Donostia / San Sebastián, Spain
Donostia / San Sebastián, Spain

Time filter

Source Type

Swaminathan B.,University of the Basque Country | Matesanz F.,Institute Parasitologia y Biomedicina Lopez Neyra | Cavanillas M.L.,Hospital Clinico S Carlos | Alloza I.,University of the Basque Country | And 12 more authors.
Journal of Neuroimmunology | Year: 2010

A recent meta-analysis of genome-wide association screens coupled to a replication exercise in a combined US/UK collection led to the identification of 4 single nucleotide polymorphisms (SNPs) in three gene loci, i.e. TNFRSF1A, CD6 and IRF8, as novel risk factors for multiple sclerosis with genome-wide level of significance. In the present study, using a combined all-Spain collection of 2515 MS patients and 2942 healthy controls, we demonstrate significant association of rs17824933 in CD6 (P CMH=0.004; OR=1.14; 95% CI 1.04-1.24) and of rs1860545 in TNFRSF1A (P CMH=0.001; OR=1.15; 95% CI 1.06-1.25) with MS, while the low-frequency coding non-synonymous SNP rs4149584 in TNFRSF1A displayed a trend for association (P CMH=0.062; OR=1.27; 95% CI 0.99-1.63). This data reinforce a generic role for CD6 and TNFRSF1A in susceptibility to MS, extending to populations of southern European ancestry. © 2010 Elsevier B.V.


Velasco D.,Institute Investigacion Sanitaria BIODONOSTIA | Arranz E.,Institute Investigacion Sanitaria BIODONOSTIA | Aranbarri A.,Institute Investigacion Sanitaria BIODONOSTIA | Fano E.,Institute Investigacion Sanitaria BIODONOSTIA | And 2 more authors.
Gaceta Sanitaria | Year: 2014

Objectives: To analyze the factorial structure of a new instrument to assess the quality of the family context (Etxadi-Gangoiti Scale) in a sample from the Gipuzkoa cohort of the Environment and Childhood (Infancia y Medio Ambiente [INMA]) study. Methods: Families in a sample of 433 two-year-old children were assessed in a home visit with subsequent analysis of the factorial structure and psychometric properties of the data. Results: An exploratory factorial analysis (principal axis factoring and varimax rotation) and a confirmatory factorial analysis were carried out; partial confirmation of the original factorial structure of the instrument was obtained, which revealed the following factorial structures. Subscale (1): promotion of cognitive and linguistic development, social skills, psychomotor skills, and pretend play and imitation; subscale (2): promotion of independence and self-esteem, provision of optimal frustration, social and emotional quality of the relationship, and absence of physical punishment; subscale (3): paternal involvement, low exposure to family conflict, low frequency of family conflict, relationship with the extended family, social support, diversity of experiences, low frequency of stressful events, and low parental perception of stress. Discussion: The structure of the original instrument structure was partially confirmed, which was attributed to the characteristics of the sample. We stress the importance of the variability obtained in the evaluation of the families, as well as of adequate indicators of reliability in such evaluation. The new instrument could be used in public health to identify deficient family contexts and to design preventive interventions focused on parenting skills. © 2013 SESPAS.


Vandenbroeck K.,University of the Basque Country | Vandenbroeck K.,Ikerbasque | Alloza I.,University of the Basque Country | Swaminathan B.,University of the Basque Country | And 11 more authors.
Genes and Immunity | Year: 2011

In recent reports, IRF5 polymorphisms showed significant association with multiple sclerosis (MS) susceptibility in three studied populations and Irf5-deficient mice exhibited an increased susceptibility to viral infection, linked to a significant decrease in the induction of serum type I interferon (IFN). In the present study, we evaluated the association of two IRF5 polymorphisms with MS predisposition and we also addressed whether these polymorphisms were associated with active replication of human herpes virus-6 (HHV-6) observed in a subgroup of MS patients, and/or with response to IFN-β therapy. A total of 1494 MS patients and 1506 ethnically matched controls were genotyped for rs4728142 and rs3807306 with TaqMan pre-designed assays. One hundred and six patients were classified as responders to IFN-β therapy (no relapses/increases in EDSS over the 2-year follow-up) and 112 as non-responders (at least two relapses or an increase in expanded disability status scale (EDSS) of at least one point during the same period). The combined analysis of available datasets yielded an effect size on MS with odds ratio (OR) MantelHaenszel 1.14 (P<0.002) for the IRF5 polymorphisms rs4728142 and rs3807306. Additionally, trends for association were observed between rs3807306T and infection with HHV-6 p0.05, OR (95% CI)1.56 (1.00-2.44) and response to IFN-β therapy P0.09, OR (95% CI)1.39 (0.95-2.05). © 2011 Macmillan Publishers Limited All rights reserved.


