Programa de cribado para el déficit de α-antitripsina en pacientes con EPOC mediante el uso de gota de sangre en papel secante
Screening program for alpha-1 antitrypsin deficiency in patients with chronic obstructive pulmonary disease, using dried blood spots on filter paper
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"apellidos" => "De La Roza" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "X." "apellidos" => "Costa" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "R." "apellidos" => "Vidal" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:3 [ "nombre" => "S." "apellidos" => "Vilá" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:3 [ "nombre" => "F." "apellidos" => "Rodríguez-Frías" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 5 => array:3 [ "nombre" => "R." "apellidos" => "Jardí" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 6 => array:4 [ "nombre" => "M." "apellidos" => "Miravitlles" "email" => array:1 [ 0 => "marcm@separ.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Neumología. Institut Clínic de Pneumologia i Cirurgia Toràcica (IDIBAPS). Hospital Clínic i Provincial. Barcelona" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Bioquímica. Hospital General Vall d'Hebron. Barcelona. España" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Neumología. Hospital General Vall d'Hebron, Barcelona. España" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Servicio de Neumología (Uvir, esc. 2, planta 3). Hospital Clínic i Provincial.Villarroel, 170. 08036 Barcelona. España" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Screening program for alpha-1 antitrypsin deficiency in patients with chronic obstructive pulmonary disease, using dried blood spots on filter paper" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2002-02-22" "fechaAceptado" => "2002-07-17" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec190531" "palabras" => array:4 [ 0 => "Déficit de α-antitripsina" 1 => "Cribado" 2 => "Prevalencia" 3 => "EPOC" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec190532" "palabras" => array:4 [ 0 => "Alpha-1 antitrypsin deficiency" 1 => "Screening" 2 => "Prevalence" 3 => "COPD" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El déficit de α-antitripsina (AAT) es una enfermedad in-fradiagnosticada, por lo que se recomienda establecer pro-gramas de cribado en pacientes con EPOC. Presentamos los resultados de la fase piloto de un programa de cribado del déficit de AAT, con el objetivo de evaluar la técnica utiliza-da, los circuitos de envío de muestras y los resultados obte-nidos</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Participaron en el estudio 5 centros, que recogieron du-rante el período de un mes muestras de todos los pacientes con EPOC en los que nunca se hubieran determinado las concentraciones plasmáticas de AAT o el fenotipo Pi. Se aplicaron gotas de sangre capilar sobre discos de papel se-cante, que posteriormente se enviaban por correo postal al laboratorio central del estudio. Las muestras se procesaron para la determinación cuantitativa de los valores de AAT mediante un método de inmunonefelometría y, para la de-terminación del genotipo de AAT, con un analizador de ADN del tipo LightCycler. Se analizaron muestras de 86 pa-cientes con EPOC (76 varones, 10 mujeres) con una edad media de 68,2 años. En 74 pacientes (86%) se descartó el dé-ficit por presentar concentraciones de AAT por encima del punto de corte establecido, aunque uno de ellos fue heteroci-goto MZ por genotipificación. De los 12 restantes (13,9%), sólo 2 individuos presentaban también un alelo Z. El resto correspondió a pacientes con concentraciones por debajo del umbral establecido y sin evidencia del alelo Z (10 pacientes; 11,6%). La frecuencia observada del alelo Z (3/172; 1,74%) es muy similar a la encontrada en la población general</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Los resultados de esta fase inicial permiten comprobar el correcto funcionamiento del circuito utilizado para la obten-ción y envío de las muestras. Es un método aplicable, cómo-do y bien aceptado por los médicos participantes y permite la cuantificación de AAT, así como la detección del alelo de-ficitario Z en las muestras con una excelente correlación con las técnicas estándar que usan muestras de sangre total</p>" ] "en" => array:1 [ "resumen" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Alpha-1 antitrypsin (AAT) deficiency is an under-diagno-sed disease and screening programs have therefore been re-commended for patients with chronic obstructive pulmo-nary disease (COPD). We present the results of the pilot phase of a screening program for AAT deficiency in order to evaluate the technique used, the procedures for transpor-ting samples and the results obtained</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Over a period of one month, five centers