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Biomedical subjects

A Palacio

Publications and source records attributed to A Palacio.

At least 19 recordsLinked to original sources
PubMed2005

Genetic variation and population structure of an isolate of Citrus exocortis viroid (CEVd) and of the progenies of two infectious sequence variants.

The population structure and diversity within a Citrus exocortis viroid (CEVd) isolate was estimated by single strand conformation polymorphism (SSCP) and sequence analysis. A predominant sequence variant (V1) representing 52.8% of the overall population was identified. V1 and other additional variants presented a composition of the P domain characteristic of severe strains of CEVd. The nucleotide diversity of this CEVd population was lower than expected according to a model of neutral evolution, suggesting a strong negative selection. Citron plants were inoculated with dimeric clones of nine sequence variants and two resulted infectious inducing the severe symptoms characteristic of the original isolate. De novo populations were generated from these infectious variants and like in the original CEVd isolate, both populations presented V1 as the predominant variant but they evolved to a higher nucleotide diversity.

Base Sequence↗
PubMed2004

Long-term study to assess the efficacy of tamsulosin in the control of symptoms and complications developed in patients with symptomatic benign prostatic hyperplasia (OMNICONTROL study): first-year follow-up report.

OBJECTIVE: To evaluate: i. long-term efficacy of tamsulosin in the control of lower urinary tract symptoms (LUTS) suggestive of benign prostatic obstruction (BPO) using the I-PSS questionnaire, ii. the frequency of complications related to the disease, and iii. short and long-term tolerability of tamsulosin. METHODS: A total of 2.921 patients with LUTS suggestive of BPO for more than 6 months and total IPSS > 7 treated with tamsulosin (Omnic) in real life practice conditions in Spain entered an observational prospective multicentre clinical study. Efficacy was primarily assessed by changes from baseline to endpoint in I-PSS symptoms score (total, irritative and obstructive), and secondarily by the appearance of disease complications, and urinary flow measurements. Safety was assessed recording every suspected adverse reaction, blood pressure changes and laboratory data on months 6 and 12. Evolution in time of free flow and sonographical evaluation of the prostate were also obtained in 663 (22.7%) and 1346 (46.1%) cases, respectively, and the use of previous and concomitant medication was also analysed. RESULTS: After 6 and 12 months total I-PSS, irritative, and obstructive symptoms were significantly reduced with the use of tamsulosin 0,4 mg once daily. At 1 year follow-up total I-PSS score, irritative symptoms, and obstructive symptoms were reduced in 8.2, 3.5 and 4.8 points 146%, 45% and 48% improvement), respectively (p < 0.0001). The proportion of patients seriously symptomatic (total I-PSS score 20-35) was reduced from 34.8% at the start of the study to 8% at 6 months and 2.9% at 12 months. Mean QoL also significantly improved after 6 and 12 months of treatment. Average score QoL index was reduced from 4.1 to 1.86 after 12 months (2.24 points, 55% improvement) (p < 0.0001). Qmax also significantly improved after 6 and 12 months of treatment (p < 0.0001). The good tolerability profile of tamsulosin has been confirmed after 6 and 12 months of treatment. CONCLUSIONS: Therapeutic intervention with tamsulosin 0,4 mg once daily is effective in all parameters analysed (I-PSS questionnaire and flow study), very well tolerated and safe in the short-term (6 and 12 months) in patients with LUTS suggestive of BPO. Long-term data specifically regarding the decrease in prostate volume and the evolution of the BPH condition will be welcome.

Adrenergic alpha-Antagonists↗
PubMed1999

Single-strand conformation polymorphism (SSCP) analysis as a tool for viroid characterisation.

The potential of routine single-strand conformation polymorphism (SSCP) analysis for viroid characterization has been evaluated. Electrophoresis of 311 cloned full length viroid DNA inserts recovered from a field isolate of citrus exocortis viroid (CEVd) showed shifts in the migration of the cDNA or/and hDNA strands in non-denaturing 14% polyacrylamide gels. Using a single set of electrophoresis conditions seven different groups of variants (containing one to six changes), which did not represent the overall variability among clones, were identified. The relationship between the different SSCP profiles observed among clones and the variation in their nucleotide sequences was confirmed by sequence analysis. Variations in the dimensions of the gel allowed higher resolution and therefore the detection of additional single nucleotide variations among clones initially clustered into the same group. The viroid region affected by specific changes could be established by SSCP analysis of partial viroid length DNA. The potential use of SSCP analysis as a tool to screen existing viroid populations in infected hosts prior to sequencing is discussed.

