Mobile Videoconferencing for Occupational Therapists’ Assessments of Patients’ Home Environments Prior to Hospital Discharge: Mixed Methods Feasibility and Comparative Study

Background: Occupational therapists who work in hospitals need to assess patients’ home environment in preparation for hospital discharge in order to provide recommendations (eg, technical aids) to support their independence and safety. Home visits increase performance in everyday activities and decrease the risk of falls; however, in some countries, home visits are rarely made prior to hospital discharge due to the cost and time involved. In most cases, occupational therapists rely on an interview with the patient or a caregiver to assess the home. The use of videoconferencing to assess patients’ home environments could be an innovative solution to allow better and more appropriate recommendations. Objective: The aim of this study was (1) to explore the added value of using mobile videoconferencing compared with standard procedure only and (2) to document the clinical feasibility of using mobile videoconferencing to assess patients’ home environments. Methods: Occupational therapists assessed home environments using, first, the standard procedure (interview), and then, videoconferencing (with the help of a family caregiver located in patients’ homes, using an electronic tablet). We used a concurrent mixed methods design. The occupational therapist's responsiveness to telehealth, time spent on assessment, patient’s occupational performance and satisfaction, and major events influencing the variables were collected as quantitative data. The perceptions of occupational therapists and family caregivers regarding the added value of using this method and the nature of changes made to recommendations as a result of the videoconference (if any) were collected as qualitative data, using questionnaires and semistructured interviews. Results: Eight triads (6 occupational therapists, 8 patients, and 8 caregivers) participated. The use of mobile videoconferencing generally led occupational therapists to modify the initial intervention plan (produced after the standard interview). Occupational therapists and caregivers perceived benefits in using mobile videoconferencing (eg, the ability to provide real-time comments or feedback), and they also perceived disadvantages (eg, videoconferencing requires additional time and greater availability of caregivers). Some occupational therapists believed that mobile videoconferencing added value to assessments, while others did not. Conclusions: The use of mobile videoconferencing in the context of hospital discharge planning has raised questions of clinical feasibility. Although mobile videoconferencing provides multiple benefits to hospital discharge, including more appropriate occupational therapist recommendations, time constraints made it more difficult to perceive the added value. However, with smartphone use, interdisciplinary team involvement, and patient participation in the videoconference visit, mobile videoconferencing can become an asset to hospital discharge planning

Effect of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker initiation on organ support-free days in patients hospitalized with COVID-19

IMPORTANCE Overactivation of the renin-angiotensin system (RAS) may contribute to poor clinical outcomes in patients with COVID-19. Objective To determine whether angiotensin-converting enzyme (ACE) inhibitor or angiotensin receptor blocker (ARB) initiation improves outcomes in patients hospitalized for COVID-19. DESIGN, SETTING, AND PARTICIPANTS In an ongoing, adaptive platform randomized clinical trial, 721 critically ill and 58 non–critically ill hospitalized adults were randomized to receive an RAS inhibitor or control between March 16, 2021, and February 25, 2022, at 69 sites in 7 countries (final follow-up on June 1, 2022). INTERVENTIONS Patients were randomized to receive open-label initiation of an ACE inhibitor (n = 257), ARB (n = 248), ARB in combination with DMX-200 (a chemokine receptor-2 inhibitor; n = 10), or no RAS inhibitor (control; n = 264) for up to 10 days. MAIN OUTCOMES AND MEASURES The primary outcome was organ support–free days, a composite of hospital survival and days alive without cardiovascular or respiratory organ support through 21 days. The primary analysis was a bayesian cumulative logistic model. Odds ratios (ORs) greater than 1 represent improved outcomes. RESULTS On February 25, 2022, enrollment was discontinued due to safety concerns. Among 679 critically ill patients with available primary outcome data, the median age was 56 years and 239 participants (35.2%) were women. Median (IQR) organ support–free days among critically ill patients was 10 (–1 to 16) in the ACE inhibitor group (n = 231), 8 (–1 to 17) in the ARB group (n = 217), and 12 (0 to 17) in the control group (n = 231) (median adjusted odds ratios of 0.77 [95% bayesian credible interval, 0.58-1.06] for improvement for ACE inhibitor and 0.76 [95% credible interval, 0.56-1.05] for ARB compared with control). The posterior probabilities that ACE inhibitors and ARBs worsened organ support–free days compared with control were 94.9% and 95.4%, respectively. Hospital survival occurred in 166 of 231 critically ill participants (71.9%) in the ACE inhibitor group, 152 of 217 (70.0%) in the ARB group, and 182 of 231 (78.8%) in the control group (posterior probabilities that ACE inhibitor and ARB worsened hospital survival compared with control were 95.3% and 98.1%, respectively). CONCLUSIONS AND RELEVANCE In this trial, among critically ill adults with COVID-19, initiation of an ACE inhibitor or ARB did not improve, and likely worsened, clinical outcomes. TRIAL REGISTRATION ClinicalTrials.gov Identifier: NCT0273570

