Francisco Dasí

University of Valencia | UV · Department of Physiology

Sara Pastor was not included as an author in the original publication [...]

In the 1970s, the term “rare disease” was coined to describe a category of inherited metabolic diseases with low prevalence and a wide range of symptoms [...]

Background: The study of hematic concentrations of alpha1 antitrypsin (AAT) is currently one step in the diagnosis of AAT deficiency. To try to clarify the relevance of the laboratory techniques, we carried out a systematic review of the literature. Methods: Studies evaluating the quantification of AAT in peripheral blood were searched in PubMed...

Congenital malformations are a common adverse outcome in pregnancies complicated by pregestational obesity, although the underlying mechanisms are still unrevealed. Our aim was to study the effect of oxidative stress in obesity-induced teratogenesis. Wistar rats were fed a high-fat diet for 13 weeks, with (OE group) or without (O group) vitamin E s...

Several studies have shown that some rare respiratory diseases, such as alpha-1 antitrypsin deficiency (AATD), idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF), and primary ciliary dyskinesia (PCD) present oxidative stress (OS) and endoplasmic reticulum (ER) stress. Their involvement in these pathologies and the use of antioxidants as ther...

Several studies have shown the importance of oxidative stress (OS) in respiratory disease pathogenesis. It has been reported that the nasal epithelium may act as a surrogate for the bronchial epithelium in several respiratory diseases involving OS. However, the sample yields obtained from nasal biopsies are modest, limiting the number of parameters...

Introduction Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their di...

Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing gen...

Gene therapy is an alternative therapy in many respiratory diseases with genetic origin and currently without curative treatment. After five decades of progress, many different vectors and gene editing tools for genetic engineering are now available. However, we are still a long way from achieving a safe and efficient approach to gene therapy appli...

Resumen Introducción La discinesia ciliar primaria (DCP) es una enfermedad caracterizada por una alteración en la estructura ciliar que impide el correcto aclaramiento de las secreciones respiratorias. Su diagnóstico es complejo y se basa en una combinación de técnicas. El objetivo de este estudio fue diseñar un panel de genes incluyendo todos los...

Alpha-1-antitrypsin deficiency (AATD) and primary ciliary dyskinesia (PCD) are underdiagnosed rare diseases showing a median diagnostic delay of five to ten years, which has negative effects on patient prognosis. Lack of awareness and education among healthcare professionals involved in the management of these patients have been suggested as possib...

Numerous studies over the years have shown that oxidative stress plays a major role in the development of the disease. Oxidative stress involvement in COPD opens up the possibility of using antioxidant therapies in the treatment of the disease. However, so far, these therapies have shown no clinical benefit indicating that more basic research effor...

Background: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. Methods: In this review, we summarise and update current kno...

Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis media, infertility and abnormal situs. ‘Better Experimental Approaches to Treat Primary Ciliary Dyskinesia’ (BEAT-PCD) is a network of scientists and clinicians coordinating research from basic s...

Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disease with an estimated prevalence of 1:20.000 births. It is characterized by abnormal motility of cilia, leading to impaired mucociliary clearance, and subsequent infection and chronic inflammation of the airways. PCD also affects spermatozoa and cilia in the Fallopian tubes, contr...

The antitumor response after therapeutic vaccination has a limited effect and seems to be related to the presence of T regulatory cells (Treg), which express the immunoregula­tory molecules CTLA4 and Foxp3. The blockage of CTLA4 using antibodies has shown an effective antitumor response conducing to the approval of the human anti-CTLA4 antibody ipi...

The aim of this study was to determine the relationship between the prevalence of Porphyromonas gingivalis, its fimA genotypes, Aggregatibacter actinomycetemcomitans, Tannerella forsythia, and Treponema denticola and the evolution of periodontal health. In a longitudinal prospective study, samples of subgingival plaque were taken from 114 patients...

Introduction and Objective REDAAT, the Spanish Registry of Patients with Alpha-1 Antitrypsin Deficiency, was set up in order to improve knowledge of this disease. This study is an evaluation of the registry and an analysis of its patient population. Methods The registry has a database hosted on the website www.redaat.es. It collects clinical and fu...

Background: Oxidative stress (OS) is involved in the pathophysiology of AATD (Escribano A. et al. Thorax 2015; 70:82-3). In addition, it has been shown that OS accelerates telomere shortening which is associated to higher emphysema risk in COPD patients. Rationale and aims: Since AATD is characterised by chronic OS, we hypothesise that telomere sh...

