79 research outputs found
Managing human-mediated range shifts: understanding spatial, temporal and genetic variation in marine non-native species
Este artículo contiene 10 páginas, 3 figuras.The use of molecular tools to manage natural resources is increasingly
common. However, DNA-based methods are seldom used to understand
the spatial and temporal dynamics of species’ range shifts. This is important
when managing range shifting species such as non-native species (NNS),
which can have negative impacts on biotic communities. Here, we investigated
the ascidian NNS Ciona robusta, Clavelina lepadiformis, Microcosmus squamiger
and Styela plicata using a combined methodological approach. We first
conducted non-molecular biodiversity surveys for these NNS along the
South African coastline, and compared the results with historical surveys. We
detected no consistent change in range size across species, with some
displaying range stability and others showing range shifts. We then sequenced
a section of cytochrome c oxidase subunit I (COI) from tissue samples and
found genetic differences along the coastline but no change over recent
times. Finally, we found that environmental DNA metabarcoding data
showed broad congruence with both the biodiversity survey and the COI
datasets, but failed to capture the complete incidence of all NNS. Overall, we
demonstrated how a combined methodological approach can effectively
detect spatial and temporal variation in genetic composition and range size,
which is key for managing both thriving NNS and threatened species.
This article is part of the theme issue ‘Species’ ranges in the face of
changing environments (part I)’.L.E.H. was supported by the Natural Environmental Research
Council (grant no. NE/L002531/1) and research in South Africa was
supported by the Newton Fund (grant no. ES/N013913/1).Peer reviewe
LBNL# 40102 Field Investigation of Duct System Performance in California Light Commercial Buildings 1 of 26 Field Investigation of Duct System Performance in California Light Commercial Buildings Synopsis
Abstract Light commercial buildings, one-and two-story with package roof-top HVAC units, make up approximately 50% of the non-residential building stock in the U.S. Despite this fact little is known about the performance of these package roof-top units and their associated ductwork. These simple systems use similar duct materials and construction techniques as residential systems (which are known to be quite leaky). This paper discusses a study to characterize the buildings, quantify the duct leakage, and analyze the performance of the ductwork in these types of buildings. The study tested fifteen systems in eight different buildings located in northern California. All of these buildings had the ducts located in the cavity between the drop ceiling and the roof deck. In 50% of these buildings, this cavity was functionally outside both the building's air and thermal barriers. The effective leakage area of the ducts in this study was approximately 2.6 times that in residential buildings. This paper looks at the thermal analysis of the ducts, from the viewpoint of efficiency and thermal comfort. This includes the length of a cycle, and whether the fan is always on or if it cycles with the cooling equipment. 66% of the systems had frequent on cycles of less than 10 minutes, resulting in non-steady-state operation
Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis
Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs
Background: Esophageal atresia (EA) affects around 2.3–2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions. Methods: We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research. We calculated survival as the proportion of liveborn infants alive at 1 month, 1- and 5-years, among all infants with EA, those with isolated EA, those with EA and additional anomalies or EA and a chromosomal anomaly or genetic syndrome. We also investigated trends in survival over the decades, 1980s–2010s. Results: We included 6,466 liveborn infants with EA. Survival was 89.4% (95% CI 88.1–90.5) at 1-month, 84.5% (95% CI 83.0–85.9) at 1-year and 82.7% (95% CI 81.2–84.2) at 5-years. One-month survival for infants with isolated EA (97.1%) was higher than for infants with additional anomalies (89.7%) or infants with chromosomal or genetic syndrome diagnoses (57.3%) with little change at 1- and 5-years. Survival at 1 month improved from the 1980s to the 2010s, by 6.5% for infants with isolated EA and by 21.5% for infants with EA and additional anomalies. Conclusions: Almost all infants with isolated EA survived to 5 years. Mortality was higher for infants with EA and an additional anomaly, including chromosomal or genetic syndromes. Survival improved from the 1980s, particularly for those with additional anomalies
Adaptations of Avian Flu Virus Are a Cause for Concern
