Search Results (1,980)

This study aimed to analyze the perceptions of students with disabilities regarding the barriers to inclusion in higher education institutions in northeastern Colombia. Employing a mixed-methods approach, data were collected through questionnaires and semi-structured interviews with 28 students with disabilities, focusing on socio-demographic data and their personal university experiences. The findings revealed that physical and visual impairments were the most common (34.6% each) and the primary barriers were insufficient pedagogical strategies. An association between the type of disability and perceived support was identified. In conclusion, this study enabled the development of a comprehensive model for university inclusion in the northeastern region. Full article

Retinal dysplasia is a genetically heterogeneous ocular disorder in dogs, characterized by abnormal retinal development, resulting in a range of visual impairments from mild to complete blindness. The objective of this study was to investigate the prevalence and genetic basis of retinal dysplasia in the Czechoslovakian Wolfdog breed. An ophthalmic examination was conducted on a cohort of 117 Czechoslovakian Wolfdogs, which revealed a prevalence of multifocal retinal dysplasia of 5.13%. A genome-wide case–control association study was conducted on a subset of 36 adult dogs to explore the underlying genetic architecture of multifocal retinal dysplasia in this breed. The GWAS identified a suggestive association with a locus on canine chromosome CFA37. The strongest association signal for SNP marker BICF2G630130992 (p = 1.29 × 10⁻⁶) was identified in the first intron of the CYP27A1 gene, which encodes a cytochrome P450 enzyme involved in vitamin D metabolism and potentially retinal function. The region of CFA37 contains several other genes that have been previously implicated in ocular development and disease. Further studies utilizing next-generation sequencing and functional analyses are required to validate these findings, identify the causative variants, and fully elucidate the genetic architecture of retinal dysplasia in this breed. Full article

Purpose: To present the current state of knowledge and our diagnosed patients with congenital stationary night blindness. Material and methods: Data from the PubMed database on CSNB and the presentation of patients with complete and incomplete forms of this condition. Patients underwent routine ophthalmologic examination, optical coherence tomography, and full-field elecroretinogram (ERG-ISCEV), ON-OFF ERG. Results: CSNB is a group of rare, non-progressive retinal diseases characterized by impaired night vision from birth, reduced visual acuity, myopia, nystagmus, and strabismus. Color vision and fundus imaging are most often normal. CSNB is mainly inherited autosomal recessively. Eighteen genes with more than 360 pathogenic variants have been detected in this condition. The effect of gene mutations is to damage the function of rods (Riggs type) and bipolar cells of the retina (Schubert–Bornstein type). The key diagnostic test in CSNB is ERG. In diagnosed cases of complete CSNB the following types have been registered: rod ERG absent, rod–cone response negative (ON bipolar cell defect), and photopic ERG enlarged a-wave. In incomplete CSNB-rod ERG-subnormal, rod-cone response-negative (bipolar cell defect ON, OFF), photopic ERG-subnormal with a double peak in the flicker fusion frequency. Knowledge of the phenotypic changes associated with various gene pathogenic variants is still very limited, hindering the ability to correctly diagnose a patient based on clinical examination and additional ophthalmologic tests. However, some phenotypic features found in our cases were consistent with pathogenic variants previously described in the literature and helped to make a diagnosis that was proven by genetic testing. Conclusions: Congenital stationary night blindness should be considered in the diagnosis of retinal diseases manifesting with impaired night vision. A correct diagnosis is especially important for the patients, as it is nonprogressive, unlike other diseases that should be considered in the differential diagnoses. Full article

Background: Ophthalmic emergencies are acute conditions that progress rapidly, posing a significant threat to a patient’s vision and requiring urgent intervention to prevent permanent visual impairment. This study aimed to assess the general awareness of ocular chemical burns and the adequacy of the immediate response measures while also seeking to improve the understanding of these injuries and contribute to promoting a healthier society. Methods: A comprehensive literature review was performed, and the most frequently reported questions were incorporated into the original survey. An anonymous questionnaire, available both online and in print, was developed to conduct a cross-sectional study to assess the general knowledge of the causes, symptoms, and appropriate first aid measures to be applied in cases of chemical ocular trauma. Results: Between April and May 2024, 175 individuals completed the questionnaire and were included in the study. More than half (54%) of the tested population demonstrated a poor level of knowledge about chemical ocular injuries, and only 30.9% of the respondents correctly indicated the need for imminent treatment. Twenty percent of the respondents could not identify whether alkalis or acids are more hazardous. Additionally, 5.7% of the respondents falsely considered consultation with an emergency department a priority before thorough irrigation. Most of the respondents (60.6%) incorrectly indicated that the appropriate first aid measures and treatment depend on the substance involved, and 68.1% of the respondents stated that treatment in the emergency department should be delayed, allowing for anamnesis collection and thorough examination. Conclusions: Ocular chemical injuries can substantially impact an individual’s quality of life. The present study found that the public knowledge concerning ocular chemical trauma, and the necessary immediate treatment is insufficient. Public education is vital, as delaying prompt and thorough irrigation at the chemical injury site may result in irreversible complications. Full article

