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Biomedical subjects

Carmen Alonso

Publications and source records attributed to Carmen Alonso.

At least 19 recordsLinked to original sources
PubMed2007

Metabolic syndrome in women with chronic pain.

Fibromyalgia is a prevalent syndrome characterized by chronic pain, fatigue, and insomnia. Patients with fibromyalgia commonly have an elevated body mass index and are physically inactive, 2 major risk factors for metabolic syndrome. Yet little is known about the relationship between chronic pain conditions and metabolic disturbances. Our study evaluated the risk for, and neuroendocrine correlates of, metabolic syndrome in this patient population. Women with fibromyalgia (n = 109) were compared with control healthy women (n = 46), all recruited from the community. Metabolic syndrome was identified by using criteria from the Adult Treatment Panel III with glycosylated hemoglobin concentrations substituted for serum glucose. Catecholamine and cortisol levels were determined from 12-hour overnight urine collections. Women with fibromyalgia were 5.56 times more likely than healthy controls to have metabolic syndrome (95% confidence interval, 1.25-24.74). Fibromyalgia was associated with larger waist circumference (P = .04), higher glycosylated hemoglobin (P = .01) and serum triglyceride (P < .001) levels, and higher systolic (P = .003) and diastolic (P = .002) blood pressure. Total and low-density lipoprotein cholesterol were also significantly higher in women with fibromyalgia (P = .001 and .02, respectively), although high-density lipoprotein cholesterol was in the reference range. These associations were not accounted for by age or body mass index. Meeting criteria for more metabolic syndrome components was related to higher urinary norepinephrine (NE)/epinephrine and NE/cortisol ratios (P < .001 and P = .009, respectively). Women with chronic pain from fibromyalgia are at an increased risk for metabolic syndrome, which may be associated with relatively elevated NE levels in conjunction with relatively reduced epinephrine and cortisol secretion.

Adult↗
PubMed2006

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

Germ-line mutations in BRCA1 and BRCA2 are responsible for about 30-60% of the hereditary breast and ovarian cancer (HBOC). A large number of point mutations have been described in both genes. However, large deletions and duplications that disrupt one or more exons are overlooked by point mutation detection approaches. Over the past years several rearrangements have been identified in BRCA1, while few studies have been designed to screen this type of mutations in BRCA2. Our aim was to estimate the prevalence of large genomic rearrangements in the BRCA2 gene in Spanish breast/ovarian cancer families. The multiplex ligation-dependent probe amplification (MLPA) was employed to search gross deletions or duplications of BRCA2 in 335 Spanish moderate to high-risk breast/ovarian cancer families previously screened negative for point mutations by conventional methods. Four different and novel large genomic alterations were consistently identified by MLPA in five families, respectively: deletions of exon 2, exons 10-12 and exons 15-16 and duplication of exon 20 (in two families). RT-PCR experiments confirmed the deletion of exons 15-16. All patients harbouring a genomic rearrangement were members of high-risk families, with three or more breast/ovarian cancer cases or the presence of breast cancer in males. We provide evidence that the BRCA2 rearrangements seem to account for a relatively small proportion of familial breast cancer cases in Spanish population. The screening for these alterations as part of the comprehensive genetic testing can be recommended, especially in multiple case breast/ovarian families and families with male breast cancer cases.

Adult↗
PubMed2006

Diarrhoea-predominant IBS patients show mast cell activation and hyperplasia in the jejunum.

BACKGROUND: Increased numbers of mast cells and mast cell activation in distal gut segments are associated with symptom onset and severity in irritable bowel syndrome (IBS). Although upper gut symptoms are common, mast cells have not been thoroughly evaluated in proximal gut in IBS patients. METHODS: Jejunal biopsies obtained by Watson's capsule, aspiration of intestinal fluid and one blood sample were obtained in 20 diarrhoea-predominant patients with IBS (D-IBS) and 14 healthy volunteers (H). Psychological stress (Holmes-Rahe Scale) and depression (Beck's Depression Inventory) were evaluated at baseline and food and respiratory allergy excluded. Biopsies were processed for H&E staining and microscopic inflammation assessed by counting intraepithelial lymphocytes. Mast cells in lamina propria were counted by immunohistochemistry with CD117 (c-kit). Tryptase concentration was measured in intestinal fluid and serum. RESULTS: D-IBS patients showed higher psychological stress than healthy volunteers (D-IBS: 203 (SD 114) v H: 112 (SD 99); p = 0.019). Immunohistochemical staining of jejunal mucosa revealed mild increase in intraepithelial CD3+ cells in D-IBS patients (D-IBS: 15.3 (SD 5.5; 95% CI 12.7 to 17.9) v H: 10.3 (SD 3.9; 95% CI 8.0 to 12.5); p = 0.006). Moreover, D-IBS patients showed marked increase in mast cells numbers (D-IBS: 34 (SD 9.3); H: 15.3 (SD 4.4) mast cells/hpf; p<0.001) and higher tryptase concentration in jejunal fluid (D-IBS: 0.45 (SD 0.38); H: 0.09 (SD 0.10) microg/l; p = 0.005). Upper gut symptoms were not associated with gender, mast cell counts, jejunal tryptase or basal stress. CONCLUSION: This jejunal mucosal inflammatory profile may help identify diarrhoea-predominant IBS, a stress-related disorder.

