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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. RESULTS: Our patient presented with intellectual disorder, dysmorphic facial features, and cardiac anomalies, notably progressive aortic dilatation - a novel finding in CNOT3-related NDD. Genetic testing identified a de-novo 6.3â kbp intragenic deletion in CNOT3, providing a possible genetic basis for her condition. CONCLUSION: This study presents the first case of CNOT3-related NDD in Southeast Asia, expanding the phenotype to include progressive aortic dilatation and suggesting merit in cardiac surveillance of patients with CNOT3-related NDD. It also emphasizes the importance of genetic testing in diagnosing complex NDD cases as well as reanalysis of 'negative' cases using advanced sequencing technologies to uncover potential hidden genetic etiologies in undiagnosed NDDs.
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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. Depth-imaging with AI-pose estimation can be used for gait analysis in young healthy adults. However, is it applicable for measuring gait in older adults at a risk of falling? METHODS: In this methodological comparison 59 older adults with and without a history of falls walked on a treadmill while their gait pattern was recorded with multiple inertial measurement units and with an Azure Kinect depth-camera. Spatiotemporal gait parameters of both systems were compared for convergent validity and with a Bland-Altman plot. RESULTS: Correlation between systems for stride length (r=.992, [Formula: see text]) and stride time (r=0.914, [Formula: see text]) was high. Bland-Altman plots revealed a moderate agreement in stride length (-0.74 ± 3.68 cm; [-7.96 cm to 6.47 cm]) and stride time (-3.7±54 ms; [-109 ms to 102 ms]). CONCLUSION: Gait parameters in older adults with and without a history of falls can be measured with inertial measurement units and Azure Kinect cameras. Affordable and small depth-cameras agree with IMUs for gait analysis in older adults with and without an increased risk of falling. However, tolerable accuracy is limited to the average over multiple steps of spatiotemporal parameters derived from the initial foot contact. Clinical Translation Statement- Gait parameters in older adults with and without a history of falls can be measured with inertial measurement units and Azure Kinect. Affordable and small depth-cameras, developed for various purposes in research and industry, agree with IMUs in clinical gait analysis in older adults with and without an increased risk of falling. However, tolerable accuracy to assess function or monitor changes in gait is limited to the average over multiple steps of spatiotemporal parameters derived from the initial foot contact.
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Accidentes por Caídas , Análisis de la Marcha , Humanos , Anciano , Accidentes por Caídas/prevención & control , Marcha , Caminata , Prueba de Esfuerzo/métodosRESUMEN
BACKGROUND: 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. METHODOLOGY: Quantitative and qualitative data from one needs assessment and two evaluation studies were analyzed. The quantitative data were analyzed descriptively and the qualitative data were analyzed content-analytically with inductive-deductive category formation. RESULTS: The median age of the 103 participants (50 female) was 75 years (64-90), most of whom were interested in using technology and had prior experience of study participation. Nine categories for participation motivation were derived. A common motivation for participation was to promote and support their own health. Respondents were able to envision participation both at the beginning of the research process and at its end. In terms of technique development, different ideas were expressed, but there was a general interest in technological development. Methods that would enable exchange with others were favored most. CONCLUSIONS: Differences in motivation to participate and ideas about participation were identified. The results provide important information from the perspective of older people and complement the existing state of research.
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Motivación , Humanos , Femenino , Anciano , Persona de Mediana Edad , Anciano de 80 o más Años , Alemania , Investigación Cualitativa , Selección de PacienteRESUMEN
INTRODUCTION: 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. The training data from February to August 2020 from six strength and two endurance exercise devices were extracted and compared to data before and up to three months after the lockdown. Additionally, participants' personal characteristics, physical activities and quality of life before, during, and after the first lockdown were assessed. RESULTS: The leg score (pre, postJune, postJuly, postAugust: 1207 ± 469 kg, 1248 ± 477 kg, 1254 ± 516 kg, 1283 ± 493 kg; p = 0.137) and endurance scores (ergometer: 0.93 ± 0.35 min- 1 · watt- 1, 0.86 ± 0.31 min- 1 · watt- 1, 0.86 ± 0.31 min- 1 · watt- 1, 0.85 ± 0.28 min- 1 · watt- 1 ; p = 0.442) were not significantly different, in contrast to the rowing score (1426 ± 582 kg, 1558 ± 704 kg, 1630 ± 757 kg, 1680 ± 837 kg; p < 0.001). A significant increase of total energy expenditure (p = 0.026), mainly through gardening, walking, and bike riding was observed. The greatest personal limitation reported, was the loss of social contacts. CONCLUSION: The presented data did not show a decrease in training performance, but a slight trend towards an increase. A compensatory increase in regular outdoor activities seems to have a protective effect against a loss of training performance and may have the potential to stabilize subjective well-being during lockdown periods.
