Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Whole exome sequencing (WES) has made the identification of causative SNVs/InDels associated with rare Mendelian conditions increasingly accessible. Incorporation of softwares allowing CNVs detection into the WES bioinformatics pipelines may increase the diagnostic yield. However, no standard protocols for this analysis are so far available and CNVs in non-coding regions are totally missed by WES, in spite of their possible role in the regulation of the flanking genes expression. So, in a number of cases the diagnostic workflow contemplates an initial investigation by genomic arrays followed, in the negative cases, by WES. The opposite workflow may also be applied, according to the familial segregation of the disease. We show preliminary results for a diagnostic application of a single next generation sequencing panel permitting the concurrent detection of LOH and variations in sequences and copy number. This approach allowed us to highlight compound heterozygosity for a CNV and a sequence variant in a number of cases, the duplication of a non-coding region responsible for sex reversal, and a whole-chromosome isodisomy causing reduction to homozygosity for a WFS1 variant. Moreover, the panel enabled us to detect deletions, duplications, and amplifications with sensitivity comparable to that of the most widely used array-CGH platforms.

Mortality in a cohort of complex patients with chronic illnesses and multimorbidity: a descriptive longitudinal study.

BACKGROUND: Certain advanced chronic conditions (heart failure, chronic lung disease) are associated with high mortality. Nevertheless, most of the time, patients with these conditions are not given the same level of attention or palliative care as those with cancer. The objective of this study was to assess mortality and its association with other variables in a cohort of complex multimorbid patients with heart failure and/or lung disease from two consecutive telemonitoring studies. METHODS: This multicentre longitudinal study was conducted between 2010 and 2015. We included 83 patients (27 without telemonitoring) with heart failure and/or lung disease with > 1 hospital admission in the previous year and great difficulties leaving home or were housebound. The following variables were indicators of their complex clinical condition: old age (mean: 81 years), comorbidity (Charlson Comorbidity Index score ≥ 2: 86.2%), both conditions concurrently (54.2%) and home oxygen therapy (52%). We assessed mortality (rate, cause and place of death) and its association with: age, sex, telemonitoring, functional status (Barthel score), quality of life (EQ-5D visual analogue scale), number of medications, and all-cause and condition-specific (due to conditions prompting inclusion) admissions during the previous year. Uni- and bivariate analysis and logistic regression were performed, considering p < 0.05 significant. RESULTS: A total of 61 patients died within 5 years, representing 31.2%/year (95% CI: 23-40.1%), considering the overall follow-up (sum of individual follow-up days). Of these, 81% of deaths (95% CI: 69.1-89-1%) were due to the condition prompting inclusion, and 83.3% (95% CI: 72-90.7%) died in hospital (median: 8.5 days). Mortality was lower among those under telemonitoring (p = 0.027), and with fewer condition-specific admissions the previous year (p = 0.006); the latter also showed the strongest association in the multivariate analysis (Exp(B) = 6.115). CONCLUSIONS: Complex patients with multimorbidity had a high mortality rate, generally dying due to the condition for which they had been included, and in hospital (83.3%). New approaches for managing such patients should be considered, introducing palliative care as required, and using more comprehensive predictors of mortality (functional status and quality of life), together with those related to the illness itself (previous admissions, progression and symptoms).

Satisfacción de los profesionales con la telemonitorización de pacientes crónicos domiciliarios en atención primaria (proyecto TELBIL-A) / Satisfaction of professionals taking part in a project of telemonitoring in-home patients with chronic diseases (TELBIL-A project)

