BACKGROUNDSpinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein.
METHODSWe conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy. The primary end points were a motor-milestone response (defined according to results on the Hammersmith Infant Neurological Examination) and event-free survival (time to death or the use of permanent assisted ventilation). Secondary end points included overall survival and subgroup analyses of event-free survival according to disease duration at screening. Only the first primary end point was tested in a prespecified interim analysis. To control the overall type I error rate at 0.05, a hierarchical testing strategy was used for the second primary end point and the secondary end points in the final analysis.
RESULTSIn the interim analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (21 of 51 infants [41%] vs. 0 of 27 [0%], P<0.001), and this result prompted early termination of the trial. In the final analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (37 of 73 infants [51%] vs. 0 of 37 [0%]), and the likelihood of event-free survival was higher in the nusinersen group than in the control group (hazard ratio for death or the use of permanent assisted ventilation, 0.53; P = 0.005). The likelihood of overall survival was higher in the nusinersen group than in the control group (hazard ratio for death, 0.37; P = 0.004), and infants with a shorter disease duration at screening were more likely than those with a longer disease duration to benefit from nusinersen. The incidence and severity of adverse events were similar in the two groups.
CONCLUSIONSAmong infants with spinal muscular atrophy, those who received nusinersen were more likely to be alive and have improvements in motor function than those in the control group. Early treatment may be necessary to maximize the benefit of the drug. (Funded by Biogen and Ionis Pharmaceuticals; ENDEAR ClinicalTrials.gov number, NCT02193074.)
ADHD was the only phenotypic manifestation of this novel mutation of thyroid hormone (TH) receptor. TRIAC is an effective and safe drug in the long-term treatment of children with RTH.
RESUMOA Diabetes mellitus gestacional é a situação hiperglicêmica identificada no período da gravidez. O que é sempre indicado como forma de tratamento são os exames de rotina, atividades físicas, a ingestão de medicamentos orientados pelo médico e dietas, pois são capazes de controlar a glicose sanguínea. Assim, o objetivo dessa abordagem foi de discutir e clarificar sobre a diabetes mellitus gestacional e os possíveis cuidados e complicações, assim como analisar os riscos que a paciente com diabetes gestacional enfrenta e verificar os meios de tratamentos. Posto isto, a metodologia aplicada foi de caráter qualitativa, onde foi realizado uma revisão de literatura, fazendo-se uma consulta a livros, dissertações e em artigos científicos selecionados através de busca nas principais bases de dados Google acadêmico, Scielo e PubMed. Sendo assim, conclui-se que é importante que o profissional de saúde saiba orientar a gestante para que a mesma siga de maneira criteriosa todas as orientações concedidas pelo médico obstetra a fim de se evitar o desenvolvimento da doença e/ou deixe a doença controlada no período gestacional.
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