Numerous studies have shown that oxidative stress accelerates telomere shortening in several lung pathologies. Since oxidative stress is involved in the pathophysiology of α 1 -antitrypsin deficiency (AATD), we hypothesised that telomere shortening would be accelerated in AATD patients. This study aimed to assess telomere length in AATD patients an...

Introduction and objective: REDAAT, the Spanish Registry of Patients with Alpha-1 Antitrypsin Deficiency, was set up in order to improve knowledge of this disease. This study is an evaluation of the registry and an analysis of its patient population. Methods: The registry has a database hosted on the website www.redaat.es. It collects clinical a...

Objective. To determine the association between oxidative stress parameters with periodontal disease, bleeding, and the presence of different periodontal bacteria. Methods. A cross-sectional study in a sample of eighty-six patients, divided into three groups depending on their periodontal status. Thirty-three with chronic periodontitis, sixteen wit...

Background: Lung cancer is the leading cause of death by cancer worldwide. Since 5-year survival rate increases significantly when lung cancer is diagnosed at early stages, the development of accurate non-invasive biomarkers for early lung cancer diagnosis is of utmost importance. Over the last years, several tumour biomarkers based on microRNAs (m...

Background: Recent investigations in animal models have revealed oxidative stress and oxidative damage in the pathogenesis of alpha-1 antitrypsin deficiency (AATD). However, no data are available on the oxidative stress status and antioxidant enzyme activity in these patients. This study was aimed to analyse the oxidative stress profile and enzyma...

Down Syndrome is the most common chromosomal disease and is also known for its decreased incidence of solid tumors and its progeroid phenotype. Cellular and systemic oxidative stress has been considered as one of the Down Syndrome phenotype causes. We correlated, in a preliminary study, the fibroblast proliferation rate and different cell prolifera...

Thioredoxin 1, Trx1 is a key regulator of cellular redox balance and participates in cellular signaling events. Recent evidence in yeast indicates that members of the Trx family interact with the 20 S proteasome, indicating redox regulation of proteasome activity. However, there is little information about the interrelationship of Trx proteins with...

A cross-sectional study was carried out to determine the prevalence of Streptococcus mutans and Streptococcus sobrinus and the association of the two in a random sample (n=614) of the child population of the region of Valencia (Spain). Saliva samples were analyzed by the quantitative polymerase chain reaction (PCR) method to study the relation of t...

Oxidative stress is a hallmark of AD but this has not been studied in young healthy persons at risk of the disease. Carrying an Apoε4 allele is the major genetic risk factor for AD. We have observed that lymphocytes from young, healthy persons carrying at least one Apoε4 allele suffer from reductive rather, than oxidative stress, i.e., lower oxidiz...

Aims: Here we report that chromatin, the complex and dynamic eukaryotic DNA packaging structure, is able to sense cellular redox changes. Histone H3, the only nucleosomal protein that possesses cysteine(s), can be modified by glutathione (GSH). Results: Using Biotin labeled glutathione ethyl ester (BioGEE) treatment of nucleosomes in vitro, we s...

Report on Rare Diseases aimed at providing an overview of its current state and peculiarities

We characterized the oxidative stress (OS) status by the levels of reduced/oxidized glutathione (GSH/GSSG), malondialdehyde (MDA) and the mutagenic base 8-oxo-7'8-dihydro-2'-deoxyguanosine (8-oxo-dG) in human gastric carcinoma (HGC) samples and compared the results with normal tissue from the same patients. We also analyzed 8-oxo-dG in peripheral m...

Apolipoprotein E4 (ApoE4) is a major genetic risk factor for the development of Alzheimer's disease (AD). The aim of this work was to find if carrying ApoE4 alleles correlates with molecular changes associated with specific processes involved in AD pathophysiology and whether they are useful as early biomarkers of AD. Fifty four young healthy adult...

Prostate cancer (PCa) is the second most common type of cancer among men in Western societies. Once in the castrate-resistant metastatic setting therapeutic options are limited. The importance of angiogenesis in the progression of PCa has been widely reported providing a rationale to test anti-angiogenic compounds for PCa treatment in clinical tria...

Glutathione (GSH) is a linchpin of cellular defences in plants and animals with physiologically-important roles in the protection of cells from biotic and abiotic stresses. Moreover, glutathione participates in numerous metabolic and cell signalling processes including protein synthesis and amino acid transport, DNA repair and the control of cell d...

