Search results for " tools"
showing 10 items of 331 documents
Functional Inactivation of the Genome-Wide Association Study Obesity Gene Neuronal Growth Regulator 1 in Mice Causes a Body Mass Phenotype
2012
To date, genome-wide association studies (GWAS) have identified at least 32 novel loci for obesity and body mass-related traits. However, the causal genetic variant and molecular mechanisms of specific susceptibility genes in relation to obesity are yet to be fully confirmed and characterised. Here, we examined whether the candidate gene NEGR1 encoding the neuronal growth regulator 1, also termed neurotractin or Kilon, accounts for the obesity association. To characterise the function of NEGR1 for body weight control in vivo, we generated two novel mutant mouse lines, including a constitutive NEGR1-deficient mouse line as well as an ENU-mutagenised line carrying a loss-of-function mutation …
Transforming RNA-Seq Data to Improve the Performance of Prognostic Gene Signatures
2014
Gene expression measurements have successfully been used for building prognostic signatures, i.e for identifying a short list of important genes that can predict patient outcome. Mostly microarray measurements have been considered, and there is little advice available for building multivariable risk prediction models from RNA-Seq data. We specifically consider penalized regression techniques, such as the lasso and componentwise boosting, which can simultaneously consider all measurements and provide both, multivariable regression models for prediction and automated variable selection. However, they might be affected by the typical skewness, mean-variance-dependency or extreme values of RNA-…
Frailty syndrome and pre-operative risk evaluation: A systematic review
2015
Abstract Background Frailty is a geriatric syndrome characterized by the clinical presentation of identifiable physical alterations and decreased physiological reserve. The assessment of frailty syndrome has been recently related with post-surgical outcomes and overall mortality in older individuals. Design and data sources We performed searches in Pubmed, Embase, Scopus, SCIELO and IME (Spanish medical index) databases from their start dates to February 2014 for original papers about the identification of the relationship between frailty and pre-operative risk evaluation in people aged 65 and over. Review methods We followed criteria of systematic PRISMA guidelines. Two independent reviewe…
Diagnostic Accuracy and Usability of the ECG247 Smart Heart Sensor Compared to Conventional Holter Technology
2021
Background. Heart rhythm disorders, especially atrial fibrillation (AF), are increasing global health challenges. Conventional diagnostic tools for assessment of rhythm disorders suffer from limited availability, limited test duration time, and usability challenges. There is also a need for out-of-hospital investigation of arrhythmias. Therefore, the Norwegian ECG247 Smart Heart Sensor has been developed to simplify the assessment of heart rhythm disorders. The current study aimed to evaluate the diagnostic accuracy and usability of the ECG247 Smart Heart Sensor compared to conventional Holter monitors. Methods. Parallel tests with ECG247 Smart Heart Sensor and a Holter monitor were perform…
Arch expansion with the Invisalign system: Efficacy and predictability.
2020
Background In adult patients, treatment of skeletal crossbite requires combined treatment by fixed or removable appliances and orthognathic surgery. In cases of dentoalveolar crossbite, expansion can be achieved with fixed multibrackets and removable transparent aligners. Various researchers have already assessed the Invisalign system’s predictability for arch expansion. However, most of this research was conducted using older appliances, making it necessary to assess the characteristics of the updated system SmartTrack. Material and methods A sample of 114 patients with transverse malocclusion were treated with SmartTrack. The predictability of the system’s software (Clincheck) was assess…
Application of multivariant decision tree technique in high performance football: The female and male corner kick.
2019
The use of multidimensional statistical technique based on decision trees is of recent application in sports science. In the case of football, this technique has not yet been sufficiently proven. The aim of the present study was to search for different success models for the cor- ners in the FIFA World Cup 2014 and FIFA Women's World Cup 2015. For this, the statistical analysis focused on the search for classification models for the different criteria considered (shot, shot between the three posts and goal), based on the creation of different decision trees that allow the most important variables to be identified quickly and efficiently. For this, 1117 corners were collected between the two…
Comparison of blood lactate and perceived exertion responses in two matched time-under-tension protocols.
2019
PurposeThe aim of this study was to compare the concentration of blood lactate [bLa-] and the subjective perception of exertion of trained men in a moderate repetition protocol (MRP) versus a high repetition protocol (HRP) equated for time under tension.MethodsA sample of 40 healthy young men (aged, 23.2 ± 4.0 years; height, 177.3 ± 7.0 cm; BMI, 24.3 ± 2.2) performed two sessions of 8 sets of bicep curls with a one-week recovery interval between the trials. In the HRP protocol, 20 repetitions were performed with a cadence of 2 seconds of eccentric and 1 second of concentric, while in the MRP protocol 10 repetitions were performed with 4 seconds of eccentric and 2 seconds of concentric. Cade…
Minimal clinically important difference and minimal detectable change of the World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0…
2020
Objectives: The aim of this study is to estimate a minimal clinically important difference (MCID) and a minimal detectable change (MDC) of the 12-item WHODAS 2.0 amongst patients with chronic musculoskeletal pain. Design: Cross-sectional cohort study. Setting: Outpatient Physical and Rehabilitation Medicine clinic. Subjects: A total of 1988 consecutive patients with musculoskeletal pain. Interventions: A distribution-based approach was employed to estimate a minimal clinically important difference, a minimal detectable change, and a minimal detectable percent change (MDC%). Results: The mean age of the patients was 48 years, and 65% were women. The average intensity of pain was 6,3 (2.0) po…
The Molecular Genetic Architecture of Self-Employment
2013
Economic variables such as income, education, and occupation are known to affect mortality and morbidity, such as cardiovascular disease, and have also been shown to be partly heritable. However, very little is known about which genes influence economic variables, although these genes may have both a direct and an indirect effect on health. We report results from the first large-scale collaboration that studies the molecular genetic architecture of an economic variable-entrepreneurship-that was operationalized using self-employment, a widely-available proxy. Our results suggest that common SNPs when considered jointly explain about half of the narrow-sense heritability of self-employment es…
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvi…
2015
Background Familial hypercholesterolemia (FH) is one of the commonest monogenic disorders, predominantly inherited as an autosomal dominant trait. When untreated, it results in early coronary heart disease. The vast majority of FH remains undiagnosed in Latvia. The identification and early treatment of affected individuals remain a challenge worldwide. Most cases of FH are caused by mutations in one of four genes, APOB, LDLR, PCSK9, or LDLRAP1. The spectrum of disease-causing variants is very diverse and the variation detection panels usually used in its diagnosis cover only a minority of the disease-causing gene variants. However, DNA-based tests may provide an FH diagnosis for FH patients…