Étude des mécanismes moléculaires responsables de maladies dues à des expansions de répétitions situées dans des régions du génome dites « non-codantes »

Over 50 human genetic diseases are caused by expansions of tri-, tetra-, penta- or hexanucleotide. My PHD work focused on two of these diseases, Neuronal Intranuclear Inclusion Disease (NIID) and Amyotrophic Lateral Sclerosis (ALS). These two neurodegenerative diseases are caused by expansions of CGG or GGGGCC repeats, respectively. Interestingly, we found that despite being embedded in genetic regions initially described as “non-coding”, these repeats are nonetheless translated into toxic proteins. Expression of these proteins in cell or animal models recapitulates the histophathological features and neuronal cell death characteristic of these diseases (Boivin et al., EMBO J. 2020; Boivin et al., Neuron 2021). Overall, these results support the existence of a novel pathogenic mechanism in human genetic diseases where expanded repeats located in “non-coding” genetic regions are nevertheless translated into toxic proteins.Plus de 50 maladies génétiques sont dues à des expansions de répétitions de nucléotides. Ma thèse a porté sur deux de ces pathologies : la maladie à inclusions intranucléaires neuronales (NIID) et la sclérose latérale amyotrophique (SLA). Ces deux maladies neurodégénératives sont dues respectivement à des expansions de répétitions CGG (NIID) ou GGGGCC (SLA). Nous avons montré que bien que situées dans des régions décrites initialement comme non codante, ces répétitions CGG et GGGGCC sont traduites en protéines toxiques. L’expression de ces protéines en modèle cellulaire ou murin reproduisent les caractéristiques histopathologiques et la mort neuronale typique de ces maladies (Boivin et al., EMBO J. 2020 ; Boivin et al., Neuron 2021). Ce travail souligne ainsi l’existence d’un nouveau mécanisme pathologique où des répétitions de nucléotides situées dans des régions dites non codantes sont néanmoins exprimées en protéines toxiques

The molecular mechanisms implicated in repeat expansions localized in the “non-coding” regions of the genome in microsatellite expansion diseases

Plus de 50 maladies génétiques sont dues à des expansions de répétitions de nucléotides. Ma thèse a porté sur deux de ces pathologies : la maladie à inclusions intranucléaires neuronales (NIID) et la sclérose latérale amyotrophique (SLA). Ces deux maladies neurodégénératives sont dues respectivement à des expansions de répétitions CGG (NIID) ou GGGGCC (SLA). Nous avons montré que bien que situées dans des régions décrites initialement comme non codante, ces répétitions CGG et GGGGCC sont traduites en protéines toxiques. L’expression de ces protéines en modèle cellulaire ou murin reproduisent les caractéristiques histopathologiques et la mort neuronale typique de ces maladies (Boivin et al., EMBO J. 2020 ; Boivin et al., Neuron 2021). Ce travail souligne ainsi l’existence d’un nouveau mécanisme pathologique où des répétitions de nucléotides situées dans des régions dites non codantes sont néanmoins exprimées en protéines toxiques.Over 50 human genetic diseases are caused by expansions of tri-, tetra-, penta- or hexanucleotide. My PHD work focused on two of these diseases, Neuronal Intranuclear Inclusion Disease (NIID) and Amyotrophic Lateral Sclerosis (ALS). These two neurodegenerative diseases are caused by expansions of CGG or GGGGCC repeats, respectively. Interestingly, we found that despite being embedded in genetic regions initially described as “non-coding”, these repeats are nonetheless translated into toxic proteins. Expression of these proteins in cell or animal models recapitulates the histophathological features and neuronal cell death characteristic of these diseases (Boivin et al., EMBO J. 2020; Boivin et al., Neuron 2021). Overall, these results support the existence of a novel pathogenic mechanism in human genetic diseases where expanded repeats located in “non-coding” genetic regions are nevertheless translated into toxic proteins

The molecular mechanisms implicated in repeat expansions localized in the “non-coding” regions of the genome in microsatellite expansion diseases

