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Search Results (692)

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Keywords = disability allowance

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14 pages, 730 KB  
Article
Surgical Outcomes of Craniocervical Junction Fractures in Elderly Patients: A Retrospective Single-Center Series
by Nicola Montemurro, Stefano Carnesecchi, Riccardo Morganti, Antonella De Carlo and Ardico Cocciaro
J. Pers. Med. 2025, 15(10), 485; https://doi.org/10.3390/jpm15100485 - 10 Oct 2025
Abstract
Background: Fractures of the first and second cervical vertebrae are common in both young and elderly patients. Surgical management of C1–C2 fractures in elderly patients is controversial. The aim of this study is to report the rate of fusion in elderly patients who [...] Read more.
Background: Fractures of the first and second cervical vertebrae are common in both young and elderly patients. Surgical management of C1–C2 fractures in elderly patients is controversial. The aim of this study is to report the rate of fusion in elderly patients who underwent surgery for C1 or C2 fractures. Methods: A retrospective review of all patients over the age of 65 years old who underwent surgical treatment for C1 or C2 fracture was reported. Visual analog scale (VAS) and neck disability index (NDI) were used to assess patients’ clinical outcome at 1 year follow-up. Cervical spine computer tomography (CT) scans were performed in all cases before surgery and at 1 year follow-up to evaluate the long-term postoperative rate of fusion, according to Lenke fusion grade. Results: From 2019 to 2023, 105 patients with cervical craniocervical junction (CCJ) fracture underwent surgical treatment in our Pisana University Hospital. Among all these, 74 patients (70.5%) were over 65 years old. The mean age of the study population was 76.9 years old (12.2% aged 65–70, 51.4% aged 70–79, and 36.5% over 80). According to the AO Spine Upper Cervical Injury Classification System, 6 (8.1%) patients presented a type II fracture and 68 (91.9%) patients presented a type III fracture. At admission, neurological examination resulted in American Spinal Injury Association (ASIA) E in 97.3% of cases. Over 60% of all patients underwent C1–C2 posterior fixation. Postoperative complications occurred in 12.25% of patients. According to the criteria described by Lenke, a good rate of fusion (A-B grade) was obtained in 71.6% of patients. Conclusions: In elderly patients with CCJ fractures, precision medicine can help identify those at higher risk for complications and guide personalized treatment strategies. Surgical treatment of CCJ fractures in elderly patients, although not always associated with bone fusion, can be performed with an acceptable incidence of mortality and morbidity, allowing rapid mobilization and return to pre-trauma levels of independence. Full article
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18 pages, 270 KB  
Article
Understanding the Support Needs of Family Caregivers Living with Severe Developmental Disability: An Interpretive Phenomenological Analysis
by Anna McStravick and Rosanna Cousins
Healthcare 2025, 13(20), 2550; https://doi.org/10.3390/healthcare13202550 - 10 Oct 2025
Abstract
Background/Objectives: Living with a disabled family member has extensive implications for the whole family involved in their care, and there is dependency on healthcare support for maintaining quality of life. This qualitative study, conducted in Northern Ireland, investigated the support needs of different [...] Read more.