collected samples from all COPD patients for whom plasma concentrations of AAT or Pi phenotype had not yet been determined. Capillary blood spots were dried on filter paper and then sent by surface mail to a central laboratory for study. An immunonephelome-tric assay was used to determine AAT and DNA phenotyping was done by use of a Light Cycler. Samples were analyzed from 86 COPD patients (76 men, 10 women) with a mean age of 68.2 years. AAT deficiency was ruled out for 74 patients (86%) who had concentrations above the cutoff established, although one of them was MZ heterozygote by genotype. Among the 12 remaining patients (13.9%), only two also had a Z allele. The rest were individuals with concentrations below the established threshold and no evidence of a Z allele (10 patients, 11.6%). The Z allele frequency observed (3/172; 1.74%) was very similar to that found in the general population</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">The results of this pilot study allowed us to confirm that the method used to collect samples worked well. The sam-pling method is applicable, easy and well-accepted by partici-pating physicians. It allowed AAT concentrations and Z allele deficiency to be determined. The method correlates well with standard techniques used for samples in whole blood</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:17 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Alfa-1-antitrypsin deficiency. A conformational disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "R.W. Carrel" 1 => "D.A. Lomas" 2 => "S. Sidhar" 3 => "R. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 2 | 2 | 4 |
| 2024 October | 35 | 23 | 58 |
| 2024 September | 35 | 14 | 49 |
| 2024 August | 48 | 38 | 86 |
| 2024 July | 34 | 26 | 60 |
| 2024 June | 63 | 30 | 93 |
| 2024 May | 59 | 35 | 94 |
| 2024 April | 28 | 22 | 50 |
| 2024 March | 38 | 28 | 66 |
| 2024 February | 27 | 34 | 61 |
| 2024 January | 0 | 1 | 1 |
| 2023 December | 0 | 5 | 5 |
| 2023 November | 0 | 4 | 4 |
| 2023 October | 0 | 3 | 3 |
| 2023 July | 0 | 4 | 4 |
| 2023 June | 0 | 16 | 16 |
| 2023 March | 3 | 5 | 8 |
| 2023 February | 39 | 18 | 57 |
| 2023 January | 24 | 38 | 62 |
| 2022 December | 30 | 35 | 65 |
| 2022 November | 44 | 17 | 61 |
| 2022 October | 41 | 32 | 73 |
| 2022 September | 27 | 25 | 52 |
| 2022 August | 39 | 44 | 83 |
| 2022 July | 34 | 31 | 65 |
| 2022 June | 37 | 37 | 74 |
| 2022 May | 35 | 32 | 67 |
| 2022 April | 41 | 34 | 75 |
| 2022 March | 42 | 24 | 66 |
| 2022 February | 43 | 23 | 66 |
| 2022 January | 31 | 29 | 60 |
| 2021 December | 24 | 45 | 69 |
| 2021 November | 28 | 55 | 83 |
| 2021 October | 26 | 40 | 66 |
| 2021 September | 27 | 45 | 72 |
| 2021 August | 17 | 42 | 59 |
| 2021 July | 27 | 30 | 57 |
| 2021 June | 23 | 36 | 59 |
| 2021 May | 27 | 28 | 55 |
| 2021 April | 38 | 25 | 63 |
| 2021 March | 39 | 38 | 77 |
| 2021 February | 57 | 14 | 71 |
| 2021 January | 25 | 20 | 45 |
| 2020 December | 22 | 28 | 50 |
| 2020 November | 12 | 14 | 26 |
| 2020 October | 30 | 10 | 40 |
| 2020 September | 20 | 6 | 26 |
| 2020 August | 33 | 8 | 41 |
| 2020 July | 36 | 21 | 57 |
| 2020 June | 20 | 8 | 28 |
| 2020 May | 42 | 18 | 60 |
| 2020 April | 45 | 13 | 58 |
| 2020 March | 40 | 19 | 59 |
| 2020 February | 36 | 21 | 57 |
| 2020 January | 72 | 24 | 96 |
| 2019 December | 42 | 29 | 71 |
| 2019 November | 9 | 14 | 23 |
| 2019 October | 22 | 12 | 34 |
| 2019 September | 11 | 17 | 28 |
| 2019 August | 15 | 8 | 23 |
| 2019 July | 29 | 30 | 59 |
| 2019 June | 18 | 22 | 40 |
| 2019 May | 20 | 61 | 81 |
| 2019 April | 51 | 33 | 84 |
| 2019 March | 27 | 18 | 45 |
| 2019 February | 12 | 12 | 24 |
| 2019 January | 14 | 12 | 26 |
| 2018 December | 21 | 17 | 38 |
| 2018 November | 30 | 17 | 47 |
| 2018 October | 58 | 19 | 77 |
| 2018 September | 44 | 9 | 53 |
| 2018 May | 15 | 4 | 19 |
| 2018 April | 16 | 2 | 18 |
| 2018 March | 9 | 7 | 16 |
| 2018 February | 20 | 14 | 34 |
| 2018 January | 15 | 11 | 26 |
| 2017 December | 23 | 16 | 39 |
| 2017 November | 16 | 12 | 28 |
| 2017 October | 13 | 9 | 22 |
| 2017 September | 13 | 14 | 27 |
| 2017 August | 13 | 16 | 29 |
| 2017 July | 20 | 8 | 28 |
| 2017 June | 29 | 37 | 66 |
| 2017 May | 19 | 15 | 34 |
| 2017 April | 10 | 5 | 15 |
| 2017 March | 10 | 15 | 25 |
| 2017 February | 16 | 15 | 31 |
| 2017 January | 20 | 16 | 36 |
| 2016 December | 62 | 28 | 90 |
| 2016 November | 103 | 36 | 139 |
| 2016 October | 100 | 36 | 136 |
| 2016 September | 81 | 19 | 100 |
| 2016 August | 55 | 10 | 65 |
| 2016 July | 66 | 8 | 74 |
| 2016 June | 63 | 13 | 76 |
| 2016 May | 64 | 10 | 74 |
| 2016 April | 66 | 2 | 68 |
| 2016 March | 50 | 3 | 53 |
| 2016 February | 60 | 4 | 64 |
| 2016 January | 58 | 13 | 71 |
| 2015 December | 56 | 18 | 74 |
| 2015 November | 71 | 15 | 86 |
| 2015 October | 16 | 2 | 18 |
| 2015 September | 2 | 0 | 2 |
| 2015 August | 1 | 0 | 1 |
| 2015 April | 1 | 0 | 1 |
Show all
