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Biomedical subjects

O Fernández

Publications and source records attributed to O Fernández.

At least 19 recordsLinked to original sources
PubMed2006

Contribution of MHC class I region to genetic susceptibility for giant cell arteritis.

OBJECTIVE: The aim of this study was to assess the potential contribution of HLA-class I MICA and HLA-B gene polymorphisms towards the pathogenesis of giant cell arteritis (GCA). METHODS: Ninety-eight biopsy-proven GCA patients and 225 ethnically matched controls from Lugo, Northwest Spain, were genotyped for the MICA-TM microsatellite polymorphism using a polymerase chain reaction (PCR)-based method. Genotyping of HLA-B was performed using PCR and detection with a reverse sequence-specific oligonucleotide (SSO) probes system. RESULTS: A significant difference in the distribution of the alleles of MICA between patient and control groups (P = 0.005) was found. This was due to an increased frequency of the MICA A5 allele in GCA patients compared with controls (26 vs 13.6%; P = 0.0001; P(C) = 0.0005; OR 2.2, 95% CI 1.4-3.4). In addition, the HLA-B*15 allele showed a higher frequency in GCA patients compared with controls (P = 0.004; P(C) = 0.04; OR 2.7, 95% CI 1.3-5.7). Interestingly, the association observed with the MICA A5 allele seems to be independent of linkage disequilibrium with HLA-B, as well as independent of that previously described with HLA-DRB1*04. Remarkably, simultaneous presence of MICA A5 and HLA-B*15 or HLA-DRB1*04 genetic markers leads to an increase in the OR obtained for each individual genetic marker (MICA A5 + B*15 OR 3.2; MICA A5 + DRB1*04 OR 5.8). CONCLUSIONS: Our results provide the first evidence that the MICA and HLA-B genes are independently associated with the genetic susceptibility to GCA, and suggest that several genes within the MHC might have independent effects in the susceptibility to this systemic vasculitis.

Aged↗
PubMed2006

Asporin repeat polymorphism in rheumatoid arthritis.

BACKGROUND: Asporin belongs to a family of proteins associated with the cartilage matrix. OBJECTIVE: To investigate the role of the functional polymorphism consisting of an aspartic acid (D) repeat polymorphism located in the ASPN gene in the susceptibility to and clinical outcome of rheumatoid arthritis. METHODS: A total of 803 Spanish Caucasian patients with rheumatoid arthritis and 904 controls of the same ethnic origin and matched for age and sex were included in the study. The asporin D repeat polymorphism was genotyped using polymerase chain reaction with a fluorescent primer. RESULTS: No significant differences were detected in the distribution of the 10 alleles found in our population on comparing patients with rheumatoid arthritis with control groups. Nevertheless, individuals bearing D14 produced rheumatoid factor more often than the rest (85.7% v 72.1%, p = 0.006, odds ratio (OR) = 2.35, 95% confidence interval 1.21 to 4.50), and the mean (SD) onset age was higher in the group of individuals bearing D13 (50.09 (13.94)) compared with the rest (47.21 (14.31)), although the difference did not reach significance (p = 0.06). CONCLUSION: The results do not support a major role for asporin D repeat polymorphism in the susceptibility to rheumatoid arthritis. Nevertheless, they support the influence of this gene on the outcome of the disease.

Adult↗
PubMed2006

Saturated fat in the diet of Spanish children: relationship with anthropometric, alimentary, nutritional and lipid profiles.

OBJECTIVE: To compare the anthropometric, alimentary, nutritional and lipid profiles and global diet quality of Spanish children according to saturated fat intake. DESIGN: This was a cross-sectional study. Food data were collected using a food-frequency questionnaire. SUBJECTS AND METHODS: The sample included 1112 children of both sexes, aged between 6 and 7 years, selected by means of random cluster sampling in schools. The plasma lipid profile included measurements of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides, apolipoprotein A1 (apoA1) and apolipoprotein B (apoB). Global diet quality was evaluated by the Dietary Variety Index (DVI) and the Healthy Eating Index (HEI). RESULTS: Energy intake, DVI and HEI of children from the lower quartile of saturated fat intake (LL) were higher (P<001) than in the remaining children (UL). However, there were no significant differences in average height or weight between groups. The UL children had lower intakes of meat, fish, vegetables, fruits and olive oil and a higher intake of dairy products (P<0.001). The intakes of fibre, vitamins C, D, B6, E and folic acid were higher in the LL children, who had lower intakes of vitamin A and calcium. The ratios LDL-C/HDL-C and apoB/apoA1 were lower (P=0.04) in the LL children (1.87 and 0.52, respectively) than in the UL children (2.02 and 0.54, respectively). CONCLUSIONS: The growth rate of children does not seem to be affected by the level of saturated fat intake. Furthermore, at the levels of intake observed in this study, diets with less saturated fat are associated with better alimentary, nutritional and plasma lipid profiles.

