ABSTRACT
La tecnología de microarrays, de reciente implantación en el diagnóstico prenatal internacional, se ha convertido en uno de los pilares de este diagnóstico en cuanto a su capacidad de detección y objetividad de resultados. La presente guía comprende una exposición general de la tecnología, incluyendo aspectos técnicos y diagnósticos a tener en cuenta. En concreto, se definen: los distintos tipos de muestras prenatales que se van a utilizar (biopsia de vellosidades coriónicas, líquido amniótico, sangre procedente de cordón umbilical o material procedente de restos abortivos) así como las particularidades de cada una de ellas; qué puntos hay que tener en cuenta de cara a la elaboración de un consentimiento informado y de la emisión de un informe de microarray prenatal, especialmente en el caso de la posible definición de variantes de significado incierto; las limitaciones inherentes a la técnica que deben ser tenidas en cuenta a la hora de recomendar su uso diagnóstico; así como un algoritmo pormenorizado de situaciones clínicas, donde se recomienda el uso de microarrays y su incorporación a la rutina clínica en el contexto de otras pruebas genéticas, incluyendo embarazos con antecedentes familiares o hallazgos sugerentes de un síndrome concreto, translucencia nucal incrementada en el primer trimestre o cardiopatía congénita en el segundo trimestre y hallazgos ecográficos no relacionados con un síndrome conocido o específico. Esta guía ha sido coordinada por la Asociación Española de Diagnóstico Prenatal (AEDP), la Asociación Española de Genética Humana (AEGH) y la Sociedad Española de Genética Clínica y Dismorfología (SEGCyD) (AU)
Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Specifically, this guideline defines: the different prenatal sample types to be used, as well as their characteristics (chorionic villi samples, amniotic fluid, fetal cord blood or miscarriage tissue material); variant reporting policies (including variants of uncertain significance) to be considered in informed consents and prenatal microarray reports; microarray limitations inherent to the technique and which must be taken into account when recommending microarray testing for diagnosis; a detailed clinical algorithm recommending the use of microarray testing and its introduction into routine clinical practice within the context of other genetic tests, including pregnancies in families with a genetic history or specific syndrome suspicion, first trimester increased nuchal translucency or second trimester heart malformation and ultrasound findings not related to a known or specific syndrome. This guideline has been coordinated by the Spanish Association for Prenatal Diagnosis (AEDP, «Asociación Española de Diagnóstico Prenatal»), the Spanish Human Genetics Association (AEGH, «Asociación Española de Genética Humana») and the Spanish Society of Clinical Genetics and Dysmorphology (SEGCyD, «Sociedad Española de Genética Clínica y Dismorfología») (AU)
Subject(s)
Humans , Male , Female , MicroRNAs/administration & dosage , MicroRNAs/analysis , Prenatal Diagnosis/methods , Amniotic Fluid , Cordocentesis/methods , Genetic Testing/methodsABSTRACT
Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Specifically, this guideline defines: the different prenatal sample types to be used, as well as their characteristics (chorionic villi samples, amniotic fluid, fetal cord blood or miscarriage tissue material); variant reporting policies (including variants of uncertain significance) to be considered in informed consents and prenatal microarray reports; microarray limitations inherent to the technique and which must be taken into account when recommending microarray testing for diagnosis; a detailed clinical algorithm recommending the use of microarray testing and its introduction into routine clinical practice within the context of other genetic tests, including pregnancies in families with a genetic history or specific syndrome suspicion, first trimester increased nuchal translucency or second trimester heart malformation and ultrasound findings not related to a known or specific syndrome. This guideline has been coordinated by the Spanish Association for Prenatal Diagnosis (AEDP, «Asociación Española de Diagnóstico Prenatal¼), the Spanish Human Genetics Association (AEGH, «Asociación Española de Genética Humana¼) and the Spanish Society of Clinical Genetics and Dysmorphology (SEGCyD, «Sociedad Española de Genética Clínica y Dismorfología¼).
