Six new cases confirm the clinical molecular profile of complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazil

In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17 alpha-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17 alpha-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium ( 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazilian patients. Arq Bras Endocrinol Metab. 2010;54(8):711-6548SI71171

Comparative Genomics ofAcinetobacter baumanniiClinical Strains From Brazil Reveals Polyclonal Dissemination and Selective Exchange of Mobile Genetic Elements Associated With Resistance Genes

Acinetobacter baumannii is an opportunistic bacterial pathogen infecting immunocompromised patients and has gained attention worldwide due to its increased antimicrobial resistance. Here, we report a comparative whole-genome sequencing and analysis coupled with an assessment of antibiotic resistance of 46 Acinetobacter strains (45 A. baumannii plus one Acinetobacter nosocomialis) originated from five hospitals from the city of Recife, Brazil, between 2010 and 2014. An average of 3,809 genes were identified per genome, although only 2,006 genes were single copy orthologs or core genes conserved across all sequenced strains, with an average of 42 new genes found per strain. We evaluated genetic distance through a phylogenetic analysis and MLST as well as the presence of antibiotic resistance genes, virulence markers and mobile genetic elements (MGE). The phylogenetic analysis recovered distinct monophyletic A. baumannii groups corresponding to five known (ST1, ST15, ST25, ST79, and ST113) and one novel ST (ST881, related to ST1). A large number of ST specific genes were found, with the ST79 strains having the largest number of genes in common that were missing from the other STs. Multiple genes associated with resistance to β-lactams, aminoglycosides and other antibiotics were found. Some of those were clearly mapped to defined MGEs and an analysis of those revealed known elements as well as a novel Tn7-Tn3 transposon with a clear ST specific distribution. An association of selected resistance/virulence markers with specific STs was indeed observed, as well as the recent spread of the OXA-253 carbapenemase encoding gene. Virulence genes associated with the synthesis of the capsular antigens were noticeably more variable in the ST113 and ST79 strains. Indeed, several resistance and virulence genes were common to the ST79 and ST113 strains only, despite a greater genetic distance between them, suggesting common means of genetic exchange. Our comparative analysis reveals the spread of multiple STs and the genomic plasticity of A. baumannii from different hospitals in a single metropolitan area. It also highlights differences in the spread of resistance markers and other MGEs between the investigated STs, impacting on the monitoring and treatment of Acinetobacter in the ongoing and future outbreaks

Fonoterapia vocal e fisioterapia respiratória com idosos saudáveis: revisão de literatura

RESUMO Este estudo tem como tema a fonoterapia vocal e a fisioterapia respiratória no idoso saudável. O objetivo do presente estudo foi revisar a literatura sobre fonoterapia vocal e sobre fisioterapia respiratória com idosos saudáveis. Foi realizado um levantamento bibliográfico de artigos publicados entre 2004 e 2014 nas bases de dados Lilacs, Bireme, MedLine, PubMed e Scielo. Descritores utilizados: physical therapy specialty; breathing; speech therapy; aged; therapeutics e voice. A literatura sobre fonoterapia vocal com idosos saudáveis mostrou que as intervenções têm sido feitas por meio de orientação vocal; terapia vocal tradicional para presbifonia, independente do tipo de intervenção; exercícios vocais específicos; e programas terapêuticos padronizados, havendo evidências de melhora de medidas vocais perceptivoauditivas, acústicas, de autoavaliação vocal e de imagem laríngea. Quanto à fisioterapia respiratória, a literatura evidenciou que as técnicas ou procedimentos utilizados com idosos saudáveis foram: uso do aparelho Threshold, técnicas de terapia manual, espirometria de incentivo, exercícios respiratórios associados ao movimento do tronco e membros inferiores e atividade física em geral, apresentando evidências de melhora na força muscular respiratória, função pulmonar e autonomia funcional dos idosos