23 research outputs found
The importance of liver function assessment before cardiac surgery: A narrative review
The demand for cardiac surgery procedures is increasing globally. Thanks to an improvement in survival driven by medical advances, patients with liver disease undergo cardiac surgery more often. Liver disease is associated with the development of heart failure, especially in patients with advanced cirrhosis. Cardiovascular risk factors can also contribute to the development of both cardiomyopathy and liver disease and heart failure itself can worsen liver function. Despite the risk that liver disease and cirrhosis represent for the perioperative management of patients who undergo cardiac surgery, liver function is often not included in common risk scores for preoperative evaluation. These patients have worse short and long-term survival when compared with other cardiac surgery populations. Preoperative evaluation of liver function, postoperative management and close postoperative follow-up are crucial for avoiding complications and improving results. In the present narrative review, we discuss the pathophysiological components related with postoperative complications and mortality in patients with liver disease who undergo cardiac surgery and provide recommendations for the perioperative management
IMPDH2 : a new gene associated with dominant juvenile-onset dystonia-tremor disorder
The aetiology of dystonia disorders is complex, and next-generation sequencing has become a useful tool in elucidating the variable genetic background of these diseases. Here we report a deleterious heterozygous truncating variant in the inosine monophosphate dehydrogenase gene (IMPDH2) by whole-exome sequencing, co-segregating with a dominantly inherited dystonia-tremor disease in a large Finnish family. We show that the defect results in degradation of the gene product, causing IMPDH2 deficiency in patient cells. IMPDH2 is the first and rate-limiting enzyme in the de novo biosynthesis of guanine nucleotides, a dopamine synthetic pathway previously linked to childhood or adolescence-onset dystonia disorders. We report IMPDH2 as a new gene to the dystonia disease entity. The evidence underlines the important link between guanine metabolism, dopamine biosynthesis and dystonia.Peer reviewe
Reply to : Proofreading deficiency in mitochondrial DNA polymerase does not affect total dNTP pools in mouse embryos
Non peer reviewe
SOXS Control Electronics Design
SOXS (Son Of X-Shooter) is a unique spectroscopic facility that will operate
at the ESO New Technology Telescope (NTT) in La Silla from 2020 onward. The
spectrograph will be able to cover simultaneously the UV-VIS and NIR bands
exploiting two different arms and a Common Path feeding system. We present the
design of the SOXS instrument control electronics. The electronics controls all
the movements, alarms, cabinet temperatures, and electric interlocks of the
instrument. We describe the main design concept. We decided to follow the ESO
electronic design guidelines to minimize project time and risks and to simplify
system maintenance. The design envisages Commercial Off-The-Shelf (COTS)
industrial components (e.g. Beckhoff PLC and EtherCAT fieldbus modules) to
obtain a modular design and to increase the overall reliability and
maintainability. Preassembled industrial motorized stages are adopted allowing
for high precision assembly standards and a high reliability. The electronics
is kept off-board whenever possible to reduce thermal issues and instrument
weight and to increase the accessibility for maintenance purpose. The
instrument project went through the Preliminary Design Review in 2017 and is
currently in Final Design Phase (with FDR in July 2018). This paper outlines
the status of the work and is part of a series of contributions describing the
SOXS design and properties after the instrument Preliminary Design Review.Comment: 10 pages, 7 figures, to be publised in SPIE Proceedings 10707-9
Developing Participatory Methods to Consider the Ethics of Emerging Technologies for Children (Extended Abstract)
This SIG will provide child-computer interaction researchers and practitioners, as well as other interested CHI attendees, an opportunity to discuss topics related to developing participatory methods to consider the ethics of emerging technologies for children. While the community has extensively debated on ethical issues, we have not had ample discussion of methods to study the ethical implications of emerging technologies. Consequently, we have been largely reactive and have not made significant contributions to public discussions on these topics, leaving these largely to experts from other fields. Our community is well-placed to contribute unique perspectives by leveraging its expertise in participatory methods, combining expert views with those of stakeholders, including children
Effect of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker initiation on organ support-free days in patients hospitalized with COVID-19
IMPORTANCE Overactivation of the renin-angiotensin system (RAS) may contribute to poor clinical outcomes in patients with COVID-19.
Objective To determine whether angiotensin-converting enzyme (ACE) inhibitor or angiotensin receptor blocker (ARB) initiation improves outcomes in patients hospitalized for COVID-19.
