Atendiendo Necesidades: Enfermedades Raras

Película recomendada: "Frágiles (ver online)

<span style="font-family: "verdana" , sans-serif;"><span style="background-color: white; font-size: 16px;">"Pablo se enfrenta a uno de sus casos más difíciles: el de Mónica, una mujer con <b>Osteogénesis Imperfecta o “Huesos de Cristal” </b>dispuesta a desafiar al miedo y a sacrificar su salud y su matrimonio por ser madre.</span><br style="background-color: white; box-sizing: border-box; font-size: 16px;" /><br style="background-color: white; box-sizing: border-box; font-size: 16px;" /><span style="background-color: white; font-size: 16px;">Por otra parte, el fisioterapeuta ayuda a Teresa a enfrentarse a su mayor reto: comenzar a recuperar la movilidad de sus piernas. Lola neutraliza todos los intentos de Pablo para intentar tocarla. No soporta el contacto físico y tampoco tolera las mentiras. Mientras tanto, se siente cada vez más atraída hacia Nacho, el chico de la biblioteca. En el ámbito personal, Pilar está preocupada por Pablo y le anima a que rehaga su vida."</span></span><br />
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<span style="font-family: "verdana" , sans-serif;"><span style="background-color: white; font-size: 16px;"><b>PINCHA EN LA IMAGEN PARA VER LA PELÍCULA</b></span></span></div>
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<a href="http://www.dailymotion.com/video/xth6ba_fragiles-1x02-huesos-de-cristal-completo-parte-1-2_shortfilms" target="_blank"><img border="0" height="266" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjQM1dXxrecAtwOTUEs2ic_O0bY-KGCPLiZ4D50TQbMb7uHKZzGWCdtykYrNX4jhRYE6y_wHZl61a8_Ivd5PT0HHI859J7vxMlbmQ1KHYZj9PVt7AdvGXLLOz6O1wheWVoYcf7PbF3S2F0/s400/32206_blanca-portillo-embarazada-capitulo-huesos-de-cristal.jpg" width="400" /></a></div>
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<b>OTEOGÉNESIS IMPERFECTA O HUESOS DE CRISTAL</b></div>
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<span data-offset-key="e7r2m-0-0"><span style="font-family: "verdana" , sans-serif;">La Osteogénesis Imperfecta (OI) o Huesos de Cristal está presente al nacer. A menudo es causada por un defecto en un gen que produce el colágeno tipo 1, un pilar fundamental del hueso.</span></span></div>
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<span data-offset-key="5s35s-0-0"><span style="font-family: "verdana" , sans-serif;">Todas las personas con OI tienen huesos débiles, y son más propensas a sufrir fracturas. Las personas con OI con frecuencia tienen una estatura por debajo del promedio (estatura baja). Sin embargo, la gravedad de la enfermedad varía enormemente.</span></span></div>
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<span data-offset-key="c1s5d-0-0"><span style="font-family: "verdana" , sans-serif;">Los síntomas clásicos incluyen:</span></span></div>
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<span data-offset-key="e2ihq-0-0"><span style="font-family: "verdana" , sans-serif;">Tinte azul en la parte blanca de los ojos (esclerótica azul)</span></span></div>
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<span data-offset-key="7g7h0-0-0"><span style="font-family: "verdana" , sans-serif;">Fracturas óseas múltiples</span></span></div>
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<span data-offset-key="7j174-0-0"><span style="font-family: "verdana" , sans-serif;">Pérdida temprana de la audición (sordera)</span></span></div>
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<span data-offset-key="e2im-0-0"><span style="font-family: "verdana" , sans-serif;">La OI con frecuencia se sospecha en niños cuyos huesos se rompen con muy poca fuerza. Un examen físico puede mostrar que la esclerótica de los ojos tiene un tinte azul.</span></span></div>
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<span data-offset-key="66kv0-0-0"><span style="font-family: "verdana" , sans-serif;">No existe aún una cura para esta enfermedad; sin embargo, hay terapias específicas que pueden reducir el dolor y las complicaciones asociadas con la OI.</span></span></div>
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<span data-offset-key="6cn8-0-0" style="font-family: inherit;">Más Información <a href="https://medlineplus.gov/spanish/ency/article/001573.htm" target="_blank">AQUÍ</a>, en MedlinePlus.</span></div>
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"Pablo se enfrenta a uno de sus casos más difíciles: el de Mónica, una mujer con Osteogénesis Imperfecta o “Huesos de Cristal” dispuest...

