Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations.

Non-invasive prenatal testing (NIPT) is currently the best screening test for fetal chromosome abnormalities with the highest sensitivity and specificity and can be done from 10 weeks gestation. We report a detection of 44.7 Mb duplication at 11p15.5-p11.2 by NIPT with a fetal fraction (FF) of only 3%. This chromosome abnormality was confirmed after amniocentesis by karyotyping and array comparative genomic hybridization (aCGH) on cultured fetal cells. Further parental investigation showed that the fetal chromosome abnormality was inherited from the mother who was a carrier of a balanced translocation 46,XX,t(11;X)(p11.2;q28). This case highlights the importance of expanded NIPT in the detection of fetal segmental aneuploidy. NIPT together with complementary studies can lead to the detection of parental chromosome rearrangement despite a low FF, which can impact the couple's reproductive plans. We also reviewed other cases with chromosome rearrangement, detected by NIPT, derived from a parental reciprocal translocation.

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Eyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic syndrome with manifestations involving a clinical triad of absence seizures with eyelid myoclonia (EM), photosensitivity (PS), and seizures or electroencephalogram (EEG) paroxysms induced by eye closure. Although a genetic contribution to this syndrome is likely and some genetic alterations have been defined in several cases, the genes responsible for have not been identified. In this review, patients diagnosed with EMA (or EMA-like phenotype) with a genetic diagnosis are summarized. Based on this, four genes could be associated to this syndrome (SYNGAP1, KIA02022/NEXMIF, RORB, and CHD2). Moreover, although there is not enough evidence yet to consider them as candidate for EMA, three more genes present also different alterations in some patients with clinical diagnosis of the disease (SLC2A1, NAA10, and KCNB1). Therefore, a possible relationship of these genes with the disease is discussed in this review.

Índice sintético de enfermería. Instrumento para medir una correcta autogestión / Synthetic Nursing Index. An instrument to measure correct self-management

La mejora continua de la calidad asistencial y de la eficiencia de uso de los recursos sanitarios exige plantearse la necesidad de ofrecer una mayor y mejor calidad partiendo de la base y la realidad tangible con que contamos (tenemos lo que tenemos, y con ello hemos de desarrollar nuestras actividades). Para ofrecer la mayor calidad posible (partimos de la premisa de disminuir los costes de la no calidad: lo que se hace y no aporta valor al usuario, y lo que nos cuesta repetir aquello que no se ha hecho bien a la primera) se ha puesto en marcha el Proyecto de Autogestión Participativa (PAP) que, indirectamente, permitirá optar a conseguir una retribución económica variable según los beneficios obtenidos. Y, como no es ético ni lícito que haya «café para todos», ni que el reparto sea igual para todos, se ha creado una herramienta (Índice Sintético de Enfermería, ISE), que permitirá que cada profesional de enfermería perciba una retribución basada en unos indicadores. Éstos evaluarán si la calidad ofertada y la mejora en costes de no calidad ha obtenido un porcentaje de consecución mayor o menor. El ISE es un indicador global del producto clínico-asistencial generado por el Equipo, resumiendo en un único valor un conjunto de indicadores individuales, facilitando así su interpretación. Gracias al ISE se podrá justificar por qué cada profesional de enfermería no percibe la misma cantidad retributiva variable, reconociendo y premiando de manera individual el trabajo realizado por cada uno de ellos(AU)

Continuous improvement in quality assistance and efficiency of use of the sanitary resources demands professionals to consider the necessity of offering greater and better quality starting from the base and the tangible reality which we can rely upon (we have what we have, and we have to develop our activities based on these). To offer the greatest possible quality (we start off on the premise to diminish costs of non-quality: that which is done but provides no value to users, and what we have difficulty repeating that which was not done properly the first time) the Project for Participative Self-management (PAP) has been started, a project which indirectly will permit opting to get a variable economic compensation according to profits earned. And, since it is not ethical not licit that there be «something for everyone» (café para todos), nor that the distribution be equal for everyone, a tool has been created called the Synthetic Nursing Index (SNI/ISE), which enables each nursing professional to receive compensation based on some indicators. These indicators will evaluate if the quality offered and the improvement in costs of those non-quality items has obtained a greater or lesser consecution percentage. The SNI/ISE is a global clinical-care product indicator generated by «the Team», summarizing in one unique value a set of individual indicators, thereby facilitating its interpretation. Thanks to SNI/ISE, it will be possible to justify why each nursing professional does not receive the same variable compensation quantity, recognizing and rewarding the work performed by each professional in an individual manner(AU)