531 research outputs found
Integrated life cycle assessment and thermodynamic simulation of a public building's envelope renovation : Conventional vs. Passivhaus proposal
Unidad de excelencia María de Maeztu MdM-2015-0552The need to improve the energy efficiency of buildings has introduced the concept of nearly zero-energy buildings into European energy policies. Moreover, a percentage of the building stock will have to be renovated annually to attain high energy performance. Conventional passive interventions in buildings are focused on increasing the insulation of the building envelope to increase its energy efficiency during the operating phase. Often, however, intervention practices imply the incorporation of embodied energy into the building materials and increase the associated environmental impacts.This paper presents and evaluates a comparison of two different proposals for a real-world building renovation. The first proposal was a conventional project for energy renovation, while the second was a low-energy building proposal (following the Passivhaus standard). This study analysed the proposals using an integrated life cycle and thermal dynamic simulation assessment to identify the adequacy of each renovation alternative regarding the post-renovation energy performance of the building, including an evaluation of the introduction of a renewable insulation material into the low-energy building proposal, specifically a specific cork solution. The most significant conclusion was the convenience of the renovation, achieving energy savings of 60% and 80% for the conventional and Passivhaus renovations (ENERPHIT), respectively. The former supposed less embodied energy and environmental impacts but also generated less energy savings. The latter increased the embodied impacts in the building, mainly for the large amount of insulation material. The environmental implications of both proposals can be compensated for within a reasonable period of time, over 2 years in the majority of alternatives and impact categories. However, the ENERPHIT project was 30% better than the conventional proposal when the total lifespan of the building was considered. The introduction of cork did not fit the requirements for competing with the common non-renewable insulation materials because it did not imply better environmental performance in buildings, but cork insulation solutions currently present ample room for improvement
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients
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Suppression of growth by multiplicative white noise in a parametric resonant system
The author studied the growth of the amplitude in a Mathieu-like equation
with multiplicative white noise. The approximate value of the exponent at the
extremum on parametric resonance regions was obtained theoretically by
introducing the width of time interval, and the exponents were calculated
numerically by solving the stochastic differential equations by a symplectic
numerical method. The Mathieu-like equation contains a parameter that
is determined by the intensity of noise and the strength of the coupling
between the variable and the noise. The value of was restricted not to
be negative without loss of generality. It was shown that the exponent
decreases with , reaches a minimum and increases after that. It was
also found that the exponent as a function of has only one minimum at
on parametric resonance regions of . This minimum
value is obtained theoretically and numerically. The existence of the minimum
at indicates the suppression of the growth by multiplicative
white noise.Comment: The title and the description in the manuscript are change
A neurogenetic model for the study of schizophrenia spectrum disorders: The International 22q11.2 Deletion Syndrome Brain Behavior Consortium
Rare copy number variants contribute significantly to the risk for schizophrenia, with the
22q11.2 locus consistently implicated. Individuals with the 22q11.2 deletion syndrome
(22q11DS) have an estimated 25-fold increased risk for schizophrenia spectrum disorders,
compared to individuals in the general population. The International 22q11DS Brain Behavior
Consortium is examining this highly informative neurogenetic syndrome phenotypically and
genomically. Here we detail the procedures of the effort to characterize the neuropsychiatric and
neurobehavioral phenotypes associated with 22q11DS, focusing on schizophrenia and
subthreshold expression of psychosis. The genomic approach includes a combination of whole
genome sequencing and genome-wide microarray technologies, allowing the investigation of all
possible DNA variation and gene pathways influencing the schizophrenia-relevant phenotypic
expression. A phenotypically rich data set provides a psychiatrically well-characterized sample
of unprecedented size (n=1,616) that informs the neurobehavioral developmental course of
22q11DS. This combined set of phenotypic and genomic data will enable hypothesis testing to
elucidate the mechanisms underlying the pathogenesis of schizophrenia spectrum disorders
Do acute elevations of serum creatinine in primary care engender an increased mortality risk?
