{"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\/pt\/medical-database\/","title":{"rendered":"Banco de Dados M\u00e9dicos"},"content":{"rendered":"<p>[et_pb_section fb_built=\u201d1\u2033 largura_completa=\u201dligado\u201d disabled_on=\u201ddesligado|desligado|desligado\u201d _builder_version=\u201d4.16\u2033 largura_completa_bottom=\u201d55px\u201d cor_completa_bottom=\u201d#29327a\u201d bloqueado=\u201ddesligado\u201d global_colors_info=\u201d{}\u201d][et_pb_cabe\u00e7alho_completo _builder_version=\u201d4.16\u2033 fonte_completa=\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=\u201dposi\u00e7\u00e3o de fundo: centro 18% !importante;\u201d informa\u00e7\u00f5es_de_cores_globais=\u201d{}\u201d]<\/p>\n<h1 class=\"vc_custom_heading\" data-fontsize=\"34\" data-lineheight=\"48\">M\u00e9dico <br \/>Banco de dados<\/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 specialty=\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=\u201dsidebar-secondary-nav\u201d module_class=\u201dhandprint-bg\u201d _builder_version=\u201d4.16\u2033 background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png\u201d parallax=\u201don\u201d parallax_method=\u201doff\u201d largura_interna=\u201d100%\u201d largura_m\u00e1xima_interna=\u201d100%\u201d preenchimento_personalizado=\u201d0|0px|54px|0px|falso|falso\u201d z_index_tablet=\u201d500\u2033 largura_da_borda_superior=\u201d10px\u201d cor_da_borda_superior=\u201d#8fd2ed\u201d use_largura_personalizada=\u201dligado\u201d largura_unit=\u201ddesligado\u201d largura_personalizada_percent=\u201d100%\u201d informa\u00e7\u00f5es_de_cores_globais=\u201d{}\u201d][coluna_et_pb tipo=\u201d1_4\u2033 _builder_version=\u201d4.16\u2033 preenchimento_personalizado=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_sidebar area=\u201det_pb_widget_area_1\u2033 disabled_on=\u201don|on|off\u201d module_class=\u201dsubpage-sidebars\u201d _builder_version=\u201d4.16\u2033 animation_style=\u201dfade\u201d z_index_tablet=\u201d500\u2033 border_width_right=\u201d5px\u201d locked=\u201doff\u201d global_colors_info=\u201d{}\u201d]<br \/>\n[\/et_pb_sidebar][\/et_pb_column][et_pb_column type=\u201d3_4\u2033 specialty_columns=\u201d3\u2033 _builder_version=\u201d4.16\u2033 custom_padding=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_row_inner _builder_version=\u201d4.16\u2033 background_color=\u201d#00b2e2\u2033 custom_margin=\u201d41px||\u201d custom_margin_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 locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_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=\u201dO que \u00e9 o Banco de Dados M\u00e9dico e de Pesquisa Internacional?\u201d _builder_version=\u201d4.16\u2033 header_2_line_height=\u201d1.2em\u201d background_layout=\u201descuro\u201d custom_margin=\u201d||35px\u201d custom_padding=\u201d|||\u201d custom_padding_tablet=\u201d|50px||50px||true\u201d custom_padding_phone=\u201d\u201d custom_padding_last_edited=\u201dno|desktop\u201d header_font_size_tablet=\u201d\u201d header_font_size_phone=\u201d\u201d header_font_size_last_edited=\u201dno|desktop\u201d header_2_font_size_tablet=\u201d25px\u201d header_2_font_size_phone=\u201d\u201d header_2_font_size_last_edited=\u201dno|tablet\u201d header_4_font_size_tablet=\u201d\u201d header_4_font_size_phone=\u201d19px\u201d header_4_font_size_last_edited=\u201dno|telefone\u201d header_4_line_height_tablet=\u201d\u201d header_4_line_height_phone=\u201d1.2em\u201d header_4_line_height_last_edited=\u201dno|telefone\u201d z_index_tablet=\u201d500\u2033 informa\u00e7\u00f5es_de_cores_globais=\u201d{}\u201d]<\/p>\n<h2 style=\"text-align: center;\"><strong>O que \u00e9 o Banco de Dados M\u00e9dico e de Pesquisa Internacional?