RESUMEN

A male infant with malignant osteopetrosis was treated with high doses of 1 alpha-hydroxyvitamin D3 and interferon gamma. Therapy with 1 alpha-hydroxyvitamin D3 increased the serum calcium level despite the markedly elevated serum level of 1 alpha, 25-dihydroxyvitamin D before treatment. Recombinant human interferon gamma increased neither the bone mineral nor matrix turnover, and was not tolerated because of bone marrow suppression.

Asunto(s)

Hidroxicolecalciferoles/uso terapéutico , Interferón gamma/uso terapéutico , Osteopetrosis/terapia , Relación Dosis-Respuesta a Droga , Quimioterapia Combinada , Humanos , Hidroxicolecalciferoles/farmacología , Lactante , Interferón gamma/farmacología , Masculino , Osteopetrosis/diagnóstico , Osteopetrosis/metabolismo , Proteínas Recombinantes

RESUMEN

Cytogenetic studies in a girl with ventricular septal defect and mosaicism for trisomy 21 showed that trisomy was present in most cells from the myocardium and lung but in only a minority from the skin and lymphocytes. These findings emphasize the importance of tissue-specific mosaicism as a cause of certain cardiovascular diseases.

Asunto(s)

Síndrome de Down/genética , Conducto Arterioso Permeable/genética , Defectos del Tabique Interventricular/genética , Mosaicismo , Preescolar , Cromosomas Humanos Par 21 , Citogenética , Femenino , Humanos , Lactante , Recién Nacido , Pulmón/patología , Miocardio/patología , Polimorfismo Genético/genética , Piel/patología