Objetivo. Conocer la satisfacción de los profesionales (enfermería/medicina) que participaban en un proyecto de telemonitorización, desde la atención primaria, de pacientes con enfermedades crónicas (insuficiencia cardiaca y/o broncopatía), con varios ingresos hospitalarios y dificultad para salir de sus domicilios (proyecto TELBIL-A). Material y métodos. En noviembre de 2012 se remitió a los correos electrónicos de 55 sanitarios participantes un cuestionario Web (aplicación «encuesta fácil») diseñado por los investigadores. Constaba de 6 ítems para valorar satisfacción (escala de Likert de 1 —mayor desacuerdo, apreciación más negativa— a 5 —mayor acuerdo, apreciación más positiva—), edad, experiencia profesional y una pregunta abierta para comentarios. Los datos se descargaron y analizaron con el programa SPSS 18.0. Resultados. La tasa de respuesta fue de 90,9% (50 respuestas), 94% de mujeres, un 68% >= 40 años y un 90% > 5 años de experiencia trabajando en el centro de salud. Un 86% eligió la respuesta 4 o 5 en el ítem de satisfacción general con el proyecto, siendo la puntuación media de 4,4 puntos. La media para el resto de preguntas fue de: 3,8 para la interferencia con las tareas habituales, 4,5 en apreciar ventajas en el manejo de los pacientes, 4,2 en la sensación de que los pacientes participaban más en su autocuidado, 3,9 en el aspecto tecnológico y 4,3 en recomendarlo potencialmente a un amigo/familiar. Conclusiones. En las condiciones del estudio se observa una elevada satisfacción con el proyecto TELBIL-A por parte de los profesionales que están participando en el mismo (AU)

Objective: To analyze, through an on-line survey, the satisfaction of professionals (nurses/ general practitioners) taking part in a project of telemonitoring in-home patients with chronic diseases (heart failure and/or pulmonary disease) with ≥2 hospital admissions in the last year (TELBIL-A project). Material and methods: An on-line questionnaire designed by the researchers (using «easy survey» application) was sent to professionals’ email. It consisted of several items to assess satisfaction (Likert scale from 1-strongly disagree, negative appreciation- to 5- strongly agree, positive appreciation-), age, number of years working in Primary Care, and an open question for comments. Data were analyzed using SPSS 18.0. Results: We received responses from 50 out of 55 professionals (90.9%), of whom 94% were female, and 68% aged >=40 years, with 90% working > 5 years in Primary Care. They chose in 86% answer 4 or 5 for the item on overall satisfaction with the project, with the average score being 4.4. The means for the rest of questions were: 3.8 for interference with other professional daily tasks, 4.5 appreciating advantages in the management of patients, 4.2 for the feeling that patients are more involved in their own care, 3.9 for technological aspects, and 4.3 for recommending to a friend/relative. Conclusions: The study explores one aspect, satisfaction with the project, which is critical because of the association with the correct compliance and developing of the intervention. We found a high satisfaction of professionals involved with the TELBIL-A project (AU)

[Satisfaction of professionals taking part in a project of telemonitoring in-home patients with chronic diseases (TELBIL-A project)]. / Satisfacción de los profesionales con la telemonitorización de pacientes crónicos domiciliarios en atención primaria (proyecto TELBIL-A).

OBJECTIVE: To analyze, through an on-line survey, the satisfaction of professionals (nurses/general practitioners) taking part in a project of telemonitoring in-home patients with chronic diseases (heart failure and/or pulmonary disease) with ≥2 hospital admissions in the last year (TELBIL-A project). MATERIAL AND METHODS: An on-line questionnaire designed by the researchers (using «easy survey¼ application) was sent to professionals' email. It consisted of several items to assess satisfaction (Likert scale from 1-strongly disagree, negative appreciation- to 5- strongly agree, positive appreciation-), age, number of years working in Primary Care, and an open question for comments. Data were analyzed using SPSS 18.0. RESULTS: We received responses from 50 out of 55 professionals (90.9%), of whom 94% were female, and 68% aged ≥40 years, with 90% working >5 years in Primary Care. They chose in 86% answer 4 or 5 for the item on overall satisfaction with the project, with the average score being 4.4. The means for the rest of questions were: 3.8 for interference with other professional daily tasks, 4.5 appreciating advantages in the management of patients, 4.2 for the feeling that patients are more involved in their own care, 3.9 for technological aspects, and 4.3 for recommending to a friend/relative. CONCLUSIONS: The study explores one aspect, satisfaction with the project, which is critical because of the association with the correct compliance and developing of the intervention. We found a high satisfaction of professionals involved with the TELBIL-A project.