<\/strong><\/h2>\n<p>[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner preenchimento_personalizado_\u00faltima_edi\u00e7\u00e3o=\u201dem|telefone\u201d _builder_version=\u201d4.16\u2033 margem_personalizada=\u201d||20px\u201d preenchimento_personalizado=\u201d|35px|0|0px|falso|falso\u201d preenchimento_personalizado_tablet=\u201d|35px||35px||true\u201d preenchimento_personalizado_telefone=\u201d\u201d dire\u00e7\u00e3o_anima\u00e7\u00e3o=\u201dtopo\u201d informa\u00e7\u00f5es_de_cores_globais=\u201d{}\u201d][et_pb_column_inner tipo_de_coluna_de_especialidade_salva=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 preenchimento_personalizado=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text _builder_version=\u201d4.17.4\u2033 background_size=\u201dinicial\u201d background_position=\u201dtop_left\u201d background_repeat=\u201drepetir\u201d global_colors_info=\u201d{}\u201d]<\/p>\n<p>Coletamos os registros m\u00e9dicos de crian\u00e7as com Prog\u00e9ria de todo o mundo. Ent\u00e3o, olhamos para cada aspecto do cuidado m\u00e9dico que foi dado \u00e0s crian\u00e7as. Realizamos an\u00e1lises estat\u00edsticas e olhamos quais tratamentos funcionaram para manter a qualidade de vida e quais tratamentos n\u00e3o funcionaram. A maioria dos m\u00e9dicos viu apenas uma crian\u00e7a com Prog\u00e9ria, e eles n\u00e3o t\u00eam certeza do que fazer quando a crian\u00e7a precisa de coisas como medicamentos para o cora\u00e7\u00e3o, anestesia e fisioterapia adequada. Temos a capacidade de dar conselhos aos m\u00e9dicos e suas fam\u00edlias com base neste programa de banco de dados.<\/p>\n<p>A Progeria Research Foundation est\u00e1 colaborando com o Brown University Center for Gerontology and Health Care Research para este projeto maravilhoso. O Brown Center tem muitos anos de experi\u00eancia com a cria\u00e7\u00e3o e an\u00e1lise de bancos de dados de assist\u00eancia m\u00e9dica.<\/p>\n<p>Tamb\u00e9m usamos os registros m\u00e9dicos para entender mais sobre a base da doen\u00e7a na Progeria, o que serve como um trampolim para novas pesquisas na Progeria e nas doen\u00e7as do envelhecimento, como doen\u00e7as card\u00edacas. Isso pode levar a pistas para novos tratamentos para as crian\u00e7as e para todos n\u00f3s!<\/p>\n<p>Nunca houve um banco de dados centralizado sobre Progeria infantil do qual extrair informa\u00e7\u00f5es sobre cuidados de sa\u00fade. Isso levou a maus-tratos cl\u00ednicos n\u00e3o intencionais de pacientes, diagn\u00f3sticos errados e diagn\u00f3sticos tardios, simplesmente porque os cuidadores n\u00e3o sabem quais estrat\u00e9gias m\u00e9dicas foram bem-sucedidas com outras crian\u00e7as com Progeria e quais n\u00e3o foram. O objetivo deste projeto \u00e9 coletar os registros de cuidados de sa\u00fade de crian\u00e7as com Progeria e desenvolver um banco de dados de sa\u00fade centralizado para uso por profissionais de sa\u00fade, pesquisadores m\u00e9dicos e fam\u00edlias de crian\u00e7as com Progeria.