Delirium is a highly prevalent and costly neuropsychiatric condition that affects up to 87% of critically ill hospitalized patients. It impacts various cognitive domains, including attention, memory, perception, and motor functions, with symptoms such as behavioral changes, hallucinations, slurred speech, visual impairments, and fatigue. Non-pharmacological interventions have been shown to reduce the incidence and duration of delirium, with strategies like reality orientation, cognitive stimulation, family support, and physical support. However, the scalability of these interventions in hospital settings is limited by resource constraints, low patient engagement, and the complexity of delivery. Digital technology-based cognitive stimulation offers a potential solution to these barriers, though evidence supporting its effectiveness is currently insufficient. This narrative literature review explores both traditional and novel digital technology-based cognitive stimulation techniques for the prevention and management of delirium in acute hospital settings. Full article

This study aims to describe neurological, visual, and auditory findings in children whose mothers had confirmed Zika virus (ZIKV) infection during pregnancy, with most of these children not presenting congenital microcephaly; Methods: an observational, longitudinal, and prospective study was conducted in Rio de Janeiro, Brazil, from March 2015 to January 2017, involving children with in utero exposure to Zika virus, following from birth up to 30 months of age. Results: Of the 2882 pregnant women admitted, 116 had a suspected ZIKV infection, of whom 33 had laboratory confirmation. Only one child presented with congenital microcephaly. Despite this, neurodevelopment delay was observed in 36.4% of children evaluated, radiological abnormalities in 29.1%, auditory abnormalities in 8.3%, and ophthalmological abnormalities in 10%. Conclusions: Newborns of mothers with confirmed ZIKV infection during pregnancy may present with varying degrees of visual, auditory, and neurological impairment, despite the presence of congenital microcephaly. Full article

This study aims to investigate the potential impact of commercial low-vision filters on intrinsically photosensitive retinal ganglion cells (ipRGCs), which have significantly advanced our understanding of non-image-forming visual functions. A comprehensive analysis by modeling the potential responses of ipRGCs to commercially available low-vision filters was conducted, focusing on how the spectral properties of these filters could alter ipRGC function. Additionally, the influence of aging on the crystalline lens was considered. Colorimetric changes in the transmitted light by these filters were also analyzed, highlighting variations based on the manufacturer. The study uncovered the diverse responses of ipRGCs to fifty low-vision filters, shedding light on the potential modifications in ipRGC stimulation and visual function. Notably, the consideration of aging in the crystalline lens revealed significant alterations in ipRGC response. Furthermore, the analysis of colorimetric changes demonstrated substantial differences in the light transmitted by these filters, with variations dependent on the manufacturer. This research underscores the nuanced relationship between low-vision filters and ipRGCs, providing insights into their potential impact on visual function. The varying responses observed, coupled with the influence of aging on the crystalline lens, emphasize the complexity of this interaction. Additionally, the distinct colorimetric changes based on filter manufacturer suggest the need for tailored approaches in enhancing visual perception for individuals with visual impairments. Full article

Background: In our modern era, stress has become a pervasive challenge, affecting individuals across all ages and backgrounds. Acute or chronic stress and elevated cortisol levels are known to impair neurological function and hinder rehabilitation outcomes. Therefore, effective treatment methods that reduce stress, enhance mental health, and promote overall well-being are urgently needed. The aim of this study was to evaluate the seasonal impact of balneotherapy on distress, as measured by the General Symptoms Distress Scale (GSDS), and well-being, as assessed using the Arizona Integrative Outcomes Scale (AIOS), and the effect of winter balneotherapy on salivary cortisol levels. Methods: In 2023, a multicenter, single-blind, parallel-group, randomized controlled trial was carried out across six medical spa centers in Lithuania. Participants with a stress intensity greater than 3 points on the Visual Analogue Scale (VAS) underwent combined natural resource-based therapies over a 1- to 2-week treatment period. Outcomes were assessed using the General Symptom Distress and Arizona Integrative Outcomes scales, along with salivary cortisol measurements after winter intervention. Results: The results demonstrated a significant reduction in distress intensity by 1–3.5 points (VAS), with winter interventions showing greater efficacy compared to summer. Participants also experienced an increase in well-being by up to 3 points (VAS), improved stress management by up to 1.9 points (VAS), and a reduction in salivary cortisol levels by 0.9 units following winter-based treatments. Some gender differences emerged in specific groups. Conclusions: Our study provides robust evidence for the stress-reducing effects of balneotherapy, particularly highlighting the enhanced efficacy of winter interventions. These findings are especially relevant for neurological rehabilitation, where stress reduction and improved autonomic regulation can support neuroplasticity, recovery processes, and overall quality of life. This research offers valuable insights for developing holistic, seasonally optimized strategies to aid stress management and promote neurological health. Full article

