Molecular and chromosomal mutations among children with B-lineage lymphoblastic leukemia in Brazil's Federal District

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Acute lymphoblastic leukemia (ALL) accounts for approximately 80% of all acute leukemias during childhood. Chromosomal anomalies resulting from gene fusion, which are frequent in leukemias, create hybrid transcripts, the great majority of which encode transcription factors. We analyzed 88 pediatric patients (median age 7.3 years) who had B-lineage acute lymphoblastic leukemia (B-ALL), using reverse transcriptase-polymerase chain reaction, to look for gene fusion transcripts of TEL/AML1, E2A/PBX1, BCR/ABL p190, and MLL/AF4. The frequencies of these transcripts were 21.21, 9.68, 3.03, and 0%, respectively. All positive cases had a common B-ALL immunophenotype. The low frequency of the TEL/AML1 transcript that is found in developing countries, such as Brazil, may be due to the low incidence of leukemia; this would support Greaves' hypothesis.81345353Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)FAPEAMConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)CNPq [380/4

Transplacental chemical exposure and risk of infant leukemia with MLL gene fusion

Infant acute leukemia (IAL) frequently involves breakage and recombination of the MLL gene with one of several potential partner genes. These gene fusions arise in utero and are similar to those found in leukemias secondary to chemotherapy with inhibitors of topoisomerase II (topo-II). This has led to the hypothesis that in utero exposures to chemicals may cause IAL via an effect on topo-II. We report a pilot case-control study of IAL across different countries and ethnic groups. Cases (n = 136) were population-based in most centers. Controls (n = 266) were selected from inpatients and outpatients at hospitals serving the same populations. MLL rearrangement status was derived by Southern blot analysis, and maternal exposure data were obtained by interviews using a structured questionnaire. Apart from the use of cigarettes and alcohol, very few mothers reported exposure to known topo-II inhibitors. Significant case-control differences were apparent for ingestion of several groups of drugs, including herbal medicines and drugs classified as "DNA-damaging," and for exposure to pesticides with the last two being largely attributable, respectively, to one nonsteroidal anti-inflammatory drug, dipyrone, and mosquitocidals (including Baygon). Elevated odds ratios were observed for MLL +ve (but not MLL -ve) leukemias (2.31 for DNA-damaging drugs, P = 0.03; 5.84 for dipyrone, P = 0.001; and 9.68 for mosquitocidals, P = 0.003). Although it is unclear at present whether these particular exposures operate via an effect on topo-II, the data suggest that specific chemical exposures of the fetus during pregnancy may cause MLL gene fusions. Given the widespread use of dipyrone, Baygon, and other carbamate-based insecticides in certain settings, confirmation of these apparent associations is urgently required.link_to_subscribed_fulltex

Considerações teóricas sobre a relação entre respiração oral e disfonia Theoretical considerations on the relationship between mouth breathing and dysphonia

Sabe-se que a respiração oral pode ocasionar diversas alterações ósseas, posturais, musculares e funcionais, como também, alterações na qualidade e/ou comportamento vocal. Estas alterações podem comprometer a comunicação oral, na qual a voz não consegue desempenhar seu papel básico de transmissão da mensagem verbal e emocional do indivíduo. O indivíduo com respiração oral pode apresentar ressonância nasalizada e a voz pode apresentar alterações no traço de sonoridade, hiper ou hiponasal, ou rouca. A partir de pesquisa nas bases de dados LILACS, SciELO, livros, revistas especializadas sobre o tema, buscamos fazer uma revisão na literatura sobre a relação entre respiração oral e disfonia, analisando a influência das alterações causadas pela respiração oral na qualidade e/ou comportamento vocal. No entanto, foi possível observar que a respiração oral promove uma série de alterações estruturais significativas que refletem nas funções estomatognáticas, interferindo também na fonação. Contudo, poucos autores relatam a possível correlação entre esses dois parâmetros (respiração oral e disfonia).<br>It is known that mouth breathing can lead to several bone, postural, muscular and functional alterations, and also changes on vocal quality and/or vocal behavior. These alterations can compromise oral communication, in which the voice cannot perform its basic role on the transmission of an individual's verbal and emotional message. Individuals with mouth breathing can present hiper or hiponasal resonance, changes on voicing features and hoarseness. From researches on LILACS and SciELO databases, books and specialized magazines about the subject, it was carried a literature review about the relationship between mouth breathing and dysphonia, analyzing the influence of alterations caused by mouth breathing on vocal quality and/or vocal behavior. It was possible observe that mouth breathing promotes several significant structural alterations, which reflect on stomatognathic functions and on phonation. However, few authors report the possible correlation between mouth breathing and dysphonia

Medidas e proporções antropométricas orofaciais de crianças respiradoras orais Anthropometric orofacial measurements and proportions in mouth breathing children

OBJETIVO: Descrever as medidas e proporções orofaciais de crianças respiradoras orais e comparar a média do lado direito da face com a média do lado esquerdo da face, segundo a idade. MÉTODOS: Participaram 100 crianças, de ambos os sexos, com idades entre sete anos e 11 anos e 11 meses, leucodermas, em dentição mista, com diagnóstico de respiração oral. As crianças foram submetidas à avaliação antropométrica, sendo que as medidas orofaciais obtidas foram lábio superior, lábio inferior, filtro, terço superior da face, terço médio da face, terço inferior da face e lados da face. O instrumento utilizado foi o paquímetro eletrônico digital da marca Starrett, Série 727. RESULTADOS: Não houve diferença estatisticamente significativa entre as médias das medidas antropométricas orofaciais das crianças respiradoras orais, segundo a idade, com exceção do terço médio da face e dos lados da face. Não houve diferença estatisticamente significativa entre as médias das proporções orofaciais das crianças respiradoras orais, com exceção da proporção entre o terço superior da face e o terço médio da face. Não houve diferença estatisticamente significativa entre as médias dos lados da face, segundo a idade. CONCLUSÕES: Não houve diferença estatisticamente entre a maioria das médias das medidas e proporções orofaciais de crianças respiradoras orais, segundo a idade.<br>PURPOSE: To describe the orofacial measurements and proportions of mouth breathing children and to compare the average of the right side of the face to the average of the left side of the face, according to age. METHODS: One hundred children of both sexes, with ages ranging from seven to 11 years and 11 months, leukoderms, in mixed dentition period and with mouth breathing diagnosis participated in the study. The children were submitted to anthropometric assessment, and the orofacial measurements obtained were upper lip, lower lip, philtrum, upper face, middle face, lower face and sides of the face. The instrument used was the electronic digital sliding caliper Starrett Series 727. RESULTS: There was statistically no difference among the averages of the anthropometric orofacial measurements of mouth breathing children, according to age, with exception of the middle face and the sides of the face. There was also no difference among the averages of the orofacial proportions of mouth breathing children, with exception of the proportion between upper face and middle face, and between the averages of the sides of the face, according to age. CONCLUSIONS: Statistically, no differences were found among most of the averages of the orofacial measurements and proportions of mouth breathing children, according to age