Adult↗
PubMed2006

Targeting mast cells in the treatment of functional gastrointestinal disorders.

Enhanced knowledge of the pathophysiological basis of functional gastrointestinal disorders indicates that low-grade mucosal inflammation and mast cell hyperplasia are common findings. Mast cells are multipotent and mucosa-dwelling residents are uniquely located to communicate with host immune and nervous supersystems and with the gut microflora to provide tight microenvironmental conditions. Maintenance of homeostasis within this integrated defense system is crucial for symbiotic health, whereas breakdown of that balance might lead to uncontrolled mucosal and systemic inflammation. Numerous advances have recently emerged in the understanding of regulatory mechanisms of mast cell activation, development and homing to mucosal surfaces, as well as of the role of mast cells in key steps of mucosal inflammation. Such observations have stimulated the development of candidate drugs, such as tryptase or Syk inhibitors, that might be useful for the treatment of gastrointestinal functional disorders.

Gastrointestinal Diseases↗
PubMed2005

Toxicity of the antimicrobial oxytetracycline to soil organisms in a multi-species-soil system (MS.3) and influence of manure co-addition.

The effects of oxytetracycline (OTC) on soil organisms have been studied using a multi-species-soil system (MS.3). Oxytetracycline concentrations of 0.01 mg/kg, 1 mg/kg and 100 mg/kg soil were added to the 20 cm top arable soil layer, with and without horse/cow manure (0.15 g organic N/kg soil) co-addition. No mortality was observed for Eisenia foetida S. but significant effects on soil microbial enzymatic activities (phosphatase, dehydrogenase) were observed. The effects on soil microorganism were observed earlier but then recovered in systems with manure co-addition. More important, OTC related plant inhibition was observed in the manured but not in the non-manured systems. Oxytetracycline reached 0.19 and 1.85 mg/l in the leachate of the soil spiked with 1 and 100 mg OTC/kg, respectively and 0.05 and 1.14 mg/l for the same OTC concentrations in the manured systems. The results confirm that manure can modify both the fate and the effects of OTC and that the multi-species-soil systems can reproduce the conditions for a realistic effect estimation of veterinary medicines.

Animals↗
PubMed2005

Mutant BRCA1 alleles transmission: different approaches and different biases.

Recently, a non-random transmission of BRCA1 mutant alleles to the off-spring of carriers has been suggested. If confirmed by further studies, the finding will have important implications both for risk assessment and the understanding of BRCA1 biology. However, these kind of analysis are not easy to perform due to several ascertainment biases inherent to the identification of BRCA1 carriers. In this report we propose different approaches to overcome such biases and we present additional data supporting a non-random transmission of BRCA1 mutant alleles.

Age Factors↗
PubMed2005

Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers.

