2020
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12. Abstracts of the International Congress of Research Center in Sports Sciences, Health Sciences & Human Development (2016)
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Vitor Reis, António Silva, Nuno Batalha, Francisco Saavedra, Catarina Abrantes, Aldo Costa, Mário Marques, Daniel Marinho, Bruno Travassos, Ana Pereira, Carolina Vila-Chã, Mário Costa, Pedro Esteves, Hugo Louro, Luís Cid, Ana Teresa Conceição, Tiago Barbosa, Vitor Lopes, Susana Póvoas, Catarina Pereira, José Marmeleira, Borja Sanudo Corrales, Guilhermo Olcina, Marcus Maynar, Jesus del Pozo, Rafael Timon, Armando Raimundo, Hugo Folgado, José Parraça, Jorge Bravo, and Pablo Carús
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Medicine ,Sports medicine ,RC1200-1245 - Abstract
The papers published in this book of abstracts / proceedings were submitted to the Scientific Commission of the International Congress of Research Center in Sports Sciences, Health Sciences & Human Development, held on 11 and 12 November 2016, at the University of Évora, Évora, Portugal, under the topic of Exercise and Health, Sports and Human Development. The content of the abstracts is solely and exclusively of its authors responsibility. The editors and the Scientific Committee of the International Congress of Research Center in Sports Sciences, Health Sciences & Human Development do not assume any responsibility for the opinions and statements expressed by the authors. Partial reproduction of the texts and their use without commercial purposes is allowed, provided the source / reference is duly mentioned.
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- 2017
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13. Cardiac Angiosarcoma: From Cardiac Tamponade to Ischaemic Stroke – A Diagnostic Challenge
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Vanessa Meireles Chaves, Catarina Pereira, Marta Andrade, Pedro von Hafe, and Jorge Almeida
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Cardiac angiosarcoma ,pericardial effusion ,cardiac tamponade ,pericardial biopsy ,ischaemic stroke ,Medicine - Abstract
Cardiac angiosarcoma (CA) is the most common primary malignant heart tumour. Its atypical symptoms and rapidly progressive nature contribute to delayed diagnosis and poor outcome. We report the case of a 52-year-old woman admitted with a large pericardial effusion. An extensive study of the aetiology of the pericardial effusion was inconclusive. Two months later the patient returned with ischaemic stroke. An echocardiogram revealed a probable right atrium contained rupture. The patient was submitted to surgical correction but died 9 days later. Histology revealed an angiosarcoma. This case exemplifies the atypical presentation of CA and highlights the importance of a multimodal diagnostic work-up in patients with idiopathic pericardial effusion.
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- 2019
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14. Reliability and construct validity of the stepping-forward affordance perception test for fall risk assessment in community-dwelling older adults.
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Gabriela Almeida, Jorge Bravo, Hugo Folgado, Hugo Rosado, Felismina Mendes, and Catarina Pereira
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Medicine ,Science - Abstract
Thus far, few studies have examined the estimation and actual performance of locomotor ability in older adults. To our knowledge, there are no studies examining the relationship between stepping-forward estimation versus ability and fall occurrence. The aim of this study was to develop and assess the reliability and validity of a new test for fall risk assessment in community-dwelling older adults. In total, 347 participants (73.1 ± 6.2 years; 266 women) were assessed for their perception of maximum distance for the stepping-forward and action boundary. The test was developed following the existing literature and expert opinions. The task showed strong internal consistency. Intraclass correlation ranged from 0.99 to 1 for intrarater agreement and from 0.83 to 0.97 for interrater agreement. Multivariate binary regression analysis models revealed an area under the curve (AUC) of 0.665 (95% CI: 0.608-0.723) for fallers and 0.728 (95% CI: 0.655-0.797) for recurrent fallers. The stepping-forward affordance perception test (SF-APT) was demonstrated to be accurate, reliable and valid for fall risk assessment. The results showed that a large estimated stepping-forward associated with an underestimated absolute error works as a protective mechanism for fallers and recurrent fallers in community-dwelling older adults. SF-APT is safe, quick, easy to administer, well accepted and reproducible for application in community or clinical settings by either clinical or nonclinical care professionals.
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- 2019
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15. Actinotignum Schaalii bacteremia: from microbiota to the infection
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SARA PINTO, MARIA FIGUEIREDO, FATIMA LEAL-SEABRA, and CATARINA Pereira
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Actinotignum Schaalii ,bacteremia ,urinary tract infection. ,Medicine ,Internal medicine ,RC31-1245 - Abstract
Actinotignum schaalii is a gram-positive, facultative anaerobic bacillus, an opportunist agent that is underestimated or mistaken as a contaminant. In this article, we present a case of sepsis with multiorgan dysfunction due to acute pyelonephritis complicated by A. schaalii bacteraemia in an elderly patient with diabetes mellitus, chronic obstructive renal disease, benign prostatic hyperplasia, renal lithiasis and chronic urinary device. Through specific laboratory techniques such as Matrix-Assisted Laser Desorption/Ionisation Time-Of-Flight Mass Spectrometry, it was possible to identify the presence of A. schaalii in blood cultures. However, uroculture was negative. After 20 days of β-lactam, it was possible to successfully heal the infection. The difficulty in identifying this rare agent has definitely constrained our diagnostic and therapeutic approach.
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- 2019
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16. Acrocianosis iatrogénica
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Susana Travassos Cunha and Catarina Pereira
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Acrocianosis ,Iatrogenic ,Obstrucción de la vena cava ,Catéter venoso central ,Síndrome de vena cava superior ,Medicine ,Internal medicine ,RC31-1245 - Abstract
Sixty-year-old woman, with a history of gastric neoplasia in remission 5 years ago, and since then have a totally iimplantable central venous catheter (TICVC) in the right subclavian vein. No other relevant history and no known allergies.
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- 2019
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17. Análise económica de rituximab em associação com ciclofosfamida, vincristina e prednisolona no tratamento de doentes com linfoma folicular avançado em Portugal.
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Paula Braga, Susana Carvalho, Marília Gomes, Lurdes Guerra, Paulo Lúcio, Herlander Marques, Filipa Negreiro, Catarina Pereira, Catarina Silva, and Adriana Teixeira
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Medicine ,Medicine (General) ,R5-920 - Abstract
Evaluate costs and benefits of rituximab in combination with cyclophosphamide/vincristine/prednisolone chemotherapy regimen (R-CVP), in previously untreated patients with indolent non-Hodgkin lymphoma (NHL), compared to CVP alone from a Portuguese National Health System (NHS) perspective.Cost-effectiveness (Life Years Gained--LYG) and cost-utility analysis (Quality Adjusted Life Years--QALYs) were performed for a time horizon of 10 years, according to a Markov economic model with three health states (progression free survival, progression and death) and monthly cycles for a population of previously untreated patients with indolent NHL. Data from a phase III clinical trial was used and expanded to include unpublished 53-month median follow-up data. Survival after first-line therapy was estimated from the Scotland and Newcastle Lymphoma Group registry data and utilities were derived from a study in the UK performed in patients with follicular lymphoma. Resource consumption was estimated by a Portuguese expert panel (Delbecq Panel). Costs were calculated from the Portuguese NHS perspective through official data with prices updated to 2008. Only direct medical costs were considered. Costs and clinical outcomes were discounted at 5% per annum. Deterministic and probabilistic sensitivity analysis were performed around assumptions on the time horizon, costs, utilities and excess mortality rate due to progression applied in the base-case analysis.The 10-year base-case analysis showed a lower total cost per patient with CVP alone (€ 85,838) in comparison with R-CVP (€ 87,774). Life expectancy and Quality adjusted life expectancy per patient were higher with R-CVP (6.361 and 4.166, respectively) than with CVP alone (5.557 and 3.438, respectively), representing increases of 0.804 in LYG and 0.728 (8.7 months) in QALYs gained. The incremental cost per LYG was € 2,407 and the incremental cost per QALY gained was € 2,661. The probabilistic sensitivity analysis confirmed the robustness of the base-case analysis results.This study demonstrates that the combination R-CVP in previously untreated indolent NHL patients improves life expectancy and is a cost-effective alternative to CVP in Portugal.
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- 2010
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18. Avaliação económica da utilização de capecitabina como tratamento de primeira linha em doentes com carcinoma gástrico avançado em Portugal.
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Ana Macedo, Catarina Pereira, Joana Gonçalves, and Conceição Sousa
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Medicine ,Medicine (General) ,R5-920 - Abstract
Gastric cancer is a highly prevalent disease in Portugal with impact on morbidity and mortality. The approach to a stomach cancer depends on the disease status and prognosis at the time of diagnosis. Surgical resection is the only potentially curative treatment. Up to now, palliative chemotherapy has been the only advantageous therapy option for patients with unresectable advanced gastric cancer or after recurrence, with a median survival of six to nine months. Among the drugs with a known antitumor activity, 5-fluorouracil (5-FU) and cisplatin have been widely used in advanced gastric cancer, either in monotherapy, or in combination. However, 5-FU is administered by intravenous infusion, which requires the insertion of a central venous catheter or the patient's hospitalization and is therefore inconvenient and uncomfortable.Evaluation of the incremental cost in Portugal of using capecitabine as first line treatment in patients with advanced gastric carcinoma as an alternative to 5-FU, both used in association with cisplatin.The study was carried out using the Portuguese National Health Service (NHS) perspective, through an analysis of cost minimization, considering data from a phase III clinical study (ML17032) that demonstrates the non-inferiority of capecitabine versus 5-FU, both in association with cisplatin. A Markov model was developed to evaluate the treatment costs, using a cohort of patients with advanced gastric carcinoma and a timeframe of five cycles. This analysis considered only direct costs.The incremental cost analysis demonstrated savings of 5,868.60 euro per patient with capecitabine therapy (base scenario). The results obtained when considering alternative scenarios (sensitivity analysis), particularly that related to the 5-FU Administration method, reinforce the base scenario savings result.The analysis conducted demonstrated that the use of capecitabine+cisplatin (CAP-cis) allows a cost reduction when compared to the alternative 5-FU+cisplatin (5-FU-cis). Capecitabine clinical efficacy is not inferior to 5-FU and it has a more convenient and comfortable administration method. It also eliminates the risk of complications associated with intravenous perfusion, consequently reducing the need for hospitalisation. The replacement of 5-FU with capecitabine is shown to be economically advantageous.
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- 2009
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19. Development and validation of a continuous fall risk score in community-dwelling older people: an ecological approach
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Jorge Miguel Bravo, Catarina Pereira, Hugo Rosado, Hugo Folgado, Nuno Batalha, Pablo Tomas-Carus, and Cristina Carrasco
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Male ,medicine.medical_specialty ,Dynamic fall risk assessment ,Risk Assessment ,Risk Factors ,Epidemiology ,Cutoff ,Medicine ,Humans ,Fall prevention ,Aged ,Aged, 80 and over ,Receiver operating characteristic ,business.industry ,Public health ,Research ,Public Health, Environmental and Occupational Health ,Predictive accuracy ,Fall risk ,Confidence interval ,ROC Curve ,Older adults ,Female ,Independent Living ,Biostatistics ,Public aspects of medicine ,RA1-1270 ,business ,Demography ,Intrinsic-exposure risk - Abstract
Background Fall risk assessment in older people is of major importance for providing adequate preventive measures. Current predictive models are mainly focused on intrinsic risk factors and do not adjust for contextual exposure. The validity and utility of continuous risk scores have already been demonstrated in clinical practice in several diseases. In this study, we aimed to develop and validate an intrinsic-exposure continuous fall risk score (cFRs) for community-dwelling older people through standardized residuals. Methods Self-reported falls in the last year were recorded from 504 older persons (391 women: age 73.1 ± 6.5 years; 113 men: age 74.0 ± 6.1 years). Participants were categorized as occasional fallers (falls ≤1) or recurrent fallers (≥ 2 falls). The cFRs was derived for each participant by summing the standardized residuals (Z-scores) of the intrinsic fall risk factors and exposure factors. Receiver operating characteristic (ROC) analysis was used to determine the accuracy of the cFRs for identifying recurrent fallers. Results The cFRs varied according to the number of reported falls; it was lowest in the group with no falls (− 1.66 ± 2.59), higher in the group with one fall (0.05 ± 3.13, p p Conclusions The cFRs was shown to be a valid dynamic multifactorial fall risk assessment tool for epidemiological analyses and clinical practice. Moreover, the potential for the cFRs to become a widely used approach regarding fall prevention in community-dwelling older people was demonstrated, since it involves a holistic intrinsic-exposure approach to the phenomena. Further investigation is required to validate the cFRs with other samples since it is a sample-specific tool.
