Heterogeneity and clinical significance of ETV1 translocations in human prostate cancer

A fluorescence in situ hybridisation (FISH) assay has been used to screen for ETV1 gene rearrangements in a cohort of 429 prostate cancers from patients who had been diagnosed by trans-urethral resection of the prostate. The presence of ETV1 gene alterations (found in 23 cases, 5.4%) was correlated with higher Gleason Score (P=0.001), PSA level at diagnosis (P=<0.0001) and clinical stage (P=0.017) but was not linked to poorer survival. We found that the six previously characterised translocation partners of ETV1 only accounted for 34% of ETV1 re-arrangements (eight out of 23) in this series, with fusion to the androgen-repressed gene C15orf21 representing the commonest event (four out of 23). In 5'-RACE experiments on RNA extracted from formalin-fixed tissue we identified the androgen-upregulated gene ACSL3 as a new 5'-translocation partner of ETV1. These studies report a novel fusion partner for ETV1 and highlight the considerable heterogeneity of ETV1 gene rearrangements in human prostate cancer.

Shortened Lung Clearance Index is a repeatable and sensitive test in children and adults with cystic fibrosis

Background: Lung clearance index (LCI) derived from sulfur hexafluoride (SF6) multiple breath washout (MBW) is a sensitive measure of lung disease in people with cystic fibrosis (CF). However, it can be time-consuming, limiting its use clinically. Aim: To compare the repeatability, sensitivity and test duration of LCI derived from washout to 1/30th (LCI1/30), 1/20th (LCI1/20) and 1/10th (LCI1/10) to ‘standard’ LCI derived from washout to 1/40th initial concentration (LCI1/40). Methods: Triplicate MBW test results from 30 clinically stable people with CF and 30 healthy controls were analysed retrospectively. MBW tests were performed using 0.2% SF6 and a modified Innocor device. All LCI end points were calculated using SimpleWashout software. Repeatability was assessed using coefficient of variation (CV%). The proportion of people with CF with and without abnormal LCI and forced expiratory volume in 1 s (FEV1) % predicted was compared. Receiver operating characteristic (ROC) curve statistics were calculated. Test duration of all LCI end points was compared using paired t tests. Results: In people with CF, LCI1/40 CV% (p=0.16), LCI1/30 CV%, (p=0.53), LCI1/20 CV% (p=0.14) and LCI1/10 CV% (p=0.25) was not significantly different to controls. The sensitivity of LCI1/40, LCI1/30 and LCI1/20 to the presence of CF was equal (67%). The sensitivity of LCI1/10 and FEV1% predicted was lower (53% and 47% respectively). Area under the ROC curve (95% CI) for LCI1/40, LCI1/30, LCI1/20, LCI1/10 and FEV1% predicted was 0.89 (0.80 to 0.97), 0.87 (0.77 to 0.96), 0.87 (0.78 to 0.96), 0.83 (0.72 to 0.94) and 0.73 (0.60 to 0.86), respectively. Test duration of LCI1/30, LCI1/20 and LCI1/10 was significantly shorter compared with the test duration of LCI1/40 in people with CF (p<0.0001) equating to a 5%, 9% and 15% time saving, respectively. Conclusions: In this study, LCI1/20 was a repeatable and sensitive measure with equal diagnostic performance to LCI1/40. LCI1/20 was shorter, potentially offering a more feasible research and clinical measure.

Survival of patients with skin melanoma in Europe increases further: Results of the EUROCARE-5 study

Background In Europe skin melanoma (SM) survival has increased over time. The aims were to evaluate recent trends and differences between countries and regions of Europe.

Methods Relative survival (RS) estimates and geographical comparisons were based on 241,485 patients aged 15 years and over with a diagnosis of invasive SM in Europe (2000-2007). Survival time trends during 1999-2007 were estimated using the period approach, for 213,101 patients. Age, gender, sub-sites and morphology subgroups were considered. 

Results In European patients, estimated 5-year RS was 83% (95% confidence interval, CI 83-84%). The highest values were found for patients resident in Northern (88%; 87-88%) and Central (88%; 87-88%) Europe, followed by Ireland and United Kingdom (UK) (86%; 85-86%) and Southern Europe (83%; 82-83%). The lowest survival was in Eastern Europe (74%; 74-75%). Within regions the intercountry absolute difference in percentage points of RS varied from 4% (North) to 34% (East). RS decreased markedly with patients' age and was higher in women than men. Differences according to SM morphology and skin sub-sites also emerged. Survival has slightly increased from 1999 to 2007, with a small improvement in Northern and the most pronounced improvement in Eastern Europe. 

Discussion SM survival is high and still increasing in European patients. The gap between Northern and Southern and especially Eastern European countries, although still present, diminished over time. Differences in stage distribution at diagnosis may explain most of the geographical differences. However, part of the improvement in survival may be attributed to overdiagnosis from early diagnosis practices.

