Avaluació de la formació inicial dels mestres de música de la UAB en l’àmbit de la direcció musical

En aquest treball analitzem el procés de formació dels mestres de música de la UAB en l’àmbit de la direcció musical i avaluem si allò que han après els serveix per donar resposta a les necessitats que tindran com a professionals de l’educació. Igualment deixem les portes obertes a possibles estudis en altres universitats.

Frequency of Fabry disease in male and female haemodialysis patients in Spain

BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme alpha-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females. However, heterozygous females usually present a milder phenotype with a later onset and a slower progression. METHODS: A combined enzymatic and genetic strategy was used, measuring the activity of alpha-galactosidase A and genotyping the alpha-galactosidase A gene (GLA) in dried blood samples (DBS) of 911 patients undergoing haemodialysis in centers across Spain. RESULTS: GLA alterations were found in seven unrelated patients (4 males and 3 females). Two novel mutations (p.Gly346AlafsX347 and p.Val199GlyfsX203) were identified as well as a previously described mutation, R118C. The R118C mutation was present in 60% of unrelated patients with GLA causal mutations. The D313Y alteration, considered by some authors as a pseudo-deficiency allele, was also found in two out of seven patients. CONCLUSIONS: Excluding the controversial D313Y alteration, FD presents a frequency of one in 182 individuals (0.55%) within this population of males and females undergoing haemodialysis. Moreover, our findings suggest that a number of patients with unexplained and atypical symptoms of renal disease may have FD. Screening programmes for FD in populations of individuals presenting severe kidney dysfunction, cardiac alterations or cerebrovascular disease may lead to the diagnosis of FD in those patients, the study of their families and eventually the implementation of a specific therapy.

Factors associated with use of community mental health services by schizophrenia patients using multilevel analysis

BACKGROUND Persons with schizophrenia and related disorders may be particularly sensitive to a number of determinants of service use, including those related with illness, socio-demographic characteristics and organizational factors. The objective of this study is to identify factors associated with outpatient contacts at community mental health services of patients with schizophrenia or related disorders. METHODS This cross-sectional study analyzed 1097 patients. The main outcome measure was the total number of outpatient consultations during one year. Independent variables were related to socio-demographic, clinical and use of service factors. Data were collected from clinical records. RESULTS The multilevel linear regression model explained 46.35% of the variance. Patients with significantly more contacts with ambulatory services were not working and were receiving welfare benefits (p = 0.02), had no formal education (p = 0.02), had a global level of severity of two or three (four being the most severe) (p < 0.001), with one or more inpatient admissions (p < 0.001), and in contact with both types of professional (nurses and psychiatrists) (p < 0.001). The patients with the fewest ambulatory contacts were those with diagnoses of persistent delusional disorders (p = 0.04) and those who were attended by four of the 13 psychiatrists (p < 0.001). CONCLUSIONS As expected, the variables that explained the use of community service could be viewed as proxies for severity of illness. The most surprising finding, however, was that a group of four psychiatrists was also independently associated with use of ambulatory services by patients with schizophrenia or related disorders. More research is needed to carefully examine how professional support networks interact to affect use of mental health.

Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies.

BACKGROUND Differences in the distribution of genotypes between individuals of the same ethnicity are an important confounder factor commonly undervalued in typical association studies conducted in radiogenomics. OBJECTIVE To evaluate the genotypic distribution of SNPs in a wide set of Spanish prostate cancer patients for determine the homogeneity of the population and to disclose potential bias. DESIGN SETTING AND PARTICIPANTS A total of 601 prostate cancer patients from Andalusia, Basque Country, Canary and Catalonia were genotyped for 10 SNPs located in 6 different genes associated to DNA repair: XRCC1 (rs25487, rs25489, rs1799782), ERCC2 (rs13181), ERCC1 (rs11615), LIG4 (rs1805388, rs1805386), ATM (rs17503908, rs1800057) and P53 (rs1042522). The SNP genotyping was made in a Biotrove OpenArray® NT Cycler. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS Comparisons of genotypic and allelic frequencies among populations, as well as haplotype analyses were determined using the web-based environment SNPator. Principal component analysis was made using the SnpMatrix and XSnpMatrix classes and methods implemented as an R package. Non-supervised hierarchical cluster of SNP was made using MultiExperiment Viewer. RESULTS AND LIMITATIONS We observed that genotype distribution of 4 out 10 SNPs was statistically different among the studied populations, showing the greatest differences between Andalusia and Catalonia. These observations were confirmed in cluster analysis, principal component analysis and in the differential distribution of haplotypes among the populations. Because tumor characteristics have not been taken into account, it is possible that some polymorphisms may influence tumor characteristics in the same way that it may pose a risk factor for other disease characteristics. CONCLUSION Differences in distribution of genotypes within different populations of the same ethnicity could be an important confounding factor responsible for the lack of validation of SNPs associated with radiation-induced toxicity, especially when extensive meta-analysis with subjects from different countries are carried out.