Apolipoprotein E4 (ApoE4) is a major genetic risk factor for the development of Alzheimer's disease (AD). The aim of this work was to find if carrying ApoE4 alleles correlates with molecular changes associated with specific processes involved in AD pathophysiology and whether they are useful as early biomarkers of AD. Fifty four young healthy adult...

Background Serum prostate-specific antigen (PSA) is the most widely used marker for diagnosing prostate cancer (PCa). It lacks specificity and predictive value, resulting in inaccurate diagnoses and overtreatment of the disease. The aim of this study was to assess the usefulness of plasma telomerase reverse transcriptase (hTERT) mRNA as a diagnosti...

Since the introduction of prostate-specific antigen (PSA) testing, new prostate cancer (PCa) patients are diagnosed earlier and most have localized and locally advanced disease. Current diagnosis methods lack specificity and sensitivity, leading to overdiagnosis and overtreatment of patients with low-risk organ-confined localized disease. Therefore...

Objectives: The aim of this study was to determine the prevalence of the different fimA genotypes of Porphyromonas gingivalis in adult Spanish patients with chronic periodontitis, patients with gingivitis and periodontally healthy subjects, and the relationship between these genotypes and other periodontopathogenic bacteria. Study design: Samples o...

Background The purpose of this study was (a) to evaluate the association between cigarette smoking and the prevalence of distal colorectal polyps and adenocarcinoma and (b) to analyse genetic alterations representing different molecular pathways of the colorectal carcinogenesis. Methods A total of 623 asymptomatic male (mean age: 53 years; 50–65) c...

Frataxin levels determined in FRDA and control cells. Mean (±SD) mRNA levels of frataxin in FRDA (FRDA1, FRDA2, and FRDA3) and control cells (Control1, Control2, Control3) analyzed by triplicate. Results show lower frataxin levels in FRDA than in control fibroblasts. (TIF)

Experimental values obtained for superoxide and mRNA levels for distinct antioxidant enzymes. Table shows all experimental data as Mean (±SD) obtained for superoxide quantification; mRNA levels for FXN, SOD1, SOD2, CAT and GPX1 genes determined by RT-PCR. (DOCX)

Experimental values obtained for antioxidant enzymatic activities. Table shows all experimental data as Mean (±SD) obtained for CuZnSOD, MnSOD, catalase and total glutathione peroxidase activity. (DOCX)

Experimental values obtained for Cytochrome C and ATP quantification. Table shows all experimental data as Mean (±SD) obtained for Cytochrome C levels quantified using immunofluorescence and ATP levels quantified using the luciferase assay. (DOCX)

Friedreich's ataxia (FRDA) is a mitochondrial rare disease, which molecular origin is associated with defect in the expression of frataxin. The pathological consequences are degeneration of nervous system structures and cardiomyopathy with necrosis and fibrosis, among others. Using FRDA fibroblasts we have characterized the oxidative stress status...

The main reason for conducting a clinical trial (CT) is to test the effect of a drug or medical procedure to improve treatment of a disease. CTs contribute most when they are rigorously conducted and the results are published adequately. The aim of this study is to assess, using the CONSORT statement guidelines, the quality of reporting of complete...

Malignant gliomas are the most common subtype of primary central nervous system (CNS) tumors. Their pathological classification, however, remains subjective, stimulating researchers to actively seek objective molecular markers to discover alternative and more reproducible tools for improved subtypification. Herein, we present a global survey of gen...

Cardiac catheterization data of patients with and without major adverse cardiac events

Cardiac catheterization data of the whole study group and of patients with and without large infarction

Hydrodynamic injection has demonstrated to be very efficient in the liver of small animals, although this procedure must be translated to the clinical practice in a milder but no less efficient way. The present study evaluates the capacity of non-invasive interventional catheterization as a procedure for naked DNA delivery to the heart in large ani...

The evolution of white blood cells after ST elevation myocardial infarction (STEMI) and their association with infarct size and major adverse cardiac events (MACE) remains unclear. Two hundred eleven patients underwent CMR after STEMI. Infarct mass (grams) was determined. Neutrophil, lymphocyte, and monocyte counts (×1,000 cells/ml) were measured u...

Oxidative stress is considered a potential etiological factor for Crohn's disease (CD). We characterized the reactive oxygen species (ROS) generated in immune peripheral cells of CD patients, as well as their antioxidant enzyme status and the presence of oxidative damage. In addition, mitochondrial function (DeltaPsim) was analyzed to detect the po...