Search results for " reproducibility"
showing 10 items of 77 documents
Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.
2021
BACKGROUND & AIMS: Fatty liver disease (FLD) is a growing epidemic that is expected to be the leading cause of end-stage liver disease within the next decade. Both environmental and genetic factors contribute to the susceptibility of FLD. Several genetic variants contributing to FLD have been identified in exome-wide association studies. However, there is still a missing hereditability indicating that other genetic variants are yet to be discovered. METHODS: To find genes involved in FLD, we first examined the association of missense and nonsense variants with alanine amino transferase at an exome-wide level in 425,671 participants from the UK Biobank. We then validated genetic variants wit…
Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease
2019
AbstractNonalcoholic fatty liver disease (NAFLD) is a rising cause of hepatocellular carcinoma (HCC). We examined whether inherited pathogenic variants in candidate genes (n = 181) were enriched in patients with NAFLD-HCC. To this end, we resequenced peripheral blood DNA of 142 NAFLD-HCC, 59 NAFLD with advanced fibrosis, and 50 controls, and considered 404 healthy individuals from 1000 G. Pathogenic variants were defined according to ClinVar, likely pathogenic as rare variants predicted to alter protein activity. In NAFLD-HCC patients, we detected an enrichment in pathogenic (p = 0.024), and likely pathogenic variants (p = 1.9*10−6), particularly in APOB (p = 0.047). APOB variants were asso…
Application of a portable instrument for rapid and reliable detection of SARS-CoV-2 infection in any environment
2020
Abstract The ongoing outbreak of the novel coronavirus (SARS‐CoV‐2) infection is creating serious challenges for health laboratories that seek to identify viral infections as early as possible, optimally at the earliest appearance of symptom. Indeed, there is urgent need to develop and deploy robust diagnostic methodologies not only to use in health laboratory environments but also directly in places where humans circulate and spread the virus such as airports, trains, boats, and any public aggregation places. The success of a reliable and sensitive asymptomatic diagnosis relies on the identification and measurement of informative biomarkers from human host and virus in a rapid, sensitive, …
Measuring trunk orientation with a CMOS camera: feasibility and accuracy.
2007
International audience; The purpose of this study was to develop and validate a new tool to objectively quantify trunk orientation at the bedside, especially dedicated to the measurement of the lateropulsion in acute and subacute stroke patients. We developed software to analyze 2D movement with a CMOS camera (Logitech Quickcam Pro 4000) and to calculate the orientation of a segment defined by two color markers. First, the accuracy, reproducibility and noise when measuring segment orientations were evaluated with the CMOS camera placed in different positions, and second trunk orientation was measured in static and in dynamic conditions both with a CMOS camera and with a gold standard 3D vid…
One repetition maximum bench press performance: A new approach for its evaluation in inexperienced males and females: A pilot study
2014
Summary The aim of this study was to evaluate a new method to perform the one repetition maximum (1RM) bench press test, by combining previously validated predictive and practical procedures. Eight young male and 7 females participants, with no previous experience of resistance training, performed a first set of repetitions to fatigue (RTF) with a workload corresponding to 1/3 of their body mass (BM) for a maximum of 25 repetitions. Following a 5-min recovery period, a second set of RTF was performed with a workload corresponding to 1/2 of participants’ BM. The number of repetitions performed in this set was then used to predict the workload to be used for the 1RM bench press test using May…
Gold nanostar–polymer hybrids for siRNA delivery: Polymer design towards colloidal stability and in vitro studies on breast cancer cells
2017
To overcome the low bioavailability of siRNA (small interfering RNA) and to improve their transfection efficiency, the use of non-viral delivery carriers is today a feasible approach to transform the discovery of these incredibly potent and versatile drugs into clinical practice. Polymer-modified gold nanoconstructs (AuNCs) are currently viewed as efficient and safe intracellular delivery carriers for siRNA, as they have the possibility to conjugate the ability to stably entrap and deliver siRNAs inside cells with the advantages of gold nanoparticles, which can act as theranostic agents and radiotherapy enhancers through laser-induced hyperthermia. In this study, AuNCs were prepared by coat…
Middle patellar tendon to posterior cruciate ligament (PT–PCL) and normalized PT–PCL: New magnetic resonance indices for tibial tubercle position in …
2018
BACKGROUND To demonstrate whether the distance between the middle point of the patellar tendon and posterior cruciate ligament (PT-PCL) calculated on a single axial MR image could be an alternative measure to tibial tubercle-PCL (TT-PCL) distance for TT lateralization without the need of imaging processing. To show that normalization of PT-PCL (nPT-PCL) against the maximum diameter of the tibial plateau may help to identify patients with patellar instability (PI). METHODS MR scans of 30 patients (13 females, age 32 ± 13 years) with known PI and 60 patients (31 females, age 39 ± 19 years) with no history of PI were reviewed. Two operators calculated TT-PCL, and PT-PCL nPT-PCL. Intraclass cor…
Confirmatory factor analysis of the Patient Assessment of Constipation-Symptoms (PAC-SYM) among patients with chronic constipation.
2015
Background and aim: PAC-SYM is widely adopted to asses constipation severity. However, it has been validated in a small sample, few items have been included based on expert opinion and not on empirical grounds, and its factor structure has never been replicated. We aimed at evaluating the psychometric properties of PAC-SYM in patients with chronic constipation. Methods: We enrolled 2,203 outpatients with chronic constipation in two waves. We used wave I sample to test the psychometric properties of the PAC-SYM and wave II sample to cross-validate its factor structure, to assess criterion validity, responsiveness to clinical change, and its minimal clinically important difference. Results: O…
Diagnostic performance of qualitative and radiomics approach to parotid gland tumors: which is the added benefit of texture analysis?
2021
Objective: To investigate whether MRI-based texture analysis improves diagnostic performance for the diagnosis of parotid gland tumors compared to conventional radiological approach. Methods: Patients with parotid gland tumors who underwent salivary glands MRI between 2008 and 2019 were retrospectively selected. MRI analysis included a qualitative assessment by two radiologists (one of which subspecialized on head and neck imaging), and texture analysis on various sequences. Diagnostic performances including sensitivity, specificity, and area under the receiver operating characteristic curve (AUROC) of qualitative features, radiologists’ diagnosis, and radiomic models were evaluated. Result…
Electrophysiological Investigations of Shape and Reproducibility of Oropharyngeal Swallowing: Interaction with Bolus Volume and Age
2015
Electrophysiological assessment provides valuable information on physiological and pathophysiological characteristics of human swallowing. Here, new electrophysiological measures for the evaluation of oropharyngeal swallowing were assessed: (1) the activation pattern of the submental/suprahyoid EMG activity (SHEMG); (2) the reproducibility of the oral and pharyngeal phases of swallowing, by calculating the similarity index (SI) of the SHEMG (SI-SHEMG) and of the laryngeal-pharyngeal mechanogram (SI-LPM) during repeated swallows; and (3) kinesiological measures related to the LPM. An electrophysiological-mechanical method for measuring the activation pattern of the SHEMG, the SI-SHEMG, and t…