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Biomedical subjects

A Barroso

Publications and source records attributed to A Barroso.

At least 19 recordsLinked to original sources
PubMed2004

[Functional ability and social-care problems of the elderly in the Cáceres health area].

OBJECTIVE: To describe the social environment and to identify the health problems and the functional and mental ability of the elderly in the community. DESIGN: Cross-sectional, observational study by means of a questionnaire. PATIENTS: 228 people over 71 and not living in an institution. SETTING: Cáceres Health Area. MAIN MEASUREMENTS: Questionnaire on social and demographic details, main pathologies, social assessment (Gijón scale), functional assessment (Barthel and Lawton-Brody scales), mental assessment (Pfeiffer test), geriatric problems and visits from health professionals. RESULTS: 67% of the 228 people in the sample were women, with an average age of 79. Comorbidity, present in over 70% of the elderly, was significantly related to multi-medication, falls, hospital admission, depression and insomnia. The most common social and family situation was of a person living with his/her partner (38.3%; CI, 6.31) or children, in a dwelling with architectural barriers (43.0%; CI, 6.43), with a good relationship to his/her social surroundings (61.0%; CI, 6.33). The Barthel test showed a significant relationship with all the geriatric problems declared. The Pfeiffer test showed a relationship with falls (t=3.10; P=.00214), with hearing problems (t=1.98; P=.048), with incontinence (t=3.59; P=.0040) and constipation (t=2.64; P=.0086). The Lawton-Brody test was related, in women, with falls (t=4.27; P=.00034), admissions (t=2.02; P=.044), constipation and sight and hearing problems; and in men, with depression and incontinence. CONCLUSIONS: Elderly people in the Cáceres Health Area showed good functional ability in their basic daily tasks, less ability in instrumental activities and high comorbidity.

Activities of Daily Living↗
PubMed2001

A prospective study of gemcitabine and carboplatin as first-line therapy in advanced non-small cell lung cancer: toxicity of a three- versus a four-week schedule.

We evaluated the toxicity and activity of gemcitabine (Gemzar; Eli Lilly and Company, Indianapolis, IN) and carboplatin on a 3-week (trial A) versus a 4-week (trial B) schedule in patients with advanced/metastatic non-small cell lung cancer. Chemotherapy-naive patients in trial A received gemcitabine 1,000 mg/m(2) on days 1 and 8 plus carboplatin area under the curve of 5 on day 1, every 3 weeks. In trial B, patients received gemcitabine 1,000 mg/m(2) on days 1, 8, and 15 and carboplatin area under the curve of 6 on day 1, every 4 weeks. Thirty patients were enrolled in trial A and 28 in trial B. Patients received a total of 142 cycles in trial A and 134 in trial B. Despite more frequent treatment delays (82 cycles in trial B and 20 cycles in trial A), and dose reductions/omissions (mainly on day 15), gemcitabine mean dose intensities of both schedules were similar. The principal dose-limiting toxicity was grade 3/4 thrombocytopenia. Objective response rates were 40% in trial A and 68% in trial B (no complete response). Gemcitabine and carboplatin administered on days 1 and 8 every 3 weeks is associated with lower myelotoxicity than that of a 4-week schedule, although both schedules were active against non-small cell lung cancer. Semin Oncol 28 (suppl 10):10-14.

Adult↗
PubMed2000

Primary lymphoepithelioma-like carcinoma of the lung.

Lymphoepithelioma is an undifferentiated carcinoma with prominent lymphoid stroma in the nasopharynx. Tumors with similar histology have been reported with other localizations, including the lungs, and are designated as lymphoepithelioma-like carcinomas (LELC). Primary LELC of the lung is very rare, and scant information is available in the scientific literature. This paper details the case of a 25-year-old Caucasian male patient with the diagnosis (determined by thoracotomy) of primary LELC of the lung. Immunohistochemical analysis was negative for Epstein-Barr virus, as was the in situ hybridization of the tumor cells. Observation of the nasopharynx and a magnetic resonance image of the cavum were normal. Because the tumor (T4N2M0) could not be resected, the patient was treated with chemotherapy, carboplatin/5-fluorouracil, completing two cycles. The patient's condition worsened when he developed contralateral pneumonia, which was then followed by pericardial effusion. The patient died 36 h later from cardiac tamponade. Presented here is a revision of this rare pathology, not often reported in the literature.