<\/p>\n<h4><strong>Objetivos do Banco de Dados<\/strong><\/h4>\n<ul>\n<li>Descrever em detalhes quais estrat\u00e9gias de tratamento foram bem-sucedidas e quais tratamentos falharam para os problemas m\u00e9dicos enfrentados por crian\u00e7as com HGPS. Isso pode ajudar as fam\u00edlias e seus m\u00e9dicos a entender como cuidar melhor de crian\u00e7as com Progeria.<\/li>\n<li>Fornecer recomenda\u00e7\u00f5es de cuidados de sa\u00fade \u00e0s fam\u00edlias em linguagem n\u00e3o m\u00e9dica sobre quest\u00f5es que s\u00e3o importantes para a qualidade de vida de crian\u00e7as com HGPS.<\/li>\n<li>O banco de dados \u00e9 um recurso para obter novos insights sobre a natureza do HGPS e sobre a natureza de outras doen\u00e7as, como a aterosclerose, o que, por sua vez, servir\u00e1 para estimular o avan\u00e7o de novos projetos de pesquisa.<\/li>\n<\/ul>\n<h4><strong>Aprova\u00e7\u00f5es do Conselho de Revis\u00e3o Institucional:<\/strong><\/h4>\n<p>O PRF Medical and Research Database \u00e9 um Institutional Review Board (IRB) aprovado pelo Rhode Island Hospital e pelos Comit\u00eas da Brown University sobre a Prote\u00e7\u00e3o de Sujeitos Humanos. Rhode Island Hospital Federal Wide Assurance FWA00001230, Estudo CMTT# 0152-01, Brown University Federal Wide Assurance FWA 00004460, Estudo CMTT# 0211991243<\/p>\n<h4 style=\"font-weight: 400;\"><strong>Uso de materiais em publica\u00e7\u00f5es:<\/strong><\/h4>\n<p style=\"font-weight: 400;\">Para todas as publica\u00e7\u00f5es resultantes do uso de informa\u00e7\u00f5es obtidas do The Progeria Research Foundation Medical and Research Database, os pesquisadores devem incluir a seguinte cita\u00e7\u00e3o na se\u00e7\u00e3o de materiais e m\u00e9todos (n\u00e3o apenas os agradecimentos). Esta reda\u00e7\u00e3o pode variar um pouco, dependendo de quais informa\u00e7\u00f5es foram fornecidas para a pesquisa.<\/p>\n<p style=\"font-weight: 400;\">\u201cInforma\u00e7\u00f5es cl\u00ednicas desidentificadas foram obtidas do Banco de Dados M\u00e9dico e de Pesquisa da Progeria Research Foundation (PRF) (<a href=\"https:\/\/www.progeriaresearch.org\/pt\/\" 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 locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner saved_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=\u201dPublica\u00e7\u00f5es derivadas do banco de dados m\u00e9dico e de pesquisa da Progeria Research Foundation\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>Publica\u00e7\u00f5es provenientes do banco de dados m\u00e9dico e de pesquisa da Progeria Research Foundation<\/strong><\/h2>\n<p>\u00a0<\/p>\n<p>[\/et_pb_text][\/et_pb_column_inner][\/et_pb_row_inner][et_pb_row_inner column_structure=\u201d1_2,1_2\u2033 custom_padding_last_edited=\u201don|phone\u201d padding_left_right_link_1=\u201dfalse\u201d padding_left_right_link_2=\u201dfalse\u201d _builder_version=\u201d4.16\u2033 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 border_width_bottom=\u201d10px\u201d border_color_bottom=\u201d#8fd2ed\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner tipo=\u201d1_2\u2033 tipo_de_coluna_de_especialidade_salva=\u201d3_4\u2033 _vers\u00e3o_do_construtor=\u201d4.16\u2033 preenchimento_personalizado=\u201d|20px||\u201d informa\u00e7\u00f5es_de_cores_globais=\u201d{}\u201d preenchimento_personalizado__hover=\u201d|||\u201d][texto_et_pb _vers\u00e3o_do_construtor=\u201d4.16\u2033 informa\u00e7\u00f5es_de_cores_globais=\u201d{}\u201d]<\/p>\n<p>O Banco de Dados M\u00e9dico e de Pesquisa da Progeria Research Foundation contribuiu para as seguintes publica\u00e7\u00f5es m\u00e9dicas:<\/p>\n<p><strong>Manual de Cuidados Cl\u00ednicos<\/strong><\/p>\n<p><em>Manual da Prog\u00e9ria: um guia para fam\u00edlias e profissionais de sa\u00fade de crian\u00e7as com Prog\u00e9ria.