Posted at 11:01 a. m. | Películas Diversidad Funcional |

Terrible el Síndrome de Patau

<span style="font-family: "verdana" , sans-serif;"><span style="background-color: white; color: #444444;">Es un trastorno genético en el cual una persona tiene 3 copias de material genético del </span><a href="https://medlineplus.gov/spanish/ency/article/002327.htm" id="anch_24" style="background-color: white; border: 0px; color: #a54b13; font-stretch: inherit; font-variant-numeric: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">cromosoma</a><span style="background-color: white; color: #444444;">13, en lugar de las 2 copias normales.</span></span><br />
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<span style="font-family: "verdana" , sans-serif;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEghVzOopYaU7gw9nWSeWmAMfgCydNjxOaA994LdysWuI2E5A84Inv7UDN5WeMrm-rJedT_FXDbEEVnPSWA9kC96uKLunoa0xSv3tPBGRMST4gsav-WWCoQf46sh37FxuZ4Xpmgy0DMz8ZQ/s1600/sindrome-de-patau-y-cri-duchat-1-638.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="300" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEghVzOopYaU7gw9nWSeWmAMfgCydNjxOaA994LdysWuI2E5A84Inv7UDN5WeMrm-rJedT_FXDbEEVnPSWA9kC96uKLunoa0xSv3tPBGRMST4gsav-WWCoQf46sh37FxuZ4Xpmgy0DMz8ZQ/s400/sindrome-de-patau-y-cri-duchat-1-638.jpg" width="400" /></a></span></div>
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<span style="font-family: "verdana" , sans-serif;"><span style="font-weight: inherit;">Los </span><b>síntomas </b><span style="font-weight: inherit;">incluyen:</span></span></div>
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<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="border: 0px; color: #a54b13; font-family: "verdana" , sans-serif; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;"><a href="https://medlineplus.gov/spanish/ency/article/001051.htm" id="anch_25" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">Labio leporino o paladar hendido</a></span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Manos empuñadas (con los dedos externos sobre los dedos internos)</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Ojos muy juntos: los ojos pueden de hecho fusionarse en 1</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Disminución del tono muscular</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Dedos adicionales en manos o pies (<a href="https://medlineplus.gov/spanish/ency/article/003176.htm" id="anch_26" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">polidactilia</a>)<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEju4ZXk-np6AKRPm31AUf2V0hhcjltVuw_P9astLoPCMukN9eZRwdWV5hjWpJg186G0V3zFsSeerFD8g0moItfrP0qhU-eXtXC6epQCKF6UEJeO_iGqDaId374CN0MWmgF1BLYhRmj2fZc/s1600/Sindrome-patau.png" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><br /></a></div>
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh86KttP9k5upj93PDaiUead4Oeuxrk7_YiI4MFfMMZy57xbviXDchPbybnYjiV4rM00XztgT-wD98yBjTz7ZIRasSvioVwfkCACqHXBiNe3Un6eFRVH8niMRTHDRoMC5cxcT-rp5xTlxQ/s1600/sindrome_patau.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh86KttP9k5upj93PDaiUead4Oeuxrk7_YiI4MFfMMZy57xbviXDchPbybnYjiV4rM00XztgT-wD98yBjTz7ZIRasSvioVwfkCACqHXBiNe3Un6eFRVH8niMRTHDRoMC5cxcT-rp5xTlxQ/s320/sindrome_patau.jpg" width="320" /></a> </span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Hernias: <a href="https://medlineplus.gov/spanish/ency/article/000987.htm" id="anch_27" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">hernia umbilical</a>, <a href="https://medlineplus.gov/spanish/ency/article/000960.htm" id="anch_28" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">hernia inguinal</a></span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Agujero, división o hendidura en el iris (<a href="https://medlineplus.gov/spanish/ency/article/003318.htm" id="anch_29" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">coloboma</a>)</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Orejas de implantación baja</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;"><a href="https://medlineplus.gov/spanish/ency/article/001523.htm" id="anch_30" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">Discapacidad intelectual</a> (grave)</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Defectos del cuero cabelludo (ausencia de piel)</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><a href="https://medlineplus.gov/spanish/ency/article/003200.htm" id="anch_31" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Convulsiones</span></a></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><a href="https://medlineplus.gov/spanish/ency/article/003290.htm" id="anch_32" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Pliegue palmar único</span></a></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><a href="https://medlineplus.gov/spanish/ency/article/003170.htm" id="anch_33" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Anomalías esqueléticas (extremidades)</span></a></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Ojos pequeños</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Cabeza pequeña (<a href="https://medlineplus.gov/spanish/ency/article/003272.htm" id="anch_34" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">microcefalia</a>)</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Mandíbula inferior pequeña (<a href="https://medlineplus.gov/spanish/ency/article/003306.htm" id="anch_35" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">micrognacia</a>)</span></li>
<li style="border: 0px; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: 1.28571em; margin: 0px 0px 0.85714em; padding: 0px; vertical-align: baseline;"><span style="font-family: "verdana" , sans-serif;">Testículo no descendido (<a href="https://medlineplus.gov/spanish/ency/article/000973.htm" id="anch_36" style="border: 0px; color: #a54b13; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; outline: 0px; padding: 0px; text-decoration: none; vertical-align: baseline;">criptorquidia</a>)<div class="separator" style="clear: both; text-align: center;">
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<span style="font-style: inherit; font-variant-caps: inherit; font-variant-ligatures: inherit; font-weight: inherit;">No hay ningún tratamiento específico para la trisomía 13. El tratamiento varía de un niño a otro y depende de los síntomas específicos.</span></div>
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<span style="font-family: "verdana" , sans-serif;">Más del 90% de los niños con trisomía 13 muere en el primer año.</span></div>
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<span style="font-family: "verdana" , sans-serif;">Las complicaciones se inician casi inmediatamente. La mayoría de los bebés con trisomía 13 tienen cardiopatía congénita.</span></div>
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<span style="font-family: "verdana" , sans-serif;">Fuente de la que se ha extraído la información:<a href="https://medlineplus.gov/spanish/ency/article/001660.htm" target="_blank"> MedlinePlus</a></span></div>
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Es un trastorno genético en el cual una persona tiene 3 copias de material genético del cromosoma 13, en lugar de las 2 copias normales. ...