Adult↗
PubMed2000

Secular trend and intrapopulational variation in age at menopause in Spanish women.

Menopause is associated with the general ageing process and marks the end of follicular depletion, a process that begins in the intrauterine stage and lasts throughout the lifetime of women until their reproductive senescence. Controversy persists about whether the age at menopause is sensitive to the ecological determinants prevailing during the lifecycle or whether it has a predominantly genetic component that would allow groups of women to be characterized with respect to particular menstrual characteristics manifested throughout their fertile life. By contrast, there is a definite secular trend in age at menarche in populations that have registered improvements in their environment: sexual maturation is closely associated with the general processes of growth and development. These aspects were analysed in a sample of Spanish women, mothers and daughters, born between 1883 and 1941. The results show (a) indications--although not conclusive--of a secular trend in the age at menopause, (b) a possible association between the age at menopause of mothers and their daughters, and (c) an association at the individual level between age at menarche, particular characteristics of ovarian function (fetal loss) and age at menopause. The reproductive ageing process therefore seems to result from the expression of the influence of ecological conditions in which the lifecycle of the women develops and of a degree of heritability that affects not only the age at menopause but also a range of characteristics of ovarian function.

Age Factors↗
PubMed2000

Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.

It is estimated that about 5-10% of breast cancer cases may be due to inherited predisposition. Until now, two main susceptibility genes have been identified: BRCA1 and BRCA2. The first linkage and mutational studies suggested that mutations in these two genes would account for the majority of high-risk breast cancer families, but recent studies show how the proportion of families due to BRCA1 or BRCA2 mutations strongly depends on the population and the types of family analyzed. It is now clear that, in the context of families with a modest cancer profile, which are the most commonly found in the clinical practice, the percentage of mutations found is much lower than that suggested by the first studies. In the present study, we analyze a group of 32 Spanish families, which contained at least three cases of female breast cancer (at least one of them diagnosed before the age of 50 years), for the presence of mutations in the BRCA genes. The total proportion of mutations was low (25%), although the percentage of mutations in the BRCA1 and BRCA2 genes was higher, considering the breast and ovarian cancer families and the male breast cancer families respectively. Our results are in agreement with the idea that a great proportion of moderate-risk cancer families could be due to low penetrance susceptibility genes distinct from BRCA1 or BRCA2.

Adult↗
PubMed2000

Relationship between dysplasia, p53 protein accumulation, DNA ploidy, and Glut1 overexpression in Barrett metaplasia.

BACKGROUND: There is a need for molecular markers of malignant progression in Barrett metaplasia (BM). The aim of this study is to determine the relationship between dysplasia, p53 protein accumulation, DNA ploidy, and Glut1 in BM. METHODS: Sections of esophageal biopsy specimens from 120 patients with BM were evaluated for dysplasia, p53 protein, and Glut1 expression by immunohistochemistry, and DNA ploidy by Feulgen stain and image analysis. In cases with diploid DNA histograms, the percentage cells in the G0G1 and G2M phases of the cell cycle were determined. RESULTS: Of 108 diploid cases 19 (28%) of 69 cases with G0G1 > or = 90% or G2M > or = 8.33% were p53-positive, in contrast to only 1 (3%) of 39 cases with lower G0G1 or G2M (P = 0.0008). Of 32 p53-positive cases 11 (32%) were aneuploid, in contrast to none (0%) of 88 p53-negative cases (P < 0.0001). Ten (91%) of 11 aneuploid cases were high-grade dysplasial adenocarcinoma (HGD/CA), compared with only 1 (1%) of 109 diploid cases (P < 0.0001). Five (45%) of 11 cases with HGD/CA were Glut1-positive, in contrast to none (0%) of 109 cases without HGD/CA (P < 0.0001). CONCLUSIONS: Our data strongly suggest that in BM, after oxidative DNA damage, as a result of gastroesophageal reflux, there is an increase in the percentage of cells in the G0G1 or G2M phases of the cell cycle to enable repair of damaged DNA; in some of these cases this is followed sequentially by p53 gene mutation and protein accumulation, DNA aneuploidy, HGD, and CA with or without Glut1 overexpression. These events can be detected in routinely processed biopsy samples.