We present the case of an 11-year-old male with bilateral maculopathy caused by exposure to an astronomy laser pointer with an estimated power output of 50–100 mW. Symptoms began after exposure, and initial evaluation revealed a temporal pigment nevus in the left eye. Further examination identified bilateral retinal photoreceptor loss and subfoveal structural changes on optical coherence tomography (OCT), including reduced hyperreflectivity and retinal pigment epithelium (RPE) defects. Visual acuity was recorded as 0.6 in the right eye and 0.4 in the left eye. Laser pointer maculopathy has been increasingly reported, especially in children, raising significant public health concerns. OCT findings commonly reveal hyperreflective outer retinal changes and RPE disruptions. Prognosis varies, ranging from partial recovery to permanent visual impairment. Preventive measures, including public education and regulation of high-powered lasers, are critical to mitigating this avoidable cause of retinal injury. This case highlights the importance of prompt diagnosis, imaging, and awareness to address the growing prevalence of laser-induced ocular injuries. Full article

This paper presents a case study from the Archaeological and Via Flaminia Museum in Cagli (Italy), developed within the ERASMUS+ Next-Museum project, which explores inclusive approaches through the digital transformation of small museums and their connection to the surrounding territory. A key goal was to “return” bronze statuettes to the museum, symbolically compensating the community for their absence. The initiative integrates accessibility and multisensory storytelling following “Design for All” principles. Three installations were implemented: tactile replicas of the statuettes produced through 3D printing, a sensorized table for interactive storytelling, and a story map displayed on a touchscreen for exploring local archaeological heritage. The design prioritized inclusivity, particularly for visitors with visual impairments, while addressing practical constraints such as the need for a mobile and flexible setup within a limited budget. Verification and validation tests were conducted with visually impaired participants during the pre-opening phase, and the installations were later evaluated using the User Experience Questionnaire, complemented by qualitative feedback. These evaluations highlight the potential of phygital experiences to foster engagement with cultural heritage while addressing technological and design challenges. Full article

Background/Objectives: Preterm infants are at a high risk of neurodevelopmental impairments due to immature brain development and the stressors of the neonatal intensive care unit (NICU) environment. To improve outcomes, incorporating a neuropromotion strategy by promoting nurturing encounters (NEs) is essential. Methods: In this 48-bed tertiary perinatal care center, an informal survey showed that staff lacked consistent knowledge about sensory neurodevelopment, while parents expressed a need for clearer guidance. This paper describes the development and implementation of the Sensory Developmental Care Map (SDCM) as part of a larger quality-improvement initiative. The SDCM is an educational tool designed to guide NICU staff and families in providing neuroprotective and neuropromotive care, based on the infant’s gestational age (GA). The SDCM was created by integrating evidence on sensory development across GAs and providing practical strategies to promote positive sensory input while protecting the developing brain. The map visually indicates when to protect or stimulate each sense, offering clear, developmentally appropriate guidance. Printed and digital versions of the map were made accessible to families and staff, with bedside copies and a poster displayed in the unit. Results: A post-implementation evaluation is ongoing, but preliminary feedback suggests that the SDCM improved the family understanding of sensory developmental care. The SDCM serves as a valuable resource for promoting appropriate sensory input for preterm infants and further enhancing developmentally supportive care within the NICU. Full article

Background: Retinal diseases are emerging as a significant health concern, making early detection and prompt treatment crucial to prevent visual impairment. Optical coherence tomography (OCT) is the preferred imaging modality for non-invasive diagnosis. Both diabetic macular edema (DME) and macular edema secondary to retinal vein occlusion (RVO) present an increase in retinal thickness, posing etiologic diagnostic challenges for non-specialists in retinal diseases. The lack of research on deep learning classification of macular edema secondary to RVO using OCT images motivated us to propose a convolutional neural network model for this task. Methods: The VGG-19 network was fine-tuned with a public dataset to classify OCT images. This network was then used to develop three models: unimodal—the input is only the OCT B-scan; multimodal—the inputs are the OCT B-scan and diabetes information, and multi-image—the inputs are the OCT B-scan, the infrared image, and the diabetes information. Seven hundred sixty-six patients from ULS São João were selected, comprising 208 healthy eyes, 207 with macular edema secondary to RVO, 218 with DME, and 200 with other pathologies. The performance metrics include accuracy, precision, recall, F_0.5 score, and area under the receiver operating characteristic curve (AUROC). Results: The multi-image model achieved better results, with an accuracy of 95.20%, precision of 95.43%, recall of 95.20%, F_0.5-score of 95.32%, F₁-score of 95.21%, and AUROC of 99.59% on the classification task between four classes. Conclusions: This study presents a novel method to distinguish macular edema secondary to RVO and DME using diabetes diagnosis, OCT, and infrared images. This research aims to provide a reliable tool for ophthalmologists, improving the accuracy and speed of diagnoses. Full article