<\/em> Gordon, Leslie B., Editora Executiva. Copyright 2019 pela The Progeria Research Foundation. Todos os direitos reservados.<\/p>\n<p>\u00a0A primeira edi\u00e7\u00e3o do manual est\u00e1 dispon\u00edvel em vers\u00f5es em espanhol e portugu\u00eas. Tradu\u00e7\u00f5es da segunda edi\u00e7\u00e3o do manual em espanhol e portugu\u00eas ser\u00e3o publicadas quando dispon\u00edveis.<\/p>\n<p>&nbsp;<\/p>\n<p>[\/et_pb_text][\/et_pb_column_inner][et_pb_column_inner type=\u201d1_2\u2033 saved_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 edi\u00e7\u00e3o \u2013 ingl\u00eas\u201d button_alignment=\u201dcenter\u201d admin_label=\u201d2\u00aa edi\u00e7\u00e3o \u2013 ingl\u00eas\u201d _builder_version=\u201d4.16\u2033 background_layout=\u201descuro\u201d custom_margin=\u201d||20px\u201d animation_style=\u201dslide\u201d animation_direction=\u201ddireita\u201d animation_intensity_slide=\u201d25%\u201d z_index_tablet=\u201d500\u2033 custom_css_main_element=\u201dlargura: 70%;\u201d global_colors_info=\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\/Handbook\u2014Portuguese.pdf\u201d button_text=\u201d1\u00aa Edi\u00e7\u00e3o \u2013 Portugu\u00eas\u201d button_alignment=\u201dcenter\u201d admin_label=\u201d1\u00aa Edi\u00e7\u00e3o \u2013 Portugu\u00eas\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 preenchimento_personalizado_\u00faltima_edi\u00e7\u00e3o=\u201dem|telefone\u201d _builder_version=\u201d4.16\u2033 preenchimento_personalizado=\u201d0|35px|0|0px|falso|falso\u201d preenchimento_personalizado_tablet=\u201d|35px||35px||true\u201d preenchimento_personalizado_telefone=\u201d\u201d anima\u00e7\u00e3o_dire\u00e7\u00e3o=\u201dtopo\u201d global_colors_info=\u201d{}\u201d][et_pb_column_inner tipo_de_coluna_de_especialidade_salva=\u201d3_4\u2033 _builder_version=\u201d4.16\u2033 preenchimento_personalizado=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_text admin_label=\u201dArtigos de peri\u00f3dicos\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>Artigos de peri\u00f3dicos<\/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\">A hematopoiese clonal n\u00e3o \u00e9 prevalente na 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 online antes da impress\u00e3o, 25 de junho de 2022]. Geroci\u00eancia. 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\">Associa\u00e7\u00e3o do tratamento com lonafarnibe versus nenhum tratamento com a taxa de mortalidade em pacientes com s\u00edndrome de Hutchinson-Gilford Progeria.<\/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\">An\u00e1lises de casos progeroides juvenis LMNA-negativos confirmam muta\u00e7\u00f5es bial\u00e9licas POLR3A na s\u00edndrome de Wiedemann-Rautenstrauch e expandem o espectro fenot\u00edpico de muta\u00e7\u00f5es 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, Geneta. dezembro de 2018;137(11-12):921-939. doi: 10.1007\/s00439-018-1957-1. Epub 2018, 19 de novembro.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 resgata m\u00faltiplos defeitos celulares em fibroblastos de pacientes com laminopatia. <\/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. 