Higher education institutions and international students’ hindrances: a case of students from the African Portuguese-speaking countries at two European Portuguese universities

We present a study to comprehend if the support given by higher education institution (HEI) to international students coming from the PortugueseSpeaking African Countries meets their academic and social hindrances. Our starting point was a set of semi-structured interviews focused on the perspectives of these students, their Professors and Course Directors as well as on the perspectives of HEI’ staff. Despite findings indicate a positive institutional support, it seems there is still much to do in order to do it properly with these students. These different perspectives will allow us to reflect on the impact that those actions/resources have on the path of students from Portuguese-Speaking African Countries and to systematize suggestions to enhance their experiences in HE.info:eu-repo/semantics/publishedVersio

Immigration, Emigration and Policy Developments in Portugal

Due to the economic crisis, from the beginning of the new century many of Portugal’s former immigrants have moved on to Spain and other European countries, in parallel with the increase in Portuguese emigration. In the context of Southern Europe, Portugal faces a singular situation. Similarly to Spain, Italy and Greece, the country registered a strong immigration in the late 1990s. However, in the early years of the new century immigration has decreased. At the same time, emigration has continued and a new wave of emigrants has left the country, mostly directed towards Spain. As regards government policy, admission and integration have been addressed but emigration has not seriously been looked into

NGS Panels applied to Hereditary Cancer Syndromes

Cancer is among the leading causes of morbidity and mortality worldwide (Okur et al, 2017). Germline pathogenic variants for monogenic, highly penetrant cancer susceptibility genes are observed in 5%–10% of all cancers (Lu et al, 2014). Hereditary cancers due to monogenic causes are characterized by earlier age of onset, other associated cancers, and often a family history of specific cancers. From the clinical perspective, it is important to recognize the affected individuals to provide them the best clinical management (Hennessy et al, 2010; Ledermann et al, 2014; Pennington et al, 2014) and to identify at-risk family members who will benefit from predictive genetic testing and enhanced surveillance, including early detection and/or risk reduction measures (Kurian et al, 2010; Okur et al, 2017). Germline variants identified in major cancer susceptibility genes associated with hereditary breast or ovarian cancer (HBOC) or hereditary colorectal cancer (HCRC), also account for 5-10% of the patients with these cancers. In the last years, new susceptibility genes, with different penetrance degrees, have been identified. Variants in any of those genes are rare and classical methodologies (e.g. Sanger sequencing - SS) are time consuming and expensive. Next-generation sequencing (NGS) has several advantages compared to SS, including the simultaneous analysis of many samples and sequencing of a large set of genes, higher sensitivity (down to 1% vs 15-20% in SS), lower cost and faster turnaround time, reasons that make NGS the best approach for molecular diagnosis. It is possible nowadays to choose between whole-genome sequencing (WGS), whole-exome sequencing (WES) and NGS limited to a set of genes (NGS-Panel). In cases where a suspected genetic disease or condition has been identified, targeted sequencing of specific genes or genomic regions is preferred (Grada et al, 2013). For that reason, we use NGS-Panel approach using TruSight Cancer (Illumina) to sequence DNA extracted from blood samples of patients with personal and/or familiar history of cancer. This hereditary cancer gene panel sequences 94 genes associated with both common (e.g., breast, colorectal) and rare hereditary cancers and allows the creation of virtual gene panels according to each phenotype or disease under study. NGS workflow analysis (Figure 1) includes five steps: quality assessment of raw data, read alignment to a reference genome, variant identification/calling, variant annotation and data visualization (Pabinger et al, 2013). The establishment of the most appropriate bioinformatics pipeline is crucial in order to achieve the best results. NGS data allows the identification of several types of variants like single nucleotide variants (SNVs), small insertions/deletions, inversions and also copy number variants (CNVs).FCT - UID/BIM/0009/2016info:eu-repo/semantics/publishedVersio