Síndrome de Parsonage Turner, a propósito de dos casos en atención primaria / Parsonage Turner syndrome. Based on two cases seen in Primary Care

Se revisan 2 casos de neuritis braquial aguda diagnosticados en el ámbito de la atención primaria con el apoyo de la consulta especializada (traumatología y neumología) para la solicitud de estudios complementarios como la RMN. Ambos casos debutaron con dolor intenso de pocos días de duración, al remitir el dolor aparece la debilidad en el hombro afecto. Los estudios electrofisiológicos realizados (electromiograma) demostraron denervación aguda del plexo braquial. La recuperación fue prácticamente completa en el plazo aproximado de 12 meses (AU)

Two cases of acute brachial neuritis diagnosed in primary care with the support of the specialized consultation (traumatology and pneumology) for the request of complementary studies such as nuclear magnetic resonance imaging (MRI) studies are reported. Both cases began with severe pain that disappeared after a few days. Following this, weakness appeared in the affected shoulder. The electrophysiological studies (electromyogram) showed acute denervation of the brachial plexus. Medical recovery was almost complete in both cases in approximately 12 months (AU)

[Preventing dependency in the elderly]. / Prevención de la dependencia en las personas mayores.

INTRODUCTION: Dependency, i.e. the need to depend on another person to perform activities of daily living, is the main concern and cause of suffering and poor quality of life in the elderly. The prevalence of dependency increases with age and is related to the presence of prior disease and fragility. Dependency is associated with increased morbidity, mortality and institutionalization, as well as with greater health and social resource utilization, all of which increases health costs. OBJECTIVE: To create a consensus document on the main health recommendations for the prevention of dependency in the elderly, based on the scientific evidence available to date, with the collaboration of scientific societies and public health administrations (the Spanish Ministry of Health, Autonomous Communities and Cities). METHODS: a) a preliminary consensus document was drafted by an expert group composed of representatives of various scientific societies and health administrations. This document was based on a review of the recommendations and guidelines published by the main organizations involved in health promotion and the prevention of disease, functional deterioration and dependency in the elderly; b) the consensus document was reviewed by the remaining experts assigned by the scientific societies and central and autonomous administrations; c) the final document was approved after a session in which the text was discussed and reviewed by all the experts participating in the working group (including the academic committee); d) the document was presented and discussed in the First National Conference on Prevention and Health Promotion in Clinical Practice in Spain. All participating experts signed a conflicts of interest statement. RESULTS: The document provides recommendations, with their grades of evidence, grouped in the following three categories: a) health promotion and disease prevention, with specific preventive activities for the elderly, including prevention of geriatric syndromes; b) prevention of functional deterioration, with clinical recommendations that can be applied in primary and specialized care; c) prevention of iatrogeny (drug prescription, inappropriate use of diagnostic and therapeutic modalities and healthcare). These recommendations were tailored to the characteristics of the older person (OP), categorized in five groups: healthy OP, OP with chronic disease, fragile or at risk OP, dependent OP, and OP at the end of life. CONCLUSION: These recommendations should be implemented by public health administrations to improve strategies for the prevention of dependency in the elderly in the xxi century.

Actividades preventivas en los mayores / Preventive activities in the elderly

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[Identification of items for creating a questionnaire for the assessment of instrumental activities of daily living (IADL) in elderly patients]. / Identificación de ítems para la creación de un cuestionario de valoración de actividades instrumentales de la vida diaria en personas mayores.

OBJECTIVE: To identify items to design a questionnaire to assess IADL in the elderly in the community. DESIGN: Delphi study. LOCATION: Community setting, primary health care. PARTICIPANTS: Fifty seven multidisciplinary experts (family doctors, geriatricians, physiotherapists, social workers, male nurses) who are members of the Spanish Society of Family and Community Medicine or the Spanish Geriatrics and Gerontology Society. METHODS: Three consecutive questions sent via e-mail or fax. First: what items you would take into account in a questionnaire to assess IADL in the elderly? Second: out of the groupings select 10 you consider to be of special relevance? Third: among the 14 more most selected items, select, by scoring from 1 to 10, the ones you consider more important? In the end we obtained the 10 items to include in the questionnaire according to their scores. RESULTS: Thirty experts answered the 3 mailings. The 53 initial proposals were grouped into 24 items. In the end we obtained the following selection (from higher to lower score): dealing with medication, use of the telephone, housework, handling money, walking outside the home, security measures and risk avoidance, shopping, dealing with doors and keys, transport use, and means of social contact. CONCLUSIONS: Only 2 items could have gender influence (in contrast to other questionnaires), as "shopping" does not refer only to the household ones and "housework" also includes activities carried out by males. The most important items are "dealing with medication" (due to the high prevalence of problems and clinical outcomes) and "the use of the telephone" (survival item).