Background/Objectives: Living with a disabled family member has extensive implications for the whole family involved in their care, and there is dependency on healthcare support for maintaining quality of life. This qualitative study, conducted in Northern Ireland, investigated the support needs of different family members living with a severely impaired individual across the lifespan. A key objective was to identify support needs for intervention. Methods: In-depth semi-structured interviews were conducted to obtain data from eight mothers, fathers, sisters and brothers of a profoundly disabled child or sibling. Data was analyzed using Interpretive Phenomenological Analysis, allowing for the application of double hermeneutic in which the researchers derived meaning from the lived experiences of participants. Results: The analysis yielded five themes in total. Three themes were related to gaps in healthcare systems: Support Needs in Childhood, Support in Transition into Adult Services, and Worry for the Future; and two themes were linked with support needs: Associative Disability in Family Members; and Stigma. All family members had caregiving roles, and these had similarities and differences according to the relationship with the care-receiver. Participants recognized their families were survivors, however maintained a family tragedy rather than positive change outlook. Conclusions: Recommendations derived from the findings to alleviate the stressors of the situation for family members include increasing community support and age-related respite facilities. Additionally, improving and enhancing education of disabilities in schools, and immersing and further integrating individuals with disability into society, will alleviate the alienation, isolation and loneliness experienced by family members. Full article
(This article belongs to the Special Issue Healthcare Practice in Community)
12 pages, 246 KB  
Article
Applying the WHO ICF Framework to Fetal Alcohol Spectrum Disorder (FASD): A Forensic and Clinical Perspective on Disability Assessment and Patient Support
by Davide Ferorelli, Francesco Calò, Gianmarco Sirago, Dania Comparcini, Filippo Gibelli, Francesco Sessa, Marco Carotenuto, Biagio Solarino and Monica Salerno
Healthcare 2025, 13(19), 2546; https://doi.org/10.3390/healthcare13192546 - 9 Oct 2025
Abstract
Background/Objectives: This article aims to investigate the multifaceted effects of alcohol on neurophysiopathological development from gestational stages through adult life and the consequent dynamic-relational challenges in individuals with Fetal Alcohol Spectrum Disorder (FASD). FASD, resulting from prenatal alcohol exposure (PAE), is characterized [...] Read more.
Background/Objectives: This article aims to investigate the multifaceted effects of alcohol on neurophysiopathological development from gestational stages through adult life and the consequent dynamic-relational challenges in individuals with Fetal Alcohol Spectrum Disorder (FASD). FASD, resulting from prenatal alcohol exposure (PAE), is characterized by a range of neurological, cognitive, behavioral, and sometimes physical impairments. This article explores how alcohol and its toxic metabolites cross the placenta, inducing direct cellular toxicity and epigenetic alterations that disrupt critical neurodevelopmental processes such as neurogenesis and brain circuit formation. Clinically, individuals with FASD exhibit diverse deficits in executive functioning, learning, memory, social skills, and sensory-motor abilities, leading to significant lifelong disabilities. A central focus is the application of the World Health Organization’s International Classification of Functioning, Disability and Health (ICF) criteria to comprehensively frame these disabilities. The ICF’s biopsychosocial model allows for a multidimensional assessment of impairments in body functions and structures, limitations in activities, and restrictions in participation, while also considering the crucial role of environmental factors. Methods: PubMed and Semantic Scholar databases were searched for relevant papers published in English. Results: This article highlights the utility of the ICF in creating individualized functioning profiles to guide interventions and support services, addressing the limitations of traditional assessment methods. Conclusions: While the ICF framework offers a robust approach for understanding and managing FASD, further research is essential to develop and validate FASD-specific ICF-based assessment tools to enhance support and social participation for affected individuals. Full article
19 pages, 629 KB  
Article
Perceptions of Diversity in School Leadership Promotions: An Initial Exploratory Study in the Republic of Ireland
by Robert Hannan, Niamh Lafferty and Patricia Mannix-McNamara
Societies 2025, 15(10), 277; https://doi.org/10.3390/soc15100277 - 1 Oct 2025
Viewed by 260
Abstract
This initial exploratory study examined the perceptions of teachers and school leaders in the Republic of Ireland regarding diversity in promotions to school principalship, framed by Equity Theory, Organisational Justice Theory, and Legitimacy Theory. A mixed-methods approach was utilised within this study. Data [...] Read more.
