{"id":788,"date":"2017-02-26T18:53:03","date_gmt":"2017-02-26T18:53:03","guid":{"rendered":"https:\/\/www.progeriaresearch.org\/?page_id=788"},"modified":"2023-09-21T12:51:17","modified_gmt":"2023-09-21T16:51:17","slug":"medical-database","status":"publish","type":"page","link":"https:\/\/www.progeriaresearch.org\/es\/medical-database\/","title":{"rendered":"Base de datos m\u00e9dica"},"content":{"rendered":"<p>[et_pb_section fb_built=\u201d1\u2033 fullwidth=\u201don\u201d deshabilitado_encendido=\u201dapagado|apagado|apagado\u201d _builder_version=\u201d4.16\u2033 border_width_bottom=\u201d55px\u201d border_color_bottom=\u201d#29327a\u201d bloqueado=\u201dapagado\u201d global_colors_info=\u201d{}\u201d][et_pb_fullwidth_header _builder_version=\u201d4.16\u2033 t\u00edtulo_fuente=\u201d||||||||\u201d title_font_size=\u201d55\u2033 background_color=\u201d#29327a\u201d background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2020\/12\/Jes.jpg\u201d background_position=\u201dcenter_left\u201d custom_padding=\u201d11.5vw||11.5vw||true\u201d custom_padding_tablet=\u201d\u201d custom_padding_phone=\u201d|56px||\u201d custom_padding_last_edited=\u201don|desktop\u201d title_font_size_tablet=\u201d45px\u201d title_font_size_phone=\u201d40px\u201d title_font_size_last_edited=\u201don|phone\u201d z_index_tablet=\u201d500\u2033 custom_css_main_element=\u201dbackground-position: center 18% !important;\u201d global_colors_info=\u201d{}\u201d]<\/p>\n<h1 class=\"vc_custom_heading\" data-fontsize=\"34\" data-lineheight=\"48\">M\u00e9dico <br \/>Base de datos<\/h1>\n<p>[\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 specialist=\u201don\u201d padding_left_1=\u201d35px\u201d padding_left_2=\u201d35px\u201d padding_2_tablet=\u201d|||0px\u201d padding_2_phone=\u201d|||0px\u201d padding_2_last_edited=\u201don|desktop\u201d module_class_1=\u201dbarra lateral-navegaci\u00f3n-secundaria\u201d module_class=\u201dhuella-de-mano-bg\u201d _builder_version=\u201d4.16\u2033 background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/huella-de-mano-azul-solamente.png\u201d parallax=\u201don\u201d parallax_method=\u201doff\u201d ancho_interior=\u201d100%\u201d ancho_m\u00e1ximo_interior=\u201d100%\u201d relleno_personalizado=\u201d0|0px|54px|0px|falso|falso\u201d z_index_tablet=\u201d500\u2033 ancho_borde_superior=\u201d10px\u201d color_border_superior=\u201d#8fd2ed\u201d uso_ancho_personalizado=\u201dactivado\u201d unidad_ancho=\u201ddesactivado\u201d porcentaje_ancho_personalizado=\u201d100%\u201d informaci\u00f3n_colores_globales=\u201d{}\u201d][et_pb_column tipo=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 relleno_personalizado=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_sidebar area=\u201det_pb_widget_area_1\u2033 deshabilitado_en=\u201dencendido|encendido|apagado\u201d module_class=\u201dsubpage-sidebars\u201d _builder_version=\u201d4.16\u2033 animation_style=\u201ddesvanecimiento\u201d z_index_tablet=\u201d500\u2033 border_width_right=\u201d5px\u201d bloqueado=\u201dapagado\u201d global_colors_info=\u201d{}\u201d]<br \/>\n[\/et_pb_sidebar][\/et_pb_column][et_pb_column tipo=\u201d3_4\u2033 columnas_especializadas=\u201d3\u2033 _builder_version=\u201d4.16\u2033 relleno_personalizado=\u201d|||\u201d informaci\u00f3n_de_colores_globales=\u201d{}\u201d relleno_personalizado__hover=\u201d|||\u201d][et_pb_row_inner _builder_version=\u201d4.16\u2033 color_de_fondo=\u201d#00b2e2\u2033 margen_personalizado=\u201d41px||\u201d margen_personalizado_tablet=\u201d0px||\u201d custom_margin_phone=\u201d\u201d custom_margin_last_edited=\u201don|phone\u201d custom_padding=\u201d39.4375px|20px|0|20px|false|true\u201d animation_style=\u201dslide\u201d animation_direction=\u201dtop\u201d animation_intensity_slide=\u201d25%\u201d box_shadow_style=\u201dpreset1\u2033 box_shadow_blur=\u201d38px\u201d box_shadow_spread=\u201d-12px\u201d blocking=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner save_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201d\u00bfQu\u00e9 es la Base de Datos M\u00e9dica y de Investigaci\u00f3n Internacional?\u201d _builder_version=\u201d4.16\u2033 header_2_line_height=\u201d1.2em\u201d background_layout=\u201doscuro\u201d custom_margin=\u201d||35px\u201d custom_padding=\u201d|||\u201d padding_tablet_personalizado=\u201d|50px||50px||verdadero\u201d padding_tel\u00e9fono_personalizado=\u201d\u201d padding_\u00faltima_edici\u00f3n=\u201den|escritorio\u201d tama\u00f1o_fuente_tableta_encabezado=\u201d\u201d tama\u00f1o_fuente_tel\u00e9fono_encabezado=\u201d\u201d tama\u00f1o_fuente_\u00faltima_edici\u00f3n=\u201den|escritorio\u201d tama\u00f1o_fuente_tableta_encabezado=\u201d25px\u201d tama\u00f1o_fuente_tel\u00e9fono_encabezado=\u201d2_fuente_\u00faltima_edici\u00f3n=\u201den|tableta\u201d tama\u00f1o_fuente_tableta_encabezado=\u201d4_fuente_tel\u00e9fono_encabezado=\u201d19px\u201d tama\u00f1o_fuente_\u00faltima_edici\u00f3n=\u201den|tel\u00e9fono\u201d altura_l\u00ednea_tableta_encabezado=\u201d4_fuente_tel\u00e9fono_encabezado=\u201d1.2em\u201d altura_l\u00ednea_\u00faltima_edici\u00f3n=\u201den|tel\u00e9fono\u201d z_index_tablet=\u201d500\u2033 informaci\u00f3n_colores_globales=\u201d{}\u201d]<\/p>\n<h2 style=\"text-align: center;\"><strong>\u00bfQu\u00e9 es la Base de Datos Internacional M\u00e9dica y de Investigaci\u00f3n?<\/strong><\/h2>\n<p>[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner custom_padding_last_edited=\u201don|phone\u201d _builder_version=\u201d4.16\u2033 custom_margin=\u201d||20px\u201d custom_padding=\u201d|35px|0|0px|false|false\u201d custom_padding_tablet=\u201d|35px||35px||true\u201d custom_padding_phone=\u201d\u201d animation_direction=\u201dtop\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner save_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text _builder_version=\u201d4.17.4\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201drepeat\u201d global_colors_info=\u201d{}\u201d]<\/p>\n<p>Recopilamos los registros m\u00e9dicos de ni\u00f1os con progeria de todo el mundo. Luego, analizamos todos los aspectos de la atenci\u00f3n m\u00e9dica que se les ha brindado a los ni\u00f1os. Realizamos an\u00e1lisis estad\u00edsticos y analizamos qu\u00e9 tratamientos han funcionado para mantener la calidad de vida y qu\u00e9 tratamientos no han funcionado. La mayor\u00eda de los m\u00e9dicos solo han visto a un ni\u00f1o con progeria y no est\u00e1n seguros de qu\u00e9 hacer cuando el ni\u00f1o necesita cosas como medicamentos para el coraz\u00f3n, anestesia y fisioterapia adecuada. Tenemos la capacidad de brindar asesoramiento a los m\u00e9dicos y sus familias en funci\u00f3n de este programa de base de datos.