Variants in BRCA1/2 in a hospital-based cohort in Chile and national literature review.

Purpose: The aim was to assess the diagnostic yield of next generation sequencing (NGS) multi-gene panels for breast and ovarian cancer in a high-complexity cancer centre in Chile. Additionally, our goal was to broaden the genotypic spectrum of BRCA variants already identified in Chilean families. Methods: Retrospective analysis was conducted on the genetic test results of 722 individuals from Fundación Arturo López Pérez's genetic counselling unit between 2016 and 2021. A comprehensive literature review encompassing articles analysing the frequency of germinal pathogenic variants in BRCA1/2 within the Chilean population was undertaken. Results: 23.5% of the panels had positive results, with 60% due to pathogenic variants in the BRCA1/2 genes. Seven previously unreported variants in BRCA1 from Chilean studies were identified.One or more variants of uncertain significance were detected in 31% of the results, and 11.5% of the families in this cohort presented copy number variants (CNVs) in BRCA1/2.8 studies analysed the frequency of pathogenic variants in BRCA1/2 in the Chilean population between 2006 and 2023, with a frequency between 7.1% and 17.1%.51 BRCA1 variants in 149 families have been reported in Chile and 38 BRCA2 variants in 132 families. Nine founder pathogenic variants identified by one study were present in 51.9% of the total Chilean families reported. Conclusion: Our findings advocate for the integration of NGS multi-gene panel testing as a primary strategy within our population. This approach allows for the comprehensive assessment of single nucleotide variants and CNVs in BRCA1/2, alongside other high and moderately penetrant genes associated with breast and ovarian cancer.

Bioética en el uso del deporte en políticas públicas promotoras de salud / Bioethics related to the use of sports in public health promoting policies

RESUMEN La Organización Mundial de la Salud reconoce que aproximadamente 3,2 millones de personas mueren a causa del sedentarismo cada año. A partir de este diagnóstico, se propone a los países adscritos a la OMS que construyan Políticas Públicas que promuevan una vida sana, saludable y activa en la población, con el fin de transformar la salud de las personas. En este escenario, el deporte y la actividad física han sido las actividades que por excelencia se han promovido para lograr este objetivo. En este ensayo, se reflexiona sobre el rol del deporte y la actividad física como herramientas promotoras de salud y se revisa esto desde la promoción individual del cuidado de la salud. Asimismo, se concluye expresando que, para la inclusión del deporte en las Políticas Públicas, es necesario incluir una perspectiva bioética.(AU)

ABSTRACT The World Health Organization states that approximately 3.2 million people die as a consequence of a sedentary lifestyle every year. Based on this diagnosis, the member countries of the WHO have proposed the creation of public policies that promote a healthy and active lifestyle among the population, in order to transform their health. In this context, sports and physical activity become the main tool to achieve this goal. This essay will assess the role of sports and physical activity as health promotion tools from the perspective of individual health care promotion. Furthermore, this paper concludes that it is necessary to include a bioethical perspective in the use of sports in public policies.(AU)

[Bioethics related to the use of sports in public health promoting policies]. / Bioética en el uso del deporte en políticas públicas promotoras de salud.

The World Health Organization states that approximately 3.2 million people die as a consequence of a sedentary lifestyle every year. Based on this diagnosis, the member countries of the WHO have proposed the creation of public policies that promote a healthy and active lifestyle among the population, in order to transform their health. In this context, sports and physical activity become the main tool to achieve this goal. This essay will assess the role of sports and physical activity as health promotion tools from the perspective of individual health care promotion. Furthermore, this paper concludes that it is necessary to include a bioethical perspective in the use of sports in public policies.

La Organización Mundial de la Salud reconoce que aproximadamente 3,2 millones de personas mueren a causa del sedentarismo cada año. A partir de este diagnóstico, se propone a los países adscritos a la OMS que construyan Políticas Públicas que promuevan una vida sana, saludable y activa en la población, con el fin de transformar la salud de las personas. En este escenario, el deporte y la actividad física han sido las actividades que por excelencia se han promovido para lograr este objetivo. En este ensayo, se reflexiona sobre el rol del deporte y la actividad física como herramientas promotoras de salud y se revisa esto desde la promoción individual del cuidado de la salud. Asimismo, se concluye expresando que, para la inclusión del deporte en las Políticas Públicas, es necesario incluir una perspectiva bioética.

Attending to the heart is associated with posterior alpha band increase and a reduction in sensitivity to concurrent visual stimuli.

Attentional mechanisms have been studied mostly in specific sensory domains, such as auditory, visuospatial, or tactile modalities. In contrast, attention to internal interoceptive visceral targets has only recently begun to be studied, despite its potential importance in emotion, empathy, and self-awareness. Here, we studied the effects of shifting attention to the heart using a cue-target detection paradigm during continuous EEG recordings. Subjects were instructed to count either a series of visual stimuli (visual condition) or their own heartbeats (heart condition). Visual checkerboard stimuli were used as attentional probes throughout the task. Consistent with previous findings, attention modulated the amplitude of the heartbeat-evoked potentials. Directing attention to the heart significantly reduced the visual P1/N1 amplitude evoked by the attentional probe. ERPs locked to the attention-directing cue revealed a novel frontal positivity around 300 ms postcue. Finally, spectral power in the alpha band over parieto-occipital regions was higher while attending to the heart-when compared to the visual task-and correlated with subject's performance in the interoceptive task. These results are consistent with a shared, resource-based attentional mechanism whereby allocating attention to bodily signals can affect early responses to visual stimuli.