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dc.contributor.authorCarmo, Julia Cavalcante do-
dc.date.available2020-03-20-
dc.date.available2020-03-19T01:18:30Z-
dc.date.issued2015-03-12-
dc.identifier.urihttp://repositorioinstitucional.uea.edu.br//handle/riuea/2394-
dc.description.abstractThe thrombocytopenia arise in peripheral blood when the destruction, utilization or sequestration of platelets exceeds the spinal cord ability to produce them. Among the causes of thrombocytopenia there is the immune thrombocytopenic purpura (ITP), a condition characterized by the formation of autoantibodies against human platelet antigen system. PTI is considered one of the findings described in the broad clinical spectrum of the 22q11.2 deletion syndrome (22q11.2DS), Also known as DiGeorge syndrome or velocardiofacial, the 22q11.2DS is an autosomal dominant condition with variable expressivity, caused by a deletion involving the region 11.2 of the long arm (q) of chromosome 22. It has an estimated prevalence of 1 per 2000-4000 live births, making it one of the most common genetic diseases in humans. The diagnosis has some limitations, high-resolution karyotype, for instance, has limitations because it is able to identify less than 15% of affected patients (most patients have a very small deletion - A microdeletion - that escapes detection by this test). Therefore, the test considered most suitable for the diagnosis is the fluorescence in situ hybridization (FISH), a molecular cytogenetic technique which uses DNA probes marked with fluorescent material. FISH is capable of detecting more than 90% of cases. Knowing that Foundation of Hematology and Hemotherapy of the State of Amazonas (HEMOAM) is a referral center in the state in the evaluation and treatment of patients with ITP, the aim of this study was to evaluate the frequency and clinical characteristics of individuals with 22q11.2DS among patients diagnosed with ITP in this institution. Keywords: Hematological alterations, Thrombocytopenia, immune thrombocytopenic purpura, deletion syndrome 22q11.2, velocardiofacial syndrome, DiGeorge syndrome, Fluorescence in situ hybridizationpt_BR
dc.languageporpt_BR
dc.publisherUniversidade do Estado do Amazonaspt_BR
dc.rightsAcesso Abertopt_BR
dc.rightsAtribuição-NãoComercial-SemDerivados 3.0 Brasil*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/br/*
dc.subjectAlterações hematológicaspt_BR
dc.subjectPlaquetopeniapt_BR
dc.subjectTrombocitopeniapt_BR
dc.subjectSíndrome de deleção 22q11.2pt_BR
dc.subjectSíndrome velocardiofacialpt_BR
dc.subjectSíndrome de DiGeorgept_BR
dc.subjectHibridização in situ fluorescentept_BR
dc.titleFrequência e caracterização clínica de indivíduos com púrpura trombocitopênica imunológica da Fundação de Hematologia e Hemoterapia do Estado do Amazonas testados citogeneticamente para a Síndrome de Deleção do 22q11.2.pt_BR
dc.typeDissertaçãopt_BR
dc.date.accessioned2020-03-19T01:18:30Z-
dc.contributor.advisor-co1Rosa, Rafael Fabiano Machado-
dc.contributor.advisor-co1Latteshttp://lattes.cnpq.br/7255679916272398pt_BR
dc.contributor.advisor1Rezende , Cleiton Fantin-
dc.contributor.advisor1Latteshttp://lattes.cnpq.br/3982396993273580pt_BR
dc.contributor.referee1Rezende , Cleiton Fantin-
dc.contributor.referee1Latteshttp://lattes.cnpq.br/3982396993273580pt_BR
dc.contributor.referee2Rafael, Mirian Silvia-
dc.contributor.referee3Weber, Simone Schneider-
dc.contributor.referee3Latteshttp://lattes.cnpq.br/1052122095067260pt_BR
dc.creator.Latteshttp://lattes.cnpq.br/7672880402641281pt_BR
dc.description.resumoAs trombocitopenias surgem no sangue periférico quando a destruição, utilização ou sequestro das plaquetas excede a capacidade medular de produzir as mesmas. Dentre as causas de trombocitopenia está a púrpura trombocitopenica imunológica (PTI), uma condição caracterizada pela formação de autoanticorpos contra o sistema de antígenos plaquetários humanos. A PTI é considerada um dos achados descritos dentro do amplo espectro clínico da síndrome da deleção 22q11.2 (SD22q11.2). Conhecida também como síndrome velocardiofacial ou DiGeorge, a SD22q11.2 é uma condição autossômica dominante com expressividade variável, causada por uma deleção envolvendo a região 11.2 do braço longo (q) do cromossomo 22. Ela possui uma prevalência estimada de 1 para cada 2000 a 4000 nascidos vivos, o que faz dela uma das doenças genéticas mais frequentes em humanos. Quanto ao seu diagnóstico, o cariótipo de alta resolução possui limitações, pois é capaz de identificar menos de 15% dos pacientes afetados (a maior parte dos pacientes apresenta uma deleção muito pequena – uma microdeleção – que escapa à detecção através deste exame). Por isso, o teste