Microbiological Profile of Aggressive Periodontitis in a Sudanese Population

Background: Several bacterial species have been identified as being associated with aggressive periodontitis (AgP) notably Aggregatibacter actinomycetemcomitans (Aa) and Porphyromonas gingivalis (Pg). There are limited data on bacterial associations with AgP in African populations. Objective: To investigate possible associations between specific bacteria and AgP in a Sudanese population. Methods: Subgingival plaque samples were collected from 93 (20 male, 73 female) Sudanese patients diagnosed with AgP and from 72 (23 male, 48 female) periodontally healthy Sudanese controls. Quantitative PCR was used to identify Aa, Pg, Treponema denticola (Td) and Fusobacterium nucleatum (Fn). The prevalence of these bacterial species was compared using Chi-square analysis. Odds ratios (OR) were calculated using standard methods. Results: The cases with AgP were well matched in age with the controls: 24.8 (SD 5.1) compared with 23.5 (SD 3.7) years, p=0.07. There was a significantly higher prevalence of Pg in AgP (73%) than in the controls (33%), p<0.0001. The OR for Pg to be associated with AgP was 5.44 (95% confidence intervals 2.78-10.64). In 26 (38%) of the AgP cases positive for Pg there were low levels of this bacterium (<100 copies). Both Td and Fn were identified in virtually all (>95%) the plaque samples studied from both AgP and controls. Aa was the least frequently identified species and was present in only 28% of AgP and 18% of controls, p=0.14. The OR for Aa to be associated with AgP was slightly increased at 1.76 (95% CI 0.83-3.74), however, this was not significant (p=0.14). Conclusion: In the Sudanese subjects studied Pg but not Aa was associated with AgP. There were very low levels of Pg in many of the plaque samples from AgP.

Oral Bisphosphonate Exposure and the Risk of Upper Gastrointestinal Cancers

The association between oral bisphosphonate use and upper gastrointestinal cancer has been controversial. Therefore, we examined the association with esophageal and gastric cancer within the Kaiser Permanente, Northern California population. A total of 1,011 cases of esophageal (squamous cell carcinoma and adenocarcinoma) and 1,923 cases of gastric adenocarcinoma (cardia, non-cardia and other) diagnosed between 1997 and 2011 from the Kaiser Permanente, Northern California cancer registry were matched to 49,886 and 93,747 controls, respectively. Oral bisphosphonate prescription fills at least one year prior to the index date were extracted. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals (95% CI) for the associations between prospectively evaluated oral bisphosphonate use with incident esophageal and gastric cancer diagnoses with adjustment for potential confounders. After adjustment for potential confounders, no significant associations were found for esophageal squamous cell carcinoma (OR 0.88; 95% CI: 0.51, 1.52), esophageal adenocarcinoma (OR 0.68; 95% CI: 0.37, 1.24), or gastric non-cardia adenocarcinoma (OR 0.83, 95% CI: 0.59, 1.18), but we observed an adverse association with gastric cardia adenocarcinoma (OR 1.64; 95% CI: 1.07, 2.50). In conclusion, we observed no association between oral bisphosphonate use and esophageal cancer risk within a large community-based population. A significant association was detected with gastric cardia and other adenocarcinoma risk, although this needs to be replicated.

Assessing the combined effect of land management and wildfire on runoff and soil erosion in north central Portugal