2018 Abr 17;115(16):4206-4211. doi: 10.1073\/pnas.1802811115. Epub 2018 Mar 26. 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 da prog\u00e9ria.<br \/><\/a><\/strong>Mantagos IS, Kleinman ME, Kieran MW, Gordon LB.<br \/>Am J Ophthalmol. 2017 Jul 27. pii: S0002-9394(17)30317-3. doi: 10.1016\/j.ajo.2017.07.020. [Epub antes da impress\u00e3o]<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27920058\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Uma nova muta\u00e7\u00e3o som\u00e1tica alcan\u00e7a resgate parcial em uma crian\u00e7a com s\u00edndrome de prog\u00e9ria 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. Mar\u00e7o de 2017;54(3):212-216. doi: 10.1136\/jmedgenet-2016-104295. Epub 2016, 5 de dezembro.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27799555\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Defeitos el\u00e9tricos card\u00edacos em camundongos proger\u00f3ides e pacientes com s\u00edndrome de progeria de Hutchinson-Gilford com altera\u00e7\u00f5es na l\u00e2mina 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. 2016 Nov 15;113(46):E7250-E7259. Epub 2016 Out 31.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27400896\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Ensaio cl\u00ednico dos inibidores de farnesila\u00e7\u00e3o de prote\u00ednas Lonafarnib, Pravastatina e \u00c1cido Zoledr\u00f4nico em crian\u00e7as com S\u00edndrome de Hutchinson-Gilford Progeria.<\/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 \/>Circula\u00e7\u00e3o. 2016 Jul 12;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 NJ, Gordon LB.<br \/>Manual de Cl\u00ednica Neurol\u00f3gica. 2015;132:249-64.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24795390\"><strong>Impacto dos inibidores de farnesila\u00e7\u00e3o na sobreviv\u00eancia na 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; Colabora\u00e7\u00e3o de Ensaios Cl\u00ednicos da Progeria.<br \/>Circula\u00e7\u00e3o. 2014 Jul 1;130(1):27-34. doi: 10.1161\/CIRCULATIONAHA.113.008285. Epub 2014 Mai 2.<\/p>\n<p><strong><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24456199\">Manifesta\u00e7\u00f5es cut\u00e2neas iniciais da s\u00edndrome de Hutchinson-Gilford Progeria.<\/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.<\/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 prog\u00e9ria ap\u00f3s tratamento com lonafarnib.<br \/><\/a>Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM, Giobbie-Hurder A, Neuberg D, Kleinman ME. <i>Neurologia<\/i>. 30 de julho de 2013;81(5):427-30. doi: 10.1212\/WNL.0b013e31829d85c0. Epub 28 de junho de 2013.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23179651\"><b>Imagem<\/b>\u00a0<b>caracter\u00edsticas<\/b>\u00a0de\u00a0<b>cerebrovascular<\/b>\u00a0<b>arteriopatia<\/b>\u00a0e\u00a0<b>AVC<\/b>\u00a0na s\u00edndrome de progeria de Hutchinson-Gilford.<\/a> Silvera VM, Gordon LB, Orbach DB, Campbell SE, Machan JT, Ullrich NJ.<br \/><i>AJNR Sou J Neuroradiol<\/i>. 2013 maio;34(5):1091-7. doi: 10.3174\/ajnr.A3341. Epub 2012 nov 22.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22460337\"><b>Anormalidades craniofaciais<\/b>\u00a0em\u00a0<b>Hutchinson<\/b>-S\u00edndrome de progeria de Gilford.<br \/><\/a>Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. <i>AJNR Sou J Neuroradiol<\/i>. Setembro de 2012;33(8):1512-8. doi: 10.3174\/ajnr.A3088. Epub 2012, 29 de mar\u00e7o.