677 research outputs found
A community electrification project: combination of microgrids and household systems fed by wind, PV or micro-hydro energies according to micro-scale resource evaluation and social constraints
When electrifying isolated rural communities, usually standardized solutions have been implemented using the same technology at all the points. However these solutions are not always appropriate to the community and its population. This article aims to describe the technical design of the electrification system of the community of Alto Peru (in the region of Cajamarca, Peru), where the adequate technology was used at each area according to micro-scale resource evaluation and the socioeconomic requirements of the population. Specifically four technologies were implemented: wind microgrids in highlands, a micro-hydro power plant in the presence of a waterfall, a PV microgrid in a group of points sheltered from the wind and individual PV systems in scattered points with low wind potential. This project brought electricity to 58 households, a health center, a school, a church, two restaurants and two shops.Peer ReviewedPostprint (author’s final draft
Improving perception accuracy in bar charts with internal contrast and framing enhancements
Bar charts are among the most commonly used visualization graphs. Their main goal is to communicate quantities that can be visually compared. Since they are easy to produce and interpret, they are found in any situation where quantitative data needs to be conveyed
(websites, newspapers, etc.). However, depending on the layout, the
perceived values can vary substantially. For instance, previous research
has shown that the positioning of bars (e.g. stacked vs separate) may
influence the accuracy in bar ratio length estimation. Other works
have studied the effects of embellishments on the perception of encoded quantities. However, to the best of the authors’ knowledge, the effect of perceptual elements used to reinforce the quantity depicted within the bars, such as contrast and inner lines, has not been studied in depth. In this research we present a study that analyzes the effect of several internal contrast and framing enhancements with respect to the use of basic solid bars. Our results show that the addition of minimal visual elements that are easy to implement with current technology can help users to better recognize the amounts depicted by the bar charts.Peer ReviewedPostprint (author's final draft
MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium
The MAPT H1 haplotype has been linked to several disorders, but its relationship with Alzheimer's disease (AD) remains controversial. A rare variant in MAPT (p.A152T) has been linked with frontotemporal dementia (FTD) and AD. We genotyped H1/H2 and p.A152T MAPT in 11,572 subjects from Spain (4,327 AD, 563 FTD, 648 Parkinson's disease (PD), 84 progressive supranuclear palsy (PSP), and 5,950 healthy controls). Additionally, we included 101 individuals from 21 families with genetic FTD. MAPT p.A152T was borderline significantly associated with FTD [odds ratio (OR)=2.03; p=0.063], but not with AD. MAPT H1 haplotype was associated with AD risk (OR=1.12; p=0.0005). Stratification analysis showed that this association was mainly driven by APOE ε4 noncarriers (OR=1.14; p=0.0025). MAPT H1 was also associated with risk for PD (OR=1.30; p=0.0003) and PSP (OR=3.18; p=8.59 × 10-8) but not FTD. Our results suggest that the MAPT H1 haplotype increases the risk of PD, PSP, and non-APOE ε4 AD.Spanish Ministry of Science and Innovation SAF 2006-10126 (2006–2009) and SAF2010-22329-C02-01 (2011–2013) to P.P and by the UTE project FIMA to P.P. Grants from the Ministry of Science
(SAF2010-15558) and CIBERNED. Agust´ın Ruiz is supported by grant PI13/02434 (Acción Estratégica en Salud. Instituto de Salud Carlos III. Ministerio de Economía y Competitividad, Spain). Grant: Consolider (CSD2010-00045).Peer Reviewe
Sobre els carrers de Castelló de 1928. Nomenclatura Oficial vs Nomenclatura Popular
Terceres Jornades de Foment de la Investigació de la FCHS (Any 1997-1998
Utilidad de las secuencias potenciadas en susceptibilidad paramagnética (SWI) para diferenciar crisis somestésicas de accidentes isquémicos transitorios en un paciente con angiopatía amiloide cerebral
Background. Cerebral amyloid angiopathy (CAA) is
characterized by the deposit of β-amyloid on the walls
of small and medium-sized arteries of the cerebral cortex
and leptomeninges causing cerebral bleeding. Clinical
presentations may include transient neurological
events for which differential diagnosis can be difficult.
Case report. We report a subject with a medical history
of recent stroke who presented somesthetic seizures
mimicking transient ischemic attacks owing to CAA
microbleeding. Antiplatelet treatment was reduced and
after lamotrigine was commenced the episodes disappeared.
Susceptibility-weighted magnetic resonance
imaging was very helpful for diagnosis (SWI-MRI).
Conclusions. CAA microbleeding can be manifested in
the form of seizures mimicking focal transient sensitive
neurological deficits that can be erroneously attributed
to cerebral ischemia. The present case report suggests
that, despite the presence of a past medical history of
strokes, neurologists should consider CAA microbleeding
as a possible cause of pseudo-transient ischemic
attacks. High-resolution neuroimaging including SWIMRI
imaging can be helpful in identifying cortical microbleedings.
