Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection. Evidence exists for a ...perturbation of innate immunity as a primary pathogenic event in the disease phenotype. Here, we show that TREX1, encoding the major mammalian 3′ → 5′ DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity. Similar loss of function in the Trex1−/− mouse leads to an inflammatory phenotype. Our findings suggest an unanticipated role for TREX1 in processing or clearing anomalous DNA structures, failure of which results in the triggering of an abnormal innate immune response.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Question prompt lists (QPLs) are structured sets of disease-specific questions that enhance patient-physician communication by encouraging patients to ask questions during consultations.
The aim of ...this study was to develop a preliminary achalasia-specific QPL created by esophageal experts.
The QPL content was derived through a modified Delphi method consisting of 2 rounds. In round 1, experts provided 5 answers to the prompts "What general questions should patients ask when given a new diagnosis of achalasia" and "What questions do I not hear patients asking, but given my expertise, I believe they should be asking?" In round 2, experts rated questions on a 5-point Likert scale. Questions considered "essential" or "important" were accepted into the QPL. Feedback regarding the QPL was obtained in a pilot study wherein patients received the QPL before their consultation and completed surveys afterwards.
Nineteen esophageal experts participated in both rounds. Of 148 questions from round 1, 124 (83.8%) were accepted into the QPL. These were further reduced to 56 questions to minimize redundancy. Questions were categorized into 6 themes: "What is achalasia," "Risks with achalasia," "Symptom management in achalasia," "Treatment of achalasia," "Risk of reflux after treatment," and "Follow-up after treatment." Nineteen patients participated in the pilot, most of whom agreed that the QPL was helpful (84.2%) and recommended its wider use (84.2%).
This is the first QPL developed specifically for adults with achalasia. Although well-received in a small pilot, follow-up studies will incorporate additional patient feedback to further refine the QPL content and assess its usability, acceptability, and feasibility.
In April 2023, the superBIT telescope was lifted to the Earth’s stratosphere by a helium-filled super-pressure balloon to acquire astronomical imaging from above (99.5% of) the Earth’s atmosphere. It ...was launched from New Zealand and then, for 40 days, circumnavigated the globe five times at a latitude 40 to 50 degrees south. Attached to the telescope were four “drs” (Data Recovery System) capsules containing 5 TB solid state data storage, plus a gnss receiver, Iridium transmitter, and parachute. Data from the telescope were copied to these, and two were dropped over Argentina. They drifted 61 km horizontally while they descended 32 km, but we predicted their descent vectors within 2.4 km: in this location, the discrepancy appears irreducible below ∼2 km because of high speed, gusty winds and local topography. The capsules then reported their own locations within a few metres. We recovered the capsules and successfully retrieved all of superBIT’s data despite the telescope itself being later destroyed on landing.
Pulsed power generators create high-energy-density conditions by rapidly delivering an immense pulse of electrical current to a compact imploding load. Accurately measuring the shape and amplitude of ...this load current pulse is essential to understanding the behavior of all pulsed power experiments. At the Z Pulsed Power Facility, the closest-in load current measurements are provided by velocimetry techniques such as VISAR (velocity interferometer system for any reflector) and PDV (photonic Doppler velocimetry). Here, fiber-coupled interferometers measure the velocity history of an exploding metallic flyer plate that is embedded in the vertical walls of the current return can. The flyer plate is driven outward by the magnetic pressure from the load current such that magnetohydrodynamic modeling can be used to determine the load current waveform from the measured velocity history. In this paper, we present the first load current velocimetry measurements to be made from the horizontal top flyer plate that carries current radially inward from the return can to the load. These spatially resolved measurements, which span R=5–9 mm, are enabled by a transformative new velocimetry diagnostic—a line-imaging velocity interferometer called Z Line VISAR (ZLV)—whose optical performance overcomes the measurement challenges presented by the steep velocity gradients encountered on the top flyer plate. To validate ZLV’s capabilities, a 14-MA, 100-ns experiment was conducted to losslessly couple current up the return can and radially inward across the top flyer plate. Comparisons between the ZLV data obtained from this experiment and two-dimensional magnetohydrodynamic simulations driven with the current measured on the return can indicate that the current delivery across the top flyer plate is indeed lossless to within the few-percent uncertainty of the ZLV data. Given that the current coupling is lossless, the experimental results are used to demonstrate that one-dimensional current unfold techniques can be applied to generate a radially resolved load current map from the ZLV velocity data. This analysis provides a template for how to use the ZLV diagnostic to determine the efficacy of current delivery in future experiments where losses may occur in close proximity to the load.
The European Union (EU) has emerged as a leading governing body in the international struggle to govern climate change. The transformation that has occurred in its policies and institutions has ...profoundly affected climate change politics at the international level and within its 27 Member States. But how has this been achieved when the EU comprises so many levels of governance, when political leadership in Europe is so dispersed and the policy choices are especially difficult? Drawing on a variety of detailed case studies spanning the interlinked challenges of mitigation and adaptation, this volume offers an unrivalled account of how different actors wrestled with the complex governance dilemmas associated with climate policy making. Opening up the EU's inner workings to non-specialists, it provides a perspective on the way that the EU governs, as well as exploring its ability to maintain a leading position in international climate change politics.
Mobility and recognition in cell biology Horst Sund, Cees Veeger, Federation of European Biochemical Societies / Horst Sund, Cees Veeger, Federation of European Biochemical Societies
2019, 1983
eBook
No detailed description available for "Mobility and recognition in cell biology".
In April to May 2023, the superBIT telescope was lifted to the Earth's stratosphere by a helium-filled super-pressure balloon, to acquire astronomical imaging from above (99.5% of) the Earth's ...atmosphere. It was launched from New Zealand then, for 40 days, circumnavigated the globe five times at a latitude 40 to 50 degrees South. Attached to the telescope were four 'DRS' (Data Recovery System) capsules containing 5 TB solid state data storage, plus a GNSS receiver, Iridium transmitter, and parachute. Data from the telescope were copied to these, and two were dropped over Argentina. They drifted 61 km horizontally while they descended 32 km, but we predicted their descent vectors within 2.4 km: in this location, the discrepancy appears irreducible below 2 km because of high speed, gusty winds and local topography. The capsules then reported their own locations to within a few metres. We recovered the capsules and successfully retrieved all of superBIT's data - despite the telescope itself being later destroyed on landing.
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