Search results for "Sudden"

Supporting group decision makers to locate temporary relief distribution centres after sudden-onset disasters

2020

International audience; In the humanitarian response, multiple decision-makers (DMs) need to collaborate in various problems, such as locating temporary relief distribution centres (RDCs). Several studies have argued that maximising demand coverage, reducing logistics costs and minimising response time are among the critical objectives when locating RDCs after a sudden-onset disaster. However, these objectives are often conflicting and the trade-offs can considerably complicate the situation for finding a consensus.To address the challenge and support the DMs, we suggest investigating the stability of non-dominated alternatives derived from a multi-objective model based on Monte Carlo Simul…

Measuring the quality of humanitarian information products: Insights from the 2015 Nepal earthquake

2018

Information plays a critical role in humanitarian assistance. It has become a product that is shared for multiple purposes such as situational awareness, decision-making, coordination, reporting, and attracting funding. In the aftermath of sudden onset disasters, humanitarians are constrained with huge workload, time pressure, and uncertainties and thus, information products are often criticized with respect to quality issues. In this paper, we aim at developing an empirically grounded framework that can measure the quality of information products through accuracy, objectivity, completeness, and consistency. We validate the framework with the help of practitioners and apply it to the inform…

2017

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal genetic arrhythmia that manifests syncope or sudden death in children and young adults under stress conditions. CPVT patients often present bradycardia and sino-atrial node (SAN) dysfunction. However, the mechanism remains unclear. We analyzed SAN function in two CPVT families and in a novel knock-in (KI) mouse model carrying the RyR2R420Q mutation. Humans and KI mice presented slower resting heart rate. Accordingly, the rate of spontaneous intracellular Ca2+ ([Ca2+]i) transients was slower in KI mouse SAN preparations than in WT, without any significant alteration in the "funny" current (If ). The L-type Ca2+ current …

The EP300/TP53 pathway, a suppressor of the Hippo and canonical WNT pathways, is activated in human hearts with arrhythmogenic cardiomyopathy in the …

2021

Aim Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disease that typically manifests with cardiac arrhythmias, progressive heart failure and sudden cardiac death (SCD). ACM is mainly caused by mutations in genes encoding desmosome proteins. Desmosomes are cell-cell adhesion structures and hubs for mechanosensing and mechanotransduction. The objective was to identify the dysregulated molecular and biological pathways in human ACM in the absence of overt heart failure. Methods and results Transcriptomes in the right ventricular endomyocardial biopsy samples from three independent individuals carrying truncating mutations in the DSP gene and 5 control samples were analyzed by RNA-S…

New Approach of Controlling Cardiac Alternans

2018

The alternans of the cardiac action potential duration is a pathological rhythm. It is considered to be relating to the onset of ventricular fibrillation and sudden cardiac death. It is well known that, the predictive control is among the control methods that use the chaos to stabilize the unstable fixed point. Firstly, we show that alternans (or period-2 orbit) can be suppressed temporally by the predictive control of the periodic state of the system. Secondly, we determine an estimation of the size of a restricted attraction's basin of the unstable equilibrium point representing the unstable regular rhythm stabilized by the control. This result allows the application of predictive control…

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

2016

International audience; AIMS: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations.METHODS AND RESULTS: A cohort of 34 patients from 9 families was recruited between 2001 and 2010. DNA were sequenced on all exons and flanking sequences of the PRKAG2 gene using Sanger sequencing. Overall, four families carried the recur…

Chronically elevated branched chain amino acid levels are pro-arrhythmic.

2022

Aim. Cardiac arrhythmias comprise a major health and economic burden and are associated with significant morbidity and mortality, including cardiac failure, stroke and sudden cardiac death (SCD). Development of efficient preventive and therapeutic strategies is hampered by incomplete knowledge of disease mechanisms and pathways. Our aim is to identify novel mechanisms underlying cardiac arrhythmia and SCD using an unbiased approach. Methods and Results. We employed a phenotype-driven N-ethyl-N-nitrosourea (ENU) mutagenesis screen and identified a mouse line with a high incidence of sudden death at young age (6-9 weeks) in the absence of prior symptoms. Affected mice were found to be homozyg…

Systematic ajmaline challenge in patients with long QT 3 syndrome caused by the most common mutation: a multicentre study

2016

Aims Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. Methods and results Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study. Besides routine clinical work-up, ajmaline challenge was performed after informed consent. A total of 23 subjects (11 female, mean age 27 ± 14 yea…

Intranasal midazolam for treating acute respiratory crises in a woman with stiff person syndrome.

2020

Stiff person syndrome (SPS) is a rare neurologic disorder characterized by progressively worsening rigidity and spasms of the axial and limb muscles. Dyspnea has been recently recognized as a common symptom in SPS,1 and life-threatening respiratory crises have been occasionally reported and suspected to be responsible for sudden death in these patients.2,3 The pathophysiologic mechanisms of these respiratory manifestations remain unclear. Some authors have hypothesized that rigidity and/or spasm of the muscles of the trunk could prevent normal rib cage movements and excursion of the diaphragm.1

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-…

2021

Importance: Truncating variants in the gene encoding filamin C (FLNCtv) are associated with arrhythmogenic and dilated cardiomyopathies with a reportedly high risk of ventricular arrhythmia.Objective: To determine the frequency of and risk factors associated with adverse events among FLNCtv carriers compared with individuals carrying TTN truncating variants (TTNtv).Design, Setting, and Participants: This cohort study recruited 167 consecutive FLNCtv carriers and a control cohort of 244 patients with TTNtv matched for left ventricular ejection fraction (LVEF) from 19 European cardiomyopathy referral units between 1990 and 2018. Data analyses were conducted between June and October, 2020.Main…