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Antonio León

Publications and source records attributed to Antonio León.

5 recordsLinked to original sources

Interferon receptor expression in multiple sclerosis patients.

To determine the gene expression of IFNAR1, IFNAR2 and MxA protein and the association with IFNbeta treatment response in MS patients. MS patients treated with IFNbeta had a significant decrease in IFNAR1 and IFNAR2 expression, and a significant increase in MxA compared to non-treated patients and healthy controls. Also, those patients who had a good response to treatment had a significant decrease in IFNAR1 and IFNAR2 expression compared to non-responders, non-treated patients and healthy controls. IFNbeta influences the expression of its receptors, and is greater in patients who respond to IFNbeta treatment. This down-regulation could be indicative of the response to IFNbeta.

Adult↗

Changes in pulmonary function after incidental lung irradiation for breast cancer: A prospective study.

PURPOSE: The aim of this study was to analyze changes in pulmonary function after radiation therapy (RT) for breast cancer. METHODS AND MATERIALS: A total of 39 consecutive eligible women, who underwent postoperative irradiation for breast cancer, were entered in the study. Spirometry consisting of forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1), carbon monoxide diffusing capacity (DLCO), and gammagraphic (ventilation and perfusion) pulmonary function tests (PFT) were performed before RT and 6, 12, and 36 months afterwards. Dose-volume and perfusion-weighted parameters were obtained from 3D dose planning: Percentage of lung volume receiving more than a threshold dose (Vi) and between 2 dose levels (V(i-j)). The impact of clinical and dosimetric parameters on PFT changes (Delta PFT) after RT was evaluated by Pearson correlation coefficients and stepwise lineal regression analysis. RESULTS: No significant differences on mean PFT basal values (before RT) with respect to age, smoking, or previous chemotherapy (CT) were found. All the PFT decreased at 6 to 12 months. Furthermore FVC, FEV(1), and ventilation recovered almost to their previous values, whereas DLCO and perfusion continued to decrease until 36 months (-3.3% and -6.6%, respectively). Perfusion-weighted and interval-scaled dose-volume parameters (pV(i-j)) showed better correlation with Delta PFT (only Delta perfusion reached statistically significance at 36 months). Multivariate analysis showed a significant relation between pV(10-20) and Delta perfusion at 3 years, with a multiple correlation coefficient of 0.48. There were no significant differences related to age, previous chemotherapy, concurrent tamoxifen and smoking, although a tendency toward more perfusion reduction in older and nonsmoker patients was seen. CONCLUSIONS: Changes in FVC, FEV1 and ventilation were reversible, but not the perfusion and DLCO. We have not found a conclusive mathematical predictive model, provided that the best model only explained 48% of the variability. We suggest the use of dose-perfused volume and interval-scaled parameters (i.e., pV(10-20)) for further studies.

Adult↗

Heterozygous Hb Hope [beta136(H14)Gly --> Asp] in association with heterozygous beta0-thalassemia with apparent homozygous expression, in a Spanish patient.

Hb Hope [beta136(H14)Gly --> Asp (GGT --> GAT)] has been found alone or in combination with other globin gene mutations in several African-American families, as well as in Japanese, Thai, Laotian, Cuban and Mauritanian families. We report the hematological and molecular characteristics of a heterozygous association of Hb Hope with beta0-thalassemia (thal) in a Spanish patient, in whom the level of expression of abnormal hemoglobin (Hb) by cation exchange high performance liquid chromatography (HPLC) and electrophoresis suggested initially a homozygous expression of the abnormal Hb, although sequencing of the polymerase chain reaction (PCR)-amplified beta-globin gene demonstrated a heterozygous genotype for Hb Hope. To the best of our knowledge, this is the first description of a case of Hb Hope in a Spanish family.

Adult↗

IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response.

We investigated the role of three polymorphisms in the IFNAR1 (SNPs 18417 and -408) and IFNAR2 (SNP 11876) genes in multiple sclerosis (MS) susceptibility and in the IFNbeta treatment response in a group of 147 patients and 210 controls undergoing interferon therapy during the last 2 years. Only the 18417 and the 11876 SNPs showed an association with disease susceptibility (p=0.001 and 0.035, respectively) although no differential genotype distribution were observed between interferon responders and non-responder MS patients. No alteration of the expression level of IFNAR-1 was observed with respect to the -408 genotypes or to interferon treatment response. These data suggest a role for the IFNAR pathway in susceptibility to MS.

Adolescent↗

Challenges of DNA profiling in mass disaster investigations.

In cases of mass disaster, there is often a need for managing, analyzing, and comparing large numbers of biological samples and DNA profiles. This requires the use of laboratory information management systems for large-scale sample logging and tracking, coupled with bioinformatic tools for DNA database searching according to different matching algorithms, and for the evaluation of the significance of each match by likelihood ratio calculations. There are many different interrelated factors and circumstances involved in each specific mass disaster scenario that may challenge the final DNA identification goal, such as: the number of victims, the mechanisms of body destruction, the extent of body fragmentation, the rate of DNA degradation, the body accessibility for sample collection, or the type of DNA reference samples availability. In this paper, we examine the different steps of the DNA identification analysis (DNA sampling, DNA analysis and technology, DNA database searching, and concordance and kinship analysis) reviewing the "lessons learned" and the scientific progress made in some mass disaster cases described in the scientific literature. We will put special emphasis on the valuable scientific feedback that genetic forensic community has received from the collaborative efforts of several public and private USA forensic laboratories in assisting with the more critical areas of the World Trade Center (WTC) mass fatality of September 11, 2001. The main challenges in identifying the victims of the recent South Asian Tsunami disaster, which has produced the steepest death count rise in history, will also be considered. We also present data from two recent mass fatality cases that involved Spanish victims: the Madrid terrorist attack of March 11, 2004, and the Yakolev-42 aircraft accident in Trabzon, Turkey, of May 26, 2003.

DNA Fingerprinting↗