Adenocarcinoma↗
PubMed1999

[The consumption of drugs and natural remedies in the older population of a rural area].

OBJECTIVES: To evaluate the knowledge about medical treatment on people with more than 70 years old, specifically, the understanding, reason for prescription and dosage. To describe the use of natural remedies in the rural environment. To correlate the medication and the natural remedies consumption with health's self-perception. DESIGN: Cross-sectional study. SETTING: Health Center of Santa Eugènia de Berga. Barcelona. PATIENTS: Covered people aged 70 or more, not in an institution, selected by systematic sampling obtained from an updated age and sex register. MEASUREMENTS: A standard questionnaire was used, gathering aspects about medicine and natural remedies consumption and health's self-perception. RESULTS: The average of medicines was 3.08 (SD 2.5) for person. Therapeutics groups most prevalent were cardiovascular and nervous system drugs. The patients remembered correctly the reason of the prescription of the 77% of the medicines and the dosage of the 85%. The 25% of patients needed assistance of some family for to take the medication. We have found statistical significance between health's self-perception and the number of consumed drugs. The 47% of aged population used natural remedies. CONCLUSIONS: The knowledge of medical treatment of our elderly people is satisfactory. We detect in our study a high rate of polymedication. It is necessary, if possible, to rationalize and to reduce the number of drugs. It is useful to revise and to update periodically the elderly people medication. The natural remedies is included on the people's pharmacology and its use is important.

Aged↗
PubMed1999

Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients.

We screened the 185delAG and 5382insC (BRCA1) and the 6174delT (BRCA2) mutation in 298 Spanish women with breast cancer. Two women (one with Sephardic ancestors) presented the 185delAG mutation and the same haplotype reported in Ashkenazim with this mutation. This suggests a common origin of the 185delAG in both Sephardic and Ashkenazi populations.

Adult↗
PubMed1999

Technical note: use of PCR-single-strand conformation polymorphism analysis for detection of bovine beta-casein variants A1, A2, A3, and B.

We have optimized the polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) technique to screen the most frequent variants (A1, A2, A3, and B) of the bovine beta-casein gene. Five partly overlapping PCR products (233, 234, 265, 466, and 498 bp) of Exon VII of the beta-casein gene that encompass the target point mutations were heat-denatured, separated on nondenaturing polyacrylamide gels, and silver-stained. Simultaneous detection of all variants in reference samples of known genotypes (A1A2, A2A2, A1A3, A1B, and A2B) was best achieved on 17% polyacrylamide (100:1 acrylamide:bis-acrylamide ratio) gels with the PCR product of 234 bp. These results were confirmed by sequencing the allele-specific SSCP bands directly excised from polyacrylamide gels. A population of 65 anonymous samples belonging to various breeds was then analyzed twice, without discrepancies in a blind trial. Routine beta-casein genotyping using PCR-SSCP is proposed as a cost-effective, fast, and sensitive technique.

Animals↗
PubMed1999

[Prevalence of Factor V Leiden and the G20210A mutation of the prothrombin gene in a random group of patients with thrombotic episodes].