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23012407\"><b>Ensaio cl\u00ednico<\/b>\u00a0de um\u00a0<b>farnesiltransferase<\/b>\u00a0<b>inibidor<\/b>\u00a0em\u00a0<b>crian\u00e7as<\/b>\u00a0com\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 EUA<\/i>. 2012 Out 9;109(41):16666-71. doi: 10.1073\/pnas.1202529109. Epub 2012 Set 24<\/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>envelhecimento<\/b>\u00a0em\u00a0<b>crian\u00e7as<\/b>\u00a0com\u00a0<b>Hutchinson<\/b>-S\u00edndrome de progeria de Gilford.<\/a> Portugu\u00eas Gerhard-Herman M, Smoot LB, Wake N, Kieran MW, Kleinman ME, Miller DT, Schwartzman A, Giobbie-Hurder A, Neuberg D, Gordon LB. <i>Hipertens\u00e3o<\/i>. 2012 Jan;59(1):92-7. doi: 10.1161\/HYPERTENSIONAHA.111.180919. Epub 2011 Nov 14.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22752073\"><strong>Um estudo prospectivo das manifesta\u00e7\u00f5es radiogr\u00e1ficas na s\u00edndrome de progeria de Hutchinson-Gilford.<\/strong><br \/><\/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 Set;42(9):1089-98. doi: 10.1007\/s00247-012-2423-1. Epub 2012 Jul 1.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21980471\"><b>Baixo<\/b>\u00a0e\u00a0<b>alto<\/b>\u00a0<b>expressando<\/b>\u00a0<b>alelos<\/b>\u00a0do gene LMNA: implica\u00e7\u00f5es para o desenvolvimento da doen\u00e7a laminopatia.<\/a> Rodr\u00edguez S, Eriksson M. <i>PLoS Um<\/i>. 2011;6(9):e25472. doi: 10.1371\/journal.pone.0025472. Epub 2011 29 de setembro.<br \/><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21445982\"><b><br \/>Hutchinson-Gilford<\/b>\u00a0<b>prog\u00e9ria<\/b>\u00a0\u00e9 um\u00a0<b>esquel\u00e9tico<\/b>\u00a0displasia.<\/a> Portugu\u00eas 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>. julho 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>Patologia cardiovascular<\/b>\u00a0em\u00a0<b>Hutchinson<\/b>-Progeria de Gilford: correla\u00e7\u00e3o com o sistema vascular<b>patologia<\/b>\u00a0do envelhecimento.<\/a> Portugu\u00eas 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 Trombo Vasc Biol<\/i>. 2010 Nov;30(11):2301-9. doi: 10.1161\/ATVBAHA.110.209460. Epub 2010 Ago 26.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19236595\"><b>Hutchinson-Gilford<\/b>\u00a0<b>prog\u00e9ria<\/b>\u00a0<b>s\u00edndrome<\/b>:\u00a0<b>oral<\/b>\u00a0e fen\u00f3tipos craniofaciais.<\/a> Domingo DL, Trujillo MI, Conselho SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. <i>Oral<\/i><i>\u00a0<\/i><i>Des<\/i>. 2009 abr;15(3):187-95. doi: 10.1111\/j.1601-0825.2009.01521.x. Epub 2009 fev 19.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18334552\"><b>Alvo<\/b>\u00a0<b>transg\u00eanico<\/b>\u00a0<b>express\u00e3o<\/b>\u00a0do\u00a0<b>muta\u00e7\u00e3o<\/b>\u00a0<b>causando<\/b>\u00a0A s\u00edndrome de progeria de Hutchinson-Gilford leva \u00e0 doen\u00e7a epid\u00e9rmica proliferativa e degenerativa.<\/a> Sagelius H, Rosengardten Y, Hanif M, Erdos MR, Rozell B, Collins FS, Eriksson M. <i>Ci\u00eancia da c\u00e9lula J<\/i>. 2008 Abr 1;121(Pt 7):969-78. doi: 10.1242\/jcs.022913. Epub 2008 Mar 11.<\/p>\n<p class=\"desc\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18708427\"><b>Revers\u00edvel<\/b>\u00a0<b>fen\u00f3tipo<\/b>\u00a0em um\u00a0<b>rato<\/b>\u00a0modelo da s\u00edndrome de progeria de Hutchinson-Gilford.<br \/><\/a>Sagelius H, Rosengardten Y, Schmidt E, Sonnabend C, Rozell B, Eriksson M. <i>J Med Genet<\/i>. Dezembro de 2008;45(12):794-801. doi: 10.1136\/jmg.2008.060772. Epub 2008, 15 de agosto.