Objective To determine the stimulated strength of the paralyzed gluteal and paraspinal muscles and their effects on the seated function of individuals with paralysis. Design Case series with subjects acting as their own concurrent controls. Setting Hospital-based clinical biomechanics laboratory. Participants Eight users of implanted neuroprostheses for lower extremity function with low-cervical or thoracic level injuries. Interventions Dynamometry and digital motion capture both with and without stimulation to the hip and trunk muscles. Main Outcome Measure(s) Isometric trunk extension moment at 0, 15 and 30 degrees of flexion; seated stability in terms of simulated isokinetic rowing; pelvic tilt, shoulder height, loaded and unloaded bimanual reaching to different heights, and subjective ratings of difficulty during unsupported sitting. Results Stimulation produced significant increases in mean trunk extension moment (9.2±9.5Nm, p=0.0001) and rowing force (27.4±23.1N, p=0.0123) over baseline volitional values. Similarly, stimulation induced positive changes in average pelvic tilt (16.7±15.7deg) and shoulder height (2.2±2.5cm) during quiet sitting and bimanual reaching, and increased mean reach distance (5.5±6.6cm) over all subjects, target heights and loading conditions. Subjects consistently rated tasks with stimulation easier than voluntary effort alone. Conclusions In spite of considerable inter-subject variability, stabilizing the paralyzed trunk with electrical stimulation can positively impact seated posture, extend forward reach and allow exertion of larger forces on objects in the environment.
BackgroundA major desire of individuals with spinal cord injury (SCI) is the ability to maintain a stable trunk while in a seated position. Such stability is invaluable during many activities of daily living (ADL) such as regular work in the home and office environments, wheelchair propulsion and driving a vehicle. Functional neuromuscular stimulation (FNS) has the ability to restore function to paralyzed muscles by application of measured low-level currents to the nerves serving those muscles.MethodsA feedback control system for maintaining seated balance under external perturbations was designed and tested in individuals with thoracic and cervical level spinal cord injuries. The control system relied on a signal related to the tilt of the trunk from the vertical position (which varied between 1.0 ≡ erect posture and 0.0 ≡ most forward flexed posture) derived from a sensor fixed to the sternum to activate the user’s own hip and trunk extensor muscles via an implanted neuroprosthesis. A proportional-derivative controller modulated stimulation between trunk tilt values indicating deviation from the erect posture and maximum desired forward flexion. Tests were carried out with external perturbation forces set at 35%, 40% and 45% body-weight (BW) and maximal forward trunk tilt flexion thresholds set at 0.85, 0.75 and 0.70.ResultsPreliminary tests in a case series of five subjects show that the controller could maintain trunk stability in the sagittal plane for perturbations up to 45% of body weight and for flexion thresholds as low as 0.7. The mean settling time varied across subjects from 0.5(±0.4) and 2.0 (±1.1) seconds. Mean response time of the feedback control system varied from 393(±38) ms and 536(±84) ms across the cohort.ConclusionsThe results show the high potential for robust control of seated balance against nominal perturbations in individuals with spinal cord injury and indicates that trunk control with FNS is a promising intervention for individuals with SCI.
Objective To quantify the effects of stabilizing the paralyzed trunk and pelvis with electrical stimulation on manual wheelchair propulsion. Design Single-subject design case series with subjects acting as their own concurrent controls. Setting Hospital-based clinical biomechanics laboratory. Participants Six (4M, 2F age 46±10.8yrs) long-time users (6.1±3.9yrs) of implanted neuroprostheses for lower extremity function with chronic (8.6±2.8yrs) mid-cervical or thoracic level injuries (C6-T10). Interventions Continuous low level stimulation to the hip (gluteus maximus, posterior adductor or hamstrings) and trunk extensor (lumbar erector spinae and/or quadratus lumborum) muscles with implanted intramuscular electrodes. Main Outcome Measure(s) Pushrim kinetics (peak resultant force, fraction effective force), kinematics (cadence, stroke length and maximum forward lean), and peak shoulder moment at preferred speed over 10m level surface; speed, pushrim kinetics and subjective ratings of effort for level 100m sprints and up a 30.5m ramp of approximately 5% grade. Results Three out of five subjects demonstrated reduced peak resultant pushrim forces (p≤0.014) and improved efficiency, (p≤0.048) with stimulation during self-paced level propulsion. Peak sagittal shoulder moment remained unchanged in three subjects and increased in two others (p<0.001). Maximal forward trunk lean also increased by 19-26% (p<0.001) with stimulation in these three subjects. Stroke lengths were unchanged by stimulation in all subjects, and two showed extremely small (5%) but statistically significant increases in cadence (p≤0.021). Performance measures for sprints and inclines were generally unchanged with stimulation, however subjects consistently rated propulsion with stimulation to be easier for both surfaces. Conclusions Stabilizing the pelvis and trunk with low levels of continuous electrical stimulation to the lumbar trunk and hip extensors can positively impact the mechanics of manual wheelchair propulsion and reduce both perceived and physical measures of effort.
Abstract-Spinal cord injury (SCI) can compromise the ability to maintain an erect seated posture. This study examined the feasibility of a sensor-based threshold controller to automatically modulate stimulation to paralyzed hip and trunk extensor muscles to restore upright sitting from forward leaning postures. Forward trunk tilt was estimated from the anterior-posterior component of gravitational acceleration sensed by a sternum-mounted wireless accelerometer. Stimulation increased if trunk tilt exceeded a specified flexion threshold and ceased once upright sitting was resumed. The controller was verified experimentally in five volunteers with SCI and successfully returned all subjects to upright postures from forward leaning positions. Upper-limb effort exerted while returning to erect posture was significantly reduced (to 7.4% +/-3.7% of body mass) pooled across all volunteers while using the controller compared with using continuous and no stimulation (p < 0.03). Controller response times were consistent among subjects when applied while sitting with (0.30 +/-0.05 s) or without (0.34 +/-0.11 s) a backrest. The controller enabled volunteers to lean farther forward (59.7° +/-16.4°) in wheelchairs without upper-limb effort than with no stimulation. Clinical utility of the system for facilitating reach or preventing falls remains to be determined in future studies.
BackgroundNeurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed model hypothesizes that variation in the levels of protein isoforms generated via alternative transcript processing acts as modifier and contributes to phenotypic variability.ResultsHere we used real-time quantitative PCR to investigate the levels of two major NF1 mRNA isoforms encoding proteins differing in their ability to control RAS signaling (isoforms I and II) in the peripheral blood leukocytes of 138 clinically well-characterized NF1 patients and 138 aged-matched healthy controls. As expected, expression analysis showed that NF1 isoforms I and II levels were significantly lower in patients than controls. Notably, these differences were more evident when patients were stratified according to the severity of phenotype. Moreover, a correlation was identified when comparing the levels of isoform I mRNA and the severity of NF1 features, with statistically significant lower levels associated with a severe phenotype (i.e., occurrence of learning disability/intellectual disability, optic gliomas and/or other neoplasias, and/or cerebrovascular disease) as well as in patients with cognitive impairment.ConclusionsThe present findings provide preliminary evidence for a role of circuits controlling NF1 transcript processing in modulating NF1 expressivity, and document an association between the levels of neurofibromin isoform I mRNA and the severity of phenotype and cognitive impairment in NF1.
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