UNLABELLED: Factor V Leiden and G20210A mutation of the prothrombin gene have been described as risk factors in thrombophilic pathologies. Our objective has been to know the prevalence of these two mutations in a group of patients with thrombophilic pathology and to compare it with its prevalence in a control group of Spanish population. PATIENTS AND METHODS: 64 patients were divided in two groups. First, 39 patients with deep venous thrombosis (DVT): 24 with an unique episode of DVT; 11 with more than one episode; 3 with DVT and pulmonary thromboembolism, and one with DVT and more than one episode of cerebral thrombosis. Second, 25 patients with other pathologies, such as pulmonary thromboembolism (9 patients), acute cerebrovascular accident (10 patients) and 6 who came to our Department because there were some carrier in their families. The 20210A allele was analyzed in 37 of the 64 patients. Some of the 64 patients had haematological determinations of the activated protein C resistance (APC resistance). As well, 103 unrelated subjects with unknown thrombotic pathologies were analyzed. RESULTS: We have found a prevalence of factor V Leiden in the group of patients of 14.1% (9 carriers in 64 patients, all of them in the first group of 39 patients with DVT) versus 1% in the control group (1 carrier in 103 controls). On the other hand, the difference between the prevalence of the 20210A allele was not statistically significant between the group of patients and the control group (2.7% vs 2.9%). In 75% of the patients no haematological results of APC resistance were obtained, generally because they were with anticoagulant treatment, and in 11.1% of the carriers the result of the determination was considered as ambiguous or false negative. CONCLUSION: Factor V Leiden is well established as risk factor in the thrombophilic pathology, but more studies are needed to know the meaning of the G20210A mutation of the prothrombin gene.

Alleles↗
PubMed1999

[MLL rearrangements in acute leukemias].

PURPOSE: In present study we have studied MLL rearrangements in a serie of acute myeloid, lymphoblastic and biphenotypic leukaemias. PATIENTS AND METHODS: We analyzed a total of 11 cases: 9 acute myeloid leukaemias (M4 and M5 subtypes in FAB classification), 1 lymphoid leukaemia, and 1 acute biphenotypic leukaemia. We studied bone marrow samples from all patients by using conventional cytogenetic techniques and fluorescence in situ hybridization (FISH) with an MLL probe. We also analyzed the correlation between clinical features and genetic results. RESULTS: Cells from 6 patients showed to contain MLL rearrangements and these arose in all types of leukaemias included in this study. Some MLL rearrangements were detected by FISH in kariotypically normal cases or without cytogenetic evidence of 11q23 aberration. MLL gene duplication has been observed in two cases with M4 and biphenotypic leukaemia, respectively. The presence of MLL gene rearrangements does not shape a group of patients with a common clinical pattern. CONCLUSIONS: MLL rearrangements occurs in a wide variety of leukemias. These rearrangements should be screened by FISH techniques, taking into account that gene duplications could arise in cases with normal karyotype. MLL rearrangements appear to have a considerable clinicopathologic heterogeneity.

Adult↗
PubMed1998

Severity of cognitive impairment in juvenile and late-onset Huntington disease.

OBJECTIVES: To compare the severity of cognitive impairment among groups of patients with different age ranges at the onset of Huntington disease (HD) and to evaluate the variable influence of motor and cognitive deficits on functional disability across different ages at the onset of HD. DESIGN: Cross-sectional multidisciplinary evaluation of patients referred to our institution for care related to a possible diagnosis of HD. SETTING: The Huntington disease program in the Departments of Neurology and Genetics at the Fundación Jimenez Diaz, Madrid, Spain. PARTICIPANTS: Seventy-one patients with Huntington disease were classified into 3 groups depending on age at onset of motor symptoms: juvenile onset, 25 years of age or younger (group 1, n = 15); adult onset, from 26 to 50 years (group 2, n = 43); and late onset, 51 years or older (group 3, n = 13). Age- and education-matched controls (n=50) were included to compare cognitive performance with patients in groups 1 and 3. MEASURES: Cognitive evaluation encompassed a wide neuropsychological battery to assess global cognitive functioning and visuospatial, prefrontal, and memory functions. Clinical data included motor and functional variables measured by using the Unified Huntington's Disease Rating Scale. Genetic analysis determined the number of CAG trinucleotide repeats. RESULTS: Patients in group 1 scored 2.9 points and patients in group 3 scored 4.2 points below their respective controls on the Mini-Mental State Examination. Patients in groups 1 and 3 were similarly impaired in verbal memory. Visual function was much more impaired in patients in group 3, and prefrontal functions were slightly worse in patients in group 1. Cognitive scores were correlated only with time of evolution for patients in group 2. Functional scores were not significantly different among the 3 groups, but 11 (85%) of the patients in group 3 were in stage I or II vs 10 (67%) of the patients in group 1. Total functional capacity correlated better with the Mini-Mental State Examination score for patients in group 3 and with motor deficits (akinesia) and prefrontal dysfunction for patients in group 1. The mean+/-SD CAG repeat length decreased from 59.9+/-12.6 for patients in group 1 to 46.2+/-3.5 for patients in group 2 and 41.7+/-2.6 for patients in group 3. Longer CAG repeats in the HD study population correlated with akinetic features but not with cognitive performance. CONCLUSIONS: Despite the much greater genetic defect, cognitive status is slightly better preserved in patients with juvenile-onset HD. Cognitive impairment in patients with juvenile- and late-onset HD differs in the severity of visual and prefrontal deficits. Functional disability in patients with late-onset HD depends more on global cognitive status, while in patients with juvenile-onset HD, it is conditioned more by motor deficits and prefrontal dysfunction.

