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- Chase, A., et al.
(författare)
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Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus
- 2015
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 29:10, s. 2069-2074
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Tidskriftsartikel (refereegranskat)abstract
- Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n = 7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P < 0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r = 0.76; P = 0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n = 11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change.
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- Antichi, Gianni, et al.
(författare)
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ENDEAVOUR : A Scalable SDN Architecture For Real-World IXPs
- 2017
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Ingår i: IEEE Journal on Selected Areas in Communications. - : Institute of Electrical and Electronics Engineers (IEEE). - 0733-8716 .- 1558-0008. ; 35:11, s. 2553-2562
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Tidskriftsartikel (refereegranskat)abstract
- Innovation in interdomain routing has remained stagnant for over a decade. Recently, Internet eXchange Points (IXPs) have emerged as economically-advantageous interconnection points for reducing path latencies and exchanging ever increasing traffic volumes among, possibly, hundreds of networks. Given their far-reaching implications on interdomain routing, IXPs are the ideal place to foster network innovation and extend the benefits of software defined networking (SDN) to the interdomain level. In this paper, we present, evaluate, and demonstrate ENDEAVOUR, an SDN platform for IXPs. ENDEAVOUR can be deployed on a multi-hop IXP fabric, supports a large number of use cases, and is highly scalable, while avoiding broadcast storms. Our evaluation with real data from one of the largest IXPs, demonstrates the benefits and scalability of our solution: ENDEAVOUR requires around 70% fewer rules than alternative SDN solutions thanks to our rule partitioning mechanism. In addition, by providing an open source solution, we invite everyone from the community to experiment (and improve) our implementation as well as adapt it to new use cases.
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- Bauer, M., et al.
(författare)
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In vivo characterization of the mechanics of human uterine cervices
- 2007
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Ingår i: Reproductive Biomechanics. - : Blackwell Publishing. - 1573316733 - 9781573316736 ; , s. 186-202
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Konferensbidrag (refereegranskat)abstract
- The uterine cervix has to provide mechanical resistance to ensure a normal development of the fetus. This is guaranteed by the composition of its extracellular matrix, which functions as a fiber-reinforced composite. At term a complex remodeling process allows the cervical canal to open for birth. This remodeling is achieved by changes in the quality and quantity of collagen fibers and ground substance and their interplay, which influences the biomechanical behavior of the cervix but also contributes to pathologic conditions such as cervical incompetence (CI). We start by reviewing the anatomy and histological composition of the human cervix, and discuss its physiologic function and pathologic condition in pregnancy including biomechanical aspects. Established diagnostic methods on the cervix (palpation, endovaginal ultrasound) used in clinics as well as methods for assessment of cervical consistency (light-induced fluorescence, electrical current, and impedance) are discussed. We show the first clinical application of an aspiration device, which allows in vivo testing of the biomechanical properties of the cervix with the aim to establish the physiological biomechanical changes throughout gestation and to detect pregnant women at risk for CI. In a pilot study on nonpregnant cervices before and after hysterectomy we found no considerable difference in the biomechanical response between in vivo and ex vivo. An outlook on further clinical applications during pregnancy is presented.
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- Eder, Michaela, et al.
(författare)
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Experimental micromechanical characterisation of wood cell walls
- 2013
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Ingår i: Wood Science and Technology. - : Springer Science and Business Media LLC. - 0043-7719 .- 1432-5225. ; :1, s. 163-182
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Tidskriftsartikel (refereegranskat)abstract
- The properties of wood and wood-based materials are strongly dependent on the properties of the fibres, that is, the cell wall properties. It is thus highly important to be able to mechanically characterise cell walls in order to understand structure-property relationships. This article gives a brief overview of the state of the art in experimental techniques to characterise the mechanical properties of wood at both the level of the single cell and that of the cell wall. Challenges, opportunities, drawbacks and limitations of single fibre tensile tests and nanoindentation are discussed with respect to the wood material properties.
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- Spitalnik, Steven L, et al.
(författare)
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2015 proceedings of the National Heart, Lung, and Blood Institute's State of the Science in Transfusion Medicine symposium
- 2015
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Ingår i: Transfusion. - : Wiley. - 1537-2995 .- 0041-1132. ; 55:9, s. 90-2282
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Forskningsöversikt (refereegranskat)abstract
- On March 25 and 26, 2015, the National Heart, Lung, and Blood Institute sponsored a meeting on the State of the Science in Transfusion Medicine on the National Institutes of Health (NIH) campus in Bethesda, Maryland, which was attended by a diverse group of 330 registrants. The meeting's goal was to identify important research questions that could be answered in the next 5 to 10 years and which would have the potential to transform the clinical practice of transfusion medicine. These questions could be addressed by basic, translational, and/or clinical research studies and were focused on four areas: the three "classical" transfusion products (i.e., red blood cells, platelets, and plasma) and blood donor issues. Before the meeting, four working groups, one for each area, prepared five major questions for discussion along with a list of five to 10 additional questions for consideration. At the meeting itself, all of these questions, and others, were discussed in keynote lectures, small-group breakout sessions, and large-group sessions with open discourse involving all meeting attendees. In addition to the final lists of questions, provided herein, the meeting attendees identified multiple overarching, cross-cutting themes that addressed issues common to all four areas; the latter are also provided. It is anticipated that addressing these scientific priorities, with careful attention to the overarching themes, will inform funding priorities developed by the NIH and provide a solid research platform for transforming the future practice of transfusion medicine.
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- van Hees, Vincent T., et al.
(författare)
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Separating Movement and Gravity Components in an Acceleration Signal and Implications for the Assessment of Human Daily Physical Activity
- 2013
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 8:4, s. e61691-
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Human body acceleration is often used as an indicator of daily physical activity in epidemiological research. Raw acceleration signals contain three basic components: movement, gravity, and noise. Separation of these becomes increasingly difficult during rotational movements. We aimed to evaluate five different methods (metrics) of processing acceleration signals on their ability to remove the gravitational component of acceleration during standardised mechanical movements and the implications for human daily physical activity assessment. Methods: An industrial robot rotated accelerometers in the vertical plane. Radius, frequency, and angular range of motion were systematically varied. Three metrics (Euclidian norm minus one [ENMO], Euclidian norm of the high-pass filtered signals [HFEN], and HFEN plus Euclidean norm of low-pass filtered signals minus 1 g [HFEN+]) were derived for each experimental condition and compared against the reference acceleration (forward kinematics) of the robot arm. We then compared metrics derived from human acceleration signals from the wrist and hip in 97 adults (22-65 yr), and wrist in 63 women (20-35 yr) in whom daily activity-related energy expenditure (PAEE) was available. Results: In the robot experiment, HFEN+ had lowest error during (vertical plane) rotations at an oscillating frequency higher than the filter cut-off frequency while for lower frequencies ENMO performed better. In the human experiments, metrics HFEN and ENMO on hip were most discrepant (within- and between-individual explained variance of 0.90 and 0.46, respectively). ENMO, HFEN and HFEN+ explained 34%, 30% and 36% of the variance in daily PAEE, respectively, compared to 26% for a metric which did not attempt to remove the gravitational component (metric EN). Conclusion: In conclusion, none of the metrics as evaluated systematically outperformed all other metrics across a wide range of standardised kinematic conditions. However, choice of metric explains different degrees of variance in daily human physical activity.
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