Genetic characterisation of Langerin gene in human immunodeficiency virus-1-infected women from Bahia, Brazil

Studies on human genetic variations are a useful source of knowledge about human immunodeficiency virus (HIV)-1 infection. The Langerin protein, found at the surface of Langerhans cells, has an important protective role in HIV-1 infection. Differences in Langerin function due to host genetic factors could influence susceptibility to HIV-1 infection. To verify the frequency of mutations in the Langerin gene, 118 samples from HIV-1-infected women and 99 samples from HIV-1-uninfected individuals were selected for sequencing of the promoter and carbohydrate recognition domain (CRD)-encoding regions of the Langerin gene. Langerin promoter analysis revealed two single nucleotide polymorphisms (SNPs) and one mutation in both studied groups, which created new binding sites for certain transcription factors, such as NFAT5, HOXB9.01 and STAT6.01, according to MatInspector software analysis. Three SNPs were observed in the CRD-encoding region in HIV-1-infected and uninfected individuals: p.K313I, c.941C>T and c.983C>T. This study shows that mutations in the Langerin gene are present in the analysed populations at different genotypic and allelic frequencies. Further studies should be conducted to verify the role of these mutations in HIV-1 susceptibility.

Host genetic factors in American cutaneous leishmaniasis: a critical appraisal of studies conducted in an endemic area of Brazil

American cutaneous leishmaniasis (ACL) is a vector-transmitted infectious disease with an estimated 1.5 million new cases per year. In Brazil, ACL represents a significant public health problem, with approximately 30,000 new reported cases annually, representing an incidence of 18.5 cases per 100,000 inhabitants. Corte de Pedra is in a region endemic for ACL in the state of Bahia (BA), northeastern Brazil, with 500-1,300 patients treated annually. Over the last decade, population and family-based candidate gene studies were conducted in Corte de Pedra, founded on previous knowledge from studies on mice and humans. Notwithstanding limitations related to sample size and power, these studies contribute important genetic biomarkers that identify novel pathways of disease pathogenesis and possible new therapeutic targets. The present paper is a narrative review about ACL immunogenetics in BA, highlighting in particular the interacting roles of the wound healing gene FLI1 with interleukin-6 and genes SMAD2 and SMAD3 of the transforming growth factor beta signalling pathway. This research highlights the need for well-powered genetic and functional studies on Leishmania braziliensis infection as essential to define and validate the role of host genes in determining resistance/susceptibility regarding this disease.

Antimicrobial susceptibility patterns, emm type distribution and genetic diversity of Streptococcus pyogenes recovered in Brazil

Streptococcus pyogenes is responsible for a variety of infectious diseases and immunological complications. In this study, 91 isolates of S. pyogenes recovered from oropharynx secretions were submitted to antimicrobial susceptibility testing, emm typing and pulsed-field gel electrophoresis (PFGE) analysis. All isolates were susceptible to ceftriaxone, levofloxacin, penicillin G and vancomycin. Resistance to erythromycin and clindamycin was 15.4%, which is higher than previous reports from this area, while 20.9% of the isolates were not susceptible to tetracycline. The macrolide resistance phenotypes were cMLSB (10) and iMLSB (4). The ermB gene was predominant, followed by the ermA gene. Thirty-two emm types and subtypes were found, but five (emm1, emm4, emm12, emm22, emm81) were detected in 48% of the isolates. Three new emm subtypes were identified (emm1.74, emm58.14, emm76.7). There was a strong association between emm type and PFGE clustering. A variety of PFGE profiles as well as emm types were found among tetracycline and erythromycin-resistant isolates, demonstrating that antimicrobial resistant strains do not result from the expansion of one or a few clones. This study provides epidemiological data that contribute to the development of suitable strategies for the prevention and treatment of such infections in a poorly studied area.

Genetic diversity of chloroquine-resistant Plasmodium vivax parasites from the western Brazilian Amazon

The molecular basis of Plasmodium vivax chloroquine (CQ) resistance is still unknown. Elucidating the molecular background of parasites that are sensitive or resistant to CQ will help to identify and monitor the spread of resistance. By genotyping a panel of molecular markers, we demonstrate a similar genetic variability between in vitro CQ-resistant and sensitive phenotypes of P. vivax parasites. However, our studies identified two loci (MS8 and MSP1-B10) that could be used to discriminate between both CQ-susceptible phenotypes among P. vivax isolates in vitro. These preliminary data suggest that microsatellites may be used to identify and to monitor the spread of P. vivax-resistance around the world.

