42 research outputs found
Design of a case management model for people with chronic disease (Heart Failure and COPD). Phase I: modeling and identification of the main components of the intervention through their actors: patients and professionals (DELTA-ICE-PRO Study
Background
Chronic diseases account for nearly 60% of deaths around the world. The extent of this silent epidemic has not met determined responses in governments, policies or professionals in order to transform old Health Care Systems, configured for acute diseases. There is a large list of research about alternative models for people with chronic conditions, many of them with an advanced practice nurse as a key provider, as case management. But some methodological concerns raise, above all, the design of the intervention (intensity, frequency, components, etc).
Methods/Design
Objectives: General: To develop the first and second phases (theorization and modeling) for designing a multifaceted case-management intervention in people with chronic conditions (COPD and heart failure) and their caregivers. Specific aims: 1) To identify key events in people living with chronic disease and their relation with the Health Care System, from their point of view. 2) To know the coping mechanisms developed by patients and their caregivers along the story with the disease. 3) To know the information processing and its utilization in their interactions with health care providers. 4) To detect potential unmet needs and the ways deployed by patients and their caregivers to resolve them. 5) To obtain a description from patients and caregivers, about their itineraries along the Health Care System, in terms of continuity, accessibility and comprehensiveness of care. 6) To build up a list of promising case-management interventions in patients with Heart Failure and COPD with this information in order to frame it into theoretical models for its reproducibility and conceptualization. 7) To undergo this list to expert judgment to assess its feasibility and pertinence in the Andalusian Health Care. Design: Qualitative research with two phases: For the first five objectives, a qualitative technique with biographic stories will be developed and, for the remaining objectives, an expert consensus through Delphi technique, on the possible interventions yielded from the first phase. The study will be developed in the provinces of AlmerĂa, MĂĄlaga and Granada in the Southern Spain, from patients included in the Andalusian Health Care Service database with the diagnosis of COPD or Heart Failure, with the collaboration of case manager nurses and general practitioners for the assessment of their suitability to inclusion criteria. Patients and caregivers will be interviewed in their homes or their Health Centers, with their family or their case manager nurse as mediator.
Discussion
First of a series of studies intended to design a case-management service for people with heart failure and COPD, in the Andalusian Health Care System, where case management has been implemented since 2002. Accordingly with the steps of a theoretical model for complex interventions, in this study, theorization and intervention modeling phases will be developed.This research was carried out with the support of one research grant, awarded by the Regional Health Ministry of Andalusia (Exp. 0222/2008
SHARDS: A global view of the star formation activity at z~0.84 and z~1.23
In this paper, we present a comprehensive analysis of star-forming galaxies
(SFGs) at intermediate redshifts (z~1). We combine the ultra-deep optical
spectro-photometric data from the Survey for High-z Absorption Red and Dead
Sources (SHARDS) with deep UV-to-FIR observations in the GOODS-N field.
Exploiting two of the 25 SHARDS medium-band filters, F687W17 and F823W17, we
select [OII] emission line galaxies at z~0.84 and z~1.23 and characterize their
physical properties. Their rest-frame equivalent widths
(EW([OII])), line fluxes, luminosities, star formation rates
(SFRs) and dust attenuation properties are investigated. The evolution of the
EW([OII]) closely follows the SFR density evolution of the
universe, with a trend of EW([OII])(1+z) up to
redshift z~1, followed by a possible flattening. The SF properties of the
galaxies selected on the basis of their [OII] emission are compared with
complementary samples of SFGs selected by their MIR and FIR emission, and also
with a general mass-selected sample of galaxies at the same redshifts. We
demonstrate observationally that the UVJ diagram (or, similarly, a cut in the
specific SFR) is only partially able to distinguish the quiescent galaxies from
the SFGs. The SFR-M relation is investigated for the different samples,
yelding a logarithmic slope ~1, in good agreement with previous results. The
dust attenuations derived from different SFR indicators (UV(1600), UV(2800),
[OII], IR) are compared and show clear trends with respect to both the stellar
mass and total SFR, with more massive and highly star-forming galaxies being
affected by stronger dust attenuation.Comment: Replaced to match the accepted version (24 pages, 1 table, 17
figures). Published in ApJ, 812, 155 (2015):
http://stacks.iop.org/0004-637X/812/15