<\/p>\n<p>La Fundaci\u00f3n para la Investigaci\u00f3n de la Progeria est\u00e1 colaborando con el Centro de Investigaci\u00f3n en Gerontolog\u00eda y Atenci\u00f3n Sanitaria de la Universidad Brown en este maravilloso proyecto. El Centro Brown tiene muchos a\u00f1os de experiencia en la creaci\u00f3n y an\u00e1lisis de bases de datos de atenci\u00f3n sanitaria.<\/p>\n<p>Tambi\u00e9n utilizamos los registros m\u00e9dicos para comprender mejor las causas de la progeria, lo que sirve como punto de partida para nuevas investigaciones sobre la progeria y las enfermedades asociadas al envejecimiento, como las enfermedades card\u00edacas. Esto puede dar pistas para nuevos tratamientos para los ni\u00f1os y para todos nosotros.<\/p>\n<p>Nunca ha existido una base de datos centralizada sobre progeria infantil de la que se pueda extraer informaci\u00f3n sobre la atenci\u00f3n sanitaria. Esto ha dado lugar a malos tratos cl\u00ednicos involuntarios de los pacientes, diagn\u00f3sticos err\u00f3neos y diagn\u00f3sticos tard\u00edos, simplemente porque los cuidadores no saben qu\u00e9 estrategias m\u00e9dicas han dado resultado con otros ni\u00f1os con progeria y cu\u00e1les no. El objetivo de este proyecto es recopilar los registros sanitarios de los ni\u00f1os con progeria y desarrollar una base de datos sanitaria centralizada para que la utilicen los profesionales sanitarios, los investigadores m\u00e9dicos y las familias de los ni\u00f1os con progeria.<\/p>\n<h4><strong>Objetivos de la base de datos<\/strong><\/h4>\n<ul>\n<li>Describir en detalle qu\u00e9 estrategias de tratamiento han tenido \u00e9xito y qu\u00e9 tratamientos han fracasado para los problemas m\u00e9dicos que enfrentan los ni\u00f1os con HGPS. Esto puede ayudar a las familias y a sus m\u00e9dicos a comprender c\u00f3mo cuidar mejor a los ni\u00f1os con progeria.<\/li>\n<li>Proporcionar recomendaciones de atenci\u00f3n m\u00e9dica a las familias en un lenguaje no m\u00e9dico sobre los temas que son importantes para la calidad de vida de los ni\u00f1os con HGPS.<\/li>\n<li>La base de datos es un recurso para obtener nuevos conocimientos sobre la naturaleza del HGPS y de otras enfermedades como la aterosclerosis, lo que a su vez servir\u00e1 para estimular el avance de nuevos proyectos de investigaci\u00f3n.<\/li>\n<\/ul>\n<h4><strong>Aprobaciones de la Junta de Revisi\u00f3n Institucional:<\/strong><\/h4>\n<p>La base de datos m\u00e9dica y de investigaci\u00f3n de PRF est\u00e1 aprobada por la Junta de Revisi\u00f3n Institucional (IRB) del Rhode Island Hospital y los Comit\u00e9s de Protecci\u00f3n de Sujetos Humanos de la Universidad de Brown. Rhode Island Hospital Federal Wide Assurance FWA00001230, Estudio CMTT# 0152-01, Brown University Federal Wide Assurance FWA 00004460, Estudio CMTT# 0211991243<\/p>\n<h4 style=\"font-weight: 400;\"><strong>Uso de materiales en publicaciones:<\/strong><\/h4>\n<p style=\"font-weight: 400;\">En todas las publicaciones que resulten del uso de la informaci\u00f3n obtenida de la base de datos m\u00e9dica y de investigaci\u00f3n de la Fundaci\u00f3n para la Investigaci\u00f3n de la Progeria, los investigadores deben incluir la siguiente cita en la secci\u00f3n de materiales y m\u00e9todos (no solo en los agradecimientos). Esta redacci\u00f3n puede variar levemente, seg\u00fan la informaci\u00f3n que se haya suministrado para la investigaci\u00f3n.<\/p>\n<p style=\"font-weight: 400;\">\u201cLa informaci\u00f3n cl\u00ednica an\u00f3nima se obtuvo de la base de datos m\u00e9dica y de investigaci\u00f3n de la Progeria Research Foundation (PRF) (<a href=\"https:\/\/www.progeriaresearch.org\/es\/\" data-saferedirecturl=\"https:\/\/www.google.com\/url?q=https:\/\/www.progeriaresearch.org&amp;source=gmail&amp;ust=1656539975208000&amp;usg=AOvVaw2-Ugfzc0IoTq-jMG-qMW0F\">www.progeriaresearch.org<\/a>).\u201d<\/p>\n<p>&nbsp;<\/p>\n<p>[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 _builder_version=\u201d4.16\u2033 background_color=\u201d#29327a\u201d custom_padding=\u201d40px|35px|35.2344px|35px|false|true\u201d animation_style=\u201dslide\u201d animation_direction=\u201dright\u201d animation_intensity_slide=\u201d25%\u201d border_width_bottom=\u201d10px\u201d border_color_bottom=\u201d#8fd2ed\u201d lock=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner save_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201dPublicaciones derivadas de la base de datos m\u00e9dica y de investigaci\u00f3n de la Fundaci\u00f3n de Investigaci\u00f3n de Progeria\u201d _builder_version=\u201d4.16\u2033 header_text_align=\u201dcenter\u201d header_text_color=\u201d#ffffff\u201d background_layout=\u201ddark\u201d animation_style=\u201dfade\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d30px\u201d header_font_size_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n<h2 style=\"text-align: center;\"><strong>Publicaciones derivadas de la base de datos m\u00e9dica y de investigaci\u00f3n de la Fundaci\u00f3n para la Investigaci\u00f3n de la Progeria<\/strong><\/h2>\n<p>\u00a0<\/p>\n<p>[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner estructura_columna=\u201d1_2,1_2\u2033 relleno_personalizado_\u00faltima_edici\u00f3n=\u201den|tel\u00e9fono\u201d relleno_izquierdo_derecho_enlace_1=\u201dfalso\u201d relleno_izquierdo_derecho_enlace_2=\u201dfalso\u201d _builder_version=\u201d4.16\u2033 relleno_personalizado=\u201d|35px|0|0px|falso|falso\u201d relleno_tableta=\u201d|35px||35px||verdadero\u201d relleno_personalizado_tel\u00e9fono=\u201d\u201d direcci\u00f3n_animaci\u00f3n=\u201darriba\u201d ancho_borde_inferior=\u201d10px\u201d color_border_inferior=\u201d#8fd2ed\u201d informaci\u00f3n_colores_global=\u201d{}\u201d][et_pb_column_inner tipo=\u201d1_2\u2033 tipo_columna_especial_guardada=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 relleno_personalizado=\u201d|20px||\u201d informaci\u00f3n_colores_globales=\u201d{}\u201d relleno_personalizado__hover=\u201d|||\u201d][et_pb_text _builder_version=\u201d4.16\u2033 informaci\u00f3n_colores_globales=\u201d{}\u201d]<\/p>\n<p>La base de datos m\u00e9dica y de investigaci\u00f3n de la Fundaci\u00f3n para la Investigaci\u00f3n de la Progeria ha contribuido a las siguientes publicaciones m\u00e9dicas:<\/p>\n<p><strong>Manual de atenci\u00f3n cl\u00ednica<\/strong><\/p>\n<p><em>El manual de la progeria: una gu\u00eda para familias y proveedores de atenci\u00f3n m\u00e9dica de ni\u00f1os con progeria.<\/em> Gordon, Leslie B., editora ejecutiva. Copyright 2019 de The Progeria Research Foundation. Todos los derechos reservados.<\/p>\n<p>\u00a0La primera edici\u00f3n del manual est\u00e1 disponible en espa\u00f1ol y portugu\u00e9s. Las traducciones de la segunda edici\u00f3n del manual en espa\u00f1ol y portugu\u00e9s se publicar\u00e1n cuando est\u00e9n disponibles.