Familial breast cancers that are associated with BRCA1 or BRCA2 germline mutations differ in both their morphological and immunohistochemical characteristics. To further characterize the molecular difference between genotypes, the authors evaluated the expression of 37 immunohistochemical markers in a tissue microarray (TMA) containing cores from 20 BRCA1, 14 BRCA2, and 59 sporadic age-matched breast carcinomas. Markers analyzed included, amog others, common markers in breast cancer, such as hormone receptors, p53 and HER2, along with 15 molecules involved in cell cycle regulation, such as cyclins, cyclin dependent kinases (CDK) and CDK inhibitors (CDKI), apoptosis markers, such as BCL2 and active caspase 3, and two basal/myoepithelial markers (CK 5/6 and P-cadherin). In addition, we analyzed the amplification of CCND1, CCNE, HER2 and MYC by FISH. Unsupervised cluster data analysis of both hereditary and sporadic cases using the complete set of immunohistochemical markers demonstrated that most BRCA1-associated carcinomas grouped in a branch of ER-, HER2-negative tumors that expressed basal cell markers and/or p53 and had higher expression of activated caspase 3. The cell cycle proteins associated with these tumors were E2F6, cyclins A, B1 and E, SKP2 and Topo IIalpha. In contrast, most BRCA2-associated carcinomas grouped in a branch composed by ER/PR/BCL2-positive tumors with a higher expression of the cell cycle proteins cyclin D1, cyclin D3, p27, p16, p21, CDK4, CDK2 and CDK1. In conclusion, our study in hereditary breast cancer tumors analyzing 37 immunohistochemical markers, define the molecular differences between BRCA1 and BRCA2 tumors with respect to hormonal receptors, cell cycle, apoptosis and basal cell markers.

Adult↗
PubMed2005

Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?

BACKGROUND: There has been controversy regarding whether BRCA1 germline mutations favor female births or whether the sex imbalances observed are attributable to ascertainment bias. Our aims were to compare the sex ratios among offspring of BRCA1-positive, BRCA2-positive, and BRCA-negative families undergoing genetic testing in clinical programs, and to determine whether ascertainment bias is responsible for the observed preponderance of female offspring. PATIENTS AND METHODS: A total of 145 breast and/or ovarian cancer families with mutations in BRCA1 (n = 83) or BRCA2 (n = 62), and 90 families without identifiable mutation were collected for the study from familial cancer clinics in Barcelona, Spain, and Boston, US. Sex ratio was analyzed among all births in the families and offspring of all (tested and obligate) carriers. In order to minimize the effect of family history of cancer, the analysis was also performed among offspring of the most recent generation of mutation-positive carriers who did not have affected children and compared with a control group comprised of the offspring of the most recent adult generation of non-carriers from families with a known mutation. RESULTS: There was a statistically higher proportion of female births in all groups (BRCA1 59% (95% CI = 57-61%), BRCA2 58% (56-61%), and BRCA-negative 59% (56-61%), respectively). The female preponderance persisted in analyses limited to offspring of BRCA1 and BRCA2 carriers (61% (57-65%), and 62% (58-66%), respectively), with no differences between the two mutation groups. In contrast, the excess of female offspring disappeared when ascertainment or recall biases were minimized, 44% (37-52%), and 39% (26-53%) for BRCA1; 51% (44-58%), and 46% (33-60%) for BRCA2. CONCLUSIONS: Our findings suggest that there is no asymmetry in birth outcomes among BRCA1 or BRCA2 mutations carriers. Rather ascertainment bias in families participating in genetic testing, or in the family history information they provide is likely to account for excess of female offspring previously reported.

Bias↗
PubMed2005

Review of benzodiazepine use in children and adolescents.

Clinically, benzodiazepines are used in adult populations much more frequently than in children and adolescents. There may be a number of reasons for this disparity including a dearth of well controlled clinical studies and the issue of dependence associated with long term use. However, over a ten year span there has been nearly a three fold increase in the use patterns for these agents in the child population. In open studies much of the literature has indicated potentially useful results, but these findings have not been replicated when more refined methodological studies have been conducted. The lack of encouraging results in these later studies may be attributable to a number of factors such as modest sample sizes and less than optimal patient selection. Nonetheless, with increasing prescriptions being written for these agents it is not clear what is compelling clinicians to use them. In this paper we will review the available literature on benzodiazepine use in the child and adolescent population, focusing primarily on psychiatric applications.

Adolescent↗
PubMed2005

Anisakis simplex-induced small bowel obstruction after fish ingestion: preliminary evidence for response to parenteral corticosteroids.

