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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorOZAHATA, Mina Cintho
dc.contributor.authorPAGE, Grier P.
dc.contributor.authorGUO, Yuelong
dc.contributor.authorFERREIRA, Joao Eduardo
dc.contributor.authorDINARDO, Carla Luana
dc.contributor.authorCARNEIRO-PROIETTI, Anna Barbara F.
dc.contributor.authorLOUREIRO, Paula
dc.contributor.authorMOTA, Rosimere Afonso
dc.contributor.authorRODRIGUES, Daniela O. W.
dc.contributor.authorBELISARIO, Andre Rolim
dc.contributor.authorMAXIMO, Claudia
dc.contributor.authorFLOR-PARK, Miriam V.
dc.contributor.authorCUSTER, Brian
dc.contributor.authorKELLY, Shannon
dc.contributor.authorSABINO, Ester Cerdeira
dc.identifier.citationJOURNAL OF SEXUAL MEDICINE, v.16, n.12, p.1988-1999, 2019
dc.description.abstractIntroduction: Priapism is the persistent and painful erection of the penis and is a common sickle cell disease (SCD) complication. Aim: The goal of this study was to characterize clinical and genetic factors associated with priapism within a large multi-center SCD cohort in Brazil. Methods: Cases with priapism were compared to SCD type-matched controls within defined age strata to identify clinical outcomes associated with priapism. Whole blood single nucleotide polymorphism genotyping was performed using a customized array, and a genome-wide association study (GWAS) was conducted to identify single nucleotide polymorphisms associated with priapism. Main Outcome Measure: Of the 1,314 male patients in the cohort, 188 experienced priapism (14.3%). Results: Priapism was more common among older patients (P=.006) and more severe SCD genotypes such as homozygous SS (P<.0001). In the genotype- and age-matched analyses, associations with priapism were found for pulmonary hypertension (P=.05) and avascular necrosis (P=.01). The GWAS suggested replication of a previously reported candidate gene association of priapism for the gene transforming growth factor beta receptor 3 (TGFBR3) (P = 2 x 10(-4)). Clinical Implications: Older patients with more severe genotypes are at higher risk of priapism, and there is a lack of consensus on standard treatment strategies for priapism in SCD. Strengths & Limitations: This study characterizes SCD patients with any history of priapism from a large multi-center cohort. Replication of the GWAS in an independent cohort is required to validate the results. Conclusion: These findings extend the understanding of risk factors associated with priapism in SCD and identify genetic markers to be investigated in future studies to further elucidate priapism pathophysiology.eng
dc.description.sponsorshipCapes Foundation within the Ministry of Education, BrazilCAPES
dc.description.sponsorship[NIH/NHLBI HHSN268201100007I]
dc.publisherELSEVIER SCI LTDeng
dc.relation.ispartofJournal of Sexual Medicine
dc.subjectSickle Cell Diseaseeng
dc.subjectGenome-Wide Association Studyeng
dc.subjectSingle Nucleotide Polymorphismeng
dc.subject.othernitric-oxide synthaseeng
dc.subject.otherendothelial growth-factoreng
dc.subject.otherexcess adenosineeng
dc.titleClinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Studyeng
dc.rights.holderCopyright ELSEVIER SCI LTDeng
dc.contributor.groupauthorNHLBI Recipient Epidemiology Donor
dc.subject.wosUrology & Nephrologyeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng, Mina Cintho:Univ Sao Paulo, Sao Paulo, Brazil, Grier P.:RTI Int, Res Triangle Pk, NC USA, Yuelong:RTI Int, Res Triangle Pk, NC USA, Joao Eduardo:Univ Sao Paulo, Sao Paulo, Brazil, Anna Barbara F.:Hemominas Fdn, Belo Horizonte, MG, Brazil, Paula:Hemope Fdn, Recife, PE, Brazil; Univ Pernambuco, Recife, PE, Brazil, Rosimere Afonso:Hemominas Fdn, Belo Horizonte, MG, Brazil, Daniela O. W.:Hemominas Fdn, Belo Horizonte, MG, Brazil, Andre Rolim:Hemominas Fdn, Belo Horizonte, MG, Brazil, Claudia:Hemorio Fdn, Rio De Janeiro, Brazil, Brian:Vitalant Res Inst, San Francisco, CA USA, Shannon:Vitalant Res Inst, San Francisco, CA USA; UCSF Benioff Childrens Hosp Oakland, Oakland, CA USA
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Appears in Collections:

Artigos e Materiais de Revistas Científicas - FM/MIP
Departamento de Moléstias Infecciosas e Parasitárias - FM/MIP

Artigos e Materiais de Revistas Científicas - HC/ICr
Instituto da Criança - HC/ICr

Artigos e Materiais de Revistas Científicas - LIM/13
LIM/13 - Laboratório de Genética e Cardiologia Molecular

Artigos e Materiais de Revistas Científicas - LIM/31
LIM/31 - Laboratório de Genética e Hematologia Molecular

Artigos e Materiais de Revistas Científicas - LIM/46
LIM/46 - Laboratório de Parasitologia Médica

Artigos e Materiais de Revistas Científicas - ODS/03
ODS/03 - Saúde e bem-estar

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