considerado mais adequado para o diagnóstico em até 90% dos casos é a hibridização in situ fluorescente (FISH), uma técnica de citogenética molecular que se utiliza de sondas de DNA marcadas com corante fluorescente. A Fundação de Hematologia e Hemoterapia do Estado do Amazonas (HEMOAM) é um centro de referência no Estado na avaliação e tratamento de pacientes com PTI, nosso objetivo foi avaliar a frequência e as características clínicas de indivíduos com a SD22q11.2 entre pacientes diagnosticados com PTI nesta instituição. Palavras-chave: Alterações hematológicas, Plaquetopenia, Trombocitopenia, Síndrome de deleção 22q11.2, Síndrome velocardiofacial, Síndrome de DiGeorge, Hibridização in situ fluorescente.pt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.programPrograma de Pós-Graduação em Biotecnologia e Recursos Naturais da Amazôniapt_BR
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A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major defects in the population. Pediatrics 112:101–107, 2003. BOLTON-MAGGS, PHB. Idiopathic thrombocytopenic purpura. Archives of Disease in Childhood; 83:220–222, 2000 BUDARF, ML. KONKLE, B. MICHAUD, D. LUDLOW, LB. MICHAUD, D. MENGRONG, L. YAMASHIRO, DJ. MCDONALD-MCGINN, D. ZACKAI, E. DRISCOLL, D. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromossome region in 22q11. Human Molecular Genetics 4:763-766, 1995 DePIERO, AD, LOURIE, EM. BERMAN, BW. ROBIN, NH. ZINN, AB. HOSTOFFER, RW. Recurrent imune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. Journal of pediatrics; 131: 484-6, 1997. ELMALLAH, MK. KHAN, Y. HOCHHAUS, G. SHUSTER, JJ. HENDELES, L. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. Journal of Allergy and Clinical Immunology; 128:5, 2011 FREDERIKSEN, H. SCHMIDT, K. The incidence of idiopathic trombocytopenia purpura in adults increases with age. Blood; 94: 909-13, 1999. 48 GEET CV, DEVRIENDT K, EYSKENS B, VERMYLEN J, HOYLAERTS MF. Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatric Research; 44(4):607-11, 1998. GEORGE, JN. EL HARAKE, MA. ASTER, RH. Trombocytopenia due to enhanced platelet destruction by immunologic mechanisms. In: Beuter, E. Lichtman, MA. Coller, BA. Kipps, TJ. Eds. Willians hematology. 5th ed. New York: Mc Graw-Hill, 1315 – 55, 1995. JONES, KL.Smith’s recognizable patterns of human malformation. 7ª Edição – Philadelphia. Elsevier Saunders, 2013. KATO, T. KOSAKA, K. KIMURA, M. IMAMURA, S. YAMADA, O. IWAI, K. ANDO, M. JOH-O, K. KUROE, K. OHTAKE, A. TAKAO, A. MOMMA,K. MATSUOKA, R. Trombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. Genetics in Medicine; 5(2): 113-9, 2003. KRATZ, CP. NIEHUES, T. LYDING, S. HEUSCH, A.JANSSEN, G. GÖBEL, U. Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report. Pediatric Hematology and Oncology; 20(02):167-72, 2003. LATGER-CANNARD, V. BENSOUSSAN, D. GREGORIE, M-J. MARCON, F. CLOEZ, J-L. LEHEUP, B. JONVEAUX, TL. BORDIGONI, P. Frequency of thrombocytopenia and large platelets correletes neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome. European Journal of Pediatrics; 163: 327-328, 2004. LAWRENCE, S. McDONALD-MCGINN, DM. ZACKAI, E. SULLIVAN, KE. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. Journal of Pediatrics. 143(2):277-8,2003. LÉVY, A. MICHEL, G. LEMERRER, M. PHILIP, N. Idiopathic Thrombocytopenic Purpura in two mothers of children with DiGeorge Sequence: A new componente manifestation of deletion 22q11? American Journal of Medical Genetics; 69:356-359, 1997. LIANG HP, MOREL-KOPP MC, CURTIN J, WILSON M, HEWSON J, CHEN W, WARD, CM. Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably 49 affects platelet function in velocardiofacial syndrome (VCFS) patients. Thrombosis Haemostasis; 98(6):1298-308, 2007. MERKS, JHM. VAN KARNEBEEK, CDM. CARON, HN. HENNEKAM, RC. Phenotypic abnormalities: terminology and classification. American Journal of Medical Genetics. 123(3):211-230, 2003 OSKARSDOTTIR S, VUJIC M, FASTH A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Archives Disease Child; 89:148-51, 2004 OSKARSDOTTIR, S. PERSSON, C. ERIKSSON, BO. FASTH, A. Presenting phenotype in 100 children with 22q11 deletion syndrome. Europe Journal pediatric; 164:146-53, 2005. SAITO, M. ISHIKAWA, T. YOSHINORI, I. SHIMIZU, H. Hematological abnormalities in a patient with a 22q11.2 deletion. Brain & Development; 26: 342- 344, 2004. SHPRINTZEN, RJ. Velo-cardio-facial syndrome: 30 years of study. Developmental disabilities research reviews; 14:3-10, 2008 SULLIVAN, KE. Immunologic issues in VCFS / chromosome 22q11.2 deletion syndrome. Progress in Pediatric Cardiology: 15: 103-108, 2002pt_BR
dc.subject.cnpqBiotecnologiapt_BR
dc.publisher.initialsUEApt_BR
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