Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth

SUMMARY CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained. We report a girl with CHARGE syndrome due to a de novo frameshift mutation in the CHD7 gene (c.2509_2512delCATT), in whom recurrent hypoglycaemia led to the diagnosis of GH deficiency in the second month of life. Early initiation of treatment with recombinant GH resulted in normal growth over ten years of follow-up. This case is the youngest reported CHARGE patient to be diagnosed and treated for GH deficiency and demonstrates that GH deficiency in CHARGE syndrome may manifest early in life through hypoglycaemia, before growth retardation is noted, and can be successfully treated with recombinant GH.

O jato de ar quente como estímulo punidor em rattus norvegicus / The hot air blast as punisher stimulus in rattus norvegicus

Na pesquisa experimental sobre controle aversivo, o choque elétrico tem sido predominantemente utilizado como estímulo punidor. O presente trabalho descreve o uso de um equipamento que emite um jato de ar quente o qual pode ser um estímulo alternativo a ser usado em estudos sobre contingências aversivas. A função punidora do jato de ar quente foi avaliada tanto quando aplicado continuamente (CRF) quanto intermitentemente (FR3) e nos dois casos foi registrada supressão parcial (98,4 por cento e 71,15 por cento, respectivamente) da resposta de pressão à barra previamente fortalecida de forma contínua. A supressão foi maior na punição contínua, corroborando os dados com choque elétrico descritos na literatura. O equipamento e o estímulo mostraram-se adequados do ponto de vista técnico e científico e o aparato pode ser uma alternativa atraente do ponto de vista econômico.

In experimental research on aversive control, electric shock has been predominantly used as a punisher stimulus. The present work describes the use of an apparatus that produces a hot air blast which can be an alternative stimulus to be used in research on aversive contingencies. The punishing function of the hot air blast was evaluated in both continuous (CRF) and intermittent (FR3) schedules and, in both cases, a partial suppression (98,4 percent and 71,15 percent, respectively) of the lever press responding was found, after a history of the continuous reinforcement. Suppression was bigger when the punishing stimulus was applied continuously and these data corroborate the data obtained with electric shock, described in the literature. Both the apparatus and the stimulus seemed to be appropriate from a technical and scientific perspective and the apparatus may become an attractive alternative from a financial standpoint.