911 research outputs found
Hearing loss and fluctuating hearing levels in X-linked hypophosphataemic osteomalacia
Abstract Background and objective: X-linked hypophosphataemic osteomalacia is the most common of the genetically determined forms of osteomalacia. The occurrence of hearing loss in X-linked hypophosphataemic osteomalacia has been known since 1984. However, observations on the progression of such hearing loss, and suggestions regarding possible therapy, have not previously been published. Methods: Case report of a patient with X-linked hypophosphataemic osteomalacia and hearing loss, with three years' audiological follow up, description of empirical therapy and literature review. Results: The patient presented with fluctuating hearing. An audiogram showed mild to severe sensorineural hearing loss mainly in the low and high frequencies. A temporary improvement of 20-40dB after steroid therapy was observed. Four weeks later, hearing had deteriorated again, mainly in the low frequencies. After one year of fluctuating hearing levels, stabilisation occurred. Conclusions: In X-linked hypophosphataemic osteomalacia, hearing loss occurs predominantly in the low and high frequencies. The hearing loss type and progression pattern point to an endolymphatic hydrops as the pathogenetic mechanism. Steroid therapy may be of some benefi
Document Filtering for Long-tail Entities
Filtering relevant documents with respect to entities is an essential task in
the context of knowledge base construction and maintenance. It entails
processing a time-ordered stream of documents that might be relevant to an
entity in order to select only those that contain vital information.
State-of-the-art approaches to document filtering for popular entities are
entity-dependent: they rely on and are also trained on the specifics of
differentiating features for each specific entity. Moreover, these approaches
tend to use so-called extrinsic information such as Wikipedia page views and
related entities which is typically only available only for popular head
entities. Entity-dependent approaches based on such signals are therefore
ill-suited as filtering methods for long-tail entities. In this paper we
propose a document filtering method for long-tail entities that is
entity-independent and thus also generalizes to unseen or rarely seen entities.
It is based on intrinsic features, i.e., features that are derived from the
documents in which the entities are mentioned. We propose a set of features
that capture informativeness, entity-saliency, and timeliness. In particular,
we introduce features based on entity aspect similarities, relation patterns,
and temporal expressions and combine these with standard features for document
filtering. Experiments following the TREC KBA 2014 setup on a publicly
available dataset show that our model is able to improve the filtering
performance for long-tail entities over several baselines. Results of applying
the model to unseen entities are promising, indicating that the model is able
to learn the general characteristics of a vital document. The overall
performance across all entities---i.e., not just long-tail entities---improves
upon the state-of-the-art without depending on any entity-specific training
data.Comment: CIKM2016, Proceedings of the 25th ACM International Conference on
Information and Knowledge Management. 201
Polychronous Interpretation of Synoptic, a Domain Specific Modeling Language for Embedded Flight-Software
The SPaCIFY project, which aims at bringing advances in MDE to the satellite
flight software industry, advocates a top-down approach built on a
domain-specific modeling language named Synoptic. In line with previous
approaches to real-time modeling such as Statecharts and Simulink, Synoptic
features hierarchical decomposition of application and control modules in
synchronous block diagrams and state machines. Its semantics is described in
the polychronous model of computation, which is that of the synchronous
language Signal.Comment: Workshop on Formal Methods for Aerospace (FMA 2009
In the rescue of iglesia de San José (Puerto Rico):Analysis prior to conservation
