RESUMO
Hereditary breast and ovarian cancer syndrome (HBOC) represents 5â»10% of all patients with breast cancer and is associated with high-risk pathogenic alleles in BRCA1/2 genes, but only for 25% of cases. We aimed to find new pathogenic alleles in a panel of 143 cancer-predisposing genes in 300 Mexican cancer patients with suspicion of HBOC and 27 high-risk patients with a severe family history of cancer, using massive parallel sequencing. We found pathogenic variants in 23 genes, including BRCA1/2. In the group of cancer patients 15% (46/300) had a pathogenic variant; 11% (33/300) harbored variants with unknown clinical significance (VUS) and 74% (221/300) were negative. The high-risk group had 22% (6/27) of patients with pathogenic variants, 4% (1/27) had VUS and 74% (20/27) were negative. The most recurrent mutations were the Mexican founder deletion of exons 9-12 and the variant p.G228fs in BRCA1, each found in 5 of 17 patients with alterations in this gene. Rare VUS with potential impact at the protein level were found in 21 genes. Our results show for the first time in the Mexican population a higher contribution of pathogenic alleles in other susceptibility cancer genes (54%) than in BRCA1/2 (46%), highlighting the high locus heterogeneity of HBOC and the necessity of expanding genetic tests for this disease to include broader gene panels.
RESUMO
Resumen: Hasta 80% de los errores médicos se deben a fallas en factores humanos (mala comunicación, monitoreo inadecuado, fallas de verificación, etc.), por lo que el entrenamiento de los anestesiólogos exige el desarrollo de habilidades no técnicas en anestesiología. Las habilidades no técnicas son las habilidades cognitivas, sociales y personales que complementan las habilidades técnicas, y que contribuyen al desempeño seguro y eficiente de la tarea. En 2004 la Universidad de Aberdeen fue la primera en plantear un modelo para la definición y evaluación de estas habilidades en el ámbito médico. El modelo práctico consta de 15 elementos incluidos en cuatro categorías: manejo de la tarea, trabajo en equipo, conciencia de la situación y toma de decisiones. La herramienta es utilizada por anestesiólogos graduados para evaluar a quienes están en entrenamiento en el quirófano o mediante simulación clínica. La validez de este sistema, así como su importancia en la seguridad del paciente, ha sido demostrada por diferentes estudios.
Abstract: Close to 80% of medical errors are due to human factors (poor communication, inadequate monitoring, failure to check, etc.), which is why training for anaesthetists requires developing essential soft skills for Anaesthesiology. Soft skills are defined as specific cognitive, socio-emotional and interpersonal abilities complementing core skills which contribute to the safe and efficient carrying out of a job-specific task. In 2004, the University of Aberdeen established a first model for defining and evaluating these soft skills. The model consists of 15 elements across four categories: task management, team working, situational awareness and decision-making. The model is a tool employed by postgraduate anaesthesiologists to assess trainees in the operating theatre or through clinical simulation. The validity of this system, as well as its importance for patient safety have been demonstrated in a range of studies.
RESUMO
Resumen La estenosis aórtica supravalvular es una lesión congénita obstructiva del tracto de salida del ventrículo izquierdo. Es la forma menos frecuente dentro de este grupo de lesiones, las cuales, a su vez representan el 6% de las cardiopatías congénitas en pacientes pediátricos. Esta cardiopatía se relaciona más con pacientes pediátricos, sin embargo, presentamos el caso de un paciente masculino de 23 años de edad quien acudió al hospital por haber presentado episodio de disnea súbita en reposo, acompañada de diaforesis, dolor torácico opresivo sin irradiaciones y síncope. Se realizó un ecocardiograma transtorácico con el cual se diagnosticó estenosis aórtica supravalvular.
Abstract Supravalvular aortic stenosis is a left ventricular outflow tract obstructive lesion. It is the least common form of this group of lesions, which only represents 6% of congenital heart disease in children. This condition is commonly diagnosed during childhood; however we present the case of a 23 year old man who was taken to the hospital for having presented a sudden dyspnea episode with diaphoresis, chest pain without radiation and syncope. He was diagnosed with supravalvular aortic stenosis after echocardiography.