ABSTRACT
La meningitis es una patología prevalente en pediatría, tiene múltiples causales y alta morbimortalidad. Ante la sospecha se debe iniciar tratamiento empírico de amplio espectro, una rápida identificación del patógeno mejora el pronóstico y disminuye complicaciones. Esta revisión pretende evaluar la utilidad del FilmArray en el diagnóstico de meningitis en pediatría. Se realizó búsquedas en base de todos en Pubmed y Lilacs se encontraron 381, luego de excluir repetidos, por título y resumen; 8 artículos cumplieron los criterios de inclusión y exclusión. Con la estrategia PICO (P: niños entre 2 y 12 años, I: Método del FilmArray ME, C: Métodos cultivo, Gram y PCR específica, D: identificar el impacto sobre un uso racional de antibióticos, disminución del tiempo de hospitalización y otras comorbilidades asociadas). Evidenciando que el FilmArray ME es un examen con igual rendimiento diagnóstico que los métodos convencionales para el diagnóstico de meningitis en población infantil. No se logra evidenciar que mejore tiempo de hospitalización, uso de antibióticos o secuelas; hasta el momento ha igualado y en algunos casos superado el rendimiento del diagnóstico etiológico en la meningitis, aunque faltan estudios para ayudar a dilucidar su real valor en reducción de días de hospitalización y uso de antibióticos
Meningitis is a prevalent pathology in pediatrics, it has multiple causes and high morbidity and mortality. When suspected, empirical broad-spectrum treatment should be started, rapid identification of the pathogen improves the prognosis and reduces complications. This review aims to evaluate the usefulness of the FilmArray in the diagnosis of meningitis in pediatrics. Searches were carried out on the basis of all in Pubmed and Lilacs, 381 were found, after excluding repetitions, by title and abstract; 8 articles met the inclusion and exclusion criteria. With the PICO strategy (P: children between 2 and 12 years old, I: FilmArray ME method, C: Culture, Gram and specific PCR methods, D: identify the impact on a rational use of antibiotics, decrease in hospitalization time and other associated comorbidities). Evidence that the FilmArray ME is an exam with the same diagnostic performance as conventional methods for the diagnosis of meningitis in children. It is not possible to show that it improves hospitalization time, use of antibiotics or sequelae; Up to now, it has equaled and, in some cases, exceeded the performance of etiological diagnosis in meningitis, although studies are lacking to help elucidate its real value in reducing days of hospitalization and use of antibiotics
ABSTRACT
BACKGROUND AND OBJECTIVE: We describe a novel delta-thalassemia mutation causing decreased hemoglobin (Hb) A2 levels associated with Hb Watts, variant Hb resulting from a trinucleotide deletion in Spain. PATIENTS AND METHOD: Hb variant analysis was performed by cation-exchange high performance liquid chromatography (HPLC) and capillary zone electrophoresis. Polymerase chain reaction and DNA sequence analyses were used to identify mutations in the δ- and α-globin genes. RESULTS: Abnormal Hb was observed on capillary zone electrophoresis in Z6 and by cation-exchange HPLC a slower peak than HbA was observed at an retention time of 4.19min. This variant Hb is called Hb Watts [α2 74(EF3)Asp->0 or α2 75(EF4)Asp->0; HBA2:c.226_228delGAC]. The decreased HbA2 percentage owes to an insertion of 27nt between nt 83 and 84 of IVS-I of the δ-globin gene. CONCLUSIONS: When analyzing a chromatogram, the possibility of the existence of delta-thalassemia or an HbA2 variant should be considered, apart from alfa-, beta-thalassemia and structural haemoglobinopathies. To this end, each of the peaks and their percentages should be considered to allow for correct interpretation and to avoid misdiagnosis as much as possible.
