Medidas imitanciométricas em crianças com ausência de emissões otoacústicas Acoustic immittance in children without otoacoustic emissions

Partindo da hipótese de que alterações da função de orelha média possam prejudicar a captação das EOAs, é possível que a ausência destas, em lactentes, esteja associada a discretas alterações timpanométricas. OBJETIVO: Verificar a associação entre resposta de EOAT e alteração imitanciométrica com a sonda de 226Hz em lactentes. MÉTODOS: Estudo de coorte contemporânea com corte transversal. Foram avaliados 20 lactentes com ausência de EOAT (grupo pesquisa) e 101 lactentes com presença de EOAT (grupo comparação), com idades variando entre o nascimento e oito meses. Os lactentes foram submetidos a: timpanometria; pesquisa dos limiares de reflexo acústico contralateral com estímulos de 0,5k, 1k, 2k, 4kHz e ruído de faixa larga; emissões otoacústicas (transiente e por produtos de distorção). O potencial evocado auditivo de tronco encefálico para pesquisa do limiar de resposta foi realizado no grupo pesquisa. RESULTADOS: Observou-se diferença estatisticamente significante entre os grupos (p<0,05), caracterizada pela redução na altura timpanométrica e aumento do limiar de reflexo acústico no grupo pesquisa e a ocorrência de discreto comprometimento de orelha média, no grupo pesquisa, associada às respostas eletrofisiológicas normais. CONCLUSÃO: O uso combinado da timpanometria e do reflexo acústico, em lactentes, acrescenta precisão no diagnóstico de alteração de orelha média.<br>Considering the hypothesis that middle ear changes can impair the recording of otoacoustic emissions, it is possible that absent otoacoustic emissions in infants could be associated with a light tympanometric change. AIM: To study the association between transient otoacoustic emissions and changes in acoustic immittance measurements with 226Hz probe tone in neonates. METHODS: Cross-sectional contemporary cohort study. 20 infants with no transient otoacoustic emissions (study group) and 101 infants with transient otoacoustic emissions (control group), with ages ranged from birth to eight months, were assessed. Infants were submitted to: admittance tympanometry; contralateral acoustic reflex threshold with stimulus of 0.5, 1, 2, 4 kHz and broad band noise; transient and distortion product otoacoustic emissions. The auditory brain response was used to study the threshold in neonates without transient otoacoustic emissions. RESULTS: Significant statistical differences were observed between the groups (p < 0.005), characterized by reduction in tympanometric configuration and increase acoustic reflex thresholds in the study group. These data suggest the occurrence of middle ear mild impairment in infants without transient otoacoustic emissions associated with normal auditory brain response. CONCLUSION: tympanometry associated with acoustic reflex adds accuracy to the diagnosis of middle ear abnormalities

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.

Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases and assessed the frequency of the identified somatic mutations in 94 T-cell acute lymphoblastic leukaemia cases. ETP ALL was characterized by activating mutations in genes regulating cytokine receptor and RAS signalling (67% of cases; NRAS, KRAS, FLT3, IL7R, JAK3, JAK1, SH2B3 and BRAF), inactivating lesions disrupting haematopoietic development (58%; GATA3, ETV6, RUNX1, IKZF1 and EP300) and histone-modifying genes (48%; EZH2, EED, SUZ12, SETD2 and EP300). We also identified new targets of recurrent mutation including DNM2, ECT2L and RELN. The mutational spectrum is similar to myeloid tumours, and moreover, the global transcriptional profile of ETP ALL was similar to that of normal and myeloid leukaemia haematopoietic stem cells. These findings suggest that addition of myeloid-directed therapies might improve the poor outcome of ETP ALL