RESUMEN
Cardiac hemochromatosis, a consequence of primary or secondary iron-overload conditions, poses a threat to patient health, leading to cardiomyopathy and heart failure. This review aims to compile comprehensive information on cardiac hemochromatosis, elucidating its pathophysiology, clinical presentation, diagnosis, and management strategies. Primary and secondary hemochromatosis, genetic and acquired forms, can result in cardiotoxicity by means of iron dysregulation. Diagnostic tools, including biochemical markers, electrocardiography, echocardiography, and magnetic resonance imaging (MRI), are utilized for early detection as well as long-term monitoring post-treatment. For treatment options, phlebotomy is the standard, but for some patients (such as those with anemia), chelation therapy is an alternative option. Other potential therapies include erythrocytapheresis, calcium channel blockers, and hepcidin-targeted approaches, for which more research is needed to understand cardiac function benefits. With the onset of cardiac symptoms, patient health rapidly deteriorates. Thus, timely intervention to mitigate associated morbidity and mortality by means of screening can promote and prolong patient survival.
RESUMEN
Aortic regurgitation (AR), a left-sided valvular heart disease, poses challenges in both diagnosis and treatment. From rheumatic fever to trauma, the vast etiologies of AR can manifest with varying symptoms and disease progression. Nonetheless, without interventions, patients with acute and chronic symptomatic AR have a poor prognosis. This article synthesizes current knowledge on AR management, emphasizing advancements in transcatheter aortic valve implantation (TAVI). While surgical aortic valve replacement remains the gold standard, TAVI has emerged as a promising alternative, particularly for inoperable patients. It is currently used off-label for patients with bicuspid valve and valve-in-valve procedures. Clinical data from various studies underscore TAVI's efficacy in AR, demonstrating improvements in left ventricular function and mortality rates with use of the new-generation devices. However, challenges persist with conditions such as aortic aneurysms, including device positioning and selection. With ongoing technological innovations, TAVI holds potential as a viable option in selected AR patients, necessitating further research for optimized outcomes.
RESUMEN
Colchicine, an established anti-inflammatory drug, is examined for its potential in mitigating adverse cardiovascular events following acute coronary syndrome (ACS). ACS, primarily triggered by plaque rupture and subsequent thrombosis, is a critical cardiovascular condition. Colchicine's mechanism of action involves inhibiting microtubule activity, leading to immobilization of white blood cells and reducing inflammation. Clinical data from studies, including low-dose colchicine for secondary prevention of cardiovascular disease two and colchicine cardiovascular outcomes trial, support its efficacy in reducing major cardiovascular events post-ACS, though some studies report varying results. Colchicine can cause transient gastrointestinal side effects and is prescribed with caution in patients with certain medical conditions. The recent FDA approval of a low dose of colchicine reiterates its benefit in reducing cardiovascular risk. The cost-effectiveness of colchicine products (0.5 and 0.6 mg doses) are compared, suggesting the generic 0.6 mg dose of colchicine to be an alternative to branded forms of the drug.
RESUMEN
Transcriptomic reconstructions without reference (i.e., de novo) are common for data samples derived from non-model biological systems. These assemblies involve massive parallel short read sequence reconstructions from experiments, but they usually employ ad-hoc bioinformatic workflows that exhibit limited standardization and customization. The increasing number of transcriptome assembly software continues to provide little room for standardization which is exacerbated by the lack of studies on modularity that compare the effects of assembler synergy. We developed a customizable management workflow for de novo transcriptomics that includes modular units for short read cleaning, assembly, validation, annotation, and expression analysis by connecting twenty-five individual bioinformatic tools. With our software tool, we were able to compare the assessment scores based on 129 distinct single-, bi- and tri-assembler combinations with diverse k-mer size selections. Our results demonstrate a drastic increase in the quality of transcriptome assemblies with bi- and tri- assembler combinations. We aim for our software to improve de novo transcriptome reconstructions for the ever-growing landscape of RNA-seq data derived from non-model systems. We offer guidance to ensure the most complete transcriptomic reconstructions via the inclusion of modular multi-assembly software controlled from a single master console.