Base Sequence↗
PubMed1998

Enteropathy-associated T-cell lymphoma and its immunocarcinogenic correlates: case report and review of the literature.

We report a case of enteropathy-associated T-cell lymphoma (EATL), diagnosed by small intestine and gastric biopsies, who presented with manifestations of hypocalcemia and malabsorption. Immunological assessment revealed increased expression levels of tumor necrosis factor system components and eotaxin, an observation that is consistent with the cytotoxic T-cell phenotype characteristic of EATL, and decreased numbers of circulating activated (CD8+CD38+ and CD4+CD25+) and suppressor (CD11b+) T cells, a feature which can contribute to lymphomagenesis in patients with celiac disease. The acute clinical presentation of the patient resolved with mineral and vitamin supplementation and a gluten-free diet. The novel immunological findings described are discussed in the context of a review of our current knowledge of the immunopathogenesis of celiac disease and associated intestinal neoplasia.

Adult↗
PubMed1996

[Chronic prostatitis: diagnostic and therapeutic considerations].

Chronic prostatitis, whether of bacterial or non-bacterial origin, is a pathological entity commonly considered difficult to diagnose and to manage. In an attempt to provide a better understanding of the usefulness of Stamey-Meares fractional culture as a diagnostic test, the findings obtained with this technique in 34 patients, 5 with bacterial chronic prostatitis (BCP) and 29 with non-bacterial chronic prostatitis (NBCP) were analyzed. The multiresistance found in the antibiogram in 3 cases and the lack of correlation between these findings and the seminoculture, demonstrate that this technique should continue to be considered indispensable. Also, the value that should be appointed to the existence of organisms with non-proven pathogenicity is discussed. Some bases for a rational management are proposed and the various treatment alternatives, including the use of myorelaxants which in this series allowed to achieve resolution of the symptomatology in 59% cases are analyzed.

Adult↗
PubMed1994

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.

We have analysed 972 unrelated Spanish cystic fibrosis patients for 70 known mutations. Analysis was performed on exons 1, 2, 3, 4, 5, 6a, 6b, 7, 10, 11, 12, 13, 14a, 14b, 15, 16, 17b, 18, 19, 20 and 21 of the cystic fibrosis transmembrane regulator gene using single strand conformation polymorphism analysis and denaturing gradient gel electrophoresis. The major mutation delta F508 accounts for 50.6% of CF chromosomes, whereas another 42 mutations account for 27.6% of CF chromosomes, with 21.8% of Spanish CF chromosomes remaining uncharacterized. At present, we have identified 36 mutations that have frequency of less than 1% and that are spread over 15 different exons. This indicates that, in the Spanish population, with the exception of delta F508 (50.6%) and G542X (8%), the mutations are not concentrated in a few exons of the gene nor are there any predominating mutations. This high degree of genetic heterogeneity is mainly a result of the different ethnic groups that have populated Spain and of the maintenance of separated population sets (Basques, Arab-Andalusian, Mediterranean, Canarian and Gallician). The high proportion of CF chromosomes still unidentified (21.8%) together with association analysis with intragenic markers suggest that at least 100 different mutations causing CF are present in our population.

Cystic Fibrosis↗
PubMed1994

A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.

Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR, having analysed 780 CF chromosomes, and have compared the frequency of mutations in this exon with that of other regions of the CFTR gene. The results obtained indicate an accumulation of mutations, not only in regions encoding the two nucleotide binding folds, but also in those encoding transmembrane domains of the CFTR gene, in particular exon 17b.

Cystic Fibrosis↗
PubMed1994

[Esophageal carcinosarcoma: morphologic and cytometric study].

Carcinosarcoma of the esophagus is a rare malignant neoplasm composed by both carcinomatous (epithelial) and sarcomatous (mesodermal) elements. We report a case, diagnosed by biopsy an endoscopic brushing. Cytometric analysis was also performed.

