136 research outputs found
Forest edge herbaceous vegetation (Trifolio-Geranietea) of northern Spain
A survey of the vegetation of forest (and hedge) fringes, classified within the Trifolio-Geranietea, in the Basque Country and the western and central Pyrenees (northern Spain) is presented. Three plant associations can be distinguished: the Centaureo nemoralis-Origanetum vulgaris, the Agrimonio-Trifolietum medii (both on limerich substrates) and the Hyperico androsaemi-Teucrietum scorodoniae (typical of siliceous soils). The Centaureo nemoralis-Origanetum vulgaris has already been known from the Atlantic zone of France. The Agrimonio-Trifolietum medii was described for Central Europe and it was also found to be widespread in the Pyrenees. The Hyperico androsaemi-Teucrietum scorodoniae is a new syntaxon (described in this paper) and occurs in coastal regions of the Atlantic Basque Country (Santanderino-Vizcaino Subsector)
Tumour prothymosin alpha content, a potential prognostic marker for primary breast cancer
In a previous report we suggested that the estimation of prothymosin α (PTA) levels in primary breast tumours might be used to identify breast cancer patients at high risk for distant metastasis (Dominguez F et al (1993) Eur J Cancer29A: 893–897). Here the role of tumour PTA levels as predictor was investigated with respect to both disease-free survival (DFS) and survival. Tumours were obtained from a series of 210 consecutive female patients with ductal carcinoma who underwent surgery at the Hospital Xeral de Galicia (Santiago de Compostela, Spain). Characteristics including PTA tumour levels, number of positive axillary nodes, patient's age at surgery and tumour histological grade were significantly associated with DFS and survival, as determined by univariate analysis. Patients with tumours with low or moderate PTA levels demonstrated a statistically decreased rate of tumour recurrence and a statistically significant increased overall survival in comparison with those whose tumours had high PTA levels. Patient's relative risk of dying was 2.1 times greater for tumours with high PTA levels than for those tumours with low or moderate PTA levels. In conclusion, these data support the hypothesis that tumour high PTA levels is associated with a worse outcome. © 2000 Cancer Research Campaig
Functional consequences of seven novel mutations in the CYP11B1 Gene: four mutations associated with nonclassic and three mutations causing classic 11 -Hydroxylase Deficiency
Context: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency.
Objective: The aim of the study was to analyze the functional consequences of seven novel CYP11B1 mutations (p.M88I, p.W116G, p.P159L, p.A165D, p.K254_A259del, p.R366C, p.T401A) found in three patients with classic 11OHD, two patients with nonclassic 11OHD, and three heterozygous carriers for CYP11B1 mutations.
Methods: We conducted functional studies employing a COS7 cell in vitro expression system comparing wild-type (WT) and mutant CYP11B1 activity. Mutants were examined in a computational three-dimensional model of the CYP11B1 protein.
Results: All mutations (p.W116G, p.A165D, p.K254_A259del) found in patients with classic 11OHD have absent or very little 11β-hydroxylase activity relative to WT. The mutations detected in patients with nonclassic 11OHD showed partial functional impairment, with one patient being homozygous (p.P159L; 25% of WT) and the other patient compound heterozygous for a novel mild p.M88I (40% of WT) and the known severe p.R383Q mutation. The two mutations detected in heterozygous carriers (p.R366C, p.T401A) also reduced CYP11B1 activity by 23 to 37%, respectively.