<\/p>\n<p>&nbsp;<\/p>\n<p>[\/et_pb_text][\/et_pb_column_inner][et_pb_column_inner type=\u201d1_2\u2033 save_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||15px\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_button button_url=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/01\/Handbook-2018-PDF-One-File-v3-1.pdf\u201d url_new_window=\u201don\u201d button_text=\u201d2.\u00aa edici\u00f3n \u2013 Ingl\u00e9s\u201d button_alignment=\u201dcenter\u201d admin_label=\u201d2.\u00aa edici\u00f3n \u2013 Ingl\u00e9s\u201d _builder_version=\u201d4.16\u2033 background_layout=\u201ddark\u201d margen_personalizado=\u201d||20px\u201d estilo_animaci\u00f3n=\u201ddiapositiva\u201d direcci\u00f3n_animaci\u00f3n=\u201dderecha\u201d intensidad_animaci\u00f3n_diapositiva=\u201d25%\u201d \u00edndice_z_tablet=\u201d500\u2033 elemento_principal_css_personalizado=\u201dancho: 70%;\u201d informaci\u00f3n_global_colores=\u201d{}\u201d]<br \/>\n[\/et_pb_button][et_pb_button button_url=&#8221;https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/PRF%20Handbook%20Spanish.pdf&#8221; url_new_window=&#8221;on&#8221; button_text=&#8221;1st Edition &#8211; Spanish&#8221; button_alignment=&#8221;center&#8221; admin_label=&#8221;1st Edition &#8211; Spanish&#8221; _builder_version=&#8221;4.16&#8243; background_layout=&#8221;dark&#8221; custom_margin=&#8221;||20px&#8221; animation_style=&#8221;slide&#8221; animation_direction=&#8221;right&#8221; animation_intensity_slide=&#8221;25%&#8221; z_index_tablet=&#8221;500&#8243; custom_css_main_element=&#8221;width: 70%;&#8221; global_colors_info=&#8221;{}&#8221;]<br \/>\n[\/et_pb_button][et_pb_button button_url=\u201dhttps:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/Manual\u2014Portugu\u00e9s.pdf\u201d button_text=\u201d1.\u00aa Edici\u00f3n \u2013 Portugu\u00e9s\u201d button_alignment=\u201dcenter\u201d admin_label=\u201d1.\u00aa Edici\u00f3n \u2013 Portugu\u00e9s\u201d _builder_version=\u201d4.16\u2033 background_layout=\u201ddark\u201d custom_margin=\u201d||20px\u201d animation_style=\u201dslide\u201d animation_direction=\u201dright\u201d animation_intensity_slide=\u201d25%\u201d z_index_tablet=\u201d500\u2033 custom_css_main_element=\u201dwidth: 70%;\u201d global_colors_info=\u201d{}\u201d]<br \/>\n[\/et_pb_button][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner custom_padding_last_edited=\u201don|phone\u201d _builder_version=\u201d4.16\u2033 custom_padding=\u201d0|35px|0|0px|false|false\u201d custom_padding_tablet=\u201d|35px||35px||true\u201d custom_padding_phone=\u201d\u201d animation_direction=\u201dtop\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner save_specialty_column_type=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201dArt\u00edculos de revistas\u201d _builder_version=\u201d4.17.6\u2033 background_size=\u201dinitial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201drepeat\u201d z_index_tablet=\u201d500\u2033 global_colors_info=\u201d{}\u201d]<\/p>\n<h4><strong>Art\u00edculos de revistas<\/strong><\/h4>\n<p class=\"m_5556619090296294739MsoNoSpacing\"><strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35752705\/\" target=\"_blank\" data-saferedirecturl=\"https:\/\/www.google.com\/url?q=https:\/\/pubmed.ncbi.nlm.nih.gov\/35752705\/&amp;source=gmail&amp;ust=1658414740427000&amp;usg=AOvVaw3JN2-5dxsoBxFs9Lk6gXDY\" rel=\"noopener\">La hematopoyesis clonal no es frecuente en el s\u00edndrome de progeria de Hutchinson-Gilford<\/a><\/strong><br \/><span><u><\/u><u><\/u><\/span><span>D\u00edez-D\u00edez M, Amor\u00f3s-P\u00e9rez M, de la Barrera J, et al. [publicado en l\u00ednea antes de la impresi\u00f3n, 25 de junio de 2022]. Gerociencia. 2022;10.1007\/s11357-022-00607-<wbr \/>2.doi:10.1007\/s11357-022-00607-2<\/span><\/p>\n<p><strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29710166\/?from_term=Gordon+LB+Association+of+&amp;from_pos=1\" target=\"_blank\" rel=\"noopener noreferrer\">Asociaci\u00f3n del tratamiento con lonafarnib frente a ning\u00fan tratamiento con la tasa de mortalidad en pacientes con s\u00edndrome de progeria de Hutchinson-Gilford.<\/a><\/strong><br \/>Gordon LB, Shappell H, Massaro J, D&#039;Agostino RB Sr, Brazier J, Campbell SE, Kleinman ME, Kieran MW.Gordon LB, et al. JAMA. 24 de abril de 2018;319(16):1687-1695. doi: 10.1001\/jama.2018.3264.<\/p>\n<p><strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30450527\/?from_term=lessel+d&amp;from_page=4&amp;from_pos=4\" target=\"_blank\" rel=\"noopener noreferrer\">Los an\u00e1lisis de casos de progeroides juveniles LMNA negativos confirman mutaciones bial\u00e9licas POLR3A en el s\u00edndrome similar a Wiedemann-Rautenstrauch y ampl\u00edan el espectro fenot\u00edpico de mutaciones PYCR1.<\/a><\/strong><br \/>Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Sz\u0151ll\u0151s A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, N\u00fcrnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB.Lessel D, et al. Hum Genet. 2018 diciembre;137(11-12):921-939. doi: 10.1007\/s00439-018-1957-1. Publicaci\u00f3n electr\u00f3nica del 19 de noviembre de 2018. Hum Genet. 2018. PMID: 30450527<\/p>\n<p><strong><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29581305\/?from_term=dubose+a&amp;from_pos=1\" target=\"_blank\" rel=\"noopener noreferrer\">Everolimus rescata m\u00faltiples defectos celulares en fibroblastos de pacientes con laminopat\u00eda. <\/a><\/strong><br \/>DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS. DuBose AJ, et al. Proc Natl Acad Sci US A. 17 de abril de 2018;115(16):4206-4211. doi: 10.1073\/pnas.1802811115. Publicaci\u00f3n electr\u00f3nica 26 de marzo de 2018. Proc Natl Acad Sci US A. 2018. PMID: 29581305<\/p>\n<p><strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28756152\" target=\"_blank\" rel=\"noopener noreferrer\">Caracter\u00edsticas oftalmol\u00f3gicas de la progeria.<br \/><\/a><\/strong>Mantagos IS, Kleinman ME, Kieran MW, Gordon LB.<br \/>Am J Ophthalmol. 27 de julio de 2017. pii: S0002-9394(17)30317-3. doi: 10.1016\/j.ajo.2017.07.020. [Publicaci\u00f3n electr\u00f3nica antes de su impresi\u00f3n]<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27920058\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Una nueva mutaci\u00f3n som\u00e1tica logra un rescate parcial en un ni\u00f1o con s\u00edndrome de progeria de Hutchinson-Gilford.<\/strong><br \/><\/a>Bar DZ, Arlt MF, Brazier JF, Norris WE, Campbell SE, Chines P, Larrieu D, Jackson SP, Collins FS, Glover TW, Gordon LB.<br \/>J Med Genet. Marzo de 2017;54(3):212-216. doi: 10.1136\/jmedgenet-2016-104295. Publicaci\u00f3n electr\u00f3nica del 5 de diciembre de 2016.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27799555\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Defectos el\u00e9ctricos card\u00edacos en ratones progeroides y pacientes con s\u00edndrome de progeria de Hutchinson-Gilford con alteraciones de la l\u00e1mina nuclear.