This initial exploratory study examined the perceptions of teachers and school leaders in the Republic of Ireland regarding diversity in promotions to school principalship, framed by Equity Theory, Organisational Justice Theory, and Legitimacy Theory. A mixed-methods approach was utilised within this study. Data was collected from 123 participants via an online survey comprising Likert-type statements and open-ended questions. This data was analysed using descriptive statistics and quantitative analysis for the Likert-type statements and thematic analysis was used to examine the qualitative responses, allowing for the identification of recurring patterns and themes to complement the quantitative findings. Findings indicated disparities between perceived and desired prioritisation of diversity, alongside varied perceptions of its impact on school performance and leadership. Disability, social class, and religious diversity were perceived as the least prioritised in promotion practices, while gender and cultural diversity received greater support and were more frequently linked to positive leadership outcomes. Participants reported mixed perceptions across diversity dimensions, with gender, age, and cultural diversity associated with the most positive impacts. Concerns about tokenism and the perceived undermining of merit-based promotion were widespread, reflecting the importance of fairness, transparency, and alignment with stakeholder expectations. The study underscored the need for promotion processes that are both equitable and credible, and for organisational cultures that enable diverse leaders to thrive. These findings provided a foundation for further research and policy development to foster inclusive and representative school leadership in Ireland. Full article
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26 pages, 1635 KB  
Article
Evaluating Player Stress and Motivation Through Biofeedback-Controlled Dynamic Difficulty Adjustment
by Atalay Oner and Enver Kucukkulahli
Electronics 2025, 14(19), 3870; https://doi.org/10.3390/electronics14193870 - 29 Sep 2025
Viewed by 317
Abstract
This study researches the effects of a biofeedback-based Dynamic Difficulty Adjustment (DDA) system on player stress management in a survival-horror video game. For this purpose, a game titled Code: Terror was developed, in which players’ psychophysiological data—such as heart rate, stress level, and [...] Read more.
This study researches the effects of a biofeedback-based Dynamic Difficulty Adjustment (DDA) system on player stress management in a survival-horror video game. For this purpose, a game titled Code: Terror was developed, in which players’ psychophysiological data—such as heart rate, stress level, and voice level—were collected in real time through a smartwatch. Based on these data, game parameters were dynamically adjusted. The adaptation process was guided by the “Relax-to-win” model, which aims to make the game easier as players remain calm, using their level of relaxation as a baseline. A total of 40 participants were recruited and divided into two reciprocal groups: one group experienced the game solely with the DDA system activated, while the other played first with the DDA system disabled and then with it enabled. Player experience was evaluated using the Intrinsic Motivation Inventory (IMI) and the Challenge Originating from Recent Gameplay Interaction Scale (CORGIS). Results showed that the dynamic biofeedback system significantly enhanced intrinsic motivation and perceived challenge, while also reducing physiological arousal, indicating its effectiveness in promoting emotional regulation—the inclusion of both gameplay conditions for participants allowed for the collection of more consistent and meaningful data. The results suggest that biofeedback-driven DDA systems have the potential to enrich player experience both emotionally and motivationally. Furthermore, the findings highlight the potential of such adaptive biofeedback mechanisms to serve as intelligent medical decision support tools for stress management, mental health monitoring, and personalized intervention strategies. Full article
(This article belongs to the Special Issue Advances in Human–Computer Intelligent Interaction)
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18 pages, 285 KB  
Review
A Review of Disability Protection in Nepal Through Social Allowance: Policies, Practices, and Paucity
by Sanjeev Dahal, Sipho Sibanda and Daniel Doh
Soc. Sci. 2025, 14(9), 548; https://doi.org/10.3390/socsci14090548 - 12 Sep 2025
Viewed by 486
Abstract
This paper endeavors to paint a comprehensive picture of the social security provision of allowances for persons with disabilities in Nepal. It uses a rapid review to understand the policies and practices related to the social security allowances. The key findings are that [...] Read more.
