Browsing by Author "Ferreira, A."
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- 47,XY,+del(X)(q21.31)/46,XY mosaicism in prenatal diagnosis - case report of a rare eventPublication . Ferreira, C.; Tarelho, A.; Marques, B.; Serafim, S.; Pedro, S.; Ferreira, A.; Correia, H.OBJECTIVES: Aneuploidies involving the sex chromosomes are the most common anomalies in humans. In many cases these anomalies are present in mosaic and may involve either the whole chromosome or just part of it. These anomalies constitute a challenge in prenatal diagnosis because it is generally very difficult to establish a reliable genotype-phenotype correlation. Here we report a rare event of a mosaic in which one cell line carries an additional abnormal X chromosome, with a terminal deletion at q21.31 region, and a normal XY constitution in the majority of the cells. METHODS: A healthy 36-year-old G1P1 woman was referred for prenatal diagnosis at 11+5 weeks of gestation for increased nuchal translucency. Chorionic villus biopsy was performed and molecular rapid aneuploidy result indicated an anomalous situation for the X chromosome in a male fetus. As the material was not sufficient to establish a culture an amniocentesis was performed at 17+3 weeks and karyotyping and microarray were performed in order to characterize the anomalous result. RESULTS: The results obtained indicated the presence of a mosaic involving an extra X chromosome with a terminal deletion, [47,XY,+del(Xq)/46,XY.arr[GRCh37] Xp22.33q21.31(169921_89283237)x1~2], which is compatible with a Klinefelter syndrome variant. CONCLUSIONS: Pregnancies affected by X chromosome aneuploidies diagnosed prenatally are at an increased risk of adverse fetal and neonatal outcomes. High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The participant shall be able to understand the importance of breakpoints definition and the impact that a mosaicism situation have in prenatal diagnosis.
- Acid mine drainage from the Panasqueira mine and its influence on Zêzere River (Central Portugal)Publication . Candeias, C.; Freire Ávila, P.; Silva, E. F; Ferreira, A.; Salgueiro, A. R.; Teixeira, João PauloThe Panasqueira hydrothermal mineralization, located in central Portugal, is the biggest Sn–W deposit of the Western Europe. The main evidences of the mining exploitation and ore treatment operations are testified with huge tailings, mainly, in the Rio and Barroca Grande areas. The mining and benefi- ciation processes, at the site, produces metal rich mine wastes. Oxidation of sulfides tailings and flow from open impoundments are responsible for the mobilization and migration of metals from the mine wastes into the environment. Acid mine drainage (AMD) discharged from Rio tailing has a pH around 3 and high metal concentrations. In Zêzere river, Fe and As are the most rapidly depleted downstream from AMD once As adsorbs, coprecipitate and form compounds with iron oxyhydroxides. The Zêzere river waters are oversaturated with respect to kaolinite and goethite and ferrihydrite can precipitate on stream with a near-neutral pH. At sites having low pH the dissolved Fe species in the water, mainly, occur as sulfate complexes due to a high SO4 concentration. Melanterite (Fe2+(SO4)7(H2O)) and minor amounts of rozenite (Fe2+(SO4)4(H2O)) and szomolnokite (Fe2+(SO4)(H2O)) were observed on Rio tailing basement.
- ICT-Supported Interventions Targeting Pre-frailty: Healthcare Recommendations from the Personalised ICT Supported Service for Independent Living and Active Ageing (PERSSILAA) StudyPublication . O’Caoimh, R.; Molloy, D.W.; Fitzgerald, C.; Velsen, L.V.; Cabrita, M.; Nassabi, M.H.; Vette, F.; van Weering, M.D.; Jansen-Kosterink, S.; Kenter, W.; Frazer, S.; Rauter, A.P.; Turkman, A.; Antunes, M.; Turkman, F.; Silva, M.S.; Martins, A.; Costa, H.S.; Albuquerque, T.G.; Ferreira, A.; Scherillo, M.; De Luca, V.; Abete, P.; Colao, A.; García-Rudolph, A.; Sanchez-Carrion, R.; Sánchez, J.S.; Aguilera, E.J.G.; Illario, M.; Hermens, H.; Vollenbroek-Hutten, M.As society ages, healthcare systems are preparing for an increasing prevalence of frail, co-morbid and older community-dwellers at risk of adverse outcomes including falls, malnutrition, hospitalisation, institutionalisation and death. Early intervention is desirable and pre-frailty, before onset of functional decline, may represent a suitable transition stage to target, albeit evidence for reversibility and appropriate interventions are limited. No consensus on the definition, diagnosis or management of pre-frailty exists. This work describes 25 healthcare related findings from the recently completed PERsonalised ICT Supported Service for Independent Living and Active Ageing (PERSSILAA) project, funded under the 2013–2016 European Union Framework Programme 7 (grant #610359). PERSSILAA developed a comprehensive Information and Communication Technologies (ICT)-supported platform to screen, assess, intervene and then monitor community-dwellers in two regions (Enschede in the Netherlands and Campania in Italy) in order to address pre-frailty and promote active and healthy ageing, targeting three important pre-frailty subdomains: nutrition, cognition and physical function. Proposed definitions of pre-frailty, ICT-based approaches to screen and monitor for the onset of frailty and targeted management strategies employing technology across these domains are described. The potential of these 25 healthcare recommendations in the development of future European guidelines on the screening and prevention of frailty is explored.
