Late adult-onset of X-linked myopathy with excessive autophagy.

INTRODUCTION: X-linked myopathy with excessive autophagy (XMEA) is characterized by autophagic vacuoles with sarcolemmal features. Mutations in VMA21 result in insufficient lysosome acidification, causing progressive proximal weakness with onset before age 20 years and loss of ambulation by middle age. METHODS: We describe a patient with onset of slowly progressive proximal weakness of the lower limbs after age 50, who maintains ambulation with the assistance of a cane at age 71. RESULTS: Muscle biopsy at age 66 showed complex muscle fiber splitting, internalized capillaries, and vacuolar changes characteristic of autophagic vacuolar myopathy. Vacuoles stained positive for sarcolemmal proteins, LAMP2, and complement C5b-9. Ultrastructural evaluation further revealed basal lamina reduplication and extensive autophagosome extrusion. Sanger sequencing identified a known pathologic splice site mutation in VMA21 (c.164-7T>G). CONCLUSIONS: This case expands the clinical phenotype of XMEA and suggests VMA21 sequencing be considered in evaluating men with LAMP2-positive autophagic vacuolar myopathy.

Modeling, Control, and Clinical Validation of an Upper-Limb Medical Education Task Trainer for Elbow Spasticity and Rigidity Assessment.

The goal of this study was to validate a series elastic actuator (SEA)-based robotic arm that can mimic three abnormal muscle behaviors, namely lead-pipe rigidity, cogwheel rigidity, and spasticity for medical education training purposes. Key characteristics of each muscle behavior were first modeled mathematically based on clinically-observed data across severity levels. A controller that incorporated feedback, feedforward, and disturbance observer schemes was implemented to deliver haptic target muscle resistive torques to the trainee during passive stretch assessments of the robotic arm. A series of benchtop tests across all behaviors and severity levels were conducted to validate the torque estimation accuracy of the custom SEA (RMSE: ~ 0.16 Nm) and the torque tracking performance of the controller (torque error percentage: < 2.8 %). A clinical validation study was performed with seven experienced clinicians to collect feedback on the task trainer's simulation realism via a Classification Test and a Disclosed Test. In the Classification Test, subjects were able to classify different muscle behaviors with a mean accuracy > 87 % and could further distinguish severity level within each behavior satisfactorily. In the Disclosed Test, subjects generally agreed with the simulation realism and provided suggestions on haptic behaviors for future iterations. Overall, subjects scored 4.9 out of 5 for the potential usefulness of this device as a medical education tool for students to learn spasticity and rigidity assessment.

Review of assistive devices for the prevention of pressure ulcers: an engineering perspective.

PURPOSE: Pressure ulcers (PUs) are prevalent among immobile bed or wheelchair-reliant individuals who experience prolonged sedentary positions. Pressure relief and frequent repositioning of body posture help to mitigate complications associated with PUs. Adherence with regular repositioning is difficult to maintain due to nursing labour shortages or constraints of in-home caregivers. Manual repositioning, transferring, and lifting of immobile patients are physically demanding tasks for caregivers. This review aimed to explore and categorize these devices, discuss the significant technical challenges that need addressing, and identify potential design opportunities. MATERIALS AND METHODS: In this review, a literature search was conducted using PubMED, Science Direct, Google Scholar and IEEE Xplore databases including studies from 1995 until Feb 2023 with keywords such as pressure ulcer, assistive device, pressure relief, repositioning, transfer, etc. Both commercial and research-level devices were included in the search. RESULTS: 142 devices or technologies were identified and classified into four main categories that were further subcategorized. Within each category, the devices were investigated in terms of their mechanical design, actuation methods, control strategies, sensing technologies, and level of autonomy. Limitations of current technologies are design complexity, lack of patient comfort, and a lack of autonomy requiring caregivers frequent intervention. CONCLUSIONS: Several devices have been developed to help with prevention and mitigation of PUs. There remain challenges that hinder the widespread accessibility and use of current technologies. Advancements in assistive technologies for pressure ulcer mitigation could lie at the intersection of robotics, sensors, perception, user-centered design, and autonomous systems.IMPLICATIONS FOR REHABILITATIONFuture advancements in assistive technologies for pressure ulcer mitigation could lie at the intersection of robotics, sensors, perception, user-centered design, and autonomous systems.Most existing technologies for prevention of pressure ulcers are focused on the mechanical advantage rather than user's needs and preferences. Future designers, engineers, and product developers must be educated to conduct user needs studies concurrently with the development of technology to design the devices based on the user's needs to ensure a balanced design outcome.