Carcinosarcoma↗
PubMed1993

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area.

We have determined the frequency of deletion delta F508 and mutation G542X, a nonsense mutation in exon 11 of the cystic fibrosis (CF) gene, in a sample of 400 Spanish CF families. Mutation G542X represents 8% of the total number of CF mutations in Spain, making it the second most common mutation after the delta F508 deletion, which accounts for 48% of CF chromosomes. G542X has a higher frequency in the Mediterranean coastal area (14%) and in the Canary Islands (25%). About 70% of G542X chromosomes are from Andalucia, Múrcia, Valencia, Catalunya and the Canary Islands. The delta F508 deletion has its highest frequency in the Basque Country (83%). Mutation G542X is associated with the same rare haplotype that is found in association with the delta F508 mutation. The haplotype homogeneity found for G542X, even when intragenic microsatellites (IVS8CA, IVS17BTA and IVS17BCA) are considered, allows us to postulate that this mutation arose from a single mutational event. The geographic distribution of mutations delta F508 and G542X suggests that delta F508 was present in the Iberian Peninsula before the Indo-European invasions, and that G542X was introduced into Spain, via the Mediterranean Sea, probably by the Phoenicians, between 2500 and 3000 years ago.

Base Sequence↗
PubMed1991

[The atrial contribution to ventricular filling in mitral stenosis. An evaluation by Doppler echocardiography].

Using Doppler echocardiography, we have quantified the atrial contribution to ventricular filling in 22 patients with mitral stenosis in sinus rhythm without or with minimal mitral and/or aortic regurgitation. With continuous wave Doppler from apex we obtained the ventricular filling flow from which the valvular area was calculated. The product of the integrated ventricular filling waves multiplying by the valvular area was called total volume (TV). Assuming that the deceleration of the ventricular filling flow is linear and remain constant, we integrated the transmitral flow, this time without considering the atrial filling wave as if the patient was entering into atrial fibrillation. Multiplying this integration by the valvular area we obtained a second volume, atrial fibrillation volume (AFV). The atrial contribution was calculated by: 1) absolute value: TV-AFV and in 2) percent value or fraction: (TV-AFV/TV) x 100. When we correlate absolute and percent values with mitral valve area, the results were statistically significant in both cases (p less than 0.001), with an excellent regression factor both with absolute value r = 0.90 and the percent one r = 0.72. In mitral stenosis the atrial contribution to ventricular filling has an inverse relation with the grade of severity, being very low in the more severe lesions. This is why it would be doubtful that its lost (atrial contribution) is the only cause of hemodynamic deterioration that has been observed in patients who suddenly present atrial fibrillation.

Adolescent↗
PubMed1989

[Study of diastolic regurgitation of the atrioventricular valves using Doppler echocardiography].

In order to evaluate diastolic regurgitant flows in atrioventricular valves, we studied by Doppler echocardiography four patients in whom electric abnormalities like third degree atrioventricular block, pacemaker dysfunction and ventricular arrhythmias with atrioventricular dissociation were detected. In all of them, mitral and tricuspid high velocity regurgitant flows were found in systole. A second regurgitant atrioventricular flow was also registered, this flow being diastolic, intermittent, and with a lower velocity profile than the systolic regurgitation. The hemodynamic importance of this diastolic regurgitant flow over the cardiac output has not been well defined; in our cases the ventricular filling was not substantially modified by diastolic regurgitant flow.

Aged↗
PubMed1979

Myotonic dystrophy associated with thyroid disease.

Two patients with hereditary, clinical, electromyographical and histological data typical of myotonic dystrophy are discussed. In both there was a thyroid disorder. The first patient had primary hypothyroidism, and the second a non-toxic multinodular goiter which necessitated total thyroidectomy. The EMG findings and the muscle histopathology of both patients are commented on and compared with the changes described in hypothyroidism. The disease processes in both patients are also discussed in relation to the muscle and metabolic changes described in myotonic dystrophy. The coexistence of these two diseases is not explicable in the light of present knowledge on the basis of a known genetic predisposition. Only two similar cases of myotonic dystrophy and hypothyroidism have been reported.

Adult↗