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Biomedical subjects

E Piqué

Publications and source records attributed to E Piqué.

At least 19 recordsLinked to original sources
PubMed2006

Persistent organochlorine residues in livers of six species of Ciconiiformes (aves) from Spain.

Liver samples of 42 birds belonging to 6 species of Ciconiiformes (grey heron (n = 17), little egret (n = 12), cattle egret (n = 1), glossy ibis (n = 1), little bittern (n = 1), and white stork (n = 10)), collected from two different zones of Spain (Ebro Delta and Madrid) in 1992-1997, were analyzed for organochlorine pesticides and PCBs. SigmaPCBs (sum of concentrations of individual congeners), p,p'-DDE, HCB, gamma-HCH, and heptachlor epoxide were the most prevalent residues detected in all samples (occurrence > 95%). There were no statistically significant differences in organochlorine levels between grey herons and little egrets, while levels of SigmaPCBs, p,p'-DDE, HCB, gamma-HCH, and heptachlor were significantly lower for white storks. These results could be explained by the different habitat of these species, aquatic in the Ebro Delta (grey herons, little egrets) and dry in Madrid (white stork), and their diverse feeding habits.

Animals↗
PubMed2001

Lung cancer susceptibility in relation to combined polymorphisms of microsomal epoxide hydrolase and glutathione S-transferase P1.

Human microsomal epoxide hydrolase (mEH) catalyzes a key step in the biotransformation of benzo[a]pyrene that yields the highly mutagenic (+)-anti-7,8-diol-9,10 epoxide (BPDE). Two polymorphisms have been described in the coding region of the mEH gene (EPHX1) that produce two protein variants: 113Tyr-->113His (exon 3) and 139His-->139Arg (exon 4). We performed a case-control study among Northwestern Mediterranean Caucasians to investigate a possible association between these EPHX1 variants and lung cancer risk. Both EPHX1 polymorphisms were analyzed in a group of lung cancer patients (n=176) and in a control group of healthy smokers (n=187). The results showed a significantly decreased risk for the rare homozygous 113His/113His (adjusted odds ratio (OR): 0.44, 95% confidence interval (CI): 0.27-0.71) and 139Arg/139Arg (adjusted OR: 0.55, 95% CI: 0.33-0.91) compared with the major wild-types 113Tyr/113Tyr and 139His/139His, respectively, as the references. Thereafter, we analyzed the EPHX1 variants in combination with three glutathione S-transferase polymorphic genes (GSTM1, GSTT1, and GSTP1) and we found a significant overepresentation of cancer patients with a combination of exon 3 113Tyr/113Tyr EPHX1 and exon 5 105Ile/105Ile GSTP1 (adjusted OR: 2.34, 95% CI: 1.21-4.52). The polymorphic site within the exon 5 of GSTP1 results in a Ile-->Val substitution, and the isoleucine GSTpi isoform has been found in vitro to be less active than the valine isoform towards the conjugation of BPDE. The 113 Tyr/Tyr EPHX1 encodes for a high-activity mEH. Our results agree with these observations in vitro and suggest that a genetically determined combination of a high-activity mEH and a low-activity GSTpi may increase lung cancer risk among smokers.

Adult↗
PubMed2001

The Bubi population of Equatorial Guinea characterised by HUMTH01, HUMVWA31A, HUMCSF1PO, HUMTPOX, D3S1358, D8S1179, D18S51 and D19S253 STR polymorphisms.

Allele frequencies for eight STR loci (HUMTH01, HUMVWA31A, HUMCSF1PO, HUMTPOX, D3S1358, D8S1179, D18S51, D19S253) have been analysed in the Bubi population of Bioko Island, Equatorial Guinea. For all loci, no deviation from Hardy-Weinberg equilibrium was found. Data obtained were compared with that of Caucasian and African populations. Significant differences were found for all systems between all the black populations compared and the Caucasoid population. Similarities were observed between the Bubi and Zimbabweans, and also with African American populations. Also, more affinities were observed between Zimbabweans and Ugandans and Ovambos than between these groups and the Bubi population. From these comparisons it is suggested that in Africa, as in other continents, there is a certain genetic heterogeneity.

Black People↗
PubMed2000

Population study of Aymara Amerindians for the PCR-DNA polymorphisms HUMTH01, HUMVWA31A, D3S1358, D8S1179, D18S51, D19S253, YNZ22 and HLA-DQalpha.

Allele and genotype frequencies for eight DNA polymorphisms (HUMTH01, HUMVWA31A, D3S1358, D8S1179, D18S51, D19S253, YNZ22 and HLA-DQalpha) were determined in a population sample of Aymara Indians from Bolivia using PCR. No deviations of the observed allelic frequencies from Hardy-Weinberg equilibrium were found for all the systems studied. Significant differences in the allele frequencies were found between the Aymara and Quechua populations only for HUMVWA31A, which suggests a certain degree of genetic differentiation between the two populations.

Alleles↗
PubMed1999

Haplotype frequencies of eight Y-chromosome STR loci in Barcelona (North-East Spain).

Haplotype frequencies for eight Y-chromosomal short tandem repeat (STR) loci were determined in paragraph signa population sample from Barcelona (NE Spain). After PCR amplification and denaturing PAGE electrophoresis, DYS19, DYS388, DYS389 I/II, DYS390, DYS391, DYS392 and DYS393 loci were typed. Complete eight paragraph signY-chromosomal STRs haplotypes could be formed for 223 subjects, among which 137 different haplotypes were observed. The most common haplotype was shared by 13% of the sample, while 108 haplotypes were unique. The discrimination capacity was 61.5% and the gene diversity was 0.978. From the forensic point of view the combined polymorphisms provide a high diagnostic efficiency.