Genetic variability in G2 and F2 region between biological clones of human respiratory syncytial virus with or without host immune selection pressure

Human respiratory syncytial virus (HRSV) is an important respiratory pathogens among children between zero-five years old. Host immunity and viral genetic variability are important factors that can make vaccine production difficult. In this work, differences between biological clones of HRSV were detected in clinical samples in the absence and presence of serum collected from children in the convalescent phase of the illness and from their biological mothers. Viral clones were selected by plaque assay in the absence and presence of serum and nucleotide sequences of the G2 and F2 genes of HRSV biological clones were compared. One non-synonymous mutation was found in the F gene (Ile5Asn) in one clone of an HRSV-B sample and one non-synonymous mutation was found in the G gene (Ser291Pro) in four clones of the same HRSV-B sample. Only one of these clones was obtained after treatment with the child's serum. In addition, some synonymous mutations were determined in two clones of the HRSV-A samples. In conclusion, it is possible that minor sequences could be selected by host antibodies contributing to the HRSV evolutionary process, hampering the development of an effective vaccine, since we verify the same codon alteration in absence and presence of human sera in individual clones of BR-85 sample.

Genetic diversity of Cryptosporidium identified in clinical samples from cities in Brazil and Argentina

The identification and characterisation of Cryptosporidiumgenotypes and subtypes are fundamental to the study of cryptosporidiosis epidemiology, aiding in prevention and control strategies. The objective was to determine the genetic diversity ofCryptosporidium in samples obtained from hospitals of Rio de Janeiro, Brazil, and Buenos Aires, Argentina. Samples were analysed by microscopy and TaqMan polymerase chain reaction (PCR) assays forCryptosporidium detection, genotyped by nested-PCR-restriction fragment length polymorphism (RFLP) analysis of the 18S rRNA gene and subtyped by DNA sequencing of the gp60 gene. Among the 89 samples from Rio de Janeiro, Cryptosporidium spp were detected in 26 by microscopy/TaqMan PCR. In samples from Buenos Aires,Cryptosporidium was diagnosed in 15 patients of the 132 studied. The TaqMan PCR and the nested-PCR-RFLP detected Cryptosporidium parvum, Cryptosporidium hominis, and co-infections of both species. In Brazilian samples, the subtypes IbA10G2 and IIcA5G3 were observed. The subtypes found in Argentinean samples were IbA10G2, IaA10G1R4, IaA11G1R4, and IeA11G3T3, and mixed subtypes of Ia and IIa families were detected in the co-infections. C. hominis was the species more frequently detected, and subtype family Ib was reported in both countries. Subtype diversity was higher in Buenos Aires than in Rio de Janeiro and two new subtypes were described for the first time.

Acidentes de trânsito: caracterização das vitimas segundo o "Revised Trauma Score" medido no período pré-hospitalar

O estudo descreve idade, sexo, aspectos do mecanismo e procedimentos realizados em. 643 acidentados de trânsito atendidos nas Marginais Tietê e Pinheiros, considerando os valores do Revised Trauma Score (RTS) do período pré-hospitalar. As vítimas com RTS=12 somaram 90,8%, com RTS=11, 4,0% e RTS<10, 5,2%. No grupo de RTS<10, destacam-se os atropelamentos (36,4%), os impactos frontais (24,2%), as vítimas projetadas (36,4%) ou presas às ferragens (15,1%), e que receberam o maior percentual de procedimentos de suporte avançado. Os motociclistas e as vítimas do gênero masculino e de idade entre 21 e 30 anos predominaram. Espera-se com este estudo, fornecer subsídios para a melhora da assistência às vítimas de acidente de trânsito.

Nursing Activities Score (NAS) como instrumento para medir carga de trabalho de enfermagem em UTI adulto

Pesquisa de campo, prospectiva, quantitativa, descritiva-exploratória, realizada na UTI geral/adulto de um hospital privado do município de São Paulo. Objetivos: avaliar o NAS - Nursing Activities Score - como medida de carga de trabalho de enfermagem; sua aplicabilidade por turnos e sua correspondência com o quantitativo de enfermagem efetivo. Classificados 33 pacientes: idade média: 70,4 anos (+/-16,5), 66,7% do sexo masculino; permanência média na UTI: 17 dias (+/- 20,4); SAPSII: 41,7 (+/-17,9); risco de morte: (RM) 33,5% (+/- 26,8); 63,6% transferidos para Unidades de Cuidados Semi-Intensivos, 18,2% evoluíram a óbito. Obtiveram-se 396 medidas por turnos (134-manhã; 132-tarde; 130-noturno), média de 55,4 (+/-12,3) e 147 medidas de NAS de 24h, média de 69,6 (+/-18,2). O instrumento mostrou-se mais adequado à aplicação em 24 horas que por turnos, tendendo a refletir o número de profissionais efetivo, revelando-se interessante instrumento de classificação de pacientes e carga de trabalho de enfermagem em terapia intensiva.

Nursing Activities Score (NAS): adaptação transcultural e validação para a língua portuguesa

O estudo teve como objetivos adaptar para o português e avaliar as propriedades psicométricas do Nursing Activities Score (NAS), instrumento de medida de carga de trabalho de enfermagem em UTI. Após o processo de adaptação cultural, o NAS foi aplicado em uma amostra de 200 pacientes adultos internados em UTIs. A análise da consistência interna pelo coeficiente Alfa de Cronbach revelou que o NAS possui 23 medidas independentes que não comportam consolidação ou redução. A avaliação da confiabilidade interobservadores demonstrou alta concordância (99,8%) e índice Kappa médio de 0,99. A validade concorrente foi demonstrada pela correlação estatisticamente significativa entre o TISS-28 e o NAS (r=0,67; p<0,0001), assim como pela análise de regressão multivariada (R²=94,4%; p<0,0001). Na avaliação da validade convergente, a regressão multivariada mostrou associação estatisticamente significativa entre o NAS e o SAPS II, quando ajustada pela idade (R²=99,8%; p<0,0001). Pelos resultados obtidos, o NAS mostrou-se um instrumento confiável e válido para mensurar carga de trabalho de enfermagem em UTIs brasileiras.

