Prognostic factors and historical trends in the epidemiology of candidemia in critically ill patients: an analysis of five multicenter studies sequentially conducted over a 9-year period

To describe temporal trends in the epidemiology, clinical management and outcome of candidemia in intensive care unit (ICU) patients.This study was a retrospective analysis of 1,392 episodes of candidemia in 647 adult ICU patients from 22 Brazilian hospitals. the characteristics of candidemia in these ICU patients were compared in two periods (2003-2007, period 1; 2008-2012, period 2), and the predictors of 30-day mortality were assessed.The proportion of patients who developed candidemia while in the ICU increased from 44 % in period 1 to 50.9 % in period 2 (p = 0.01). Prior exposure to fluconazole before candidemia (22.3 vs. 11.6 %, p < 0.001) and fungemia due to Candida glabrata (13.1 vs. 7.8 %, p = 0.03) were more frequent in period 2, as was the proportion of patients receiving an echinocandin as primary therapy (18.0 vs. 5.9 %, p < 0.001). the 30-day mortality rate decreased from 76.4 % in period 1 to 60.8 % in period 2 (p < 0.001). Predictors of 30-day mortality by multivariate analysis were older age, period 1, treatment with corticosteroids and higher APACHE II score, while treatment with an echinocandin were associated with a higher probability of survival.We found a clear change in the epidemiology and clinical management of candidemia in ICU patients over the 9-year period of the study. the use of echinocandins as primary therapy for candidemia appears to be associated with better outcomes.MSDPfizerUnited MedicalUniversidade Federal de São Paulo, Escola Paulista Med, São Paulo, BrazilHosp Serv Publ Estadual São Paulo, São Paulo, BrazilIrmandade Santa Casa de Misericordia Porto Alegre, Porto Alegre, RS, BrazilUniv Fed Ciencias Sau Porto Alegre, Porto Alegre, RS, BrazilUniv Fed Parana, BR-80060000 Curitiba, Parana, BrazilUniv Fed Rio de Janeiro, Rio de Janeiro, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, São Paulo, BrazilWeb of Scienc

Prognostic factors and historical trends in the epidemiology of candidemia in critically ill patients: an analysis of five multicenter studies sequentially conducted over a 9-year period (vol 40, pg 1489, 2014)

Universidade Federal de São Paulo, Escola Paulista Med, São Paulo, BrazilHosp Serv Publ Estadual São Paulo, São Paulo, BrazilIrmandade Santa Casa de Misericordia Porto Alegre, Porto Alegre, RS, BrazilUniv Fed Ciencias Saude Porto Alegre, Porto Alegre, RS, BrazilUniv Fed Parana, BR-80060000 Curitiba, Parana, BrazilUniv Fed Rio de Janeiro, Rio de Janeiro, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, São Paulo, BrazilWeb of Scienc

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

Abstract Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology of the inner ear. In this research we wanted to investigate the prevalence of mutations in SLC26A4 in Brazilian patients with nonsyndromic prelingual sensorineural HL. We applied the high-resolution melting technique to screen 88 DNA samples from unrelated deaf individuals that were previously screened for GJB2, GJB6 and MT-RNR1 mutations. Results The frequency of mutations in the SLC26A4 gene was 28.4%. Two novel mutations were found: p.Ile254Val and p.Asn382Lys. The mutation c.-66C>G (rs17154282) in the promoter region of SLC26A4, was the most frequent mutation found and was significantly associated with nonsyndromic prelingual sensorineural HL. After mutations in the GJB2, GJB6 and mitochondrial genes, SLC26A4 mutations are considered the next most common cause of hereditary HL in Brazilian as well as in other populations, which corroborates with our data. Furthermore, we suggest the inclusion of the SCL26A4 gene in the investigation of hereditary HL since there was an increase in the frequency of the mutations found, up to 22.7%