Posted at 10:47 a. m. | Trastornos y síndromes Infantiles |

29 DE FEBRERO DE 2016, DÍA MUNDIAL DE LAS ENFERMEDADES RARAS

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<a href="http://www.enfermedades-raras.org/index.php/enfermedades-raras/listado-patologia" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;" target="_blank"><img border="0" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgF4IW9AJaWsIJrRYjTLdS9G80tyimsI3RfKsRDgTVrYWvY6awowyZj-LH-6uRAHfKS8nkbBKySCDVYNFEGd18r60-E8zWR4_baJIAU8eY_z1AdwCH43JU1ADvz5lCXFLeVF7weiOIXZag/s400/12794618_10207837826759058_5234322541146007874_n.jpg" width="400" /></a><span style="font-family: "verdana" , sans-serif;"><span style="background-color: white; color: #252525; line-height: 22.4px;">El </span><span style="background-color: white; color: #252525; line-height: 22.4px;">Día de las enfermedades raras</span><span style="background-color: white; color: #252525; line-height: 22.4px;"> es</span><span style="background-color: white; color: #252525; line-height: 22.4px;"> celebrado el último día del mes de febrero</span><span style="background-color: white; color: #252525; line-height: 22.4px;"> para crear conciencia sobre las </span><a class="mw-redirect" href="https://es.wikipedia.org/wiki/Enfermedades_raras" style="background-attachment: initial; background-clip: initial; background-color: white; background-image: none; background-origin: initial; background-position: initial; background-repeat: initial; background-size: initial; color: #0b0080; line-height: 22.4px; text-decoration: none;" title="Enfermedades raras">enfermedades raras</a><span style="background-color: white; color: #252525; line-height: 22.4px;"> y mejorar el acceso al tratamiento y a la representación médica de las personas con alguna enfermedad rara y sus familiares (Wikipedia).</span></span></div>
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<span style="background-color: white; color: #252525; line-height: 22.4px;"><span style="font-family: "verdana" , sans-serif;">Para ayudar a darles a conocer, comparto un listado con parte de alguna de las enfermedades raras existentes. Son las registradas por los socios de FEDER (Federación Española de Enfermedades Raras). </span></span><br />
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<span style="background-color: white; color: #252525; line-height: 22.4px;"><span style="font-family: "verdana" , sans-serif;">Ayúdanos a hacerles más visibles. </span></span><br />
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<span style="background-color: white; color: #252525; line-height: 22.4px;"><span style="font-family: "verdana" , sans-serif;"><b>PINCHA EN LA IMAGEN PARA ACCEDER AL LISTADO.</b></span></span></div>
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El Día de las enfermedades raras es celebrado el último día del mes de febrero para crear conciencia sobre las enfermedades raras y m...