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/18256394\"><b>Fen\u00f3tipo<\/b>\u00a0e\u00a0<b>curso<\/b>\u00a0de\u00a0<b>Hutchinson<\/b>-S\u00edndrome de progeria de Gilford.<\/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 3\u00ba, Gahl WA, Introne WJ. <i>N Ingl\u00eas J Med<\/i>. 7 de fevereiro 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>Novo<\/b>\u00a0<b>abordagens<\/b>\u00a0para\u00a0<b>prog\u00e9ria<\/b>.<\/a> Kieran MW, Gordon L, Kleinman M. Pediatrics. 2007 Out;120(4):834-41. Revis\u00e3o. Errata em: <i>Pediatria<\/i>. Dezembro de 2007;120(6):1405.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17908770\"><b>Progress\u00e3o da doen\u00e7a<\/b>\u00a0em\u00a0<b>Hutchinson-Gilford<\/b>\u00a0S\u00edndrome de prog\u00e9ria: impacto no crescimento e desenvolvimento.<\/a> Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD, Kieran MW. <i>Pediatria<\/i>. Outubro de 2007;120(4):824-33.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15756215\"><b>Reduzido<\/b>\u00a0<b>adiponectina<\/b>\u00a0e\u00a0<b>Colesterol HDL<\/b>\u00a0sem\u00a0<b>elevado<\/b>\u00a0<b>Prote\u00edna C-reativa<\/b>: pistas para a biologia da aterosclerose prematura na S\u00edndrome de Hutchinson-Gilford Progeria.<\/a> Gordon LB, Harten IA, Patti ME, Lichtenstein AH. <i>J Pediatria<\/i>. Mar\u00e7o de 2005;146(3):336-41.<\/p>\n<p class=\"Title1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16129833\"><b>Inibindo<\/b>\u00a0<b>farnesila\u00e7\u00e3o<\/b>\u00a0de progerina previne a forma\u00e7\u00e3o de bolhas nucleares caracter\u00edsticas de Hutchinson-Gilford\u00a0<b>prog\u00e9ria<\/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 EUA<\/i>. 2005 Set 6;102(36):12879-84. Epub 2005 Ago 29<\/p>\n<p class=\"details\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15184648\"><b>Acumula\u00e7\u00e3o<\/b>\u00a0de\u00a0<b>mutant<\/b>\u00a0<b>l\u00e2mina A<\/b>\u00a0<b>causas<\/b>\u00a0mudan\u00e7as progressivas na arquitetura nuclear na 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 EUA<\/i>. 15 de junho de 2004;101(24):8963-8. Epub 2004, 7 de junho.<\/p>\n<h4><strong>Livros e Documentos<\/strong><\/h4>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20301300\" target=\"_blank\" rel=\"noopener noreferrer\">S\u00edndrome de Prog\u00e9ria de Hutchinson-Gilford.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. Em: Pagon RA, Bird TD, Dolan CR, Stephens K, editores. GeneReviews [Internet]. Seattle (WA): Universidade de Washington, Seattle; 1993-.<br \/>12 de dezembro de 2003 [atualizado em 06 de janeiro 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 Prog\u00e9ria de Hutchinson-Gilford.<\/a>\u00a0 Gordon LB, Brown WT, Collins FS. Em: Pagon RA, Bird TD, Dolan CR, Stephens K, editores. GeneReviews [Internet]. Seattle (WA): Universidade de Washington, Seattle; 1993-.<br \/>12 de dezembro de 2003 [atualizado em 06 de janeiro de 2011].<\/p>\n<p>S\u00edndrome do Envelhecimento Prematuro Hutchinson-Gilford Progeria: Insights Into Normal Aging. Gordon, Leslie. Cap\u00edtulo na 7\u00aa edi\u00e7\u00e3o de\u00a0<em>Manual de Medicina Geri\u00e1trica e Gerontologia de Brocklehurst<\/em>. Direitos autorais: 2010.<\/p>\n<p><em>LMNA<\/em>\u00a0e a S\u00edndrome de Progeria de Hutchinson-Gilford e Laminopatias Associadas. Gordon LB, Brown WT, Rothman FG. Em CJ Epstein, RP Erickson, A. Wynshaw-Boris (Eds.)