Anthropometry↗
PubMed2005

HLA class II and response to interferon-beta in multiple sclerosis.

OBJECTIVE: To study the relationship between human leucocyte antigen (HLA) genotype and clinical response to interferon-beta (IFN-beta). METHODS: We analysed the HLA class II genotypes of 96 multiple sclerosis (MS) patients treated with IFN-beta. The patients were classified as responders or non-responders according to clinical criteria: one or more relapses or a sustained increase after 1 year treatment compared with the year prior to IFN-beta therapy of > or = 0.5 points on the Expanded Disability Status Scale (EDSS). RESULTS: There were 66 (69%) responders and 30 (31%) non-responders. Baseline clinical characteristics were similar. We found no association between HLA class II alleles and clinical response to IFN-beta. CONCLUSIONS: HLA genotype does not appear to influence the clinical response to IFN-beta in MS patients.

Adult↗
PubMed2005

[Medium and long-term results of the use of videothorascopy in surgery of pulmonary metastasis resection].

The surgical resection of pulmonary metastases is a method of treatment accepted as habitual in thoracic surgery. However, it continues to be a source of controversy if this resection must be realised by thoracotomy or by modern video-assisted techniques. With the aim of finding a response to this controversy in our work milieu, a review was made of the surgical interventions carried out in order to resect pulmonary metastases. Between January 1997 and December 2001, 56 patients were found whose pulmonary metastases had been resected by videothorascopy out of a total of 252 metastasectomies (22.2%). The primary tumours were classified in 4 groups: sarcoma (n=11); colorectal (n=25); renal (n=5); and others (n=15). Videothorascopy was carried out on the right hemithorax (n=28), left hemithorax (n=22) or on both at once (n=6). Operational mortality was nil and the only morbidity attributable to the technique was a defect of re-expansion following the removal of the thoracic drainage in one patient. Using the Kaplan-Meier method, the probability of survival in this series of patients was 60.4% after 5 years, with an average survival time of 48 months. All of this data supports the use of videothorascopy in our milieu on patients with pulmonary metastases. However, in the light of the results, it is important in using this technique to place special emphasis on obtaining good margins of resection, due to the real risk of local recurrence on these margins in the medium term.

Adolescent↗
PubMed2004

[Disseminated Mycobacterium chelonae infection during HIV. ].

INTRODUCTION: An atypical mycobacterium, Mycobacterium chelonae is a saprophyte germ in the environment, but rarely pathogenic. A few disseminated infections can be noted in immunodepressed patients. OBSERVATION: A 30 year-old man infected by HIV was hospitalised for deterioration in his general status of health with, on clinical examination, pallor, several superficial lymph nodes and hepatosplenomegaly. A biopsy of an axillary node and the liver revealed numerous granulomas with many atypical M. chelonae-like mycobacteria. Adapted treatment led to complete remission. DISCUSSION: Immunodepression facilitates the occurrence of M. chelonae infections, often of severe evolution and leading to dissemination. This mycobacterium is resistant to many antibiotics.

Adult↗
PubMed2004

Azathioprine and methotrexate in multiple sclerosis.

Evidence for the effectiveness of immunosuppressive agents in MS is scanty. There are few good quality trials; most have methodological limitations, such as a small sample size and short duration. Moreover, there is no consistency in treatment regimes, patient groups or outcome measures and the clinical benefits remain unclear. Although azathioprine appears to reduce the relapse rate in MS patients, its effect on disability progression has not been demonstrated. Methotrexate may alter the course of disease favourably in patients with progressive MS, but the evidence is again sparse.

Azathioprine↗
PubMed2004

DQB1*0602 allele shows a strong association with multiple sclerosis in patients in Malaga, Spain.

