RESUMO
We describe a patient with Hirschsprung disease and autism. High-resolution karyotyping indicated that the patient has an interstitial deletion of 20p11.22-p11.23. Microsatellite analysis showed a deletion involving a 5-6 cM region from the maternally derived chromosome 20. The deleted region is proximal to, and does not overlap, the recently characterized Alagille syndrome region. This region of 20p has not yet been implicated in Hirschsprung disease or autism. However, this region contains several genes that could plausibly contribute to any phenotype that includes abnormal neural development.
Assuntos
Transtorno Autístico/complicações , Transtorno Autístico/genética , Deleção Cromossômica , Cromossomos Humanos Par 20/genética , Doença de Hirschsprung/complicações , Doença de Hirschsprung/genética , Síndrome de Alagille/genética , Criança , Cromossomos Humanos Par 20/ultraestrutura , Feminino , Impressão Genômica , Perda Auditiva/complicações , Perda Auditiva/genética , Humanos , Masculino , FenótipoAssuntos
Consumo de Oxigênio , Esforço Físico , Adulto , Braço/fisiologia , Teste de Esforço , Humanos , Masculino , Matemática , Modelos Biológicos , RespiraçãoRESUMO
The inhibitory (relaxation) effects of five purine derivatives (ATP, ADP, AMP, Adenosine and Guanosine) on guinea pig tracheal and lung parenchymal smooth muscle were investigated. The tracheal spirals and parenchymal strips were bisected longitudinally and all twins submaximally precontracted with histamine. Isoproterenol was applied to one set of tracheal and parenchymal strips, and one of the purine derivatives to the other to produce cumulative concentration-effect relationships. For tracheal tissues, the isoproterenol curves did not differ significantly and could be pooled for comparison. Analysis of the EC50 values by Tukey's Studentized (HSD) test of mean isoproterenol and purine curves from tracheal tissue showed that isoproterenol values differed significantly from those of all the purines; there were no significant differences between the purine values. In parenchymal strips, isoproterenol values could not be pooled. Comparison of EC50 values for each purine derivative with its' isoproterenol group showed that ATP and adenosine did not cause significantly different values from isoproterenol, AMP did cause significant differences, and that ADP and guanosine could not be compared for failure to cause 50% relaxation. ATP responses were not significantly different from those of beta, gamma-methylene ATP, which only slowly degrades, suggesting that ATP has specific receptors in the airways of guinea pigs. In this study purines produced better relaxation in trachea than in parenchyma. A difference in purine receptor distribution between trachea and parenchyma is suggested.