<\/strong><br \/><\/a>Rivera-Torres J, Calvo CJ, Llach A, Guzm\u00e1n-Mart\u00ednez G, Caballero R, Gonz\u00e1lez-G\u00f3mez C, Jim\u00e9nez-Borreguero LJ, Guadix JA, Osorio FG, L\u00f3pez-Ot\u00edn C, Herraiz-Mart\u00ednez A, Cabello N, Vallmitjana A , Ben\u00edtez R, Gordon LB, Jalife J, P\u00e9rez-Pomares JM, Tamargo J, Delp\u00f3n E, Hove-Madsen L, Filgueiras-Rama D, Andr\u00e9s V.<br \/>Proc Natl Acad Sci US A. 15 de noviembre de 2016;113(46):E7250-E7259. Publicaci\u00f3n electr\u00f3nica 31 de octubre de 2016.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27400896\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Ensayo cl\u00ednico de los inhibidores de la farnesilaci\u00f3n de prote\u00ednas lonafarnib, pravastatina y \u00e1cido zoledr\u00f3nico en ni\u00f1os con s\u00edndrome de progeria de Hutchinson-Gilford.<\/strong><br \/><\/a>Gordon LB, Kleinman ME, Massaro J, D&#039;Agostino RB Sr, Shappell H, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland RH, Nazarian A, Snyder BD, Ullrich NJ, Silvera VM, Liang MG, Quinn N, Miller DT, Huh SY, Dowton AA, Littlefield K, Greer MM, Kieran MW.<br \/>Circulaci\u00f3n. 12 de julio de 2016;134(2):114-25. doi: 10.1161\/CIRCULATIONAHA.116.022188.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26564085\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>S\u00edndrome de progeria de Hutchinson-Gilford.<\/strong><br \/><\/a>Ullrich, Nueva Jersey; Gordon, LB.<br \/>Manual Clin Neurol. 2015;132:249-64.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24795390\"><strong>Impacto de los inhibidores de la farnesilaci\u00f3n en la supervivencia en el s\u00edndrome de progeria de Hutchinson-Gilford.<\/strong><br \/><\/a>Gordon LB, Massaro J, D&#039;Agostino RB Sr, Campbell SE, Brazier J, Brown WT, Kleinman ME, Kieran MW; Colaboraci\u00f3n en ensayos cl\u00ednicos de progeria.<br \/>Circulaci\u00f3n. 1 de julio de 2014;130(1):27-34. doi: 10.1161\/CIRCULATIONAHA.113.008285. Publicaci\u00f3n electr\u00f3nica 2 de mayo de 2014.<\/p>\n<p><strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24456199\">Manifestaciones cut\u00e1neas iniciales del s\u00edndrome de progeria de Hutchinson-Gilford.<\/a>\u00a0<\/strong>Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Pediatr Dermatol. 24 de enero de 2014: 1-7. doi: 10.1111\/pde.12284.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23897869\"><b>Neurol\u00f3gico<\/b>\u00a0<b>caracter\u00edsticas<\/b>\u00a0de\u00a0<b>Hutchinson-Gilford<\/b>\u00a0S\u00edndrome de progeria despu\u00e9s del tratamiento con lonafarnib.<br \/><\/a>Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, Giobbie-Hurder A, Neuberg D, Kleinman ME. <i>Neurolog\u00eda<\/i>. 30 de julio de 2013;81(5):427-30. doi: 10.1212\/WNL.0b013e31829d85c0. Publicado electr\u00f3nicamente el 28 de junio de 2013.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23179651\"><b>Im\u00e1genes<\/b>\u00a0<b>caracter\u00edsticas<\/b>\u00a0de\u00a0<b>cerebrovascular<\/b>\u00a0<b>arteriopat\u00eda<\/b>\u00a0y\u00a0<b>ataque<\/b>\u00a0en el s\u00edndrome de progeria de Hutchinson-Gilford.<\/a> Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ.<br \/><i>AJNR Am J Neuroradiol<\/i>. Mayo de 2013;34(5):1091-7. doi: 10.3174\/ajnr.A3341. Publicado electr\u00f3nicamente el 22 de noviembre de 2012.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22460337\"><b>Anomal\u00edas craneofaciales<\/b>\u00a0en\u00a0<b>Hutchinson<\/b>-S\u00edndrome de progeria de Gilford.<br \/><\/a>Ullrich Nueva Jersey, Silvera VM, Campbell SE, Gordon LB. <i>AJNR Am J Neuroradiol<\/i>. Septiembre de 2012; 33(8):1512-8. doi: 10.3174\/ajnr.A3088. Publicaci\u00f3n electr\u00f3nica del 29 de marzo de 2012.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23012407\"><b>Ensayo cl\u00ednico<\/b>\u00a0de un\u00a0<b>farnesiltransferasa<\/b>\u00a0<b>inhibidor<\/b>\u00a0en\u00a0<b>ni\u00f1os<\/b>\u00a0con\u00a0<b>Hutchinson<\/b>-S\u00edndrome de progeria de Gilford.<\/a> Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW. <i>Proc Natl Acad Sci Estados Unidos<\/i>. 9 de octubre de 2012;109(41):16666-71. doi: 10.1073\/pnas.1202529109. Publicaci\u00f3n electr\u00f3nica 24 de septiembre de 2012<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22083160\"><b>Mecanismos<\/b>\u00a0de\u00a0<b>prematuro<\/b>\u00a0<b>vascular<\/b>\u00a0<b>envejecimiento<\/b>\u00a0en\u00a0<b>ni\u00f1os<\/b>\u00a0con\u00a0<b>Hutchinson<\/b>-S\u00edndrome de progeria de Gilford.<\/a> Gerhard-Herman M, Smoot LB, Wake N, Kieran MW, Kleinman ME, Miller DT, Schwartzman A, Giobbie-Hurder A, Neuberg D, Gordon LB. <i>Hipertensi\u00f3n<\/i>. 2012 Ene;59(1):92-7. doi: 10.1161\/HYPERTENSIONAHA.111.180919. Publicado electr\u00f3nicamente el 14 de noviembre de 2011.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22752073\"><strong>Un estudio prospectivo de las manifestaciones radiogr\u00e1ficas en el s\u00edndrome de progeria de Hutchinson-Gilford.<\/strong><br \/><\/a>Cleveland LD, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD, Nazarian A, Giobbie-Hurder A, Neuberg D, Kieran MW. <i>Radiolog\u00eda pedi\u00e1trica<\/i>. 2012 Sep;42(9):1089-98. doi: 10.1007\/s00247-012-2423-1. Publicaci\u00f3n electr\u00f3nica 1 de julio de 2012.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21980471\"><b>Bajo<\/b>\u00a0y\u00a0<b>alto<\/b>\u00a0<b>expresando<\/b>\u00a0<b>alelos<\/b>\u00a0del gen LMNA: implicaciones para el desarrollo de la enfermedad laminopat\u00eda.<\/a> Rodr\u00edguez S, Eriksson M. <i>PLoS Uno<\/i>. 2011;6(9):e25472. doi: 10.1371\/journal.pone.0025472. Publicado electr\u00f3nicamente el 29 de septiembre de 2011.<br \/><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21445982\"><b><br \/>Hutchinson-Gilford<\/b>\u00a0<b>progeria<\/b>\u00a0es un\u00a0<b>esquel\u00e9tico<\/b>\u00a0displasia.<\/a> Espa\u00f1ol Gordon CM, Gordon LB, Snyder BD, Nazarian A, Quinn N, Huh S, Giobbie-Hurder A, Neuberg D, Cleveland R, Kleinman M, Miller DT, Kieran MW. <i>Minero de huesos J. Res.<\/i>. Julio de 2011; 26(7):1670-9. doi: 10.1002\/jbmr.392.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20798379\"><b>Patolog\u00eda cardiovascular<\/b>\u00a0en\u00a0<b>Hutchinson<\/b>-Progeria de Gilford: correlaci\u00f3n con el sistema vascular<b>patolog\u00eda<\/b>\u00a0del envejecimiento.<\/a> Olive M, Harten I, Mitchell R, Beers JK, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. <i>Arterioesclerosis Trombosis Vascular Biolog\u00eda<\/i>. 2010 Nov;30(11):2301-9. doi: 10.1161\/ATVBAHA.110.209460. Publicaci\u00f3n electr\u00f3nica 26 de agosto de 2010.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19236595\"><b>Hutchinson-Gilford<\/b>\u00a0<b>progeria<\/b>\u00a0<b>s\u00edndrome<\/b>:\u00a0<b>oral<\/b>\u00a0y fenotipos craneofaciales.<\/a> Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. <i>Oral<\/i><i>\u00a0<\/i><i>Des<\/i>. Abr. 2009;15(3):187-95. doi: 10.1111\/j.1601-0825.2009.01521.x. Publicado electr\u00f3nicamente el 19 de febrero de 2009.