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COVID-19 , Calidad de Vida , Masculino , Humanos , Femenino , Anciano , Pandemias , COVID-19/epidemiología , Control de Enfermedades Transmisibles , Aptitud Física , Rendimiento Físico FuncionalRESUMEN
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. The re-training data are analyzed, to extract practical recommendations. Methods: Objective training data of 17,450 participants [11,097 middle-aged (45-64 yrs), 6,353 older (≥65 yrs)] were exported from chip-controlled milon® fitness circuit systems before and after the first COVID-19 related lockdown in Germany. The change in the product of training weight (sum of lifting and lowering the training weight) and repetitions on the leg extension resistance exercise device (leg score) between the last three training sessions before the lockdown and the first ten training sessions after individual training resumption as well as the last training session before the second lockdown in October 2020 was analyzed. Results: Participants who trained with high intensity before the lockdown, experienced deleterious effects of the training interruption (middle-aged group: -218 kg, older group: ~-230.8 kg; p < 0.001 for change in leg score from to post-lockdown) with no age effect. Participants training with a leg score of more than 3,000 kg did not resume their leg score until the second lockdown. Conclusion: The interruption of training in a fitness circuit with combined resistance and endurance training due to the lockdown affected mainly those participants who trained at high intensity. Apparently, high-intensity training could not be compensated by home-based training or outdoor activities. Concepts for high-intensity resistance training during closure of sports facilities are needed to be prepared for future periods of high incidence rates of infectious diseases, while especially vulnerable people feel uncomfortable to visit sports facilities. Trial registration: Identifier, DRKS00022433.
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COVID-19 , Pandemias , Persona de Mediana Edad , Humanos , Anciano , Pandemias/prevención & control , Distanciamiento Físico , COVID-19/epidemiología , COVID-19/prevención & control , Control de Enfermedades Transmisibles , Aptitud Física , Ejercicio FísicoRESUMEN
Muscle 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. Given that squatting is a fundamental part of many daily activities and various actions in caregiving processes, we hypothesized that chair squat performance is a potential predictor of nurses' physical capabilities to perform occupational tasks. We conducted kinetic and electromyographic assessments of 289 chair squat repetitions and compared them to ergonomic patient transfer tasks. In this task, nurses transferred a supine patient to a lateral position in a care bed using similar movement characteristics of the squat task. This cross-sectional pilot study provides initial insights into nurses' kinetic and muscle activation patterns of health-enhancing and compensational strategies. Highly asymmetric movements corresponded to distinct extremes in lower limb and spine muscle activity data-e.g., increased activity of the rectus femoris indicates increased hip flexion, including postural sway and, therefore, high torsional forces affecting the sacroiliac joints. The potential of the chair squat performance as a predictor of nurses' physical capabilities in ergonomic patient transfers was quantified by a 2 × 2 contingency table resulting in an accuracy rate of 73%.
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Enfermeras y Enfermeros , Transferencia de Pacientes , Humanos , Estudios Transversales , Proyectos Piloto , Ergonomía , Electromiografía , Músculo Esquelético/fisiologíaRESUMEN
BACKGROUND: 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. METHODS: This observational study of independent, healthy, high-performing community-dwelling adults aged 70 + years involved FGA (mobility, balance, and endurance tests) at baseline (t0), after 6 months (t1), and after 24 months (t2); maximum jumping power (max JP) was determined at t0 and t1. A predictive linear model was developed in which the percentage change of Δmax JP0,1 was transferred to all FGA (t0) values. The results were compared with measured FGA values at t2 via sensitivity and specificity in terms of the clinically meaningful change (CMC) or the minimal detectable change (MDC). RESULTS: In 176 individuals (60% female, mean age 75.3 years) the mean percentage (SD) between predicted and measured FGA ranged between 0.4 (51.3) and 18.11 (51.9). Sensitivity to identify the CMC or MDC of predicted FGA tests at t2 ranged between 17.6% (Timed up and go) and 75.0% (5-times-chair-rise) in a test-to-test comparison and increased to 97.6% considering clinically conspicuousness on global FGA. CONCLUSION: The potential of jumping power to predict single tests of FGA was low regarding sensitivity and specificity of CMC (or MDC). 6 months Δmax JP seem to be suitable for predicting physical function, if the measured and predicted tests were not compared at the test level, but globally, in the target group in the long term.