[EN] The second oldest church in the New World is located in San Juan, Puerto Rico and has rea-ched a critical state of deterioration requiring both structural and conservation interven-tions to assure its permanence. In 2004 it was placed on the World Monuments Fund List of the 100 Most Endangered Sites in the World. A series of condition surveys by architects, structural engineers, archaeologists, and con-servators carried out extensive documenta-tions and analyses of the temple between the years 2000 and 2012. This article synthesizes the studies, conservation measures and re-commendations done during this time period.[ES] La segunda iglesia mĂĄs antigua en el Nuevo Mundo estĂĄ ubicada en San Juan de Puerto Rico y ha alcanzado un estado crĂtico de deterioro que requiere intervenciones estructurales y de conservaciĂłn para segurar su permanencia. En el 2004 fue incluida en la lista de los â100 Lugares en Mayor Riesgo en el Mundoâ del World Monuments Fund. Arquitectos, ingenieros estructurales, arqueĂłlogos y tĂ©cnicos en conservaciĂłn realizaron una serie de estudios detallados, ademĂĄs de la documentaciĂłn y anĂĄlisis extensiva del templo entre los años 2003-2012. El presente artĂculo sintetiza estas investigaciones, medidas de conservaciĂłn y las recomendaciones efectuadas durante este periodo.Del Cueto, B.; Pantel, AG. (2016). El rescate de la iglesia de San JosĂ© (Puerto Rico): Estudios previos a su restauraciĂłn. Loggia, Arquitectura & RestauraciĂłn. (29):58-73. doi:10.4995/loggia.2016.5147.SWORD58732
Improving estimation and prediction in linear regression incorporating external information from an established reduced model
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/143779/1/sim7600_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/143779/2/sim7600.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/143779/3/sim7600-sup-0001-Supplementary.pd
Urban conservation in Puerto Rico
[EN] The use and abuse of historic towns and cities in Puerto Rico is the subject of constant de-bate due to inadequate interventions and the uncontrolled growth of traditional urban fabric and the metropolis in general. The deficiency of General Plans, the limited effect of fragmentary interventions, the unjustified homogenization of historic zones, the governmental misunders-tanding of fundamental heritage issues, and the quality of life necessary for our cities to conti-nue to serve humans, are issues discussed in the text. Specific examples demonstrate des-tructive processes that continue in use despite public outcry[ES] El uso y abuso de los pueblos y ciudades histĂłricas en Puerto Rico es tema de debate constante debido a intervenciones inadecuadas y al crecimiento desmedido de estos tejidos urbanos tradicionales y la metrĂłpolis en general. La deficiencia de los Planes Generales, el efecto limitado de intervenciones fragmentarias, la homogeneizaciĂłn injustificada de los centros histĂłricos, la falta de comprensiĂłn del gobierno sobre el patrimonio, y la calidad de vida necesaria para que nuestras urbes continĂșen sirviendo al ser humano, son temas discutidos en el texto. Ejemplos especĂficos demuestran prĂĄcticas destructivas que continĂșan empleĂĄndose a pesar del clamor pĂșblico en su contra.Del Cueto, B.; Pantel, AG. (2016). La conservaciĂłn urbana en Puerto Rico. Loggia, Arquitectura & RestauraciĂłn. (29):44-57. doi:10.4995/loggia.2016.5146.SWORD44572
APOE Δ4 Allele Modifies the Association of Lead Exposure with Age-related Cognitive Decline in Older Individuals
BACKGROUND: Continuing chronic and sporadic high-level of lead exposure in some regions in the U.S. has directed public attention to the effects of lead on human health. Long-term lead exposure has been associated with faster cognitive decline in older individuals; however, genetic susceptibility to lead-related cognitive decline during aging has been poorly studied.
METHODS: We determined the interaction of APOE-epsilon variants and environmental lead exposure in relation to age-related cognitive decline. We measured tibia bone lead by K-shell-x-ray fluorescence, APOE-epsilon variants by multiplex PCR and global cognitive z-scores in 489 men from the VA-Normative Aging Study. To determine global cognitive z-scores we incorporated multiple cognitive assessments, including word list memory task, digit span backwards, verbal fluency test, sum of drawings, and pattern comparison task, which were assessed at multiple visits. We used linear mixed-effect models with random intercepts for individual and for cognitive test.
RESULTS: An interquartile range (IQR:14.23Όg/g) increase in tibia lead concentration was associated with a 0.06 (95% confidence interval [95%CI]: -0.11 to -0.01) lower global cognition z-score. In the presence of both Δ4 alleles, one IQR increase in tibia lead was associated with 0.57 (95%CI: -0.97 to -0.16; p-value for interaction: 0.03) lower total cognition z-score. A borderline association was observed in presence of one Δ4 allele (Estimate-effect per 1-IQR increase: -0.11, 95%CI: -0.22, 0.01) as well as lack of association in individuals without APOE Δ4 allele.