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18334552\"><b>Dirigido<\/b>\u00a0<b>transg\u00e9nico<\/b>\u00a0<b>expresi\u00f3n<\/b>\u00a0del\u00a0<b>mutaci\u00f3n<\/b>\u00a0<b>causando<\/b>\u00a0El s\u00edndrome de progeria de Hutchinson-Gilford conduce a una enfermedad epid\u00e9rmica proliferativa y degenerativa.<\/a> Sagelius H, Rosengardten Y, Hanif M, Erdos MR, Rozell B, Collins FS, Eriksson M. <i>Revista cient\u00edfica de c\u00e9lulas J.<\/i>. 1 de abril de 2008;121(Pt 7):969-78. doi: 10.1242\/jcs.022913. Publicaci\u00f3n electr\u00f3nica 11 de marzo de 2008.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18708427\"><b>Reversible<\/b>\u00a0<b>fenotipo<\/b>\u00a0En un\u00a0<b>rat\u00f3n<\/b>\u00a0Modelo del s\u00edndrome de progeria de Hutchinson-Gilford.<br \/><\/a>Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. <i>J. Med. Gen\u00e9tica<\/i>. Diciembre de 2008; 45(12):794-801. doi: 10.1136\/jmg.2008.060772. Publicaci\u00f3n electr\u00f3nica del 15 de agosto de 2008.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18256394\"><b>Fenotipo<\/b>\u00a0y\u00a0<b>curso<\/b>\u00a0de\u00a0<b>Hutchinson<\/b>-S\u00edndrome de progeria de Gilford.<\/a> Espa\u00f1ol: Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. <i>N.\u00ba de Engl. J. Med.<\/i>. 7 de febrero de 2008; 358 (6): 592-604. doi: 10.1056\/NEJMoa0706898.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908771\"><b>Nuevo<\/b>\u00a0<b>aproches<\/b>\u00a0a\u00a0<b>progeria<\/b>.<\/a> Kieran MW, Gordon L, Kleinman M. Pediatrics. 2007 Oct;120(4):834-41. Revisi\u00f3n. Fe de erratas en: <i>Pediatr\u00eda<\/i>. Diciembre de 2007;120(6):1405.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908770\"><b>Progresi\u00f3n de la enfermedad<\/b>\u00a0en\u00a0<b>Hutchinson-Gilford<\/b>\u00a0S\u00edndrome de progeria: impacto en el crecimiento y el desarrollo.<\/a> Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD, Kieran MW. <i>Pediatr\u00eda<\/i>. Octubre de 2007;120(4):824-33.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15756215\"><b>Reducido<\/b>\u00a0<b>adiponectina<\/b>\u00a0y\u00a0<b>Colesterol HDL<\/b>\u00a0sin\u00a0<b>elevado<\/b>\u00a0<b>Prote\u00edna C reactiva<\/b>:pistas sobre la biolog\u00eda de la aterosclerosis prematura en el s\u00edndrome de progeria de Hutchinson-Gilford.<\/a> Gordon LB, Harten IA, Patti ME, Lichtenstein AH. <i>J Pediatr<\/i>. Marzo de 2005;146(3):336-41.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16129833\"><b>Inhibiendo<\/b>\u00a0<b>farnesilaci\u00f3n<\/b>\u00a0La progerina previene la formaci\u00f3n de ampollas nucleares caracter\u00edstica de Hutchinson-Gilford.\u00a0<b>progeria<\/b>\u00a0s\u00edndrome.<\/a> Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. <i>Proc Natl Acad Sci Estados Unidos<\/i>6 de septiembre de 2005;102(36):12879-84. Publicaci\u00f3n electr\u00f3nica 29 de agosto de 2005<\/p>\n<p class=\"details\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15184648\"><b>Acumulaci\u00f3n<\/b>\u00a0de\u00a0<b>mutant<\/b>\u00a0<b>l\u00e1mina A<\/b>\u00a0<b>causas<\/b>\u00a0Cambios progresivos en la arquitectura nuclear en el s\u00edndrome de progeria de Hutchinson-Gilford.<\/a> Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. <i>Proc Natl Acad Sci Estados Unidos<\/i>. 15 de junio de 2004; 101 (24): 8963-8. Publicaci\u00f3n electr\u00f3nica del 7 de junio de 2004.<\/p>\n<h4><strong>Libros y documentos<\/strong><\/h4>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301300\" target=\"_blank\" rel=\"noopener noreferrer\">S\u00edndrome de progeria de Hutchinson-Gilford.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. En: Pagon RA, Bird TD, Dolan CR, Stephens K, editores. GeneReviews [Internet]. Seattle (WA): Universidad de Washington, Seattle; 1993-.<br \/>12 de diciembre de 2003 [actualizado el 6 de enero de 2011].<\/p>\n<div class=\"wpb_text_column wpb_content_element\">\n<div class=\"wpb_wrapper\">\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301300\" target=\"_blank\" rel=\"noopener noreferrer\">S\u00edndrome de progeria de Hutchinson-Gilford.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. En: Pagon RA, Bird TD, Dolan CR, Stephens K, editores. GeneReviews [Internet]. Seattle (WA): Universidad de Washington, Seattle; 1993-.<br \/>12 de diciembre de 2003 [actualizado el 6 de enero de 2011].<\/p>\n<p>El s\u00edndrome de envejecimiento prematuro Progeria de Hutchinson-Gilford: perspectivas sobre el envejecimiento normal. Gordon, Leslie. Cap\u00edtulo de la 7.\u00aa edici\u00f3n de\u00a0<em>Manual de medicina geri\u00e1trica y gerontolog\u00eda de Brocklehurst<\/em>. Derechos de autor: 2010.<\/p>\n<p><em>LMNA<\/em>\u00a0y el s\u00edndrome de progeria de Hutchinson-Gilford y las laminopat\u00edas asociadas. Gordon LB, Brown WT, Rothman FG. En CJ Epstein, RP Erickson, A. Wynshaw-Boris (Eds.)<em>\u00a0Errores innatos del desarrollo: la base molecular de los trastornos cl\u00ednicos de la morfog\u00e9nesis<\/em>\u00a0(2<sup>Dakota del Norte<\/sup>\u00a0Nueva York, NY: Oxford University Press. 2008 139: 1219-1229.<\/p>\n<\/div>\n<\/div>\n<p>[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][\/et_pb_column][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 clase_m\u00f3dulo=\u201dpie de p\u00e1gina\u201d _builder_version=\u201d4.21.0\u2033 color_de_fondo=\u201d#29327a\u201d margen_personalizado=\u201d-2px|||||\u201d padding_personalizado=\u201d0|0px|0|0px|falso|falso\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d12px\u201d border_color_top=\u201d#00b2e2\u2033 global_module=\u201d133\u2033 bloqueado=\u201ddesactivado\u201d global_colors_info=\u201d{}\u201d][et_pb_row estructura_columna=\u201d1_4,1_4,1_2\u2033 make_equal=\u201dactivado\u201d module_class=\u201det_pb_row_fullwidth\u201d _builder_version=\u201d4.16\u2033 ancho=\u201d89%\u201d ancho_tablet=\u201d80%\u201d ancho_tel\u00e9fono=\u201d\u201d ancho_\u00faltima_edici\u00f3n=\u201dactivado|escritorio\u201d ancho_m\u00e1ximo=\u201d89%\u201d ancho_m\u00e1ximo_tablet=\u201d80%\u201d max_width_phone=\u201d\u201d max_width_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 make_fullwidth=\u201don\u201d width_unit=\u201doff\u201d custom_width_percent=\u201d100%\u201d global_colors_info=\u201d{}\u201d][et_pb_column type=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_cta button_url=\u201dhttps:\/\/www.progeriaresearch.org\/newsletter-signup\/\u201d button_text=\u201dReg\u00edstrese ahora\u201d admin_label=\u201dSuscr\u00edbase al bolet\u00edn informativo\u201d module_class=\u201dsign-btn\u201d _builder_version=\u201d4.16\u2033 header_font_size=\u201d25px\u201d background_color=\u201d#29327a\u201d 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encontraremos la cura!