Base Sequence↗
PubMed1999

Genetic polymorphism of glutathione S-transferase P1 gene and lung cancer risk.

OBJECTIVES: The human GSTTP1 gene is polymorphic with an A-->G transition in exon 5 causing a replacement 105 Ile-->Val in the GSTP1 protein. The two isoforms, encoded by the alleles GSTP1*A and GSTP1*B, respectively, show different catalytic efficiencies towards some carcinogenic epoxides. In this study we have addressed the possible role of the Ile105Val GSTP1 polymorphism in lung cancer susceptibility. METHODS: The polymorphic site was genotyped by RFLP in a group of lung cancer patients (n = 164) and in two control groups (healthy smokers, n = 132; general population, n = 200). All patients and controls were Northwestern Mediterranean Caucasians of the same ethnic origin. RESULTS AND CONCLUSIONS: The cancer patients showed frequencies of GSTP1*A/A; GSTP1*A/B and GSTP1*B/B (50%, 38%, 11%, respectively) very similar to those of both control groups (healthy smokers: 48%, 41%, 11%). After adjusting for age, sex and smoking status, no association was found between the GSTP1*B allele and lung cancer risk (OR: 1.18; 95% CI: 0.67-2.07). The Ile105val GSTP1 polymorphism was also analysed in combination with the GSTM1 and GSTT1 genes. The results showed that allelism at GSTP1 did not increase the risk associated with the GSTM1 or GSTT1 deletions.

Adult↗
PubMed1998

Catalonian population study of the tetranucleotide repeat loci D3S1358, D8S1179, D18S51 and D19S253.

Allele frequencies for four short tandem repeat loci were determined in a population sample from Catalonia (NE Spain). After denaturing PAGE electrophoresis, 8 alleles were identified for D3S1358 (n=201), 10 alleles for D8S1179 (n=198), 13 alleles for D18S51 (n=197) and 11 alleles for D19S253 (n=201). No deviation from Hardy-Weinberg equilibrium was found. Complete and relative uniformity in Caucasoid populations has been observed for D18S51 and D8S1179 respectively. Pronounced differences were found between different ethnic groups for both systems. Catalonia and Portugal do not differ for D3S1358 locus. Multiplex PCR amplifications of three loci (D3S1358, D18S51 and D19S253) without overlapping fragment size ranges could be interesting for monochrome automated laser fluorescence devices.

Alleles↗
PubMed1998

Quechua Amerindian population characterized by HLA-DQ alpha, YNZ22, 3'APO B, HUMTH01, and HUMVWA31A polymorphisms.

Allele and genotype frequencies of DNA polymorphisms were determined in a population sample of Quechua (n = 113) using the polymerase chain reaction (PCR). We report data on the frequencies of HLA-DQ alpha, YNZ22, 3'ApoB, HUMTH01 and HUMVWA31A alleles and the distribution of the different genotypes. No significant deviations between observed and expected numbers were found, thus assuming the Hardy-Weinberg equilibrium.

Bolivia↗
PubMed1997

Clear-cell porocarcinoma: another cutaneous marker of diabetes mellitus.

The relationship between clear-cell syringoma and diabetes mellitus is well established. We present a case of clear-cell porocarcinoma in a diabetic patient. The lesion consisted of a 5-cm nodule on the lateral aspect of the left leg. Histopathologically, the neoplasm was composed of irregular aggregations of neoplastic cells with striking clear-cell appearance, showing features of ductal differentiation. The clear-cell appearance of neoplastic cells was due to glycogen accumulation within their cytoplasm. Immunohistochemistry and ultrastructural studies also supported the diagnosis of a neoplasm with sweat ductal differentiation. Enzyme histochemical reactions for phosphorylase immunoreactivity on fresh, unfixed sections of the neoplasm demonstrated that this immunoreactivity was remarkably decreased. Some adnexal neoplasms of the skin mostly composed of clear cells may be cutaneous markers of diabetes mellitus. Phosphorylase activity deficiency in diabetic patients may be responsible for glycogen accumulation in neoplastic cells resulting in clear-cell appearance of these neoplasms.

Acrospiroma↗
PubMed1996

Unilateral areolar sebaceous hyperplasia in a male.

We report a case of areolar sebaceous hyperplasia involving the right mammary areola in a 49-year-old male. Areolar sebaceous hyperplasia, an uncommon entity first described by Catalano and Ioannides in 1985, is characterized clinically by yellowish thickening of the areolae and histopathologically by large numbers of mature hyperplastic sebaceous lobules connected to the skin surface through short, hairless infundibular canals. Since its original description, only two additional reports have been published. To our knowledge, our patient is the first reported of areolar sebaceous hyperplasia in a male.

Humans↗
PubMed1996

Congenital nasal comedones--report of three cases.

We report on three patients with black or white comedones arranged along the nasal groove in the distal third of the nose between the alar and triangular cartilages. This peculiar disorder is probably more common than would appear from the small number of cases so far reported in the literature.

Acne Vulgaris↗
PubMed1996

Pseudoatrophic macules: a variant of neurofibroma.

A 19-year-old man with neurofibromatosis type 1 showed a cutaneous plaque on the right scapular area with grayish coloration and atrophic appearance. Histopathologic examination demonstrated features of neurofibroma. Dermatologists should be aware of this uncommon clinical variant of neurofibroma in order to diagnose neurofibromatosis.

Adult↗