Instituto Biodonostia

Donostia / San Sebastián, Spain

Instituto Biodonostia

Donostia / San Sebastián, Spain

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Orueta J.F.,Basque Health Service | Orueta J.F.,Basque Institute for Healthcare Innovation | Nuno-Solinis R.,Basque Institute for Healthcare Innovation | Mateos M.,Basque Institute for Healthcare Innovation | And 2 more authors.
BMC Health Services Research | Year: 2012

Background: Chronic diseases are an increasing threat to people's health and to the sustainability of health organisations. Despite the need for routine monitoring systems to assess the impact of chronicity in the population and its evolution over time, currently no single source of information has been identified as suitable for this purpose. Our objective was to describe the prevalence of various chronic conditions estimated using routine data recorded by health professionals: diagnoses on hospital discharge abstracts, and primary care prescriptions and diagnoses. Methods. The ICD-9-CM codes for diagnoses and Anatomical Therapeutic Chemical (ATC) codes for prescriptions were collected for all patients in the Basque Country over 14 years of age (n=1,964,337) for a 12-month period. We employed a range of different inputs: hospital diagnoses, primary care diagnoses, primary care prescriptions and combinations thereof. Data were collapsed into the morbidity groups specified by the Johns Hopkins Adjusted Clinical Groups (ACGs) Case-Mix System. We estimated the prevalence of 12 chronic conditions, comparing the results obtained using the different data sources with each other and also with those of the Basque Health Interview Survey (ESCAV). Using the different combinations of inputs, Standardized Morbidity Ratios (SMRs) for the considered diseases were calculated for the list of patients of each general practitioner. The variances of the SMRs were used as a measure of the dispersion of the data and were compared using the Brown-Forsythe test. Results: The prevalences calculated using prescription data were higher than those obtained from diagnoses and those from the ESCAV, with two exceptions: malignant neoplasm and migraine. The variances of the SMRs obtained from the combination of all the data sources (hospital diagnoses, and primary care prescriptions and diagnoses) were significantly lower than those using only diagnoses. Conclusions: The estimated prevalence of chronic diseases varies considerably depending of the source(s) of information used. Given that administrative databases compile data registered for other purposes, the estimations obtained must be considered with caution. In a context of increasingly widespread computerisation of patient medical records, the complementary use of a range of sources may be a feasible option for the routine monitoring of the prevalence of chronic diseases. © 2012 Orueta et al.; licensee BioMed Central Ltd.


Anasagasti A.,Instituto Biodonostia | Irigoyen C.,Hospital Universitario Donostia | Barandika O.,Instituto Biodonostia | Lopez de Munain A.,Instituto Biodonostia | And 4 more authors.
Vision Research | Year: 2013

With a worldwide prevalence of about 1 in 3500-5000 individuals, Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration. It is an extremely heterogeneous group of genetically determined retinal diseases leading to progressive loss of vision due to impairment of rod and cone photoreceptors. RP can be inherited as an autosomal-recessive, autosomal-dominant, or X-linked trait. Non-Mendelian inheritance patterns such as digenic, maternal (mitochondrial) or compound heterozygosity have also been reported. To date, more than 65 genes have been implicated in syndromic and non-syndromic forms of RP, which account for only about 60% of all RP cases. Due to this high heterogeneity and diversity of inheritance patterns, the molecular diagnosis of syndromic and non-syndromic RP is very challenging, and the heritability of 40% of total RP cases worldwide remains unknown. However new sequencing methodologies, boosted by the human genome project, have contributed to exponential plummeting in sequencing costs, thereby making it feasible to include molecular testing for RP patients in routine clinical practice within the coming years. Here, we summarize the most widely used state-of-the-art technologies currently applied for the molecular diagnosis of RP, and address their strengths and weaknesses for the molecular diagnosis of such a complex genetic disease. © 2012 Elsevier Ltd.


Anasagasti A.,Instituto Biodonostia | Barandika O.,Instituto Biodonostia | Irigoyen C.,Hospital Universitario Donostia | Benitez B.A.,Washington University in St. Louis | And 7 more authors.
Experimental Eye Research | Year: 2013