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- 2021
20. Effects of two 24-week multimodal exercise programs on reaction time, mobility, and dual-task performance in community-dwelling older adults at risk of falling: a randomized controlled trial
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Jorge Miguel Bravo, Armando Raimundo, Catarina Pereira, Joana Carvalho, Hugo Rosado, and José Marmeleira
- Subjects
medicine.medical_specialty ,Aging ,Activities of daily living ,Psychological intervention ,Falls in older adults ,Psychomotor intervention ,Whole-body vibration ,law.invention ,Randomized controlled trial ,law ,Task Performance and Analysis ,medicine ,Reaction Time ,Humans ,Aged ,Psychomotor learning ,business.industry ,Research ,Public Health, Environmental and Occupational Health ,Discontinuation ,Exercise Therapy ,Physical therapy ,Physical function ,Accidental Falls ,Falls ,Independent Living ,Cognitive function ,Biostatistics ,Public aspects of medicine ,RA1-1270 ,business ,Fall prevention - Abstract
Background Falls in older adults are considered a major public health problem. Declines in cognitive and physical functions, as measured by parameters including reaction time, mobility, and dual-task performance, have been reported to be important risk factors for falls. The aim of this study was to investigate the effects of two multimodal programs on reaction time, mobility, and dual-task performance in community-dwelling older adults at risk of falling. Methods In this randomized controlled trial, fifty-one participants (75.4 ± 5.6 years) were allocated into two experimental groups (EGs) (with sessions 3 times per week for 24 weeks), and a control group: EG1 was enrolled in a psychomotor intervention program, EG2 was enrolled in a combined exercise program (psychomotor intervention program + whole-body vibration program), and the control group maintained their usual daily activities. The participants were assessed at baseline, after the intervention, and after a 12-week no-intervention follow-up period. Results The comparisons revealed significant improvements in mobility and dual-task performance after the intervention in EG1, while there were improvements in reaction time, mobility, and dual-task performance in EG2 (p ≤ 0.05). The size of the interventions’ clinical effect was medium in EG1 and ranged from medium to large in EG2. The comparisons also showed a reduction in the fall rate in both EGs (EG1: -44.2%; EG2: − 63.0%, p ≤ 0.05) from baseline to post-intervention. The interventions’ effects on reaction time, mobility, and dual-task performance were no longer evident after the 12-week no-intervention follow-up period. Conclusions The results suggest that multimodal psychomotor programs were well tolerated by community-dwelling older adults and were effective for fall prevention, as well as for the prevention of cognitive and physical functional decline, particularly if the programs are combined with whole-body vibration exercise. The discontinuation of these programs could lead to the fast reversal of the positive outcomes achieved. Trial registration ClinicalTrials.gov Identifier: NCT03446352. Date of registration: February 07, 2018.
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- 2021
21. GC-MS-FID characterization and antibacterial activity of the essential oil from Achyrocline satureioides (Lam) DC
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Jacqueline Cosmo Andrade Pinheiro, Catarina Pereira Leite, Luiz Everson da Silva, Cícero Deschamps, Gonçalo Emanuel Carvalho Gondim, Nadghia Figueiredo Leite Sampaio, Joara Nályda Pereira Carneiro, Cícera Natália Figueiredo Leite Gondim, Henrique Douglas Melo Coutinho, and Wanderlei do Amaral
- Subjects
Traditional medicine ,Plant Science ,Biology ,Antimicrobial ,law.invention ,Minimum inhibitory concentration ,Phytochemical ,law ,medicine ,Achyrocline satureioides ,Gas chromatography ,Antibacterial activity ,Agronomy and Crop Science ,Essential oil ,Norfloxacin ,Biotechnology ,medicine.drug - Abstract
Achyrocline satureioides (Lam.) DC is a plant in the Asteraceae family that is commonly known as macela or marcela. It has antidiarrheal, antispasmodic, analgesic, anti-inflammatory and antimicrobial properties. The species Staphylococcus aureus, Pseudomonas aeruginosa and Escherichia coli are of great clinical importance, thus more evidence on the discovery of new compounds from plant species is required. The aim of this study was to evaluate the phytochemical profile and in vitro antimicrobial potential of essential oils from A. satureioides. A Minimal Inhibitory Concentration (MIC) test was performed using microdilution, and the chemical composition of the essential oil was analyzed using Gas Chromatography coupled to Mass spectrometry (GC / MS). Using the GC / MS analysis, we identified alpha-pinene and (E)-cariophilene as major phytoconstituents. We observed synergisms when the essential oil was combined with gentamicin and ampicillin against the S. aureus strain, as well as against E. coli when combined with gentamicin and norfloxacin. The results were promising, but further research is needed to assess the toxicity of A. satureioides oil and its potential for therapeutic use in humans.
- Published
- 2021
22. Interface-Mediated Mechanism of Action—The Root of the Cytoprotective Effect of Immediate-Release Omeprazole
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Catarina Pereira-Leite, Salette Reis, Sven Jakobtorweihen, Ana Coutinho, Philippe Fontaine, Daniela Lopes-de-Campos, Cláudia Nunes, Manuel Prieto, and Bruno Sarmento
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Absorption (pharmacology) ,1,2-Dipalmitoylphosphatidylcholine ,Drug Compounding ,Lipid Bilayers ,Static Electricity ,Fluorescence Polarization ,Molecular Dynamics Simulation ,01 natural sciences ,Phase Transition ,Hydrophobic effect ,03 medical and health sciences ,chemistry.chemical_compound ,X-Ray Diffraction ,Scattering, Small Angle ,Drug Discovery ,Static electricity ,medicine ,Omeprazole ,030304 developmental biology ,0303 health sciences ,Hydrogen-Ion Concentration ,Enteric coating ,0104 chemical sciences ,Drug Liberation ,010404 medicinal & biomolecular chemistry ,Mechanism of action ,chemistry ,Dipalmitoylphosphatidylcholine ,Biophysics ,Molecular Medicine ,lipids (amino acids, peptides, and proteins) ,medicine.symptom ,Hydrophobic and Hydrophilic Interactions ,Fluorescence anisotropy ,medicine.drug - Abstract
Omeprazole is usually administered under an enteric coating. However, there is a Food and Drug Administration-approved strategy that enables its release in the stomach. When locally absorbed, omeprazole shows a higher efficacy and a cytoprotective effect, whose mechanism was still unknown. Therefore, we aimed to assess the effect of the absorption route on the gastric mucosa. 2D and 3D models of dipalmitoylphosphatidylcholine (DPPC) at different pH values (5.0 and 7.4) were used to mimic different absorption conditions. Several experimental techniques, namely, fluorescence studies, X-ray scattering methodologies, and Langmuir monolayers coupled with microscopy, X-ray diffraction, and infrared spectroscopy techniques, were combined with molecular dynamics simulations. The results showed that electrostatic and hydrophobic interactions between omeprazole and DPPC rearranged the conformational state of DPPC. Omeprazole intercalates among DPPC molecules, promoting domain formation with untilted phospholipids. Hence, the local release of omeprazole enables its action as a phospholipid-like drug, which can reinforce and protect the gastric mucosa.
- Published
- 2021
23. An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the <scp> OTUD5 </scp> gene
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Abdul Halim Kassim, Erina Sasaki, Arndt Rolfs, Ronja Hotakainen, Peter Bauer, William Reardon, Kornelia Tripolszki, Catarina Pereira, and Aida M. Bertoli-Avella
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Male ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Candidate gene ,Mutation, Missense ,Disease ,030105 genetics & heredity ,Asymptomatic ,03 medical and health sciences ,Genes, X-Linked ,Endopeptidases ,Intellectual disability ,Genetics ,medicine ,Humans ,Missense mutation ,Abnormalities, Multiple ,Genetic Association Studies ,Genetics (clinical) ,Family Health ,Whole Genome Sequencing ,business.industry ,Infant, Newborn ,Syndrome ,medicine.disease ,Hypotonia ,Pedigree ,Hydrocephalus ,030104 developmental biology ,Neurodevelopmental Disorders ,Genes, Lethal ,medicine.symptom ,business ,Ventriculomegaly - Abstract
We describe an X-linked syndrome in 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with intrauterine growth retardation, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. We performed genome sequencing in four individuals and identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. OTUD5 was considered as a candidate gene based on two previous missense variants detected in patients with intellectual disability. In conclusion, we define a syndrome associated with OTUD5 defects and add compelling evidence of genotype-phenotype association. This finding ended the long diagnostic odyssey of this family.
- Published
- 2020
24. In vitro Antioxidant and Enzyme Inhibitory Properties and Phenolic Contents of Crude Extracts and Fractions from Different Organs of the HalophyteLycium europaeum L
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Chawki Bensouici, Luísa Custódio, Malika Bennaceur, Maria João Rodrigues, Catarina Pereira, Houaria Bendjedou, and Houari Benamar
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Lycium europaeum ,Antioxidant ,Traditional medicine ,Chemistry ,medicine.medical_treatment ,Halophyte ,medicine ,General Pharmacology, Toxicology and Pharmaceutics ,Enzyme inhibitory ,In vitro - Abstract
Background: Lycium europaeum L. is a medicinal and edible Mediterranean halophyte spiny shrub. However, studies regarding its biological properties focused mainly on its aerial organs. Objective: The objective of the present work was to make a comparative evaluation of the in vitro antioxidant and enzyme inhibitory activities of ethanol extracts and fractions (chloroform, ethyl acetate, n-butanol and aqueous) from roots and leaves of L. europaeum, along with its total phenolic, flavonoid and tannin contents. Methods: The antioxidant activity was evaluated by the 1,1-diphenyl-2-picrylhydrazyl (DPPH), 2,2’-azino-bis-3-ethylbenzthiazoline-6-sulphonic acid (ABTS), superoxide radical, β-carotene bleaching, cupric reducing and ferric reducing activity methods Results: The n-butanol fraction from roots had the highest antioxidant activity in all the assays, and was also the most active against acetylcholinesterase, butyrylcholinesterase and urease (IC50 values of 92.63, 118.26 and 135.60 μgmL-1, respectively). This fraction showed a high level of total phenolic, flavonoid and tannin contents. Conclusion: The results suggest L. europaeum, especially its roots, as a candidate to be further explored as a source of bioactive products.