We are in the midst of a revolutionary period in the life sciences. Technological capabilities have dramatically expanded, we have a much improved understanding of the complex biology of selected microorganisms, and we have a much improved ability to manipulate microbial genomes. With this has come unprecedented potential for better control of infectious diseases and significant societal benefit. However, there is also a growing risk that the same science will be deliberately misused and that the consequences could be catastrophic. Efforts to describe or define life-sciences research of particular concern have focused on the possibility that knowledge or products derived from such research, or new technologies, could be directly misapplied with a sufficiently broad scope to affect national or global security. Research that might greatly enhance the harm caused by microbial pathogens has been of special concern (1–3). Until now, these efforts have suffered from a lack of specificity and a paucity of concrete examples of “dual use research of concern” (3). Dual use is defined as research that could be used for good or bad purposes. We are now confronted by a potent, real-world example
Neoadjuvant Clinical Trial With Sorafenib for Patients With Stage II or Higher Renal Cell Carcinoma
The multitargeted tyrosine kinase inhibitor sorafenib is used for the treatment of advanced-stage renal cell carcinoma. However, the safety and efficacy of this agent have yet to be evaluated in the preoperative period, where there may be potential advantages including tumor downstaging. This prospective trial evaluates the safety and feasibility of sorafenib in the preoperative setting
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson\u27s disease: The GenePD study
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
<p>Abstract</p> <p>Background</p> <p>We report age-dependent penetrance estimates for leucine-rich repeat kinase 2 (<it>LRRK2</it>)-related Parkinson's disease (PD) in a large sample of familial PD. The most frequently seen <it>LRRK2 </it>mutation, Gly2019Ser (G2019S), is associated with approximately 5 to 6% of familial PD cases and 1 to 2% of idiopathic cases, making it the most common known genetic cause of PD. Studies of the penetrance of <it>LRRK2 </it>mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD.</p> <p>Methods</p> <p>A sample, including 903 affected and 58 unaffected members from 509 families ascertained for having two or more PD-affected members, 126 randomly ascertained PD patients and 197 controls, was screened for five different <it>LRRK2 </it>mutations. Penetrance was estimated in families of <it>LRRK2 </it>carriers with consideration of the inherent bias towards increased penetrance in a familial sample.</p> <p>Results</p> <p>Thirty-one out of 509 families with multiple cases of PD (6.1%) were found to have 58 <it>LRRK2 </it>mutation carriers (6.4%). Twenty-nine of the 31 families had G2019S mutations while two had R1441C mutations. No mutations were identified among controls or unaffected relatives of PD cases. Nine PD-affected relatives of G2019S carriers did not carry the <it>LRRK2 </it>mutation themselves. At the maximum observed age range of 90 to 94 years, the unbiased estimated penetrance was 67% for G2019S families, compared with a baseline PD risk of 17% seen in the non-<it>LRRK2</it>-related PD families.</p> <p>Conclusion</p> <p>Lifetime penetrance of <it>LRRK2 </it>estimated in the unascertained relatives of multiplex PD families is greater than that reported in studies of sporadically ascertained <it>LRRK2 </it>cases, suggesting that inherited susceptibility factors may modify the penetrance of <it>LRRK2 </it>mutations. In addition, the presence of nine PD phenocopies in the <it>LRRK2 </it>families suggests that these susceptibility factors may also increase the risk of non-<it>LRRK2</it>-related PD. No differences in penetrance were found between men and women, suggesting that the factors that influence penetrance for <it>LRRK2 </it>carriers are independent of the factors which increase PD prevalence in men.</p
Validation of Interobserver Agreement in Lung Cancer Assessment: Hematoxylin-Eosin Diagnostic Reproducibility for Non–Small Cell Lung Cancer: The 2004 World Health Organization Classification and Therapeutically Relevant Subsets
Precise subtype diagnosis of non–small cell lung carcinoma is increasingly relevant, based on the availability of subtype-specific therapies, such as bevacizumab and pemetrexed, and based on the subtype-specific prevalence of activating epidermal growth factor receptor mutations
The Science Performance of JWST as Characterized in Commissioning
This paper characterizes the actual science performance of the James Webb
Space Telescope (JWST), as determined from the six month commissioning period.
We summarize the performance of the spacecraft, telescope, science instruments,
and ground system, with an emphasis on differences from pre-launch
expectations. Commissioning has made clear that JWST is fully capable of
achieving the discoveries for which it was built. Moreover, almost across the
board, the science performance of JWST is better than expected; in most cases,
JWST will go deeper faster than expected. The telescope and instrument suite
have demonstrated the sensitivity, stability, image quality, and spectral range
that are necessary to transform our understanding of the cosmos through
observations spanning from near-earth asteroids to the most distant galaxies.Comment: 5th version as accepted to PASP; 31 pages, 18 figures;
https://iopscience.iop.org/article/10.1088/1538-3873/acb29
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