GLUCOCORTICOID USE IN STEVENS-JOHNSON SYNDROME AND TOXIC EPIDERMAL NECROLYSIS CASES IN HOSPITAL NOSSA SENHORA DA CONCEIÇÃO - MARCH 2007 TO AUGUST 2014

Introdução: A síndrome de Stevens-Johnson e a necrólise epidérmica tóxica (NET) são reações cutâneas severas, associadas a lesões mucosas e comprometimento sistêmico. Os glicocorticoides foram empregues por muitos anos no tratamento da síndrome de Stevens-Johnson/necrólise epidérmica tóxica, mas não há evidências que sustentem esta conduta.Objetivo: Avaliação da mortalidade em casos de síndrome de Stevens-Johnson/necrólise epidérmica tóxica em um grupo de pacientes que fez uso de glicocorticoides sistêmico e em outro grupo não fez uso.Objetivo secundário: Descrição da população estudada; avaliação de infecção secundária e complicações extra-cutâneas nos dois grupos de pacientes.Material e Métodos: Coorte retrospectiva de pacientes avaliados por meio de consultorias solicitadas ao Serviço de Dermatologia do Hospital Nossa Senhora da Conceição, bem como pelo diagnóstico na internação ou óbito, durante o período de Março de 2007 a Agosto de 2014.Resultados: Mortalidade foi de 63.2% no grupo que usou corticoide e 9,1% no grupo que não usou corticoide, com p valor de 0,005 (IC 95% 1.79-163.8). Análise multivariada ajustada pelo SCORTEN demonstrou apenas uma tendência, com odds ratio para mortalidade no grupo de pacientes que usou glicocorticoides sendo de 7.38 (IC 95% 0.87-161.43) e p valor de 0.06.Conclusão: Este estudo sugere uma tendência de malefício relacionado ao uso de glicocorticoides para o tratamento dessas doenças, principalmente no que diz respeito à mortalidade.Introduction: Stevens-Johnson syndrome and toxic epidermal necrolysis are severe skin reactions associated with mucosal lesions and systemic involvement. Glucocorticoids were used for many years in the treatment of Stevens-Johnson syndrome / Toxic Epidermal Necrolysis, but there is no evidence to support this approach.Objective: Assessment of mortality in Stevens-Johnson syndrome/Toxic Epidermal Necrolysis cases in a group of patients that used systemic glucocorticoids and another group who did not.Secondary objective: Description of the study population; review of secondary infection and extra-cutaneous complications in both groups of patients.Material and Methods: Retrospective cohort of patients selected by consulting requested to the Dermatology Service of the Hospital Nossa Senhora da Conceição, as well as the diagnosis at admission or death, during the period March 2007 to August 2014.Results: Mortality rate was 63.2% in the group that used corticosteroids and 9.1% in the group that did not use steroids, with p value 0.005 (95% CI 1.79-163.8). Multivariate analysis adjusted for SCORTEN showed only a trend for harm, with an odds ratio for mortality in patients who used glucocorticoids being of 7:38 (95% CI 0.87-161.43) and p value 0.06.Conclusion: This study suggests a trend for harm associated with glucocorticoids use for treatment of these diseases, especially in regard to mortality

Genética da predisposição à nefropatia diabética em pacientes com diabetes melito tipo 2

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rs1888747 polymorphism in the FRMD3 gene, gene and protein expression : role in diabetic kidney disease

Background: We carried out a case–control study in patients with type 2 diabetes mellitus (T2DM) to evaluate the association between seven single nucleotide polymorphisms (SNPs) previously described to be linked to diabetic kidney disease (DKD) in type 1 diabetes mellitus (T1DM). Additionally, we evaluated gene and protein expression related to the polymorphism associated with DKD. Methods: The association study included 1098 T2DM patients (718 with DKD and 380 without DKD). Out of the 13 polymorphisms associated with DKD in a previous study with T1DM, seven were chosen for evaluation in this sample: rs1888747, rs9521445, rs39075, rs451041, rs1041466, rs1411766 and rs6492208. The expression study included 91 patients who underwent nephrectomy. Gene expression was assessed by RT-qPCR and protein expression in kidney samples was quantified by western blot and it localization by immunohistochemistry. Results: The C/C genotype of rs1888747 SNP was associated with protection for DKD (OR = 0.6, 95 % CI 0.3–0.9; P = 0.022). None of the other SNPs were associated with DKD. rs1888747 is located near FRMD3 gene. Therefore, FRMD3 gene and protein expression were evaluated in human kidney tissue according to rs1888747 genotypes. Gene and protein expression were similar in subjects homozygous for the C allele and in those carrying the G allele. Conclusions: Replication of the association between rs1888747 SNP and DKD in a different population suggests that this link is not the result of chance. rs1888747 SNP is located at the FRMD3 gene, which is expressed in human kidney. Therefore, this gene is a candidate gene for DKD. However, in this study, no rs1888747 genotype or specific allele effect on gene and/or protein expression of the FRMD3 gene was demonstrated