Application of a Pharmacogenetics-Based Precision Medicine Model (5SPM) to Psychotic Patients That Presented Poor Response to Neuroleptic Therapy
[EN] Antipsychotics are the keystone of the treatment of severe and prolonged mental disorders. However, there are many risks associated with these drugs and not all patients undergo full therapeutic profit from them. The application of the 5 Step Precision Medicine model(5SPM), based on the analysis of the pharmacogenetic profile of each patient, could be a helpful tool to solve many of the problematics traditionally associated with the neuroleptic treatment. In order to solve this question, a cohort of psychotic patients that showed poor clinical evolution was analyzed. After evaluating the relationship between the prescribed treatment and pharmacogenetic profile of each patient, a great number of pharmacological interactions and pharmacogenetical conflicts were found. After reconsidering the treatment of the conflictive cases, patients showed a substantial reduction on mean daily doses and polytherapy cases, which may cause less risk of adverse effects, greater adherence, and a reduction on economic costs
Impact of somatic and germline mutations on the outcome of systemic mastocytosis
[EN]Systemic mastocytosis (SM) is a highly heterogeneous disease with indolent and aggressive forms, with the mechanisms leading to malignant transformation still remaining to be elucidated. Here, we investigated the presence and frequency of genetic variants in 34 SM patients with multilineal KIT D816V mutations. Initial screening was performed by targeted sequencing of 410 genes in DNA extracted from purified bone marrow cells and hair from 12 patients with nonadvanced SM and 8 patients with advanced SM, followed by whole-genome sequencing (WGS) in 4 cases. Somatic mutations were further investigated in another 14 patients with advanced SM. Despite the fact that no common mutation other than KIT D816V was found in WGS analyses, targeted next-generation sequencing identified 67 nonsynonymous genetic variants involving 39 genes. Half of the mutations were somatic (mostly multilineal), whereas the other half were germline variants. The presence of â„1 multilineal somatic mutation involving genes other than KIT D816V, â„3 germline variants, and â„1 multilineal mutation in the SRSF2, ASXL1, RUNX1, and/or EZH2 genes (S/A/R/E genes), in addition to skin lesions, splenomegaly, thrombocytopenia, low hemoglobin levels, and increased alkaline phosphatase and ÎČ2-microglobulin serum levels, were associated with a poorer patient outcome. However, the presence of â„1 multilineal mutation, particularly involving S/A/R/E genes, was the only independent predictor for progression-free survival and overall survival in our cohort
CSVS, a crowdsourcing database of the Spanish population genetic variability
The knowledge of the genetic variability of the local
population is of utmost importance in personalized
medicine and has been revealed as a critical
factor for the discovery of new disease variants.
Here, we present the Collaborative Spanish
Variability Server (CSVS), which currently contains
more than 2000 genomes and exomes of unrelated Spanish individuals. This database has been generated
in a collaborative crowdsourcing effort collecting
sequencing data produced by local genomic
projects and for other purposes. Sequences have
been grouped by ICD10 upper categories. A web interface
allows querying the database removing one
or more ICD10 categories. In this way, aggregated
counts of allele frequencies of the pseudo-control
Spanish population can be obtained for diseases belonging
to the category removed. Interestingly, in addition
to pseudo-control studies, some population
studies can be made, as, for example, prevalence of
pharmacogenomic variants, etc. In addition, this genomic
data has been used to define the first Spanish
Genome Reference Panel (SGRP1.0) for imputation.
This is the first local repository of variability entirely
produced by a crowdsourcing effort and constitutes
an example for future initiatives to characterize local
variabilityworldwide. CSVS is also part of the GA4GH
Beacon network.Spanish Ministry of Economy and Competitiveness
SAF2017-88908-R
PT17/0009/0006
PI19/00321
CIBERER ACCI-06/07/0036
PI14-948
PI171659Regional Government of Madrid, RAREGenomicsCM
B2017/BMD3721
B2017/BMD-3721European Union (EU)European Union (EU)
676559University Chair UAM-IIS-FJD of Genomic MedicineRamon Areces Foundatio
Impact of late presentation of HIV infection on short-, mid- and long-term mortality and causes of death in a multicenter national cohort: 2004â2013