\u201d module_class=\u201dsign-btn\u201d _builder_version=\u201d4.16\u2033 header_font_size=\u201d25px\u201d background_color=\u201d#29327a\u201d animation_style=\u201dslide\u201d animation_direction=\u201dleft\u201d animation_intensity_slide=\u201d25%\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d30px\u201d header_font_size_last_edited=\u201don|desktop\u201d body_font_size_tablet=\u201d\u201d body_font_size_phone=\u201d\u201d body_font_size_last_edited=\u201don|desktop\u201d z_index_tablet=\u201d500\u2033 border_radii=\u201don|25px|25px|25px|25px\u201d global_colors_info=\u201d{}\u201d button_bg_color__hover_enabled=\u201don\u201d bot\u00f3n_bg_color__hover=\u201d#8fd2ed\u201d bot\u00f3n_border_color__hover_enabled=\u201don\u201d]<\/p>\n<h2>Juntos, nosotros<\/h2>\n<h2><em>VOLUNTAD<\/em><\/h2>\n<h2>\u00a1Encuentra la cura!<\/h2>\n<p>[\/et_pb_cta][\/et_pb_column][et_pb_column tipo=\u201d1_2\u2033 _builder_version=\u201d4.16\u2033 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[\u2026]<\/p>","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"\t\t\t\t[vc_row][vc_column][vc_custom_heading text=\"Medical Database\" font_container=\"tag:h1|text_align:center\" use_theme_fonts=\"yes\"][vc_column_text]<strong>What is the International Medical and Research Database?<\/strong>\r\n\r\nWe collect the medical records for children with Progeria from all over the world. Then we look at every aspect of medical care that has been given to the children. We perform statistical analyses, and look at what treatments have worked for maintaining quality of life and what treatments have not worked. Most doctors have only seen one child with Progeria, and they are not sure what to do when the child needs things like heart medications, anesthesia, and proper physical therapy. We have the ability to give advice to the doctors and their families based on this database program.\r\n\r\nThe Progeria Research Foundation is collaborating with Brown University Center for Gerontology and Health Care Research for this wonderful project. The Brown Center has many years of experience with creating and analyzing healthcare databases.\r\n\r\nWe also use the medical records to understand more about the basis of disease in Progeria, which serves as a springboard for new research in Progeria and in the diseases of aging such as heart disease. This may lead to clues for new treatments for the children and for all of us!\r\n\r\nThere has never been a centralized childhood Progeria database from which to draw health care information. This has led to unintentional clinical maltreatment of patients, misdiagnoses and delayed diagnoses, simply because caretakers do not know which medical strategies have been successful with other Progeria children and which have not. The goal of this project is to collect the health care records for children with Progeria and develop a centralized health database for use by health care professionals, medical researchers, and families of children with Progeria.\r\n\r\n<strong>Aims of the Database<\/strong>\r\n<ul>\r\n \t<li>To describe in detail what treatment strategies have been successful, and what treatments have failed for the medical issues faced by children with HGPS. This may help the families and their doctors understand how to best care for children with Progeria.<\/li>\r\n \t<li>To provide health care recommendations to families in non-medical language about the issues that are important to the quality of life for children with HGPS.<\/li>\r\n \t<li>The database is a resource for gaining new insights into the nature of HGPS and into the nature of other diseases such as atherosclerosis, which in turn will serve to stimulate the advancement of new research projects.<\/li>\r\n<\/ul>\r\n<strong>Institutional Review Board Approvals:<\/strong>\r\n\r\nThe PRF Medical and Research Database is Institutional Review Board (IRB) approved by the Rhode Island Hospital and the Brown University Committees on the Protection of Human Subjects. Rhode Island Hospital Federal Wide Assurance FWA00001230, Study CMTT# 0152-01, Brown University Federal Wide Assurance FWA 00004460, Study CMTT# 0211991243\r\n\r\n<strong>Publications Stemming From The Progeria Research Foundation Medical and Research Database<\/strong>\r\n\r\nThe Progeria Research Foundation Medical and Research Database has contributed to the following medical publications:\r\n\r\n<strong>Clinical Care Handbook<\/strong>\r\n\r\n<em>The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.<\/em> Gordon, Leslie B., Executive Editor. Copyright 2019 by The Progeria Research Foundation. All rights reserved.\r\n\r\n<img src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/iconPDF.gif\" width=\"34\" height=\"20\" \/> <a href=\"https:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/01\/Handbook-2018-PDF-One-File-v3-1.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Click here\u00a0<\/a>\u00a0to download the second edition of the Handbook in English.\r\n\r\nThe first edition of the handbook is available in Spanish and Portuguese versions. Translations of the second edition of the handbook in Spanish and Portuguese will be posted when available.\r\n\r\n<a href=\"https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/PRF%20Handbook%20Spanish.pdf\" target=\"_blank\" rel=\"noopener noreferrer\"><img src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/iconPDF.gif\" width=\"34\" height=\"20\" \/><\/a>\u00a0<a href=\"https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/PRF%20Handbook%20Spanish.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Click here<\/a> to download the Handbook in Spanish.\r\n\r\n<a href=\"https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/PRF%20Handbook%20Spanish.pdf\"><img src=\"https:\/\/www.progeriaresearch.org\/assets\/images\/iconPDF.gif\" width=\"34\" height=\"20\" \/><\/a>\u00a0<a href=\"https:\/\/www.progeriaresearch.org\/assets\/files\/pdf\/Handbook---Portuguese.pdf\" target=\"_blank\" rel=\"noopener noreferrer\">Click here<\/a> to download the Handbook in Portuguese.\r\n\r\n<strong>Journal Articles<\/strong>\r\n\r\n<strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28756152\" target=\"_blank\" rel=\"noopener noreferrer\">Ophthalmologic\u00a0Features\u00a0of\u00a0Progeria.\r\n<\/a><\/strong>Mantagos IS, Kleinman ME, Kieran MW, Gordon LB.\r\nAm J Ophthalmol. 2017 Jul 27. pii: S0002-9394(17)30317-3. doi: 10.1016\/j.ajo.2017.07.020. [Epub ahead of print]\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27920058\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>A\u00a0novel\u00a0somatic\u00a0mutation\u00a0achieves\u00a0partial rescue in a child with Hutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Bar DZ, Arlt MF, Brazier JF, Norris WE, Campbell SE, Chines P, Larrieu D, Jackson SP, Collins FS, Glover TW, Gordon LB.\r\nJ Med Genet. 