ABSTRACT
Descrição: Relato de caso de um paciente com um transcrito raro (e1a2) na Leucemia Mieloide Crônica (LMC) e outro com uma translocação rara na Síndrome Mielodisplásica (SMD). Discussão: O transcrito e1a2 possui frequência de 1% entre os casos de LMC, já a translocação t(11,17)(q23;q21) não foi evidenciada em paciente com SMD do tipo Anemia Refratária com Excesso de Blastos (AREB) do tipo 2. Conclusão: Ambos os casos apresentados possuem associação incomum entre fenótipo e genótipo. A correlação da clínica com os achados laboratoriais é importante para a determinação fidedigna do diagnóstico e prognóstico destes pacientes.
Description: Case report of a patient with a rare transcript (e1a2) in Chronic Myeloid Leukemia (CML) and another with a rare translocation in Myelodysplastic Syndrome (SMD). Discussion: The transcript e1a2 has a frequency of 1% in CML cases, whereas t (11,17) (q23; q21) translocation was not observed in a patient with type of Refractory Anemia with Excess Blasts (AREB) type 2. Conclusion: Both cases reported have unusual association between phenotype and genotype. The correlation of the clinic with the laboratory findings is important for the reliable determination of the diagnosis and prognosis of these patients.
Subject(s)
Humans , Female , Middle Aged , Phenotype , Translocation, Genetic , Anemia, Refractory , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Leukemia , Hematologic Neoplasms , GenotypeABSTRACT
Abstract High sensitivity of qPCR assay can be compromised by the presence of PCR inhibitors in samples analyzed. The aim of this study was to analyze the RT-qPCR assay efficiency considering the RNA quality/quantity and the presence of PCR inhibitors in patients with chemotherapy and/or antibiotic therapy. We analyzed 60 samples using RT-qPCR from individuals suspected of leukemia and 44 samples were quantified by fluorimetry and spectrophotometry. The efficiency of the RT-qPCR assay was evaluated comparing the threshold cycle (Ct) from tested samples and the standard curve. The 260/280 and 260/230 ratios, the presence of PCR inhibitors and the amount of sample (ng) used in the RT-qPCR reaction can be associated with 56.8% (R²=0.56, p<0.05) in the Ct obtained. The decrease of the RT-qPCR efficiency can be explained in 42,8% due to the variation of the 260/280 ratio (R²=0.42,p<0.05). The presence of antibiotics in the blood sample can be associated in 11.3% with the variability of 260/280 ratio (R²=0.11,p<0.05). Presence of chemotherapeutic drugs in the blood sample was not correlated with Ct variation (p=0.17). The spectrophotometer determines a RNA quantification with 2.2 times higher than the fluorimeter (t=2.2, p=0,03) and this difference is correlated with the 260/280 ratio (R²=0.36, p<0.05). Samples with low purity had a reduction in the qPCR efficiency, although we did not observe false results.
Subject(s)
Humans , Polymerase Chain Reaction/methods , Nucleic Acid Synthesis Inhibitors , Molecular Diagnostic Techniques/methods , Spectrophotometry/instrumentation , Fluorometry/instrumentationABSTRACT
A doença de Huntington (DH) é uma desordem neurodegenerativa, que cursa com distúrbios motores, cognitivos e comportamentais que contribuem para o comprometimento da funcionalidade. Este estudo investigou o grau de funcionalidade e acometimento de indivíduos portadores da DH, com o Índice de Barthel Modificado (IBM) e por meio do Disease Burden Score (DBS). As variáveis analisadas de cada indivíduo foram: a idade atual, o gênero, a idade de início da doença e o número das repetições CAG (gene HTT). Seis indivíduos foram avaliados, três do sexo masculino 63,6 anos (±10,9) e três do sexo feminino 58,3 anos (±14,2) com o diagnóstico genético positivo para DH provenientes do município de Ervália/MG. O sexo feminino apresentou a idade de início menor comparado ao sexo masculino, com média de 38,3 anos (±8,9) e 46,6 anos (±7,6), respectivamente. O valor médio do número de repetições CAG no sexo feminino foi de 46,3 (±4,1) e no sexo masculino, 42,33 (±1,5). O grau de desempenho funcional determinado pelo IBM foi de 9,3 (±1,1) para o sexo feminino, com dependência total, e para o sexo masculino, 36 (±4,3), com dependência severa. O valor médio obtido pelo DBS no sexo feminino foi de 596,8 (±101,9), com maior grau de acometimento da doença comparado ao sexo masculino com 425,1 (±39,2). O grupo de mulheres com DH apresentou início dos sintomas mais cedo com maior número de expansões CAG quando comparado ao grupo masculino. Todos os pacientes apresentaram dependência total em relação à execução das atividades de vida diária. Sugere-se que pesquisas futuras sejam realizadas com maior número de indivíduos afetados pela DH para que os resultados observados sejam confirmados.
Huntington's disease (HD) is a neurodegenerative disorder, presenting with motor, cognitive and behavioral impairments that contribute to the decrease of the functional performance. This study investigated the degree of functionality and impairment of individuals with HD using the Modified Barthel Index (MBI) and the Disease Burden Score (DBS). The following variables were investigated : the age of onset, the gender, the current age and the number of CAG (HTT gene) repeats. Six HD patients from the municipality of Ervália-MG, three males 63.6 years old (±10.9) and three females 58.3 years old (±14.2), who had a positive genetic diagnosis for HD, were investigated. The female group had the lowest age of onset with an average of 38.3 years (±8.9), compared to the male group, with 46.6 years (±7.6). The mean of the number of CAG repeats in the female gender was 46.3 (±4.1) and in the male, 42.33 (±1.5). The degree of functional performance assessed by IBM was 9.3 (±1.1) for the female group, with total dependence, and for the male group, 36 (±4.3), with severe dependence. The mean of DBS value in the female group was 596.8 (±101.9) with a higher degree of disease involvement compared to the male group 425.1 (±39.2). The group of women with HD showed earlier onset of symptoms with a greater number of CAG repeats when compared to the male group. All patients presented total dependence on daily living activities. We strongly suggest further research involving a larger group of individuals affected by HD for statistical validation.