Video-based Goniometer Applications for Measuring Knee Joint Angles during Walking in Neurological Patients: A Validity, Reliability and Usability Study

: Easy-to-use evaluation of Range Of Motion (ROM) during walking is necessary to make decisions during neurological rehabilitation programs and during follow-up visits in clinical and remote settings. This study discussed goniometer applications (DrGoniometer and Angles - Video Goniometer) that measure knee joint ROM during walking through smartphone cameras. The primary aim of the study is to test the inter-rater and intra-rater reliability of the collected measurements as well as their concurrent validity with an electro-goniometer. The secondary aim is to evaluate the usability of the two mobile applications. A total of 22 patients with Parkinson's disease (18 males, age 72 (8) years), 22 post-stroke patients (17 males, age 61 (13) years), and as many healthy volunteers (8 males, age 45 (5) years) underwent knee joint ROM evaluations during walking. Clinicians and inexperienced examiners used the two mobile applications to calculate the ROM, and then rated their perceived usability through the System Usability Scale (SUS). Intraclass correlation coefficients (ICC) and correlation coefficients (corr) were calculated. Both applications showed good reliability (ICC > 0.69) and validity (corr > 0.61), and acceptable usability (SUS > 68). Smartphone-based video goniometers could be used to assess the knee ROM during walking in neurological patients, because of their acceptable degree of reliability, validity and usability

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia

Copyright @ 2013 Li et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and an insufficiency of the mitochondrial protein frataxin. There is a correlation between expansion length, the amount of residual frataxin and the severity of disease. As the coding sequence is unaltered, pharmacological up-regulation of FXN expression may restore frataxin to therapeutic levels. To facilitate screening of compounds that modulate FXN expression in a physiologically relevant manner, we established a cellular genomic reporter assay consisting of a stable human cell line containing an FXN-EGFP fusion construct, in which the EGFP gene is fused in-frame with the entire normal human FXN gene present on a BAC clone. The cell line was used to establish a fluorometric cellular assay for use in high throughput screening (HTS) procedures. A small chemical library containing FDA-approved compounds and natural extracts was screened and analyzed. Compound hits identified by HTS were further evaluated by flow cytometry in the cellular genomic reporter assay. The effects on FXN mRNA and frataxin protein levels were measured in lymphoblast and fibroblast cell lines derived from individuals with FRDA and in a humanized GAA repeat expansion mouse model of FRDA. Compounds that were established to increase FXN gene expression and frataxin levels included several anti-cancer agents, the iron-chelator deferiprone and the phytoalexin resveratrol.Muscular Dystrophy Association (USA), the National Health and Medical Research Council (Australia), the Friedreich’s Ataxia Research Alliance (USA), the Brockhoff Foundation (Australia), the Friedreich Ataxia Research Association (Australasia), Seek A Miracle (USA) and the Victorian Government’s Operational Infrastructure Support Program

Highly Polymorphic Materials and Dissolution Behaviour: The Peculiar Case of Rifaximin

Rifaximin is a locally acting antibiotic practically insoluble in water. It presents several crystal phases characterized by different degrees of hydration. The aim of this work is to investigate the dissolution behaviour of rifaximin α, β, and amorphous forms in relation to their relative thermodynamic stability to contribute to clarifying possible solvent- or humidity-mediated conversion patterns. Kinetic and intrinsic solubility were investigated along with particle size distribution, specific surface area, and external morphology. The solution and moisture mediated conversion from metastable α and amorphous forms to stable β form were elucidated by coupling intrinsic dissolution test with chemometric analysis as well as by dynamic vapour sorption measurements. The dissolution behaviour of the α form stems mainly from the transition to β form that occurs upon exposition to relative humidity higher than 40%. The α form converted more rapidly than the amorphous form due to the smaller supersaturation ratio. It can be concluded that, due to its marked tendency to transform into β form, the dissolution test for the α form, even if conducted according to compendial procedures, needs to be accompanied by a panel of further tests that allow to uniquely identify the solid phase under investigation

Validation of Pressure-Sensing Insoles in Patients with Parkinson’s Disease during Overground Walking in Single and Cognitive Dual-Task Conditions

