Satisfaction of parents with universal neonatal hearing screening in Castilla-León (Spain)

[ES] Introducción y objetivos: Medir el beneplácito que produce un programa de cribado auditivo neonatal es un importante indicador de su efectividad. Con este estudio pretendemos conocer la satisfacción que manifiestan los padres de los niños a los que se ha realizado la prueba de cribado auditivo al nacimiento, en la Comunidad de Castilla y León (España), siguiendo el Programa establecido desde hace 10 años. Para ello, aplicaremos un cuestionario ya existente en nuestro idioma. Métodos: Participaron 467 familias, procedentes de 12 de los 14 hospitales de nuestra Comunidad. Resultados: Más del 90% de los encuestados se mostraron satisfechos con el desarrollo del Programa de cribado. Discusión: Es difícil obtener un cuestionario objetivo y fiable que valore el concepto multidimensional de la satisfacción, por lo que es fundamental incluir preguntas abiertas donde los participantes puedan expresar sus opiniones y sugerencias. Conclusión: En general, los padres están satisfechos con los servicios que reciben en relación al cribado auditivo neonatal en los diferentes hospitales de la Comunidad de Castilla y León. Además, este estudio nos ha permitido identificar defectos en el programa e introducir mejoras en el mismo. [EN] Introduction and objectives: Measuring parent satisfaction with neonatal hearing screening is an important indicator of the effectiveness of the program. The aim of this study was to investigate the degree of parent satisfaction with the "Screening Hearing Universal Program" in the Castilla and León Community (Spain), manifest for 10 years, through the application of a questionnaire already existing in our language. Methods: Participated 467 families, from 12 of the 14 hospitals of our Community. Results: Overall, more than 90% of parents were satisfied with the completion of the screening Program. Discussion: It is difficult to get an objective and reliable questionnaire that values the multidimensional concept of satisfaction, so it is essential to include open-ended items where participants can express their opinions and suggestions. Conclusions: In general, parents reported being satisfied with the neonatal hearing screening services in the hospitals of the Castilla and León Community. Additionally, this study has demonstrated to be useful in identifying possibilities for improvement

Neonatal hearing screening our experience and future approaches.

[ES] Introducción: El screening auditivo neonatal universal es una forma de identificar a los recién nacidos con problemas auditivos, con una prevalencia de 1 a 3 por cada 1.000 nacidos vivos. La detección e intervención temprana es fundamental para prevenir las consecuencias negativas en el habla, el lenguaje y el desarrollo cognitivo. Método: En este artículo se describe un programa de cribado auditivo universal, institucional desarrollado en la Comunidad Autónoma, Castilla y León. También se analizan los nuevos factores de riesgo. Resultados: Exponemos la contribución de las asociaciones familiares (ARANSBUR) y una encuesta (sondeo) de satisfacción con el programa. [EN] Introduction: Universal newborn hearing screening is a way to identify hearing-impaired newborns, with a reported prevalence of 1 to 3 per 1000 live births. Early detection and intervention is critical to prevent the adverse consequences of a delayed diagnosis on speech, language and cognitive development. Method: This article describes an institutional universal hearing screening program developed in Autonomus Community, Castilla y Leon . Results: It also discusses the new insights risk factors. We expose the contribution of family associations (ARANSBUR ) and a survey ( poll) of satisfaction with the program