- Published
- 2022
25. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
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Najim Ameziane, Dan Diego-Alvarez, Wafaa Eyaid, Nouriya Al-Sannaa, Catarina Pereira, Ahmed Alfares, Aida M. Bertoli-Avella, Jozef Hertecant, Pilar Guatibonza, Abdulrahman Alswaid, Susan Zielske, Arndt Rolfs, María Calvo, Marius-Ionuț Iurașcu, Aisha M. Al-Shamsi, Yasemin Alanay, Florian Vogel, Christian Beetz, Peter Bauer, Krishna Kumar Kandaswamy, Monica Segura-Castel, Amal Alhashem, Kapil Kampe, Maria Eugenia Rocha, Willie Reardon, Majid Alfadhel, Dimitar Ugrinovski, Michal Zawada, Gitte Warnack, Mohammed AlBalwi, Martin Werber, Claudia Cozma, Omid Paknia, Fuad Al Mutairi, Natalia Herrera-Ordonez, and Acibadem University Dspace
- Subjects
Oncology ,0303 health sciences ,medicine.medical_specialty ,Diagnostic methods ,business.industry ,030305 genetics & heredity ,Genomics ,Article ,DNA sequencing ,03 medical and health sciences ,Unknown Significance ,RNA analysis ,Internal medicine ,Genetics research ,Cohort ,Genetics ,medicine ,Biomarker (medicine) ,Medical diagnosis ,business ,Genetics (clinical) ,Exome sequencing ,030304 developmental biology - Abstract
Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome sequencing (ES), few studies are available regarding the advantages of its clinical application. We analyzed 1007 consecutive index cases for whom GS was performed in a diagnostic setting over a 2-year period. We reported pathogenic and likely pathogenic (P/LP) variants that explain the patients’ phenotype in 212 of the 1007 cases (21.1%). In 245 additional cases (24.3%), a variant of unknown significance (VUS) related to the phenotype was reported. We especially investigated patients which had had ES with no genetic diagnosis (n = 358). For this group, GS diagnostic yield was 14.5% (52 patients with P/LP out of 358). GS should be especially indicated for ES-negative cases since up to 29.6% of them could benefit from GS testing (14.5% with P/LP, n = 52 and 15.1% with VUS, n = 54). Genetic diagnoses in most of the ES-negative/GS-positive cases were determined by technical superiority of GS, i.e., access to noncoding regions and more uniform coverage. Importantly, we reported 79 noncoding variants, of which, 41 variants were classified as P/LP. Interpretation of noncoding variants remains challenging, and in many cases, complementary methods based on direct enzyme assessment, biomarker testing and RNA analysis are needed for variant classification and diagnosis. We present the largest cohort of patients with GS performed in a clinical setting to date. The results of this study should direct the decision for GS as standard second-line, or even first-line stand-alone test.
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- 2020
26. CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
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Marek Ostaszewski, Karl Kunzelmann, Carlos M. Farinha, Catarina Pereira, Michael A. Gray, Irina Balaur, Margarida D. Amaral, Alexander Mazein, and André O. Falcão
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Cellular signalling networks ,Cystic Fibrosis ,Science ,Systems biology ,Regulator ,Cystic Fibrosis Transmembrane Conductance Regulator ,Diseases ,Computational biology ,Biology ,Web Browser ,Cystic fibrosis ,Article ,Genotype ,Databases, Genetic ,medicine ,Humans ,Gene ,Chloride channels ,Multidisciplinary ,Molecular medicine ,Endoplasmic reticulum ,medicine.disease ,Transmembrane protein ,Mechanisms of disease ,Chloride channel ,Medicine ,Disease Susceptibility ,Biomarkers ,Software ,Signal Transduction - Abstract
Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assist in the collection and visualization of CF data to extract additional biological significance and find novel therapeutic targets. Here, we present the CyFi-MAP—a disease map repository of CFTR molecular mechanisms and pathways involved in CF. Specifically, we represented the wild-type (wt-CFTR) and the F508del associated processes (F508del-CFTR) in separate submaps, with pathways related to protein biosynthesis, endoplasmic reticulum retention, export, activation/inactivation of channel function, and recycling/degradation after endocytosis. CyFi-MAP is an open-access resource with specific, curated and continuously updated information on CFTR-related pathways available online at https://cysticfibrosismap.github.io/. This tool was developed as a reference CF pathway data repository to be continuously updated and used worldwide in CF research.
- Published
- 2021
27. Aging safely in Alentejo – understanding for action - preventing falls and violence against older people: study rationale, aims, design, and preliminary results
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Felismina Rosa Parreira Mendes, Gorete Reis, Jorge Miguel Bravo, and Catarina Pereira
- Subjects
Gerontology ,Aging ,medicine.medical_specialty ,Physical fitness ,Violence ,Fear of falling ,Elderly ,Humans ,Medicine ,Prospective Studies ,Accidental fall ,Social isolation ,Aged ,Retrospective Studies ,business.industry ,Research ,Prevention ,Public health ,Public Health, Environmental and Occupational Health ,Elder abuse ,Fear ,Anthropometry ,Cross-Sectional Studies ,Risk factors ,Accidental Falls ,Public aspects of medicine ,RA1-1270 ,Biostatistics ,medicine.symptom ,business - Abstract
Background Falls and violence against older people might represent a joint public health problem, as both may result in injury, fear, social isolation, sedentary behavior and dependence or even death. The ESACA project “Aging safely in Alentejo - Understanding for action” was designed to promote the healthy aging of older people in Alentejo by preventing the occurrence of falls and violence. This study aimed to report the ESACA protocol and the preliminary outcomes. Methods The ESACA study has a twofold design as a cross-sectional study that included retrospective and prospective surveys. The participants were 508 community-dwelling older people. Assessments included falls, the risk of violence against older people, sociodemographic characteristics, health-related measurements, fear of falling, anthropometric measures and body composition, functional physical fitness, physical activity, and environmental hazards. Results Among the participants, 43% were fallers, 21% were recurrent fallers, and 22% were victims of one or more kinds of violence (psychological: 17.1%, physical: 5.6%, and patrimonial: 3.0%). Moreover, the cumulative results suggested high risk on several risk factors for falling (7 factors: 0.6% to 2 factors: 17.4%) and of violence (26.7%). Conclusions In the ESACA project, a wide range of potential influencing factors on falls and violence risk factors were measured, and comprehensive quality control measures were applied. Overall, the results suggest that for falls and violence prevention strategies to be effective, it is essential to evaluate, diagnose, and inform all stakeholders in a directed and useful way. Moreover, we believe that our project outcomes may help change mindsets and behaviors by involving people in active aging and well-being programs that promote exercise and avoid isolation.
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- 2021
28. Key factor cutoffs and interval reference values for stratified fall risk assessment in community-dwelling older adults: the role of physical fitness, body composition, physical activity, health condition, and environmental hazards
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Felismina Rosa Parreira Mendes, Gabriela Almeida, Ana Rita Matias, Catarina Pereira, Guida Veiga, Jorge Miguel Bravo, and Ana Cruz-Ferreira
- Subjects
medicine.medical_specialty ,Physical fitness ,Cutoffs ,Falling ,Elderly ,Reference Values ,Environmental health ,Epidemiology ,Humans ,Medicine ,Risk factor ,Exercise ,Risk stratification ,Aged ,Risk assessment ,Balance (ability) ,business.industry ,Research ,Public health ,Public Health, Environmental and Occupational Health ,Physical Fitness ,Body Composition ,Accidental Falls ,Independent Living ,Public aspects of medicine ,RA1-1270 ,Biostatistics ,business ,Fall prevention - Abstract
Background Fall risk assessment and determination of older adults’ individual risk profiles are crucial elements in fall prevention. As such, it is essential to establish cutoffs and reference values for high and low risk according to key risk factor outcomes. This study main objective was to determine the key physical fitness, body composition, physical activity, health condition and environmental hazard risk outcome cutoffs and interval reference values for stratified fall risk assessment in community-dwelling older adults. Methods Five-hundred community-dwelling Portuguese older adults (72.2 ± 5.4 years) were assessed for falls, physical fitness, body composition, physical (in) activity, number of health conditions and environmental hazards, and sociodemographic characteristics. Results The established key outcomes and respective cutoffs and reference values used for fall risk stratification were multidimensional balance (low risk: score > 33, moderate risk: score 32–33, high risk: score 30–31, and very high: score 44 kg, moderate risk: 42–44 kg, high risk: 39–41 kg, and very high: 42%); total physical activity (low risk: > 2800 Met-min/wk., moderate risk: 2300–2800 Met-min/wk., high risk: 1900–2300 Met-min/wk., and very high: 5 h/day); health conditions (low risk: n n = 3, high risk: n = 4–5, and very high: n > 5); and environmental hazards (low risk: n n = 5, high risk: n = 6–8, and very high: n > 8). Conclusions Assessment of community-dwelling older adults’ fall risk should focus on the above outcomes to establish individual older adults’ fall risk profiles. Moreover, the design of fall prevention interventions should manage a person’s identified risks and take into account the determined cutoffs and respective interval values for fall risk stratification.
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- 2021
29. A successful case of aortic intramural hematoma with type-A aortic dissection: symptoms first
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Vanessa Chaves, Clara Gomes, Pedro von Hafe, Carlos X. Resende, Sofia Tavares, Pedro S. Rodrigues, José L. Pinheiro Torres, and Catarina Pereira
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Aortic dissection ,medicine.medical_specialty ,business.industry ,Intramural hematoma ,Medicine ,General Medicine ,business ,medicine.disease ,Surgery - Published
- 2021
30. Benefits of two twelve-week multimodal programs on reaction time in community dwellings at risk of falling: preliminary results
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José Marmeleira, Armando Raimundo, Jorge Miguel Bravo, Felismina Rosa Parreira Mendes, Hugo Rosado, and Catarina Pereira
- Subjects
medicine.medical_specialty ,Falling (accident) ,Physical medicine and rehabilitation ,business.industry ,Public Health, Environmental and Occupational Health ,medicine ,medicine.symptom ,business ,Balance impairment - Abstract
Background A slower reaction time (RT) performance is considered a risk factor for falls. Different approaches as a psychomotor intervention (involving neuromotor exercises) or the whole-body vibration (inducing neurophysiological changes) may reduce the risk of falls. Nevertheless, a combined program may promote greater gains. This study aimed to investigate the acceptability and the effect of two multimodal programs on RT in community-dwelling older adults fallers or balance-impaired. Methods A total of 37 participants (74.3 ± 5.2 years) were divided into two groups (3x/week): experimental group 1 (psychomotor intervention); experimental group 2 [EG2] (combined program: psychomotor intervention + whole-body vibration). The Deary-Liewald reaction time task assessed RT. Simple and choice reaction time [CRT] (ms) tasks were recorded under single and dual-task (DT) paradigms. DT cost was also computed. Results The attendance rate was 86.3%. Wilcoxon test comparisons revealed significant differences between baseline and post-intervention evaluations in the EG2. The improvement was observed in the variable ‘CRT-DT’, in which participants spent less time to perform the task (1026.0 ± 153.4 vs. 960.4 ± 160.9, P = 0.040). The correspondent effect size was medium (r = 0.33). The DT cost was also decreased in CRT-DT by 3.9%. No significant differences between groups were found. Conclusions This study demonstrated that both programs were safe and highly attended. The results suggest that a combined intervention (psychomotor intervention + whole-body vibration) should be privileged to improve RT and reduce the risk of falls. Trial Registration: ClinicalTrials.gov Identifier: NCT03446352. Funding: This study was supported by the ESACA Project (Grant ALT20-03-0145-FEDER-000007) and by FCT (SFRH/BD/147398/2019).