- Mudanças no diagnóstico pré-natal cromossómico: indicações clínicas, amostras biológicas, metodologias e cromossomopatiasPublication . Simão, L.; Silva, M.; Alves, C.; Brito, F.; Serafim, S.; Ambrósio, P.; Geraldes, M.C.; Marques, B.; Ferreira, C.; Pedro, S.; Furtado, J.; Ventura, C.; Tristão, J.; Ferreira, A.; Correia, J.; Correia, H.Introdução: As mudanças no diagnóstico pré-natal de anomalias cromossómicas (DPN) nos últimos 10-15 anos foram contínuas e significativas. Objetivos: Propômo-nos analisar essa evolução: mudanças nas indicações clínicas; introdução das biópsias de vilosidades coriónicas (BVC); utilização do diagnóstico rápido de aneuploidias (DRA); estudos por microarray; alterações cromossómicas encontradas. Metodologia: Fez-se a avaliação retrospetiva nas gestações com amostras estudadas nos triénios 2004-2006 e 2014-2016. Analisaram-se os parâmetros indicação clínica, tipo de amostra, metodologias utilizadas e resultados. Resultados: Identificaram-se 68 fetos com cariotipo anormal em 2210 cariotipos (3,1%) em 2004-2006 e 208 fetos com cariotipo anormal em 2315 cariotipos (9,0%) em 2014-2016. A maior frequência de anomalias encontrou-se nos casos de rastreios ecográficos e combinados indicativos de risco acrescido de anomalia numérica e de progenitores portadores de alterações cromossómicas. As BVC permitiram respostas precoces nas gestações com anomalias numéricas e, adicionalmente, um aumento desses cariotipos (7.5% das amostras). O DRA permitiu ter uma resposta rápida nas anomalias numéricas mais frequentes (2 dias). As anomalias estruturais foram menos preponderantes nos cariotipos anormais (32,4% em 2004-2006 e 14.4% em 2014-2016). Discussão e conclusões: O DRA reduziu o tempo de resposta e das decisões sobre o futuro das gestações. O microarray permitiu identificar alterações sindromáticas em situações não resolúveis por outras metodologias. A utilização de BVC permite estabelecer uma melhor correlação fenotipo-genotipo em menores idades gestacionais. No entanto, as gestações com anomalias numéricas têm algum risco de perda fetal no primeiro e início do segundo trimestres. Assim, algumas BVC com cariotipos anormais resultariam em perdas espontâneas, o que poderia disponibilizar outros casos para DPN. Por outro lado, o menor número de anomalias estruturais equilibradas encontrado pode reduzir o conhecimento da variação genética nas famílias e na população. Um novo paradigma resulta da implementação dos testes não invasivos no DPN, para os quais ainda não conhecemos todas as limitações e repercussões.
- Multiple non contiguous copy gains and a terminal loss in 8q24 identified in a fetus with cleft palate and lipPublication . Serafim, S.; Pedro, S.; Marques, B.; Tarelho, A.R.; Ferreira, C.; Simao, L.; Viegas, M.; Silva, M.; Alves, C.; Mourinha, V.; Ferreira, A.; Correia, H.Objectives: Chromosomal microarray analysis (CMA) is the recommended genetic test in pregnancies with ultrasound abnormalities but in some cases karyotype may still be needed to clarify the underlying mechanism of complex rearrangements. Here we report the case of a fetus from a healthy 24-year-old G1P0 woman, with a low risk for common aneuploidies in the 1st trimester prenatal screening but referred for CMA at 17+6 weeks of gestation due to cleft palate and lip in the 1st trimester ultrasound. Method: After a normal result in the rapid aneuploidy diagnostic test we performed CMA using ThermoFisher Cytoscan™ 750K. Our reporting resolution includes gains and losses larger than 35 Kb, considered clinically relevant for the course of the pregnancy. In this case further tests were done to assess recurrence risk and a possible chromosomal rearrangement: CMA and karyotype on the parents and karyotype on the fetus. Results: The CMA profile revealed a female fetus with three non-contiguous interstitial copy gains and a terminal loss in the long arm of chromosome 8 (8q24), as follows: - x4 copy gain at 8q24.12q24.13 with 585 Kb - x2 copy neutral region with 1.5 Mb - x4 copy gain at 8q24.13 with 2.9 Mb - x2 copy neutral region with 1.2 Mb - x3 copy gain at 8q24.21q24.23 with 17.8 Mb - x1 terminal loss at 8q24.3 with 130 Kb The fetal karyotype showed, in one of the chromosomes 8, an abnormal pattern in the long arm with a larger relative size. After parental studies the reported copy number variants were shown to be de novo. Conclusions. Most of the cases reported in the literature with gains along 8q result from a rearrangement involving another chromosome making it challenging to assess a genotype-phenotype correlation (PMID: 34265769; PMID: 31141803; PMID: 34794751). The few cases of individuals reported with isolated gains in the 8q24 have been described as having different features, depending on the size of the gain, and those may include facial dysmorphysms, clef lip and palate, developmental delay, among others (PMID: 25506438; PMID: 11484205; PMID: 33316910; UNIQUE - rarechromo.org: duplications of 8q). Recently a fetus with multiple congenital abnormalities, including clef palate, was reported having a similar imbalance, and although the parents decided to keep the pregnancy the baby died soon after birth given the extension of the congenital abnormalities (PMID: 30638476). The CMA results in our case explained the clef palate and lip identified in the fetus and, after genetic counseling, the parents opted to terminate the pregnancy. Although the identified non-contiguous gains and the terminal loss may suggest a mechanism of chromothripsis/chromoanagenesis for the arising of this abnormal chromosome 8, no further studies were performed after determining that the parents had a normal result and therefore a low recurrence risk for future pregnancies.