<em>\u00a0Erros inatos do desenvolvimento: a base molecular dos dist\u00farbios cl\u00ednicos da morfog\u00eanese<\/em>\u00a0(2<sup>e<\/sup>\u00a0ed.). Nova Iorque, 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 module_class=\u201drodap\u00e9\u201d _builder_version=\u201d4.21.0\u2033 background_color=\u201d#29327a\u201d custom_margin=\u201d-2px|||||\u201d custom_padding=\u201d0|0px|0|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d12px\u201d border_color_top=\u201d#00b2e2\u2033 global_module=\u201d133\u2033 locked=\u201doff\u201d global_colors_info=\u201d{}\u201d][et_pb_row column_structure=\u201d1_4,1_4,1_2\u2033 make_equal=\u201don\u201d module_class=\u201d et_pb_row_fullwidth\u201d _builder_version=\u201d4.16\u2033 width=\u201d89%\u201d width_tablet=\u201d80%\u201d width_phone=\u201d\u201d width_last_edited=\u201don|desktop\u201d max_width=\u201d89%\u201d max_width_tablet=\u201d80%\u201d max_width_phone=\u201d\u201d 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border_radii=\u201dligado|25px|25px|25px|25px\u201d global_colors_info=\u201d{}\u201d button_bg_color__hover_enabled=\u201dligado\u201d button_bg_color__hover=\u201d#8fd2ed\u201d button_border_color__hover_enabled=\u201dligado\u201d]<\/p>\n<h2>Inscrever-se<\/h2>\n<h2>para o nosso<\/h2>\n<h2>Boletim informativo!<\/h2>\n<p>[\/et_pb_cta][\/et_pb_column][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:\/\/progeriaresearch.donorsupport.co\/-\/XZHJVWZR\u201d button_text=\u201dDoe agora\u201d admin_label=\u201dJuntos, encontraremos a 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\u00e3o_bg_color__hover=\u201d#8fd2ed\u201d bot\u00e3o_border_color__hover_enabled=\u201don\u201d]<\/p>\n<h2>Juntos, n\u00f3s<\/h2>\n<h2><em>VAI<\/em><\/h2>\n<h2>encontre a cura!<\/h2>\n<p>[\/et_pb_cta][\/et_pb_column][et_pb_column tipo=\u201d1_2\u2033 _builder_version=\u201d4.16\u2033 preenchimento_personalizado=\u201d|||\u201d global_colors_info=\u201d{}\u201d custom_padding__hover=\u201d|||\u201d][et_pb_image src=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2023\/06\/2023-footer-strip-5.png\u201d title_text=\u201dFaixa de rodap\u00e9 2023 5\u2033 _builder_version=\u201d4.21.0\u2033 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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=\u201dposi\u00e7\u00e3o de fundo: centro 18% !importante;\u201d global_colors_info=\u201d{}\u201d] Banco de Dados M\u00e9dicos [\/et_pb_fullwidth_header][\/et_pb_section][et_pb_section fb_built=\u201d1\u2033 use_custom_gutter=\u201don\u201d gutter_width=\u201d1\u2033 specialty=\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=\u201dsidebar-secondary-nav\u201d module_class=\u201dhandprint-bg\u201d _builder_version=\u201d4.16\u2033 background_image=\u201dhttps:\/\/www.progeriaresearch.org\/wp-content\/uploads\/2019\/04\/blue-handprint-only.png\u201d parallax=\u201dligado\u201d parallax_method=\u201ddesligado\u201d inner_width=\u201d100%\u201d inner_max_width=\u201d100%\u201d custom_padding=\u201d0|0px|54px|0px|false|false\u201d z_index_tablet=\u201d500\u2033 border_width_top=\u201d10px\u201d border_color_top=\u201d#8fd2ed\u201d use_custom_width=\u201dligado\u201d width_unit=\u201ddesligado\u201d custom_width_percent=\u201d100%\u201d [\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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