Retinitis Pigmentosa (RP) involves a group of genetically determined retinal diseases caused by a large number of mutations that result in rod photoreceptor cell death followed by gradual death of cone cells. Most cases of RP are monogenic, with more than 80 associated genes identified so far. The high number of genes and variants involved in RP, among other factors, is making the molecular characterization of RP a real challenge for many patients. Although HRM has been used for the analysis of isolated variants or single RP genes, as far as we are concerned, this is the first study that uses HRM analysis for a high-throughput screening of several RP genes. Our main goal was to test the suitability of HRM analysis as a genetic screening technique in RP, and to compare its performance with two of the most widely used NGS platforms, Illumina and PGM-Ion Torrent technologies. RP patients ( n=96) were clinically diagnosed at the Ophthalmology Department of Donostia University Hospital, Spain. We analyzed a total of 16 RP genes that meet the following inclusion criteria: 1) size: genes with transcripts of less than 4kb; 2) number of exons: genes with up to 22 exons; and 3) prevalence: genes reported to account for, at least, 0.4% of total RP cases worldwide. For comparison purposes, RHO gene was also sequenced with Illumina (GAII; Illumina), Ion semiconductor technologies (PGM; Life Technologies) and Sanger sequencing (ABI 3130xl platform; Applied Biosystems). Detected variants were confirmed in all cases by Sanger sequencing and tested for co-segregation in the family of affected probands. We identified a total of 65 genetic variants, 15 of which (23%) were novel, in 49 out of 96 patients. Among them, 14 (4 novel) are probable disease-causing genetic variants in 7 RP genes, affecting 15 patients. Our HRM analysis-based study, proved to be a cost-effective and rapid method that provides an accurate identification of genetic RP variants. This approach is effective for medium sized (<4kb transcript) RP genes, which constitute over 80% of the total of known RP genes. © 2013 Elsevier Ltd.


PubMed | Instituto Biodonostia and Area Medica
Type: | Journal: Reumatologia clinica | Year: 2016

The chronic nature of musculoskeletal diseases requires an integrated care which involves the Primary Care and the specialities of Rheumatology, Traumatology and Rehabilitation. The aim of this study was to assess the implementation of an integrated organizational model in osteoporosis, low back pain, shoulder disease and knee disease using Demings continuous improvement process and considering referrals and resource consumption.A simulation model was used in the planning to predict the evolution of musculoskeletal diseases resource consumption and to carry out a Budget Impact Analysis from 2012 to 2020 in the Goierri-Alto Urola region. In the checking stage the status of the process in 2014 was evaluated using statistical analysis to check the degree of achievement of the objectives for each speciality.Simulation models showed that population with musculoskeletal disease in Goierri-Alto Urola will increase a 4.4% by 2020. Because of that, the expenses for a conventional healthcare system will have increased a 5.9%. However, if the intervention reaches its objectives the budget would decrease an 8.5%. The statistical analysis evidenced a decline in referrals to Traumatology service and a reduction of successive consultations in all specialities.The implementation of the integrated organizational model in osteoporosis, low back pain, shoulder disease and knee disease is still at an early stage. However, the empowerment of Primary Care improved patient referrals and reduced the costs.


PubMed | Washington University in St. Louis, Instituto Biodonostia and University of the Basque Country
Type: | Journal: Experimental eye research | Year: 2014

Retinitis Pigmentosa (RP) involves a group of genetically determined retinal diseases caused by a large number of mutations that result in rod photoreceptor cell death followed by gradual death of cone cells. Most cases of RP are monogenic, with more than 80 associated genes identified so far. The high number of genes and variants involved in RP, among other factors, is making the molecular characterization of RP a real challenge for many patients. Although HRM has been used for the analysis of isolated variants or single RP genes, as far as we are concerned, this is the first study that uses HRM analysis for a high-throughput screening of several RP genes. Our main goal was to test the suitability of HRM analysis as a genetic screening technique in RP, and to compare its performance with two of the most widely used NGS platforms, Illumina and PGM-Ion Torrent technologies. RP patients (n=96) were clinically diagnosed at the Ophthalmology Department of Donostia University Hospital, Spain. We analyzed a total of 16 RP genes that meet the following inclusion criteria: 1) size: genes with transcripts of less than 4 kb; 2) number of exons: genes with up to 22 exons; and 3) prevalence: genes reported to account for, at least, 0.4 % of total RP cases worldwide. For comparison purposes, RHO gene was also sequenced with Illumina (GAII; Illumina), Ion semiconductor technologies (PGM; Life Technologies) and Sanger sequencing (ABI 3130xl platform; Applied Biosystems). Detected variants were confirmed in all cases by Sanger sequencing and tested for co-segregation in the family of affected probands. We identified a total of 65 genetic variants, 15 of which (23%) were novel, in 49 out of 96 patients. Among them, 14 (4 novel) are probable disease-causing genetic variants in 7 RP genes, affecting 15 patients. Our HRM analysis-based study, proved to be a cost-effective and rapid method that provides an accurate identification of genetic RP variants. This approach is effective for medium sized (<4 kb transcript) RP genes, which constitute over 80% of the total of known RP genes.