BACKGROUND & AIMS: Gastrointestinal anisakiasis, a fish-borne zoonoses, may be acquired by humans after the ingestion of raw marine fish infested with larvae of the nematode Anisakis simplex. Because of the invasive nature of the parasite, inflammatory obstruction or perforation of the gut wall may result. Although rare, Anisakis-induced intestinal obstruction is becoming a growing public health problem in Mediterranean areas, such as Spain, with a high fish-intake-based diet. Unawareness of this entity and nonspecific clinical symptoms, along with the lack of alternative therapeutic options other than conservative measures, may explain why half of these patients require abdominal laparotomy for diagnostic and therapeutic purposes. METHODS: We describe a series of 8 patients with acute intestinal anisakiasis treated in our center from July 2001 to January 2004. RESULTS: The first 3 patients underwent segmental ileal resection for imminent peritonitis. The remaining 5 patients were treated with intravenous 6-methylprednisolone (1 mg/kg/24 h) for 5 days with fast clinical and radiologic resolution in all 5 patients with no adverse reactions. CONCLUSIONS: Although preliminary, our data may suggest that parenteral corticosteroids could be a reasonable, inexpensive, and safe alternative in these patients to prevent intestinal resection.

Adult↗
PubMed2005

In the face of pain: the relationship between psychological well-being and disability in women with fibromyalgia.

BACKGROUND: Few studies have examined the potentially beneficial role of positive psychological functioning in individuals with chronic pain. This study examined the relationship of psychological well-being (PWB) to pain and disability in women with fibromyalgia (FM) as compared to women with rheumatoid arthritis (RA) and healthy controls (HC). We targeted several domains of PWB that have been associated with health, and also tested whether PWB was related to the women's social network. METHODS: PWB, pain, and disability were assessed in 125 women (57 with FM, 20 with RA, and 48 HC) on two occasions. RESULTS: Women with FM reported lower overall PWB than did RA and HC women. Further, greater PWB was associated with less disability and fatigue, but not pain in women with FM. Self-acceptance, environmental mastery, purpose in life, and positive relations with others emerged as four important constructs in the association between PWB and disability. In addition, PWB mediated the relationship between social network size and disability. CONCLUSIONS: This assessment of PWB provides insight into those psychological domains that should be emphasized in treatments aimed at reducing the disabling aspects of FM.

Adult↗
PubMed2005

Effects of sulfachlorpyridazine in MS.3-arable land: a multispecies soil system for assessing the environmental fate and effects of veterinary medicines.

A multispecies soil system (MS.3) has been used to evaluate the ecological effects of veterinary pharmaceuticals in soil as a result of routine agricultural practices. Different experimental conditions were tested and the variation of the different parameters was evaluated for a final design. A protocol for the MS.3-arable land is presented here. Emergence of seedlings, plant elongation and biomass, earthworm mortality, and soil microbial enzymatic activities have been selected as toxicological endpoints for soil organisms. Toxicity tests were conducted with the leachate on aquatic organisms (in vitro fish cell lines, daphnids, and algae). The system was used for assessing the effects of the antimicrobial sulfachlorpyridazine that was tested in triplicate at concentrations of 0.01, 1, and 100 mg/kg. The chemical was mixed uniformly with a 20-cm depth soil column to resemble the distribution of manure within arable soil. Reversible and nonreversible effects on soil enzymatic activities were observed at 1 and 100 mg/kg, respectively. Earthworms were not affected. Significant reduction of plant elongation and biomass was observed at the highest concentration. Degradation and leaching contributed to the dissipation of sulfachlorpyridazine from the soil column. The undiluted leachate was highly toxic to Daphnia magna. The parent chemical was assumed responsible for the leachate toxicity although the role of mobile metabolites could not be excluded fully. No significant effects were observed for green algae Chlorella vulgaris and for the rainbow trout established cell lines RTG-2 (rainbow trout gonads) and RTL-WI (rainbow trout liver). The MS.3 system offers a cost-effective experimental approach to measure simultaneously fate and effects of chemicals on a realistic soil system under controlled laboratory conditions. The advantages of using MS.3-effect endpoints are discussed.

Agriculture↗
PubMed2004

[Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer].

BACKGROUND AND OBJECTIVE: It is estimated that 5-10% of all breast cancers are hereditary, mainly are due to germline mutations in the BRCA1 and BRCA2 genes. PATIENTS AND METHOD: A BRCA2 screening was carried out in familial breast/ovarian cancer at two centres in Spain and Chile. The 6857delAA mutation was identified in 3 Spanish families and one Chilean, all of them with Spanish ancestors. The BRCA2 haplotype of the 6857delAA carriers was analyzed using five microsatellite markers flanking the BRCA2 gene, spanning a region of 6 cM: cen-D13S260, D13S1698, (BRCA2), D13S171, D13S310 and D13S267-tel. RESULTS: Two families shared the allelic variants of the 5 microsatellites studied. Markers D13S260 and D13S267 differed in one allele in two families, respectively. The defined haplotype was absent in non-carriers from these families, and was not detected in 100 control chromosomes without the mutation. CONCLUSIONS: Our results suggest the existence of a common ancestry with the mutation originating in the Northeast of Spain. Given the migratory movements from Spain to Latin America, the screening of recurrent Spanish mutations can be useful in establishing a more rational and cost-effective analysis in such populations.

