{"id":3283,"date":"2017-10-11T08:48:00","date_gmt":"2017-10-11T08:48:00","guid":{"rendered":"https:\/\/sindromecharge.es\/index.php\/2017\/10\/11\/inauguramos-una-jornada-sobre-el-swh-en-madrid-2\/"},"modified":"2017-10-11T08:48:00","modified_gmt":"2017-10-11T08:48:00","slug":"inauguramos-una-jornada-sobre-el-swh-en-madrid-2","status":"publish","type":"post","link":"https:\/\/sindromecharge.es\/index.php\/2017\/10\/11\/inauguramos-una-jornada-sobre-el-swh-en-madrid-2\/","title":{"rendered":"Inauguramos una Jornada sobre el SWH en Madrid"},"content":{"rendered":"<p>Leemos en FEDER la siguiente noticia que os reproducimos de forma \u00edntegra: <\/p>\n<p>La I Jornada de Actualizaci\u00f3n en el S\u00edndrome de Wolf-Hirschhorn (SWH) se celebra el viernes, 13 de octubre, el Hospital Universitario La Paz de Madrid. Estaremos presente en el acto inaugural a trav\u00e9s de Juan Carri\u00f3n, Presidente de Feder y de su Fundaci\u00f3n.<\/p>\n<p>Estas jornadas pretenden exponer los \u00faltimos avances cient\u00edficos relativos a esta patolog\u00eda poco frecuente y, adem\u00e1s, tratar\u00e1n el SWH desde la perspectiva familiar. M\u00e1s de diez expertos en el S\u00edndrome, nacionales e internacionales, participar\u00e1n en esta jornada con sus ponencias.<\/p>\n<p>El acto est\u00e1 promovido por la Asociaci\u00f3n Espa\u00f1ola del S\u00edndrome Wolf-Hirschhorn, con nuestra colaboraci\u00f3n y la del Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), el Hospital Universitario La Paz, el Instituto de Investigaci\u00f3n Hospital Universitario La Paz y al Instituto de Gen\u00e9tica M\u00e9dica y Molecular del Hospital Universitario La Paz.<\/p>\n<p>La Jornada se dividir\u00e1 en tres partes: \u201cSesi\u00f3n I. El S\u00edndrome y las familias\u201d, \u201cConferencia Central\u201d y \u201cSesi\u00f3n II. Los Avances Cient\u00edficos\u201d. El Congreso comenzar\u00e1 a las 10:00 horas y se desarrollar\u00e1 hasta, aproximadamente las 19:30 horas.<\/p>\n<p>Celia P\u00e9rez, de la Asociaci\u00f3n Espa\u00f1ola del S\u00edndrome Wolf-Hirschhorn, es la encargada de dar comienzo a la Jornada. Narrar\u00e1 sus vivencias por medio de la ponencia \u201cExperiencia de una Familia Espa\u00f1ola\u201d. Le seguir\u00e1n, entre otros, los terapeutas ocupacionales Centro Logos, Sorangui M\u00e1rquez y Sergio Serrada, quienes protagonizar\u00e1n la ponencia \u201cEl procesamiento sensorial y su impacto sobre el desarrollo; consideraciones espec\u00edficas para el SWH\u201d.<\/p>\n<p>Por su parte, Sarah Berrocoso Cascallana, neuro-eMotion, de la Universidad de Deusto, llevar\u00e1 a cabo la exposici\u00f3n \u201cApoyo a familiares SWH en el \u00e1mbito psicosocial\u201d. \u201cPresentaci\u00f3n Cohorte espa\u00f1ola de Wolf\u2010Hirschhorn\u201d, ser\u00e1 la presentaci\u00f3n realizada por Raquel Blanco y Juli\u00e1n Nevado, del Instituto de Gen\u00e9tica m\u00e9dica y molecular. (INGEMM) del Hospital la Paz y del CIBERER.<\/p>\n<p>Tras una pausa para el almuerzo, ser\u00e1 el turno de Marcella Zollino, Department of Laboratory Medicine, Institute of Medical Genetics, Catholic University, Rome, Italy, quien protagonizar\u00e1 la ponencia central de esta Jornada: \u00abNuevas ideas sobre los mecanismos pat\u00f3genos para las convulsiones y el retraso del crecimiento en S\u00edndrome de Wolf-Hirschhorn\u00bb.<\/p>\n<p>Despu\u00e9s, tendr\u00e1n lugar las ponencias dedicadas a los Avances cient\u00edficos. Aqu\u00ed, seis expertos en el S\u00edndrome expondr\u00e1n diferentes terapias y avances. Entre ellos, C\u00e9sar Cobaleda, del Centro de Biolog\u00eda Molecular del Hospital Severo Ochoa o Eduardo L\u00f3pez, del Hospital Universitario La Paz.