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Evaluación Geriátrica , Vida Independiente , Femenino , Humanos , Anciano , Masculino , Estudios de Seguimiento , Estado de Salud , Estudios de CohortesRESUMEN
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. To tailor interventions to the individual's needs and preferences, and to address the whole scope of fall risks, we developed this longitudinal study using an extensive assessment battery including dynamic balance and aerobic fitness, but also sensor-based data. Additionally, participative research will contribute valuable qualitative data, and machine learning will be used to identify trips, slips, and falls in sensor data during daily life. METHODS: This is a mixed-methods study consisting of four parts: (1) an observational prospective study, (2) a randomized controlled trial (RCT) to explore whether a diagnostic to measure reactive dynamic balance influences fall risk, (3) machine learning approaches and (4) a qualitative study to explore patients' and their caregivers' views. We will target a sample size of 450 adults of 60 years and older, who presented to the ED of the Klinikum Oldenburg after a fall and are not hospitalized. The participants will be followed up over 24 months (within four weeks after the ED, after 6, 12 and 24 months). We will assess functional abilities, fall risk factors, participation, quality of life, falls incidence, and physical activity using validated instruments, including sensor-data. Additionally, two thirds of the patients will undergo intensive testing in the gait laboratory and 72 participants will partake in focus group interviews. DISCUSSION: The results of the SeFallED study will be used to identify risk factors with high predictive value for functional outcome after a sentinel fall. This will help to (1) establish a protocol adapted to the situation in the ED to identify patients at risk and (2) to initiate an appropriate care pathway, which will be developed based on the results of this study. TRIAL REGISTRATION: DRKS (Deutsches Register für klinische Studien, DRKS00025949 ). Prospectively registered on 4th November, 2021.
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Servicio de Urgencia en Hospital , Marcha , Anciano , Terapia por Ejercicio , Humanos , Estudios Observacionales como Asunto , Ensayos Clínicos Controlados Aleatorios como Asunto , Factores de RiesgoRESUMEN
Manual 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. By quantifying kinetic and muscle activity data, it was possible to distinguish two kinds of movement patterns. Highly asymmetric postures and movements corresponded to distinct extremes in lower limb and spine muscle activity data. The use of collaborative robotics significantly reduced maximum force exertion in the caregiving process by up to 51%. Lateral flexion and torsion of the trunk were reduced by up to 54% and 87%, respectively, leading to a significant reduction in mean spine muscle activity of up to 55%. These findings indicate the feasibility of collaborative robot-assisted patient handling and emphasize the need for future individual intervention programs to prevent physical burden in care.
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Robótica , Humanos , Extremidad Inferior , Movimiento , Postura/fisiología , Rango del Movimiento Articular , Robótica/métodosRESUMEN
Comprehensive 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 0.73 to 0.89. This article reports insights into the design process and evaluates the usability of the USS interface. Our analysis showed high acceptance with qualitative and quantitative methods. From participant discussions, suggestions for improvement and functions for further development could be derived and discussed. The evaluated prototype offers a high potential for early detection of functional limitations in elderly people and should be tested with other target groups in other locations.
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Tamizaje Masivo , Equilibrio Postural , Anciano , Evaluación Geriátrica , Humanos , Modalidades de Fisioterapia , Estudios de Tiempo y MovimientoRESUMEN
BACKGROUND 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. METHODS: From April to June 2020, 4 facilities with 9 patients (6 women, 64-82 years old) participated in the study and were provided with technical equipment. Semistructured telephone interviews were conducted in eight patients to assess physical activity, functional ability and participation before and during the restrictions. Both patients and therapists were asked about their subjective experiences with VT. RESULTS: A total of 92 VT sessions took place. Performance of the exercises and comprehension of instructions were rated as good to very good. The level of acceptance was high. Of the patients four described a perceived reduction in their physical activities due to the public restrictions; however, in the questionnaires no substantial differences in participation and physical activity were found. DISCUSSION: The use of VT is feasible in older patients. Only minor technical support is needed. In pandemic situations or in other contexts VT appears to be a promising supplement or alternative to normal physiotherapy. Further studies are needed to identify suitable patient groups, to prove efficacy and to develop further content-related aspects of VT.