- Published
- 2021
31. Clonal expansion across the seas as seen through CPLP-TB database: A joint effort in cataloguing Mycobacterium tuberculosis genetic diversity in Portuguese-speaking countries
- Author
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Ana Júlia Reis, Igor Mokrousov, Diana Machado, Ana Bárbara Scholante Silva, Nuno Taveira, Fernando Maltez, Jaciara Diniz, Hugo Silva, David Couvin, Pedro Eduardo Almeida da Silva, Taane G. Clark, Leonardo Esteves, Elis R. Dalla-Costa, Amabelia Rodrigues, Paulo Rabna, Afranio Lineu Kritski, Fernanda Abilleira, José Roberto Lapa e Silva, Ruth McNerney, Arnab Pain, João Luis Rheingantz Scaini, Maíra Macedo, Rita Macedo, Luísa Jordão, Clarice Brum, Elizabeth Coelho, Isabel Couto, Nalin Rastogi, Sofia Viegas, Isabel Portugal, Maria Lucia Rosa Rossetti, Jorge Ramos, Carla Silva, João Perdigão, Sofia Clemente, Catarina Pereira, Andrea von Groll, Miguel Viveiros, Faculdade de Farmácia da Universidade de Lisboa, Universidade Federal do Rio Grande (FURG), Universidade Nova de Lisboa = NOVA University Lisbon (NOVA), Centro de Desenvolvimento Científico e Tecnológico [Porto Alegre] (CDCT), Instituto Nacional de Saùde Dr Ricardo Jorge [Portugal] (INSA), Hospital Curry Cabral [Lisbon, Portugal], Hospital da Divina Providência [Luanda], Ministry of Health [Mozambique], Institut national de santé publique [Bisseau], Instituto Superior de Ciências da Saúde Egas Moniz [Portugal], Federal University of Rio de Janeiro, Institute of Thoracic Diseases, Laboratory of Molecular Epidemiology and Evolutionary Genetics [St. Petersburg, Russia], Institut Pasteur de Saint-Pétersbourg, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Unité de la Tuberculose et des Mycobactéries - WHO Supranational TB Reference Laboratory, Institut Pasteur de la Guadeloupe, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), King Abdullah University of Science and Technology (KAUST), University of Cape Town, London School of Hygiene and Tropical Medicine (LSHTM), Universidade Luterana do Brasil (ULBRA), Financial support was provided by the European Society of Clinical Microbiology and Infectious Diseases, for which we would like to would like to acknowledge the Study Group for Mycobacterial Infections, Fundação CAPES [PVE-CAPES. 88881.064961/2014-01- Jose R. Lapa e Silva/UFRJ coordinator], Genotyping and susceptibility profile of Mycobacterium tuberculosis clinical isolates from Rio Grande, Brazil were funded by Apoio a Projetos de Pesquisa em Doenças Negligenciadas, Brazil/MCTI/CNPq/MS-SCTIE – Decit [404081/2012-6] and by Programa Pesquisa para o SUS – PPSUS - FAPERGS/MS/CNPq/SESRS [1193-2551/13-6], MIRU-VNTR typing and spoligotyping of Mycobacterium tuberculosis clinical isolates from Porto Alegre, Brazil were funded by National Council of Research [CNPq/MCTI/Universal - Project number: 441499/2014-7], Fundação para a Ciência e a Tecnologia (FCT) Portugal [PTDC/SAU-EPI/122400/2010], part of the EDCTP2 program supported by the European Union, Fundação Calouste Gulbenkian, Portugal [Project ref. P-99934]. JP was supported by a post doc fellowship from project [PTDC/SAU-EPI/122400/2010] and by fellowship [SFRH/BPD/95406/2013] from FCT. The phylogenetic analysis work at Nalin Rastogi's lab was supported by a FEDER grant financed by the European Union and Guadeloupe Region (Programme Opérationnel FEDER-Guadeloupe-Conseil Régional 2014-2020, Grant number 2015-FED-192). IM was supported by Russian Science Foundation (grant 14-14-00292). AP was supported by a faculty baseline funding from KAUST [BAS/1/1020-01-01]. DM was supported by FCT fellowship [SFRH/BPD/100688/2014] and DM, IC MV are thankful to [GHTM UID/Multi/04413/20139] from FCT and to projects 'ForDILAB-TB' and 'A implementação de um novo método de identificação rápida do complexo M. tuberculosis nos Laboratórios de Referência da Tuberculose de Maputo e Beira' from Fundação Calouste Gulbenkian and the Community of the Portuguese Speaking Countries (CPLP). CS was supported by FCT [SFRH/BD/73579/2010]. TC is funded by the Medical Research Council UK (Grant no. MR/K000551/1 and MR/M01360X/1, MR/N010469/1, MC_PC_15103)., European Project: 2015-FED-192,FEDER-Guadeloupe, and Universidade de Lisboa = University of Lisbon (ULISBOA)
- Subjects
Infecções Respiratórias ,0301 basic medicine ,Latin Americans ,Minisatellite Repeats ,MIRU-VNTR ,Databases, Genetic ,Tuberculosis, Multidrug-Resistant ,Guinea-Bissau ,Clade ,Mozambique ,Migration ,Spoligotyping ,Molecular Epidemiology ,Bacterial Typing Techniques ,3. Good health ,Infectious Diseases ,language ,Brazil ,Microbiology (medical) ,medicine.medical_specialty ,Tuberculosis ,030106 microbiology ,Biology ,Microbiology ,Article ,Mycobacterium tuberculosis ,03 medical and health sciences ,Genetics ,medicine ,Humans ,[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology ,14. Life underwater ,Molecular Biology ,Ecology, Evolution, Behavior and Systematics ,Genetic diversity ,Portugal ,Public health ,Online database ,Genetic Variation ,Mycobacteria ,LAM ,medicine.disease ,biology.organism_classification ,[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology ,language.human_language ,030104 developmental biology ,Angola ,Drug resistance ,Portuguese ,Demography - Abstract
Tuberculosis (TB) remains a major health problem within the Community of Portuguese Language Speaking Countries (CPLP). Despite the marked variation in TB incidence across its member-states and continued human migratory flux between countries, a considerable gap in the knowledge on the Mycobacterium tuberculosis population structure and strain circulation between the countries still exists. To address this, we have assembled and analysed the largest CPLP M. tuberculosis molecular and drug susceptibility dataset, comprised by a total of 1447 clinical isolates, including 423 multidrug-resistant isolates, from five CPLP countries. The data herein presented reinforces Latin American and Mediterranean (LAM) strains as the hallmark of M. tuberculosis populational structure in the CPLP coupled with country-specific differential prevalence of minor clades. Moreover, using high-resolution typing by 24-loci MIRU-VNTR, six cross-border genetic clusters were detected, thus supporting recent clonal expansion across the Lusophone space. To make this data available to the scientific community and public health authorities we developed CPLP-TB (available at http://cplp-tb.ff.ulisboa.pt), an online database coupled with web-based tools for exploratory data analysis. As a public health tool, it is expected to contribute to improved knowledge on the M. tuberculosis population structure and strain circulation within the CPLP, thus supporting the risk assessment of strain-specific trends., Highlights • The Community of Portuguese Speaking Countries (CPLP) occupies a vast geographical area. • Three CPLP countries are shortlisted in the WHO's list of Top 30 high-burden countries. • Common Mycobacterium tuberculosis population structure denote historical strain flow. • Cross-border clusters suggest recent intercontinental tuberculosis transmission. • CPLP-TB: a novel strain database and framework for collaborative studies and strain tracing.
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- 2019
32. Dual task performance and history of falls in community-dwelling older adults
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Clarissa Biehl-Printes, Catarina Pereira, Daniel Collado-Mateo, Guida Veiga, Armando Costa, and Pablo Tomas-Carus
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Male ,0301 basic medicine ,Aging ,medicine.medical_specialty ,simultaneous task ,Poison control ,Timed Up and Go test ,Biochemistry ,Timed-up and go ,03 medical and health sciences ,Cognition ,Elderly ,0302 clinical medicine ,Endocrinology ,Physical medicine and rehabilitation ,Task Performance and Analysis ,Injury prevention ,Genetics ,medicine ,Humans ,Association (psychology) ,Molecular Biology ,Aged ,Balance (ability) ,Aged, 80 and over ,Human factors and ergonomics ,balance ,Cell Biology ,Test (assessment) ,falling risk ,Cross-Sectional Studies ,030104 developmental biology ,Accidental Falls ,Female ,Independent Living ,Psychology ,human activities ,030217 neurology & neurosurgery - Abstract
Introduction Falls are a common problem for older adults, and the identification of people at high risk of falling is a major challenge to health systems. Objective To evaluate the association between the history of falls and single-task Timed Up and Go Test (single TUG) or dual-task TUG variables. Methods Three hundred seventy seven community-dwelling older persons, with ages ranging from 65 and 92 years, participated in this cross-sectional study. Each participant performed two tests: single TUG and dual TUG. The cognitive task for dual TUG consisted of counting backward by one from 100 while performing the test. The number of cognitive errors, cognitive stops and motor stops were recorded. A new variable comprising time, errors and stops in the dual TUG was computed. Results The number of falls was significantly associated with mean single and dual TUG performance, mean cognitive errors, mean cognitive stops and mean motor stops. The score in the single TUG time was not able to significantly classify participants as fallers or non-fallers in any of the sexes. On the other hand, the variable “dual TUG time spent adding cognitive stops and cognitive errors” achieved the best ability to classify women as fallers or non-fallers, while “dual task cost” and “dual TUG time spent adding cognitive stops” were the best variables to classify men. Conclusions Dual TUG including cognitive stops and cognitive errors may be more capable than the single TUG to detect differences and accurately classify fallers and non-fallers in the elderly.