This paper endeavors to paint a comprehensive picture of the social security provision of allowances for persons with disabilities in Nepal. It uses a rapid review to understand the policies and practices related to the social security allowances. The key findings are that the Government of Nepal has several policies focused on upholding the rights of the persons with disabilities; it has prioritized disability allowance as one of the five government-run social security allowances, but the benefits of these policies are yet to reach all persons with disabilities. It was found that a significant proportion of persons with disabilities are yet to receive disability identity cards that link them with social security benefits, and a significant gap was also noted between those who had the identity cards and those who received the disability allowances. Furthermore, the paper underscores suggestions from the extant literature on minimizing this gap. Full article
10 pages, 2275 KB  
Article
The Impact of the COVID-19 Pandemic on Proximal Humerus Fractures: Clinical Implications and Management Strategies
by Gianfilippo Caggiari, Alessandro Zanzi, Giuseppe Melis, Fabrizio Quattrini and Corrado Ciatti
Surg. Tech. Dev. 2025, 14(3), 30; https://doi.org/10.3390/std14030030 - 4 Sep 2025
Viewed by 458
Abstract
Background: Proximal humerus fractures (PHFs) constitute a significant orthopedic challenge, particularly among the elderly, due to osteoporosis and comorbidities. While surgical intervention is often considered for complex fractures, non-surgical treatment (NST) has gained attention, especially during the COVID-19 pandemic, when surgical resources [...] Read more.
Background: Proximal humerus fractures (PHFs) constitute a significant orthopedic challenge, particularly among the elderly, due to osteoporosis and comorbidities. While surgical intervention is often considered for complex fractures, non-surgical treatment (NST) has gained attention, especially during the COVID-19 pandemic, when surgical resources were limited. This study evaluates the functional outcomes of patients over 65 years old who underwent NST for PHFs during the pandemic. Methods: A retrospective analysis was conducted on patients presenting with 3- or 4-part PHFs at the Hospital Marino di Alghero (Italy) between 9 March 2020 and 18 May 2020. Inclusion criteria included age over 65, conservative management, and a minimum 30-month follow-up. Seven patients were evaluated through radiographic imaging and clinical assessments, including the Constant Shoulder Score (CSS), Oxford Shoulder Score (OSS), and Disabilities of the Arm, Shoulder, and Hand Score (DASH). Functional recovery was analyzed over a 48-month period. Results: The average CSS was 69.4 (SD: 22.3), OSS was 34 (SD: 14.6), and DASH was 27.9 (SD: 30.3), indicating moderate functional recovery. One patient required surgical fixation due to excessive displacement. Tuberosity union was observed in 85.7% of cases, and complications were minimal. NST allowed patients to recover shoulder function while avoiding surgical risks, particularly during the pandemic. Conclusions: NST proved to be a viable treatment for elderly patients with PHFs, yielding satisfactory functional outcomes with minimal complications. The pandemic highlighted the importance of conservative approaches in orthopedic management, emphasizing the need for individualized treatment decisions based on patient comorbidities and fracture characteristics. Full article
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14 pages, 1158 KB  
Article
Neuroinflammatory Signature of Post-Traumatic Confusional State: The Role of Cytokines in Moderate-to-Severe Traumatic Brain Injury
by Federica Piancone, Francesca La Rosa, Ambra Hernis, Ivana Marventano, Pietro Arcuri, Marco Rabuffetti, Jorge Navarro, Marina Saresella, Mario Clerici and Angela Comanducci
Int. J. Mol. Sci. 2025, 26(17), 8593; https://doi.org/10.3390/ijms26178593 - 4 Sep 2025
Viewed by 644
Abstract
Traumatic brain injury (TBI), a leading cause of mortality and disability, recognizes a primary, immediate injury due to external forces, and a secondary phase that includes inflammation that can lead to complications such as the post-traumatic confusional state (PTCS), potentially impacting long-term neurological [...] Read more.