Subject(s)
Congenital Abnormalities/diagnosis , Genetic Diseases, Inborn/diagnosis , Oligonucleotide Array Sequence Analysis , Prenatal Diagnosis/methods , Congenital Abnormalities/genetics , Female , Genetic Diseases, Inborn/genetics , Genetic Markers , Humans , PregnancyABSTRACT
Fundamento: la autogestión se ha relacionado con un incremento de la eficiencia y de la satisfacción profesional. Ante cualquier cambio tendente a una gestión más autónoma es trascendente conocer el posicionamiento de sus profesionales y directivos. El objetivo del trabajo es conocer la importancia atribuida por los coordinadores de los centros de salud (CS) a la autonomía clínica y de gestión, así como su capacidad de decisión y sus expectativas sobre la factibilidad de implantar un proyecto de gestión autónoma. Métodos: Diseño: Descriptivo transversal, aplicación de cuestionario. Emplazamiento: Atención Primaria, año 2009. Participantes: Todos los coordinadores de los CS de Mallorca (47). Intervenciones y mediciones principales: 27 preguntas que exploran la opinión del coordinador sobre la importancia de los componentes de la autogestión, su capacidad de intervención actual, la propensión/aversión al riesgo, la capacidad de liderazgo, y la factibilidad de un proyecto de autogestión. Resultados: Tasa respuestas: 42/47 (89,4%). 42 (100%) atribuyeron la máxima importancia a la gestión de los recursos humanos, 41 (97,6%) a la gestión de la demanda y 40 (95,2%) a la gestión de las listas de espera. 15 (35,7%) asumirían un riesgo financiero, 14 (33,3%) se consideraban capacitados y 18 (42,9%) se mostraban dispuestos a liderar un proceso de autogestión. 14 (33,3%) pensaban que los profesionales de su equipo no estarían interesados en un proceso de autogestión y 29 (69%) creían que otros CS de Mallorca podrían desarrollarlo. Conclusiones: Los coordinadores encuestados manifestaron disponer de una limitada capacidad de decisión sobre los componentes de la autogestión, ser aversos al riesgo y presentar una escasa capacidad y disposición para liderar proyectos de autogestión(AU)
Background: The self-management has been linked with increased efficiency and job satisfaction. Before any changes aimed at a more autonomous management is important to know the position of professionals and managers. Objective: To assess the importance attached by the coordinators of the health centers (HC) to the clinical and managerial autonomy, knowing their decision making capacity and their expectations about the feasibility of implementing a project of self-management. Methods: Design: cross-sectional study, application questionnaire. Location: Primary Care, 2009. Participants: All the coordinators of the HC of Mallorca (N = 47). Interventions and Measurements: 27 questions that explore the coordinator's opinion about the importance of the components of the self-management, its ability to present intervention, the propensity / aversion to risk, leadership, and the feasibility of a selfmanagement. Results: response rate: 42/47 (89,4%). 42 (100%) attaches the highest importance to the management of human resources, 41 (97,6%) to demand management and 40 (95,2%) to the management of waiting lists. 15 (35,7%) would take a financial risk, 14 (33,3%) were considered trained and 18 (42,9%) were willing to lead a process of self-management. 14 (33,3%) thought that the professionals in your team would not be interested in a process of self-management and 29 (69%) believed that others could develop HC of Mallorca. Conclusions: The respondents were coordinators have a limited ability to decide on the components of the self-management, being risk averse and make a little leadership ability and willingness to self-management projects(AU)
Subject(s)
Humans , Male , Female , Health Centers , Personal Satisfaction , Primary Health Care/methods , Primary Health Care , Cross-Sectional Studies , Surveys and Questionnaires , Primary Health Care/organization & administration , Primary Health Care/trendsABSTRACT
BACKGROUND: The self-management has been linked with increased efficiency and job satisfaction. Before any changes aimed at a more autonomous management is important to know the position of professionals and managers. objective: To assess the importance attached by the coordinators of the health centers (HC) to the clinical and managerial autonomy, knowing their decision making capacity and their expectations about the feasibility of implementing a project of self-management. DESIGN: cross-sectional study, application questionnaire. LOCATION: Primary Care, 2009. PARTICIPANTS: All the coordinators of the HC of Mallorca (N = 47). INTERVENTIONS AND MEASUREMENTS: 27 questions that explore the coordinator's opinion about the importance of the components of the self-management, its ability to present intervention, the propensity / aversion to risk, leadership, and the feasibility of a self-management. RESULTS: response rate: 42/47 (89,4%). 42 (100%) attaches the highest importance to the management of human resources, 41 (97,6%) to demand management and 40 (95,2%) to the management of waiting lists. 15 (35,7%) would take a financial risk, 14 (33,3%) were considered trained and 18 (42,9%) were willing to lead a process of self-management. 14 (33,3%) thought that the professionals in your team would not be interested in a process of self-management and 29 (69%) believed that others could develop HC of Mallorca. CONCLUSIONS: The respondents were coordinators have a limited ability to decide on the components of the self-management, being risk averse and make a little leadership ability and willingness to self-management projects.
Subject(s)
Attitude of Health Personnel , Community Health Centers/organization & administration , Health Facility Administrators , Personnel Management , Primary Health Care/organization & administration , Professional Autonomy , Cross-Sectional Studies , Decision Making, Organizational , Humans , Spain , Surveys and QuestionnairesABSTRACT
Durante el mes de febrero hubieron 843 casos de EDA en pediatría, de los cuales se cultivaron 272 pacientes(32 por ciento). De ellos, serecuperó V. cholerae 01 en 137 pacientes (50.4 por ciento). Se utilizaron estos grupos con el objeto de comparar características de la diarrea por V. cholerae. En los pacientes con V. cholerae la edad promedio fue significativamente mayor, 67.5m vs 43.5 (p<0.0001). Se recuperó mas frecuentemente en escolares (p<0.0001) y los mayores de 2 a. tuvieron 3.6 veces más probabilidad de enfermarse(2.07Subject(s)
Humans
, Male
, Female
, Infant, Newborn
, Infant
, Child, Preschool
, Cholera/diagnosis
, Cholera/etiology
, Child
, Vibrio cholerae/isolation & purification
, Vibrio cholerae/pathogenicity
, Risk Factors
, Diarrhea/diagnosis
, Diarrhea/etiology
, Diarrhea/therapy