Variedades locales de maíz de Cantabria

136 Pags., con Figs., Tabls., Fots., Fichas.En las últimas décadas está desapareciendo gran parte de la biodiversidad agrícola mundial generada a lo largo de la historia de la agricultura. Esta pérdida de recursos fitogenéticos está relacionada principalmente con la sustitución masiva de multitud de variedades tradicionales por variedades comerciales genéticamente uniformes y con la progresiva unificación de hábitos culturales y alimenticios de la población mundial. Este proceso conocido como erosión genética, merma peligrosamente el patrimonio disponible para la selección natural y para la selección dirigida por parte de agricultores y técnicos. A su vez, esta tendencia genera un aumento de la vulnerabilidad de los cultivos agrícolas actuales, a los cambios ambientales y a la aparición de nuevas plagas y enfermedades.En este contexto, la conservación de los recursos fitogenéticos locales está permitiendo la recuperación del cultivo de especies o variedades tradicionales que vuelven a ser valoradas en la actualidad (por ejemplo en sistemas de agricultura ecológica) o que podrían serlo en el futuro ante un cambio ideológico en las prioridades productivas. Así mismo, esta conservación puede favorecer la seguridad alimentaria frente a la aparición de nuevas plagas o enfermedades o frente a cambios en las condiciones ambientales, a la vez que aumenta la disponibilidad de los recursos necesarios en el futuro para la mejora genética de los cultivos. No hay que olvidar que estos recursos fitogenéticos locales forman parte de nuestro patrimonio sociocultural y pueden ser importantes para el desarrollo sostenible de las generaciones venideras.En Cantabria, las condiciones climáticas y orográficas han permitido la existencia de un importante patrimonio relacionado con los recursos fitogenéticos, tanto dentro de las especies silvestres como de las variedades agrícolas tradicionales. Aunque una buena parte de esta diversidad ya se ha perdido, los inventarios nacionales del Centro de Recursos Fitogenéticos (CRF-INIA), accesibles vía Internet (http://wwwx.inia.es/webcrf/), conservan registradas 812 entradas prospectadas en Cantabria. Buena parte de ellas, en concreto 379 entradas, pertenecen al género Zea, es decir, el maíz, lo que nos da una idea de la implantación y diversidad del cultivo en la región en el pasado. Parte de estas entradas, en concreto 72, prospectadas en distintas localidades de Cantabria en las décadas de los sesenta, setenta y ochenta del siglo pasado, y cultivadas en el Centro de Investigación y Formación Agrarias (CIFA) de Muriedas en el año 2010, son las que se presentan en esta publicación, acompañadas de una descripción morfológica y fotografías actuales, como muestra del patrimonio genético agrícola de nuestra región, con el objetivo final de ampliar su conocimiento y puesta en valor.Este trabajo se ha realizado en el marco del proyecto regional del Gobierno de Cantabria “Caracterización de variedades locales de maiz de Cantabria” y del proyecto RF2010-00004-C04-01, financiado por el INIA, Programa Nacional de Recursos y Tecnología Agroalimentarias.Peer reviewe

Medidas de propiedades dieléctricas de materiales de construcción mediante elipsometría

A set of measurements of electromagnetic properties of building materials is presented in this work. The method is based on the measurement of the polarization state of the reflected signal from the material under study at a fixed angle of incidence. From the measured data, by using the Fresnel equations, it has been obtained the dielectric constant. Measurements were done by using two horn antennas at the frequency of 9 GHz. The obtained results are compared with the free space reflexion and transmission Fresnel method and other reflection methods based on a conductor waveguide. The method explained in this work can be used for other type of materials and its main advantage is the non-destructive character and the ease implementation

Is it easy to take care of coordinating a "Children's Program of Hearing Loss"?

