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Resumen Objetivo: Diseñar un formato estandarizado de la guía PRAXIS de buena práctica que facilite su publicación como artículo en una revista científica. Metodología: A partir de una guía piloto elaborada con fines académicos, se utilizó una técnica Delphi mediante cuestionario para consensuar con expertos los componentes que deberían reflejarse en el formato de artículo y la adecuación de sus contenidos. Resultados: Se obtuvieron doce elementos básicos agrupados en tres bloques: partes preliminares, cuerpo del artículo y partes finales. Se propone un tamaño de 5.500 palabras, con mayor dedicación a los contenidos aplicados a la práctica. Utilidad esperada: La tecnología de síntesis de conocimiento propuesta en el modelo PRAXIS es sencilla y asumible desde la práctica clínica, empoderando así a los profesionales. La singularidad y ejemplaridad de los casos garantiza la creación de conocimiento y hará posible la realización de metasíntesis cualitativas sobre problemas complejos de salud en entornos de cuidado compartido. Abstract Aim: To design a standardized format of the PRAXIS good practice guideline that facilitates its publication as a article in a scientific journal. Methodology: Based on a pilot guide prepared for academic purposes, Delphi technique was used in conjunction with a questionnaire to support experts' agreement of the components that should be included in the article format and of the adequacy of its contents. Results: Twelve basics elements were obtained and grouped into three blocks: preliminary part, body of the article and final part. The extension of 5,500 words is proposed, with greater dedication on the practical contents. Expected utility: Knowledge synthesis technology achieved by the PRAXIS model is simple and acceptable for clinical practice, empowering health professionals. The uniqueness and illustrative nature of the cases guarantees the generation of knowledge and will make it possible to carry out qualitative meta-synthesis on complex health problems in shared-care settings.

Using a family-based approach with whole exome sequencing (WES) and custom bioinformatics tools we identified a novel mutation (M527L) in the Nuclear Factor of Activated T-Cells 1 gene (NFATc1). This nonsynonymous heterozygous substitution segregates in an autosomal dominant pattern within a family with a young onset Atrial Fibrillation (AF) phenotype. Patient specific inducible pluripotent stem cell derived-cardiomyocytes (iPSC-CM) from a patient carrying this variant showed abbreviated repolarization resulting in a shorter action potential duration compared to iPSC-CM from a healthy sibling control. Unlike familial monogenic AF where the mutation occurs in an ion channel gene, NFATc1 is a transcription factor that influences expression of multiple genes. Using single-cell RNA sequencing on 30 day post-differentiation iPSC-CM, we identified four subpopulations by K-mean clustering (k=4) of single cell transcriptomes and subsequent marker expression. We then performed gene-annotation enrichment analysis of differentially expressed genes specifically in the mutant (MT) and wild-type (WT) cardiomyocyte (CM) populations, detecting several key functional and pathological cardiac pathways affected in response to the NFATc1 mutation. These included Wnt, NF-kappaB and MAPK signaling, Ca homeostasis and gene categories that have been associated with atrial fibrillation. These results suggest that NFATc1 mutation may play an important role in the pathophysiology of familial atrial fibrillation by its broad impact on gene expression and subsequent pathway regulation.

espanolLa frecuencia de las gestaciones en mujeres en tratamiento con hemodialisis esta incrementandose en los ultimos anos. El aumento de fertilidad en estas pacientes se debe a la mejora de la eficacia de la dialisis, junto con el manejo clinico de la insuficiencia renal. Sin embargo, el embarazo de las pacientes hemodializadas sigue siendo un reto, debido a frecuentes complicaciones como la preeclampsia, la prematuridad severa, el polihidramnios, etc. Actualmente, se constata el ascenso de la tasa de supervivencia fetal y la disminucion de la morbi-mortalidad materno-fetal. Presentamos el caso de una gestante en tratamiento con hemodialisis que presenta una amenaza de parto prematuro a la 27+2 semanas de gestacion. Se han formulado diagnosticos enfermeros siguiendo la taxonomia NANDA-NOC-NIC, con la finalidad de visibilizar la necesidad de un adecuado plan de cuidados en estas pacientes EnglishThe frequency of pregnancies in women being treated with hemodialys is increasing in recent years. Increasing fertility in these patients is due to improving the efficiency of dialysis, along with the clinical management of renal failure. However, pregnancy in these patients remains a challenge, due to frequent complication ssuch as preeclampsia, severe prematurity, polyhydramnios, etc. Currently, there is an aument of fetal survival and reduced maternal and fetal morbidity and mortality. This case is about pregnancy in hemodyalisis treatment with threat of premature birth in 27+2 weeks. Nursing diagnoses have been made following the NANDA -NOC -NIC taxonomy, in order to visualize the need for an adequate care plan in these patients.