- NUTRIAGEING: combining science, cooking and agriculturePublication . Silva, M.S.; Ferreira, A.; Sousa, L.; Costa, H.S.; Albuquerque, T.G.; Silva, M.A.; Sanches-Silva, A.; Martins, A.; Turkman, A.; Turkman, F.; Antunes, M.; Rauter, A.P.There are three main behavior traits that have been associated with human health status: to be physically active, to be mentally active and to eat well. These are the main topics addressed by PERSSILAA, an European Project focused on the development and validation of a new service model, to screen for and prevent frailty in older adults, integrating nutrition, physical and cognitive function. Nutrition plays an important role all over our life span, especially in older adults. The importance of nutrition education and the impact of consumer misinformation about the benefits of these food choices becomes clear with the recognition that nutritional status influences the rate of physiologic and functional decline with age. Helping people to choose more nutritive food that will contribute to maintain good health, improve their cognitive function, increase their energy levels and prevent their frailty. There are several available websites related to nutrition targeting the older adult population. However, some are not user friendly and eHealth literacy is still seen as a major obstacle to the uptake of ICT technologies in the health sector. The development of an interactive and user-friendly website providing information, advice and simple services focused on the nutritional status of elderly people, was a most needed task. The NUTRIAGEING website has emerged to address this need. It was created to be a major platform for the transfer of scientific knowledge into advice to the general public, integrated in the PERSSILAA platform. It will offer several modules to promote healthier nutrition, to educate the population on how to improve food habits, and on how to grow a vegetable garden. It will be structured around healthy eating, cooking recipes with videos, and vegetable gardens.
- PERSSILAA Project-An Innovative Approach to Nutritional Education for Older AdultsPublication . Martins, A.; Turkman, A.; Ferreira, A.; Turkman, F.; Antunes, M.; Silva, M.S.; Sousa, L.; Costa, H.S.; Albuquerque, T.G.; Sanches-Silva, A.; Vollenbroek-Hutten, M.; Rauter, A.P.Demographic ageing is a global trend and frailty is highly prevalent among older adults, which constitutes a major health problem. PERSSILAA (PERsonalised ICT Supported Service for Independent Living and Active Ageing) is a unique European project that develops and validates a new service model, to screen for and prevent frailty in community dwelling older adults. This multimodal service integrates nutrition, physical and cognitive function and is supported by an interoperable ICT service infrastructure. A multidisciplinary team from 5 countries, The Netherlands, Spain, Italy, Portugal and Ireland, is providing a unique combination of skills to develop remote services for screening, monitoring and training modules aiming to contribute to good health habits on the nutritional, physical and cognitive domains. This communication will give a special focus to the work developed by the Portuguese team in this project, comprising also the design of an interactive nutrition website.
- The new automated daily mortality surveillance system in PortugalPublication . Nogueira, P.J.; Machado, A.; Rodrigues, E.; Nunes, Baltazar; Sousa, L.; Jacinto, M.; Ferreira, A.; Falcão, J.M.; Ferrinho, P.The experience reported in an earlier Eurosurveillance issue on a fast method to evaluate the impact of the 2003 heatwave on mortality in Portugal, generated a daily mortality surveillance system (VDM) that has been operating ever since jointly with the Portuguese Heat Health Watch Warning System. This work describes the VDM system and how it evolved to become an automated system operating year-round, and shows briefly its potential using mortality data from January 2006 to June 2009 collected by the system itself. The new system has important advantages such as: rapid information acquisition, completeness (the entire population is included), lightness (very little information is exchanged, date of death, age, sex, place of death registration). It allows rapid detection of impacts (within five days) and allows a quick preliminary quantification of impacts that usually took several years to be done. These characteristics make this system a powerful tool for public health action. The VDM system also represents an example of inter-institutional cooperation, bringing together organisations from two different ministries, Health and Justice, aiming at improving knowledge about the mortality in the population.