O-42 COSTA RICA NATIONAL NEWBORN SCREENING LABORATORY´S EXPERIENCE IN DIAGNOSING ALPHA-1 ANTITRYPSIN DEFICIENCY
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[ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">3</span>" "identificador" => "aff0003" ] ] ] 3 => array:3 [ "nombre" => "Danny" "apellidos" => "Alvarado-Romero" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">2</span>" "identificador" => "aff0002" ] ] ] 4 => array:3 [ "nombre" => "Natassia" "apellidos" => "Camacho-Matamoros" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">2</span>" "identificador" => "aff0002" ] ] ] 5 => array:3 [ "nombre" => "Mildred" "apellidos" => "Jiménez-Hernández" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">2</span>" "identificador" => "aff0002" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Costa Rica National Newborn Screening Laboratory, San José, Costa Rica" "etiqueta" => "1" "identificador" => "aff0001" ] 1 => array:3 [ "entidad" => "Costa Rican Social Security Fund, San José, Costa Rica" "etiqueta" => "2" "identificador" => "aff0002" ] 2 => array:3 [ "entidad" => "Costa Rican Association for the Screening and Prevention of Childhood Disabilities, San José, Costa Rica" "etiqueta" => "3" "identificador" => "aff0003" ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="para0012" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">Table 1.</span> Description of main probands phenotypes and genotypes in 25 of our patients<elsevierMultimedia ident="fig0001"></elsevierMultimedia></p><p id="para0013" class="elsevierStylePara elsevierViewall">* Only in 16 patients genotype was analyzed</p><p id="para0014" class="elsevierStylePara elsevierViewall">N/A: not analyzed.</p><p id="para0015" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">WT: Wild type.</span></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "tieneResumen" => true "resumen" => array:1 [ "en" => array:2 [ "resumen" => "<span id="abss0001" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0001">Introduction and Objectives</span><p id="spara001" class="elsevierStyleSimplePara elsevierViewall">Alpha-1 antitrypsin (AAT) is an acute-phase glycoprotein encoded by the <span class="elsevierStyleItalic">SERPINA1</span> gene. This allele has a codominant expression and Alpha-1 antitrypsin deficiency (AATD) is caused by the inheritance of two affected alleles. The spectrum of the disease depends on the variants and environmental and biological factors. This study aimed to divulge Costa Rica's experience in diagnosing AATD using biochemical and molecular approaches in patients referred to this center between 2014 and 2021.</p></span> <span id="abss0002" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0002">Materials and Methods</span><p id="spara002" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">:</span> Forty-three patients (20 males and 23 females) were analyzed.</p></span> <span id="abss0003" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0003">Biochemical parameters</span><p id="spara003" class="elsevierStyleSimplePara elsevierViewall">Serum AAT concentrations were quantified by turbidometry (SPIN200E, ®SPINREACT). Protein electrophoresis and phenotyping isoelectric electrophoresis were performed on the HYDRASYS 2 SCAN FOCUSING (SEBIA).</p></span> <span id="abss0004" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0004">Genetic characterization</span><p id="spara004" class="elsevierStyleSimplePara elsevierViewall">Sanger sequencing of the <span class="elsevierStyleItalic">SERPINA1</span> coding regions (NM_000295.5) was performed in 16 patients with rare electrophoretic patterns or MM phenotype with low AAT concentration.</p></span> <span id="abss0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0005">Results</span><p id="spara005" class="elsevierStyleSimplePara elsevierViewall">In 43 probands, we found an AAT mean value of 60.7mg/dl and eight different electrophoretic patterns. Most of our affected patients had an MZ or ZZ phenotype. Table 1 shows the main phenotypes and genotypes of our patients (N=25 patients); how some of them share the same electrophoretic pattern; and finally, the correlation between clinical severity and the biochemical phenotype. Our lab found two variants, one related to null phenotype and the other with uncertain clinical significance (VUS).</p></span> <span id="abss0006" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0006">Conclusions</span><p id="spara006" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleBold">:</span></p><p id="spara007" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleHsp" style=""></span>• This laboratory has developed an efficient and comprehensive algorithm diagnosis for AATD that involves biochemical and molecular tools.</p><p id="spara008" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleHsp" style=""></span>• Genetic analysis has allowed the identification of null variants (Q0Cork and Q0Lisbon).</p><p id="spara009" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleHsp" style=""></span>• AATD affects children and adults, with a broad severity spectrum and different clinical presentations.</p><p id="spara010" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleHsp" style=""></span>• Patients with one affected allele (e.g., PI*MZ, Pi*MS) might show some clinical manifestations.</p><p id="spara011" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleHsp" style=""></span>• Accurate diagnosis is essential for optimal clinical attention and to reduce the diagnostic odyssey.</p></span>" "secciones" => array:6 [ 0 => array:2 [ "identificador" => "abss0001" "titulo" => "Introduction and Objectives" ] 1 => array:2 [ "identificador" => "abss0002" "titulo" => "Materials and Methods" ] 2 => array:2 [ "identificador" => "abss0003" "titulo" => "Biochemical parameters" ] 3 => array:2 [ "identificador" => "abss0004" "titulo" => "Genetic characterization" ] 4 => array:2 [ "identificador" => "abss0005" "titulo" => "Results" ] 5 => array:2 [ "identificador" => "abss0006" "titulo" => "Conclusions" ] ] ] ] "multimedia" => array:1 [ 0 => array:6 [ "identificador" => "fig0001" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => false "mostrarDisplay" => true "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr37.jpeg" "Alto" => 919 "Ancho" => 1667 "Tamanyo" => 186516 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "alt0001" "detalle" => "Unlabelled imag" "rol" => "short" ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/16652681/00000028000000S1/v2_202308150516/S1665268123001539/v2_202308150516/en/main.assets" "Apartado" => null "PDF" => "https://static.elsevier.es/multimedia/16652681/00000028000000S1/v2_202308150516/S1665268123001539/v2_202308150516/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1665268123001539?idApp=UINPBA00004N" ]
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