<\/p>\n<p>Sobre el SWH<br \/>El S\u00edndrome de Wolf-Hirschhorn es originado por una p\u00e9rdida del material gen\u00e9tico, lo que da lugar a un conjunto de manifestaciones cl\u00ednicas, que var\u00edan entre los individuos. Desde su descripci\u00f3n en 1961, tiene una incidencia en la poblaci\u00f3n de 1\/50.000-1\/20.000 nacimientos y, adem\u00e1s, es predominante entre las f\u00e9minas.<\/p>\n<p>Las manifestaciones b\u00e1sicas para sospechar de un caso de SWH son: presencia de un fenotipo caracter\u00edstico (microcefalia, nariz ancha y\/o puntiaguda, comisuras bucales dobladas hacia abajo\u2026), retraso en el crecimiento intrauterino que, generalmente, suele continuar en etapas posnatales, retraso en el desarrollo psicomotor, epilepsia, retraso mental, convulsiones, defectos cong\u00e9nitos del coraz\u00f3n y anomal\u00edas genitales y renales.. Adem\u00e1s, tambi\u00e9n pueden existir alteraciones sensoriales o cardiol\u00f3gicas.<\/p>\n<p>El acceso a este Congreso es gratuito y es necesaria una inscripci\u00f3n previa. Si desea acudir, debe enviar un correo a <a href=\"mailto:genmed.hulp@salud.madrid.org\">genmed.hulp@salud.madrid.org<\/a> (la fecha de inscripci\u00f3n finaliza el 9 de octubre).<\/p>\n<p>Puede vistualizar el programa completo de la Jornada <a href=\"http:\/\/www.madrid.org\/cs\/Satellite?blobcol=urldata&amp;blobheader=application%2Fpdf&amp;blobheadername1=Content-disposition&amp;blobheadername2=cadena&amp;blobheadervalue1=filename%3DPrograma+jornada+Wolf+Hirschhorn.pdf&amp;blobheadervalue2=language%3Des%26site%3DPortalSalud&amp;blobkey=id&amp;blobtable=MungoBlobs&amp;blobwhere=1352937533347&amp;ssbinary=true\" target=\"_blank\">aqu\u00ed<\/a>.<\/p>\n<p>\u00daltima actualizaci\u00f3n: 9 de octubre de 2017.<\/p>\n<p>&nbsp;<\/p>\n<p>Fuente: FEDER <a href=\"https:\/\/enfermedades-raras.org\/index.php\/actualidad\/noticias-eventos\/2-feder\/8893-jornada-sobre-el-s%C3%ADndrome-de-wolf-hirschhorn-en-madrid\" target=\"_blank\">Inauguramos una Jornada sobre el SWH en Madrid<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Leemos en FEDER la siguiente noticia que os reproducimos de forma \u00edntegra: La I Jornada de Actualizaci\u00f3n en el S\u00edndrome de Wolf-Hirschhorn (SWH) se celebra el viernes, 13 de octubre, el Hospital Universitario La Paz de Madrid. Estaremos presente en el acto inaugural a trav\u00e9s de Juan Carri\u00f3n, Presidente de Feder y de su Fundaci\u00f3n. [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[36],"class_list":["post-3283","post","type-post","status-publish","format-standard","hentry","category-noticias","tag-enfermedades-raras"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Inauguramos una Jornada sobre el SWH en Madrid - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sindromecharge.es\/index.php\/2017\/10\/11\/inauguramos-una-jornada-sobre-el-swh-en-madrid-2\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Inauguramos una Jornada sobre el SWH en Madrid - Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Charge\" \/>\n<meta property=\"og:description\" content=\"Leemos en FEDER la siguiente noticia que os reproducimos de forma \u00edntegra: La I Jornada de Actualizaci\u00f3n en el S\u00edndrome de Wolf-Hirschhorn (SWH) se celebra el viernes, 13 de octubre, el Hospital Universitario La Paz de Madrid. 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