Adolescent↗
PubMed1998

Technical note: Detection of bovine kappa-casein variants A, B, C, and E by means of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP).

We used polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis to screen the most frequent variants (A, B, C, and E) found in the bovine kappa-casein gene. The PCR products (453 bp) were heat-denatured, loaded onto nondenaturing polyacrylamide gels, and silver-stained. Each variant yielded patterns clearly distinguishable from the others. Optimal conditions for the simultaneous detection of the four variants were 12% polyacrylamide gels (100:1 acrylamide:bis-acrylamide ratio) with 5% glycerol and a constant running temperature of 10 degrees C. Eight reference samples initially used for this purpose and 40 anonymous samples of different cattle breeds diagnosed by PCR-RFLP and PCR-SSCP showed no discrepancies between the two methods and confirmed previous results. Because it is cost-effective, sensitive, and fast, PCR-SSCP is strongly recommended to routinely screen kappa-casein variants for industrial purposes or in cattle selection schemes.

Alleles↗
PubMed1997

A region of allelic imbalance in 1q31-32 in primary breast cancer coincides with a recombination hot spot.

Previous studies have shown that the 1q31-32 region frequently presents allelic imbalance (AI) in various neoplastic diseases, such as breast cancer, medulloblastoma, male germ cell tumors, and renal collecting duct carcinoma, suggesting the presence of a tumor suppressor gene in this location. We used 19 informative microsatellite markers to analyze 33 primary breast tumors for AI in the 1q31-32 region. Our results demonstrate a 10-cM critical region of AI that is present in more than 60% of the tumors. This region is located proximal to the REN locus and is flanked by the CACNL1A3 and D1S2655 markers. Most important, the critical region of AI coincides with a female hot spot of recombination, suggesting a possible correlation between the two regions.

Alleles↗
PubMed1997

Use of a single-strand conformation polymorphism analysis to perform a simple genotyping of bovine kappa-casein A and B variants.

We propose an alternative method for casein genotyping, generally carried out using polymerase chain reaction followed by restriction fragment length polymorphism analysis. Application of the single-strand conformation polymorphism technique detects nucleotide changes in the fragment amplified by means of polymerase chain reaction and thus avoids the use of restriction enzymes. A 453 bp fragment from exon IV of kappa-casein has been amplified. The two variants (A and B), found with the highest frequencies in most bovine breeds and included in some dairy cattle selection schemes, can be discriminated using single-strand conformation polymorphism analysis of heat denatured fragments in acrylamide-bis-acrylamide (100:1) gels followed by silver staining. kappa-Casein genotyping is therefore simplified, although variants A and E on the one hand, and B and C on the other, are not distinguishable with this technique.

Animals↗
PubMed1997

[Purulent pericarditis. A 10-year retrospective study].

The authors carried out a retrospective study of 10 cases (ages below 11 years) with purulent pericarditis diagnosed and treated at the Coimbra Paediatric Hospital during a 10 year period (1 January 1985-31 December 1994). This study identified an average of 1 case per year, a low age group, low morbidity and nil mortality. Our results were due to early diagnosis and immediate aggressive medico-surgical managements, namely, systemic antibiotics covering the most common organisms during at least 3 weeks coupled with extensive pericardiocentesis associated with saline lavage.

Bacterial Infections↗