2017 Mar;54(3):212-216. doi: 10.1136\/jmedgenet-2016-104295. Epub 2016 Dec 5.\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27799555\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Cardiac\u00a0electrical\u00a0defects\u00a0in\u00a0progeroid\u00a0mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations.<\/strong>\r\n<\/a>Rivera-Torres J, Calvo CJ, Llach A, Guzm\u00e1n-Mart\u00ednez G, Caballero R, Gonz\u00e1lez-G\u00f3mez C, Jim\u00e9nez-Borreguero LJ, Guadix JA, Osorio FG, L\u00f3pez-Ot\u00edn C, Herraiz-Mart\u00ednez A, Cabello N, Vallmitjana A, Ben\u00edtez R, Gordon LB, Jalife J, P\u00e9rez-Pomares JM, Tamargo J, Delp\u00f3n E, Hove-Madsen L, Filgueiras-Rama D, Andr\u00e9s V.\r\nProc Natl Acad Sci U S A. 2016 Nov 15;113(46):E7250-E7259. Epub 2016 Oct 31.\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27400896\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Clinical Trial\u00a0of the\u00a0Protein Farnesylation\u00a0Inhibitors\u00a0Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford Progeria Syndrome.<\/strong>\r\n<\/a>Gordon LB, Kleinman ME, Massaro J, D'Agostino RB Sr, Shappell H, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland RH, Nazarian A, Snyder BD, Ullrich NJ, Silvera VM, Liang MG, Quinn N, Miller DT, Huh SY, Dowton AA, Littlefield K, Greer MM, Kieran MW.\r\nCirculation. 2016 Jul 12;134(2):114-25. doi: 10.1161\/CIRCULATIONAHA.116.022188.\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26564085\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Hutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Ullrich NJ, Gordon LB.\r\nHandb Clin Neurol. 2015;132:249-64.\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24795390\"><strong>Impact\u00a0of\u00a0farnesylation\u00a0inhibitors\u00a0on\u00a0survival\u00a0in hutchinson-gilford progeria syndrome.<\/strong>\r\n<\/a>Gordon LB, Massaro J, D'Agostino RB Sr, Campbell SE, Brazier J, Brown WT, Kleinman ME, Kieran MW; Progeria Clinical Trials Collaborative.\r\nCirculation. 2014 Jul 1;130(1):27-34. doi: 10.1161\/CIRCULATIONAHA.113.008285. Epub 2014 May 2.\r\n\r\n<strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24456199\">Initial\u00a0Cutaneous\u00a0Manifestations of Hutchinson-Gilford Progeria Syndrome.<\/a>\u00a0<\/strong>Rork JF, Huang JT, Gordon LB, Kleinman M, Kieran MW, Liang MG. Pediatr Dermatol. 2014 Jan 24: 1-7. doi: 10.1111\/pde.12284.\r\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23897869\"><b>Neurologic<\/b>\u00a0<b>features<\/b>\u00a0of\u00a0<b>Hutchinson-Gilford<\/b>\u00a0progeria syndrome after lonafarnib treatment.\r\n<\/a>Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, Giobbie-Hurder A, Neuberg D, Kleinman ME. <i>Neurology<\/i>. 2013 Jul 30;81(5):427-30. doi: 10.1212\/WNL.0b013e31829d85c0. Epub 2013 Jun 28.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23179651\"><b>Imaging<\/b>\u00a0<b>characteristics<\/b>\u00a0of\u00a0<b>cerebrovascular<\/b>\u00a0<b>arteriopathy<\/b>\u00a0and\u00a0<b>stroke<\/b>\u00a0in Hutchinson-Gilford progeria syndrome.<\/a> Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ.\r\n<i>AJNR Am J Neuroradiol<\/i>. 2013 May;34(5):1091-7. doi: 10.3174\/ajnr.A3341. Epub 2012 Nov 22.<\/p>\r\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22460337\"><b>Craniofacial abnormalities<\/b>\u00a0in\u00a0<b>Hutchinson<\/b>-Gilford progeria syndrome.\r\n<\/a>Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. <i>AJNR Am J Neuroradiol<\/i>. 2012 Sep;33(8):1512-8. doi: 10.3174\/ajnr.A3088. Epub 2012 Mar 29.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23012407\"><b>Clinical trial<\/b>\u00a0of a\u00a0<b>farnesyltransferase<\/b>\u00a0<b>inhibitor<\/b>\u00a0in\u00a0<b>children<\/b>\u00a0with\u00a0<b>Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, Smoot LB, Gordon CM, Cleveland R, Snyder BD, Fligor B, Bishop WR, Statkevich P, Regen A, Sonis A, Riley S, Ploski C, Correia A, Quinn N, Ullrich NJ, Nazarian A, Liang MG, Huh SY, Schwartzman A, Kieran MW. <i>Proc Natl Acad Sci U S A<\/i>. 2012 Oct 9;109(41):16666-71. doi: 10.1073\/pnas.1202529109. Epub 2012 Sep 24<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22083160\"><b>Mechanisms<\/b>\u00a0of\u00a0<b>premature<\/b>\u00a0<b>vascular<\/b>\u00a0<b>aging<\/b>\u00a0in\u00a0<b>children<\/b>\u00a0with\u00a0<b>Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Gerhard-Herman M, Smoot LB, Wake N, Kieran MW, Kleinman ME, Miller DT, Schwartzman A, Giobbie-Hurder A, Neuberg D, Gordon LB. <i>Hypertension<\/i>. 2012 Jan;59(1):92-7. doi: 10.1161\/HYPERTENSIONAHA.111.180919. Epub 2011 Nov 14.<\/p>\r\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22752073\"><strong>A\u00a0prospective study\u00a0of\u00a0radiographic\u00a0manifestations\u00a0in Hutchinson-Gilford progeria syndrome.<\/strong>\r\n<\/a>Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD, Nazarian A, Giobbie-Hurder A, Neuberg D, Kieran MW. <i>Pediatr Radiol<\/i>. 2012 Sep;42(9):1089-98. doi: 10.1007\/s00247-012-2423-1. Epub 2012 Jul 1.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21980471\"><b>Low<\/b>\u00a0and\u00a0<b>high<\/b>\u00a0<b>expressing<\/b>\u00a0<b>alleles<\/b>\u00a0of the LMNA gene: implications for laminopathy disease development.<\/a> Rodr\u00edguez S, Eriksson M. <i>PLoS One<\/i>. 2011;6(9):e25472. doi: 10.1371\/journal.pone.0025472. Epub 2011 Sep 29.\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21445982\"><b>\r\nHutchinson-Gilford<\/b>\u00a0<b>progeria<\/b>\u00a0is a\u00a0<b>skeletal<\/b>\u00a0dysplasia.<\/a> Gordon CM, Gordon LB, Snyder BD, Nazarian A, Quinn N, Huh S, Giobbie-Hurder A, Neuberg D, Cleveland R, Kleinman M, Miller DT, Kieran MW. <i>J Bone Miner Res<\/i>. 2011 Jul;26(7):1670-9. doi: 10.1002\/jbmr.392.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20798379\"><b>Cardiovascular pathology<\/b>\u00a0in\u00a0<b>Hutchinson<\/b>-Gilford progeria: correlation with the vascular<b>pathology<\/b>\u00a0of aging.<\/a> Olive M, Harten I, Mitchell R, Beers JK, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. <i>Arterioscler Thromb Vasc Biol<\/i>. 2010 Nov;30(11):2301-9. doi: 10.1161\/ATVBAHA.110.209460. Epub 2010 Aug 26.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19236595\"><b>Hutchinson-Gilford<\/b>\u00a0<b>progeria<\/b>\u00a0<b>syndrome<\/b>:\u00a0<b>oral<\/b>\u00a0and craniofacial phenotypes.<\/a> Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. <i>Oral<\/i><i>\u00a0<\/i><i>Dis<\/i>. 2009 Apr;15(3):187-95. doi: 10.1111\/j.1601-0825.2009.01521.x. Epub 2009 Feb 19.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18334552\"><b>Targeted<\/b>\u00a0<b>transgenic<\/b>\u00a0<b>expression<\/b>\u00a0of the\u00a0<b>mutation<\/b>\u00a0<b>causing<\/b>\u00a0Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease.<\/a> Sagelius H, Rosengardten Y, Hanif M, Erdos MR, Rozell B, Collins FS, Eriksson M. <i>J Cell Sci<\/i>. 