MODY 2: report of two cases with a new gene mutation in GCK

La diabetes MODY (Maturity Onset Diabetes of the Young) comprende un grupo heterogéneo de enfermedades monogénicas que se caracterizan por la disfunción de las células β. Se estima que ellas son responsables de 2-5% de los casos de diabetes. Se conocen más de 200 mutaciones en el gen de la glucoquinasa (GCK). En este trabajo se expone el caso de dos hermanas en las cuales se realizó el diagnóstico de MODY 2 a través del estudio genético, hallándose una mutación del gen de la GCK no descripto previamente en la bibliografía.MODY (maturity onset diabetes of the young) includes a heterogeneous group of monogenic diseases which are characterized by dysfunction of beta cells. It accounts for 2-5% of all cases of diabetes. Over 200 mutations in the glucokinase (GCK) gene are known. In this paper we discuss the cases of two sisters in which the diagnosis of MODY 2 was performed by genetic studies, and report the finding of a mutation in the GCK gene not previously described in the literature.Fil: Chiarpenello, J.. Centro de Endocrinología de Rosario; Argentina. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Fernández, L.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Riccobene, A.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Baella, A.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Strallnicof, M.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Castagnani, V.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Herrera, M.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Sermasi, V.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Laurenti, N.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Carretto, H.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; Argentina. Centro de Endocrinología de Rosario; ArgentinaFil: Baquedano, María Sonia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentin

Glycaemic variability, infections and mortality in a medical-surgical intensive care unit.

In critically ill patients, glycaemic variability (GV) was reported as a better predictor of mortality than mean blood glucose level (BGL). We compared the ability of different GV indices and mean BGLs to predict mortality and intensive care unit-acquired infections in a population of ICU patients.Retrospective study on adult ICU patients with ≥ three BGL measurements. GV was assessed by SD, coefficient of variation (CV) and mean amplitude of glycaemic excursion (MAGE), and by one timeweighted index, the glycaemic lability index (GLI), and compared with mean BGL. We studied 2782 patients admitted to the 12-bed medical-surgical ICU of a teaching hospital from January 2004 until December 2010.Logistic regression analyses were performed to assess the association between GV and ICU mortality and ICU-acquired infections. The areas under receiver operating characteristic curves were calculated to compare the discriminatory ability of GV and mean BGL for infections and mortality.Mortality was 16.6%, and 30% of patients had at least one infection. Patients with infections or diabetes or who were treated with insulin had a higher mean BGL and GV than other patients. GLI, SD, CV and MAGE were significantly associated with infections and mortality; mean BGL was not. Quartiles of increasing GLI were independently associated with higher mortality and an increased infection rate. Patients in the upper quartile of mean BGL and GLI had the strongest association with infections (odds ratio, 5.044 [95% CI, 1.695-15.007]; P = 0.004).High GV is associated with higher risk of ICUCrit acquired infection and mortality

Glycaemic variability, infections and mortality in a medical-surgical intensive care unit.

In critically ill patients, glycaemic variability (GV) was reported as a better predictor of mortality than mean blood glucose level (BGL). We compared the ability of different GV indices and mean BGLs to predict mortality and intensive care unit-acquired infections in a population of ICU patients.Retrospective study on adult ICU patients with ≥ three BGL measurements. GV was assessed by SD, coefficient of variation (CV) and mean amplitude of glycaemic excursion (MAGE), and by one timeweighted index, the glycaemic lability index (GLI), and compared with mean BGL. We studied 2782 patients admitted to the 12-bed medical-surgical ICU of a teaching hospital from January 2004 until December 2010.Logistic regression analyses were performed to assess the association between GV and ICU mortality and ICU-acquired infections. The areas under receiver operating characteristic curves were calculated to compare the discriminatory ability of GV and mean BGL for infections and mortality.Mortality was 16.6\%, and 30\% of patients had at least one infection. Patients with infections or diabetes or who were treated with insulin had a higher mean BGL and GV than other patients. GLI, SD, CV and MAGE were significantly associated with infections and mortality; mean BGL was not. Quartiles of increasing GLI were independently associated with higher mortality and an increased infection rate. Patients in the upper quartile of mean BGL and GLI had the strongest association with infections (odds ratio, 5.044 [95\% CI, 1.695-15.007]; P = 0.004).High GV is associated with higher risk of ICUCrit acquired infection and mortality