The role of the New Trauma and Injury Severity Score (NTRISS) for survival prediction

The objective of this study was to verify if replacing the Injury Severity Score (ISS) by the New Injury Severity Score (NISS) in the original Trauma and Injury Severity Score (TRISS) form would improve the survival rate estimation. This retrospective study was performed in a level I trauma center during one year. ROC curve was used to identify the best indicator (TRISS or NTRISS) for survival probability prediction. Participants were 533 victims, with a mean age of 38±16 years. There was predominance of motor vehicle accidents (61.9%). External injuries were more frequent (63.0%), followed by head/neck injuries (55.5%). Survival rate was 76.9%. There is predominance of ISS scores ranging from 9-15 (40.0%), and NISS scores ranging from 16-24 (25.5%). Survival probability equal to or greater than 75.0% was obtained for 83.4% of the victims according to TRISS, and for 78.4% according to NTRISS. The new version (NTRISS) is better than TRISS for survival prediction in trauma patients.

Sistema NAS: Nursing Activities Score em tecnologia móvel

Este estudo objetivou apresentar a estrutura informatizada que viabiliza a utilização do Nursing Activities Score (NAS) em tecnologia móvel. Trata-se de um projeto de desenvolvimento de produção tecnológica baseado na engenharia de software, fundamentada na teoria do ciclo de vida de desenvolvimento de sistema. O Sistema NAS foi construído em dois módulos: módulo de pesquisa, cujo acesso é realizado através de computador pessoal (PC) e módulo de coleta de dados, acessado por meio de dispositivo móvel (smartphone). O Sistema NAS foi construído de modo a permitir que outros formulários, além do instrumento NAS, sejam incluídos futuramente. Assim, entende-se que o desenvolvimento do Sistema NAS permitirá a aproximação entre os enfermeiros e a tecnologia móvel facilitando o acesso imediato aos dados do instrumento referentes aos pacientes, auxiliando na tomada de decisão e na adequação do quantitativo de pessoal de enfermagem para prestação da assistência.

Carga de trabajo en tres grupos de pacientes de UCI Española según el Nursing Activities Score

Se objetivó valorizar la carga de trabajo al ingreso y al alta en tres grupos de pacientes (síndrome coronario agudo, insuficiencia respiratoria aguda y sepsis) en terapia intensiva. Estudio descriptivo, prospectivo, de 27 meses, incluyéndose 563 pacientes, valorando carga de trabajo según Nursing Activities Score. Existieron diferencias significativas en la carga de trabajo al ingreso y en el alta entre los grupos de pacientes, siendo superior en ambos momentos la de pacientes con insuficiencia respiratoria aguda y sepsis frente a pacientes coronarios. Durante los siete primeros días de estancia se mantuvo esta diferencia, desapareciendo a partir del octavo día, equilibrándose la carga de trabajo para los tres grupos. Para conseguir una adecuada dotación de personal es fundamental contar con instrumentos para medir las necesidades de cuidados y conocer la carga de trabajo de los distintos grupos de enfermos que ingresan con mayor frecuencia en las unidades de terapia intensiva.

Usage analysis of the Nursing Activities Score in two Spanish ICUS

The aim of this study was to analyze the discourse of health managers on aspects related to delay in tuberculosis diagnosis. This was a qualitative research study, conducted with 16 Family Health Unit managers. The empirical data were obtained through semi-structured interviews. The analysis was based on the theoretical framework of the French school of discourse analysis. According to the managers’ statements, the delay in tuberculosis diagnosis is related to patient and health service aspects. As for patient aspects, managers report fear, prejudice and lack of information as factors that may promote a delayed diagnosis. Regarding health service aspects, structural problems and lack of professional skills were reported. The discourse of managers should be considered to qualify tuberculosis control actions and to prevent delays in diagnosis.

Genetic counseling for individuals with hemoglobin disorders and for their relatives: a systematic literature review

Objective: To identify genetic counseling programs that do not encourage therapeutic abortion for individuals with hemoglobin disorders and/or for their relatives. Method: Systematic literature review of articles published from 2001 to 2012 that are located in the PubMed, LILACS, SciELO and SCOPUS databases using keywords in Portuguese, English and Spanish and that met the inclusion and exclusion criteria described on a standardized form. Results: A total of 409 articles were located, but only eight (1.9%) were selected for analysis. Conclusion: Although seldom mentioned in the literature, educational/preventive programs targeting hemoglobinopathies are feasible and allow the affected individuals to acquire knowledge on the consequences of this condition and their odds of transmitting it.