PubMed | Complutense University of Madrid, University of Valencia, Basque Foundation for Science, Instituto Biodonostia and Institute Biomedicina Of Valencia
Type: Journal Article | Journal: Aging | Year: 2016

Centenarians not only enjoy an extraordinary aging, but also show a compression of morbidity. Using functional transcriptomic analysis of peripheral blood mononuclear cells (PMBC) we identified 1721 mRNAs differentially expressed by centenarians when compared with septuagenarians and young people. Sub-network analysis led us to identify Bcl-xL as an important gene up-regulated in centenarians. It is involved in the control of apoptosis, cellular damage protection and also in modulation of immune response, all associated to healthy aging. Indeed, centenarians display lower plasma cytochrome C levels, higher mitochondrial membrane potential and also less cellular damage accumulation than septuagenarians. Leukocyte chemotaxis and NK cell activity are significantly impaired in septuagenarians compared with young people whereas centenarians maintain them. To further ascertain the functional role of Bcl-xL in cellular aging, we found that lymphocytes from septuagenarians transduced with Bcl-xL display a reduction in senescent-related markers. Finally, to demonstrate the role of Bcl-xL in longevity at the organism level,


PubMed | Biodonostia Institute, Red de Investigacion en Servicios de Salud en Enfermedades Cronicas, Distrito de Atencion Primaria Costa del Sol, Toulouse 1 University Capitole and Instituto Biodonostia
Type: Journal Article | Journal: BMC health services research | Year: 2016

In the last few years several indices and tools, aimed at identifying frail subjects in various care settings have been developed. However, to date none of them has been incorporated into usual practice in the primary care setting. The purposes of this study are: 1) to evaluate the predictive capacity of the Tilburg Frailty Indicator (TFI), the Grontople Frailty Screening Tool (GFST) and the KoS model together with two biomarker levels (SOX2 and p16INK4a) for adverse events related to frailty; 2) to determine differences in the use of healthcare services according to frailty.Prospective multicentre cohort study with a 2-year follow-up. The study will be performed in primary care centres of Gipuzkoa and Costa del Sol, both located in Spain. Autonomous, non-institutionalized individuals aged 70 and over that agree to participate in this study will constitute the study population. A total of 900 individuals will be randomly selected from the healthcare administrative data bases of the participating health services. Data will be collected at baseline and at 1 and 2years. The main independent variables assessed at baseline will be TFI outcomes, GFST and the KoS model, together with the expression of SOX2 and p16INK4a levels. During follow-up, loss of autonomy, the occurrence of death and consumption of healthcare resources will be assessed.The main focus of this work is the identification and evaluation of several instruments constructed under different rationales to identify frail subjects in primary care settings. The resulting outcomes have potential for direct application to the primary care practice. Early identification of the onset of functional impairment of elderly is an essential, still unresolved aspect in the prevention of dependence in the scope of primary care.


Jimenez F.,Clinica Dr. Jimenez Acosta | Izeta A.,Instituto Biodonostia | Poblet E.,University of Castilla - La Mancha
Dermatologic Surgery | Year: 2011

Background The bulge stem cell region is a structure important for the regeneration of the pilosebaceous unit. Measurements of the different compartments of a hair follicle may have implications in hair transplantation and hair regeneration studies. Objective To measure the length of the different portions of the occipital scalp hair and to estimate at what depth they are located. METHODS AND MATERIAL Hair follicles from the occipital scalp were obtained from 29 individuals. Measurements were performed on digital pictures using a software imaging system. Antibody anticytokeratin (CK), 15 was used as a bulge stem cell marker. RESULTS The mean length of a scalp hair follicle is 4.16 mm. The infundibulum measures 0.76 mm, the isthmus 0.89 mm, and the inferior portion 2.5 mm. The insertion of the arrector pili muscle is located 1.65 mm deep. CK15 immunoreactivity starts at a depth of 1 mm and extends down to 1.8 mm. CONCLUSION The ideal depth for the trichophytic procedure is to cut the wound edge at a depth of less than 1 mm to avoid the bulge zone. The data provided can serve as an objective anatomical reference in hair regeneration studies using horizontally transected follicles. The authors have indicated no significant interest with commercial supporters. © 2010 by the American Society for Dermatologic Surgery, Inc.


Munoz-Culla M.,Instituto Biodonostia | Irizar H.,Instituto Biodonostia | Otaegui D.,Instituto Biodonostia
Application of Clinical Genetics | Year: 2013

Multiple sclerosis (MS) is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it does not explain the whole heritability of the disease. To find other non-human leukocyte antigen loci associated with the disease, high-throughput genotyping, sequencing, and gene-expression studies have been performed, producing a valuable quantity of information. An overview of the genomic and expression studies is provided in this review, as well as microRNA-expression studies, highlighting the importance of combining all the layers of information in order to elucidate the causes or pathological mechanisms occurring in the disease. Genetics in MS is a promising field that is presumably going to be very productive in the next decade understanding the cross talk between all the factors contributing to the development of MS. © 2013 Muñoz-Culla et al, publisher and licensee Dove Medical Press Ltd.

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