Identificación de ítems para la creación de un cuestionario de valoración de actividades instrumentales de la vida diaria en personas mayores / Identification of items for creating a questionnaire for the assessment of instrumental activities of daily living (IADL) in elderly patients

Objetivo. Seleccionar ítems para diseñar un cuestionario de valoración de las actividades instrumentales de la vida diaria (AIVD) en personas mayores residentes en la comunidad. Diseño. Estudio Delphi. Emplazamiento. Medio comunitario, atención primaria. Participantes. Un total de 57 expertos multidisciplinarios (médicos de familia, geriatras, fisioterapeutas, trabajadores sociales, enfermeros) pertenecientes a la Sociedad Española de Medicina de Familia y Comunitaria (semFYC) o a la Sociedad Española de Geriatría y Gerontología (SEGG). Métodos. Se realizaron 3 envíos consecutivos por correo electrónico o fax. En el primer envío se interrogaba acerca de qué ítems incluirían en un cuestionario para valorar las AIVD en personas mayores; en el segundo se pedía que seleccionaran, de los ítems agrupados, los 10 que consideraran más relevantes, y un tercero se solicitaba que, de los 14 ítems más seleccionados, puntuaran de 1 a 10 los más trascendentes. Así pues, se obtuvieron ordenados por puntuación los 10 ítems que debían ser incluidos. Resultados. A los 3 correos contestaron 30 expertos. Las 53 propuestas iniciales se agruparon en 24 ítems y finalmente se seleccionaron (de mayor a menor puntuación) los siguientes: utilización de los fármacos, uso del teléfono, tareas domésticas, utilización del dinero, deambulación fuera del domicilio, medidas de seguridad y evitación de riesgos, realización de compras, uso de puertas y llaves, uso del transporte y medios de relación social. Conclusiones. Sólo 2 ítems podrían estar influidos por el sexo (en contraposición con otros cuestionarios disponibles), aunque «la realización de compras» no se limita a las domésticas y en «tareas domésticas» se incluyen actividades también realizadas por los varones. Los ítems más relevantes son «utilización de los fármacos» (importancia por prevalencia/repercusión clínica) y «empleo del teléfono» (ítem de subsistencia)

Objective. To identify items to design a questionnaire to assess IADL in the elderly in the community. Design. Delphi study. Location. Community setting, primary health care. Participants. Fifty seven multidisciplinary experts (family doctors, geriatricians, physiotherapists, social workers, male nurses) who are members of the Spanish Society of Family and Community Medicine or the Spanish Geriatrics and Gerontology Society. Methods. Three consecutive questions sent via e-mail or fax. First: what items you would take into account in a questionnaire to assess IADL in the elderly? Second: out of the groupings select 10 you consider to be of special relevance? Third: among the 14 more most selected items, select, by scoring from 1 to 10, the ones you consider more important? In the end we obtained the 10 items to include in the questionnaire according to their scores. Results. Thirty experts answered the 3 mailings. The 53 initial proposals were grouped into 24 items. In the end we obtained the following selection (from higher to lower score): dealing with medication, use of the telephone, housework, handling money, walking outside the home, security measures and risk avoidance, shopping, dealing with doors and keys, transport use, and means of social contact. Conclusions. Only 2 items could have gender influence (in contrast to other questionnaires), as "shopping" does not refer only to the household ones and "housework" also includes activities carried out by males. The most important items are "dealing with medication" (due to the high prevalence of problems and clinical outcomes) and "the use of the telephone" (survival item)