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- 2019
33. Unravelling the potential of the medicinal halophyte Eryngium maritimum L.: In vitro inhibition of diabetes-related enzymes, antioxidant potential, polyphenolic profile and mineral composition
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Luísa Custódio, Tamára Santos, L. Polesná, Maria João Rodrigues, Francesco Cacciagrano, Marcello Locatelli, Catarina Pereira, and D. Innosa
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0106 biological sciences ,Naringenin ,Infusions ,Ingredients ,Antioxidant ,medicine.medical_treatment ,Wild ,Decoction ,Plant Science ,Eryngium maritimum ,01 natural sciences ,chemistry.chemical_compound ,Biological-activities ,Phenolic composition ,Carvacrol ,medicine ,Decoctions ,Naringin ,2. Zero hunger ,Traditional medicine ,biology ,Multicomponent pattern ,food and beverages ,Catechin ,Plants ,biology.organism_classification ,0104 chemical sciences ,3. Good health ,010404 medicinal & biomolecular chemistry ,chemistry ,Polyphenol ,Products ,010606 plant biology & botany - Abstract
This work searched for the biotechnological potential and chemical characterisation of the medicinal halophyte Eryngium maritimum L. as source of bioactive natural products with enzymatic inhibitory properties and antioxidant capacity. With that aim, herbal formulations traditionally used in folk medicine, namely tisanes (infusions and decoctions) and tinctures, were prepared from four different anatomical organs (roots, stems, leaves and flowers) and assessed for in vitro inhibition of enzymes related with diabetes and for antioxidant potential. Phenolic fingerprinting and mineral contents were also assessed. Sea holly's tisanes, particularly from flowers and leaves, had the highest phenolic content although tinctures were comparatively richer considering the ingestion dosage. The main constituents identified were carvacrol, 2,3-dimethoxybenzoic acid, naringenin, catechin and t-cinnamic acid from the several compounds identified, naringin, naringenin and 2,3-dimethoxybenzoic acid are here firstly described in the genus and epicatechin and carvacrol in the species. In all extracts, sodium was the most abundant mineral, followed by potassium, calcium and magnesium, pointing to possible nutritional applications of these beverages/tinctures asmacronutrients supplementary source. Sea holly's tinctures (stems, leaves and flowers) were capable of inhibiting dietary carbohydrate digestive enzymes (alpha-glucosidase and alpha-amylase) and had in vitro antioxidant potential, particularly flowers. Altogether, results highlight that sea holly extracts, especially tinctures from stems, leaves and flowers, could be a novel source of alpha-glucosidase and alpha-amylase inhibitors, antioxidant compounds and also phenolic and mineral constituents, thus suggesting they may be interesting to further explore as potential health-promoting herbal beverages, food additives or other products. (c) 2018 Published by Elsevier B.V. on behalf of SAAB. Portuguese Foundation for Science and Technology - FCTPortuguese Foundation for Science and Technology [CCMAR/Multi/04326/2013] Portuguese National Budget MIUR, University of Chieti-Pescara "G. d'Annunzio", Chieti, Italy FCT Investigator Programme [IF/00049/2012] FCTPortuguese Foundation for Science and Technology [SFRH/BD/94407/2013, SFRH/BD/116604/2016]
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- 2019
34. Factors influencing physical activity: A cross‐sectional study of the community‐dwelling older adults in a Portuguese rural area
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Cristina Carrasco, Felismina Rosa Parreira Mendes, Catarina Pereira, Pablo Tomas-Carus, and Jorge Bravo
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Gerontology ,Cross-sectional study ,Population ,Physical fitness ,Overweight ,03 medical and health sciences ,Nursing care ,0302 clinical medicine ,medicine ,Humans ,030212 general & internal medicine ,education ,Exercise ,Aged ,Multinomial logistic regression ,education.field_of_study ,Portugal ,030504 nursing ,business.industry ,language.human_language ,Cross-Sectional Studies ,Physical Fitness ,language ,Independent Living ,medicine.symptom ,Portuguese ,Rural area ,0305 other medical science ,business ,Psychology - Abstract
Background There are a variety of intrinsic determinants which are key to understand the reasons for older people to stay (or not) active. Objectives To identify and analyse the factors underlying the physical activity engagement in older Portuguese living in a rural area. Methods A total of 504 community-dwelling older adults (aged ≥65 years) were enrolled in this cross-sectional study. Sociodemographic data, physical activity levels, physical fitness and body composition were analysed. Results Gender, age, income level, lower body strength, overweight, muscle mass and sedentarism (sitting time) were significantly associated with different physical activity levels. The multinomial logistic regression pointed out that dynamic balance, BMI and sitting time for moderate levels, as well as muscle mass for high levels, were the main independent factors that seem to influence the engagement in these levels compared to low physical activity levels. Additionally, classification tree analysis confirmed sitting time, dynamic balance and gender as discriminating factors for physical activity levels. Conclusion Physical fitness-related variables seem to mainly determine the levels of physical activity in the studied population. Thus, nursing care must promote the integration of physical activity into daily life routines of community-dwelling older adults, especially in rural areas. Implications for practice The diverse nature of factors influencing physical activity must be taken into account in primary health care, particularly in rural areas. Nursing care for older people must promote the integration of physical activity into daily life routines of community-dwelling older adults.
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- 2021
35. In Vitro Enzyme Inhibitory and Antioxidant Properties, Cytotoxicity, and LC-DAD-ESI-MS/MS Profile of Extracts from the Halophyte Lotus creticus L
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Maria João Rodrigues, Chloé Placines, Catarina Pereira, José Paulo da Silva, Viana Castañeda-Loaiza, Luísa Custódio, and Gokhan Zengin
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0106 biological sciences ,chemistry.chemical_classification ,0303 health sciences ,Metal chelating activity ,Antioxidant ,ABTS ,DPPH ,medicine.medical_treatment ,01 natural sciences ,03 medical and health sciences ,chemistry.chemical_compound ,Flavonols ,chemistry ,Polyphenol ,medicine ,Myricetin ,Food science ,General Pharmacology, Toxicology and Pharmaceutics ,Quercetin ,030304 developmental biology ,010606 plant biology & botany - Abstract
Background: The halophyte Lotus creticus L. (creta trefoil, Fabaceae) belongs to a family and genus containing several medicinal species, and is considered a promising crop for saline Mediterranean areas. However, to the best of our knowledge, information regarding the biological properties of this species that could increase its biotechnological value is particularly scarce. Objectives: We aimed to evaluate the potential use of creta trefoil collected in Southern Portugal (Algarve) as a source of bioactive products. Methods: Food-grade extracts (water, acetone, ethanol) were obtained by ultrasound-assisted extraction from aerial parts (stems and leaves) and fruits (pods), and evaluated for acute toxicity on mammalian cells. In vitro enzymatic inhibition was appraised on enzymes related to neurodegeneration (acetyl- and butyryl-cholinesterase: AChE and BuChE), type-2 diabetes (T2DM, α-glucosidase, and α-amylase), and hyperpigmentation/food browning (tyrosinase). In vitro, antioxidant activity included radical scavenging towards 1,1-diphenyl-2-picrylhydrazyl (DPPH) and 2,2’-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid (ABTS), ferric-reducing antioxidant power (FRAP), and metal chelating activity on iron and copper. Chemical composition was established by liquid chromatography coupled with a diode array detector (LC-DAD-ESI-MS/MS). Results: Samples were not toxic and were active towards AChE (especially acetone extracts) and BuChE (particularly ethanol and acetone fruits’ extracts). Acetone and water fruit extracts and ethanol extract from aerial organs displayed significant inhibition on α-glucosidase, but low capacity towards amylase. All extracts exhibited a high capacity to inhibit tyrosinase, except water extract from aerial organs. Fruit extracts had, in general, the highest antioxidant capacity, especially ethanol. Fruits exhibited the highest diversity of polyphenols, especially flavonols, catechins, quercetin, myricetin, and its derivatives. Conclusions: Overall, our results suggested that creta trefoil should be further explored as a source of natural products for the management of T2DM, hyperpigmentation disorders, or food additive to prevent food oxidation and browning.
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- 2021
36. Effects of anodal multichannel transcranial direct current stimulation (tDCS) on social-cognitive performance in healthy subjects: A randomized sham-controlled crossover pilot study
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Vânia Lopes, Miguel Castelo-Branco, Carlos Amaral, Joana Crisóstomo, H. Catarina Pereira, Daniela Sousa, Marco Simões, and Ricardo Martins
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medicine.medical_specialty ,Joint attention ,Transcranial direct-current stimulation ,business.industry ,medicine.medical_treatment ,Temporoparietal junction ,Neuropsychology ,Audiology ,medicine.disease ,Facial expression ,Holistic face detection ,Multichannel tDCS ,Social cognition ,Crossover study ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Tolerability ,Autism spectrum disorder ,Medicine ,business ,030217 neurology & neurosurgery - Abstract
Recent studies suggest that temporoparietal junction (TPJ) modulation can influence attention and social cognition performance. Nevertheless, no studies have used multichannel transcranial direct current stimulation (tDCS) over bilateral TPJ to estimate the effects on these neuropsychological functions. The project STIPED is using optimized multichannel stimulation as an innovative treatment approach for chronic pediatric neurodevelopmental disorders, namely in children/adolescents with Autism Spectrum Disorder (ASD). In this pilot study, we aim to explore whether anodal multichannel tDCS coupled with a Joint Attention Task (JAT) influences social-cognitive task performance relative to sham stimulation, both in an Emotion Recognition Task (ERT) and in a Mooney Faces Detection Task (MFDT), as well as to evaluate this technique's safety and tolerability. Twenty healthy adults were enrolled in a randomized, single-blinded, sham-controlled, crossover study. During two sessions, participants completed the ERT and the MFDT before and after 20 min of sham or anodal tDCS over bilateral TPJ. No significant differences on performance accuracy and reaction time were found between stimulation conditions for all tasks, including the JAT. A significant main time effect for overall accuracy and reaction time was found for the MFDT. Itching was the most common side effect and stimulation conditions detection was at chance level. Results suggest that multichannel tDCS over bilateral TPJ does not affect performance of low-level emotional recognition tasks in healthy adults. Although preliminary safety and tolerability are demonstrated, further studies over longer periods will be pursued to investigate the clinical efficacy in children/adolescents with ASD, where social cognition impairments are preponderant.
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- 2021
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37. Unraveling the Role of Drug-Lipid Interactions in NSAIDs-Induced Cardiotoxicity
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Salette Reis, Kinga Burdach, Marina Figueiredo, Catarina Pereira-Leite, and Cláudia Nunes
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0301 basic medicine ,Drug ,Naproxen ,Membrane permeability ,media_common.quotation_subject ,Filtration and Separation ,Pharmacology ,lcsh:Chemical technology ,partition coefficient ,01 natural sciences ,Article ,03 medical and health sciences ,Diclofenac ,membrane structure ,0103 physical sciences ,medicine ,Chemical Engineering (miscellaneous) ,naproxen ,lcsh:TP1-1185 ,lcsh:Chemical engineering ,Lipid bilayer ,media_common ,Cardiotoxicity ,010304 chemical physics ,Chemistry ,Process Chemistry and Technology ,lcsh:TP155-156 ,Nap ,diclofenac ,030104 developmental biology ,membrane permeability ,Toxicity ,mitochondrial membranes ,medicine.drug - Abstract
Cardiovascular (CV) toxicity is nowadays recognized as a class effect of non-aspirin nonsteroidal anti-inflammatory drugs (NSAIDs). However, their mechanisms of cardiotoxicity are not yet well understood, since different compounds with similar action mechanisms exhibit distinct cardiotoxicity. For instance, diclofenac (DIC) is among the most cardiotoxic compounds, while naproxen (NAP) is associated with low CV risk. In this sense, this study aimed to unravel the role of drug-lipid interactions in NSAIDs-induced cardiotoxicity. For that, DIC and NAP interactions with lipid bilayers as model systems of cell and mitochondrial membranes were characterized by derivative spectrophotometry, fluorometric leakage assays, and synchrotron X-ray scattering. Both DIC and NAP were found to have the ability to permeabilize the membrane models, as well as to alter the bilayers&rsquo, structure. The NSAIDs-induced modifications were dependent on the lipid composition of the membrane model, the three-dimensional structure of the drug, as well as the drug:lipid molar ratio tested. Altogether, this work supports the hypothesis that NSAIDs-lipid interactions, in particular at the mitochondrial level, may be another key step among the mechanisms underlying NSAIDs-induced cardiotoxicity.
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- 2020
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38. Vici syndrome in an Egyptian infant: case report and differential diagnosis of inherited hypopigmented disorders
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Marwa El-Saeed El-Deeb, Catarina Pereira, Aya Attya Abeesh, and Marwa S. Abd Elmaksoud
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0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,lcsh:QH426-470 ,Genetic counseling ,Cardiomyopathy ,03 medical and health sciences ,0302 clinical medicine ,Case report ,medicine ,Vici syndrome ,Agenesis of the corpus callosum ,Genetics (clinical) ,Immunodeficiency ,Genetic testing ,Hypopigmentation ,lcsh:R5-920 ,medicine.diagnostic_test ,business.industry ,Infant ,Syndrome ,medicine.disease ,lcsh:Genetics ,030104 developmental biology ,Vici ,Differential diagnosis ,medicine.symptom ,lcsh:Medicine (General) ,business ,030217 neurology & neurosurgery - Abstract
Background Vici syndrome is a severe inherited multisystem disease caused by mutations in the EPG5 gene. The diagnosis depends on the constellation of cardinal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency followed by confirmation by genetic testing. We report an Egyptian infant with Vici syndrome carrying a homozygous splice site variant (c.1252+1G>T; NM_020964.2) in the EPG5 gene, detailed clinical description, outcome, and differential diagnosis of inherited hypopigmentation disorders associated with neurological manifestations. Case presentation The infant initially presented with oculocutaneous hypopigmentation, agenesis of the corpus callosum, and immunodeficiency. A few months later, a diagnosis of dilated cardiomyopathy was made. Family history revealed 2 deceased siblings phenotypically matching our index infant. He died at the age of 15 months with acute respiratory failure. Conclusion The accurate diagnosis of such rare diseases with genetic confirmation is vital for proper clinical decision-making, genetic counseling of the affected families, and future genotype-phenotype correlation studies.
