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Biomedical subjects

A Ibañez

Publications and source records attributed to A Ibañez.

16 recordsLinked to original sources
PubMed2006

Association of mannose-binding lectin gene polymorphisms with antiphospholipid syndrome, cardiovascular disease and chronic damage in patients with systemic lupus erythematosus.

OBJECTIVE: To investigate the association of mannose-binding lectin (MBL)-deficient genotypes with cardiovascular disease in a large series of patients with systemic lupus erythematosus (SLE). METHODS: A total of 114 patients diagnosed with SLE were included in the study. MBL polymorphisms were investigated by sequencing-based DNA typing of the promoter and exon 1 of the MBL2 gene. The genotypes 0/0, 0/XA and XA/XA were considered as MBL-low genotypes. RESULTS: A higher prevalence of cardiovascular disease was observed in patients carrying MBL-low genotypes compared with those carrying MBL-high genotypes [30 vs 9%, P = 0.012, odds ratio (OR) 4.54, 95% confidence interval (CI) 1.20-16.46]. Patients with MBL-low genotypes also presented higher mean values for total cholesterol (228.6 vs 202.3 mg/dl, P = 0.017) and low-density lipoprotein (LDL) cholesterol (139.9 vs 121.9 mg/dl, P = 0.045), a higher frequency of chronic renal failure (30 vs 4%, P = 0.001), vasculitis (30 vs 11%, P = 0.043), heart valve lesions (71 vs 32%, P = 0.026), cardiac valve dysfunction (57 vs 7%, P = 0.0004) and associated APS (39 vs 12%, P = 0.005), a higher mean Systemic Lupus International Collaborating Clinics score (2.09 vs 1.26, P = 0.029) and a lower prevalence of low C4 levels (43 vs 71%, P = 0.015). Multivariate analysis of genetic, clinical and immunological variables showed that only antiphospholipid syndrome (APS) was independently associated with cardiovascular events (P = 0.001). CONCLUSION: Although the prevalence of cardiovascular disease in our SLE patients carrying MBL-deficient genotypes was 3.3 times higher than in patients with non-deficient genotypes, only APS was independently associated with cardiovascular events. This suggests that the higher frequency of thrombotic events in SLE patients carrying MBL-deficient genotypes might be related to coexisting APS.

Adolescent↗
PubMed2004

Effect of the fluid in the inclusions of cement paste on the ultrasonic velocity.

The durability of cement composites significantly depends on the movement of the fluids into the material through the porous system. The aqueous phase contained in the pores can cause irreversible damage from the dimensional stability viewpoint. In this sense, methods for non-destructive characterization of both, the porous structure and water content should be investigated. In this work, the effect of the fluid in the inclusions of the cement paste on the ultrasonic velocity is studied. Firstly, a theoretical analysis based on the micromechanical model, considering the microstructural information of the matrix and the fluid filling the pores, is presented. Some experimental work is made later using cement paste samples, whose porous structure is maintained dry or saturate with water. In both cases, the ultrasonic velocity is measured and compared to the one predicted by the micromechanical model. Using this technique, the ultrasonic velocity can be predicted with errors below 2% in the cases of dry or water saturated cement paste.

Journal Article↗
PubMed2001

Glucose biochip: dual analyte response in connection to two pre-column enzymatic reactions.

This article describes a novel 'Lab-on-a-Chip' protocol generating two electrophoretic peaks for a single analyte, based on the coupling of two different pre-column enzymatic reactions of the same substrate followed by electrophoretic separation of the reaction products. Such operation is illustrated for the measurement of glucose in connection to the corresponding glucose oxidase (GOx) and glucose dehydrogenase (GDH) reactions. The pre-column enzymatic reactions generate hydrogen peroxide and NADH species, that are separated (based on their different charges) and detected at the end-column amperometric detector. The peak current ratio can be used for confirming the peak identity, estimating the peak purity, addressing co-migrating interferences, and deviations from linearity. A driving voltage of 2000 V results in peroxide and NADH migration times of 93 and 260 s, respectively. Factors influencing the unique dual glucose response are examined and optimized. The concept can be extended to different target analytes based on the coupling of two pre-column reactions with electrophoretic separation of the reaction products.

Electrophoresis, Capillary↗
PubMed2000

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.