Traumatic brain injury (TBI), a leading cause of mortality and disability, recognizes a primary, immediate injury due to external forces, and a secondary phase that includes inflammation that can lead to complications such as the post-traumatic confusional state (PTCS), potentially impacting long-term neurological recovery. An earlier identification of these complications, including PTCS, upon admission to intensive rehabilitation units (IRU) could possibly allow the design of personalized rehabilitation protocols in the immediate post-acute phase of moderate-to-severe TBI. The present study aims to identify potential biomarkers to distinguish between TBI patients with and without PTCS. We analyzed cellular and molecular mechanisms involved in neuroinflammation (IL-6, IL-1β, IL-10 cytokines), neuroendocrine function (norepinephrine, NE, epinephrine, E, dopamine), and neurogenesis (glial cell line-derived neurotrophic factor, GDNF, insuline-like growth factor 1, IGF-1, nerve growth factor, NGF, brain-derived growth factor, BDNF) using enzyme-linked immunosorbent assay (ELISA), comparing results between 29 TBI patients (17 with PTCS and 12 non-confused) and 34 healthy controls (HC), and correlating results with an actigraphy-derived sleep efficiency parameter. In TBI patients compared to HC, serum concentration of (1) pro-inflammatory IL-1β cytokine was significantly increased while that of anti-inflammatory IL-10 cytokine was significantly decreased; (2) NE, E and DA were significantly increased; (3) GDNF, NGF and IGF-1 were significantly increased while that of BDNF was significantly decreased. Importantly, IL-10 serum concentration was significantly lower in PTCS than in non-confused patients, correlating positively with an improved actigraphy-derived sleep efficiency parameter. An anti-inflammatory environment may be associated with better prognosis after TBI. Full article
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15 pages, 960 KB  
Article
A Single-Button Mobility Platform for Cause–Effect Learning in Children with Cerebral Palsy: A Pilot Study
by Alberto J. Molina-Cantero, Félix Biscarri-Triviño, Alejandro Gallardo-Soto, Juan M. Jaramillo-Pareja, Silvia Molina-Criado, Azahara Díaz-Rodríguez and Luisa Sierra-Martín
Children 2025, 12(8), 1077; https://doi.org/10.3390/children12081077 - 16 Aug 2025
Viewed by 542
Abstract
Background: Mobility plays a fundamental role in causal reasoning (causal inference or cause–effect learning), which is essential for brain development at early ages. Children naturally develop causal reasoning through interaction with their environment. Therefore, children with severe motor disabilities (GMFCS levels IV–V), who [...] Read more.
Background: Mobility plays a fundamental role in causal reasoning (causal inference or cause–effect learning), which is essential for brain development at early ages. Children naturally develop causal reasoning through interaction with their environment. Therefore, children with severe motor disabilities (GMFCS levels IV–V), who face limited opportunities for interaction, often show delays in causal reasoning. Objective: This study investigates how a wheelchair-mounted, semi-autonomous mobility platform operated via a simple switch may enhance causal learning in children with severe disabilities, compared with traditional therapies. However, due to the scarcity of participants who meet the inclusion criteria and the need for long-term evaluation, recruitment poses a significant challenge. This study aims to provide an initial assessment of the platform and collect preliminary data to estimate the required sample size and number of sessions for future studies. Methods: We conducted a pilot randomized controlled trial (RCT) to assess platform usability and its effect on reaction time and keystroke accuracy. Four children, aged 8.5 ± 2.38, participated in seven 30 min sessions. They were randomly assigned in equal numbers, with two participants in the intervention group (using the platform) and two in the control group (receiving standard therapy). Usability was evaluated through a questionnaire completed by two therapists. Key outcome measures included the System Usability Scale (SUS), reaction time (RT), and keystroke accuracy (NIS). Results: Despite the small sample size and recruitment challenges, the data allowed for preliminary estimates of the sample size and number of sessions required for future studies. Therapists reported positive usability scores. Children using the platform showed promising trends in RT and NIS, suggesting improved engagement with cause–effect tasks. Conclusions: The findings support the feasibility and usability of the mobility platform by therapists, although some improvements should be implemented in the future. No conclusive evidence was found regarding the platform’s effectiveness on causal learning, despite a positive trend over time. This pilot study also provides valuable insights for designing larger, statistically powered trials, particularly focused on NIS. Full article
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24 pages, 2716 KB  
Article
Interactive Indoor Audio-Map as a Digital Equivalent of the Tactile Map
by Dariusz Gotlib, Krzysztof Lipka and Hubert Świech
Appl. Sci. 2025, 15(16), 8975; https://doi.org/10.3390/app15168975 - 14 Aug 2025
Viewed by 544
Abstract
There are still relatively few applications that serve the function of a traditional tactile map, allowing visually impaired individuals to explore a digital map by sliding their fingers across it. Moreover, existing technological solutions either lack a spatial learning mode or provide only [...] Read more.
