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array:23 [ "pii" => "S2531137922013505" "issn" => "25311379" "doi" => "10.1016/j.htct.2022.09.1226" "estado" => "S300" "fechaPublicacion" => "2022-10-01" "aid" => "3461.19" "copyrightAnyo" => "2022" "documento" => "simple-article" "crossmark" => 0 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "abs" "cita" => "Hematol Transfus Cell Ther. 2022;44 Supl 1:S22-S23" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "itemSiguiente" => array:18 [ "pii" => "S2531137922013517" "issn" => "25311379" "doi" => "10.1016/j.htct.2022.09.1227" "estado" => "S300" "fechaPublicacion" => "2022-10-01" "aid" => "3461.20" "documento" => "simple-article" "crossmark" => 0 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "abs" "cita" => "Hematol Transfus Cell Ther. 2022;44 Supl 1:S23" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">HEMOGLOBINOPATHIES (SICKLE CELL DISEASE, THALASSEMIA ETC...)</span><span class="elsevierStyleDochead"><span class="elsevierStyleTextfn">OP 20</span></span>" "titulo" => "Comparison of the quality of life of patients with a beta-thalassemia major, regularly receiving parenteral and oral chelators" "tienePdf" => "en" "tieneTextoCompleto" => 0 "tieneResumen" => "en" "paginas" => array:1 [ 0 => array:1 [ "paginaInicial" => "S23" ] ] "contieneResumen" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Samira Hasanova, Azer Kerimov, Khanum Hamidova, Konul Baghirova" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Samira" "apellidos" => "Hasanova" ] 1 => array:2 [ "nombre" => "Azer" "apellidos" => "Kerimov" ] 2 => array:2 [ "nombre" => "Khanum" "apellidos" => "Hamidova" ] 3 => array:2 [ "nombre" => "Konul" "apellidos" => "Baghirova" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2531137922013517?idApp=UINPBA00005G" "url" => "/25311379/00000044000000S1/v2_202210180659/S2531137922013517/v2_202210180659/en/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S2531137922013499" "issn" => "25311379" "doi" => "10.1016/j.htct.2022.09.1225" "estado" => "S300" "fechaPublicacion" => "2022-10-01" "aid" => "3461.18" "documento" => "simple-article" "crossmark" => 0 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "abs" "cita" => "Hematol Transfus Cell Ther. 2022;44 Supl 1:S22" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">LEUKEMIA</span><span class="elsevierStyleDochead"><span class="elsevierStyleTextfn">OP 18</span></span>" "titulo" => "Evaluation of MRD-status in post-induction period in pediatric patients with acute lymphoblastic leukemia." "tienePdf" => "en" "tieneTextoCompleto" => 0 "tieneResumen" => "en" "paginas" => array:1 [ 0 => array:1 [ "paginaInicial" => "S22" ] ] "contieneResumen" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Meri Shervashidze, Alexandra Palladina, Timur Valiev" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Meri" "apellidos" => "Shervashidze" ] 1 => array:2 [ "nombre" => "Alexandra" "apellidos" => "Palladina" ] 2 => array:2 [ "nombre" => "Timur" "apellidos" => "Valiev" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2531137922013499?idApp=UINPBA00005G" "url" => "/25311379/00000044000000S1/v2_202210180659/S2531137922013499/v2_202210180659/en/main.assets" ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">INHERITED BONE MARROW FAILURE DISEASES</span><span class="elsevierStyleDochead"><span class="elsevierStyleTextfn">OP 19</span></span>" "titulo" => "Ghosal hematodiaphyseal dysplasia (GHDD) diagnosis and treatment: case report" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "S22" "paginaFinal" => "S23" ] ] "autores" => array:1 [ 0 => array:3 [ "autoresLista" => "Gular MAMMADOVA, Samira HASANOVA, Konul BAGHIROVA, Avesta ALLAHVERDIYEVA, Narmin EYVAZOVA, Adam NAJAFLI, Kamala MAMMADOVA, Afag NASIBOVA, Valeh HUSEYNOV" "autores" => array:9 [ 0 => array:3 [ "nombre" => "Gular" "apellidos" => "MAMMADOVA" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] ] ] 1 => array:3 [ "nombre" => "Samira" "apellidos" => "HASANOVA" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] ] ] 2 => array:3 [ "nombre" => "Konul" "apellidos" => "BAGHIROVA" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] ] ] 3 => array:3 [ "nombre" => "Avesta" "apellidos" => "ALLAHVERDIYEVA" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] ] ] 4 => array:3 [ "nombre" => "Narmin" "apellidos" => "EYVAZOVA" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] ] ] 5 => array:3 [ "nombre" => "Adam" "apellidos" => "NAJAFLI" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] ] ] 6 => array:3 [ "nombre" => "Kamala" "apellidos" => "MAMMADOVA" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] ] ] 7 => array:3 [ "nombre" => "Afag" "apellidos" => "NASIBOVA" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">1</span>" "identificador" => "aff0001" ] ] ] 8 => array:3 [ "nombre" => "Valeh" "apellidos" => "HUSEYNOV" "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:2 [ 0 => array:3 [ "entidad" => "Azerbaijan National Hematology and Transfusiology Center" "etiqueta" => "1" "identificador" => "aff0001" ] 1 => array:3 [ "entidad" => "Azerbaijan National Hematology and Transfusiology Center" "etiqueta" => "2" "identificador" => "aff0002" ] ] ] ] "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">Objective</span><p id="spara001" class="elsevierStyleSimplePara elsevierViewall">Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare authosomal ressesive disorder characterized by increased bone density and regenerative corticosteroid-sensitive anemia.We describe GHDD in an 11-year old Azerbaijani boy with refractory anemia,mild thrombocytopenia and radiological metadiaphyseal dysplasia.The diagnosis was made based on clinical and laboratory examinations and genetic analysis.We have observed a significant improvement of anemia after administration of steroids.</p></span> <span id="abss0002" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0002">Case report</span><p id="spara002" class="elsevierStyleSimplePara elsevierViewall">An 11-year-old boy with long-standing anemia, complained of fatigue,delayed physical development,and limited range of motion in the joint.Physical examination did not reveal LAP and hepatosplenomegaly.Among the dysmorphic craniofacial changes mentioned in the literature, has a tower-shaped skull,micrognotia,drooping ears,a long and wide philtrum,and a thin upper lip.Skeletal X-ray imaging showed fibrotic changes and varying degrees of osteopenia in the metaphysis of the long tubular bones.</p></span> <span id="abss0003" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0003">Methodology</span><p id="spara003" class="elsevierStyleSimplePara elsevierViewall">The blood count: Hb 7.0 g/dl,HCT 24.5%,reticulocytes 5.6%,MCV 78fL,MCHC 28.6 g/dl,WBC count 6860/mm3,platelets 165000/mm3,ESR 75 mm/h,anisocytosis in erythrocytes and platelets were observed in a peripheral blood smear.Hemoglobin electrophoresis,iron studies,vitamin B12 and folic acid were normal.Coombs test was negative.Bone marrow examination showed hypoplasia in erythroid and megakaryocytic series and dysgranulocytopoiesis.</p></span> <span id="abss0004" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0004">Results</span><p id="spara004" class="elsevierStyleSimplePara elsevierViewall">After detection of exon 12 ((p.Gly473Trp),rs149988492,CM215867) in the genetic panel analysis of anemia,steroid treatment at a dose of 1 mg/kg/day was started and anemia improved at 1-month follow-up (Hb level 6.8 g/dL to 11.9 g/dL),but mild thrombocytopenia was noted to persist.The clinically insignificant CRP elevation normalized during the treatment.</p></span> <span id="abss0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="cesectitle0005">Conclusion</span><p id="spara005" class="elsevierStyleSimplePara elsevierViewall">GHDD should be considered in patients with clinical and radiographic evidence of diaphyseal dysplasia as well as hematological abnormalities. In addition, bone dysplasia should be investigated in treatment-resistant hematological pathologies of unknown origin. Although GHDD is rare, clinicians should be informed that it responds well to steroid therapy.</p></span>" "secciones" => array:5 [ 0 => array:2 [ "identificador" => "abss0001" "titulo" => "Objective" ] 1 => array:2 [ "identificador" => "abss0002" "titulo" => "Case report" ] 2 => array:2 [ "identificador" => "abss0003" "titulo" => "Methodology" ] 3 => array:2 [ "identificador" => "abss0004" "titulo" => "Results" ] 4 => array:2 [ "identificador" => "abss0005" "titulo" => "Conclusion" ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/25311379/00000044000000S1/v2_202210180659/S2531137922013505/v2_202210180659/en/main.assets" "Apartado" => array:4 [ "identificador" => "86810" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Oral Presentations" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/25311379/00000044000000S1/v2_202210180659/S2531137922013505/v2_202210180659/en/main.pdf?idApp=UINPBA00005G&text.app=http://www.htct.com.br/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2531137922013505?idApp=UINPBA00005G" ]
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