PubMed | Institute Investigacion Sanitaria Biodonostia
Type: | Journal: BMC geriatrics | Year: 2016

Self-perceived health (SPH) is a powerful indicator of the health status of elderly people. This issue has been widely studied in oldest populations considering altogether functionally independent and dependent individuals. The objective of this study was to describe SPH and to identify the main factors that have an impact on SPH in a sample of functionally independent community-dwelling older adults.For this cross-sectional study, face-to-face interviews were carried out with non-institutionalized functionally independent older individuals in a northern region of Spain. Participants were asked: Overall, you would say that your health is excellent, very good, good, fair or poor?. SPH responses were grouped in two categories: good and poor. Binary logistic regression was used to identify factors associated with poor SPH.A sample of 634 individuals was studied, of whom 55 % were women. The mean age was 74.8 (SD 6.7) years. About 18 % of the respondents rated their health as poor. In the multivariate model adjusted for age and sex, reported poor health was significantly associated with polypharmacy (3 drugs per day) (OR: 5.76, 95 % CI: 3.60-9.18), the presence of sensory impairment (OR: 1.87, 95 % CI: 1.15-3.04), bad sleep quality (OR:1.82, 95 % CI: 1.02-3.28), a bad nutrition pattern (OR: 2.37, 95 % CI: 1.08-5.21), not engaging in cognitively stimulating activities (OR: 4.08, 95 % CI: 1.64-10.20), or group social activities (OR: 2.62, 95 % CI: 1.63-4.23).The study indicates that several health and social variables are strongly related to SPH in independent community-dwelling older adults. This finding highlights the need for thorough assessment of factors related to SPH in older independent adults, this being essential to develop health-related programmes for promoting active and healthy ageing and to delay the onset of dependence in this population.


PubMed | Institute Investigacion Sanitaria BIODONOSTIA and CIBER ISCIII
Type: Journal Article | Journal: Gaceta sanitaria | Year: 2014

To analyze the factorial structure of a new instrument to assess the quality of the family context (Etxadi-Gangoiti Scale) in a sample from the Gipuzkoa cohort of the Environment and Childhood (Infancia y Medio Ambiente [INMA]) study.Families in a sample of 433 two-year-old children were assessed in a home visit with subsequent analysis of the factorial structure and psychometric properties of the data.An exploratory factorial analysis (principal axis factoring and varimax rotation) and a confirmatory factorial analysis were carried out; partial confirmation of the original factorial structure of the instrument was obtained, which revealed the following factorial structures. Subscale (1): promotion of cognitive and linguistic development, social skills, psychomotor skills, and pretend play and imitation; subscale (2): promotion of independence and self-esteem, provision of optimal frustration, social and emotional quality of the relationship, and absence of physical punishment; subscale (3): paternal involvement, low exposure to family conflict, low frequency of family conflict, relationship with the extended family, social support, diversity of experiences, low frequency of stressful events, and low parental perception of stress.The structure of the original instrument structure was partially confirmed, which was attributed to the characteristics of the sample. We stress the importance of the variability obtained in the evaluation of the families, as well as of adequate indicators of reliability in such evaluation. The new instrument could be used in public health to identify deficient family contexts and to design preventive interventions focused on parenting skills.


PubMed | University Institute of Health Sciences, French Institute of Health and Medical Research, Complejo Hospitalario Of Navarra and Institute Investigacion Sanitaria Biodonostia
Type: Journal Article | Journal: Revista espanola de geriatria y gerontologia | Year: 2016

The main objective of the present work is to evaluate the feasibility of harmonising the available information from different independent databases, in order to build an integrated database to study frailty.This work is based on the European project, Integral Approach to the Transition between Frailty and Dependence on older adults: Patterns of occurrence, identification tools and model of care (INTAFRADE), developed by 4 groups, 3 in Spain and one in France. Each partner provided their databases related to the study of frailty. As a previous step to the creation of an integrated database the characteristics and variables included in each study were mapped, specifying whether their harmonisation was possible or not.A total of 30 different variables that corresponded to 8 dimensions were identified: Sociodemographic and social characteristics, health status, lifestyle habits, anthropometric measures, other physical measurements, use of health services, and adverse health results. Of them all, 28 (93%) variables were harmonisable, although only 20% were present in all databases, with 47% in 3 of them. In relation to the frailty instruments, all of them were lacking at least 50% of the items. The harmonisation process will allow us to jointly analyse information available on 2,361 people.The European INTAFRADE study will allow a deeper understanding of the frailty process in older people by harmonising information from heterogeneous databases.