There are still relatively few applications that serve the function of a traditional tactile map, allowing visually impaired individuals to explore a digital map by sliding their fingers across it. Moreover, existing technological solutions either lack a spatial learning mode or provide only limited functionality, focusing primarily on navigating to a selected destination. To address these gaps, the authors have proposed an original concept for an indoor mobile application that enables map exploration by sliding a finger across the smartphone screen, using audio spatial descriptions as the primary medium for conveying information. The spatial descriptions are hierarchical and contextual, focusing on anchoring them in space and indicating their extent of influence. The basis for data management and analysis is GIS technology. The application is designed to support spatial orientation during user interaction with the digital map. The research emphasis was on creating an effective cartographic communication message, utilizing voice-based delivery of spatial information stored in a virtual building model (within a database) and tags placed in real-world buildings. Techniques such as Text-to-Speech, TalkBack, QRCode technologies were employed to achieve this. Preliminary tests conducted with both blind and sighted people demonstrated the usefulness of the proposed concept. The proposed solution supporting people with disabilities can also be useful and attractive to all users of navigation applications and may affect the development of such applications. Full article
(This article belongs to the Section Earth Sciences)
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18 pages, 554 KB  
Article
Semantic Processing Deficits and Their Use as Early Biomarkers in Schizophrenia
by Alfonso Martínez-Cano, Begoña Polonio-López, Juan José Bernal-Jiménez, José L. Martín-Conty, Laura Mordillo-Mateos and Manuela Martinez-Lorca
Healthcare 2025, 13(16), 1958; https://doi.org/10.3390/healthcare13161958 - 10 Aug 2025
Viewed by 477
Abstract
Background: Schizophrenia is a serious mental health condition that usually begins in adolescence and often progresses to become a chronic and disabling illness. Difficulties in communication and anomalous language are considered core elements of the disorder. Several studies have demonstrated the presence [...] Read more.
Background: Schizophrenia is a serious mental health condition that usually begins in adolescence and often progresses to become a chronic and disabling illness. Difficulties in communication and anomalous language are considered core elements of the disorder. Several studies have demonstrated the presence of semantic deficits in individuals with schizophrenia, suggesting that these deficits may constitute a core feature of the disorder. However, research in this area remains limited, particularly among individuals at high risk of developing the disorder. The central hypothesis of this study is that individuals with schizophrenia exhibit semantic processing deficits, even when cognitive function, psychopathology, and medication are controlled for. We also hypothesize that similar, albeit milder, deficits can be observed in individuals at high risk of developing the condition. Methods: This cross-sectional study included 155 participants divided into three groups: 46 with schizophrenia, 42 at high risk due to factors like substance use and high psychopathology, and 67 controls matched by sex, age, and education. Semantic processing was assessed using the semantic relations subtest from the BETA, controlling for medication and cognitive performance as possible confounding factors. Results: the results revealed significant differences among the three groups (F = 28.543; p < 0.001); the schizophrenia group performed poorly, followed by the high-risk group, and then the control group, which showed no deficits. Error patterns were also analyzed to assess group differences, revealing that the schizophrenia group had the lowest scores and the most specific deficits. These findings highlight the relevance of semantic evaluation in schizophrenia and, more importantly, in individuals at high risk of developing the disorder, as such deficits may serve as early biomarkers. Additionally, significant correlations were found between semantic performance and variables such as medication (r = −0.342; p = 0.020), cognition (r = −0.259; p = 0.001), and psychopathology (r = −0.566; p < 0.001). Conclusions: This emphasizes the need to control these factors to avoid misinterpreting semantic deficits in both schizophrenia and high-risk groups. The present research is not without limitations; for example, the study design does not allow for conclusions of causality but rather of correlation. Full article
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19 pages, 253 KB  
Article
Hybrid Working Policies, Reasonable Accommodation, and Staff with Disabilities: A Case Study of European Universities
by Lisa Waddington
Laws 2025, 14(4), 56; https://doi.org/10.3390/laws14040056 - 8 Aug 2025
Viewed by 1261
Abstract
The post-pandemic world has seen a large shift to hybrid working, including for staff at European universities. Under the UN Convention on the Rights of Persons with Disabilities, European Union law, and the related non-discrimination law of the EU Member States, employers are [...] Read more.
