Aplicação do estudo de polimorfismos do cromossoma Y em genética forense : Y-STRS e marcadores bialélicos

Dissertação de Mestrado em Medicina Legal apresentada ao Instituto de Ciências Biomédicas de Abel Salazar da Universidade do Port

The importance of phonological awareness in learning disabilities' prevention: perspectives of pre-school and primary teachers

There is robust empirical evidence regarding predictors of success in reading and writing. However, pre-school and primary teachers are not always aware of this evidence and often do not know how to apply it in practice. Considering the importance of the role of these teachers and the importance of early school years in preventing learning difficulties, it is essential to study teachers' attitudes, knowledge, and strategies for improving educational processes toward successful development of literacy skills. Particularly, recognizing the impact of phonological awareness on the development of reading skills, this study has two main research questions: What is the importance pre-school and primary teachers attribute to the promotion of phonological awareness? and Which strategies for promoting phonological awareness do they apply in their professional practice? This qualitative study includes individual interviews with 10 pre-school and primary teachers, seeking to understand the perspective of each participant about phonological awareness, its importance, and implementation in practice. Data were collected in a context of great adversity (e.g., child maltreatment, early life stress). The results reveal that both pre-school and primary teachers recognized the relevance of phonological awareness among other pre-academic skills. Regarding the activities teachers implement, in their perspective, the playfulness seems to better result to stimulate this specific skill. Preschool teachers tend to focus on the dynamics that promote syllabic, intrasyllabic and phonemic awareness. Despite recognizing the gaps in phonological awareness in the first graders, primary teachers seem not to prioritize activities that stimulate and consolidate this skill, privileging the fluency and comprehension processes. The collaborative work between professionals was highlighted as very important to optimize the stimulation phonological awareness as well as facing other learning difficulties teachers find in this context. The results are discussed considering the role of pre-school teachers and primary teachers in reading difficulties' prevention in contexts facing multiple vulnerabilities.info:eu-repo/semantics/publishedVersio

Efeito do regime de aleitamento sobre a duração do período de anestro pós-parto em cabras da raça Serrana – ecótipo Transmontano – paridas no outono

Este trabalho foi desenvolvido com o objectivo de estudar o efeito da aplicação de dois regimes diferentes de aleitamento (amamentação vs. amamentação “nocturna” + ordenha) sobre a duração do período anovulatório pós-parto, em cabras da raça Serrana, ecótipo Transmontano, paridas no final do Outono. A retoma da actividade sexual pós-parto não variou significativamente em função do regime de aleitamento empregue

Microsatellites’ mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study

The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) organized a collaborative study on mutations of Y-chromosomal short tandem repeats (Y-STRs). New data from 2225 father-son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker-specific mutation rates were estimated for 33 Y-STRs. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.info:eu-repo/semantics/publishedVersio

Streptococcus pyogenes Causing Skin and Soft Tissue Infections Are Enriched in the Recently Emerged emm89 Clade 3 and Are Not Associated With Abrogation of CovRS

Although skin and soft tissue infections (SSTI) are the most common focal infections associated with invasive disease caused by Streptococcus pyogenes (Lancefield Group A streptococci - GAS), there is scarce information on the characteristics of isolates recovered from SSTI in temperate-climate regions. In this study, 320 GAS isolated from SSTI in Portugal were characterized by multiple typing methods and tested for antimicrobial susceptibility and SpeB activity. The covRS and ropB genes of isolates with no detectable SpeB activity were sequenced. The antimicrobial susceptibility profile was similar to that of previously characterized isolates from invasive infections (iGAS), presenting a decreasing trend in macrolide resistance. However, the clonal composition of SSTI between 2005 and 2009 was significantly different from that of contemporary iGAS. Overall, iGAS were associated with emm1 and emm3, while SSTI were associated with emm89, the dominant emm type among SSTI (19%). Within emm89, SSTI were only significantly associated with isolates lacking the hasABC locus, suggesting that the recently emerged emm89 clade 3 may have an increased potential to cause SSTI. Reflecting these associations between emm type and disease presentation, there were also differences in the distribution of emm clusters, sequence types, and superantigen gene profiles between SSTI and iGAS. According to the predicted ability of each emm cluster to interact with host proteins, iGAS were associated with the ability to bind fibrinogen and albumin, whereas SSTI isolates were associated with the ability to bind C4BP, IgA, and IgG. SpeB activity was absent in 79 isolates (25%), in line with the proportion previously observed among iGAS. Null covS and ropB alleles (predicted to eliminate protein function) were detected in 10 (3%) and 12 (4%) isolates, corresponding to an underrepresentation of mutations impairing CovRS function in SSTI relative to iGAS. Overall, these results indicate that the isolates responsible for SSTI are genetically distinct from those recovered from normally sterile sites, supporting a role for mutations impairing CovRS activity specifically in invasive infection and suggesting that this role relies on a differential regulation of other virulence factors besides SpeB

Streptococcus canis Are a Single Population Infecting Multiple Animal Hosts Despite the Diversity of the Universally Present M-Like Protein SCM

Streptococcus canis is an animal pathogen which occasionally causes infections in humans. The S. canis M-like protein (SCM) encoded by the scm gene, is its best characterized virulence factor but previous studies suggested it could be absent in a substantial fraction of isolates. We studied the distribution and variability of the scm gene in 188 S. canis isolates recovered from companion animals (n = 152), wild animal species (n = 20), and humans (n = 14). Multilocus sequence typing, including the first characterization of wildlife isolates, showed that the same lineages are present in all animal hosts, raising the possibility of extensive circulation between species. Whole-genome analysis revealed that emm-like genes found previously in S. canis correspond to divergent scm genes, indicating that what was previously believed to correspond to two genes is in fact the same scm locus. We designed primers allowing for the first time the successful amplification of the scm gene in all isolates. Analysis of the scm sequences identified 12 distinct types, which could be divided into two clusters: group I (76%, n = 142) and group II (24%, n = 46) sharing little sequence similarity. The predicted group I SCM showed extensive similarity with each other outside of the N-terminal hypervariable region and a conserved IgG binding domain. This domain was absent from group II SCM variants found in isolates previously thought to lack the scm gene, which also showed greater amino acid variability. Further studies are necessary to elucidate the possible host interacting partners of the group II SCM variants and their role in virulence

Genetic Data of 11 Y-Chromosome STRs in Males from a North of Portugal Population

Data show that the haplotype is highly polymorphic and discriminative in the North of Portugal population.info:eu-repo/semantics/publishedVersio