Role of TGF-β1 haplotypes in the occurrence of myocardial infarction in young Italian patients

<p>Abstract</p> <p>Background</p> <p>Transforming growth factor beta 1 (TGF-β1) gene play an important role in the acute myocardial infarction (AMI), however no investigation has been conducted so far in young AMI patients.</p> <p>In this study, we evaluated the influence of TGF-β1 polymorphisms/haplotypes on the onset and progression of AMI in young Italian population.</p> <p>Methods</p> <p>201 cases and 201 controls were genotyped for three TGF-β1 polymorphisms (G-800A, C-509T and Leu10Pro). The main follow-up end-points (mean follow-up, 107 ± 49 months) were death, myocardial infarction or revascularization procedures.</p> <p>Results</p> <p>Significant risk factors were smoking (p < 10^-4), family history for coronary artery disease (p < 10^-4), hypercholesterolemia (p = 0.001) and hypertension (p = 0.002). The C-509T and Leu10Pro polymorphisms showed significant differences (p = 0.026 and p = 0.004) between cases and controls.</p> <p>The most common haplotypes revealed a possible protective effect (GCT, OR 0.75, 95% CI 0.57–0.99, p = 0.042) and an increased risk of AMI (GTC, OR 1.51, 95% CI 1.13–2.02, p = 0.005), respectively.</p> <p>No statistical differences were observed in genotype distribution in the follow-up study between the two groups: 61 patients with subsequent events (13 deaths) and 108 without events.</p> <p>Conclusion</p> <p>Even though our results need to be further confirmed in larger studies, this is the first study reporting on a possible role of TGFβ1 common haplotypes in the onset of AMI in young patients.</p

Oral High-Dose Thiamine Improves the Symptoms of Chronic Cluster Headache

Cluster headache is a rare painful primary disorder occurring in either episodic or chronic patterns. Several authors found that the hypothalamus, the brain region regulating endocrine function and autonomic system, is involved in the pathophysiology of cluster headache. Some authors have found in patients affected by this disease abnormality in glucose metabolism. Considering the role of thiamine in brain function, in energetic metabolism, and in pain modulation, we treated a patient affected by cluster headache with oral high-dose thiamine. We report a 41-year-old man suffering from primary chronic cluster headache since the age of 15 years. The patient began oral therapy with high-dose thiamine in December 2016. Oral thiamine supplementation led to a dramatic improvement of the symptoms. The therapy was effective in reversing all the symptoms of the disease. Our observation suggests that a thiamine deficiency due to enzymatic abnormalities or to dysfunction of the circulation of thiamine in the intracellular space could cause a neuronal selective impairment in the centers that are involved in this disease and could have an important role in the pathogenesis of the symptoms of cluster headache