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- Czymzik, Markus, et al.
(författare)
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Synchronizing the Western Gotland Basin (Baltic Sea) and Lake Kälksjön (central Sweden) sediment records using common cosmogenic radionuclide production variations
- 2024
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Ingår i: Holocene. - 0959-6836.
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Tidskriftsartikel (refereegranskat)abstract
- Multi-archive studies of climate events and archive-specific response times require synchronous time scales. Aligning common variations in the cosmogenic radionuclide production rate via curve fitting methods provides a tool for the continuous synchronization of natural environmental archives down to decadal precision. Based on this approach, we synchronize 10Be records from Western Gotland Basin (WGB, Baltic Sea) and Lake Kälksjön (KKJ, central Sweden) sediments to the 14C production time series from the IntCal20 calibration curve during the Mid-Holocene period ~6400 to 5200 a BP. Before the synchronization, we assess and reduce non-production variability in the 10Be records by using 10Be/9Be ratios and removing common variability with the TOC record from KKJ sediments based on regression analysis. The synchronizations to the IntCal20 14C production time scale suggest decadal to multi-decadal refinements of the WGB and KKJ chronologies. These refinements reduce the previously centennial chronological uncertainties of both archives to about ± 20 (WGB) and ±40 (KKJ) years. Combining proxy time series from the synchronized archives enables us to interpret a period of ventilation in the deep central Baltic Sea basins from ~6250 to 6000 a BP as possibly caused by inter-annual cooling reducing vertical water temperature gradients allowing deep water formation during exceptionally cold winters.
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- Maier, Hannes, et al.
(författare)
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Consensus Statement on Bone Conduction Devices and Active Middle Ear Implants in Conductive and Mixed Hearing Loss
- 2022
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Ingår i: Otology and Neurotology. - : Lippincott, Williams & Wilkins. - 1531-7129 .- 1537-4505. ; 43:5, s. 513-529
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Tidskriftsartikel (refereegranskat)abstract
- Nowadays, several options are available to treat patients with conductive or mixed hearing loss. Whenever surgical intervention is not possible or contra-indicated, and amplification by a conventional hearing device (e.g., behind-the-ear device) is not feasible, then implantable hearing devices are an indispensable next option. Implantable bone-conduction devices and middle-ear implants have advantages but also limitations concerning complexity/invasiveness of the surgery, medical complications, and effectiveness. To counsel the patient, the clinician should have a good overview of the options with regard to safety and reliability as well as unequivocal technical performance data. The present consensus document is the outcome of an extensive iterative process including ENT specialists, audiologists, health-policy scientists, and representatives/technicians of the main companies in this field. This document should provide a first framework for procedures and technical characterization to enhance effective communication between these stakeholders, improving health care.
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- Marriott, Heather, et al.
(författare)
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Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS
- 2024
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Ingår i: Annals of Clinical and Translational Neurology. - : John Wiley & Sons. - 2328-9503.
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Neurofilament heavy-chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to determine if NEFH variants modify ALS risk.Methods: Genetic data of 11,130 people with ALS and 7,416 controls from the literature and Project MinE were analysed. We performed meta-analyses of published case–control studies reporting NEFH variants, and variant analysis of NEFH in Project MinE whole-genome sequencing data.Results: Fixed-effects meta-analysis found that rare (MAF <1%) missense variants in the tail domain of NEFH increase ALS risk (OR 4.55, 95% CI 2.13–9.71, p < 0.0001). In Project MinE, ultrarare NEFH variants increased ALS risk (OR 1.37 95% CI 1.14–1.63, p = 0.0007), with rod domain variants (mostly intronic) appearing to drive the association (OR 1.45 95% CI 1.18–1.77, pMadsen–Browning = 0.0007, pSKAT-O = 0.003). While in the tail domain, ultrarare (MAF <0.1%) pathogenic missense variants were also associated with higher risk of ALS (OR 1.94, 95% CI 0.86–4.37, pMadsen–Browning = 0.039), supporting the meta-analysis results. Finally, several tail in-frame deletions were also found to affect disease risk, however, both protective and pathogenic deletions were found in this domain, highlighting an intricated architecture that requires further investigation.Interpretation: We showed that NEFH tail missense and in-frame deletion variants, and intronic rod variants are risk factors for ALS. However, they are not variants of large effect, and their functional impact needs to be clarified in further studies. Therefore, their inclusion in routine genetic screening panels should be reconsidered.
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- Kaltenbaek, Rainer, et al.
(författare)
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Macroscopic Quantum Resonators (MAQRO) : 2015 update
- 2016
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Ingår i: EPJ Quantum Technology. - : Springer Berlin/Heidelberg. - 2196-0763. ; 3:1
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Forskningsöversikt (refereegranskat)abstract
- Do the laws of quantum physics still hold for macroscopic objects - this is at the heart of Schrodinger's cat paradox - or do gravitation or yet unknown effects set a limit for massive particles? What is the fundamental relation between quantum physics and gravity? Ground-based experiments addressing these questions may soon face limitations due to limited free-fall times and the quality of vacuum and microgravity. The proposed mission Macroscopic Quantum Resonators (MAQRO) may overcome these limitations and allow addressing such fundamental questions. MAQRO harnesses recent developments in quantum optomechanics, high-mass matter-wave interferometry as well as state-of-the-art space technology to push macroscopic quantum experiments towards their ultimate performance limits and to open new horizons for applying quantum technology in space. The main scientific goal is to probe the vastly unexplored 'quantum-classical' transition for increasingly massive objects, testing the predictions of quantum theory for objects in a size and mass regime unachievable in ground-based experiments. The hardware will largely be based on available space technology. Here, we present the MAQRO proposal submitted in response to the 4th Cosmic Vision call for a medium-sized mission (M4) in 2014 of the European Space Agency (ESA) with a possible launch in 2025, and we review the progress with respect to the original MAQRO proposal for the 3rd Cosmic Vision call for a medium-sized mission (M3) in 2010. In particular, the updated proposal overcomes several critical issues of the original proposal by relying on established experimental techniques from high-mass matter-wave interferometry and by introducing novel ideas for particle loading and manipulation. Moreover, the mission design was improved to better fulfill the stringent environmental requirements for macroscopic quantum experiments.
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- Khan, J, et al.
(författare)
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Classification and diagnostic prediction of cancers using gene expression profiling and artificial neural networks
- 2001
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Ingår i: Nature Medicine. - : Springer Science and Business Media LLC. - 1546-170X .- 1078-8956. ; 7:6, s. 673-679
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to develop a method of classifying cancers to specific diagnosticcategories based on their gene expression signatures using artificial neural networks (ANNs).We trained the ANNs using the small, round blue-cell tumors (SRBCTs) as a model. These cancersbelong to four distinct diagnostic categories and often present diagnostic dilemmas in clinicalpractice. The ANNs correctly classified all samples and identified the genes most relevant to theclassification. Expression of several of these genes has been reported in SRBCTs, but most havenot been associated with these cancers. To test the ability of the trained ANN models to recognizeSRBCTs, we analyzed additional blinded samples that were not previously used for the trainingprocedure, and correctly classified them in all cases. This study demonstrates the potentialapplications of these methods for tumor diagnosis and the identification of candidate targets fortherapy.
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