135 research outputs found
The Seminary of Treguier in the Seventeenth Century
The Congregation directed the seminary of Tréguier in Brittany from its beginning. The seminary was chiefly concerned with the proper formation of the local clergy, although it also gave numerous retreats and missions. The details of the seminary’s establishment, finances, demographics, community life, and accomplishments are reported as far as is possible from the records that remain. The seminary’s many difficulties are recounted, which make its successes all the more remarkable
Functional Characterization of the Frost Gene in Drosophila melanogaster: Importance for Recovery from Chill Coma
BACKGROUND: Almost all animals, including insects, need to adapt to temperature fluctuations. The molecular basis of thermal adaptation is not well understood, although a number of candidate genes have been proposed. However, a functional link between candidate genes and thermal tolerance has rarely been established. The gene Frost (Fst) was first discovered when Drosophila flies were exposed to cold stress, but the biological function(s) of Fst has so far not been characterized. Because Fst is up-regulated after a cold stress, we tested whether it was essential for chill-coma recovery. METHODOLOGY/PRINCIPAL FINDINGS: A marked increase in Fst expression was detected (by RT-PCR) during recovery from cold stress, peaking at 42-fold after 2 h. The GAL4/UAS system was used to knock down expression of Fst and recovery ability was assessed in transgenic adults following 12 h of chill coma at 0 degrees C. The ability to recover from cold stress (short-, medium- and long-term) was significantly altered in the transgenic adults that had Fst silenced. These findings show that Fst plays an essential role in the recovery from chill coma in both males and females. CONCLUSIONS/SIGNIFICANCE: The Frost gene is essential for cold tolerance in Drosophila melanogaster and may play an important role in thermal adaptation
Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy : external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) causes ventricular arrhythmias (VAs) and sudden cardiac death (SCD). In 2019, a risk prediction model that estimates the 5-year risk of incident VAs in ARVC was developed (ARVCrisk.com). This study aimed to externally validate this prediction model in a large international multicentre cohort and to compare its performance with the risk factor approach recommended for implantable cardioverter-defibrillator (ICD) use by published guidelines and expert consensus. Methods and results: In a retrospective cohort of 429 individuals from 29 centres in North America and Europe, 103 (24%) experienced sustained VA during a median follow-up of 5.02 (2.05-7.90) years following diagnosis of ARVC. External validation yielded good discrimination [C-index of 0.70 (95% confidence interval-CI 0.65-0.75)] and calibration slope of 1.01 (95% CI 0.99-1.03). Compared with the three published consensus-based decision algorithms for ICD use in ARVC (Heart Rhythm Society consensus on arrhythmogenic cardiomyopathy, International Task Force consensus statement on the treatment of ARVC, and American Heart Association guidelines for VA and SCD), the risk calculator performed better with a superior net clinical benefit below risk threshold of 35%. Conclusion: Using a large independent cohort of patients, this study shows that the ARVC risk model provides good prognostic information and outperforms other published decision algorithms for ICD use. These findings support the use of the model to facilitate shared decision making regarding ICD implantation in the primary prevention of SCD in ARVC
Nos embates com a morte, os médicos não estão sozinhos
Diferentes pesquisas já identificaram dificuldades, entre médicos, de lidar com o morrer humano, mas tais dificuldades estariam associadas a formas mais amplas e coletivas de lidar com o tema. O presente estudo buscou explorar tal perspectiva investigando grupos fora do âmbito dos profissionais da saúde. Dois grupos, cariocas e mineiros, foram entrevistados sobre suas visões e atitudes em relação ao tema morte. Todos na faixa etária 50-60 anos, com nível superior de escolaridade e padrão socioeconômico e cultural semelhantes e sem atuação em áreas relacionadas à saúde. A pesquisa foi de natureza exploratória e a metodologia de análise foi a do discurso do sujeito coletivo - (DSC) que se baseia na teoria da representação social. Os resultados sugeriram diferenças locais e de gênero. Os mineiros incluíram laços familiares e de amizade como elementos da qualidade de vida. Entre as mulheres (cariocas e mineiras) houve referências frequentes a elementos familiares como pai, mãe, avó e tia. No conjunto, cariocas e mineiros expressaram um padrão geral: preferem não pensar na morte, escolhem pensar na qualidade de vida para envelhecer bem. Ainda que o falar sobre a velhice traga relevantes reflexões, a dificuldade do falar sobre a morte revelou-se também nesse deslocamento. Se os médicos se veem hoje tateando caminhos para lidar com os limites da biomedicina, também os investigados encontram-se envolvidos com o uso de tais recursos no enfrentamento da morte. Uns e outros estão às voltas com as angústias que o tema favorece.Different works have identified doctors' difficulty in dealing with human death, but such difficulties would be associated with broader and more collective forms of handling this theme. This research aimed at exploring this perspective and investigated professionals who were not in the health area. Two groups, from the Brazilian States of Rio de Janeiro and Minas Gerais, were interviewed on their views and attitudes concerning the theme. All the interviewees were aged between 50 and 60 years, had similar socioeconomic, cultural and educational background (university degree) and none of them had worked in the health field. The research had an exploratory nature and used the Collective Subject Discourse - CSD, which is based on the theory of social representation, for the methodological analysis. The results indicated both local and gender differences. The group from Minas Gerais included family and friendship ties as elements of quality of life. Among women (from both States) there were frequent references to family elements such as father, mother, grandmother and aunt. On the whole, both groups expressed a general pattern: they prefer not to think about death, and they would rather think about quality of life in order to age well. Even though talking about aging brings in relevant reflections, the difficulty in talking about death was also revealed in this displacement. Both doctors and the investigated professionals are facing the anguish that is favored by the theme
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings
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