Alcina A.,Institute Parasitologia y Biomedicina Lopez Neyra | Vandenbroeck K.,University of the Basque Country | Vandenbroeck K.,Ikerbasque | Otaegui D.,Institute Investigacion Sanitaria Biodonostia | And 18 more authors.
Genes and Immunity | Year: 2010

Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in KIF5A (P0.001, odds ratio (OR)1.13, 95% confidence interval (CI)1.05-1.23); rs3184504 in SH2B3 (P0.00001, OR1.19, 95% CI1.10-1.27) and rs763361 in CD226 (P0.00007, OR1.16, 95%CI1.08-1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The SH2B3 polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders. © 2010 Macmillan Publishers Limited All rights reserved.


Alzualde A.,Institute Investigacion Sanitaria BioDonostia | Indakoetxea B.,Hospital Donostia | Ferrer I.,University of Barcelona | Ferrer I.,CIBER ISCIII | And 14 more authors.
Journal of Neuropathology and Experimental Neurology | Year: 2010

Gerstmann-Sträussler-Scheinker (GSS) disease is a prion disease associated with prion protein gene (PRNP) mutations. We report a novel PRNP mutation (Y218N) associated with GSS disease in a pathologically confirmed case and in two other affected family members. The clinical features of these cases met criteria for possible Alzheimer disease and possible frontotemporal dementia. Neuropathologic analysis revealed deposition of proteinase K-resistant prion protein (PrP), widespread hyperphosphorylated tau pathology, abnormal accumulation of mitochondria in the vicinity of PrP deposits, and expression of mutant ubiquitin (UBB) in neurofibrillary tangles and dystrophic neurites. Prion protein immunoblotting using 3F4 and 1E4 antibodies disclosed multiple bands ranging from approximately 20 kd to 80 kd and lower bands of 15 kd and approximately 10 kd, the latter only seen after a long incubation. These bands were partially resistant to proteinase K pretreatment. This pattern differs from those seen in Creutzfeldt-Jakob disease andresembles those reported in other GSS cases. The approximately 10kd band was recognized with anti-PrP C-terminus antibodies but not with anti-N terminus antibodies, suggesting PrP truncation at the N terminal. This new mutation extends the list of known mutations responsible for GSS disease and reinforces its clinical heterogeneity. Genetic examination of the PRNP gene should be included in the workup of patients with poorly classifiable dementia. © 2010 American Association of Neuropathologists, Inc.


Vergara I.,Institute Investigacion Sanitaria Biodonostia | Vrotsou K.,Institute Investigacion Sanitaria Biodonostia | Orive M.,Hospital Galdakao Usansolo | Garcia-Gutierrez S.,Hospital Galdakao Usansolo | And 3 more authors.
BMC Geriatrics | Year: 2016

Background: Wrist fractures are the most common arm fractures in older adults. The impact of wrist fractures on daily functionality has been less studied than that of other types and so, less is known about the complexity of factors related to the functional impact of these fractures. This study is aimed to assess the role of individual and health care factors and its association with daily living functional changes after a wrist fracture. Methods: A prospective cohort of patients aged 65 or more, affected by a fracture due to a fall, was conducted. These patients were identified at the emergency rooms of the six participating hospitals. As independent factors, the following were studied: socio-demographic data, characteristics of the fracture, health-related quality of life, wrist function and provided treatment. The main outcome was functional status measured by the Barthel Index for daily living basic activities and the Lawton Instrumental Activities of Daily Living (IADL) Scale for daily living instrumental activities. Data were collected at baseline just after the fall and after six months of follow-up. Patients were considered to have deteriorated if their functional status as measured by Barthel Index or Lawton IADL scores decreased in a significant way during the six months of follow up. Results: Barthel Index and/or Lawton IADL scores fell at six months after the fracture in 33 % of participants. This functional decline was more frequent in patients with comorbidity (p < 0.0001), polypharmacy (p < 0.0001), low health-related quality of life prior to the fall (p < 0.0001) and lower educational level (p = 0.009). The derived multivariate models show that patients that become dependent six months after the fall, have advanced age, severe chronic diseases, low functional performance prior to the fracture, and repeated episodes of accidental falls. This profile is consistent with a frailty phenotype. Conclusions: Wrist fractures are associated to the occurrence of dependence, especially in frail patients. These patients could benefit from being identified at the time the fracture is treated, in order to tackle their complex needs and so, prevent some of the burden of dependence generated by these fractures. © 2016 Vergara et al.

Loading Institute Investigacion Sanitaria BIODONOSTIA collaborators
Loading Institute Investigacion Sanitaria BIODONOSTIA collaborators