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Biomedical subjects

E Barroso

Publications and source records attributed to E Barroso.

At least 19 recordsLinked to original sources

Estrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk: a Spanish case-control study.

Estrogens, and to a lesser extent progesterones, influence the proliferation, differentiation and physiology of breast tissue as well as the development and progression of breast cancer. Genetic variants in the steroid hormone receptor genes ESR1 and PGR (belonging to the nuclear receptor superfamily) could therefore modify sporadic breast cancer susceptibility. Two studies have shown a protective effect associated with variants in ESR1 in 2 distinct populations. We studied 4 single nucleotide polymorphisms (SNPs) in ESR1 and 4 in PGR in 550 consecutive and unrelated sporadic Spanish breast cancer patients and 564 healthy Spanish controls. We observed a dominant protective effect for the S10S variant in ESR1, with an estimated odds ratio (OR) of 0.75 (95% CI = 0.58-0.97; p = 0.03) although functional studies did not show changes in the RNA stability. A small subset of individuals carried a haplotype combination that corroborates this protection. No other SNP considered in either gene was found to be associated with sporadic breast cancer. Our results obtained in a European population confirm the protective role of the S10S variant in ESR1, previously reported in an Asian and a European-American population.

Adult↗

FANCD2 associated with sporadic breast cancer risk.

Several components of the Fanconi anaemia (FA) family of proteins allow the formation of the DNA repair complex foci formed by proteins such as BRCA1/2 and RAD51. Because the genes that participate in the DNA repair pathway have been described as low-penetrance breast cancer susceptibility genes, we postulated that variants in FA genes could also be associated with sporadic breast cancer risk. We studied seven SNPs in FANCA, FANCL and FANCD2 in a total of 897 consecutive and non-related sporadic breast cancer cases and 1033 unaffected controls from the Spanish population. We observed a statistically significant association with sporadic breast cancer for the variant rs2272125 (L1366L) located on FANCD2 (OR per allele=1.35; 95% C.I. 1.09-1.67; P=0.005). Both haplotype and diplotype analyses confirmed this association, where one haplotype and pooled diplotypes carrying it were associated with more than 4-fold risk (P=0.007 and P=0.006, respectively). Screening for potential causal variants in FANCD2 was performed, detecting one in the putative promoter region, which is located in a phylogenetically conserved motif with consensus binding sites for some transcriptional factors, suggesting a functional implication. Our data indicate that a relationship between FANCD2 and sporadic breast cancer risk may exist.

Adult↗

Polyethylene flock-associated interstitial lung disease in a Spanish female.

This case study presents a female aged 54 yrs with a 12 months history of progressive pulmonary impairment after a 7-yr period of occupational exposure to rotary-cut polyethylene. An open lung biopsy revealed the histopathology of follicular bronchiolitis that is viewed as a stereotypical feature for flock worker's lung. It seems to be the first case of plastic flock-associated interstitial lung disease reported outside North America.

Female↗

Hypertrophic osteoarthropathy in lung cancer: are the radiographic bone changes reversible after curative resection?

Lack of relief of bone and joint pains and persistence of the radiographic abnormalities in patients with secondary hypertrophic osteoarthropathy, after lung tumour removal, are considered as signs of an unfavourable prognosis. Two patients are documented in whom the lack of reversion of periosteal changes after tumour removal was compatible with a favourable long-term prognosis, suggesting that radiographic exploration is an insensitive technique to appreciate involutive bone changes occurring in these patients.

Aged↗

[The evaluation of patients with ischemic cerebral lesions by CT, SPECT and qEEG in acute, subacute and chronic phases].

INTRODUCTION: SPECT, EEG AND CT scan offer information with several pathophysiologic meanings. Their results vary with time and according to the vascular affected territory. OBJECTIVE: We wanted to study how the sensibility varies and the relationship with the clinic of SPECT, qEEG and CT scan in the acute, subacute and chronic stages and according to the vascular affected territory. We also wanted to analyze the several pathophysiologic aspects of the cerebral ischemia. METHODS: Thirty-six patients with symptoms of hemispheric stroke were evaluated with CT scan, qEEG, SPECT99mTc-HMPAO during the acute (0-5 days), subacute (0-15 days) and chronic (16 days to 1 year) stages. RESULTS: The decrease of ipsilateral CBF depend on the time (p = 0.0061), being not very frequent during the two first weeks. The qEEG was the most sensitive study in the first phase, its sensibility did not depend on the vascular affected territory and was dependent on the time (p = 0.0011), diminishing in the chronic phase. The slow activity was habitually ipsilateral. The CT scan was the less sensitive study. CONCLUSION: After 24 hours and until the second week, there is habitually an increase of the ipsilateral rCBF. The luxury perfusion could explain the fogging effect in the CT scan. The slow activity of the qEEG represents the alteration of the oxygen metabolism. The interpretation of the variation of the CBF and the qEEG allow us to define oligemia of the ischemia and between reactive hyperemia and the increase of CBF due to the necrotic tissue.

Acute Disease↗

Follicular bronchiolitis: clinical and pathologic findings in six patients.

The purpose of this study was to review our experience with patients who had a definitive diagnosis of follicular bronchiolitis (FB), and to describe in detail the clinical and pathological findings, looking for common clinical aspects that may help to identify this entity. Ours is a community 750 bed teaching hospital that acts as a tertiary referral center for several subspecialties, including thoracic surgery. Six patients with a morphological diagnosis of FB, defined by the presence of coalescent germinal centers adjacent to airways, were included. Lung biopsy was obtained by thoracotomy in all patients (2 women and 4 men, mean age 53 years). In one patient FB was associated with advanced AIDS, and in another with prolonged exposure to polyethylene-flock. In 4 patients no condition previously associated with FB was found. Five patients had a history of repeated respiratory infections, 3 patients complained of dyspnea and none had peripheral blood eosinophilia. After a mean follow-up of 25 months, 2 patients responded well to steroid therapy; 3 patients suffered symptomatic exacerbations that required an increase in the steroid dose and 1 patient was not treated with steroids. The most important contribution of this series is the description of a subset of patients with FB who were not associated with other processes. These patients present relatively homogeneous clinical and pathological pictures that do not differ greatly from secondary forms.

Adult↗