To date, hydroxyurea is the only effective and safe drug that significantly reduces morbidity and mortality of individuals with Sickle cell disease. Twenty years of real-life experience has ...demonstrated that hydroxyurea reduces pain attacks, vaso-occlusive events, including acute chest syndrome, the number and duration of hospitalizations and the need for transfusion. The therapeutic success of hydroxyurea is directly linked to access to the drug, the dose used and adherence to treatment which, in part, is correlated to the availability of hydroxyurea. This consensus aims to reduce the number of mandatory exams needed to access the drug, prioritizing the requesting physician's report, without affecting patient safety.
The prognostic significance of the additional abnormalities to the t(15; 17) remains controversial. We report a case of promyelocytic leukemia (APL) in a ten-year-old boy. Classical and molecular ...cytogenetic (FISH) studies of a bone marrow sample obtained at diagnosis revealed the presence of trisomy of chromosome 11 as an additional chromosomal abnormality to the t(15; 17). The presence of the translocation t(15; 17), the cytogenetic marker of APL, is usually associated with good response to treatment with ATRA. In this case, although the patient had risk factors associated with good prognosis, he evolved and died quickly. So it seems that the presence of the trisomy 11 may be associated with disease progression and the poor outcome. To our knowledge, this is the first reported case of t(15; 17) associated with trisomy of chromosome 11 in a child with APL.
The understanding of leukemogenesis in early-age acute leukemia (EAL) has improved remarkably. Initiating somatic mutations detected in dried neonatal blood spots (DNBS) and in cord blood samples of ...affected children with leukemia have been proven to be acquired prenatally. However, to date, few epidemiological studies have been carried out exploring EAL that include infants and children 13–24 months of age at the diagnosis. Maternal exposure to transplacental DNA-damaging substances during pregnancy has been suggested to be a risk factor for EAL. Most cases of infants with acute lymphoblastic (i-ALL) or myeloid leukemia (i-AML) have KMT2A gene rearrangements ( KMT2A-r ), which disturb its essential role as an epigenetic regulator of hematopoiesis. Due to the short latency period for EAL and the fact that KMT2A-r resembles those found in secondary AML, exposure to topoisomerase II inhibitors has been associated with transplacental risk as proxi for causality. EAL studies have been conducted in Brazil for over two decades, combining observational epidemiology, leukemia biology, and clinical data. EAL was investigated considering (i) age strata (infants vs. 13–24 months-old); (ii) somatic mutations associated with i-ALL and i-AML; (iii) ethnic-geographic variations; (iv) contribution of maternal genotypes; and (v) time latency of exposures and mutations in DNBS. Interactions of acquired and constitutive gene mutations are challenging tools to test risk factor associations for EAL. In this review we summarize the EAL scenario (including B-cell precursor-ALL, T-ALL, and AML) results combining environmental and genetic susceptibility risk factors and we raise questions that should be considered for further action.
OBJETIVO: Avaliar o estado nutricional antropométrico de crianças e adolescentes com doença falciforme, atendidas em um hospital de pediatria no município do Rio de Janeiro. MÉTODOS: Trata-se de ...estudo descritivo transversal, com dados extraídos dos prontuários. Foram coletadas variáveis antropométricas, sociodemográficas, clínicas e hematológicas referentes à última consulta da criança no ano de 2006. RESULTADO: A amostra foi composta por 161 crianças e adolescentes. Dentre elas, 15,5% apresentaram baixa estatura (estatura/idade <-2 escore-Z), e 5,7%, magreza (índice de massa corporal/idade <-2 escore-Z). Crianças de baixo peso ao nascer e cujo responsável não vive com o companheiro apresentaram menor escore-Z para o índice altura/idade do que crianças de peso adequado ao nascimento (p=0,030) e cujo responsável vive com o companheiro (p=0,003). CONCLUSÃO: Crianças e adolescentes com doença falciforme apresentaram maior prevalência de baixa estatura e magreza em relação à população geral. Por outro lado, o baixo peso ao nascer e o fato de o responsável não viver com o companheiro foram fatores associados com a menor estatura da criança.
O autocuidado na doenca falciforme Araujo, Paulo Ivo C.
Revista brasileira de hematologia e hemoterapia,
09/2007, Letnik:
29, Številka:
3
Journal Article
Odprti dostop
A doença falciforme é a doença hereditária mais freqüente no nosso país. A hemoglobina S está presente em 4% a 6% da nossa população. Acredita-se que nasçam 3.500 crianças com doença falciforme por ...ano no Brasil. A doença falciforme tem sintomatologia muito variada com alta mortalidade e morbidade diretamente relacionada com a própria doença. A atenção integral descentralizada, multidisciplinar, humanizada, de qualidade e com ênfase no autocuidado pode modificar a história natural da doença reduzindo sua morbimortalidade. O presente artigo tem como objetivo mostra o autocuidado em doença falciforme em quatro fases distintas da pessoa afetada pela doença - criança, adolescência, gestante e adulto, ensinando as estratégias adequadas para tratar os diagnósticos de risco nestas diversas fases.
Sickle cell disease is the most common monogenic hereditary disease in Brazil. Although strokes are one of the main causes of morbidity and mortality in these patients, the use of transcranial ...Doppler to identify children at risk is not universally used.
To develop Brazilian guidelines for the use of transcranial Doppler in sickle cell disease children and adolescents, so that related health policies can be expanded, and thus contribute to reduce morbidity and mortality.
The guidelines were formulated in a consensus meeting of experts in transcranial Doppler and sickle cell disease. The issues discussed were previously formulated and scientific articles in databases (MEDLINE, SciELO and Cochrane) were carefully analyzed. The consensus for each question was obtained by a vote of experts on the specific theme.
Recommendations were made, including indications for the use of transcranial Doppler according to the sickle cell disease genotype and patients age; the necessary conditions to perform the exam and its periodicity depending on exam results; the criteria for the indication of blood transfusions and iron chelation therapy; the indication of hydroxyurea; and the therapeutic approach in cases of conditional transcranial Doppler.
The Brazilian guidelines on the use of transcranial doppler in sickle cell disease patients may reduce the risk of strokes, and thus reduce the morbidity and mortality and improve the quality of life of sickle cell disease patients.
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