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array:23 [ "pii" => "S0025775301717502" "issn" => "00257753" "doi" => "10.1016/S0025-7753(01)71750-2" "estado" => "S300" "fechaPublicacion" => "2001-01-01" "aid" => "71750" "copyright" => "Elsevier España, S.L.. Todos los derechos reservados" "copyrightAnyo" => "2001" "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "Med Clin. 2001;116:138-41" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 2275 "formatos" => array:3 [ "EPUB" => 5 "HTML" => 1939 "PDF" => 331 ] ] "itemSiguiente" => array:18 [ "pii" => "S0025775301717514" "issn" => "00257753" "doi" => "10.1016/S0025-7753(01)71751-4" "estado" => "S300" "fechaPublicacion" => "2001-01-01" "aid" => "71751" "copyright" => "Elsevier España, S.L." "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "Med Clin. 2001;116:142-5" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 2838 "formatos" => array:3 [ "EPUB" => 7 "HTML" => 2091 "PDF" => 740 ] ] "es" => array:8 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Artículo Especial</span>" "titulo" => "Eutanasia y cuidados paliativos: ¿amistades peligrosas?" 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"documento" => "simple-article" "crossmark" => 0 "subdocumento" => "edi" "cita" => "Med Clin. 2001;116:136-7" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 2017 "formatos" => array:3 [ "EPUB" => 5 "HTML" => 1735 "PDF" => 277 ] ] "es" => array:8 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Editorial</span>" "titulo" => "Papel de la atención primaria de salud frente a los problemas derivados del consumo de bebidas alcohólicas" "tienePdf" => "es" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "136" "paginaFinal" => "137" ] ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Antoni Gual, Joan Colom" "autores" => array:2 [ 0 => array:2 [ "nombre" => "Antoni" "apellidos" => "Gual" ] 1 => array:2 [ "nombre" => "Joan" "apellidos" => "Colom" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775301717496?idApp=UINPBA00004N" "url" => "/00257753/0000011600000004/v1_201307291415/S0025775301717496/v1_201307291415/es/main.assets" ] "es" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Nota Clínica</span>" "titulo" => "Identificación y caracterización del primer español con defecto homocigoto familiar de unión de la apolipoproteína B" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "138" "paginaFinal" => "141" ] ] "autores" => array:2 [ 0 => array:4 [ "autoresLista" => "José Tomás Real, Ismael Ejarque, Miguel Civera, Juan Francisco Ascaso, Rafael Carmena" "autores" => array:5 [ 0 => array:3 [ "nombre" => "José" "apellidos" => "Tomás Real" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Ismael" "apellidos" => "Ejarque" ] 2 => array:2 [ "nombre" => "Miguel" "apellidos" => "Civera" ] 3 => array:2 [ "nombre" => "Juan" "apellidos" => "Francisco Ascaso" ] 4 => array:2 [ "nombre" => "Rafael" "apellidos" => "Carmena" ] ] "afiliaciones" => array:1 [ 0 => array:1 [ "entidad" => "Servicio de Endocrinología y Nutrición. Hospital Clínico Universitario. Universidad de Valencia." ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondence: Servicio de Endocrinología y Nutrición. Hospital Clínico Universitario de Valencia. Avda. Blasco Ibáñez, 15. 46010 Valencia." ] ] ] 1 => array:3 [ "autoresLista" => "Javier Francisco Chaves, José Javier Martín de Llano, Ervin Knecht, María Eugenia Armengod" "autores" => array:4 [ 0 => array:3 [ "nombre" => "Javier" "apellidos" => "Francisco Chaves" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "José" "apellidos" => "Javier Martín de Llano" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Ervin" "apellidos" => "Knecht" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "María" "apellidos" => "Eugenia Armengod" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:1 [ 0 => array:3 [ "entidad" => "Instituto de Investigaciones Citológicas de Valencia (FVIB)." "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Identification and characterization of the first spanish familial ligand-defective apolipoprotein B homozygote" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2000-07-17" "fechaAceptado" => "2000-12-12" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras Clave" "identificador" => "xpalclavsec220789" "palabras" => array:6 [ 0 => "Defecto familiar de unión de apolipoproteína B" 1 => "Homocigosis" 2 => "Mutación R3500Q" 3 => "Análisis por