Salvage radiosurgery for selected patients with recurrent malignant gliomas.

Purpose. To analyse the survival after salvage radiosurgery and to identify prognostic factors. Methods. We retrospectively reviewed 87 consecutive patients, with recurrent high-grade glioma, that underwent stereotactic radiosurgery between 1997 and 2010. We evaluated the survival after initial diagnosis and after reirradiation. The prognostic factors were analysed by bivariate and multivariate Cox regression model. Results. The median age was 48 years old. The primary histology included anaplastic astrocytoma (47%) and glioblastoma (53%). A margin dose of 18 Gy was administered in the majority of cases (74%). The median survival after initial diagnosis was 21 months (39 months for anaplastic astrocytoma and 18.5 months for glioblastoma) and after reirradiation it was 10 months (17 months for anaplastic astrocytoma and 7.5 months for glioblastoma). In the bivariate analyses, the prognostic factors significantly associated with survival after reirradiation were age, tumour and treatment volume at recurrence, recursive partitioning analyses classification, Karnofsky performance score, histology, and margin to the planning target volume. Only the last four showed significant association in the multivariate analyses. Conclusion. stereotactic radiosurgery is a safe and may be an effective treatment option for selected patients diagnosed with recurrent high-grade glioma. The identified prognostic factors could help individualise the treatment.

Insucesso escolar na disciplina de física do 10º ano de escolaridade, nos liceus Pedro Gomes e Domingos Ramos

O presente trabalho cientifico, “Insucesso Escolar na disciplina de Física do 10º ano de escolaridade, nos liceus Pedro Gomes e Domingos Ramos”, não é fruto do acaso, mas sim, representa um esforço no sentido de trabalhar em prol de uma área disciplinar que sempre me fascinou, e por ser uma área de ensino caracterizado por grandes dificuldades por parte dos alunos e professores tanto a nível do ensino secundário como do ensino superior. O ensino secundário cabo-verdiano foi alvo de uma reforma profunda na década de noventa do século passado, onde houve novos planos de estudos e programas para as diversas cadeiras, nomeadamente a da Física; o ensino secundário via geral está estruturado em três ciclos diferentes; o 1º ciclo constituído pelo7º e 8º anos, o 2º ciclo constituído pelo 9º e 10º anos e 3º ciclo que alberga o 11º e 12º anos. No 10º ano de escolaridade começa o ensino da Física propriamente dito, com 3 horas semanais, assente em três grandes pilares de conteúdos: movimento, força e energia (Ministério de Educação Ciência e Cultura, 1997). Após completar o 2º ciclo, o aluno que escolher a área Ciência e Tecnologia pode optar por estudar Física ou Química ou ambas no 3º ciclo. Neste trabalho faço uma abordagem geral sobre o insucesso escolar versando a sua compreensão, causas e consequências, bem como uma abordagem do insucesso escolar, particularmente, na disciplina de Física do 10º ano de escolaridade. Através de um inquérito dirigido aos professores e alunos de Física do 10º ano do ensino secundário, procurei identificar as principais causas do insucesso escolar na disciplina de Física, verificar as principais dificuldades do processo de ensino e aprendizagem da Física no 10º ano de escolaridade, deixar algumas sugestões que possam contribuir para diminuir o insucesso escolar na disciplina de Física do 10º ano de escolaridade. Este trabalho assenta-se em duas hipóteses. A primeira: “O nível de pré-requisitos essenciais constitui uma das causas do insucesso escolar na disciplina de Física do 10º ano de escolaridade?”. A segunda: “A deficiente formação/qualificação dos professores constitui factores de insucesso escolar na disciplina de Física no 10º ano de escolaridade”. Este trabalho de fim de curso está estruturado em três capítulos, conclusões, constrangimentos, sugestões e anexos. No primeiro capítulo, Fundamentação Teórica, onde exponho a base teórica deste trabalho, referindo-se ao insucesso escolar de uma forma geral, falando um pouco da sua compreensão, causas, consequências, bem como, do ensino e aprendizagem da Física; no segundo capítulo, vem a Metodologia, onde caracterizo os métodos, as técnicas e os recursos utilizados para realização deste trabalho; no terceiro e último capítulo – Apresentação dos dados e discussão dos resultados; recolha, tratamento dos dados, análise e interpretação dos resultados.

Partamona nigrilabris Pedro & Camargo, 2003, um novo sinônimo de P. nigrior (Cockerell, 1925) (Hymenoptera, Apidae)

P. nigrilabris was described based on specimens wrongly labelled as from "Salvador-BA, Brasil". It is considered as a new synonym: Partamona nigrior (Cockerell, 1925) = P. nigrilabris Pedro & Camargo, 2003, syn. nov.