Learning from post-COVID-19 condition for epidemic preparedness: a variable catalogue for future post-acute infection syndromes.

Scope: The emergence of post-COVID-19 condition (PCC) after SARS-CoV-2 infection underscores the critical need for preparedness in addressing future post-acute infection syndromes (PAIS), particularly those linked to epidemic outbreaks. The lack of standardized clinical and epidemiological data during the COVID-19 pandemic has significantly hindered timely diagnosis and effective treatment of PCC, highlighting the necessity of pre-emptively standardizing data collection in clinical studies to better define and manage future PAIS. In response, the Cohort Coordination Board, a consortium of European-funded COVID-19 research projects, has reviewed data from PCC studies conducted by its members.

Balance training in older adults enhances feedback control after perturbations.

Background: As we age, avoiding falls becomes increasingly challenging. While balance training can mitigate such challenges, the specific mechanisms through which balance control improves remains unclear.

Methods: We investigated the impact of balance training in older adults on feedback control after perturbations, focusing on kinematic balance recovery strategies and muscle synergy activation.

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Introduction: Autosomal dominant retinitis pigmentosa type 17 (adRP, type RP17) is caused by complex structural variants (SVs) affecting a locus on chromosome 17 (chr17q22). The SVs disrupt the 3D regulatory landscape by altering the topologically associating domain (TAD) structure of the locus, creating novel TAD structures (neo-TADs) and ectopic enhancer-gene contacts. Currently, screening for RP17-associated SVs is not included in routine diagnostics given the complexity of the variants and a lack of cost-effective detection methods.

Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.

Inherited retinal diseases (IRDs) encompass a variety of disease phenotypes and are known to display both clinical and genetic heterogeneity. A further complexity is that for several IRD-associated genes, pathogenic variants have been reported to cause either autosomal dominant (AD) or autosomal recessive (AR) diseases. The possibility of dual inheritance can create a challenge for variant interpretation as well as the genetic counselling of patients.

Are clinical tests and biomechanical measures of gait stability able to differentiate fallers from non-fallers in hereditary spastic paraplegia?

Introduction: Balance and gait impairments are common in people with hereditary spastic paraplegia (HSP) and often result in falls. Measures that identify patients at risk of falling are clinically relevant, but relatively unexplored in HSP. Here, we evaluated the potential of different balance and gait constructs to (1) identify differences between healthy controls and people with HSP and (2) discriminate between fallers and non-fallers with HSP.

A proteogenomic atlas of the human neural retina.

The human neural retina is a complex tissue with abundant alternative splicing and more than 10% of genetic variants linked to inherited retinal diseases (IRDs) alter splicing. Traditional short-read RNA-sequencing methods have been used for understanding retina-specific splicing but have limitations in detailing transcript isoforms. To address this, we generated a proteogenomic atlas that combines PacBio long-read RNA-sequencing data with mass spectrometry and whole genome sequencing data of three healthy human neural retina samples.

Exploring unsupervised feature extraction of IMU-based gait data in stroke rehabilitation using a variational autoencoder.

Background: Variational AutoEncoders (VAE) might be utilized to extract relevant information from an IMU-based gait measurement by reducing the sensor data to a low-dimensional representation. The present study explored whether VAEs can reduce IMU-based gait data of people after stroke into a few latent features with minimal reconstruction error. Additionally, we evaluated the psychometric properties of the latent features in comparison to gait speed, by assessing 1) their reliability; 2) the difference in scores between people after stroke and healthy controls; and 3) their responsiveness during rehabilitation.

The effect of head orientation on vestibular signal-based modulation of paraspinal muscle activity during walking.

Background: Vestibulospinal reflexes play a role in maintaining the upright posture of the trunk. Head orientation has been shown to modify the vestibulospinal reflexes during standing. This study investigated how vestibular signals affect paraspinal muscle activity during walking, and whether head orientation changes these effects.

The Short Physical Performance Battery does not correlate with daily life gait quality and quantity in community-dwelling older adults with an increased fall risk.

Background: Both the Short Physical Performance Battery (SPPB) and daily life gait quality and quantity obtained from wearable sensors are used to measure functional status in older adults. It is generally assumed that they are interrelated and exchangeable, but this has not yet been established. Interchangeability of these measures would pave the way for remote monitoring of functional status.

Machine learning approaches to predict whether MEPs can be elicited via TMS.

Background: Transcranial magnetic stimulation (TMS) is a valuable technique for assessing the function of the motor cortex and cortico-muscular pathways. TMS activates the motoneurons in the cortex, which after transmission along cortico-muscular pathways can be measured as motor-evoked potentials (MEPs). The position and orientation of the TMS coil and the intensity used to deliver a TMS pulse are considered central TMS setup parameters influencing the presence/absence of MEPs.

Assessment of stabilizing feedback control of walking: A tutorial.

Walking without falling requires stabilization of the trajectory of the body center of mass relative to the base of support. Model studies suggest that this requires active, feedback control, i.e.