BACKGROUND: The human leukocyte antigen (HLA) class II DR2 haplotype (DRB1*1501, DQA1*0102, DQB1*0602) has been associated with multiple sclerosis (MS) in all ethnic groups and very strongly in Caucasians. AIM: To investigate the possible HLA class II (DRB1, DQA1 and DQB1) associations with MS in Malaga, southern Spain. METHODS: We analysed the HLA class II sub-regions DRB1, DQA1 and DQB1 by polymerase chain reaction (PCR) and sequence-specific oligonucleotide probe hybridization (PCR/SSO) for DRB1 and DQB1 and with sequence-specific primers (PCR/SSP) for DRB1 subtypes and DQA1. Possible HLA class II associations with clinical MS characteristics were investigated in 149 subjects with and 160 without MS. RESULTS: Associations were detected between MS and the HLA class II alleles DRB1*1501 (45.6 % vs. 21.3%, p=0.001), DQA1*0102 (44% vs. 29.4%, p=0.001) and DQB1*0602 (45% vs. 20.6%, p=0.001). The DR2 haplotype (DRB1*1501, DQA1*0102, DQB1*0602) was associated with MS (43.6 % vs. 20%, p=0.002). DQB1*0602 was the only allele that maintained an association with MS in a logistic regression model. No HLA class II alleles or genotypes were significantly associated with any clinical characteristics of MS. CONCLUSIONS: Our results confirm the positive association of the DR2 haplotype with MS, particularly the allele DQB1*0602, in the population studied. DR4 was not associated with the disease in Malaga. HLA class II alleles or haplotypes were not associated with clinical or demographic characteristics, or clinical form or severity of MS.

Adolescent↗
PubMed2003

Clinical benefits of interferon beta-1a in relapsing-remitting MS: a phase IV study.

OBJECTIVE: To evaluate the efficacy and safety of IFNbeta-1a (Avonex, Biogen, Inc., Cambridge, MA, USA) in patients with relapsing-remitting multiple sclerosis (MS). METHODS: In this multicenter, open-label, prospective clinical trial, 96 patients with relapsing-remitting MS received IFNbeta-1a 30 mcg intramuscularly once weekly for 2 years. Outcome variables included: change from baseline in mean number of exacerbations, proportion of exacerbation-free patients, and mean Expanded Disability Status Scale (EDSS) scores at Years 1 and 2. RESULTS: IFNbeta-1a significantly (P < 0.0001) reduced exacerbation rate at Years 1 and 2 of treatment. The percentage of exacerbation-free patients was 53% during Year 1 and 33% during Year 2. Mean EDSS scores were 2.96 +/- 1.26 at baseline, 2.89 +/- 1.42 at Year 1, and 3.00 +/- 1.62 at Year 2 (P = 0.116). EDSS scores improved in 35.4%, remained stable in 28.1%, and worsened in 36.5% of patients. IFNbeta-1a treatment was well tolerated. CONCLUSION: This study confirms and extends the beneficial clinical profile for IFNbeta-1a in relapsing MS.

Adolescent↗
PubMed2002

Multiple sclerosis and human herpesvirus 6.

BACKGROUND: A possible but as yet unproven relationship has been proposed between the onset or persistence of multiple sclerosis (MS) symptoms and herpesviruses, including, most recently, human herpesvirus 6 (HHV-6). A study was conducted to investigate the presence of HHV-6 DNA and the synthesis of antibodies against HHV-6, cytomegalovirus (CMV) and Epstein-Barr virus (EBV) in serum and cerebrospinal fluid (CSF) of patients with MS. MATERIALS AND METHODS: PCR and ELISA were used to detect HHV-6 DNA and specific antibodies against HHV-6, CMV and EBV in 211 samples (139 sera and 72 CSF). There were three groups of samples: group I, paired samples of serum and CSF from 41 MS patients; group II, paired samples of serum and CSF from 31 patients with neurological diseases other than MS (OND); group III, 67 serum samples from 27 different MS patients undergoing serologic follow-up. RESULTS: No HHV-6 DNA was found in any sample. Group I sera showed elevated anti-HHV-6 IgG and IgA levels. In group II, anti-CMV IgG was detected in one CSF sample and anti-HHV-6 IgM in one serum sample. Group III sera showed high concentrations of anti-HHV-6 IgG, IgA and IgM. CONCLUSION: Given the clinical implications of the presence of antibodies against HHV-6 in MS patients, a viral reactivation cannot be excluded as an environmental factor.