Introduction and objective: Hearing loss is the most prevalent sensory deficiency at birth. Even though, coordinating a program for early detection and care may seem simple tasks, they are not so when it takes responsibility for the negative impact that a delay in the identification or treatment, can cause in the linguistic and educational development of the child. With this review, we provide an overview of the commitment involved in the practice of this task. Method: We analyze functions assigned to the supervisor of a "Children's Program of Hearing Loss", which are set in the program of the Community of Castilla y León, that are a reflection of other communities and countries, because they belong to an international consensus backed by different regulatory organisms, which in Spain corresponds to the Commission for the Early Detection of Hearing Loss (CODEPEH). Results: The coordinator of a "Children's Program of Hearing Loss" should monitor the early identification of the new born with hearing impairment, ensure early diagnosis and treatment, ask for specific tests and assess the success of the intervention. This process focuses on the family as a key driver of the project. The institutional and administrative support should be at the service of this activity. Conclusions: Take over a "Children's Program of Hearing Loss" implies a global conception, which consists of establishing a preventive control of hearing health of the child, that increases the complexity of their development.Introducción y objetivo: La hipoacusia es la deficiencia sensorial más prevalente al nacimiento. Aunque coordinar un programa para su detección y atención tempranas pueden parecer tareas sencillas, no lo son tanto cuando se asume la responsabilidad del impacto negativo que un retraso en la identificación o en el tratamiento, pueden provocar en el desarrollo lingüístico y educativo del niño/a. Con este trabajo de revisión, pretendemos ofrecer una visión global del compromiso que supone la práctica de este cometido. Método: Se repasan las funciones asignadas al supervisor de un «Programa de Hipoacusia Infantil», analizando las que se establecen en el Programa de la Comunidad de Castilla y León, que son fiel reflejo de las de otras comunidades y países, al tratarse de un consenso internacional avalado por diferentes organismos reguladores, que en España corresponde a la Comisión para la Detección Precoz de la Hipoacusia (CODEPEH). Resultados: El coordinador de un «Programa de Hipoacusia Infantil» debe vigilar la identificación temprana de los recién nacidos con deficiencia auditiva, realizar un diagnóstico y tratamiento precoces, solicitar pruebas específicas y valorar el éxito de la intervención. Todo este proceso se centra en la familia como motor fundamental del proyecto. El apoyo institucional y administrativo tendría que estar al servicio de esta actividad. Conclusiones: Encargarse actualmente de un «Programa de Hipoacusia Infantil» implica una concepción global, que consiste en establecer un control preventivo de la salud auditiva del niño/a, incrementándose la complejidad de su desarrollo

A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

[Background]: Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment of the pathogenicity of novel variants. [Objectives]: To characterize the clinical and laboratory phenotype, and identifying the underlying molecular alteration, in a pedigree with thrombocytopenia of uncertain etiology. [Patients/Methods]: Index case was enrolled in our Spanish multicentric project of inherited platelet disorders due to lifelong thrombocytopenia and bleeding. Bleeding score was recorded by ISTH‐BAT. Laboratory phenotyping consisted of blood cells count, blood film, platelet aggregation and flow cytometric analysis. Genotyping was made by whole‐exome sequencing (WES). Cytoskeleton proteins were analyzed in resting/spreading platelets by immunofluorescence and immunoblotting. [Results]: Five family members displayed lifelong mild thrombocytopenia with a high number of enlarged platelets in blood film, and mild bleeding tendency. Patient's platelets showed normal aggregation and granule secretion response to several agonists. WES revealed a novel nonsense variant (c.322C>T; p.Gln108*) in TPM4 (NM_003290.3), the gene encoding for tropomyosin‐4 (TPM4). This variant led to impairment of platelet spreading capacity after stimulation with TRAP‐6 and CRP, delocalization of TPM4 in activated platelets, and significantly reduced TPM4 levels in platelet lysates. Moreover, the index case displayed up‐regulation of TPM2 and TPM3 mRNA levels. [Conclusions]: This study identifies a novel TPM4 nonsense variant segregating with macrothrombocytopenia and impaired platelet cytoskeletal remodeling and spreading. These findings support the relevant role of TPM4 in thrombopoiesis and further expand our knowledge of TPM4‐related thrombocytopenia.This work was partially supported by grants from Instituto de Salud Carlos III (ISCIII) and Feder (PI17/01966, PI20/00926), Gerencia Regional de Salud (GRS2061A/19, GRS2135/A/2020, GRS2314/A/2021), Fundación Mutua Madrileña (FMM, AP172142019) and Sociedad Española de Trombosis y Hemostasia (SETHFETH; Premio López Borrasca 2019 and Ayuda a Grupos de Trabajo en Patología Hemorrágica 2020 and 2021).Peer reviewe

