Asunto(s)
Absceso/diagnóstico , Absceso/transmisión , Toxinas Bacterianas/genética , Guarderías Infantiles , Exotoxinas/genética , Leucocidinas/genética , Infecciones Cutáneas Estafilocócicas/diagnóstico , Infecciones Cutáneas Estafilocócicas/transmisión , Staphylococcus aureus/genética , Staphylococcus aureus/patogenicidad , Absceso/cirugía , Preescolar , Femenino , Genotipo , Humanos , Tamizaje Masivo , Recurrencia , Infecciones Cutáneas Estafilocócicas/cirugía , Virulencia/genéticaRESUMEN
Loss-of-function mutations in the V2 vasopressin receptor (AVPR2) gene have been identified as a molecular basis for X-linked nephrogenic diabetes insipidus (NDI). Herein, we describe a novel deletion mutation at nucleotide position 102 (delG102) found in a Russian family resulting in a frameshift and a truncated receptor protein. Furthermore, we analyzed the AVPR2 gene of two other unrelated boys with NDI from our patient clientele. These patients showed previously described mutations (R137H, R181C). In-depth characterization of the three mutant AVPR2s by a combination of functional and immunological techniques permitted further insight into molecular mechanisms leading to receptor dysfunction. Premature truncation of the AVPR2 (delG102) led to a drastically reduced receptor protein expression in transfected COS-7 cells and, as expected, precluded specific AVPR2 functions. As indicated by different ELISA and binding studies, the R137H mutant was almost completely retained in the cell interior. In contrast to previous studies, the few mutant receptors in the plasma membrane displayed a low (2.3-fold above basal) but significant ability to stimulate the Gs/adenylyl cyclase system. In contrast to the latter mutation, the R181C mutant is properly delivered to the cell surface but the mutation interferes with high affinity vasopressin binding. Impaired ligand binding is reflected in an about 100-fold shift of the concentration-response curve toward higher vasopressin concentrations with only slightly reduced agonist potency.
Asunto(s)
Diabetes Insípida Nefrogénica/fisiopatología , Ligamiento Genético , Receptores de Vasopresinas/fisiología , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Células COS , ADN , Diabetes Insípida Nefrogénica/genética , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Cromosoma XRESUMEN
Review of a rare multisystem disorder with the main symptoms achalasia of the esophagus, alacrimia and glucocorticoid deficiency as well as multiple other symptoms especially of the nervous system. Report of one case diagnosed in the age of 11.5 years with a case history of about 7 years. Description of the danger to live of the affected patients primarily by the underlying glucocorticoid deficiency in various stages with bearing the peril of hypoglycemic shock and even death after heavy stress conditions.
Asunto(s)
Enfermedad de Addison/genética , Acalasia del Esófago/genética , Hidrocortisona/deficiencia , Lágrimas/metabolismo , Enfermedad de Addison/diagnóstico , Hormona Adrenocorticotrópica/sangre , Niño , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Dermatoglifia , Acalasia del Esófago/diagnóstico , Genes Recesivos/genética , Humanos , Masculino , SíndromeAsunto(s)
Sífilis/historia , Antropología Cultural , Antropología Física , Florida , Historia Antigua , HumanosRESUMEN
On the basis of the occurrence of myopathy in a clofibric acid treated child with diabetes insipidus, three other children with the same diseases were examined in order to find indications for a myopathic side-effect of the drug. When the children were found to have increased creatine phosphokinase activity and EMG changes, two of the authors took clofibric acid themselves. In both test persons subclinical myopathy was produced. After stopping the drug, transitional hypertriglyceridaemia occurred. These side-effects should serve as a warning of an uncritical application of clofibric acid and its esters.