Adult↗
PubMed2002

Dietary patterns among children aged 6-7 y in four Spanish cities with widely differing cardiovascular mortality.

OBJECTIVE: Classic cardiovascular risk factors, such as smoking, arterial hypertension and hypercholesterolaemia, cannot explain a substantial part of the geographic differences in cardiovascular mortality. Anthropometric and nutritional factors in early stages of life may contribute to adult cardiovascular disease. Therefore, this work examines certain anthropometric variables and diet among children aged 6-7 y, living in four Spanish cities with widely differing ischaemic heart disease (IHD) mortality. DESIGN AND SETTING: Cross-sectional anthropometric and dietary survey in four cities in Spain. SUBJECTS: A total of 1112 children (50.1% males, 49.9% females) attending public and private schools in Cadiz and Murcia, cities with a relatively high IHD mortality, and Madrid and Orense, cities with a relatively low IHD mortality. A standardized method was used to measure anthropometric variables, and a food-frequency questionnaire completed by subjects' mothers, to measure diet. OUTCOME MEASURES: Body mass index (BMI), overweight (BMI>17.6 kg/m(2)), obesity (BMI>20.1 kg/m(2)) and intake of food and nutrients. RESULTS: Children in the four cities showed a high prevalence of overweight (range across cities, 28.9-34.5%) and obesity (8.5-15.7%). They also had a moderately hypercaloric diet (range, 2078-2218 kcal/day), marked by an excessive intake of lipids (45.0-47.3% kcal), particularly saturated fats (16.6-16.9% kcal), proteins (17.0-17.3% kcal), sugars (20.0-21.9% kcal) and cholesterol (161.6-182.9 mg/1000 kcal/day), and a low intake of complex carbohydrates (17.5-18.1% kcal) and fibre (19.6-19.9 g/day). Compared with children in the two low-IHD-mortality cities, those in the two high-IHD-mortality cities had a greater BMI (mean difference, 0.61 kg/m(2); P=0.0001) and ponderal index (0.58 kg/m(3); P=0.0001) and a higher intake of energy (104 kcal/day; P=0.007), cholesterol (16.00 mg/1000 kcal/day; P=0.0001) and sodium (321 mg/day; P=0.0001). Inter-city differences in anthropometric variables remained after adjustment for birthweight. CONCLUSIONS: Intake of fats, especially saturated fats, and cholesterol should be reduced among Spanish children. It could contribute to a needed reduction of the high prevalence of overweight and obesity in children. If the differences in anthropometric variables and diet between children from the cities with high and low coronary mortality are maintained in future or continue into adulthood, this could contribute to consolidate or even increase the IHD mortality gradient across cities. The finding that differences in anthropometric variables are independent of birthweight suggests that the childhood, rather than intrauterine environment, is involved in the development of such differences. SPONSORSHIP: This study was partly funded by grants from the International Olive Oil Board (Consejo Oleícola Internacional), Comunidad Autónoma de Madrid, Fundación Pedro Barrié de la Maza, and Fundación Eugenio Rodríguez Pascual.

Anthropometry↗
PubMed2002

Analysis of -631 and -475 interleukin-2 promoter single nucleotide polymorphisms in multiple sclerosis.

We have analysed the interleukin-2 (IL-2) promoter single nucleotide polymorphisms -475 A/T and -631 G/A, relative to the initiation codon, in patients with multiple sclerosis (MS) and in healthy controls. Both groups showed a very low frequency of T at -475 and A at -631. Our results suggest that these polymorphisms do not contribute to MS susceptibility.

Genetic Predisposition to Disease↗
PubMed2002

Quality of life in multiple sclerosis patients in Spain.

