Implications of the new etiophatogenic approach in the classification of constitutional and genetic bone diseases
Implicaciones del nuevo enfoque etiopatogénico en la clasificación de las enfermedades constitucionales y genéticas del hueso
Antonio Morales Piga
, Verónica Alonso Ferreira, Ana Villaverde-Hueso
Corresponding author
Instituto de Investigación de Enfermedades Raras, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
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Blanco, Max Brosa, Diana Nieves" "autores" => array:8 [ 0 => array:2 [ "nombre" => "Javier" "apellidos" => "Vidal" ] 1 => array:2 [ "nombre" => "Pere" "apellidos" => "Benito" ] 2 => array:2 [ "nombre" => "Anna" "apellidos" => "Manresa" ] 3 => array:2 [ "nombre" => "Domingo" "apellidos" => "Ly-Pen" ] 4 => array:2 [ "nombre" => "Enrique" "apellidos" => "Batlle" ] 5 => array:2 [ "nombre" => "Francisco J." "apellidos" => "Blanco" ] 6 => array:2 [ "nombre" => "Max" "apellidos" => "Brosa" ] 7 => array:2 [ "nombre" => "Diana" "apellidos" => "Nieves" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173574311700533?idApp=UINPBA00004M" "url" => "/21735743/0000000700000004/v1_201305061625/S2173574311700533/v1_201305061625/en/main.assets" ] "en" => array:14 [ "idiomaDefecto" => true "titulo" => "Implications of the new etiophatogenic approach in the classification of constitutional and genetic bone diseases" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "248" "paginaFinal" => "254" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Antonio Morales Piga, Verónica Alonso Ferreira, Ana Villaverde-Hueso" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Antonio" "apellidos" => "Morales Piga" "email" => array:1 [ 0 => "amorales@isciii.es" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">¿</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Verónica" "apellidos" => "Alonso Ferreira" ] 2 => array:2 [ "nombre" => "Ana" "apellidos" => "Villaverde-Hueso" ] ] "afiliaciones" => array:1 [ 0 => array:1 [ "entidad" => "Instituto de Investigación de Enfermedades Raras, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Implicaciones del nuevo enfoque etiopatogénico en la clasificación de las enfermedades constitucionales y genéticas del hueso" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2010-07-30" "fechaAceptado" => "2010-11-21" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec112788" "palabras" => array:3 [ 0 => "Molecular alterations" 1 => "Bone genetic diseases" 2 => "Osteochondrodysplasia" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec112787" "palabras" => array:3 [ 0 => "Alteraciones moleculares" 1 => "Enfermedades óseas genéticas" 2 => "Osteocondrodisplasias" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Recent years have seen an unprecedented increase in the knowledge and understanding of biochemical disturbances involved on constitutional bone disorders. Recognition of the genetic background as the common cause of these diseases prompted the substitution of the term “constitutional” by “genetic”, in referring to them. Understanding physiopathological bases by finding out the altered metabolic pathways as well as their regulatory and control systems, favours an earlier and more accurate diagnosis based on interdisciplinary collaboration. Although clinical and radiological assessment remains crucial in the study of these disorders, ever more often the diagnosis is achieved by molecular and genetic analysis. Elucidation of the damaged underlying molecular mechanisms offers targets potentially useful for therapeutic research in these complex and often disabling diseases.