The CRISPR/Cas9 system efficiently reverts the tumorigenic ability of BCR/ABL in vitro and in a xenograft model of chronic myeloid leukemia

[EN]CRISPR/Cas9 technology was used to abrogate p210 oncoprotein expression in the Boff-p210 cell line, a pro-B line derived from interlukin-3-dependent Baf/3, that shows IL-3-independence arising from the constitutive expression of BCR-ABL p210. Using this approach, pools of Boff-p210-edited cells and single edited cell-derived clones were obtained and functionally studied in vitro. The loss of p210 expression in Boff-p210 cells resulted in the loss of ability to grow in the absence of IL-3, as the Baf/3 parental line, showing significantly increased apoptosis levels. Notably, in a single edited cell-derived clone carrying a frame-shift mutation that prevents p210 oncoprotein expression, the effects were even more drastic, resulting in cell death. These edited cells were injected subcutaneously in immunosuppressed mice and tumor growth was followed for three weeks. BCR/ABL-edited cells developed smaller tumors than those originating from unedited Boff-p210 parental cells. Interestingly, the single edited cell-derived clone was unable to develop tumors, similar to what is observed with the parental Baf/3 cell line. CRISPR/Cas9 genomic editing technology allows the ablation of the BCR/ ABL fusion gene, causing an absence of oncoprotein expression, and blocking its tumorigenic effects in vitro and in the in vivo xenograft model of CML. The future application of this approach in in vivo models of CML will allow us to more accurately assess the value of CRISPR/Cas9 technology as a new therapeutic tool that overcomes resistance to the usual treatments for CML patients

Filaggrin gene mutations and new SNPs in asthmatic patients: a cross-sectional study in a Spanish population

[EN] Background: Several null-mutations in the FLG gene that produce a decrease or absence of filaggrin in the skin and predispose to atopic dermatitis and ichthyosis vulgaris have been described. The relationship with asthma is less clear and may be due to the influence of atopy in patients with associated asthma. Methods: Four hundred individuals were included, 300 patients diagnosed with asthma divided into two groups according to their phenotype (allergic and non-allergic asthma) and 100 strictly characterized controls. The coding region and flanking regions of the FLG gene were amplified by PCR. We proceeded to the characterization of potential gene variants in that region by RFLP and sequencing and analysed their association with lung function parameters, asthma control and severity, and quality of life. Results: We identified two null-mutations (R501X and 2282del4), seven SNPs previously described in databases and three SNPs that had not been previously described. One of the SNP identified in this study (1741A > T) was more frequently detected in patients with non-allergic asthma, worse FVC, FEV1 and PEF values and a higher treatment step. In addition, lowered spirometric values were observed in the non-allergic group carrying any of the nonsynonymous SNPs. Conclusions: In the association study of genetic variants of the FLG gene in our population the 1741A > T polymorphism seems to be associated with non-allergic asthma

Geochemical dataset of high-pressure acid migmatites from the Cabo Ortegal Complex (NW Spain)

This brief note presents geochemical data from rock samples from the Cabo Ortegal Complex (NW Spain). The samples belong to acid lithologies within the mainly basic to intermediate granulite unit that have been poorly investigated so far. For this communication, five samples of the migmatites and an amphibolitic enclave within them have been analysed. The whole-rock major and trace-element analyses were accomplished by means of Q-ICPMS. The dataset provides new and useful information relevant to the origin of the acid migmatites and can be used in addition to information from neighbouring lithologies to enhance understanding of the geological evolution of the Western Variscan Belt

Letter in response to article in journal of infection: “High SARS-CoV-2 antibody prevalence among healthcare workers exposed to COVID-19 patients”

Letter to editorUnidad Docente de Inmunología, Oftalmología y ORLFac. de Óptica y OptometríaTRUEpu