OBJECTIVE: The cross-sectional study evaluated the psychometric properties of the Functional Assessment of Multiple Sclerosis (FAMS) Spanish version and its use in measuring quality of life (QOL) of multiple sclerosis (MS) patients in Spain. METHODS: The FAMS is a factorially derived self-report scale designed to assess six primary aspects of QOL of patients with MS: Mobility, Symptoms, Emotional Well-Being, General Contentment, Thinking and Fatigue, and Family/Social Well-Being. Its Spanish translated version was used to assess QOL of 625 MS patients recruited in an outpatient clinic setting from 58 hospitals in Spain. Internal consistency of the Spanish FAMS was evaluated Multiple regression analyses were performed to identify significant predictors from demographic, clinical and treatment characteristics, and Kurtzke Expanded Disability Status Scale (EDSS) scores in predicting FAMS scale scores. RESULTS: Most of the patients are females (66%), and 74% were of the relapsing-remitting (RR) clinical subtype. Cronbach's alpha coefficients were high (range=0.78-0.96), indicating subscale homogeneity comparable to that of the original English version. Linear multivariate regression analyses revealed that the EDSS is a dominant variable in predicting all the FAMS subscales, especially mobility (R2=0.51) and the total scores. CONCLUSIONS: The Spanish FAMS is a psychometrically valid instrument that allows clinicians and clinical researchers the ability to measure the QOL concerns of MS patients in Spain.

Adult↗
PubMed2001

Laparoscopic pericystectomy for liver hydatid cysts.

BACKGROUND: The laparoscopic approach for managing of liver echinococcosis is a controversial issue because of scarce experience worldwide. The aim of this report is to describe the technical details of our laparoscopic method and present our results. METHODS: Consecutive cases of liver echinococcosis managed by laparoscopic surgery are reported. Thoracic x-ray and abdominal ultrasound had been performed previously. The following aspects were considered as selection criteria: unique cyst located in segments III, IV, V, VI, and VIII; diameter less than 7 cm; and no evidence of infection or calcification. An evacuating puncture was performed, germinative membrane removed, and pericystectomy performed, which extirpated the pericystic structure with the surrounding liver parenchyma. Specimens were removed in a plastic bag through one of the ports. Surgical morbidity, hospital stay, time until return to work, and evidences of hydatid recurrence were measured. RESULTS: Surgery was performed on eight patients (5 women and 3 men) with a mean age of 44.9 years (range, 22-83 years) who had a liver hydatid cyst with a mean diameter of 6.6 cm (range, 5-7 cm). During a mean follow-up period of 30 months (range, 23-44 months), no morbidity or hydatid recurrence were verified. Hospital stay was 2 days in all cases, and return to work was within 15 days. CONCLUSION: This laparoscopic technique, applied with selective criteria, can be a useful alternative for treating patients with liver hydatidosis because its results are comparable with those for open surgery studies involving similar follow-up time.

Adult↗
PubMed2001

The -174/-597 promoter polymorphisms in the interleukin-6 gene are not associated with susceptibility to multiple sclerosis.

Interleukin-6 (IL-6) has been implicated in the etiology of experimental autoimmune encephalomyelitis (EAE) in transgenic animals and contributes to neuropathology in humans. A single nucleotide polymorphism (SNP) at position -174 in the IL-6 gene promoter (IL-6pr) appears to influence IL-6 expression. Complete linkage disequilibrium was observed between the -174 and the -597 alleles. The aim of this study was to investigate the possible influence of -174/-597 IL-6pr polymorphisms on susceptibility to multiple sclerosis (MS). Genotyping of the -597 variant was performed by an RFLP method in 131 MS patients [88 relapsing-remitting (RR-MS), 43 secondary progressive (SP-MS)] and 157 healthy subjects. No differences were found between MS patients and controls with respect to the distribution of -597 IL-6pr genotypes. Neither was found when genotypes were analyzed according to the clinical course of the disease (RR-MS or SP-MS). Future studies focusing on complex transcriptional interactions between the IL-6pr and 3' flanking region polymorphic sites will be necessary to determine the IL-6 haplotype influence on susceptibility to MS.

Adult↗
PubMed2001

Allelic expression and interleukin-2 polymorphisms in multiple sclerosis.

We have investigated the association of two single nucleotide polymorphisms (SNPs) at positions -384 and 114 in the human interleukin-2 (hIL-2) with multiple sclerosis (MS). For two of the -384 genotypes (G/T, T/T), we observed an association with the susceptibility to secondary progressive (SP) course of MS (P=0.005 and P=0.013, respectively). Expression level differences of the IL-2 alleles (between one- and three-fold) were not attributable to the -384 promoter polymorphism. These data indicate for the first time the relevance of the il-2 gene locus in human MS and its possible involvement in other autoimmune diseases.

Age of Onset↗