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COVID-19 , Pandemias , Anciano , Anciano de 80 o más Años , Control de Enfermedades Transmisibles , Estudios de Factibilidad , Femenino , Humanos , Modalidades de Fisioterapia , SARS-CoV-2RESUMEN
Since 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 84.7 years. The deep neural networks achieve an accuracy of about 95% for both tests for participants known by the network.
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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. To assess biomechanical data for the quantification of lower limb and spine muscle activity in manual patient handling, an experimental study was conducted. A quantitative basis for the analysis of caregiving processes and its risk factors is established by evaluating caregivers' posture, ground reaction force components, and muscle activities during ergonomic and non-ergonomic manual patient handling in a laboratory setting.
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Movimiento y Levantamiento de Pacientes , Fenómenos Biomecánicos , Humanos , Extremidad Inferior , Región Lumbosacra , PosturaRESUMEN
Comprehensive 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., physiotherapist) to assess physical performance. More often, these tests are only applied to a selected group of persons already functionally impaired and not to those who are at potential risk of functional decline. The article introduces the Unsupervised Screening System (USS) for unsupervised self-assessments by older adults and evaluates its validity for the TUG and SST. The USS included ambient and wearable movement sensors to measure the user's test performance. Sensor datasets of the USS's light barriers and Inertial Measurement Units (IMU) were analyzed for 91 users aged 73 to 89 years compared to conventional stopwatch measurement. A significant correlation coefficient of 0.89 for the TUG test and of 0.73 for the SST were confirmed among USS's light barriers. Correspondingly, for the inertial data-based measures, a high and significant correlation of 0.78 for the TUG test and of 0.87 for SST were also found. The USS was a validated and reliable tool to assess TUG and SST.
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Tamizaje Masivo , Movimiento , Rendimiento Físico Funcional , Anciano , Anciano de 80 o más Años , Humanos , Reproducibilidad de los Resultados , Sedestación , Posición de PieRESUMEN
An 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. We introduce an approach that automatically detects the execution of the chair rise test via an inertial sensor integrated into a belt. The system's suitability was evaluated via 20 subjects aged 72â»89 years (78.2 ± 4.6 years) and was measured by a stopwatch, the inertial measurement unit (IMU), a Kinect® camera and a force plate. A Multilayer Perceptrons-based classifier detects transitions in the IMU data with an F1-Score of around 94.8%. Valid executions of the 5CRT are detected based on the correct occurrence of sequential movements via a rule-based model. The results of the automatically calculated test durations are in good agreement with the stopwatch measurements (correlation coefficient r = 0.93 (p < 0.001)). The analysis of the duration of single test cycles indicates a beginning fatigue at the end of the test. The comparison of the movement pattern within one person shows similar movement patterns, which differ only slightly in form and duration, whereby different subjects indicate variations regarding their performance strategies.
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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. METHODS: We reviewed the records of 99 adult Henoch-Schönlein purpura patients who presented at the National Skin Centre, Singapore, between January 2008 and May 2015. RESULTS: Renal involvement was found in 56 (56.6%) patients, joint involvement in 21 (21.2%) and gastrointestinal involvement in 13 (13.1%). Age > 30 years was an independent predictor of renal involvement with an adjusted odds ratio of 2.97 (95% confidence interval, 1.08-8.16; P = 0.04). Risk factors for significant renal involvement necessitating nephrology referral were further evaluated: the odds were approximately 60% higher for every 10-year increase in age (95% confidence interval, 1.02-2.57; P = 0.04) and patients with cutaneous bullae and/or necrosis had an almost six times higher risk (95% confidence interval, 1.43-25.00; P = 0.01). LIMITATIONS: This study was limited by its retrospective design. We also lacked long-term data to examine how clinical and histopathological characteristics correlated with long-term disease outcomes. CONCLUSIONS: Adult Henoch-Schönlein purpura patients older than 30 years have a threefold increased risk of renal involvement. The risk of profound renal disease necessitating nephrology referral rose significantly with age and the presence of cutaneous bullae and/or necrosis.