Keratoconus is a progressive eye disease that results in thinning of the cornea, leading to visual impairment. Mitral valve prolapse (MVP) is a common disorder affecting around 2–4% of the general population. Previous studies have found an overrepresentation of MVP in individuals with keratoconus, with a prevalence of 38–65%, suggesting a shared underlying mechanism. In this case-control study, patients with keratoconus were enrolled from a quality and research registry. They were examined by a 2D echocardiography to identify if they had MVP, billowing or normal mitral leaflets. Controls were matched from the population-based Trøndelag Health Study. Patients and controls underwent a detailed echocardiographic examination to detect abnormal mitral valves. We included 101 patients (age 33 [IQR 29–40], 75% male) with keratoconus and 101 matched individuals. MVP was found in 2 (2%), while billowing was found in 5 (5%) of keratoconus patients. No significant association was found between keratoconus and the prevalence of MVP or billowing compared to the control group. Moreover, no associations were found between severity of keratoconus with presence of MVP nor with billowing of the mitral valves. We could not confirm the previously reported association between keratoconus and MVP, suggesting that routine screening for MVP in keratoconus patients may not be warranted. However, we cannot rule out the possibility of an association in other gender, age and ethnic groups different than ours. Full article

Hemifacial microsomia (HFM) is a rare congenital craniofacial deformity that significantly impacts the appearance and hearing. The genetic etiology of HFM remains largely unknown, although genetic factors are considered to be primary contributors. We previously identified CTDSP2 as a potential causative gene in HFM cases. Utilizing CRISPR/Cas9, we knocked out ctdsp2 in zebrafish and analyzed the spatiotemporal expression of ctdsp2 and neural crest cell (NCC) markers through in situ hybridization (ISH). Craniofacial cartilage and chondrocyte phenotypes were visualized using Alcian blue and wheat germ agglutinin (WGA) staining. Cell proliferation and apoptosis were assessed via immunofluorescence with PH3 and TUNEL. RNA sequencing was performed on ctdsp2^−/− embryos and control siblings, followed by rescue experiments. Knockout of ctdsp2 in zebrafish resulted in craniofacial defects characteristic of HFM. We observed abnormalities in NCC apoptosis and proliferation in the pharyngeal arches, as well as impaired differentiation of chondrocytes in ctdsp2^−/− embryos. RNA-Seq analysis revealed significantly higher expression of genes in the p53 signaling pathway in mutants. Furthermore, ctdsp2 mRNA injection and tp53 knockout significantly rescued pharyngeal arch cartilage dysplasia. Our findings suggest that ctdsp2 knockout induces zebrafish craniofacial dysplasia, primarily by disrupting pharyngeal chondrocyte differentiation and inhibiting NCC proliferation through p53 signaling pathway activation. Full article

Background: Assessing visual function and quality of life in children with visual impairments is crucial for understanding its impact and evaluating interventions. While tools exist for developed countries, there is a lack of instruments for rural school-going children in middle- to low-income countries. This study aimed to develop and validate an instrument to measure Children’s Visual Function Quality of Life (CVF-QoL) for South African children aged 6 to 17 with uncorrected refractive errors, visual impairments, or blindness. Methods: The CVF-QoL instrument was created through a literature review and focus group discussions with experts and children. Readability was assessed, resulting in two versions of the CVF-QoL instrument. The contents of both versions were validated by experts, and pre-testing was performed with school children aged 6–17 years. Results: From the literature review, 769 items were identified, and 477 statements were generated from focus group discussions. After merging and eliminating duplicates, 91 items were classified into eight domains. The tool was divided into Version 1.1 for ages 10–17 (89 items) and Version 2.1 for ages 6–9 (63 items), both demonstrating strong clarity, coherence, and relevance. Conclusions: The CVF-QoL instruments are valid for evaluating the quality of life-related to visual function among rural school-going children with visual impairments in South Africa. This instrument thus provides an additional QoL tool to those already existing that may be more appropriate for measuring quality of life for rural school-going children in low- and middle-income countries. Full article