Association between +45T>G adiponectin polymorphism gene and type 2 diabetes mellitus and metabolic syndrome in a Venezuelan population.

Background: Adiponectin (ADIPOQ) is a hormone primarily synthesized by adipocytes and encoded by the ADIPOQ gene, which exerts anti-inflammatory, antiatheratogenic and insulin sensitizing functions. It has been shown that its plasma concentrations are decreased in individuals with metabolic syndrome (MS) and type 2 diabetes mellitus (DM2), which could be due to variations in the gene coding for this protein. The aim of this study was to detect the +45 T>G polymorphism of the ADIPOQ gene in subjects with DM2 and MS in Maracaibo municipality, Zulia state, Venezuela. Methods: A total of 90 subjects who attended the Center for Metabolic Endocrine Research "Dr. Félix Gómez" were enrolled for this study, 46 of which had MS-DM2 and 44 of which were healthy control individuals. Genomic DNA was extracted from blood samples and PCR-restriction fragment length polymorphism analysis was carried out for the promoter region of the ADIPOQ gene. Likewise, the +45 T> G polymorphism was identified and correlated with MS and DM2 in the studied population. Results: The most frequent allele in both groups was the T allele, and the predominant genotype was homozygous T/T (79%). Genotypes with heterozygous T/G and G/G homozygous polymorphism were more frequent in the control group than in the MS-DM2 group. Regarding the individuals with T/G and G/G genotypes, statistically significant lower mean values ​​were found for fasting glucose, total cholesterol, triacylglycerides, abdominal circumference, and for the medians of systolic and diastolic blood pressure. Odds ratio were calculated for the presence or absence of MS and DM2. Conclusions: The results suggested that the presence of the G allele exerts a protective effect on the carrier individuals, thus avoiding the appearance of the aforementioned metabolic alterations.

Case Report: An incidentaloma that catches your eye - adrenal myelolipoma.

Background: Adrenal incidentaloma refers to the incidental finding of a tumor in the adrenal gland, where nonfunctional forms are the most common variant. Myelolipoma is a rare (0.08-0.4%) occurrence characterized by adipose and hematopoietic tissue. The aim of this case report is to describe the diagnosis and appropriate management of a myelolipoma in an asymptomatic patient, which was originally considered an incidental hepatic hemangioma prior to being identified as a giant adrenal adenoma. Case description: The patient was a 54 year old obese female with a recent diagnosis of diabetes type II and dyslipidemia with recent ultrasound imaging suggestive of a hepatic hemangioma. An MRI was performed revealing a 7x6cm lesion in the right adrenal area indicating a giant adrenal adenoma. An adrenalectomy was performed without complications. The pathology report identified a myelolipoma. Discussion: The incidence of myelolipoma has recently increased due to advances in radiological techniques. Its etiology is unclear and the most accepted theories support a myeloid cell metaplasia in the embryonic stage as a result of stress, infections, or adrenocorticotropic hormone or erythropoietin stimulus. Contributing components may include bone morphogenetic protein 2 and ß-catenin, as well as the presence of the chromosomal translocation (3, 21) (q25; p11). Despite its benign nature, the association with other adrenal lipomas must be ruled out. A biochemical evaluation is essential for detecting subclinical states, such as Cushing syndrome and pheochromocytoma. Conclusion: Adrenal myelolipomas are rare benign tumors that are generally asymptomatic. Uncertainty still exists surrounding their etiology. Surgical management depends on hormone production, tumor size, high risk features on imaging and patient consent.  Additional information is needed to better understand myelolipomas, their etiology, and clinical management.  Incidentalomas may confuse the physician and patient. Ensuring proper multidisciplinary management based on the clinical guidelines of endocrinology allowed a satisfactory resolution of this case.

Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.

The direct link between lipid metabolism alterations and the increase of cardiovascular risk are well documented. Dyslipidemias, including isolated high LDL-c or mixed dyslipidemia, such as those seen in diabetes (hypertriglyceridemia, high LDL-c or low HDL-c), correlate with a significant risk of cardiovascular and cerebrovascular disease worldwide.  This review analyzes the current knowledge concerning the genetic basis of lipid metabolism alterations, emphasizing lipoprotein lipase gene mutations and the HindIII polymorphism, which are associated with decreased levels of triglycerides and LDL-c, as well as higher levels of HDL-c. These patterns would be associated with decreased global morbidity and mortality, providing protection against cardiovascular and cerebrovascular diseases.