SummaryObjectivesTo analyze the impact of late presentation (LP) on overall mortality and causes of death and describe LP trends and risk factors (2004â2013).MethodsCox models and logistic regression were used to analyze data from a nation-wide cohort in Spain. LP is defined as being diagnosed when CD4 < 350 cells/ml or AIDS.ResultsOf 7165 new HIV diagnoses, 46.9% (CI95%:45.7â48.0) were LP, 240 patients died.First-year mortality was the highest (aHRLP.vs.nLP = 10.3[CI95%:5.5â19.3]); between 1 and 4 years post-diagnosis, aHRLP.vs.nLP = 1.9(1.2â3.0); and >4 years, aHRLP.vs.nLP = 1.5(0.7â3.1).First-year's main cause of death was HIV/AIDS (73%); and malignancies among those surviving >4 years (32%). HIV/AIDS-related deaths were more likely in LP (59.2% vs. 25.0%; p < 0.001). LP declined from 55.9% (2004â05) to 39.4% (2012â13), and reduced in 46.1% in men who have sex with men (MSM) and 37.6% in heterosexual men, but increased in 22.6% in heterosexual women.Factors associated with LP: sex (ORMEN.vs.WOMEN = 1.4[1.2â1.7]); age (OR31â40.vs.<30 = 1.6[1.4â1.8], OR41â50.vs.<30 = 2.2[1.8â2.6], OR>50.vs.<30 = 3.6[2.9â4.4]); behavior (ORInjectedDrugUse.vs.MSM = 2.8[2.0â3.8]; ORHeterosexual.vs.MSM = 2.2[1.7â3.0]); education (ORPrimaryEducation.vs.University = 1.5[1.1â2.0], ORLowerSecondary.vs.University = 1.3[1.1â1.5]); and geographical origin (ORSub-Saharan.vs.Spain = 1.6[1.3â2.0], ORLatin-American.vs.Spain = 1.4[1.2â1.8]).ConclusionsLP is associated with higher mortality, especially short-term- and HIV/AIDS-related mortality. Mid-term-, but not long-term mortality, remained also higher in LP than nLP. LP decreased in MSM and heterosexual men, not in heterosexual women. The groups most affected by LP are low educated, non-Spanish and heterosexual women
Dietary diversity and nutritional adequacy among an older Spanish population with metabolic syndrome in the PREDIMED-Plus study: a cross-sectional analysis
Dietary guidelines emphasize the importance of a varied diet to provide an adequate nutrient intake. However, an older age is often associated with consumption of monotonous diets that can be nutritionally inadequate, increasing the risk for the development or progression of diet-related chronic diseases, such as metabolic syndrome (MetS). To assess the association between dietary diversity (DD) and nutrient intake adequacy and to identify demographic variables associated with DD, we cross-sectionally analyzed baseline data from the PREDIMED-Plus trial: 6587 Spanish adults aged 55-75 years, with overweight/obesity who also had MetS. An energy-adjusted dietary diversity score (DDS) was calculated using a 143-item validated semi-quantitative food frequency questionnaire (FFQ). Nutrient inadequacy was defined as an intake below 2/3 of the dietary reference intake (DRI) forat least four of 17 nutrients proposed by the Institute of Medicine (IOM). Logistic regression models were used to evaluate the association between DDS and the risk of nutritionally inadequate intakes. In the higher DDS quartile there were more women and less current smokers. Compared with subjects in the highest DDS quartile, those in the lowest DDS quartile had a higher risk of inadequate nutrient intake: odds ratio (OR) = 28.56 (95% confidence interval (CI) 20.80-39.21). When we estimated food varietyfor each of the food groups, participants in the lowest quartile had a higher risk of inadequate nutrient intake for the groups of vegetables, OR = 14.03 (95% CI 10.55-18.65), fruits OR = 11.62 (95% CI 6.81-19.81), dairy products OR = 6.54 (95% CI 4.64-9.22) and protein foods OR = 6.60 (95% CI 1.96-22.24). As DDS decreased, the risk of inadequate nutrients intake rose. Given the impact of nutrient intake adequacy on the prevention of non-communicable diseases, health policies should focus on the promotion of a healthy varied diet, specifically promoting the intake of vegetables and fruit among population groups with lower DDS such as men, smokers or widow(er)s
Single nucleotide polymorphisms in DNA repair genes as risk factors associated to prostate cancer progression
Background
Besides serum levels of PSA, there is a lack of prostate cancer specific biomarkers. It is need to develop new biological markers associated with the tumor behavior which would be valuable to better individualize treatment. The aim of this study was to elucidate the relationship between single nucleotide polymorphisms (SNPs) in genes involved in DNA repair and prostate cancer progression.Methods
A total of 494 prostate cancer patients from a Spanish multicenter study were genotyped for 10 SNPs in XRCC1, ERCC2, ERCC1, LIG4, ATM and TP53 genes. The SNP genotyping was made in a Biotrove OpenArrayÂź NT Cycler. Clinical tumor stage, diagnostic PSA serum levels, and Gleason score at diagnosis were obtained for all participants. Genotypic and allelic frequencies were determined using the web-based environment SNPator.Results
SNPs rs11615 (ERCC1) and rs17503908 (ATM) appeared as risk factors for prostate cancer aggressiveness. Patients wild homozygous for these SNPs (AA and TT, respectively) were at higher risk for developing cT2b â cT4 (ORâ=â2.21 (confidence interval (CI) 95% 1.47 â 3.31), pâ<â0.001) and Gleason scoresââ„â7 (ORâ=â2.22 (CI 95% 1.38 â 3.57), pâ<â0.001), respectively. Moreover, those patients wild homozygous for both SNPs had the greatest risk of presenting DâAmico high-risk tumors (ORâ=â2.57 (CI 95% 1.28 â 5.16)).Conclusions
Genetic variants at DNA repair genes are associated with prostate cancer progression, and would be taken into account when assessing the malignancy of prostate cancer.This work was subsidized by a grant from the Instituto de Salud Carlos III (Ministerio de EconomĂa y Competitividad from Spain), ID: PI12/01867. Almudena Valenciano has a grant from the Instituto Canario de InvestigaciĂłn del CĂĄncer (ICIC)