Visio

Renal cell carcinoma (RCC) is a prevalent malignancy with highly variable outcomes. MicroRNA-15a (miR-15a) has emerged as a promising prognostic biomarker in RCC, linked to angiogenesis, apoptosis, and proliferation. Radiogenomics integrates radiological features with molecular data to non-invasively predict biomarkers, offering valuable insights for precision medicine. This study aimed to develop a machine learning-assisted radiogenomic model to predict miR-15a expression in RCC. A retrospective analysis was conducted on 64 RCC patients who underwent preoperative multiphase contrast-enhanced CT or MRI. Radiological features, including tumor size, necrosis, and nodular enhancement, were evaluated. MiR-15a expression was quantified using real-time qPCR from archived tissue samples. Polynomial regression and Random Forest models were employed for prediction, and hierarchical clustering with K-means analysis was used for phenotypic stratification. Statistical significance was assessed using non-parametric tests and machine learning performance metrics. Tumor size was the strongest radiological predictor of miR-15a expression (adjusted R2 = 0.8281, p < 0.001). High miR-15a levels correlated with aggressive features, including necrosis and nodular enhancement (p < 0.05), while lower levels were associated with cystic components and macroscopic fat. The Random Forest regression model explained 65.8% of the variance in miR-15a expression (R2 = 0.658). For classification, the Random Forest classifier demonstrated exceptional performance, achieving an AUC of 1.0, a precision of 1.0, a recall of 0.9, and an F1-score of 0.95. Hierarchical clustering effectively segregated tumors into aggressive and indolent phenotypes, consistent with clinical expectations. Radiogenomic analysis using machine learning provides a robust, non-invasive approach to predicting miR-15a expression, enabling enhanced tumor stratification and personalized RCC management. These findings underscore the clinical utility of integrating radiological and molecular data, paving the way for broader adoption of precision medicine in oncology.

ObjectiveThis paper presents the results from a competition challenging participants to develop entity linking models using a subset of annotated MIMIC-IV-Note data and the SNOMED CT Terminology.Materials and MethodsAs a basis for this work, a large set of 74 808 annotations was curated across 272 discharge notes spanning 6624 unique clinical concepts. Submissions were evaluated using the mean Intersection-over-Union metric, evaluated at the character level with the 3 best performing solutions awarded a cash prize.ResultsThe winning solutions employed contrasting approaches: a dictionary-based method, an encoder-based method, and a decoder-based method.DiscussionOur analysis reveals that concept frequency in training data significantly impacts model performance, with rare concepts proving particularly challenging. High concept entropy and annotation ambiguity were also associated with decreased performance.ConclusionFindings from this work suggest that future projects should focus on improving entity linking for rare concepts and developing methods to better leverage contextual information when training examples are scarce.

Infantile nystagmus (IN) is a neuro-ophthalmic condition characterized by involuntary rhythmic eye movements that manifest early in childhood. The surge of recent articles focusing on the treatment of IN demonstrates the need for a new systematic review of the intervention options. The diverse causes of IN complicate its differentiation from symptoms secondary to other conditions, presenting challenges for clinical decision-making and systematic review. This study provides the first extensive, focused summary of symptomatic treatment options for IN. We noted that current approaches can be broadly categorized into four types of interventions: surgical, pharmacological, optical, and perceptual training methods, each offering distinct benefits and limitations. Most of the included studies (28/52) focused on invasive surgical interventions. Alternatively, the nascent perceptual training showed promising improvements in both visual acuity (VA) and quality of life (QoL). Heterogeneous reporting of treatment outcomes for IN hindered meta-analysis and precise comparison of intervention effects, underscoring an urgent need for standardized outcome measures in future studies. We further suggest including functional vision measurements and QoL assessments to better address patient well-being, rethinking invasive surgical approaches and exploring non-invasive treatment modalities in clinical practice.

