Asunto(s)
Dermatoglifia del ADN , Metástasis de la Neoplasia/diagnóstico , Recurrencia Local de Neoplasia/diagnóstico , Neoplasias Primarias Secundarias/diagnóstico , Adenocarcinoma/genética , Adenocarcinoma/patología , Adenocarcinoma/secundario , Neoplasias del Colon/genética , Neoplasias del Colon/patología , Análisis Mutacional de ADN , Disección , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Metástasis de la Neoplasia/genética , Recurrencia Local de Neoplasia/genética , Neoplasias Primarias Secundarias/genética , Biopsia del Ganglio Linfático CentinelaAsunto(s)
Empalme Alternativo , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 17 , Reacción en Cadena de la Polimerasa/métodos , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Translocación Genética , Adulto , Femenino , Humanos , Leucemia Promielocítica Aguda/diagnóstico , Leucemia Promielocítica Aguda/genética , Proteínas de Neoplasias/genética , Proteínas de Fusión Oncogénica/genéticaRESUMEN
Hereditary pancreatitis (HP) is clinically indistinguishable from pancreatitis with other causes. Patients with HP have an increased chance of developing pancreatitis. Mutations in the cationic trypsinogen gene appear to cause most HP, although there is evidence for mild genetic heterogeneity with defects in other genes. Trypsin stabilization and protection from autolysis appear to play a central role in the pathogenesis of pancreatitis. The role of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) as well as the pancreatic secretory trypsin inhibitor (PSTI) in patients with pancreatitis is intriguing but as yet incompletely understood. Genetic testing may help to identify and manage patients with HP. Healthcare professionals should understand the elements necessary for obtaining informed consent for patients undergoing these tests, the limits in interpreting test results, and the psychosocial issues that may arise from genetic testing.
Asunto(s)
Pruebas Genéticas , Pancreatitis/genética , Enfermedad Aguda , Enfermedad Crónica , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Predisposición Genética a la Enfermedad/epidemiología , Predisposición Genética a la Enfermedad/genética , Humanos , Pancreatitis/diagnóstico , Pancreatitis/etiología , Mutación Puntual/genéticaRESUMEN
Renal salt wasting secondary to 11-beta-hydroxylase deficiency (11-beta-OHD) has been described in a few patients. This report describes an infant with 11-beta-OHD initially thought to be in adrenal crisis with renal salt wasting. Subsequently the sodium loss was found to be due to a secretory diarrhea, and this prompted us to critically review the literature of the previous case reports. In none has the entity of renal salt wasting secondary to 11-beta-OHD been unequivocally confirmed. The entity should remain in doubt until proven by appropriate studies in the future.
Asunto(s)
Hiperplasia Suprarrenal Congénita , Hiponatremia/etiología , Riñón/metabolismo , Sodio/metabolismo , Deshidratación/etiología , Deshidratación/terapia , Diarrea/complicaciones , Fluidoterapia , Humanos , Hidrocortisona/uso terapéutico , Hiponatremia/terapia , Lactante , MasculinoRESUMEN
We have studied the effect of exogenous calcitonin gene-related peptide on net fluxes of water and electrolytes in the rat small and large intestine. In ligated intestinal loops, intravenous calcitonin gene-related peptide (CGRP) induced colonic fluid secretion but had no effect on the small intestine. Subsequently, using a single-pass perfusion technique, we observed an immediate dose-dependent secretion of water by the rat colon upon intravenous administration of CGRP. Net secretion of sodium, potassium, and chloride were also raised. The implications of these observations for the possible involvement of high circulation concentrations of CGRP in the watery diarrhea syndrome accompanying medullary thyroid carcinoma are discussed.
Asunto(s)
Calcitonina/farmacología , Colon/efectos de los fármacos , Neuropéptidos/farmacología , Equilibrio Hidroelectrolítico/efectos de los fármacos , Animales , Péptido Relacionado con Gen de Calcitonina , AMP Cíclico/metabolismo , Secreciones Intestinales/efectos de los fármacos , Masculino , Radioinmunoensayo , Ratas , Ratas Endogámicas , Estimulación QuímicaRESUMEN
Although the purified porcine enteroglucagons glicentin and oxyntomodulin inhibit pentagastrin-stimulated gastrin acid secretion when given parenterally to rats, it is not known whether the postprandial rise in endogenous enteroglucagons is capable of exerting a similar effect. We have used the alpha-glucosidase inhibitor acarbose in combination with a sucrose- and starch-rich semisynthetic diet over 8 days to bring about a mean increase of 89 pmol/l in the fasting plasma enteroglucagon concentration in rats, without significantly affecting plasma gastrin concentrations. There was no significant suppression of pentagastrin-stimulated gastric acid secretion in the acarbose-treated rats, suggesting that endogenous enteroglucagons do not act as physiological inhibitors of gastric acid secretion.
Asunto(s)
Ácido Gástrico/metabolismo , Hormonas Gastrointestinales/sangre , Péptidos Similares al Glucagón/sangre , Glucosidasas/antagonistas & inhibidores , Inhibidores de Glicósido Hidrolasas , Pentagastrina/farmacología , Trisacáridos/farmacología , Acarbosa , Animales , Gastrinas/sangre , Péptidos Similares al Glucagón/fisiología , Masculino , Oxintomodulina , Péptidos/sangre , Ratas , Ratas EndogámicasRESUMEN
In a preliminary study, 11 male patients with lepromatous leprosy were evaluated with regard to endocrinopathy and hormonal status. Basal circulating hormone levels were estimated with a view to correlating the biochemical findings and clinical features. Thyroid hormones T3 and T4, Free Thyroxine Index (FTI), TSH, and cortisol were within normal limits, indicating that further study of these hormones would not be worthwhile. The finding of elevated levels of prolactin as well as the gonadotrophins LH and FSH, however, promises to yield more valuable information if studied in greater detail in a larger group of patients.