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- 2020
39. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
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Christian Kubisch, Robert Rubinsztajn, Arianne Llamos Paneque, Philippe Manivet, Catarina Pereira, Laila Selim, Nathalie Escande-Beillard, Abigail Loh, Peter Bauer, Catherine Bartoli, Song-Hua Lee, Morgane Le Mao, Hϋlya Kayserili, Coraline Airault, Nihal M. Al Menabawy, Lisa Martino, Yosef Gruenbaum, Guy Lenaers, Antoine Muchir, Agnès Rötig, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Sahar Elouej, Sheela Nampoothiri, Chayki Charar, Jean-François Deleuze, Karim Harhouri, Bruno Reversade, Davor Lessel, Geneviève Baujat, ACS - Heart failure & arrhythmias, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Amrita Institute of Medical Sciences and Research Center, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Koç University, Cairo University Children Hospital, Medical Genetics Service Specialties Hospital, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Hôpital Necker, The Hebrew University of Jerusalem (HUJ), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CENTOGENE AG, Institute of Medical Biology A*STAR, Sorbonne Université (SU), CeleScreen SAS, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-10-INBS-0004,France-BioImaging,Développment d'une infrastructure française distribuée coordonnée(2010), LENAERS, Guy, INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE - - Amidex2011 - ANR-11-IDEX-0001 - IDEX - VALID, Medical Genomics - - GENMED2010 - ANR-10-LABX-0013 - LABX - VALID, Développment d'une infrastructure française distribuée coordonnée - - France-BioImaging2010 - ANR-10-INBS-0004 - INBS - VALID, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Escande-Beillard, Nathalie, Reversade, Bruno, Elouej,Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn,Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara, and School of Medicine
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0301 basic medicine ,Premature aging ,Senescence ,Pathology ,medicine.medical_specialty ,endocrine system ,animal structures ,Science ,[SDV]Life Sciences [q-bio] ,General Physics and Astronomy ,Apoptosis ,General Biochemistry, Genetics and Molecular Biology ,Progeroid syndromes ,Article ,Nuclear envelope ,LMNA ,03 medical and health sciences ,0302 clinical medicine ,Mitophagy ,Genetics research ,medicine ,lcsh:Science ,Multidisciplinary ,business.industry ,Glomerulosclerosis ,General Chemistry ,Energy metabolism ,medicine.disease ,3. Good health ,Mandibuloacral dysplasia ,[SDV] Life Sciences [q-bio] ,030104 developmental biology ,Mitochondrial Membrane Protein ,Next-generation sequencing ,Medicine ,lcsh:Q ,business ,030217 neurology & neurosurgery - Abstract
Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations in MTX2, encoding Metaxin-2 (MTX2), an outer mitochondrial membrane protein, in patients presenting with a severe laminopathy-like mandibuloacral dysplasia characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis and severe hypertension. Loss of MTX2 in patients’ primary fibroblasts leads to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients’ fibroblasts are resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. Interestingly, secondary nuclear morphological defects are observed in both MTX2-mutant fibroblasts and mtx-2-depleted C. elegans. We thus report the identification of a severe premature aging syndrome revealing an unsuspected link between mitochondrial composition and function and nuclear morphology, establishing a pathophysiological link with premature aging laminopathies and likely explaining common clinical features., Association Française contre les Myopathies (AFM); Deutsche Forschungsgemeinschaft; GENMED Laboratory of Excellence on Medical Genomics, Agence Nationale de la Recherche; Institut National de la Santé et de la Recherche Médicale (INSERM); Aix-Marseille University (AMU) by the RAREMED Amidex Project
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- 2020
40. Exploring the halophyte Cistanche phelypaea (L.) Cout as a source of health promoting products: In vitro antioxidant and enzyme inhibitory properties, metabolomic profile and computational studies
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Gokhan Zengin, Adriano Mollica, Odeta Celaj, Brigida D'Abrosca, Azzurra Stefanucci, Catarina Pereira, Maria João Rodrigues, Luísa Custódio, Francesca Trampetti, Selçuk Üniversitesi, Fen Fakültesi, Biyoloji Bölümü, Zengin, Gökhan, Francesca, Trampetti, Catarina, Pereira, Maria João Rodrigues, Odeta, Celaj, D'Abrosca, Brigida, Gokhan, Zengin, Adriano, Mollica, Azzurra, Stefanucci, and Luísa, Custódio
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Iridoid Glycosides ,Antioxidant ,Cistanche ,Magnetic Resonance Spectroscopy ,Tyrosinase ,medicine.medical_treatment ,Clinical Biochemistry ,Ethyl acetate ,Pharmaceutical Science ,01 natural sciences ,Plant Roots ,Antioxidants ,Analytical Chemistry ,chemistry.chemical_compound ,Drug Discovery ,Cholinesterases ,Enzyme Inhibitors ,Spectroscopy ,Butyrylcholinesterase ,2. Zero hunger ,chemistry.chemical_classification ,Plant Stems ,Chemistry ,Salt-Tolerant Plants ,Free Radical Scavengers ,3. Good health ,Molecular Docking Simulation ,Biochemistry ,Carbohydrate hydrolysing enzymes ,Skin hyperpigmentation ,Echinacoside ,Flowers ,Phenylethanoid glycosides ,medicine ,Metabolomics ,Computational approach ,Herba ,010405 organic chemistry ,Plant Extracts ,Tubulosa ,010401 analytical chemistry ,Chemical-constituents ,Glycoside ,Cholinesterase ,NMR ,0104 chemical sciences ,Oxidative stress ,Oxidative stre ,Carbohydrate hydrolysing enzyme - Abstract
WOS: 000456899500016, PubMed: 30529825, In this study, ethyl acetate, acetone, ethanol and water extracts from flowers, stems and roots of Cistanche phelypaea (L.) Cout were appraised for radical scavenging activity (RSA) towards 1,1-diphenyl-2-picrylhydrazyl,2,2-azino-bis(3-ethylbenzo-thiazoline-6-sulfonic acid) and superoxide free radicals, and for metal chelating activities on iron and copper ions. The water extracts had the highest antioxidant activity, especially those from roots and flowers, and were further appraised for in vitro inhibition of enzymes implicated on the onset of human ailments, namely acetyl- (AChE) and butyrylcholinesterase (BuChE) for Alzheimer's disease, alpha-glucosidase and alpha-amylase for diabetes, and tyrosinase for skin hyper-pigmentation disorders. The extracts had a higher activity towards BuChE, and the roots extract had the highest capacity to inhibit tyrosinase. Samples showed a low capacity to inhibit carbohydrate hydrolysing enzymes, except for the root extract with a good inhibition on glucosidase. Samples were then characterized by NMR (1D and 2D): the main metabolites identified in the flowers extract were iridoid glycosides, in particular gluroside and bartsioside. In stems, phenylehanoid glycosides (PhGs) and iri doids were detected, especially acteoside. In roots were detected essentially PhGs, mainly echinacoside and tubuloside A. Docking studies were performed on the identified compounds. A favorable binding energy of tubuloside A to tyrosinase was calculated, and indicated this compound as a possible competitive inhibitor of alpha-glucosidase and tyrosinase. Our results suggest that C. phelypeae is a promising source of biologically-active compounds with health promoting properties for pharmaceutical and biomedical applications. (C) 2018 Elsevier B.V. All rights reserved., Foundation for Science and Technology (FCT, Portugal)Portuguese Foundation for Science and Technology; Portuguese National Budget funding through the CCMAR project [CCMAR/Multi/04326/2013]; FCTPortuguese Foundation for Science and Technology [IF/00049/2012, SFRH/BD/94407/2013, SFRH/BD/116604/2016], This work was supported by the Foundation for Science and Technology (FCT, Portugal) and by the Portuguese National Budget funding through the CCMAR/Multi/04326/2013 project. Luisa Custodio was supported by FCT Investigator Programme (IF/00049/2012). Catarina Guerreiro Pereira and Maria Joao Rodrigues acknowledges FCT for the PhD grants SFRH/BD/94407/2013 and SFRH/BD/116604/2016, respectively.
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- 2019
41. Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility
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Arndt Rolfs, Salem Alawbathani, Muhammad Nadeem Anjum, Aida M. Bertoli-Avella, Catarina Pereira, Peter Bauer, Jordi Perez-Lopez, Irene Rosita Pia Patric, Omid Paknia, Marina Hovakimyan, Huma Arshad Cheema, Christian Beetz, Volha Skrahina, Anjum Saeed, Nadia K. Waheed, Claudia Cozma, Maria Eugenia Rocha, and Najim Ameziane
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0301 basic medicine ,medicine.medical_specialty ,Candidate gene ,lcsh:QH426-470 ,lcsh:Medicine ,030105 genetics & heredity ,Article ,DNA sequencing ,03 medical and health sciences ,Internal medicine ,Genetics research ,Genetics ,medicine ,Molecular Biology ,Exome ,Gene ,Genetics (clinical) ,Genetic testing ,Molecular medicine ,medicine.diagnostic_test ,business.industry ,Medical genetics ,lcsh:R ,lcsh:Genetics ,030104 developmental biology ,Diagnostic program ,Personalized medicine ,business - Abstract
We implemented a collaborative diagnostic program in Lahore (Pakistan) aiming to establish the genetic diagnosis, and to asses diagnostic yield and clinical impact in patients with suspected genetic diseases. Local physicians ascertained pediatric patients who had no previous access to genetic testing. More than 1586 genetic tests were performed in 1019 individuals (349 index cases, 670 relatives). Most frequently performed tests were exome/genome sequencing (ES/GS, 284/78 index cases) and specific gene panels (55 index cases). In 61.3% of the patients (n = 214) a genetic diagnosis was established based on pathogenic and likely pathogenic variants. Diagnostic yield was higher in consanguineous families (60.1 vs. 39.5%). In 27 patients, genetic diagnosis relied on additional biochemical testing, allowing rapid assessment of the functional effect of the variants. Remarkably, the genetic diagnosis had a direct impact on clinical management. Most relevant consequences were therapy related such as initiation of the appropriated treatment in a timely manner in 51.9% of the patients (n = 111). Finally, we report 12 candidate genes among 66 cases with no genetic diagnosis. Importantly, three of these genes were validated as ‘diagnostic’ genes given the strong evidence supporting causality derived from our data repository (CAP2-dilated cardiomyopathy, ITFG2-intellectual disability and USP53-liver cholestasis). The high diagnostic yield, clinical impact, and research findings demonstrate the utility of genomic testing, especially when used as first-line genetic test. For patients with suspected genetic diseases from resource-limited regions, ES can be considered as the test of choice to achieve genetic diagnosis.