</p>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">El avance en el conocimiento de las alteraciones bioquímicas que causan las enfermedades constitucionales óseas no tiene precedentes. La constatación de que su característica esencial es el trasfondo genético común a todas ellas ha dado lugar a una propuesta de alcance: sustituir el término «constitucionales» por «genéticas» para referirse a estas entidades. La comprensión de los mecanismos fisiopatológicos implicados, identificando el punto exacto de la vía metabólica alterada y sus sistemas de regulación y control, facilita realizar un diagnóstico preciso, basado en la colaboración interdisciplinar, en un tiempo muy inferior del que requería el enfoque tradicional. Además, aunque la correcta valoración de las manifestaciones clínicas y radiológicas sigue siendo crucial, el diagnóstico de certeza se basa cada vez con mayor frecuencia en la aplicación de las nuevas técnicas de análisis genético y molecular. Por último, el esclarecimiento de las complejas alteraciones subyacentes a estos trastornos descubre unas dianas moleculares de gran utilidad potencial en la investigación terapéutica de unas enfermedades que a menudo limitan de manera notable la calidad de vida y que, casi sin excepciones, todavía carecen de un tratamiento eficaz.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:54 [ 0 => array:3 [ "identificador" => "bib1" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Displasias óseas" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "F. Collado Otero" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Libro" => array:4 [ "titulo" => "Patología infantil estructurada. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 7 | 16 | 23 |
| 2024 October | 29 | 30 | 59 |
| 2024 September | 27 | 19 | 46 |
| 2024 August | 34 | 33 | 67 |
| 2024 July | 24 | 37 | 61 |
| 2024 June | 26 | 32 | 58 |
| 2024 May | 37 | 33 | 70 |
| 2024 April | 21 | 21 | 42 |
| 2024 March | 19 | 31 | 50 |
| 2024 February | 30 | 28 | 58 |
| 2024 January | 14 | 29 | 43 |
| 2023 December | 15 | 29 | 44 |
| 2023 November | 17 | 31 | 48 |
| 2023 October | 23 | 46 | 69 |
| 2023 September | 26 | 41 | 67 |
| 2023 August | 13 | 29 | 42 |
| 2023 July | 15 | 18 | 33 |
| 2023 June | 16 | 30 | 46 |
| 2023 May | 14 | 13 | 27 |
| 2023 April | 11 | 13 | 24 |
| 2023 March | 16 | 21 | 37 |
| 2023 February | 17 | 24 | 41 |
| 2023 January | 16 | 14 | 30 |
| 2022 December | 24 | 32 | 56 |
| 2022 November | 17 | 24 | 41 |
| 2022 October | 20 | 30 | 50 |
| 2022 September | 17 | 36 | 53 |
| 2022 August | 17 | 42 | 59 |
| 2022 July | 17 | 42 | 59 |
| 2022 June | 17 | 46 | 63 |
| 2022 May | 26 | 51 | 77 |
| 2022 April | 17 | 48 | 65 |
| 2022 March | 27 | 62 | 89 |
| 2022 February | 17 | 46 | 63 |
| 2022 January | 17 | 47 | 64 |