O uso de moldes de latex como complemento ao estudo de espécimes paleobotânicos

ABSTRACT: In this paper, we present the history of latex in Paleontology and its role in the field today. We discuss the methodology and advantages of latex fossil moulds, while also presenting examples of moulds of compressions/impressions of plant fossils. Latex rubber has been used to create moulds of fossils since the first half of the 20th century and it is still used in various branches of Paleontology. While the methods have stayed largely unchanged, some innovations have been introduced. We also discuss the virtues of large-scale adoption of latex in the study of paleobotanical compressions/impressions, a technique not widely used in that branch, but in which latex can provide better visualization of certain key diagnostic characters for identification. Furthermore, widespread use of latex would increase the amount of viable fossils for study.RESUMO: Neste trabalho, apresentamos a história dos moldes de latex em Paleontologia e o seu uso no ramo. Também discutimos a metodologia e as vantagens de moldes de fósseis em latex. Os moldes de látex em fósseis são usados desde a primeira metade do século XIX e continuam a ser usados até hoje. A metodologia sofreu poucas alterações mas algumas inovações foram introduzidas. Também discutimos as vantagens do uso generalizado desta técnica no estudo de compressões paleobotânicas. Este método é útil no estudo de espécimes mal preservados em Paleobotânica e Paleontologia, dado que o látex permite uma melhor visualização ou destaque de certos caracteres diagnósticos importantes para identificação. O uso generalizado desta técnica aumentaria a quantidade de fósseis viáveis para estudo.info:eu-repo/semantics/publishedVersio

Encapsulação de cafeína e diclofnac em carvão activado e MOF ZIF-8

Neste trabalho desenvolveu-se uma metodologia experimental que utiliza uma técnica de cromatografia frontal num sistema HPLC, com o intuito de medir isotérmicas de adsorção da cafeína e do diclofnac (este conhecido como Voltaren), permitindo medir o grau de encapsulação e a eficiência da libertação controlada. Serão testados dois tipos materiais porosos: o MOF ZIF -8, e o carvão ativado Norit SX PLUS como potencias sistemas de encapsulação e libertação controlada

Presumed TP53 mosaicism: variants detected using a NGS hereditary cancer multigene panel

Aims/Context: NGS multigene panels are routinely used to identify germline pathogenic variants in cancer susceptibility genes. In addition, NGS allows the identification of low-level mosaicism events that may not be detectable by conventional Sanger sequencing. We describe two cases of presumed TP53 mosaic variants detected by NGS on blood-derived DNA, and confirmed by ARMS-PCR and Sanger sequencing. Case 1: female, 87 years old, colon cancer at 83 and metachronous breast cancer at 86, no history of familial cancer. Case 2: female, 75 years old, ovarian cancer at 71, local relapse at 74. Methods: NGS using TruSight® Cancer Sequencing Panel and TruSight® Rapid Capture kit (Illumina) and paired-end sequencing on MiSeq® platform (Illumina). Bioinformatic analysis with MiSeq Reporter, Enrichment, VariantStudio, VEP, Alamut Visual, VarAFT, VarSome and IGV. ARMS-PCR and Sanger sequencing were used to confirm the TP53 variants. Results and Conclusions: Two cases of presumed TP53 mosaic variants were studied. Case 1: the missense alteration TP53: c.764T>G, p.(Ile255Ser) was detected with a variant allele frequency (VAF) of 26% (39/150 reads). This variant is described in ClinVar as a somatic alteration, classified as likely pathogenic. It is not reported in gnomAD and VarSome software classified it as a variant of uncertain significance. Case 2: missense variant TP53: c.524G>A, p.(Arg175His) detected with a VAF of 15% (10/58 reads). This variant is described as pathogenic in HGMD Professional, LOVD and ClinVar, in association with Li-Fraumeni syndrome. These two cases seem to represent TP53 mosaicism, supported by: i) VAF lower than 30%, ii) detection at the sensitivity limit of Sanger sequencing and iii) confirmation by ARMS-PCR. Confirming this hypothesis by studying tumor and other tissue samples and offspring analysis (underway in both cases), is essential for disease diagnosis, assessing recurrence risk and genetic counseling. The hypothesis of acquired aberrant clonal expansion limited to the hematologic compartment, versus a germline variant should be considered in similar cases, and confirmatory methodologies are mandatory.info:eu-repo/semantics/publishedVersio