CONCLUSIONS: Our findings suggest that individuals carrying both Δ4 alleles are more susceptible to lead impact on global cognitive decline during aging
Iron Metabolism Genes, Low-Level Lead Exposure, and QT Interval
Background: Cumulative exposure to lead has been shown to be associated with depression of electrocardiographic conduction, such as QT interval (time from start of the Q wave to end of the T wave). Because iron can enhance the oxidative effects of lead, we examined whether polymorphisms in iron metabolism genes [hemochromatosis (), transferrin () C2, and heme oxygenase-1 ()] increase susceptibility to the effects of lead on QT interval in 613 community-dwelling older men. Methods: We used standard 12-lead electrocardiograms, K-shell X-ray fluorescence, and graphite furnace atomic absorption spectrometry to measure QT interval, bone lead, and blood lead levels, respectively. Results: A one-interquartile-range increase in tibia lead level (13 ÎŒg/g) was associated with a 11.35-msec [95% confidence interval (CI), 4.05â18.65 msec] and a 6.81-msec (95% CI, 1.67â11.95 msec) increase in the heart-rateâcorrected QT interval among persons carrying long alleles and at least one copy of an variant, respectively, but had no effect in persons with short and middle alleles and the wild-type HFE genotype. The lengthening of the heart-rateâcorrected QT interval with higher tibia lead and blood lead became more pronounced as the total number (0 vs. 1 vs. â„2) of gene variants increased (tibia, -trend = 0.01; blood, -trend = 0.04). This synergy seems to be driven by a joint effect between variant and L alleles. Conclusion: We found evidence that gene variants related to iron metabolism increase the impacts of low-level lead exposure on the prolonged QT interval. This is the first such report, so these results should be interpreted cautiously and need to be independently verified
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Mitochondrial haplogroups modify the effect of black carbon on age-related cognitive impairment
Background: Traffic-related air pollution has been linked with impaired cognition in older adults, possibly due to effects of oxidative stress on the brain. Mitochondria are the main source of cellular oxidation. Haplogroups in mitochondrial DNA (mtDNA) mark individual differences in oxidative potential and are possible determinants of neurodegeneration. The aim of this study was to investigate whether mtDNA haplogroups determined differential susceptibility to cognitive effects of long-term exposure to black carbon (BC), a marker of traffic-related air pollution. Methods: We investigated 582 older men (72 ± 7 years) in the VA Normative Aging Study cohort with â€4 visits per participant (1.8 in average) between 1995â2007. Low (â€25) Mini Mental State Examination (MMSE) was used to assess impaired cognition in multiple domains. We fitted repeated-measure logistic regression using validated-LUR BC estimated in the year before their first visit at the participantâs address. Results: Mitochondrial haplotyping identified nine haplogroups phylogenetically categorized in four clusters. BC showed larger effect on MMSE in Cluster 4 carriers, including I, W and X haplogroups, [OR = 2.7; 95% CI (1.3-5.6)], moderate effect in Cluster 1, including J and T haplogroups [OR = 1.6; 95% CI: (0.9-2.9)], and no effect in Cluster 2 (H and V haplogroups) [OR = 1.1; 95% CI: (0.8-1.5)] or Cluster 3 (K and U haplogroups) [OR = 1.0; 95% CI: (0.6-1.6)]. BC effect varied only moderately across the I, X, and W haplogroups or across the J and T haplogroups. Conclusions: The association of BC with impaired cognition was worsened in carriers of phylogenetically-related mtDNA haplogroups in Cluster 4. No BC effects were detected in Cluster 2 and 3 carriers. MtDNA haplotypes may modify individual susceptibility to the particle cognitive effects
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Lead Exposure, B Vitamins, and Plasma Homocysteine in Men 55 Years of Age and Older: The VA Normative Aging Study
Background: Lead (Pb) exposure may influence the plasma concentration of homocysteine, a one-carbon metabolite associated with cardiovascular and neurodegenerative diseases. Little is known about the associations between Pb and homocysteine over time, or the potential influence of dietary factors. Objectives: We examined the longitudinal association of recent and cumulative Pb exposure with homocysteine concentrations and the potential modifying effect of dietary nutrients involved in one-carbon metabolism. Methods: In a subcohort of the Veterans Affairs (VA) Normative Aging Study (1,056 men with 2,301 total observations between 1993 and 2011), we used mixed-effects models to estimate differences in repeated measures of total plasma homocysteine across concentrations of Pb in blood and tibia bone, assessing recent and cumulative Pb exposure, respectively. We also assessed effect modification by dietary intake and plasma concentrations of folate, vitamin B6, and vitamin B12. Results: An interquartile range (IQR) increment in blood Pb (3 ÎŒg/dL) was associated with a 6.3% higher homocysteine concentration (95% CI: 4.8, 7.8%). An IQR increment in tibia bone Pb (14 ÎŒg/g) was associated with a 3.7% higher homocysteine (95% CI: 1.6, 5.6%), which was attenuated to 1.5% (95% CI: â0.5, 3.6%) after adjusting for blood Pb. For comparison, a 5-year increase in time from baseline was associated with a 5.7% increase in homocysteine (95% CI: 4.3, 7.1%). The association between blood Pb and homocysteine was significantly stronger among participants with estimated dietary intakes of vitamin B6 and folate below (vs. above) the study population medians, which were similar to the U.S. recommended dietary allowance intakes. Conclusions: Pb exposure was positively associated with plasma homocysteine concentration. This association was stronger among men with below-median dietary intakes of vitamins B6 and folate. These findings suggest that increasing intake of folate and B6 might reduce Pb-associated increases in homocysteine, a risk factor for cardiovascular disease and neurodegeneration. Citation: Bakulski KM, Park SK, Weisskopf MG, Tucker KL, Sparrow D, Spiro A III, Vokonas PS, Nie LH, Hu H, Weuve J. 2014. Lead exposure, B vitamins, and plasma homocysteine in men 55 years of age and older: the VA Normative Aging Study. Environ Health Perspect 122:1066â1074; http://dx.doi.org/10.1289/ehp.130693
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