Strong and sometimes extreme responses in runoff and soil erosion following wildfires have been reported worldwide. However, in the case of North-Central Portugal, little research had been carried out regarding the hydrologic and erosive impacts of several land management activities in recently burnt areas (such as ground preparation, post-fire logging or post-fire mitigation treatments). This study aims to assess post-fire runoff and soil erosion response on Eucalypt and Maritime pine plantations during the first, second and third years following wildfires. The effect of several pre-fire ground preparation operations (ploughed down-slope, contour ploughed and inclined terraces), post-fire logging activities (on both the eucalypt and pine plantations), as well as the application of hydromulch (a post-fire emergency treatment) on overland flow and soil erosion were compared to burnt but undisturbed and untreated areas. The intensive monitoring of runoff, soil erosion and selected soil properties served to determine the main factors involved in post-fire runoff and soil erosion and their spatial and temporal variation. Soil water repellency deserved special attention, due to its supposed important role for overland flow generation. Repeated rainfall simulation experiments (RSE’s), micro-scale runoff plots and bounded sediment fences were carried out and/or installed immediately after the wildfire on seven burnt slopes. Micro-scale runoff plots results under natural rainfall conditions were also compared to the RSE’s results, which was useful for assessing the representativeness of the data obtained with artificial rainfall. The results showed comparable runoff coefficient (20-60%) but lower sediment losses (125-1000 g m-2) than prior studies in Portugal, but especially outside Portugal. Lower sediment losses were related with the historic intensive land use in the area. In evaluating these losses, however, the shallowness and stoniness of the soils, as well as the high organic matter fraction of the eroded sediments (50%) must not be overlooked. Sediment limited erosion was measured in all the ploughed sites, probably due to the time since ploughing (several years). The disturbance of the soil surface cover due to post-fire logging and wood extraction substantially increased sediment losses at both the pine and eucalypt sites. Hydromulch effectiveness in reducing the runoff (70%) and sediment losses (83%) was attributed to the protective high coverage provided by hydromulch. The hydromulch significantly affected the soil cover and other soil properties and these changes also reduced the soil erosion risk. The rainfall amount was the main factor explaining the variance in runoff. However, a shift from rainfall amount to rainfall intensity was detected when either the surface cover or the infiltration capacity (hydrophilic conditions) increased. Sediment losses were controlled by rainfall intensity and surface cover. The role of soil water repellency on runoff generation was not consistent; the overall repellency levels alone were not enough to assess its hydrological impact. Soil water repellency explained runoff generation in the specific-sites model better than in the overall model. Additionally, soil moisture content was a better predictor for soil water repellency than antecedent rainfall. The natural rainfall results confirmed that RSE’s were able to capture the specific sediment losses and its organic matter content as well as the differences between the ploughed and unploughed sites. Repeated RSE’s also captured the seasonal variations in runoff and sediment losses attributed to soil water repellency. These results have implications for post-fire soil erosion modelling and soil conservation practices in the region, or areas with the same land use, climate and soil characteristics. The measured sediment loss, as well as the increasing frequency of ploughing in recently burnt and unburnt eucalypt stands, suggests ploughing is not an effective as a soil conservation measure. Logging activities with less impact are recommended in order to maintain the forest litter protecting the soil surface. Due to its high effectiveness in reducing runoff and soil erosion, hydromulch is recommended for highly sensitive and vulnerable areas.

Spirituality and Basketball Fanship: An Interpretative Phenomenological Analysis and Synthesis

The world of competitive sport affords an individual the opportunity to enter a spiritual community adding meaning that transcends one’s current understanding of life (Parry et al. 2007). Previously established dimensions of sports fanship (group affiliation, psychological commitment and team identification) share characteristics commonly associated with religious or spiritual affiliation indicating that fans may generate substantial life meaning from observing sporting encounters. In the present study, 12 male basketball fans (M=32.42; SD=7.97) completed semi-structured interviews immediately prior to viewing a competitive match at the 2011 European Basketball Championships (Vilnius, Lithuania). Interviews were structured under four headings; 1) the most memorable moment as a basketball fan, 2) thoughts, feelings and emotions attached to their team, 3) affiliation to the team in the context of the fan’s meaning of life, 4) connection with members of the fan’s sporting community. Interpretative Phenomenological Analysis was employed to analyse interview transcripts. Raw data clustered into four dimensions; 1) devotion, 2) obscure emotions, 3) connectedness, and 4) universal values. The results indicate that sports fanship is characterised by, and synonymous with, an established understanding of spirituality derived from membership of wider spiritual and/or religious communities. The findings hold implications for the marketing and membership of local, amateur and professional sports clubs and brands, as well as community development, health and welfare.

Interpretation of pictograms by 3rd grade pupils: the teacher’s role

In this paper we analyze how a primary school teacher (João) leads the discussion of a task in a grade 3 class aimed at reading and interpreting pictograms. The paper is part of a larger study that follows an interpretative and qualitative research methodology with a case study design. The results indicate that, in his teaching practice, the teacher strives to ask questions so that his pupils are not limited to the identification of categories of high and low frequency characteristic, that is, "reading the data", but also raises questions related to "reading between the data" and "beyond the data."

A solidão nos idosos em função da rede de suporte social, no concelho de Vila do Bispo

Dissertação de mestrado, Gerontologia Social, Escola Superior de Educação e Comunicação, Escola Superior de Saúde, Universidade do Algarve, 2015

Biology and ecology of the white prawn Palaemon longirostris H. Milne Edwards, 1837 (Crustacea, Decapoda, Palaemonidae) in the Mira River, Portugal

Tese de doutoramento, Biologia (Ecografia), Universidade de Lisboa, Faculdade de Ciências, 2014

Alienation and Digital Labour – a Depth-Hermeneutic Inquiry into Online Commodification and the Unconscious

At the core of this paper is a psychosocial inquiry into the Marxist concept of alienation and its applications to the field of digital labour. Following a brief review of different theoretical works on alienation, it looks into its recent conceptualisations and applications to the study of online social networking sites. Finally, the authors offer suggestions on how to extend and render more complex these recent approaches through in-depth analyses of Facebook posts that exemplify how alienation is experienced, articulated, and expressed online. For this perspective, the article draws on Rahel Jaeggi’s (2005) reassessment of alienation, as well as the depth-hermeneutic method of “scenic understanding” developed by Alfred Lorenzer (e.g. 1970; 1986).