| 2021 December | 15 | 42 | 57 |
| 2021 November | 21 | 57 | 78 |
| 2021 October | 71 | 48 | 119 |
| 2021 September | 27 | 42 | 69 |
| 2021 August | 25 | 56 | 81 |
| 2021 July | 17 | 47 | 64 |
| 2021 June | 15 | 39 | 54 |
| 2021 May | 29 | 49 | 78 |
| 2021 April | 56 | 133 | 189 |
| 2021 March | 27 | 46 | 73 |
| 2021 February | 29 | 33 | 62 |
| 2021 January | 23 | 29 | 52 |
| 2020 December | 15 | 18 | 33 |
| 2020 November | 23 | 17 | 40 |
| 2020 October | 13 | 19 | 32 |
| 2020 September | 16 | 22 | 38 |
| 2020 August | 18 | 22 | 40 |
| 2020 July | 13 | 18 | 31 |
| 2020 June | 20 | 23 | 43 |
| 2020 May | 26 | 14 | 40 |
| 2020 April | 15 | 10 | 25 |
| 2020 March | 9 | 9 | 18 |
| 2020 February | 1 | 0 | 1 |
| 2020 January | 4 | 0 | 4 |
| 2019 September | 4 | 0 | 4 |
| 2019 June | 2 | 0 | 2 |
| 2019 March | 2 | 0 | 2 |
| 2019 January | 1 | 0 | 1 |
| 2018 May | 4 | 3 | 7 |
| 2018 April | 11 | 17 | 28 |
| 2018 March | 31 | 23 | 54 |
| 2018 February | 12 | 9 | 21 |
| 2018 January | 12 | 7 | 19 |
| 2017 December | 8 | 11 | 19 |
| 2017 November | 11 | 6 | 17 |
| 2017 October | 19 | 9 | 28 |
| 2017 September | 17 | 6 | 23 |
| 2017 August | 9 | 7 | 16 |
| 2017 July | 12 | 12 | 24 |
| 2017 June | 24 | 16 | 40 |
| 2017 May | 31 | 15 | 46 |
| 2017 April | 27 | 11 | 38 |
| 2017 March | 27 | 11 | 38 |
| 2017 February | 9 | 5 | 14 |
| 2017 January | 16 | 7 | 23 |
| 2016 December | 43 | 11 | 54 |
| 2016 November | 29 | 6 | 35 |
| 2016 October | 39 | 12 | 51 |
| 2016 September | 30 | 3 | 33 |
| 2016 August | 23 | 6 | 29 |
| 2016 July | 16 | 8 | 24 |
| 2016 June | 2 | 5 | 7 |
| 2016 May | 0 | 6 | 6 |
| 2016 April | 2 | 15 | 17 |
| 2016 March | 0 | 12 | 12 |
| 2016 February | 3 | 7 | 10 |
| 2015 December | 7 | 0 | 7 |
| 2015 October | 1 | 16 | 17 |
| 2015 September | 1 | 0 | 1 |
| 2015 August | 1 | 0 | 1 |
| 2015 July | 18 | 7 | 25 |
| 2015 June | 29 | 28 | 57 |
| 2015 May | 53 | 34 | 87 |
| 2015 April | 46 | 11 | 57 |
| 2015 March | 35 | 10 | 45 |
| 2015 February | 39 | 9 | 48 |
| 2015 January | 21 | 11 | 32 |
| 2014 December | 30 | 13 | 43 |
| 2014 November | 18 | 16 | 34 |
| 2014 October | 20 | 14 | 34 |
| 2014 September | 14 | 30 | 44 |
| 2014 August | 14 | 47 | 61 |
| 2014 July | 24 | 19 | 43 |
| 2014 June | 38 | 20 | 58 |
| 2014 May | 40 | 41 | 81 |
| 2014 April | 43 | 26 | 69 |
| 2014 March | 45 | 24 | 69 |
| 2014 February | 63 | 22 | 85 |
| 2014 January | 38 | 21 | 59 |
| 2013 December | 25 | 9 | 34 |
| 2013 November | 24 | 16 | 40 |
| 2013 October | 37 | 22 | 59 |
| 2013 September | 38 | 13 | 51 |
| 2013 August | 52 | 19 | 71 |
| 2013 July | 34 | 7 | 41 |
| 2013 June | 33 | 14 | 47 |
| 2013 May | 29 | 12 | 41 |
| 2013 April | 31 | 25 | 56 |
| 2013 March | 31 | 22 | 53 |
| 2013 February | 37 | 13 | 50 |
| 2013 January | 26 | 12 | 38 |
| 2012 December | 21 | 16 | 37 |
| 2012 November | 19 | 13 | 32 |
| 2012 October | 11 | 6 | 17 |
| 2012 September | 9 | 5 | 14 |
| 2012 June | 3 | 0 | 3 |
| 2012 April | 5 | 0 | 5 |
| 2012 March | 5 | 0 | 5 |
| 2012 February | 5 | 0 | 5 |
| 2012 January | 2 | 0 | 2 |
| 2011 December | 5 | 0 | 5 |
| 2011 November | 4 | 0 | 4 |
| 2011 October | 1 | 0 | 1 |
| 2011 September | 1 | 0 | 1 |
| 2011 July | 5 | 0 | 5 |
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