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- 2020
42. Sanfilippo Syndrome: The Tale of a Challenging Diagnosis
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Cara O’Neill, Catarina Pereira, João Pedro Bonevechio Sant'Anna, Zumira Aparecida Carneiro, Giulianna Baldini, Charles Marques Lourenço, José Fernando Palmejiani, Roberto Giugliani, and Claudia Cozma
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medicine.medical_specialty ,Medicine (General) ,Language delay ,Endocrinology, Diabetes and Metabolism ,Genetic counseling ,Urinary system ,Sanfilippo syndrome ,Cognitive decline ,Heparan sulfate ,neurological impairment ,Mucopolissacaridose III ,chemistry.chemical_compound ,R5-920 ,Mucopolysaccharidosis III ,Internal medicine ,Medicine ,Mucopolysaccharidosis IIIB ,Genetics (clinical) ,Relatos de casos ,business.industry ,Diagnóstico ,medicine.disease ,cognitive decline ,chemistry ,Pediatrics, Perinatology and Child Health ,Speech delay ,Heparitina sulfato ,heparan sulfate ,medicine.symptom ,business ,Cognição ,Neurological impairment - Abstract
Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. The four types of MPS III are recognized in accordance with the deficient enzyme, resulting in the accumulation of heparan sulfate with particularly deleterious effects in the central nervous system. The incidence of MPS III remains to be established in Latin American countries. We describe the journey of a patient with MPS IIIB whom, even in the presence of speech delay and deterioration, behavioral problems and motor incoordination, showed unaltered urinary glycosaminoglycans (GAGs) levels. An investigation for MPS was undertaken and enzyme analysis indicated a deficiency of alpha-N-acetylglucosaminidase, leading to the diagnosis of MPS IIIB. With the correct diagnosis, the patient’s symptoms could be properly managed, and the parents received appropriate genetic counseling. The present case report reinforces the need of investigating MPS III in patients with language delay and/or regression, neurological impairment and behavioral alterations, even when urinary GAGs are within normal range. A definitive diagnosis ends the diagnostic journey and enables the medical team and family to provide a better care for the child.
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- 2020
43. Chemical profile, antioxidant, antimicrobial, enzyme inhibitory, and cytotoxicity of seven Apiaceae species from Turkey: a comparative study
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József Jekő, Luísa Custódio, Gunes Ak, Mohamad Fawzi Mahomoodally, Carene Marie Nancy Picot-Allain, Mehmet Yavuz Paksoy, Gokhan Zengin, Kouadio Ibrahime Sinan, Jasmina Glamocilja, Maria João Rodrigues, Marina Soković, Zoltán Cziáky, and Catarina Pereira
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0106 biological sciences ,Antioxidant ,food.ingredient ,Cytotoxic ,DPPH ,medicine.medical_treatment ,01 natural sciences ,Bioactive compounds ,Ferulago ,chemistry.chemical_compound ,food ,medicine ,Gallic acid ,Apiaceae ,ABTS ,biology ,Traditional medicine ,010405 organic chemistry ,Chemistry ,Agriculture ,biology.organism_classification ,3. Good health ,0104 chemical sciences ,Antimicrobial ,Trolox ,Kojic acid ,Agronomy and Crop Science ,010606 plant biology & botany - Abstract
Several Apiaceae species, used as both food and in complementary and alternative medicine, represents a rich source of potential valuable phytopharmaceuticals which necessitates scientific contemplation. In the present study, the antioxidant, enzyme inhibitory, antimicrobial, and cytotoxic properties of methanol extracts of seven Apiaceae species, (Chaerophyllum macrospermum (Willd. ex Spreng.) Fisch. & C.A.Mey. ex Hohen, Ferula rigidula Fisch. ex DC., Ferula orientalis L., Prangos ferulacea Lindl., Prangos peucedanifolia Fenzl., Ferulago setifolia K. Koch, and Pimpinella anthriscoides Boiss.) were evaluated. Species belonging to the Prangos genus exhibited the highest total phenolic content, namely P. peucedanifolia and P. ferulacea, with values of 47.90 and 44.44 mg gallic acid equivalent/g extract, respectively. P. peucedanifolia also displayed the highest radical scavenging capacity (81.53 and 102.70 mg Trolox equivalent [TE]/g extract for 2,2-diphenyl-1-picrylhydrazyl (DPPH) and 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid (ABTS), respectively) and reducing power (165.87 and 100.09 mg TE/g extract for cupric reducing antioxidant capacity (CUPRAC) and ferric reducing antioxidant power (FRAP), respectively). C. macrospermum showed the most potent inhibition against Alzheimer's disease related enzymes, namely acetylcholinesterase (4.53 mg galantamine equivalent [GALAE]/g extract) and butyrylcholinesterase (3.22 mg GALAE/g extract). P. ferulacea (131.94 mg kojic acid (KAE) equivalent/g extract) and P. peucedanifolia (4.97 mmol acarbose equivalent (ACAE)/g extract) were potent inhibitors of tyrosinase and a-glucosidase, respectively. In general, studied species were able to reduce cellular viabilities. P. peucedanifolia possessed promising antibacterial potential against Bacillus cereus (Minimum inhibition concentration (MIC): 0.37 mg/mL), L. monocytogenes (MIC: 0.56 mg/mL), P. aeruginosa and Escherichia coli (MIC: 0.27 mg/mL), Salmonella typhimurium and Enterobacter cloacae (MIC: 0.75 mg/mL). F. rigidula showed the highest antifungal effect against Aspergillus ochraceus and Trichoderma viride (MIC: 0.10 mg/mL). The present findings could be the scientific starting point towards the pharmaceutical and/or commercial utilization of these Apiaceae species. Ministry of Education, Science and Technological Development, Republic of Serbia [451-03-68/2020-14/200007] info:eu-repo/semantics/publishedVersion
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- 2020
44. High Levels of Physical Activity May Promote a Reduction in Bone Mineral Density in Peritoneal Dialysis
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Catarina Pereira, Zelinda Charrua, Armando Raimundo, Pablo Tomas-Carus, Nuno Batalha, and Jose A. Parraca
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Male ,Medicine (General) ,medicine.medical_specialty ,Bone density ,medicine.medical_treatment ,Body water ,Renal function ,physical activity ,Article ,Peritoneal dialysis ,R5-920 ,Absorptiometry, Photon ,Internal medicine ,medicine ,Humans ,Exercise ,Bone mineral ,body composition ,business.industry ,Albumin ,bone density ,General Medicine ,Physical activity level ,Endocrinology ,peritoneal dialysis ,Lean body mass ,muscle strength ,Female ,business - Abstract
Background and objectives: Peritoneal dialysis (PD) patients are expected to present lower levels of physical activity, unhealthy changes at the body composition level, and low levels of strength. Firstly, this study aimed to report the sex differences in physical activity, body composition and muscle strength and the relations among these variables. Secondly, we analyze the relationship between physical activity and biochemical parameters. Materials and Methods: Thirty-four patients (13 women and 21 men) participated in this study. Body composition was assessed by bioimpedance and dual-energy X-ray absorptiometry (DXA), and maximum isokinetic unilateral strength, analytical parameters and physical activity levels were evaluated. Results: The men showed higher values for weight, height, lean body mass, bone mineral content, bone mineral density (BMD) and total body water, while women showed higher values for the percentage of fat mass and hydration of lean body mass (p <, 0.05). No differences between the sexes were found in different levels of physical activity, however, males registered significantly higher values for isokinetic strength variables except for knee extensor strength. BMD was positively related to sedentary activity and negatively related to moderate and vigorous activity (r = 0.383 and r = −0.404, respectively). Light physical activity was negatively correlated with albumin (r = −0.393) and total protein (r = −0.410) levels, while moderate/vigorous activity was positively correlated with urea distribution volume (r = 0.446) and creatinine clearance (r = 0.359) and negatively correlated with the triglyceride level (r = −0.455). Conclusions: PD patients with higher levels of physical activity present better results in terms of body composition and biochemical parameters. Additional studies should be conducted to clarify the relation between physical activity level and BMD.
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- 2020
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45. Twelve-week multimodal programs can improve dual-task performance in risk factors for falls in community-dwelling older adults: a pilot study
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Armando Raimundo, Jorge Miguel Bravo, Felismina Rosa Parreira Mendes, Catarina Pereira, and Hugo Rosado
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medicine.medical_specialty ,Physical medicine and rehabilitation ,Get up and go test ,Public Health, Environmental and Occupational Health ,medicine ,DUAL (cognitive architecture) ,Psychology ,Task (project management) ,Fall prevention - Abstract
Introduction Performing a dual-task (DT), mainly while walking and performing another task simultaneously, is seen as determinants factors for falls and injuries in older adults. A psychomotor intervention relying on the prevention of sensorimotor and neurocognitive deterioration may prevent falls. The whole-body vibration (WBV) promotes the increase of agility, reducing the risk of falling. However, an intervention that combines both methods can lead to additional benefits, particularly as regards DT. Objectives To evaluate the feasibility and the effect of two multimodal programs designed for community-dwelling older adults, fallers or at high risk of falling, on DT performance ability. Methodology Thirty-seven participants (74.3±5.2 years) were randomly assigned into experimental group 1 [EG1] (psychomotor intervention); or experimental group 2 [EG2] (psychomotor intervention + WBV). DT performance (TUGcog) was assessed by the Timed Up and Go Test (s) performed simultaneously with the counting backward cognitive task. Results Adherence rate was 86.3%. Wilcoxon test comparisons showed improvements from baseline to post-intervention on EG1 (time (s): 10.1±2.7 vs. 9.0±2.7, p = 0.001; cognitive stops (n): 0.9±1.0 vs. 0.2±0.4, p = 0.012; motor stops (n): 0.3±0.5 vs. 0.0±0.0, p = 0.025), corresponding to an effect size (cohen’s d) ranging from 0.41 (small) to 0.92 (medium) and on EG2 (time (s): 9.9±2.5 vs. 8.5±1.8, p = 0.010; cognitive stops (n): 1.1±0.7 vs. 0.4±0.5, p = 0.004), corresponding to a d ranging from 0.64 (medium) to 1.15 (medium). There were no significant differences between groups. Conclusion These preliminary results suggested that the multimodal programs were feasible and effective in reducing the risk of falling by improving the determinant risk factor DT performance. Trial Registration: ClinicalTrials.gov Identifier: NCT03446352. Funding: This study was funded by ESACA Project (Grant ALT20-03-0145-FEDER-000007) and by FCT (SFRH/BD/147398/2019).
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- 2020
46. Associations of socioeconomic and health related factors with fall risk on community dwelling older adults from Alentejo
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S Picamilho, M. M. Caldas, A Jerônimo, Catarina Pereira, and M Santos
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business.industry ,Environmental health ,Public Health, Environmental and Occupational Health ,Health related ,Medicine ,Fall risk ,business ,Socioeconomic status - Abstract
Introduction With the world, population ageing falls become a problem. Portugal follows this tendency, particularly in Alentejo. Ecological models evidence that biological, behaviour and socioeconomic factors explain falls. However, the role of socioeconomic and health-related factors on the risk of falls is not well known. Objectives To analyse the association of socioeconomic and health-related factors with fall risk on community-dwelling older adults from Alentejo. Methodology This observational study involved 384 community-dwelling older adults (73.6 ± 6.0 years), the minimal sample size calculated by Open Epi Online program, of whom 40.6% fell at least once in the previous year. Sociodemographic characteristics (age, gender, marital status, schooling, retirement age, living alone and yield) and health-related factors (number of health conditions, cognitive state, fat mass %, physical activity, and depression index) were accessed. Results Univariate Regression Logistic showed that gender was the only sociodemographic characteristics which significantly explains falls occurrence, in which to be woman increases the likelihood of falling on 96% (OR: 1.96, p < 0.05). As regard health-related factors, results show that for each additional health condition the likelihood of falling increased 17%, for each additional 1% on fat mass this likelihood increased 4%, and for each additional point on depression index this likelihood increased 15.1% (OR: 1.04 to 1.17, p < 0.05). Conclusion Health-related factors showed to be more preponderant in the occurrence of falls compared to socio-demographic characteristics. Women with more chronic conditions increased fat mass, and high depression index will be the most susceptible to falls. Thus, preventive measures should play particular attention to these persons.