The post-pandemic world has seen a large shift to hybrid working, including for staff at European universities. Under the UN Convention on the Rights of Persons with Disabilities, European Union law, and the related non-discrimination law of the EU Member States, employers are obliged to provide reasonable accommodations to staff members with a disability, including allowing them to work on a hybrid basis and providing additional support to facilitate this where this is needed for a disability-related reason. Hybrid working potentially offers a number of advantages for persons with disabilities, including increased flexibility and autonomy, reduced need for commuting, and generally allowing staff to arrange their work around health-related limitations. Universities now usually have policies on hybrid working. This article considers whether and how hybrid working policies at seven European universities address the specific situation of persons with disabilities. It reveals a diversity of approaches, including policies in which staff with disabilities are ‘invisible’ and policies that pay significant attention to ensuring that staff with disabilities are able to benefit from hybrid working and are provided with suitable accommodations. It argues that university hybrid working policies should address the situation of staff with disabilities and make explicit links with the duty to provide reasonable accommodation. Full article
24 pages, 5018 KB  
Article
Machine Learning for the Photonic Evaluation of Cranial and Extracranial Sites in Healthy Individuals and in Patients with Multiple Sclerosis
by Antonio Currà, Riccardo Gasbarrone, Davide Gattabria, Nicola Luigi Bragazzi, Giuseppe Bonifazi, Silvia Serranti, Paolo Missori, Francesco Fattapposta, Carlotta Manfredi, Andrea Maffucci, Luca Puce, Lucio Marinelli and Carlo Trompetto
Appl. Sci. 2025, 15(15), 8534; https://doi.org/10.3390/app15158534 - 31 Jul 2025
Viewed by 445
Abstract
This study aims to characterize short-wave infrared (SWIR) reflectance spectra at cranial (at the scalp overlying the frontal cortex and the temporal bone window) and extracranial (biceps and triceps) sites in patients with multiple sclerosis (MS) and age-/sex-matched controls. We sought to identify [...] Read more.
This study aims to characterize short-wave infrared (SWIR) reflectance spectra at cranial (at the scalp overlying the frontal cortex and the temporal bone window) and extracranial (biceps and triceps) sites in patients with multiple sclerosis (MS) and age-/sex-matched controls. We sought to identify the diagnostic accuracy of wavelength-specific patterns in distinguishing MS from normal controls and spectral markers associated with disability (e.g., Expanded Disability Status Scale scores). To achieve these objectives, we employed a multi-site SWIR spectroscopy acquisition protocol that included measurements from traditional cranial locations as well as extracranial reference sites. Advanced spectral analysis techniques, including wavelength-dependent absorption modeling and machine learning-based classification, were applied to differentiate MS-related hemodynamic changes from normal physiological variability. Classification models achieved perfect performance (accuracy = 1.00), and cortical site regression models showed strong predictive power (EDSS: R2CV = 0.980; FSS: R2CV = 0.939). Variable Importance in Projection (VIP) analysis highlighted key wavelengths as potential spectral biomarkers. This approach allowed us to explore novel biomarkers of neural and systemic impairment in MS, paving the way for potential clinical applications of SWIR spectroscopy in disease monitoring and management. In conclusion, spectral analysis revealed distinct wavelength-specific patterns collected from cranial and extracranial sites reflecting biochemical and structural differences between patients with MS and normal subjects. These differences are driven by underlying physiological changes, including myelin integrity, neuronal density, oxidative stress, and water content fluctuations in the brain or muscles. This study shows that portable spectral devices may contribute to bedside individuation and monitoring of neural diseases, offering a cost-effective alternative to repeated imaging. Full article
(This article belongs to the Special Issue Artificial Intelligence in Medical Diagnostics: Second Edition)
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30 pages, 1032 KB  
Review
Circulating Biomarkers for the Early Diagnosis of Alzheimer’s Disease
by Vharoon Sharma Nunkoo, Anamaria Jurcau, Mihaela Les, Alexander Cristian, Marius Militaru, Cristian Marge, Diana Carina Iovanovici and Maria Carolina Jurcau
Int. J. Mol. Sci. 2025, 26(15), 7268; https://doi.org/10.3390/ijms26157268 - 27 Jul 2025
Cited by 2 | Viewed by 2293
Abstract
With a rapidly growing incidence and prevalence, Alzheimer’s disease (AD) is rapidly becoming one of the most disabling, lethal, and expensive diseases of the century. To diagnose AD as early as possible, the scientific world struggles to find reliable and non-invasive biomarkers that [...] Read more.
