Introduction: Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management.
Methods: In this study, we report a case of a patient with CNOT3 -related NDD who presented with progressive aortic dilatation, a feature not reported previously.
IEEE J Transl Eng Health Med
October 2023
Background: Accidental falls are a major health issue in older people. One significant and potentially modifiable risk factor is reduced gait stability. Clinicians do not have sophisticated kinematic options to measure this risk factor with simple and affordable systems.
View Article and Find Full Text PDFBackground: Although digital approaches for disease prevention in older people have a high potential and are being used more often, there are still inequalities in access and use. One reason could be that in technology development future users are insufficiently taken into consideration, or involved very late in the process using inappropriate methods. The aim of this work was to analyze the motivation of older people participating, and their perceptions of future participation in the research and development process of health technologies aimed at health care for older people.
View Article and Find Full Text PDFIntroduction: During the first wave of the COVID-19 pandemic in March 2020, worldwide restrictions in social life, including the closure of sport facilities, led to a reduction of physical activity and subjective well-being. The aim of this study is to describe physical training habits, and subjective well-being in relation to objective training data from a chip-controlled fitness circuit in the rural area of Oldenburg, Germany.
Materials And Methods: Overall, 35 older adults (20 women 71 ± 6 y/o and 15 men, 72 ± 7 y/o), regularly exercising in a chip-controlled fitness circuit before the lockdown in March 2020, were interviewed.
Introduction: In the context of the COVID-19 pandemic in Germany, governmental restrictions led to the closure of sports facilities for several months. To date, only subjective and fitness-tracking related data on physical activity during the pandemic are available. Using data of a chip-controlled fitness circuit, training data as a measure of physical performance before and after the lockdown during the first wave of the COVID-19 pandemic will show the impact of the training interruption on exercise performance in middle-aged and older adults.
View Article and Find Full Text PDFMuscle activation and movements performed during occupational work can lead to musculoskeletal disorders, one of the nursing profession's most significant health hazards. However, physical activity like exercise training tailored to the exposure and physical ability offers health prevention and rehabilitation. Professional nursing associations have advised squat training to promote occupational health because it strengthens lower limb and back muscles.
View Article and Find Full Text PDFBackground: When older adults fall below the thresholds of functional geriatric assessment (FGA), they may already be at risk of mobility impairment. A reduction in (jumping) power could be an indication of functional decline, one of the main risk factors for falls.
Objective: This paper explores whether six-month delta (∆) values of muscle power can predict 24-month follow-up FGA in older adults.
Background: Falls are a leading cause for emergency department (ED) visits in older adults. As a fall is associated with a high risk of functional decline and further falls and many falls do not receive medical attention, the ED is ideal to initiate secondary prevention, an opportunity generally not taken. Data on trajectories to identify patients, who would profit the most form early intervention and to examine the impact of a fall event, are lacking.
View Article and Find Full Text PDFManual patient handling is one of the most significant challenges leading to musculoskeletal burden among healthcare workers. Traditional working techniques could be enhanced by innovations that can be individually adapted to the physical capacity of nurses. We evaluated the use of a robotic system providing physical relief by collaboratively assisting nurses in manual patient handling tasks.
View Article and Find Full Text PDFComprehensive measurements are needed in older populations to detect physical changes, initiate prompt interventions, and prevent functional decline. While established instruments such as the Timed Up and Go (TUG) and 5 Times Chair Rise Test (5CRT) require trained clinicians to assess corresponding functional parameters, the unsupervised screening system (USS), developed in a two-stage participatory design process, has since been introduced to community-dwelling older adults. In a previous article, we investigated the USS's measurement of the TUG and 5CRT in comparison to conventional stop-watch methods and found a high sensitivity with significant correlations and coefficients ranging from 0.
View Article and Find Full Text PDFBackground And Objective: Restrictions in public life during the COVID-19 pandemic mainly addressed the safety of high-risk older multimorbid patients to protect them from infection. Nevertheless, detrimental aspects of the lockdown for older people are a reduction in physical activity and limited access to physiotherapy, which are likely to have a negative impact on the health status. This study examined the feasibility of video-based physiotherapy (VT) and the subjective rating of VT by patients and therapists.
View Article and Find Full Text PDFSince older adults are prone to functional decline, using Inertial-Measurement-Units (IMU) for mobility assessment score prediction gives valuable information to physicians to diagnose changes in mobility and physical performance at an early stage and increases the chances of rehabilitation. This research introduces an approach for predicting the score of the Timed Up & Go test and Short-Physical-Performance-Battery assessment using IMU data and deep neural networks. The approach is validated on real-world data of a cohort of 20 frail or (pre-) frail older adults of an average of 84.
View Article and Find Full Text PDFStud Health Technol Inform
June 2020
Manual patient handling is one of the physiological risk factors in care. The scientific focus so far, has primarily been on the analysis of lumbar compression during manual caregiving in order to improve the transfer facilitation of caregivers through technical systems. Reference is made in this context to the supportive functional role of the muscles of the lower limb.
View Article and Find Full Text PDFComprehensive and repetitive assessments are needed to detect physical changes in an older population to prevent functional decline at the earliest possible stage and to initiate preventive interventions. Established instruments like the Timed "Up & Go" (TUG) Test and the Sit-to-Stand Test (SST) require a trained person (e.g.
View Article and Find Full Text PDFAn early detection of functional decline with age is important to start interventions at an early state and to prolong the functional fitness. In order to assure such an early detection, functional assessments must be conducted on a frequent and regular basis. Since the five time chair rise test (5CRT) is a well-established test in the geriatric field, this test should be supported by technology.
View Article and Find Full Text PDFIndian J Dermatol Venereol Leprol
May 2018
Background: A major challenge in the management of adult Henoch-Schönlein purpura is the difficulty in assessing the risk of systemic involvement. There is currently a paucity of data in this area.
Aims: This study sought to determine specific clinical and histopathological features associated with systemic involvement in adult Henoch-Schönlein purpura.