Background: The significant impact Acute Kidney Injury (AKI) has on patient morbidity and mortality emphasizes the need for early recognition and effective treatment. AKI presenting to or occurring during hospitalisation has been widely studied but little is known about the incidence and outcomes of patients experiencing acute elevations in serum creatinine in the primary care setting where people are not subsequently admitted to hospital. The aim of this study was to define this incidence and explore its impact on mortality. Methods: The study cohort was identified by using hospital data bases over a six month period. Inclusion criteria: People with a serum creatinine request during the study period, 18 or over and not on renal replacement therapy. The patients were stratified by a rise in serum creatinine corresponding to the Acute Kidney Injury Network (AKIN) criteria for comparison purposes. Descriptive and survival data were then analysed. Ethical approval was granted from National Research Ethics Service (NRES) Committee South East Coast and from the National Information Governance Board. Results: The total study population was 61,432. 57,300 subjects with ‘no AKI’, mean age 64.The number (mean age) of acute serum creatinine rises overall were, ‘AKI 1’ 3,798 (72), ‘AKI 2’ 232 (73), and ‘AKI 3’ 102 (68) which equates to an overall incidence of 14,192 pmp/year (adult). Unadjusted 30 day survival was 99.9% in subjects with ‘no AKI’, compared to 98.6%, 90.1% and 82.3% in those with ‘AKI 1’, ‘AKI 2’ and ‘AKI 3’ respectively. After multivariable analysis adjusting for age, gender, baseline kidney function and co-morbidity the odds ratio of 30 day mortality was 5.3 (95% CI 3.6, 7.7), 36.8 (95% CI 21.6, 62.7) and 123 (95% CI 64.8, 235) respectively, compared to those without acute serum creatinine rises as defined. Conclusions: People who develop acute elevations of serum creatinine in primary care without being admitted to hospital have significantly worse outcomes than those with stable kidney function
Evaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease
Extreme obesity (EO, BMI>50) is frequently associated with neuropsychiatric disease (NPD). As both EO and NPD are heritable central nervous system disorders, we assessed the prevalence of protein truncating (PTV) and copy number variants (CNV) in genes/regions previously implicated in NPD, in adults with EO (n=149) referred for weight loss/bariatric surgery. We also assessed the prevalence of CNVs in patients referred to University College London Hospital (UCLH) with EO (n=218) and obesity (O, BMI 35-50, n=374) and a Swedish cohort of participants from the community with predominantly O (n=161). The prevalence of variants was compared to controls in ExAC/gnomAd database.
In the discovery cohort (high NPD prevalence: 77%), the cumulative PTV/CNV allele frequency (AF) was 7.7 % vs 2.6% in controls (Odds Ratio (OR) 3.1, (95% CI 2-4.1, p<0.0001). In the UCLH EO cohort (intermediate NPD prevalence: 47%), CNV AF (1.8% vs 0.9% in controls, OR 1.95, 95% CI 0.96-3.93, p=0.06) was lower than the discovery cohort. CNV AF was not increased in the UCLH O cohort (0.8%). No CNVs were identified in the Swedish cohort with no NPD.
These findings suggest PTV/CNVs, in genes/regions previously associated with NPD, may contribute to NPD in patients with EO
Primordial Black Holes: sirens of the early Universe
Primordial Black Holes (PBHs) are, typically light, black holes which can
form in the early Universe. There are a number of formation mechanisms,
including the collapse of large density perturbations, cosmic string loops and
bubble collisions. The number of PBHs formed is tightly constrained by the
consequences of their evaporation and their lensing and dynamical effects.
Therefore PBHs are a powerful probe of the physics of the early Universe, in
particular models of inflation. They are also a potential cold dark matter
candidate.Comment: 21 pages. To be published in "Quantum Aspects of Black Holes", ed. X.
Calmet (Springer, 2014
Subanesthetic ketamine treatment promotes abnormal interactions between neural subsystems and alters the properties of functional brain networks
Acute treatment with subanesthetic ketamine, a non-competitive N-methyl-D-aspartic acid (NMDA) receptor antagonist, is widely utilized as a translational model for schizophrenia. However, how acute NMDA receptor blockade impacts on brain functioning at a systems level, to elicit translationally relevant symptomatology and behavioral deficits, has not yet been determined. Here, for the first time, we apply established and recently validated topological measures from network science to brain imaging data gained from ketamine-treated mice to elucidate how acute NMDA receptor blockade impacts on the properties of functional brain networks. We show that the effects of acute ketamine treatment on the global properties of these networks are divergent from those widely reported in schizophrenia. Where acute NMDA receptor blockade promotes hyperconnectivity in functional brain networks, pronounced dysconnectivity is found in schizophrenia. We also show that acute ketamine treatment increases the connectivity and importance of prefrontal and thalamic brain regions in brain networks, a finding also divergent to alterations seen in schizophrenia. In addition, we characterize how ketamine impacts on bipartite functional interactions between neural subsystems. A key feature includes the enhancement of prefrontal cortex (PFC)-neuromodulatory subsystem connectivity in ketamine-treated animals, a finding consistent with the known effects of ketamine on PFC neurotransmitter levels. Overall, our data suggest that, at a systems level, acute ketamine-induced alterations in brain network connectivity do not parallel those seen in chronic schizophrenia. Hence, the mechanisms through which acute ketamine treatment induces translationally relevant symptomatology may differ from those in chronic schizophrenia. Future effort should therefore be dedicated to resolve the conflicting observations between this putative translational model and schizophrenia
Evidence that duplications of 22q11.2 protect against schizophrenia.
A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2--the reciprocal of the well-known, risk-inducing deletion of this locus--are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia
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