Subject(s)
Hemoglobin A2/metabolism , Hemoglobins, Abnormal/metabolism , Mutagenesis, Insertional , delta-Globins/genetics , delta-Thalassemia/genetics , Base Sequence , Biomarkers/blood , Female , Hemoglobin A2/genetics , Hemoglobins, Abnormal/genetics , Humans , Middle Aged , Sequence Deletion , Spain , alpha-Globins/genetics , delta-Thalassemia/blood , delta-Thalassemia/diagnosisABSTRACT
O objetivo principal deste estudo foi avaliar a frequência de cepas do HBV com mutações de resistência aos análogos nucleos(t)ídeos (AN) utilizados no tratamento da hepatite B entre indivíduos cronicamente infectados, não submetidos a tratamento, procedentes de diferentes regiões do Brasil. Além disso, foram avaliadas a presença de mutações que alteram a antigenicidade do HBsAg promovendo escape dos anticorpos anti-HBs; mutações nos genes pré-core/core e a associação dos diferentes subgenótipos com as mutações encontradas e características demográficas e laboratoriais dos pacientes. Foram incluídas 779 amostras de soro de pacientes com infecção crônica pelo HBV e virgens de tratamento com AN ou interferon, as quais foram coletadas no período de 2006 a 2011. Os pacientes eram procedentes dos seguintes estados brasileiros: Pará, Maranhão, Bahia, Minas Gerais, São Paulo, Paraná e Rio Grande do Sul. O DNA do HBV foi extraído das amostras de soro utilizando o Kit QIAamp DNA Blood Mini Kit (Qiagen) e posteriormente foi realizada a amplificação das regiões S/polimerase (S/P) e pré-core/core (PCC) do genoma viral por nested PCR. O fragmento amplificado foi submetido a sequenciamento direto em sequenciador automático de DNA (ABI 3500) e as sequências obtidas foram analisadas para identificação dos genótipos e subgenótipos do HBV, pesquisa de mutações na polimerase, no HBsAg e nos genes pré-core/core. A região S/Pol foi amplificada e sequenciada com sucesso em 702 amostras, as quais foram incluídas para atender aos objetivos deste estudo. Entre as 702 amostras analisadas sete genótipos e 12 subgenótipos do HBV foram identificados. O subgenótipo A1 foi o mais frequente (63,7%, 447/702), seguido pelo HBV/D3 (14,5%, 102/702). Os demais genótipos e subgenótipos encontrados e suas frequências foram as seguintes: A2 (3,3%, 23/702), A3 (0,1%, 1/702), B1 (0,1%, 1/702), B2 (0,1%, 1/702), C2 (0,9%, 6/702), D1 (0,9%, 6/702), D2 (4,6%, 32/702), D4 (5,1%, 36/702), D com...
The main aim of this study was to evaluate the frequency of HBV strains harboring mutations that confer resistance to nucleos(t)ide analogues (NA) used to hepatitis B treatment among treatment-naïve patients with chronic hepatitis B from different Brazilian region. Furthermore, we evaluated the presence of mutations that alter the antigenicity of HBsAg causing anti-HBs escape; mutations in genes pre-core/core and the association of different subgenotypes with the mutations detected and demographic and laboratory characteristics of the patients. Serum samples from 779 treatment-naïve patients with chronic HBV infection were included in this study. The samples were collected between 2006 to 2011 and the patients were from the following states: Pará, Maranhão, Bahia, Minas Gerais, São Paulo, Paraná and Rio Grande do Sul. HBV DNA was extracted from serum samples using the QIAamp DNA Blood Mini Kit (Qiagen) and amplification of S/polymerase (S/Pol) and pre-core/core (PCC) regions were performed by nested PCR. The amplified PCR products were submitted to sequencing in an automatic DNA sequencer (ABI 3500). The sequences obtained were analyzed to classify HBV genotypes/subgenotypes and to analyze the presence of mutations. S/Pol region was amplified and sequenced successfully from 702 samples, which were included in this study. Among these 702 samples, seven genotypes and 12 subgenotypes have been identified. HBV subgenotype A1 was the most frequent (63.7%, 447/702), followed by HBV/D3 (14.5%; 102/ 702). The remaining genotypes and subgenotypes identified and their frequencies were as follows: A2 (3.3%, 23/702), A3 (0.1%, 1/702), B1 (0.1%, 1/702), B2 (0.1%, 1/702), C2 (0.9%, 6/702), D1 (0.9%, 6/702), D2 (4.6%, 32/702), D4 (5.1%, 36/702), D unclassified subgenotype (0.7%, 5/702), E (0.6%, 4/702), F2a (4.6%, 32/702), F4 (0.4%, 3/702), and G (0.4%, 3/702). HBV strains harboring mutations conferring NA resistance alone (rtS202G, rtM204V/I, rtA194T,...