Utilidad del cuestionario de Barber para seleccionar a personas de 75 años o más con riesgo de hospitalización, institucionalización o muerte / Utility of the Barber questionnaire to select individuals aged 75 years or more at risk of hospitalisation, institutionalisation or death

Introducción y objetivo: analizar la asociación del cuestionario de Barber (CB) positivo con hospitalización-institucionalización-muerte al año, en una consulta de atención primaria en población de 75 años o mayor. Material y métodos: estudio de cohortes, CB positivo/negativo; 133 personas. Valoración inicial: CB, edad, sexo, índice de Barthel, cuestionario de Pfeiffer. Resultados: edad media, 80,6 años (P75, 83 años); el 45,5% eran varones. CB positivo, 62,9% (intervalo de confianza [IC] del 95%, 54,5-71,3); el 72,3%, ≤ 2 puntos. Sólo una respuesta afirmativa al ítem 2, y ninguna al 4. Barthel alterado, el 27,6% del total; Pfeiffer, el 19,4%. Asociación CB positivo-Barthel y Barthel-Pfeiffer alterados (p < 0,0001). Riesgo relativo (RR) = 2,1 (IC del 95%, 0,8-5,4) para hospitalización, y 2,3 (IC del 95%, 0,9-5,7) para los 3 eventos en conjunto, si el CB era positivo; 23,8 (IC del 95%, 3,0-182,9) y 37,2 (IC del 95%, 4,9-283,2) para mortalidad; 2,7 (IC del 95%, 1,3-5,6) y 2,5 (IC del 95%, 1,2-5,1) para hospitalización; 2,8 (IC del 95%, 1,4-5,7) y 2,5 (IC del 95%, 1,2-5,3) para los 3 eventos, si el índice de Barthel o el cuestionario de Pfeiffer estaban alterados, respectivamente. RR de eventos en conjunto = 2,6 (IC del 95%, 1,2-5,4) si el ítem 6 («problemas le impiden valerse autónomamente») es positivo, y 4,9 (IC del 95%, 2,4-10,0) si es el ítem 9 («hospitalización previa»); ambos ítems son las únicas variables que obtienen RR estadísticamente significativos en la regresión logística. El valor predictivo positivo (VPP) del CB, considerando eventos acaecidos, es del 27,7%. Conclusiones: es uno de los escasos estudios realizados en España sobre la utilidad del CB. Éste presenta importantes limitaciones para uso como cribado: pobre VPP, deficiente validez de contenido, asociación con deterioro funcional o cognitivo condicionan los resultados. Los ítems 9 y 6 y la alteración funcional predicen mejor los eventos adversos

Introduction and objective: to analyse the association between positive-Barber questionnaire (BQ) and hospital-institutional admissions and death within a year, in individuals aged 75 years old or older in a primary care centre. Material and methods: cohort study: positive/negative BQ. 133 persons. Initial assessment: BQ, age, gender, Barthel index, Pfeiffer questionnaire. Results: Mean age: 80.6 (P75 83 years old). Males: 45.5%. Positive BQ: 62.9% (95%CI 54.5-71.3), 72.3% ≤2 points. Only one person answered affirmatively to item 2 and none to item 4. Altered Barthel score 27.6% of the total; Pfeiffer 19.4%. Association positive BQ-Barthel and Barthel-Pfeiffer, both altered (p <0.0001). Relative risk (RR, considering density of incidence): 2.1 (95%CI 0.8-5.4) for hospitalisation, and 2.3 (95%CI 0.9-5.7) for three events as a whole, if BQ was positive; 23.8 (95%CI 3.0-182.9) and 37.2 (95%CI 4.9-283.2) for mortality, 2.7 (95%CI 1.3-5.6) and 2.5 (95%CI 1,2-5,1) for hospitalisation, 2.8 (95%CI 1.4-5.7) and 2.5 (95%CI 1.2-5.3) for three events, if Barthel or Pfeiffer was altered, respectively. RR considering the three events as a whole was 2.6 (95%CI 1.2-5.4) if item 6 ("problems which limit his/her autonomy") was positive, and 4.9 (IC95% 2.4-10.0) when item 9 ("previous hospitalisation") was positive; these two items were the only variables with significant RR in the regression analysis. The positive predictive value of the BQ, when considering events occurred, was 27.7%. Conclusions: The present study is one of the few studies in Spain on the utility of the BQ. This questionnaire presents considerable limitations for use in screening with poor predictive value and deficiencies in content validity, while association with deteriorated functional-cognitive status can influence the results. Items 9 and 6 and functional alteration better predict adverse events