There is a need for unobtrusive and valid tools to collect gait parameters in patients with Parkinson’s disease (PD). The novel promising tools are pressure-sensing insoles connected to a smartphone app; however, few studies investigated their measurement properties during simple or challenging conditions in PD patients. This study aimed to examine the validity and reliability of gait parameters computed by pressure-sensing insoles (FeetMe® insoles, Paris, France). Twenty-five PD patients (21 males, mean age: 69 (7) years) completed two walking assessment sessions. In each session, participants walked on an electronic pressure-sensitive walkway (GaitRite®, CIR System Inc., Franklin, NJ, USA) without other additional instructions (i.e., single-task condition) and while performing a concurrent cognitive task (i.e., dual-task condition). Spatiotemporal gait parameters were measured simultaneously using the pressure-sensing insoles and the electronic walkway. Concurrent validity was assessed by correlation coefficients and Bland–Altman methodology. Test–retest reliability was examined by intraclass correlation coefficients (ICC) and minimal detectable changes (MDC). The validity results showed moderate to excellent correlations and good agreement between the two systems. Concerning test–retest reliability, moderate-to-excellent ICC values and acceptable MDC demonstrated the repeatability of the measured gait parameters. Our findings support the use of these insoles as complementary instruments to conventional tools during single and dual-task conditions

Concentrations of polychlorinated dibenzodioxins, polychlorodibenzofurans, and polychlorobiphenyls in women of reproductive age in Italy: A human biomonitoring study

Background: Polychlorinated dibenzodioxins (PCDDs), polychlorodibenzofurans (PCDFs), and polychlorobiphenyls (PCBs) are persistent organic pollutants that represent a major concern for women of reproductive age because of the neurodevelopmental effects associated to perinatal exposure. Objectives: This study was aimed at characterizing exposure of women of reproductive age to PCDDs, PCDFs, and PCBs as a function of residence in different Italian Regions, in areas at presumable different environmental contamination and human exposure to these pollutants. Methods: Study participants were enrolled in 2011-2012 in 6 Italian Regions representative of Northern, Central and Southern Italy; in each region, areas at presumed different exposure (rural, urban and industrial) were selected for enrolment. Each participant provided a serum sample for the analysis of PCDDs, PCDFs and PCBs. Results: Median concentrations of PCDDs + PCDFs, DL-PCBs, NDL6-PCBs and NDL9-PCBs in serum samples were respectively 6.0 and 3.5 pgWHO-TE05/g fat, and 75 and 93 ng/g fat. Age was the variable that most affected median serum concentrations. Age adjusted concentrations were found significantly different between geographical zones: women from Northern Italy showed the highest values, followed by Central and Southern Italy. PCDDs + PCDFs concentrations were significantly higher in the group of women residing in industrial areas compared to the group residing in rural areas. A clear diminishing temporal trend was observed compared to levels reported in previous studies. Conclusions: This study produced the largest dataset on serum concentrations of PCDDs, PCDFs and PCBs in women of childbearing age in Italy. Results: confirmed that environmental and lifestyle factors may influence exposure to these contaminants and thereby the body burden. The observed marked temporal decline in body burden during three decades is in agreement with the general trend observed worldwide

Assessment of self-reported and objective daytime sleepiness in adult-onset myotonic dystrophy type 1

Study objectives: Excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 is mostly of central origin but it may coexist with sleep-related breathing disorders. However, there is no consensus on the sleep protocols to be used, assessments vary, and only a minority of patients are regularly tested or are on treatment for EDS. Our study presents data on self-reported and objective EDS in adult-onset myotonic dystrophy type 1. Methods: Sixty-three patients with adult-onset DM1 were subjected to EDS-sleep assessments (polysomnography, Multiple Sleep Latency Test, Epworth Sleepiness Scale). Correlation coefficients were computed to assess the relationship between sleep and sleepiness test results, fatigue, and quality of life. Results: 33% and 48% of patients had EDS based, respectively, on the Epworth Sleepiness Scale and the Multiple Sleep Latency Test, with a low concordance between these tests (k = 0.19). Thirteen patients (20%) displayed 2 or more sleep-onset rapid eye movement periods on Multiple Sleep Latency Test. Patients having EDS by Multiple Sleep Latency Test had a shorter disease duration (P < .05), higher total sleep time and sleep efficiency and lower wake after sleep onset on polysomnography. Patients with self-reported EDS reported significantly higher fatigue score compared with patients without EDS (P < .05). No other difference was found in demographic, clinical, and respiratory features. Conclusions: EDS test results are contradictory, making treatment options difficult. Combining quantitative tests and self-reported scales may facilitate physicians in planning EDS care with patients and families. Citation: Sansone VA, Proserpio P, Mauro L, et al. Assessment of self-reported and objective daytime sleepiness in adult-onset myotonic dystrophy type 1. J Clin Sleep Med. 2021;17(12):2383-2391