Por favor, use este identificador para citar o enlazar este ítem: https://observatorio.fm.usp.br/handle/OPI/34429
Título: Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study
Autor: OZAHATA, Mina CinthoPAGE, Grier P.GUO, YuelongFERREIRA, Joao EduardoDINARDO, Carla LuanaCARNEIRO-PROIETTI, Anna Barbara F.LOUREIRO, PaulaMOTA, Rosimere AfonsoRODRIGUES, Daniela O. W.BELISARIO, Andre RolimMAXIMO, ClaudiaFLOR-PARK, Miriam V.CUSTER, BrianKELLY, ShannonSABINO, Ester Cerdeira
Citación: JOURNAL OF SEXUAL MEDICINE, v.16, n.12, p.1988-1999, 2019
Resumen: Introduction: 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.
Aparece en las colecciones:

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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