A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (<35 repeats) are rare in centenarians

BACKGROUND: In studies on the genetics of human aging, we observed an age-related variation of the 3'APOB-VNTR genotypic pool (alleles: Short, S, <35 repeats; Medium, M, 35–39 repeats; Long, L, >39 repeats) with the homozygous SS genotype showing a convex frequency trajectory in a healthy aging population. This genotype was rare in centenarians, thus indicating that the S alleles are unfavorable to longevity, while common in adults, thus indicating a protective role at middle age. This apparent paradox could be due to possible effects exerted by the above polymorphism on lipidemic parameters. Aim of the work was to get insights into these puzzling findings METHODS: We followed a double strategy. Firstly, we analyzed the average effects of S (α(S)), M (α(M)), and L (α(L)) alleles on lipidemic parameters in a sample of healthy people (409 subjects aged 20–102 years) recruited in Calabria (southern Italy). The (α(S)), (α(M)), and (α(L)) values were estimated by relating 3'APOB-VNTR genotypes to lipidemic parameters, after adjustment for age, sex and body mass index (multiple regression). Then, we analyzed the S alleles as susceptibility factors of Cardiovascular Atherosclerotic Disease (CD) in CD patients characterized either by low serum HDL-Cholesterol or by high serum LDL-Cholesterol (CD-H and CD-L patients, 40 and 40 subjects respectively). The Odds Ratios (OR) were computed for carriers of S alleles in CD-H and CD-L patients matched for origin, sex and age with controls extracted from the sample of healthy subjects. RESULTS: By the analysis of the healthy sample group we found that the S alleles lower the average values of serum Total Cholesterol (α(S )= -5.98 mg/dL with [-11.62 ÷ -0.74] 95% confidence interval) and LDL-Cholesterol (α(S )= -4.41 mg/dL with [-8.93 ÷ -0.20] 95% confidence interval) while the alleles M and L have no significant effect on the lipidemic phenotype. In line with these findings, the analysis of CD patients showed that the S alleles are protective as for CD-L (O.R. = 0.55 with [0.21 ÷ 0.98] 95% confidence interval) while neutral as for CD-H (O.R. = 0.75 with [0.32 ÷ 1.60] 95% confidence interval). CONCLUSION: On the whole, the S alleles would be advantageous in adults (by protecting from CD-L) while dangerous in the elderly, probably by lowering serum cholesterol below a critical threshold. This could explain the convex frequency trajectory of SS genotypes previously observed in a healthy aging population

Aneurysm of antecubital vein: an unusual complication of peripheral intravenous cannulation

<p>Abstract</p> <p>Background</p> <p>Intravenous cannulation is a very common procedure. Venous aneurysm secondary to peripheral intravenous cannulation is extremely rare. Moreover, venous aneurysm can mimic other conditions and may confuse the issue.</p> <p>Case presentation</p> <p>We describe a case of a 45-year-old woman who was referred with the diagnosis of varicose vein of right arm. A history of intravenous cannulation at the same site was noted that raised suspicion. The swelling was compressible and turned out to be a venous aneurysm. The lesion was completely excised. Postoperative recovery was uneventful. Histology findings were in conformity with the preoperative diagnosis.</p> <p>Conclusion</p> <p>Caution should be exercised in diagnosing varicose vein at a site that bears a history of intravenous cannulation. The case also raises an important issue regarding consent. Should patients undergoing peripheral intravenous cannulation be warned of this rare complication?</p

A challenging hernia: primary venous aneurysm of the proximal saphenous vein

Introduction: Primary venous aneurysm is a rare, but essential consideration in the diVerential diagnosis of an inguinal and femoral hernia. Methods: We report a case of a 43-year-old man who was referred for evaluation and treatment of a femoral hernia. Results: The patient presented with a 3-month history of an asymptomatic tumor on his right upper inner thigh. Physical examination noted a non-tender, non-indurated tumor. Conclusion: Surgical exploration demonstrated a primary venous aneurysm of the proximal saphenous vein

Visualizing Interactions along the Escherichia coli Twin-Arginine Translocation Pathway Using Protein Fragment Complementation

The twin-arginine translocation (Tat) pathway is well known for its ability to export fully folded substrate proteins out of the cytoplasm of Gram-negative and Gram-positive bacteria. Studies of this mechanism in Escherichia coli have identified numerous transient protein-protein interactions that guide export-competent proteins through the Tat pathway. To visualize these interactions, we have adapted bimolecular fluorescence complementation (BiFC) to detect protein-protein interactions along the Tat pathway of living cells. Fragments of the yellow fluorescent protein (YFP) were fused to soluble and transmembrane factors that participate in the translocation process including Tat substrates, Tat-specific proofreading chaperones and the integral membrane proteins TatABC that form the translocase. Fluorescence analysis of these YFP chimeras revealed a wide range of interactions such as the one between the Tat substrate dimethyl sulfoxide reductase (DmsA) and its dedicated proofreading chaperone DmsD. In addition, BiFC analysis illuminated homo- and hetero-oligomeric complexes of the TatA, TatB and TatC integral membrane proteins that were consistent with the current model of translocase assembly. In the case of TatBC assemblies, we provide the first evidence that these complexes are co-localized at the cell poles. Finally, we used this BiFC approach to capture interactions between the putative Tat receptor complex formed by TatBC and the DmsA substrate or its dedicated chaperone DmsD. Our results demonstrate that BiFC is a powerful approach for studying cytoplasmic and inner membrane interactions underlying bacterial secretory pathways

Shy-Drager syndrome a case report with polysomnography

The authors report a case of Shy-Drager syndrome in a 53 year-old male patient. Autonomic failure was made evident by physical examiration as well as laboratory tests. A sleep recording showed decreased percentage of REM sleep and apneas of the central type. The possible mechanisms for this sleep disorder are discussed