In this way, the start or increase of antiplatelet
treatment can be avoided, and the risk of potentially
fatal complications minimize
Memory decline evolves independently of disease activity in MS
The natural history of cognitive impairment in multiple sclerosis
(MS) and its relationship with disease activity is not well known. In this study,
we evaluate a prospective cohort of 44 MS patients who were followed every 3
months for 2 years. Cognitive evaluation was done at baseline and by the end of
the study using the Brief Repeatable Battery-Neuropsychology. Clinical evaluation
included assessment of new relapses and changes in disability (Extended
Disability Status Scale (EDSS)) confirmed at 6 months. RESULTS: We found that
verbal memory performance deteriorates after 2 years in patients with MS. These
changes were observed in stable and active patients both in terms of relapses and
disability progression, even at the beginning of the disease, and in patients
with or without cognitive impairment at study entry. Attention and executive
functions measured with the symbol digit modality test (SDMT) declined after 2
years in patients with confirmed disability progression. Furthermore, SDMT
performance correlated with the EDSS change. CONCLUSIONS: Our findings indicate
that verbal memory steadily declines in patients with MS from the beginning of
the disease and independently of other parameters of disease activity
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer’s disease Ibero-American cohort
INTRODUCTION: Some familial Alzheimer's disease (AD) cases are caused by rare and highly-penetrant mutations in APP, PSEN1, and PSEN2. Mutations in GRN and MAPT, two genes associated with frontotemporal dementia (FTD), have been found in clinically diagnosed AD cases. Due to the dramatic developments in next-generation sequencing (NGS), high-throughput sequencing of targeted genomic regions of the human genome in many individuals in a single run is now cheap and feasible. Recent findings favor the rare variant-common disease hypothesis by which the combination effects of rare variants could explain a large proportion of the heritability. We utilized NGS to identify rare and pathogenic variants in APP, PSEN1, PSEN2, GRN, and MAPT in an Ibero-American cohort. METHODS: We performed pooled-DNA sequencing of each exon and flanking sequences in APP, PSEN1, PSEN2, MAPT and GRN in 167 clinical and 5 autopsy-confirmed AD cases (15 familial early-onset, 136 sporadic early-onset and 16 familial late-onset) from Spain and Uruguay using NGS. Follow-up genotyping was used to validate variants. After genotyping additional controls, we performed segregation and functional analyses to determine the pathogenicity of validated variants. RESULTS: We identified a novel G to T transition (g.38816G>T) in exon 6 of PSEN1 in a sporadic early-onset AD case, resulting in a previously described pathogenic p.L173F mutation. A pathogenic p.L392V mutation in exon 11 was found in one familial early-onset AD case. We also identified a novel CC insertion (g.10974_10975insCC) in exon 8 of GRN, which introduced a premature stop codon, resulting in nonsense-mediated mRNA decay. This GRN mutation was associated with lower GRN plasma levels, as previously reported for other GRN pathogenic mutations. We found two variants in MAPT (p.A152T, p.S318L) present only in three AD cases but not controls, suggesting that these variants could be risk factors for the disease. CONCLUSIONS: We found pathogenic mutations in PSEN1, GRN and MAPT in 2.33% of the screened cases. This study suggests that pathogenic mutations or risk variants in MAPT and in GRN are as frequent in clinical AD cases as mutations in APP, PSEN1 and PSEN2, highlighting that pleiotropy of MAPT or GRN mutations can influence both FTD and AD phenotypic traits
Analysis of the micro-RNA-133 and PITX3 genes in Parkinson´s Disease
MicroRNAs are small RNA sequences that negatively regulate gene expression by binding to the 3´ untranslated regions of mRNAs. MiR-133b has been implicated in Parkinson´s Disease (PD) by a mechanism that involves the regulation of the transcription factor PITX3. The variation in these genes could contribute to the risk of developing PD. We searched for DNA variants in miR-133 and PITX3 genes in PD patients and healthy controls from Spain. We found common DNA variants in the three miR-133 genes. Genotyping of a first set of patients (n=777) and controls (n=650) showed a higher frequency of homozygous for a miR-133b variant (-90 del A) in PD-patients (6/575; 1%) than in healthy controls (0/650) (p=0.03). However, this association was not confirmed in a second set of patients (1/250; 0.4%) and controls (2/210; 1%). No common PITX3 variants were associated with PD, although a rare missense change (G32S) was found in only one patient and none of the controls.
In conclusion, we report the variation in genes of a pathway that has been involved in dopaminergic neuron differentiation and survival. Our work suggests that miR-133 and PITX3 gene variants did not contribute to the risk for PD.This work was supported by grants from the Spanish Fondo de Investigaciones Sanitarias-Fondos FEDER European Union (FIS-05/008 and 08/0915). LDM is a predoctoral fellow of FICYT-Principado de Asturias. AIC is the recipient of a Contrato de Apoyo a la Investigación- Fondo de Investigaciones Sanitarias
IDENTIFICACIÓN DE LOS CRITERIOS DE POSICIONAMIENTO WEB APLICADOS A LAS WEBS UNIVERSITARIAS PÚBLICAS VALENCIANAS
Se realiza un estudio sobre el estado del arte del posicionamiento web en la actualidad, para a continuación investigar la aplicación de dichos criterios por las universidades públicas valencianas, compararlos con su visibilidad y entre las diferentes universidades, para establecer en qué fallan y qué propuestas de mejora serían las más adecuadas.Pastor López, P. (2010). IDENTIFICACIÓN DE LOS CRITERIOS DE POSICIONAMIENTO WEB APLICADOS A LAS WEBS UNIVERSITARIAS PÚBLICAS VALENCIANAS. http://hdl.handle.net/10251/14209Archivo delegad
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