Impact and influence of "omics" technology on hyper tension studies.

Background: Hypertension is an important risk factor for cardiovascular diseases. Pathophysiology and molecular mechanisms involved in hypertension regulation are not very well known. Recently, high-throughput Next-Generation Sequencing (NGS) technology has identified hundreds of gene loci associated with multiple cardiovascular pathologies, including blood pressure (BP), generating new expectations in hypertension studies, revealing new pathways and genetic mechanisms underlying BP regulation.

Insights into RNA transcriptome profiling of cardiac tissue in obesity and hypertension conditions.

Several epidemiologic studies suggest that obesity and hypertension are associated with cardiac transcriptome modifications that could be further associated with inflammatory processes and cardiac hypertrophy. In this field, transcriptome studies have demonstrated their importance to elucidate physiologic mechanisms, pathways or genes involved in many biologic processes. Over the past decade, RNA microarray and RNA-seq analysis has become an essential component to examine metabolic pathways in terms of mRNA expression in cardiology.

Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.

The multiple endocrine neoplasia type 2A (MEN2A) is a monogenic disorder characterized by an autosomal dominant pattern of inheritance which is characterized by high risk of medullary thyroid carcinoma in all mutation carriers. Although this disorder is classified as a rare disease, the patients affected have a low life quality and a very expensive and continuous treatment. At present, MEN2A is diagnosed by gene sequencing after birth, thus trying to start an early treatment and by reduction of morbidity and mortality.

Olive oil polyphenols decrease blood pressure and improve endothelial function in young women with mild hypertension.

Background: Olive oil polyphenols have been associated with several cardiovascular health benefits. This study aims to examine the influence of a polyphenol-rich olive oil on blood pressure (BP) and endothelial function in 24 young women with high-normal BP or stage 1 essential hypertension.

Methods: We conducted a double-blind, randomized, crossover dietary-intervention study.

Which parameter is better to define endothelial dysfunction in a test of postocclusive hyperemia measured by laser-Doppler flowmetry?

Background And Objective: Endothelial function can be measured by the level of reactive vasodilation due to a transient ischemia caused by a blood pressure cuff on the arm, measured using Laser-Doppler flowmetry. This device has software that provides various parameters that can measure the magnitude of this response, but there are no general agreements with regard to which of them is the best to use. In this study, we analyze which of the parameters obtained using this technique is better to discriminate between patients with coronary artery disease (CAD) and healthy controls.

Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease.

Background: It is debatable whether the size of triplet repeats of the fragile X mental retardation genes FMR1 and FMR2 (found at the FRAXA and FRAXE loci) is associated with Parkinson's disease (PD). The aims of the current study were to investigate the relationship between these genes and PD and to determine whether these genes affected clinical manifestations of PD.

Methods: We recruited 206 PD patients and 227 control subjects from southern Spain.

Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).

Objective: We aimed to study clinical, radiological and molecular genetic features of patients with cerebral cavernous malformations (CCMs) from the Iberian Peninsula.

Methods: We screened Krit1(CCM1), MGC4607(CCM2), and PDCD10(CCM3) by systematic SSCP and direct sequencing of coding exons in 48 nuclear families and 30 sporadic cases of CCM from Spain and Portugal.

Results: Screening of CCM patients detected nine different mutations in 19 families.

A study of promoter and intronic markers of ApoI/Fas gene and the interaction with Fas ligand in relapsing multiple sclerosis.

We studied the association between multiple sclerosis (MS) and a novel single nucleotide polymorphism (SNP), A/T(735)G/C, localized in intron IV of the ApoI/Fas gene, which is recognized by the restrictase MaeI. Fas-MaeI genotypes were screened in chromosomes of 215 healthy individuals and 312 relapsing MS patients of Spanish extraction. We also analyzed the interaction of this new intragenic marker with others previously associated with MS: class II HLA-DRB1*1501, Fas-MvaI and Fas ligand.