922017 research outputs found
Sort by
Approach to the Patient with Short Stature: Genetic Testing
No full textThe first step in the evaluation of the short child is to decide whether growth parameters in the context of the history are abnormal or a variant of normal. If growth is considered abnormal, system and hormonal tests are likely to be required, followed by more directed testing, such as skeletal survey and/or genetic screening with karyotype or microarray. In a small percentage of short children in whom a diagnosis has not been reached, this will need to be followed by detailed genetic analysis; currently exome sequencing using targeted panels relevant to the phenotype is the commonly used test. Clinical scenarios are presented that illustrate how such genetic testing can be used to establish a molecular diagnosis, and how that diagnosis contributes to the management of the short child. New genetic causes for short stature are being recognised on a frequent basis, while the clinical spectrum for known genes is being extended. We recommend that an international repository for short stature conditions is established for new findings to aid dissemination of knowledge, but also to help in the definition of the clinical spectrum both for new and established conditions
Meta-Analysis of the Effect of Colchicine on C-Reactive Protein in Patients with Acute and Chronic Coronary Syndromes
No full textObjective: The anti-inflammatory drug Colchicine has recently shown benefits in the prevention of major adverse cardiovascular events (MACE) in patients with acute coronary syndrome (ACS) and chronic coronary syndromes (CCS). This meta-analysis focuses on understanding Colchicine's effects on the high sensitivity C-reactive protein (hs-CRP) to provide mechanistic insight to explain its clinical event reduction.Methods: A computerized search of MEDLINE was conducted to retrieve journal articles with studies performed on humans from January 1, 2005, to January 1, 2022, using keywords: “Colchicine AND Coronary”, “Colchicine AND CRP”, and “Colchicine AND Coronary Artery Disease”. Studies were included if they measured hs-CRP changes from baseline, and Colchicine or placebo were given to patients with ACS or CCS. Results: Thirteen studies with a biomarker subgroup population of 1636 patients were included in the hs-CRP meta-analysis. Of those 13 studies, 8 studies with a total population of 6016 reported clinical events defined as myocardial infarction (MI), stroke, cardiovascular death, periprocedural MI, repeat angina after PCI, and repeat revascularization. . A multivariate analysis revealed a weak negative correlation of -0.1056 (p= 0.805) between change in CRP and clinical events. Overall, colchicine treatment resulted in greater reduction in hs-CRP levels compared with placebo (standardized mean difference [MD-1.59 [95% CI: -2.40, -0.79], p=0.0001) and clinical events (Odds Ratio: 0.78 [0.64, 0.95], p=0.01).Conclusion: Colchicine therapy is associated with a reduction in hs-CRP and clinical events in patients with ACS and CCS. This finding supports colchicine’s anti-inflammatory efficacy via CRP reduction to explain its clinical benefit.<br/
Genetically proxied TYK2 inhibition is associated with reduced sarcoidosis susceptibility
No full text
Introduction for the 5th International Meeting on Internet and Audiology: Special Issue of the American Journal of Audiology
No full textAmygdala responses to negative faces are not associated with depressive symptoms: cross-sectional data from 28 638 individuals in the UK Biobank cohort
No full textMeasuring the structural complexity of music: fromstructural segmentations to the automatic evaluation of models for music generation
No full text
ESBMC-Jimple: Verifying Kotlin Programs via Jimple Intermediate Representation
No full textIn this work, we describe and evaluate the first model checker for verifying Kotlin programs through the Jimple intermediate representation. The verifier, named ESBMC-Jimple, is built on top of the Efficient SMT-based Context-Bounded Model Checker (ESBMC). It uses the Soot framework to obtain the Jimple IR, representing a simplified version of the Kotlin source code, containing a maximum of three operands per instruction. ESBMC-Jimple processes Kotlin source code together with a model of the standard Kotlin libraries and checks a set of safety properties. Experimental results show that ESBMC-Jimple can correctly verify a set of Kotlin benchmarks from the literature and that it is competitive with state-of-theart Java bytecode verifiers. A demonstration is available at https://youtu.be/J6WhNfXvJNc
Modelling and controller design for a five-link inverted pendulum
No full textThe inverted pendulum is a fast-moving, highly nonlinear and unstable system with multiple variables and nonminimum phase that requires effective stabilization controllers. Therefore, studies into inverted pendulum systems theoretically and practically have great significance. The Euler-Lagrange Equation is used to calculate the mathematical model for a five-link inverted pendulum system. Linear Quadratic Gaussian (LQG) and H∞ are implemented using the developed model, with the Kalman Filter serving as the observer. The closed-loop system are simulated by the Matlab-Simscape platform and the controller are evaluated in relation to the system performance