PCR-SSCP" 4 => "Gen de la apo B" 5 => "Actividad del receptor de LDL" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec220790" "palabras" => array:5 [ 0 => "Homozygous familial ligand-defective apolipoprotein B" 1 => "R3500Q mutation" 2 => "SSCP analysis" 3 => "Apo B gene" 4 => "LDL receptor activity" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Fundamento</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El defecto familiar de unión de la apolipoproteína B-100 (DFB) es una enfermedad hereditaria autosómica dominante debida a mutaciones localizadas en el gen de la apolipoproteína B-100, clínicamente indistinguible de la hipercolesterolemia familiar. Describimos el primer homocigoto español para el DFB.</p> <span class="elsevierStyleSectionTitle">Métodos</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Estudiamos por técnica de PCR–SSCP la mutación R3500Q en los familiares de primer y segundo grado de la familia con DFB previamente descrita por nuestro grupo. Además, analizamos la actividad del receptor de LDL en un ensayo con LDL conjugada con oro coloidal.</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">El paciente presenta en ambos alelos la mutación R3500Q causante de DFB. El estudio de la actividad del receptor de LDL es normal, lo que descarta que se trate de una hipercolesterolemia familiar. El grado de hipercolesterolemia es menor del esperado tratándose de un homocigoto (colesterol total, 415, y cLDL, 352 mg/dl), y presenta una buena respuesta terapéutica a estatinas y resins (descensos de hasta un 42% para el colesterol total y de un 51% para el cLDL).</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Hemos detectado y caracterizado el primer homocigoto español para el DFB (mutación R3500Q), que presenta valores moderadamente elevados de colesterol total y cLDL a pesar de su situación de homocigosis. Estos datos demuestran que el fenotipo lipoproteico de los homocigotos DFB es diferente de la situación de homocigosis para la hipercolesterolemia familiar.</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Background</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Familial ligand-defective apolipoprotein B 100 (FDB) is an autosomal inherited disease due to mutations on apo B 100, clinically indistinguishable from familial hypercholesterolemia (FH). We described the first Spanish homozygote for FDB.</p> <span class="elsevierStyleSectionTitle">Methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">We have screened R3500Q mutation of apo B gene (PCR-SSCP analysis) in a large family with FDB and have identified the first Spanish homozygote for FDB.</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">The homozygote is a 58 year-old man with coronary heart disease, no presence of xanthomata and with total cholesterol and LDL cholesterol plasma levels of 415 and 352 mg/dl. The response to statins and resins was up to 42% for total cholesterol and 51% for LDLc plasma values. The LDL receptor activity was normal in the FDB homozygote.</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">We have identified and characterised the first Spanish homozygote for FDB (R3500Q mutation). Our data indicate a moderate lipoprotein phenotype in FDB homozygote, different as expected comparing to homozygous FH.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Referencias Bibliográficas" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs00045" "bibliografiaReferencia" => array:19 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Familial defective apolipoprotein B- 100: a review, including some comparison with familial hypercholesterolemia" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "N.B. 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Goldstein" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/humu.1380010602" "Revista" => array:6 [ "tituloSerie" => "Hum Mutat" "fecha" => "1992" "volumen" => "1" "paginaInicial" => "445" "paginaFinal" => "466" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/1301956" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Estudio del defecto familiar de la apo B-100 en sujetos con el diagnóstico clínico de hipercolesterolemia primaria: identificación de la primera familia afectada en España" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "J.T. Real" 1 => "F.J. Chaves" 2 => "J.F. Ascaso" 3 => "M.E. Armengod" 4 => "R. 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