Long-Term Use of a Sensory Prosthesis Improves Function in a Patient With Peripheral Neuropathy: A Case Report

Background: Peripheral neuropathy (PN) can result in either partial or complete loss of distal sensation resulting in an increased fall risk. Walkasins® uses a shoe insert to detect the magnitude and direction of sway and sends signals to a leg unit that provides sensory balance cues. The objective of this case report is to describe the long-term influence of the Walkasins® lower limb sensory neuroprosthesis on balance and gait for an individual with diabetic PN.Case Description: A 51-year-old male with a 3-year history of PN and a 10-year history of type II diabetes mellitus was fitted bilaterally with Walkasins® and utilized them 8–10 hours/day for more than 2 years. Although, vibration and tactile sensation thresholds were severely impaired at his 1st metatarsophalangeal joint and the lateral malleolus bilaterally he could perceive tactile stimuli from the Walkasins® above the ankles.Outcomes: Following Walkasins® use, his Activities-specific Balance Confidence Scale (ABC) scores improved from 33 to 80%. His mean Vestibular Activities of Daily Living (VADL) scores decreased from 3.54 to 1. His Functional Gait Assessment (FGA) scores increased from 13/30 to 28/30 and his miniBESTest scores improved from 15/28 to 26/28. Gait speed increased from 0.23 to 1.5 m/s. The patient described a decrease in pain and cramping throughout his lower extremities and an increase in function.Discussion: Gait and balance improved with the use of the Walkasins® and participation in a wellness program. This improvement suggests that the use of sensory substitution devices, such as the Walkasins®, may replace sensory deficits related to gait and balance dysfunction experienced by patients with PN. Further research is needed to determine if other patients will have a similar response and what the necessary threshold of sensory function is to benefit from use of the Walkasins®

Brief communication: Small-scale geohazards cause significant and highly variable impacts on emotions

The impact of geohazards on the mental health of local populations is well recognised but understudied. We used natural language processing (NLP) of Twitter (now known as X) posts (n=10 341) to analyse the sentiments expressed in relation to a pre-eruptive seismic unrest and a subsequent volcanic eruption in Iceland in 2019–2021. We show that although these geohazards were of a small size and caused negligible material damage, they were associated with a measurable change in expressed emotions in the local population. The seismic unrest was associated with predominantly negative sentiments (positive-to-negative sentiment ratio of 1:1.3), but the eruption was associated with predominantly positive sentiments (positive-to-negative sentiment ratio of 1.4:1). We demonstrate a cost-effective tool for gauging public discourse that could be used in risk management

Development of a Protocol to Test Proprioceptive Utilization as a Predictor for Sensorimotor Adaptability

Astronauts returning from space flight show significant inter-subject variations in their abilities to readapt to a gravitational environment because of their innate sensory weighting. The ability to predict the manner and degree to which each individual astronaut will be affected would improve the effectiveness of countermeasure training programs designed to enhance sensorimotor adaptability. We hypothesize participant's ability to utilize individual sensory information (vision, proprioception and vestibular) influences adaptation in sensorimotor performance after space flight. The goal of this study is to develop a reliable protocol to test proprioceptive utilization in a functional postural control task. Subjects "stand" in a supine position while strapped to a backpack frame holding a friction-free device using air-bearings that allow the subject to move freely in the frontal plane, similar to when in upright standing. The frame is attached to a pneumatic cylinder, which can provide different levels of a gravity-like force that the subject must balance against to remain "upright". The supine posture with eyes closed ensures reduced vestibular and visual contribution to postural control suggesting somatosensory and/or non-otolith vestibular inputs will provide relevant information for maintaining balance control in this task. This setup is called the gravity bed. Fourteen healthy subjects carried out three trials each with eyes open alternated with eyes closed, "standing" on their dominant leg in the gravity bed environment while loaded with 60 percent of their body weight. Subjects were instructed to: "use your sense of sway about the ankle and pressure changes under the foot to maintain balance." Maximum length of a trial was 45 seconds. A force plate underneath the foot recorded forces and moments during the trial and an inertial measurement unit (IMU) attached on the backpack's frame near the center of mass of the subject recorded upper body postural responses. Series of linear and non-linear analyses were carried out on several force plate and IMU data including stabilogram diffusion analysis on the center of pressure (COP) to find a subset of parameters that were sensitive to detect differences in postural performance between eyes open and closed conditions. Results revealed that seven parameters (root mean square (RMS) of medio-lateral (ML) COP, range of ML COP, RMS of roll moment, range of trunk roll, minimum time-to-boundary (TTB), integrated TTB, and critical mean square planar displacement (delta r (sup 2) (sub c)) were significantly different between eyes open and closed conditions. We will present data to show the efficacy of using performance in single leg stance with eyes closed on the gravity bed to assess individuals' ability to utilize proprioceptive information in a functional postural control task to predict re-adaptation for sensorimotor and functional performance

The Functionality Verification through Pilot Human Subject Testing of MyFlex-δ: An ESR Foot Prosthesis with Spherical Ankle Joint