We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome 6q (q22qter). Fluorescent in situ hybridization analysis demonstrated a deletion of the subtelomeric region of 6q. This illustrates the use of specific subtelomeric fluorescent in situ hybridization probes to detect cryptic deletions as an important cause of mental retardation in seemingly balanced chromosome rearrangements.

Chromosome Deletion↗
PubMed2000

Pathological gambling and DNA polymorphic markers at MAO-A and MAO-B genes.

This study was conducted to detect a possible association of MAOA and/or MAOB genes with pathological gambling (PG). DNA polymorphisms in MAOA and MAOB genes were screened by molecular analysis in 68 individuals (47 males and 21 females) meeting ICD-10 and DSM-IV criteria for pathological gambling and 68 healthy comparison controls matched for age and sex. There were no significant differences between pathological gamblers and healthy volunteers in overall allele distribution at the MAOA gene polymorphism. However there was a significant association between allele distribution and the subgroup of severe male gamblers (n = 31) compared to the males in the group of healthy volunteers (chi2 = 5246; df = 1; P < 0.05 [Bonferroni corrected]). No association was found between the MAOB polymorphic marker and PG. Allele variants at the MAOA, but not the MAOB gene may be a genetic liability factor in PG, at least in severe male gamblers. Molecular Psychiatry(2000) 5, 105-109.

Adult↗
PubMed2000

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.

A Spanish family affected with autosomal dominant retinitis pigmentosa (ADRP) with a diffuse phenotype showed a mutation in the rhodopsin gene. The mutation was the transition T-->C in codon 186, which has been reported once before in an American patient (Dryja et al., Proc Natl Acad Sci USA 1991;88:9370-9374). This change replaces a serine by a proline in the second intradiscal loop of the protein, generating a molecule that is probably folding- and transport-defective.

Adult↗
PubMed1994

Sleep disorders in bipolar depression: hypnotics vs sedative antidepressants.

Ninety-six patients with bipolar disorder who attended a lithium clinic were reviewed in a retrospective study. Sleep disorders were studied in 85 depressive episodes. Eighty-one percent of the subjects presented with insomnia; the mixed type being the most frequent (49%) followed by early awakening (25%). The evolution of depression in the patients was compared according to the treatment received for insomnia: sedative antidepressants vs other anxiolytic or hypnotic drugs. Fifteen percent of patients shifted to mania, this group more frequently receiving sedative antidepressants (p < 0.05). Moreover, the patients who had received sedative antidepressants as therapy for insomnia (N = 61) showed a tendency to have a shorter asymptomatic interval before the following relapse (13 months vs 19 months; p = 0.06). In view of these results, we consider that the use of sedative antidepressants as a treatment for insomnia during depressive episodes in bipolar patients could be a factor contributing to worse prognoses; in these cases it appears that the use of other hypnotic drugs would be more advisable.

Adult↗
PubMed1993

[Diastolic intraventricular gradient detected with Doppler echocardiography in hypertrophic cardiomyopathy. Report of a case].

It has recently been reported the rare existence of intraventricular diastolic gradients in patients with hypertrophic cardiomyopathy. This proves the great disturbance of diastolic function that exists in these patients. We report the case of a patient with this disease, in whom a significant diastolic intraventricular gradient was detected with color Doppler echocardiography. In the end we make a summing up of its most probable physiopathology.

Aged↗
PubMed1980

Progressive bulbar paralysis associated with neural deafness. A nosological entity.

A complete autopsy verification of progressive bulbar palsy associated with neural deafness was performed. Hearing loss and speech difficulties developed in a five-year-old girl. When she was 24 years old, clinical examination demonstrated deafness and bulbopontine paralysis together with retinitis pigmentosa, peripheral amyotrophies, pyramidal signs, and ataxia. The patients died at 27 years and the autopsy disclosed degenerative changes characterized by simple atrophy and loss of neurons accompanied by gliosis and loss of myelinated fibers. The structures principally affected were the anterior horns and the motor nuclei of the brain stem together with the eighth cranial nerve nuclei. Loss of myelinated fibers was found in the spinocerebellar and pyramidal tracts and in the fasciculus gracilis. Our study suggests that progressive bulbar paralysis with neural deafness should be considered as a nosological entity.

Adolescent↗