9p21 Locus Polymorphisms: Risk and Severity Factors of Coronary Artery Disease in Venezuelan Patients

Abstract Background: The 9p21 region is the most relevant locus associated with coronary heart disease in different populations. However, there are no studies that prove that this region is a risk factor in the Venezuelan population. Objectives: To analyze whether or not the 9p21 rs1333049 polymorphism is a risk factor for acute myocardial infarction (AMI) in Venezuelan patients, as well as to investigate its correlation with cardiovascular risk factors (CVRF), age of occurrence, type and severity of infarction, and the correlation of the rs10757274 polymorphism with severity of coronary artery disease. Methods: This was an association study, including 487 unrelated Venezuelan individuals, grouped in 354 patients with AMI and 133 controls. The rs1333049 and rs10757274 polymorphisms were determined using the polymerase chain reaction (PCR) technique with sequence-specific primers. The analysis of association was determined using the SNPStats tool. The continuous variable description and the correlations were performed using the SPSS statistical software. Significance was established at p<0.05. Results: A positive correlation was observed between the rs1333049 polymorphism and the presence of hypertension ( r: 0.145, p: 0.006), and between hypertension and heart infarction ( r: 0.318, p: <0.0001). A positive correlation was found between the rs10757274 polymorphism and the number of coronary vessels that presented obstructive lesions in patients aged ≤ 55 years ( r: 0.276, p: 0.0078). Conclusion: The rs1333049 polymorphism at the 9p21 locus is correlated with hypertension in Venezuelan patients, while the rs10757274 polymorphism is associated with the progression of coronary atherosclerosis, suggested by the correlation with the number of coronary vessels that presented significant obstructive lesions.

Latent Autoimmune Diabetes in Adults: a case report.

Latent Autoimmune Diabetes in Adults (LADA) is an autoimmune endocrine disorder in which despite the presence of antipancreatic islets antibodies in the moment of diagnostics, the progression to beta-cell secretory insufficiency is slow. It is often confused with others types of diabetes and therefore the management is frequently inadequate. We report a clinical case of a 23-year-old man with diagnosis of type 2 diabetes since 6 months ago, poorly controlled with a sulfonylurea, who initially presented 2 months ago from polyuria, polydipsia, and asthenia and 6 kg weight loss. History of past illness was negative, however, his mother relates exclusive breastfeeding during the first 15 days of life and later (until the 6 months) he was fed with infant formula (S-26). Family history revealed a first-degree relative (father) with diabetes mellitus secondary to steroid administration due to diagnosis of bone marrow hypoplasia. Also presents second-degree family history (uncle and grandfather) of type 2 diabetes mellitus. There were no pathologic findings at the physical examination. Anthropometry and laboratory tests were as follows: body mass index (BMI) = 19.66 kg/m, basal and postprandial glycemia = 108, and 276 mg/dL respectively, glycated haemoglobin = 8.9%, basal and postprandial C-peptide (2 hours) = 1.9, and 3.2 ng/mL, homeostasis model assessment of beta cell function: 87.5%, homeostasis model assessment of insulin resistance: 1.6. LADA presumptive diagnosis was confirmed with presence of autoantibodies anti-tyrosin-phosphatase and GAD65. At the time of diagnosis, individuals with LADA present an onset age <50, BMI <25 kg/m2, low magnitude postprandial and basal hyperglycemia, normal or close to normal C-peptide values, and thus not occur with acute hyperglycemic crises. Insulin therapy preserves pancreatic b-cell function, at the point that eventually prescribed insulin doses need to be reduced.

The Maracaibo city metabolic syndrome prevalence study: design and scope.

The metabolic syndrome (MS) is a conglomerate of interrelated risk factors-including obesity, atherogenic dyslipidemia, arterial hypertension, and insulin resistance-which exponentially increase the risk of developing cardiovascular disease and type 2 diabetes mellitus. The purpose of this study was to determine the prevalence of MS according to the criteria published by the International Diabetes Federation, in individuals of both sexes over 18 years of age. This is a cross-sectional study based on MS prevalence in a representative sample from the Maracaibo district, Zulia State. The population of Maracaibo, according to the last census in 2001, was 1,219,927 habitants, with a 2007 population estimation of 1,428,043 habitants according to the National Institute of Statistics (NIS). Likewise, NIS projects that for the year 2009, 59.7% of the population of Venezuela will have individuals over 18 years of age. Using these data, the sample for Maracaibo District corresponds to 1986 individuals with or above 18 years of age. The data recollection was conducted by health professionals and medicine students, previously trained. The participants were subject to inquiry previous written consent and a medical examination, and qualitative variables such as smoking habit, socioeconomic status, physical activity, race, alcoholism, and nutritional habits, and quantitative ones like blood pressure, anthropometry, and blood works were determined. There is clear evidence that there is a lack of research and validated values to use as reference in our country and maybe in Latin America. Taking into account all that has been exposed here, this study will serve as a pilot for the numerous statistical determinations that will soon come afterward, providing first-hand accurate evidence on the behavior of the MS in the Latin American populace.

Insulinorresistencia e hiperinsulinemia como factores de riesgo para enfermedad cardiovascular / Insulin resistance and hyperinsulinemia as risk factors for cardiovascular disease

La Insulinoresistencia se define como un estado metabólico en el cual los efectos periféricos titulares de la insulina se encuentran disminuidos. La resistencia a la acción de esta hormona se compensa mediante un aumento en su secreción por parte de la célula β, resultando en la llamada “hiperinsulinemia compensadora”. Desde hace varios años se ha acumulado suficiente evidencia de que la insulinoresistencia y la hiperinsulinemia están involucradas en el desarrollo de hipertensión arterial, obesidad y diabetes. Igualmente, la hiperinsulinemia esta altamente relacionada con el desarrollo de de dislipidemia caracterizada por aumento de las VLDL y TAG y una disminución de las HDL favoreciendo la aparición de ateroesclerosis. Otra de las patologías que se ha encontrado fuertemente relacionada con la hiperinsulinemia y la insulinoresistencia es la isquemia miocárdica, tanto en su génesis como en su evolución, ya que se ha demostrado que las posibilidades de supervivencia del miocito se ven reducidas por la disminución de la captación de glucosa durante el período isquémico. La hiperinsulinemia también se relaciona con la hipertrofia miocárdica, probablemente debido al efecto directo de la insulina sobre la elevación de la presión arterial, bien por incremento en la reabsorción de Na+ o por hiperactividad simpática. Finalmente, la resistencia a la insulina es muy prevalente en pacientes no diabéticos que han padecido TIA o ACV sin secuelas. Este hallazgo tiene importantes implicaciones terapéuticas si el tratamiento de esta condición es capaz de reducir la prevalencia de enfermedad cerebro-vascular y enfermedad coronaria.