Detección de ancianos de riesgo en atención primaria. Recomendación / Clinical guide to the menopause and post-menopause

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Atención a las personas mayores en atención primaria. Necesidad de formación / Care of the elderly in primary care. Need for training

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Comparación de la situación sanitaria, en base a una Valoración Geriátrica Integral, entre una población rural y urbana de 75 o más años de una misma zona de salud / Comparison of the health care status with a global geriatric assessment in a >= 75 year old rural and urban population within the same health care area

OBJETIVO: Analizar las diferencias sanitarias, mediante la aplicación de 'Valoración Integral', en personas de 75 o más años del medio rural y urbano de una misma zona de salud. DISEÑO: Descriptivo. EMPLAZAMIENTO: Atención Primaria. PACIENTES: Muestreo, aleatorio simple en el medio urbano y estratificado por pueblos, de las personas >= 75 años residentes en la comunidad. INTERVENCION: Realización de 'Valoración Integral' con aspectos clínico-funcionales (patología-medicación, caídas, TA, vacunaciones, hábitos tóxicos, nutrición, visión, audición, cuestionarios de Lawton y de Katz), estado cognitivo (Pfeiffer), y valoración social. RESULTADOS: Existieron diferencias significativas en la mayor cobertura antigripal (79,5 frente a 61,9 por ciento, p 0,005), mejor funcionalidad en el cuestionario de Lawton (deterioro 17,1 frente a 28,1 por ciento, p 0,014), mejor estado cognitivo en el cuestionario de Pfeiffer (deterioro 10,7 frente a 20,6 por ciento, p 0,010), y mayor porcentaje de asistencia domiciliaria (15,5 frente a 3,3 por ciento, p 0,001) en el medio urbano. En cuanto a patología médica, existió mayor prevalencia de artrosis (40,6 frente a 31,0 por ciento, p 0,062) e insomnio (18,8 por ciento frente a 7,0 por ciento, p 0,001) en el medio rural, y de broncopatía crónica (8,8 frente a 15,5 por ciento, p 0,057) y diabetes (4,4 frente a 12,3 por ciento, p 0,009) en el medio urbano. CONCLUSIONES: El mejor estado funcional-cognitivo en el medio urbano puede estar asociado con otros factores como mayor accesibilidad y disposición a recursos socio-sanitarios, incluida institucionalización. La mayor prevalencia de patología osteoarticular en el medio rural puede condicionar una peor situación funcional. Son más prevalentes en medio urbano la broncopatía y la diabetes (AU)

[The health situation of the non-institutionalized elderly urban population of Castro Uridiales and the differentiating characteristics of those attending the health center frequently]. / Situación sanitaria de la población anciana urbana no institucionalizada de Castro Urdiales, y características diferenciadoras de los que más frecuentan el centro de salud.

OBJECTIVES: Main: to describe the health situation of the urban non-institutionalised population of 75 or over in Castro Urdiales. Secondary. To analyse the differences in the over-user group. DESIGN: Descriptive, crossover. SETTING: Primary Care Health Centre. PATIENTS: People in the urban area aged 75 or over and with the following inclusion criteria: not institutionalised, who had been at least 6 months in the town, and for whom there was data for locating them. Over-users: people in the upper third of attendance (9 or more consultations per year). MEASUREMENTS AND MAIN RESULTS: A "Comprehensive Geriatric Assessment" was performed, cognitive state (Pfeiffer) and social assessment. The over-user group functioned better, had a better cognitive state and consumed more medication. CONCLUSIONS: The results coincided with other studies in most of the items analysed. It is important to be aware of the worse functional and cognitive condition of the group which attended the Health Centre least. Sub-groups of the elderly still need to be studied.