Plus de 50 maladies génétiques sont dues à des expansions de répétitions de nucléotides. Ma thèse a porté sur deux de ces pathologies : la maladie à inclusions intranucléaires neuronales (NIID) et la sclérose latérale amyotrophique (SLA). Ces deux maladies neurodégénératives sont dues respectivement à des expansions de répétitions CGG (NIID) ou GGGGCC (SLA). Nous avons montré que bien que situées dans des régions décrites initialement comme non codante, ces répétitions CGG et GGGGCC sont traduites en protéines toxiques. L’expression de ces protéines en modèle cellulaire ou murin reproduisent les caractéristiques histopathologiques et la mort neuronale typique de ces maladies (Boivin et al., EMBO J. 2020 ; Boivin et al., Neuron 2021). Ce travail souligne ainsi l’existence d’un nouveau mécanisme pathologique où des répétitions de nucléotides situées dans des régions dites non codantes sont néanmoins exprimées en protéines toxiques.Over 50 human genetic diseases are caused by expansions of tri-, tetra-, penta- or hexanucleotide. My PHD work focused on two of these diseases, Neuronal Intranuclear Inclusion Disease (NIID) and Amyotrophic Lateral Sclerosis (ALS). These two neurodegenerative diseases are caused by expansions of CGG or GGGGCC repeats, respectively. Interestingly, we found that despite being embedded in genetic regions initially described as “non-coding”, these repeats are nonetheless translated into toxic proteins. Expression of these proteins in cell or animal models recapitulates the histophathological features and neuronal cell death characteristic of these diseases (Boivin et al., EMBO J. 2020; Boivin et al., Neuron 2021). Overall, these results support the existence of a novel pathogenic mechanism in human genetic diseases where expanded repeats located in “non-coding” genetic regions are nevertheless translated into toxic proteins

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

International audienceFragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. The main clinical and neuropathological features of FXTAS are progressive intention tremor and gait ataxia associated with brain atrophy, neuronal cell loss and presence of ubiquitin-positive intranuclear inclusions in both neurons and astrocytes. At the molecular level, FXTAS is characterized by increased expression of FMR1 sense and antisense RNA containing expanded CGG or GGC repeats, respectively. Here, we discuss the putative molecular mechanisms underlying FXTAS and notably recent reports that expanded CGG and GGC repeats may be pathogenic through RAN translation into toxic proteins

Les myopathies oculo-pharyngo-distales : des nouvelles maladies à expansions de répétitions CGG

La myopathie oculo-pharyngo-distale (OPDM) est une maladie génétique rare de l’adulte affectant les muscles squelettiques du visage, du pharynx et des extrémités des membres. Récemment, des variants dans quatre gènes distincts ont été identifiés comme responsables de cette pathologie. Bien que localisées dans différents gènes, le mécanisme mutationnel est identique, à savoir une expansion de 50 à 200-300 répétitions de triplets de nucléotides CGG. Dans cet article, nous décrivons les aspects cliniques, histopathologiques et génétiques de l’OPDM, ainsi que les mécanismes moléculaires pouvant expliquer la toxicité de ces expansions de répétitions trinucléotidiques

Greening and browning of urban lawns in Geneva (Switzerland) as influenced by soil properties

Urban green spaces with healthy vegetation play a key role in improving the quality of life in cities. However, urban soils, the basis of the urban greenery, are under strong anthropogenic influence and can considerably differ from natural soils. In this study, we observed short-term greening and browning of lawns during one vegetation period in urban parks of Geneva (Switzerland). We related the temporal trajectory of seasonal Normalized Difference Vegetation Index (NDVI) (8 days median) as a proxy of vegetation condition at different test sites to the physical soil properties (soil depth, coarse material, bulk density, conditioned air and water content) and Soil Organic Carbon (SOC). Strong drops of NDVI during dry periods in summer were related to shallow soil depths (10%) as well as lower SOC. Bulk density of the fine earth and the soil structure quality (expressed by air and water content of soil cores conditioned at a soil water potential of −100 hPa) had a significant influence on grass growth in spring but not in summer. Dense soils with conditioned air content closer to the trigger value of degraded soil structure resulted in lower NDVI values in spring. Our approach of using Earth Observation (EO) data for observing short-term greening and browning patterns, in this case the rise and decline of NDVI values, revealed that the role of the soil properties changed with the season. This approach may contribute to digital soil mapping and the assessment of soil ecosystem services in urban contexts. Urban planners are advised to save natural soils from over-building and keep them for green spaces. If soil has to be restored to create new green spaces, it should be deep and should not contain much coarse material, even for grassy vegetation

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

International audienc