9 documents found, page 1 of 1
Multiple non contiguous copy gains and a terminal loss in 8q24 identified in a ...
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 a...
Prenatal diagnosis of mosaic ring chromosome 16 - a rare event with uncertain p...
Brito, F.; M. Silv, M.; Alves, C.; Ferreira, C.; Serafim, S.; Simão, L.; Marques, B.; Pedro, S.; Tarelho, A.; Furtado, J.; Lopes, P.; Silva, N.Ring chromosomes are rare cytogenetic findings (prenatal frequency ~ 0.0075%) often associated with an abnormal phenotype, depending of the chromosomal origin, genetic content and the presence of a mosaic. Supernumerary ring chromosome 16 [r(16)] is rarely observed and mosaicism makes the genotype/phenotype correlation difficult. We report a de novo mosaic r(16) detected after prenatal diagnosis in a woman refe...
Using a 3-tier training model for effective exchange of good practices in an ER...
Alves, Gustavo R.; Fidalgo, André; Marques, M.; Viegas, M.; Felgueiras, Carlos; Costa, R.; Lima, N.; Kulesza, W.; Zubia, J.; Castro, M.; Pester, A.VISIR+ is an Erasmus+ project that aims to develop educational modules for electric and electronic circuits theory and practice following an enquiry-based teaching and learning methodology. The project has installed five new VISIR remote labs in Higher Education Institutions located in Argentina and Brazil, to allow students doing more experiments and hence acquire better experimental skills, through a combinat...
Diagnóstico pré-natal tardio de uma gestação com anomalias ecográficas e com du...
Simão, L.; Serafim, S.; Ferreira, C.; Alves, C.; Brito, F.; Silva, M.; Furtado, J.; Viegas, M.; Pedro, S.; Marques, B.; Rodrigues, M.; Sá, J.Introdução: O diagnóstico pré-natal (DPN) atempado de anomalias cromossómicas em fetos com anomalias ecográficas é fundamental no prognóstico da gravidez, ou na sua possível interrupção. Assim, a realização das ecografias fetais nas semanas preconizadas é determinante para a gestão dos casos anormais. Descrevemos um caso de uma gravidez mal vigiada, com ecografia fetal realizada às 29 semanas de gestação, onde ...
Prenatal diagnosis of 7q11.23 duplication in a fetus with renal pelvic dilatati...
Serafim, S.; Ferreira, C.; Simão, L.; Alves, C.; Brito, F.; Silva, M.; Furtado, J.; Viegas, M.; Pedro, S.; Marques, B.; Rodrigues, M.; Sá, J.7q11.23 duplication syndrome is a multisystemic developmental disorder characterized by variable manifestations, such as speech delay, mild craniofacial anomalies with distinctive facial features, and intellectual ability ranging from mental retardation to normal cognitive development. Approximately 30% of individuals with 7q11.23 duplication have one or more congenital anomalies. Penetrance is complete with va...
Interstitial deletion on chromosome 14q in prenatal diagnosis
Simão, L.; Alves, C.; Marques, B.; Pedro, S.; Ferreira, C.; Viegas, M.; Ventura, C.; Furtado, J.; Cruz, J.; Martins, A.; Cohen, A.; Fernandes, R.A limited number of prenatal diagnosis (PND) cases have reported interstitial deletions of the long arm of chromosome 14 involving the 14q31-32 region. Those cases presented cardiac anomalies, urogenital anomalies, congenital diaphragmatic hernia, and mild pyelectasis. We report the PND of a 33-year-old pregnant woman, who underwent chorionic villus sampling at 12 weeks of gestation after a positive combined 1s...
Anemia de Fanconi – Estudo retrospetivo num período 34 anos
Ambrósio, A.P.; Silva, N.; Viegas, M.; Silva, M-C.; Ventura, C.; Correia, H.Introdução: A Anemia de Fanconi (AF) é uma doença rara, com uma frequência estimada de 1 a 5 per 1.000.000 de nascimentos, podendo este valor aumentar se for considerado um grupo étnico com consanguinidade. É uma doença autossómica recessiva, que poderá ter uma transmissão ligada ao cromossoma X. Doentes com AF podem apresentar malformações congénitas, falência da medula óssea (que se carateriza por pancitopéni...
Nitrogen and phosphorus discharge of animal origin in the Baixo Vouga: a spatia...
Clemêncio, C.; Viegas, M.; Nadais, H.The livestock production is a strategic and crucial activity for it fixes populations in rural areas, contributing to its conservation, and most importantly because it ensures food production. By producing meat, milk or eggs, this sector contributes to national food self-sufficiency. However, intensive livestock farming activities carry a strong pollution load on the environment, particularly through the emissi...
Comparative promoter analysis and its application to the identification of cand...
Conceição, N.; Cox, C. J.; Simões, B.; Viegas, M.; Cancela, LeonorChondrocyte gene regulation is important for the generation and maintenance of cartilage tissues. Analysis of the transcriptional regulation of cartilage-specific genes, encoding both collagenous and noncollagenous proteins, provides a useful strategy to identify transcription factors (TFs) that control chondrocyte specification and differentiation. Our work aims at the identification of candidate TFs important...