2008 Apr 1;121(Pt 7):969-78. doi: 10.1242\/jcs.022913. Epub 2008 Mar 11.<\/p>\r\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18708427\"><b>Reversible<\/b>\u00a0<b>phenotype<\/b>\u00a0in a\u00a0<b>mouse<\/b>\u00a0model of Hutchinson-Gilford progeria syndrome.\r\n<\/a>Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. <i>J Med Genet<\/i>. 2008 Dec;45(12):794-801. doi: 10.1136\/jmg.2008.060772. Epub 2008 Aug 15.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18256394\"><b>Phenotype<\/b>\u00a0and\u00a0<b>course<\/b>\u00a0of\u00a0<b>Hutchinson<\/b>-Gilford progeria syndrome.<\/a> Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. <i>N Engl J Med<\/i>. 2008 Feb 7;358(6):592-604. doi: 10.1056\/NEJMoa0706898.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908771\"><b>New<\/b>\u00a0<b>approaches<\/b>\u00a0to\u00a0<b>progeria<\/b>.<\/a> Kieran MW, Gordon L, Kleinman M. Pediatrics. 2007 Oct;120(4):834-41. Review. Erratum in: <i>Pediatrics<\/i>. 2007 Dec;120(6):1405.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908770\"><b>Disease progression<\/b>\u00a0in\u00a0<b>Hutchinson-Gilford<\/b>\u00a0progeria syndrome: impact on growth and development.<\/a> Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD, Kieran MW. <i>Pediatrics<\/i>. 2007 Oct;120(4):824-33.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15756215\"><b>Reduced<\/b>\u00a0<b>adiponectin<\/b>\u00a0and\u00a0<b>HDL cholesterol<\/b>\u00a0without\u00a0<b>elevated<\/b>\u00a0<b>C-reactive protein<\/b>: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome.<\/a> Gordon LB, Harten IA, Patti ME, Lichtenstein AH. <i>J Pediatr<\/i>. 2005 Mar;146(3):336-41.<\/p>\r\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16129833\"><b>Inhibiting<\/b>\u00a0<b>farnesylation<\/b>\u00a0of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford\u00a0<b>progeria<\/b>\u00a0syndrome.<\/a> Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, Gordon LB, Der CJ, Cox AD, Collins FS. <i>Proc Natl Acad Sci U S A<\/i>. 2005 Sep 6;102(36):12879-84. Epub 2005 Aug 29<\/p>\r\n<p class=\"details\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15184648\"><b>Accumulation<\/b>\u00a0of\u00a0<b>mutant<\/b>\u00a0<b>lamin A<\/b>\u00a0<b>causes<\/b>\u00a0progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.<\/a> Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. <i>Proc Natl Acad Sci U S A<\/i>. 2004 Jun 15;101(24):8963-8. Epub 2004 Jun 7.<\/p>\r\n<strong>Books and Documents<\/strong>\r\n\r\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301300\" target=\"_blank\" rel=\"noopener noreferrer\">Hutchinson-Gilford Progeria Syndrome.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.\r\n2003 Dec 12 [updated 2011 Jan 06].\r\n\r\nThe Premature Aging Syndrome Hutchinson-Gilford Progeria: Insights Into Normal Aging. Gordon, Leslie. Chapter in the 7th edition of <em>Brocklehurst\u2019s Textbook of Geriatric Medicine and Gerontology<\/em>. Copyright: 2010.\r\n\r\n<em>LMNA<\/em> and the Hutchinson-Gilford Progeria Syndrome and Associated Laminopathies. Gordon LB, Brown WT, Rothman FG. \u00a0In C. J. Epstein, R. P. Erickson, A. Wynshaw-Boris (Eds.)<em> Inborn Errors of Development: The molecular basis of clinical disorders of morphogenesis<\/em> (2<sup>nd<\/sup> ed.). New York, NY: Oxford University Press. 2008 139: 1219-1229.[\/vc_column_text][vc_column_text]Sam passed away on January 10, 2014, leaving a legacy of inspiration that now drives PRF and its supporters to continue the quest for a cure, with more determination than ever. <a href=\"https:\/\/www.progeriaresearch.org\/sam-berns-102396-0110141.html\">Click here<\/a> to learn more about this remarkable young man.[\/vc_column_text][vc_column_text]Together with caring, dedicated board members and other generous volunteers, The Progeria Research Foundation was created to raise awareness, educate and help the families, their doctors, researchers and the general public about Hutchinson-Gilford Progeria Syndrome. In addition, PRF funds medical research and runs research-related programs specifically aimed at finding the cause*, treatments, and cure for this syndrome.[\/vc_column_text][vc_column_text]Since its inception, PRF has benefited from the leadership of Attorney Audrey Gordon, Sam's aunt, who serves as the organization's President and Executive Director.[\/vc_column_text][vc_column_text]<strong>Did you know?<\/strong>\r\n\r\nWith the exception of our staff, everyone involved with PRF is a volunteer! Our Board of Directors, Clerk, Treasurer, committee members, translators, fund-raisers, etc. all devote their time, energy and talents to furthering our mission without pay. As a result, our administrative costs are very low. This leaves more money to devote to medical research and raising public awareness, which ultimately lead to finding a cure for Progeria.[\/vc_column_text][vc_column_text css=\".vc_custom_1508790933490{background-color: #ffffff !important;}\"]\r\n<p class=\"\">Leslie B. Gordon, MD, PhD, is PRF's Medical Director. She is also the Principal Investigator of PRF's research-related programs: The PRF International Registry, Cell & Tissue Bank, Medical & Research Database, and Diagnostics Testing Program, and co-author on the historic Progeria gene finding and treatment discovery*.<\/p>\r\n[\/vc_column_text][vc_column_text css=\".vc_custom_1488054553154{background-color: #ffffff !important;}\"]\r\n<p class=\"\">* Thanks to PRF's efforts, in April 2003 PRF and the National Institutes of Health announced that <a href=\"https:\/\/www.progeriaresearch.org\/identification_of_gene_gives_hope_to_children_with_progeria.html\">the cause of Progeria, a mutation in the LMNA gene, was found<\/a>, and in September 2012, <a href=\"https:\/\/www.progeriaresearch.org\/first-ever-progeria-treatment.html\">the first-ever treatment was discovered.<\/a><\/p>\r\n[\/vc_column_text][vc_column_text css=\".vc_custom_1488054565202{background-color: #ffffff !important;}\"]There is much work to be done and little resources with which to do so. We cannot do it alone. With your support, the cure will be discovered for these wonderful children.[\/vc_column_text][vc_column_text css=\".vc_custom_1488054579010{background-color: #ffffff !important;}\"]Together, we <em>WILL<\/em> find the cure.[\/vc_column_text][\/vc_column][\/vc_row]\t\t","_et_gb_content_width":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-788","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Database | The Progeria Research Foundation<\/title>\n<meta name=\"description\" content=\"As part of our continued efforts in finding the cure, PRF collects the medical records for children with Progeria from all over the world.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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