4 research outputs found
Computerized estimation of spontaneous and evoked acetylcholine release at the neuromuscular junction
A new and automated on-line analysis of the parameters related to the neuromuscular activity is shown. The procedure used to obtain in real time the statistical evaluation of the recorded electrical signals is presented and discussed. The hardware is composed of a PDP-11/73 microcomputer equipped with an analog input/output board. The software is written principally in FORTRAN 77 and also uses MACRO/ASSEMBLY language
Association of glucocorticoid receptor polymorphism A3669G with decreased risk of developing diabetes in patients with Cushing's syndrome
Abstract
OBJECTIVE:
Glucocorticoid receptor (GR) polymorphisms alter glucocorticoid (GC) sensitivity and have been associated with altered metabolic profiles. We evaluate the prevalence of the four GR (NR3C1) polymorphisms BclI, N363S, ER22/23EK, and A3669G in patients with Cushing's syndrome (CS) compared with healthy controls (HC) and we investigate their role in the development of metabolic abnormalities in patients with CS according to their hormonal profile.
PATIENTS AND METHODS:
Sixty-one patients with CS and 71 sex- and age-matched HC were genotyped.
RESULTS:
BclI variant was markedly higher in patients with CS compared with HC (62 vs 41%, P<0.05) while no significant differences were found among other polymorphisms. A very low frequency of N363S and the ER22/23EK was observed. In CS patients, despite the significantly increased levels of morning serum cortisol in BclI carriers compared with wild type no clinical or metabolic differences were found. In contrast, A3669G GR carriers showed a significantly reduced prevalence of type 2 diabetes mellitus compared with wild type (19 vs 68%, P=0.001) despite the higher levels of both serum morning (21.7\ub16 vs 27.3\ub18.6\u200a\u3bcg/dl, P=0.009) and midnight cortisol (18.8\ub15.8 vs 24.0\ub18.0\u200a\u3bcg/dl, P=0.01). The negative association between diabetes and A3669G GR polymorphism remained significant when data were adjusted for potential confounding factors.
CONCLUSIONS:
The A3669G polymorphism of the GR gene plays a protective role in patients with CS, attenuating the effects of GC excess on glucose metabolism as shown by their reduced risk of diabetes
Diagnostic accuracy of increased urinary cortisol/cortisone ratio to differentiate ACTH dependent Cushing's syndrome
Differential diagnosis between Cushing's Disease (CD) and Ectopic ACTH Syndrome (EAS) may be a pitfall for endocrinologists. The increasing use in clinical practice of chromatography and mass spectrometry improves the measurement of urinary free cortisol (UFF) and cortisone (UFE). We have recently observed that cortisol to cortisone ratio (FEr) was higher in a small series of EAS; in this paper we collected a larger number of ACTH-dependent CS to study the role of FEr to characterize the source of corticotropin secretion