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- 2020
47. Differences between two types of dual tasks according to the educational level in older adults
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Hugo Rosado, Daniel Collado-Mateo, José Marmeleira, Guida Veiga, Pablo Tomas-Carus, and Catarina Pereira
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Aging ,medicine.medical_specialty ,Health (social science) ,030214 geriatrics ,Human factors and ergonomics ,Poison control ,Cognition ,Audiology ,behavioral disciplines and activities ,Suicide prevention ,Occupational safety and health ,Task (project management) ,Test (assessment) ,03 medical and health sciences ,0302 clinical medicine ,Injury prevention ,medicine ,030212 general & internal medicine ,Geriatrics and Gerontology ,Psychology ,Gerontology ,psychological phenomena and processes - Abstract
Introduction For dual-task paradigms, the timed up and go (TUG) test along with other cognitive or motor tasks has been used to evaluate and predict the risk of falling in older adults. However, the interference between motor-cognitive tasks can differ by the cognitive task. Objective To evaluate the performance of the TUG test under a single task condition and two dual-task conditions in older adults and to explore the effect of educational level on task performance. Methods A total of 418 older adults (328 females) voluntarily participated in this study. The TUG test was administered as a single task and a dual task with one secondary simultaneous task: counting aloud backward from 100 or naming animals. Comparisons were performed to determine the interference caused by each cognitive task on the motor task, and correlation analysis was performed to explore the role of educational level. Results The animal task led to a poorer TUG performance and a higher dual-task cost than did the counting task. Furthermore, the motor task led to a higher percentage of errors and cognitive stops in the animal task. Educational level plays a significant role in the interaction between tasks. Conclusions Between-task interference differs by the type of cognitive task performed and the educational level of the participants. The results of the present study should be considered when dual-task assessments are planned for older adults.
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- 2020
48. Risk for physical dependence in community‐dwelling older adults: The role of fear of falling, falls and fall‐related injuries
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Pablo Tomas-Carus, Felismina Rosa Parreira Mendes, Catarina Pereira, Fátima Baptista, Armando Raimundo, and Jorge Bravo
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Male ,Risk ,Gerontology ,Activities of daily living ,Physical fitness ,Poison control ,Fear of falling ,Occupational safety and health ,03 medical and health sciences ,0302 clinical medicine ,Surveys and Questionnaires ,Activities of Daily Living ,Injury prevention ,Humans ,Medicine ,030212 general & internal medicine ,Mobility Limitation ,Geriatric Assessment ,Aged ,Portugal ,030504 nursing ,business.industry ,Human factors and ergonomics ,Fear ,Cross-Sectional Studies ,Physical Fitness ,Body Composition ,Accidental Falls ,Female ,Independent Living ,medicine.symptom ,0305 other medical science ,business ,human activities ,Independent living - Abstract
Background Falls and fall-related injuries along with fear of falling (FoF) seem to restrict activities of daily living (ADL), resulting in physical dependence. However, it is still unclear how falls and related injuries or FoF by themselves explain general and specific ADL dependence. Objectives To investigate the relationships between falls and related injuries, FoF and physical dependence on ADL in community-dwelling older adults, controlling for age, gender, physical activity and physical fitness as confounders. Methods This cross-sectional descriptive study assessed 588 community-dwelling older adults. Falls and fall-related injuries, ADL dependence on basic, instrumental and advanced activities, FoF, demographic characteristics and health conditions were assessed through a questionnaire. Physical activity was measured through the International Physical Activity Questionnaire. Physical fitness was assessed by the Senior Fitness Test and the Fullerton Advanced Balance Scale. Body composition was measured through bioimpedance. Results Severe injuries occurrence increased the likelihood of moderate and high physical dependence by 3 and 6 times, while FoF increased this likelihood by 3 and 7 times, respectively. Also, the occurrence of previous falls, resulting in severe injuries, increased the likelihood of dependence in two instrumental ADL (3 and 4 times), while FoF increased this likelihood in numerous basic, instrumental and advanced ADL (2-3 times). The FoF was shown to explain overall physical functioning dependence, by itself, representing a constraint on the performance of most basic, instrumental and advanced ADL. Conclusion The FoF showed to be a greater threat to ADL dependence than falls and related injuries. Assessment guidelines for older adults living in the community should include the FoF in clinical evaluation. Implications for practice Understand the isolated interplay of FoF and previous falls and injuries on ADL dependence among older adults allows healthcare professionals to perform more accurate clinical evaluations and develop more successful interventions to prevent further dependence.
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- 2020
49. If you cannot beat them, join them: exploring the fruits of the invasive species Carpobrotus edulis (L.) NE Br as a source of bioactive products
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Maria Manuela Gaspar, Maria João Rodrigues, Ahmet Uysal, Chloé Placines, Catarina Pinto Reis, Gokhan Zengin, József Jeko, Luísa Custódio, Zoltán Cziáky, Catarina Pereira, Viana Castañeda-Loaiza, Selçuk Üniversitesi, Fen Fakültesi, Biyoloji Bölümü, and Zengin, Gökhan
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0106 biological sciences ,Azelaic acid ,DPPH ,Coumaric acid ,01 natural sciences ,chemistry.chemical_compound ,Hyperpigmentation ,medicine ,Gallic acid ,Food science ,ABTS ,Invasive species ,010405 organic chemistry ,Salt tolerant plants ,Catechin ,Enzyme inhibitors ,Agriculture ,Hottentot-fig ,0104 chemical sciences ,chemistry ,Oxidative stress ,Quercetin ,Kojic acid ,Agronomy and Crop Science ,010606 plant biology & botany ,medicine.drug - Abstract
WOS: 000510521700008, The halophyte species Carpobrotus edulis (L.) N.E. Br, also known as Hottentot-fig, is one of the 20 most aggressive invasive species of coastal areas worldwide. It is native to South Africa, where it is used in traditional medicine for the treatment of several diseases, including tuberculosis and acquired immunodeficiency syndrome (AIDS) caused by the human immunodeficiency virus (HIV). Aiming at a sustainable use of its biomass as a value-added product, this work reports for the first time the in vitro antioxidant, anti-microbial, enzymatic inhibitory properties and toxicity of peel and flesh extracts of Hottentot-fig mature fruits. The extracts' chemical composition was also determined by spectrophotometric methods (total contents of phenolics: TPC; flavonoids: TFC and tannins: TTC), and by high-performance liquid chromatography coupled with electrospray ionization mass spectrometry (HPLC-ESI-MS/MS). The peels' extracts had generally the highest TPC, TFC and TTC, especially the ethanol ones (TPC: 272.82 mg gallic acid equivalents (GAE)/g dry weight (DW), TFC: 1.58 mg quercetin equivalents (QE)/g DW and TTC: 20.3 mg catechin equivalents (CE)/g DW). The peels' extracts also had the highest diversity of compounds, mostly phenolic acids, flavonoids, and coumarins, as identified by HPLC-ESI-MS/MS. Some molecules were specific to a particular fruit part, for example, coumaric acid and uvaol in the peel, and vanillin and kaempferol-O-(rhamnosyl)hexosylhexoside in the flesh. Some compounds are here described for the first time in Hottentot-fig, such as azelaic acid and emodin. The peel's extracts had the highest anti radical activity, especially the ethanol and acetone towards 2,2-diphenyl-1-picrylhydrazyl (DPPH) (half maximal inhibitory concentration (IC50) values of 0.59 and 0.88 mg/mL, respectively), and the acetone extract against 2,2'-Azino-bis(3-ethylbenzothiazoline-6-sulfonic acid) diammonium salt (ABTS) (IC50 = 0.56 mg/mL). Samples had nil capacity to chelate iron, a low copper chelation potential, but a significant capacity to reduce iron, especially the ethanol (IC50 = 0.09 mg/mL) and the acetone extracts of peels (IC50 = 0.10 mg/mL) and flesh (IC50 = 0.11 mg/mL) and also the water peel's extracts (IC50 = 0.18 mg/mL). Samples had nil to low activity towards the enzymes acetylcholinesterase (AChE), butyrylcholinesterase (BuChE), alpha-amylase and alpha-glucosidase, but displayed a strong inhibition of tyrosinase, especially the ethanol peel's extracts (29.55 mg kojic acid equivalents (KAE)/g). Samples had nil to low in vitro toxicity towards human keratinocytes. All together our results suggests possible novel biotechnological applications of Hottentot-fig fruits as sources of innovative bioactive ingredients for the food, cosmetic, agriculture and/or pharmaceutical industries., Foundation for Science and Technology (FCT)Portuguese Foundation for Science and Technology; Portuguese National Budget [CCMAR/Multi/04326/2019, UID/DTP/04138/2019]; GreenVet project [ALG-01-0145-FEDER-028876]; FCTPortuguese Foundation for Science and Technology [SFRH/BD/116604/2016, CEECIND/00425/2017], Work supported by the Foundation for Science and Technology (FCT) and the Portuguese National Budget (CCMAR/Multi/04326/2019 project), UID/DTP/04138/2019 and GreenVet project (ALG-01-0145-FEDER-028876). Joao Rodrigues acknowledge FCT for the PhD grant SFRH/BD/116604/2016. Luisa Cust6dio was supported by the FCT Scientific Employment Stimulus (CEECIND/00425/2017).
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- 2020
50. Neutral diclofenac causes remarkable changes in phosphatidylcholine bilayers: relevance for gastric toxicity mechanisms
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Cláudia Nunes, Salette Reis, Sarah K. Jamal, João P Almeida, Ana Coutinho, Iolanda M. Cuccovia, Manuel Prieto, and Catarina Pereira-Leite
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0301 basic medicine ,Diclofenac ,Lipid Bilayers ,Phospholipid ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,MUCOSA GÁSTRICA ,X-Ray Diffraction ,Phosphatidylcholine ,Scattering, Small Angle ,Gastric mucosa ,medicine ,Lipid bilayer ,Pharmacology ,Liposome ,Molecular Structure ,Chemistry ,Bilayer ,Anti-Inflammatory Agents, Non-Steroidal ,Hydrogen-Ion Concentration ,stomatognathic diseases ,030104 developmental biology ,medicine.anatomical_structure ,Gastric Mucosa ,Liposomes ,Toxicity ,Biophysics ,Molecular Medicine ,lipids (amino acids, peptides, and proteins) ,Dimyristoylphosphatidylcholine ,030217 neurology & neurosurgery ,medicine.drug - Abstract
The main objective of this study was to clarify the topical mechanisms underlying diclofenac-induced gastric toxicity by considering for the first time both ionization states of this nonsteroidal anti-inflammatory drug. 1,2-Dimyristoyl-sn-glycero-3-phosphocholine (DMPC) liposomes were the model system chosen to mimic the protective phospholipid layers of the gastric mucosa and to describe the interactions with diclofenac, considering the pH gradient found in the gastric mucosa (3 < pH < 7.4). Complementary experimental techniques were combined to evaluate the drug's affinity for DMPC bilayers, as well as to assess the drug's effects on the structural properties of the phospholipid bilayer. The diclofenac-DMPC interactions were clearly dependent on the drug's ionization state. Neutral diclofenac displayed greater affinity for DMPC bilayers than anionic diclofenac. Moreover, the protonated/neutral form of the drug induced more pronounced and/or distinct alterations in the structure of the DMPC bilayer than the deprotonated/ionized form, considering similar membrane concentrations. Therefore, neutral diclofenac-induced changes in the structural properties of the external phospholipid layers of the gastric mucosa may constitute an additional toxicity mechanism of this worldwide-used drug, which shall be considered for the development of safer therapeutic strategies. SIGNIFICANCE STATEMENT: Neutral or anionic diclofenac exerted distinct alterations in phosphatidylcholine bilayers, which are used in this work as models for the protective phospholipid layers of the gastric mucosa. Remarkable changes were induced by neutral diclofenac in the structural properties of the phospholipid bilayer, suggesting that both ionized and neutral states of nonsteroidal anti-inflammatory drugs must be considered to clarify their mechanisms of toxicity and to ultimately develop safer anti-inflammatory drugs.
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- 2020
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