Clinical characterization and genetic analysis of 5 Chinese families with glucokinase gene mutations / 中华内分泌代谢杂志

Objective:To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1: c.555delT (P.leu186CysFS Ter19) and M3: c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes. Conclusion:Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.

Hiperglucemia en ayuno como factor pronóstico en cirugía cardíaca / Fasting hyperglycemia as a prognostic factor in cardiac surgery

Introducción: La hiperglucemia de ayuno es un factor pronóstico en cirugía. Encontrar el umbral de riesgo mayor en cirugía cardiovascular es una necesidad en la práctica médica actual. Objetivo: Estimar el umbral glucémico ideal de ayuno para un mejor pronóstico en la evolución clínica de los pacientes sometidos a cirugía cardiaca. Métodos: Se realizó un estudio descriptivo prospectivo en pacientes sometidos a cirugía cardíaca, en el Hospital Hermanos Ameijeiras durante el periodo de enero a junio del año 2017. La muestra quedó constituida por 191 pacientes, a todos los pacientes se les determinó glucemia de ayuno. Se empleó la prueba de independencia Ji-cuadrado (X2) para evaluar la asociación entre variables. Se realizó un análisis de regresión logística para identificar el efecto independiente de las variables estudiadas. Además, se construyó una curva Receiver Operating Characteristic Curve (por sus siglas en inglés) en la que se graficaron especificidad 1 y sensibilidad para cada punto de corte definido para los valores glucémicos. Resultados: La edad de los pacientes predominó entre 40-69 años, el sexo masculino representó 60,7 por ciento de la muestra, el 55,5 por ciento presentó glucemias normales y solo el 1,6 por ciento presentó glucemias mayores a 15 mmol/L. El 33,5 por ciento presentó algún tipo de complicación, los pacientes que presentaron complicaciones tenían la glucemia por encima de 9,9 mmol/L en el 84,4 por ciento. En el análisis multivariado solo hubo significación estadística para la aparición de complicaciones para la glucemia mayor a 10 mmol/L. Conclusiones: La hiperglucemia de ayuno se asoció a mayor riesgo de complicaciones(AU)

Introduction: Fasting hyperglycemia is a prognostic factor in surgery. Finding the highest risk threshold in cardiovascular surgery is a necessity in current medical practice. Objective: To estimate the ideal fasting glycemic threshold for a better prognosis in the clinical evolution of patients undergoing cardiac surgery. Methods: A prospective descriptive study was carried out in patients undergoing cardiac surgery, at Hermanos Ameijeiras Hospital from January to June 2017. The sample consisted of 191 patients; fasting blood glucose was determined in all patients. The Chi-square (X2) test of independence was used to evaluate the association between variables. A logistic regression analysis was performed to identify the independent effect of the variables studied. In addition, a Receiver Operating Characteristic Curve was constructed in which 1-specificity and sensitivity were plotted for each cut-off point defined for the glycemic values. Results: The 40-69 years age of the patients predominated, the male sex represented 60.7 percent of the sample, 55.5 percent had normal blood glucose levels and only 1.6 percent showed blood glucose levels higher than 15 mmol/L. Moreover, 33.5 percent had some type of complication; the patients with complications had blood glucose levels above 9.9 mmol/L in 84.4 percent. In the multivariate analysis, there was only statistical significance for the appearance of complications for glycaemia higher than 10 mmol/L. Conclusions: Fasting hyperglycemia was associated with higher risk of complications(AU)

Usefulness of Glycated Hemoglobin as Diagnostic Criteria for Metabolic Syndrome

The metabolic syndrome (MetS) is the clustering of cardiovascular risk factors and known as a powerful predictor of diabetes and cardiovascular disease. Glycated hemoglobin (HbA1c) is used as one of the diagnostic criteria for diabetes and category of increased risk for diabetes. We examined the usefulness of HbA1c as a diagnostic tool for MetS and to determine the cut-off value of HbA1c as a criterion for MetS, in non-diabetic Korean subjects. We analyzed 7,307 participants (male: 4,181, 57%) in a medical check-up program, and applied the newly recommended guidelines of the International Diabetes Federation for diagnosis of MetS. The mean HbA1c was 5.54% in all subjects and showed no significant difference between genders. Using receiver-operating characteristic curve, HbA1c value corresponding to the fasting plasma glucose value of 100 mg/dL was 5.65% (sensitivity 52.3%, specificity 76.7%). The prevalence of MetS was 8.5% according to the IDF guideline and 10.9% according to HbA1c value of 5.7%, showing 69.5% agreement rate. The detection rate of MetS increased to 25.7% using the HbA1c criterion of 5.7% instead of fasting hyperglycemia. This study suggests that HbA1c might be used as a diagnostic criterion for MetS and the appropriate cut-off value of HbA1c may be 5.65% in this Korean population.

Comparison of insulin secretion and sensitivity in subcategories of newly diagnosed type 2 diabetes in chinese patients / 中国实用内科杂志

Objective To compare the demographic and anthropometric characteristics of IFH,IPH and CH in a Chinese newly diagnosed diabetes population and to evaluate the metabolic profiles of insulin secretion and insulin sensitivity associated with subcategories of newly diagnosed type 2 diabetes.Methods From Mar.2005 to June 2002,in Qingdao 335 patients with newly diagnosed diabetes were classified into three groups:IFH(n=67),IPH(n=92),and CH(n=176).Meanwhile,411(191males)subjects with age-sex matched were selected as control group. Homeostasis model assessment(HOMA-IR)and LIGUANGWEI index(IAI)were applied to assess the status of insulin resistance.Homeostasis model assessment(HOMA-B)and I_0/G_0 were applied to assess the basic function of islet B cell,and I_ 120 /G_ 120 was applied to assess the postload function of islet B cell. Results HOMA-IR increased and IAI decreased significantly in CH group than in IFH and IPH group(P