External Validation and Further Exploration of Fall Prediction Models Based on Questionnaires and Daily-Life Trunk Accelerometry.

Ambulatory measurements of trunk accelerations can provide valuable insight into the amount and quality of daily life activities. Such information has been used to create models to identify individuals at high risk of falls. However, external validation of such prediction models is lacking, yet crucial for clinical implementation.

Force-field perturbations and muscle vibration strengthen stability-related foot placement responses during steady-state gait in healthy adults.

Mediolateral gait stability can be maintained by coordinating our foot placement with respect to the center-of-mass (CoM) kinematic state. Neurological impairments can reduce the degree of foot placement control. For individuals with such impairments, interventions that could improve foot placement control could thus contribute to improved gait stability.

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.

Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the routine application of next-generation sequencing (NGS) approaches such as extensive gene panels or whole exome analyses. Whole-genome sequencing (WGS) has been reported to improve this diagnostic rate by revealing elusive variants, such as structural variants (SVs) and deep intronic variants (DIVs).

Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.

Inherited retinal dystrophies (IRDs) are characterized by photoreceptor dysfunction or degeneration. Clinical and phenotypic overlap between IRDs makes the genetic diagnosis very challenging and comprehensive genomic approaches for accurate diagnosis are frequently required. While there are previous studies on IRDs in Pakistan, causative genes and variants are still unknown for a significant portion of patients.

The significance of frontal plane static alignment in anticipating dynamic knee moment among transtibial prosthesis users: A cross-sectional study.

Background: In the process of transtibial prosthetic fitting, alignment is the process of positioning the prosthetic foot relative to the residual limb. Changes in frontal plane alignment can impact knee moments during walking, which can either cause or, when aligned properly, prevent injuries. However, clinical evaluation of dynamic knee moments is challenging, limiting prosthetists' insights into dynamic joint loading.

Differences in the organization of the primary motor cortex in people with and without low back pain and associations with motor control and sensory tests.

Differences in organization of the primary motor cortex and altered trunk motor control (sensing, processing and motor output) have been reported in people with low back pain (LBP). Little is known to what extent these differences are related. We investigated differences in 1) organization of the primary motor cortex and 2) motor and sensory tests between people with and without LBP, and 3) investigated associations between the organization of the primary motor cortex and motor and sensory tests.

Beyond gait speed: exploring the added value of Inertial Measurement Unit-based measurements of gait in the estimation of the walking ability in daily life.

Background: Gait speed is often used to estimate the walking ability in daily life in people after stroke. While measuring gait with inertial measurement units (IMUs) during clinical assessment yields additional information, it remains unclear if this information can improve the estimation of the walking ability in daily life beyond gait speed.

Objective: We evaluated the additive value of IMU-based gait features over a simple gait-speed measurement in the estimation of walking ability in people after stroke.

Lower prevalence of post-Covid-19 Condition following Omicron SARS-CoV-2 infection.

Objectives: Different SARS-CoV-2 variants can differentially affect the prevalence of Post Covid-19 Condition (PCC). This prospective study assesses prevalence and severity of symptoms three months after an Omicron infection, compared to Delta, test-negative and population controls. This study also assesses symptomology after reinfection and breakthrough infections.

The condition for dynamic stability in humans walking with feedback control.

The walking human body is mechanically unstable. Loss of stability and falling is more likely in certain groups of people, such as older adults or people with neuromotor impairments, as well as in certain situations, such as when experiencing conflicting or distracting sensory inputs. Stability during walking is often characterized biomechanically, by measures based on body dynamics and the base of support.

Alterations in stride-to-stride fluctuations in patients with chronic obstructive pulmonary disease during a self-paced treadmill 6-minute walk test.

Evaluating variability and stability using measures for nonlinear dynamics may provide additional insight into the structure of the locomotor system, reflecting the neuromuscular system's organization of gait. This is in particular of interest when this system is affected by a respiratory disease and it's extrapulmonary manifestations. This study assessed stride-to-stride fluctuations and gait stability in patients with chronic obstructive pulmonary disease (COPD) during a self-paced, treadmill 6-minute walk test (6MWT) and its association with clinical outcomes.

Vertebral level specific modulation of paraspinal muscle activity based on vestibular signals during walking.

Evoking muscle responses by electrical vestibular stimulation (EVS) may help to understand the contribution of the vestibular system to postural control. Although paraspinal muscles play a role in postural stability, the vestibulo-muscular coupling of these muscles during walking has rarely been studied. This study aimed to investigate how vestibular signals affect paraspinal muscle activity at different vertebral levels during walking with preferred and narrow step width.

[Bell's palsy: a broad differential diagnosis].

Peripheral facial palsy is a common clinical symptom and is most often caused by Bell's palsy. The pathogenesis is largely unknown, but inflammation of the facial nerve, possibly after a viral infection, may play a role. Bell's palsy has a monophasic course with usually - but not always - a good recovery.