DESIGN, SETTING, AND PARTICIPANTS In an ongoing, adaptive platform randomized clinical trial, 721 critically ill and 58 nonâcritically ill hospitalized adults were randomized to receive an RAS inhibitor or control between March 16, 2021, and February 25, 2022, at 69 sites in 7 countries (final follow-up on June 1, 2022).
INTERVENTIONS Patients were randomized to receive open-label initiation of an ACE inhibitor (nâ=â257), ARB (nâ=â248), ARB in combination with DMX-200 (a chemokine receptor-2 inhibitor; nâ=â10), or no RAS inhibitor (control; nâ=â264) for up to 10 days.
MAIN OUTCOMES AND MEASURES The primary outcome was organ supportâfree days, a composite of hospital survival and days alive without cardiovascular or respiratory organ support through 21 days. The primary analysis was a bayesian cumulative logistic model. Odds ratios (ORs) greater than 1 represent improved outcomes.
RESULTS On February 25, 2022, enrollment was discontinued due to safety concerns. Among 679 critically ill patients with available primary outcome data, the median age was 56 years and 239 participants (35.2%) were women. Median (IQR) organ supportâfree days among critically ill patients was 10 (â1 to 16) in the ACE inhibitor group (nâ=â231), 8 (â1 to 17) in the ARB group (nâ=â217), and 12 (0 to 17) in the control group (nâ=â231) (median adjusted odds ratios of 0.77 [95% bayesian credible interval, 0.58-1.06] for improvement for ACE inhibitor and 0.76 [95% credible interval, 0.56-1.05] for ARB compared with control). The posterior probabilities that ACE inhibitors and ARBs worsened organ supportâfree days compared with control were 94.9% and 95.4%, respectively. Hospital survival occurred in 166 of 231 critically ill participants (71.9%) in the ACE inhibitor group, 152 of 217 (70.0%) in the ARB group, and 182 of 231 (78.8%) in the control group (posterior probabilities that ACE inhibitor and ARB worsened hospital survival compared with control were 95.3% and 98.1%, respectively).
CONCLUSIONS AND RELEVANCE In this trial, among critically ill adults with COVID-19, initiation of an ACE inhibitor or ARB did not improve, and likely worsened, clinical outcomes.
TRIAL REGISTRATION ClinicalTrials.gov Identifier: NCT0273570
Table1_The importance of liver function assessment before cardiac surgery: A narrative review.docx
The demand for cardiac surgery procedures is increasing globally. Thanks to an improvement in survival driven by medical advances, patients with liver disease undergo cardiac surgery more often. Liver disease is associated with the development of heart failure, especially in patients with advanced cirrhosis. Cardiovascular risk factors can also contribute to the development of both cardiomyopathy and liver disease and heart failure itself can worsen liver function. Despite the risk that liver disease and cirrhosis represent for the perioperative management of patients who undergo cardiac surgery, liver function is often not included in common risk scores for preoperative evaluation. These patients have worse short and long-term survival when compared with other cardiac surgery populations. Preoperative evaluation of liver function, postoperative management and close postoperative follow-up are crucial for avoiding complications and improving results. In the present narrative review, we discuss the pathophysiological components related with postoperative complications and mortality in patients with liver disease who undergo cardiac surgery and provide recommendations for the perioperative management.</p
Microsatellite marker development in the crop wild relative Linum bienne using genome skimming
Premise: Nuclear microsatellite markers were developed for Linum bienne , the sister species of the crop L. usitatissimum , to provide molecular genetic tools for the investigation of L. bienne genetic diversity and structure. Methods and Results: Fifty microsatellite loci were identified in L. bienne by means of genome skimming, and 44 loci successfully amplified. Of these, 16 loci evenly spread across the L. usitatissimum reference nuclear genome were used for genotyping six L. bienne populations. Excluding one monomorphic locus, the number of alleles per locus ranged from two to 12. Four out of six populations harbored private alleles. The levels of expected and observed heterozygosity were 0.076 to 0.667 and 0.000 to 1.000, respectively. All 16 loci successfully crossâamplified in L. usitatissimum . Conclusions: The 16 microsatellite loci developed here can be used for population genetic studies in L. bienne , and 28 additional loci that successfully amplified are available for further testing