Um percurso na construção de uma educação inclusiva

Em 1978, quando iniciei a minha carreira profissional, Ana Maria Bénard da Costa era Chefe da Divisão da Educação Especial (DEE) e dirigia o conjunto das Equipas de Educação Especial que, de norte a sul do país, enquadravam os profissionais (educadores, professores, terapeutas e psicólogos) que apoiavam a integração de alunos com Necessidades Educativas Especiais em escolas e turmas do ensino regular. Espírito vivo e entusiasta, sempre batalhou por oferecer a esses profissionais da educação as melhores condições de trabalho possíveis e, muito importante, formação e informação actualizadas e inovadoras. Nesta entrevista, Ana Maria fala-nos dos valores em que sempre acreditou, das pessoas que a inspiraram e soube chamar para a ajudarem, e nos ajudarem, e nos princípios essenciais da inclusão com uma actualidade e frescura notáveis. Uma Senhora que sabe guardar a capacidade para se apaixonar! Um exemplo para mim, com certeza para muitos mais que tiveram o privilégio de com ela se cruzar e trabalhar. Esta entrevista teve lugar em Julho de 2014. Integralmente gravada e transcrita, deu origem a um texto que foi, ao longo de vários meses, reescrito e revisto pelos dois, entrevistador e entrevistada, até se chegar ao texto final que de seguida se apresenta.

Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients

OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.

Avaliação de necessidades das pessoas idosas em Medicina Geral e Familiar: um estudo de exequibilidade

RESUMO: Os médicos de família devem participar na detecção precoce dos factores de risco que favorecem o declínio funcional nas pessoas idosas. A avaliação estruturada das suas necessidades poderá contribuir para identificar os problemas de saúde que traduzam deterioração funcional. O objectivo deste trabalho foi avaliar a exequibilidade da implementação de um processo de avaliação de necessidades de cuidados em saúde das pessoas idosas na consulta de MGF.Seleccionou-se uma amostra não aleatória de pacientes com 65 ou mais anos de idade, na consulta médica de uma Unidade de Saúde Familiar da região de Lisboa. A avaliação de necessidades foi realizada, pelos médicos, com cinco itens da entrevista Camberwell Assessment of Need for the Elderly (CANE-5). Avaliou-se a percepção dos médicos e dos pacientes sobre este processo de avaliação de necessidades mediante um questionário escrito e entrevistas individuais, respectivamente. Identificaram-se necessidades em 38 (75%) dos 51 pacientes avaliados. Do total das 83 necessidades identificadas, 17 não estavam cobertas. O sofrimento psicológico foi a necessidade não coberta mais frequente. A comparação das avaliações do médico com as do paciente mostrou concordância razoável ou boa nas cinco áreas avaliadas. Esta avaliação foi bem aceite e considerada útil na perspectiva dos médicos e dos pacientes. A principal dificuldade identificada pelos médicos foi o tempo despendido na avaliação face à duração da consulta. Este estudo aponta para a exequibilidade da utilização da entrevista CANE-5 na prática clínica de MGF. No entanto, será importante alargar este estudo a amostras de maior dimensão e avaliar a utilidade da entrevista em intervenções sobre a funcionalidade dos pacientes idosos.----------ABSTRACT: General practitioners (GP) should participate in the early detection of risk factors for fuctional disability in elderly people. Structured needs assessments may contribute to a better identification of health problems that are linked to functional decline. The aim of this study was to assess the feasibility of a structured assessment of needs in the elderly, in the context of opportunistic screening in primary care. A convenience sample was selected of patients aged 65 years and over with scheduled appointments in one general practice in the Lisbon region. The assessment of needs was done by their GPs, using five items of the Camberwell Assessment of Need for the Elderly (CANE-5). Perceptions of GPs and patients about this process of needs assessment were ev+aluated by means of a written questionnaire and individual interviews, respectively. Needs were identified in 38 (75%) of 51 patients. Seventeen unmet needs were identified, out of a total number of 83 needs. Psychological distress was the most frequent unmet need. GP’s and patients’ assessments showed moderate or good agreement in all five areas. This needs’ assessment process was well accepted and considered useful by both GPs and patients. The main difficulty, according to the views of GPs, was the time consumed in this process, given the length of consultation. This study suggests the feasibility of using the CANE-5 interview in clinical practice in primary care settings. However it is important to replicate this study in larger samples and to evaluate the usefulness of the interview regarding interventions related to functionality in elderly patients.