Conclusion: Functional analysis results allow for the classification of novel CYP11B1 mutations as causative for classic and nonclassic 11OHD, respectively. Four partially inactivating mutations are predicted to result in nonclassic 11OHD. These findings double the number of mild CYP11B1 mutations previously described as associated with mild 11OHD. Our data are important to predict phenotypic expression and provide important information for clinical and genetic counseling i
Annual dune plant communities in the Southwest coast of Europe
This study presents an updated sintaxonomic review of the annual communities from coastal dunes in the Southwest coast of
Europe, specifically in the Iberian Peninsula, including both types: directly influenced by the sea salt spray and not affected
by this influence. The floristic segregation of the different plant associations was obtained by statistical agglomerative
processes (UPGMA, Unweighted Pair Group Method with Arithmetic Mean) plus principal coordinate analysis (PCoA) and
discussed based on the interpretation of phytosociological tables. Three new communities in central western Portugal were
found and are described: Pseudorlayo minusculae-Polycarpietum alsinifoli, Cerastio diffusae-Vulpietum fontqueranae and
Omphalodo kunzinskyanae-Evacietum ramosissimae
CYP1A1, mEH, and GSTM1 Polymophisms and Risk of Oral and Pharyngeal Cancer: A Spanish Case-Control Study
Background. Genetic polymorphisms of drug metabolizing enzymes involved in the detoxification pathways of carcinogenic substances may influence cancer risk. Methods. Case-control study that investigates the relationship between CYP1A1 Ile/Val, exon 4 mEH, and GSTM1 null genetic polymorphism and the risk of oral and pharyngeal cancer examining the interaction between these genes, tobacco, and alcohol. 92 incident cases and 130 consecutive hospital-based controls have been included. Results. No significant associations were found for any of the genotypes assessed. The estimated risk was slightly elevated in subjects with the wild type of the mEH gene and the null GSTM1 genotype. For exon 4 mEH heterozygous polymorphism, the risk was slightly lower for heavy smokers than for light smokers. The inverse association was observed for the GSTM1 null genotype. Conclusions. The results suggest that exon 4 mEH and GSTM1 null polymorphisms might influence oral and pharyngeal cancer
A global view on the riparian forests with Salix neotricha and Populus alba in the Iberian Peninsula (Portugal and Spain)
Forests dominated by Salix neotricha, and Populus alba found along the mesoeutrophic rivers in the Iberian Peninsula, were
studied. We discuss the floristic circumscription, chorology, and community segregation based on the available releve´s of all
Iberian riparian communities included in Populenion albae. Eleven formerly described communities were analyzed and due to
original floristic combination, habitat features, and biogeographic scope, a new willow and poplar forest type is proposed
within a well-defined biogeographical unit (Sadensean-Dividing Portuguese Subprovince): Clematido campaniflorae-
Salicetum neotrichae. This syntaxon is found under a semi-hyperoceanic thermomediterranean to lower mesomediterranean,
subhumid to humid bioclimate. Cluster analysis including all Iberian communities of Populenion albae shows a clear floristic
segregation within the suballiance and confirms the originality of the new association. Furthermore, chemical characteristics
of the water along some of the Portuguese watercourses with Populenion albae were studied and compared to the oligotrophic
rivers occupied by Osmundo-Alnion communities. This study suggests that floristic separation between the communities of
Populenion and Osmundo-Alnion is accompanied by a differentiation of the water trophic level
High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency
BACKGROUND: The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs). Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most common autosomal recessive disorder with a carrier frequency of 1:25 to 1:10. The gene that encodes 21-hydroxylase enzyme, CYP21A2, is considered to be one of the most polymorphic human genes. Copy number variations, such as deletions, which are severe mutations common in 21OHD patients, or gene duplications, which have been reported as rare events, have also been described. The correct characterization of 21OHD alleles is important for disease carrier detection and genetic counselling METHODOLOGY AND FINDINGS: CYP21A2 genotyping by sequencing has been performed in a random sample of the Spanish population, where 144 individuals recruited from university students and employees of the hospital were studied. The frequency of CYP21A2 mutated alleles in our sample was 15.3% (77.3% were mild mutations, 9% were severe mutations and 13.6% were novel variants). Gene dosage assessment was also performed when CYP21A2 gene duplication was suspected. This analysis showed that 7% of individuals bore a chromosome with a duplicated CYP21A2 gene, where one of the copies was mutated. CONCLUSIONS: As far as we know, the present study has shown the highest frequency of 21OHD carriers reported by a genotyping analysis. In addition, a high frequency of alleles with CYP21A2 duplications, which could be misinterpreted as 21OHD alleles, was found. Moreover, a high frequency of novel genetic variations with an unknown effect on 21-hydroxylase activity was also found. The high frequency of gene duplications, as well as novel variations, should be considered since they have an important involvement in carrier testing and genetic counseling
Risk factors associated with moderate-to-severe renal dysfunction among heart transplant patients: results from the CAPRI study
[Abstract] The longer survival of patients with heart transplantation (HT) favors calcineurin inhibitor–related chronic kidney disease (CKD). It behoves to identify risk factors. At 14 Spanish centers, data on 1062 adult patients with HT (age 59.2 ± 12.3 yr, 82.5% men) were collected at routine follow-up examinations. Glomerular filtration rate, GFR, was estimated using the four-variable MDRD equation, and moderate-or-severe renal dysfunction (MSRD) was defined as K/DOQI stage 3 CKD or worse. Time since transplant ranged from one month to 22 yr (mean 6.7 yr). At assessment, 26.6% of patients were diabetic and 63.9% hypertensive; 53.9% were taking cyclosporine and 33.1% tacrolimus; and 61.4% had MSRD. Among patients on cyclosporine or tacrolimus at assessment, multivariate logistic regression identified male sex (OR 0.44), pre- and post-HT creatinine (2.73 and 3.13 per mg/dL), age at transplant (1.06 per yr), time since transplant (1.05 per yr), and tacrolimus (0.65) as independent positive or negative predictors of MSRD. It is concluded that female sex, pre- and one-month post-HT serum creatinine, age at transplant, time since transplant, and immunosuppression with cyclosporine rather than tacrolimus may all be risk factors for development of CKD ≥ stage 3 by patients with HT
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