With a rapidly growing incidence and prevalence, Alzheimer’s disease (AD) is rapidly becoming one of the most disabling, lethal, and expensive diseases of the century. To diagnose AD as early as possible, the scientific world struggles to find reliable and non-invasive biomarkers that could predict the conversion of mild cognitive impairment to AD and delineate the ongoing pathogenic vicious pathways to be targeted with therapy. Research supports the use of blood biomarkers, such as Aβ1-42/Aβ1-40 ratio, phosphorylated tau181, and p-tau217 for diagnostic purposes, although the cut-offs are not clearly established and can depend on the assays used. For more accurate diagnosis, markers of neurodegeneration (neurofilament light) and neuroinflammation (glial fibrillary acidic protein) could be introduced in the biomarker panel. The recent approval of the Lumipulse G p-tau217/Aβ1-42 plasma ratio by the FDA for the early detection of amyloid plaques associated with Alzheimer’s disease in adult patients, aged 55 years and older, exhibiting signs and symptoms of the disease represents a significant advancement in the diagnosis of Alzheimer’s disease, offering a more accessible and less invasive way to diagnose this devastating disease and allow potentially earlier access to treatment options. Full article
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16 pages, 670 KB  
Systematic Review
Pharmacogenetic Implications for Antidepressant Therapy in Major Depression: A Systematic Review Covering 2019–2024
by Anna Fornaguera and Marta Miarons
J. Clin. Med. 2025, 14(14), 5102; https://doi.org/10.3390/jcm14145102 - 18 Jul 2025
Viewed by 1778
Abstract
Background/Objectives: Major depressive disorder (MDD), including late-onset forms, is a prevalent and disabling condition. Despite multiple pharmacological treatment options, over half of patients fail to achieve full remission. This systematic review aims to assess current evidence on the influence of pharmacogenetic factors [...] Read more.
Background/Objectives: Major depressive disorder (MDD), including late-onset forms, is a prevalent and disabling condition. Despite multiple pharmacological treatment options, over half of patients fail to achieve full remission. This systematic review aims to assess current evidence on the influence of pharmacogenetic factors on antidepressant response and safety, with a focus on patients with major and late-life depression. Methods: We conducted a systematic review following PRISMA guidelines (PROSPERO: CRD42020212345). Studies published in the past five years involving adult patients with MDD or late-onset depression and pharmacogenetic data were included. Results: From 793 abstracts screened, 29 studies with 39,975 participants were included. CYP2C19 and CYP2D6 were the most frequently analyzed genes (41% and 17% of studies, respectively). Poor metabolizers for CYP2C19 showed higher plasma levels of SSRIs, leading to increased adverse effects. In contrast, ultrarapid metabolizers had significantly lower response rates. Variants in SLC6A4 and other genes (e.g., HTR2A, ABCB1) were also associated with treatment outcomes. Combinatorial pharmacogenetic testing showed superior predictive value compared to single-gene approaches. Conclusions: Genetic variants in CYP2C19, CYP2D6, and SLC6A4 may affect the efficacy and tolerability of antidepressant therapy. Integrating this information into clinical practice may allow more personalized prescribing and improved outcomes. Full article
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