Most biomechanical research has focused on level-ground walking giving less attention to other conditions. As a result, most lower limb prosthesis studies have focused on sagittal plane movements. In this paper, an ESR foot is presented, of which five different stiffnesses were optimized for as many weight categories of users. It is characterized by a spherical ankle joint, with which, combined with the elastic elements, the authors wanted to create a prosthesis that gives the desired stiffness in the sagittal plane but at the same time, gives flexibility in the other planes to allow the adaptation of the foot prosthesis to the ground conditions. The ESR foot was preliminarily tested by participants with transfemoral amputation. After a brief familiarization with the device, each participant was asked to wear markers and to walk on a sensorized treadmill to measure their kinematics and kinetics. Then, each participant was asked to leave feedback via an evaluation questionnaire. The measurements and feedback allowed us to evaluate the performance of the prosthesis quantitatively and qualitatively. Although there were no significant improvements on the symmetry of the gait, due also to very limited familiarization time, the participants perceived an improvement brought by the spherical ankle joint

Sensorimotor Predictors of Post-Landing Functional Task Performance

Spaceflight drives adaptive changes in healthy individuals appropriate for sensorimotor function in a microgravity environment. These changes are maladaptive for return to earth's gravity. The inter-individual variability of sensorimotor decrements is striking, although poorly understood. The goal of this study is to identify a set of behavioral, neuroimaging and genetic measures that can potentially be used to predict early performance following G-transitions such as return to Earth on a set of sensorimotor tasks. Astronauts are being recruited who previously participated in sensorimotor field tests and/or dynamic posturography (MedB) within R+1 days following long-duration spaceflight

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am J Hum Genet 99(3):683-694, 2016). UBA5 encodes an activating enzyme for a post-translational modification mechanism known as ufmylation, and is the first gene from the ufmylation pathway that is linked to disease.We sequenced the genomes of two sisters with early-onset epileptic encephalopathy along with their unaffected parents in an attempt to find a genetic cause for their condition. The sisters, born in 2004 and 2006, presented with infantile spasms at six months of age, which later progressed to recurrent, treatment-resistant seizures. We detected a compound heterozygous genotype in UBA5 in the sisters, a genotype not seen elsewhere in an Icelandic reference set of 30,067 individuals nor in public databases. One of the mutations, c.684G > A, is a paternally inherited exonic splicing mutation, occuring at the last nucleotide of exon 7 of UBA5. The mutation is predicted to disrupt the splice site, resulting in loss-of-function of one allele of UBA5. The second mutation is a maternally inherited missense mutation, p.Ala371Thr, previously reported as pathogenic when in compound heterozygosity with a loss-of-function mutation in UBA5 and is believed to produce a hypomorphic allele. Supportive of this, we have identified three adult Icelanders homozygous for the p.Ala371Thr mutation who show no signs of neurological disease.We describe compound heterozygous mutations in the UBA5 gene in two sisters with early-onset epileptic encephalopathy. To our knowledge, this is the first description of mutations in UBA5 since the initial discovery that pathogenic biallelic variants in the gene cause early-onset epileptic encephalopathy. We further provide confirmatory evidence that p.Ala371Thr is a hypomorphic mutation, by presenting three adult homozygotes who show no signs of neurological disease

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.

Efst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesLumbar disc herniation (LDH) is common and often debilitating. Microdiscectomy of herniated lumbar discs (LDHsurg) is performed on the most severe cases to resolve the resulting sciatica. Here we perform a genome-wide association study on 4,748 LDHsurg cases and 282,590 population controls and discover 37 highly correlated markers associating with LDHsurg at 8q24.21 (between CCDC26 and GSDMC), represented by rs6651255[C] (OR=0.81; P=5.6 × 10(-12)) with a stronger effect among younger patients than older. As rs6651255[C] also associates with height, we performed a Mendelian randomization analysis using height polygenic risk scores as instruments to estimate the effect of height on LDHsurg risk, and found that the marker's association with LDHsurg is much greater than predicted by its effect on height. In light of presented findings, we speculate that the effect of rs6651255 on LDHsurg is driven by susceptibility to developing severe and persistent sciatica upon LDH.European Commission National Institutes of Healt

Sequence variant at 4q25 near PITX2 associates with appendicitis.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesAppendicitis is one of the most common conditions requiring acute surgery and can pose a threat to the lives of affected individuals. We performed a genome-wide association study of appendicitis in 7,276 Icelandic and 1,139 Dutch cases and large groups of controls. In a combined analysis of the Icelandic and Dutch data, we detected a single signal represented by an intergenic variant rs2129979 [G] close to the gene PITX2 associating with increased risk of appendicitis (OR = 1.15, P = 1.8 × 10(-11)). We only observe the association in patients diagnosed in adulthood. The marker is close to, but distinct from, a set of markers reported to associate with atrial fibrillation, which have been linked to PITX2. PITX2 has been implicated in determination of right-left symmetry during development. Anomalies in organ arrangement have been linked to increased prevalence of gastrointestinal and intra-abdominal complications, which may explain the effect of rs2129979 on appendicitis risk

Predictive Measures of Locomotor Performance on an Unstable Walking Surface

Locomotion requires integration of visual, vestibular, and somatosensory information to produce the appropriate motor output to control movement. The degree to which these sensory inputs are weighted and reorganized in discordant sensory environments varies by individual and may be predictive of the ability to adapt to novel environments. The goals of this project are to: 1) develop a set of predictive measures capable of identifying individual differences in sensorimotor adaptability, and 2) use this information to inform the design of training countermeasures designed to enhance the ability of astronauts to adapt to gravitational transitions improving balance and locomotor performance after a Mars landing and enhancing egress capability after a landing on Earth