ABSTRACT
OBJECTIVES: A mutation in the JAK2 gene, V617F, has been identified in several BCR-ABL1 negative myeloproliferative neoplasms (MPN): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Defining the presence or absence of this mutation is an essential part of clinical diagnostic algorithms and patient management. Here, we aimed to evaluate the performance of three PCR-based assays: Amplification Refractory Mutation System (ARMS), High-Resolution Melting analysis (HRM), and Sanger direct sequencing, and compare their results with those obtained by a PCR restriction fragment polymorphism assay (PCR-RFLP). DESIGN AND METHODS: We used blood samples from 136 patients (PV=20; PMF=20; ET=28, and other MPN suspected cases=68). RESULTS: Comparable results were observed among the four assays in patients with PV, PMF, and MPN suspected cases. In patients with a diagnosis of ET, the JAK2 V617F mutation was detected in 67.8% of them by the PCR-ARMS and PCR-HRM assay and in 64% of them by the conventional Sanger sequence approach. The PCR-ARMS and PCR-HRM assays were 100% concordant. With these tests, only one of the 20 patients with ET and one of the three patients with clinically suspected MPN gave different results compared with those obtained by the PCR-RFLP. CONCLUSIONS: Our results have demonstrated that the PCR-ARMS and PCR-HRM assays could detect the JAK2 V617F mutation effectively in MPN patients, but PCR-HRM assays are rapid and the most cost-effective procedures.
ABSTRACT
Há um amplo espectro de doenças causadas por estreptococos do grupo A (GAS), e estas são consideradas um problema de saúde pública em países em desenvolvimento, com aproximadamente 600 milhões de casos/ano. As infecções causadas por GAS podem ocasionar doenças invasivas como faringite e pioderma com seqüelas auto-imunes graves como a febre reumática (FR) e glomerulonefrite. A FR acomete principalmente crianças e jovens, inicia com poliartrite na maioria dos casos. Tem como sequelas principais a coreia de Sydenham e a doença reumática cardíaca (DRC), considerada a forma mais grave da doença e caracterizada por lesões cardíacas valvares progressivas e permanentes, que necessitam de cirurgias cardíacas para correção valvular, com alto custo para os Sistemas de Saúde, no mundo. A presente revisão descreve os principais mecanismos desencadeadores das lesões reumáticas no coração e o desenvolvimento da vacina contra o Streptococcus pyogenes para prevenção das principais sequelas decorrentes das streptococcias.
Group A streptococci (GAS) infections are considered a public health problem in developing countries, with about 600 million cases per year and are responsible for an wide spectrum of diseases, mainly invasive diseases as pharyngitis and pyoderma that lead to rheumatic fever (RF) and glomerulonephritis autoimmune sequelae. RF affects children and young adults, and presents differentmanifestations such as rheumatic heart disease (RHD), Sydenham chorea, erythema marginatum, subcutaneousnodules. RHD is considered the most serious complications leading to cardiac valvular lesions characterized byprogressive and permanent heart-valve damage, which entails high cost to the Healthy System around the world. In the present review we described the mechanisms that lead to rheumatic heart lesions and the development of avaccine against Streptococcus pyogenes.