Breast Neoplasms↗
PubMed2004

The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.

Six SNPs have been detected in the DNA repair genes RAD51C and RAD51D, not previously characterized. The novel variant E233G in RAD51D is more highly represented in high-risk, site-specific, familial breast cancer cases that are not associated with the BRCA1/2 genes, with a frequency of 5.74% (n = 174) compared to a control population (n = 567) and another subset of breast cancer patients (n = 765) with a prevalence of around 2% only (comparison to controls, OR = 2.6, 95% CI 1.12-6.03; p < 0.021). We found that the immunohistochemical profile detected in available tumors from these patients differs slightly from those described in non-BRCA1/2 tumors. Finally, the structural prediction of the putative functional consequence of this change indicates that it can diminish protein stability and structure. This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.

Age of Onset↗
PubMed2004

The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population.

Searching for low-penetrance genes involved in breast cancer susceptibility has been a field of interest in the last few years. Recently, the CHEK 2 gene, involved in DNA damage and replication checkpoints, has been pointed out as a good candidate; moreover, a specific variant in this gene,1100delC, has been found to increase breast cancer susceptibility among familial breast cancer cases not attributable to mutations in BRCA1 or BRCA2 genes. In our present study, we evaluated the role of the 1100delC variant as a susceptibility allele in breast cancer in the Spanish population. However, our results suggest that this variant is absent or very infrequent in our population, making its screening irrelevant from the practical point of view.

Alleles↗
PubMed2004

Menstrual cycle influences on pain and emotion in women with fibromyalgia.

OBJECTIVE: This study examined the influence of the menstrual cycle on pain and emotion in women with fibromyalgia (FM) as compared with women with rheumatoid arthritis (RA) and to healthy controls. METHODS: One hundred and twenty-five premenopausal women (21-45 years old) participated in this study (57 with FM, 20 with RA, and 48 controls). Pain and emotion assessments were conducted during the follicular and the luteal phases of the menstrual cycle. RESULTS: Women with FM experienced more pain, menstrual symptoms, and negative affect than did women with RA and the controls. All women reported less positive affect during the luteal phase, although this pattern was more pronounced in women with FM and RA than in controls. CONCLUSION: Although FM pain did not vary across the menstrual cycle, these results point to the importance of considering the lower level and cyclical nature of positive affect when studying women with chronic pain.

Adult↗
PubMed2004

Prospective randomized phase III trial of etoposide/cisplatin versus high-dose epirubicin/cisplatin in small-cell lung cancer.

High-dose epirubicin plus cisplatin was compared with the reference regimen of etoposide/cisplatin in small-cell lung cancer (SCLC). Four hundred two previously untreated patients with SCLC were randomized to receive etoposide 100 mg/m(2) on days 1-3 and cisplatin 100 mg/m(2) on day 1 or epirubicin 100 mg/m(2) and cisplatin 100 mg/m(2) on day 1 every 21 days for a total of 6 cycles. Patients were stratified according to treatment center and extent of disease (limited disease, n = 207; extensive disease, n = 195). Patients with limited disease were treated with thoracic radiation therapy after completion of chemotherapy, and those who exhibited a complete response were advised to receive prophylactic cranial irradiation. The primary endpoint was survival, and secondary endpoints were time to progression (TTP), response, toxicity, and costs. Patient characteristics were generally well balanced in the 2 arms, even though more patients in the epirubicin/cisplatin arm had > 5% weight loss and poor Karnofsky performance index compared with the etoposide/cisplatin arm. One hundred thirty-four patients (66.3%) in the etoposide/cisplatin arm and 126 (63.0%) in the epirubicin/cisplatin arm received all 6 planned cycles of chemotherapy. Response rate, TTP, and survival did not differ significantly between the 2 arms. Grade 3/4 neutropenia and toxic deaths occurred more frequently in the etoposide/cisplatin arm. Epirubicin/cisplatin showed a similar activity with a slightly lower toxicity profile than the reference regimen of etoposide/cisplatin. The epirubicin/cisplatin regimen may be recommended in the treatment of SCLC.

Adult↗