IntroductionGlobal Visual Selective Attention (VSA) is the ability to integrate multiple visual elements of a scene to achieve visual overview. This is essential for navigating crowded environments and recognizing objects or faces. Clinical pediatric research on global VSA deficits primarily focuses on autism spectrum disorder (ASD). However, in children with cerebral visual impairment (CVI) and other neurodevelopmental disorders (ADHD, dyslexia) similar deficits are reported. The aim of this study was to investigate global VSA performance in children with CVI, ADHD, dyslexia and neurotypical children by combing gaze-based measures with conventional neuropsychological tasks.MethodsWe included children aged 6–12 years with CVI (n = 20), ADHD (n = 30), dyslexia (n = 34) and neurotypical development (n = 37), all with normal verbal IQ. Eye tracking measurements were stepwise introduced within three global VSA tasks: Gestalt Closure (no eye tracking), Navon stimuli (eye tracking-based qualitative analysis) and Kanizsa Illusory Contours (KIC; eye tracking-based quantitative analysis). Verbal responses were compared with non-verbal gaze behavior.ResultsChildren with CVI had significantly lower success rates on Gestalt Closure recognition, prolonged verbal response times on Navon stimuli, and decreased verbal and gaze performance on the KIC task compared to all other groups, irrespective of visual acuity. Children with ADHD and dyslexia performed similar to neurotypical children on all tasks.DiscussionThe results suggest а distinct global VSA deficit in children with CVI, which aligns with clinical observations of symptoms in daily life. Incorporating gaze-based analyses provided new information about search strategies beyond verbal answers and made the KIC task more inclusive for children with language and motor disabilities. Assessing global VSA within clinical CVI assessments could improve the differential diagnostic evaluations among children with CVI, ADHD and dyslexia, leading to more personalized treatment approaches.

ABSTRACT Daily problems of children with Cerebral Visual Impairment (CVI) are often misinterpreted as symptoms of behavioural disorders or learning disabilities instead of higher order visual function (HOVF) deficits. It is difficult to differentiate between various paediatric clinical groups based on daily manifestations. We used two CVI inventories (V-CVI-I, HVFQI) and an ADHD questionnaire (AVL) to compare parent-reported visual and behavioural problems of children with CVI, ADHD, dyslexia and neurotypical children (Age 6–15, Verbal Intelligence > 70). Our results show a higher percentage of parent-reported visual problems in children with CVI compared to all other groups, which was not affected by their visual acuity levels. On most HOVF categories, a higher percentage of parent-reported visual problems was also found in children with ADHD or dyslexia compared to neurotypical children. Children with ADHD had significantly more parent-reported behavioural problems, but more behavioural problems were reported by the parents of children with CVI compared to neurotypical children as well. Our findings complicate using the existing inventories for initial screening and referral of children with potential CVI. We propose a shortened screening list to improve the potential differentiation between CVI and ADHD or dyslexia based on parent-reported visual problems in everyday life.

Objective:The objective of the present study is to expand our understanding of visual complaints in people with multiple sclerosis (MS) with the aim of exploring potential rehabilitation approaches for treating visual complaints. Visual complaints are increasingly recognized as a core manifestation of MS. Up to 90% of people with MS report all kinds of visual complaints, such as blurry vision, double vision, being blinded by bright light, a reduced visual field and having trouble with depth perception. Since intact vision is quintessential to many activities of daily life, such as reading or car driving, these complaints affect independent participation to a great extent. The complaints cannot be fully explained by optical neuritis (a common symptom of MS) or other treatable visual or ophthalmological disorders. Moreover, there are no rehabilitation programs available for visual complaints in people with MS. However, the complaints are not yet understood well enough to develop effective rehabilitation strategies to reduce the impact of the visual complaints.Participants and Methods:Visual complaints were assessed using the Screening Visual Complaints questionnaire. 68 people with MS with visual complaints, and 37 with hardly any visual complaints received a standard visual function assessment and a neuropsychological assessment. Correlations between the visual complaints, visual functions and cognitive functions were calculated. In addition, correlations were calculated between several visual functions and a composite score of the neuropsychological assessment.Results:Only some specific visual measures related to visual complaints, with small to moderate effect sizes. While most specific cognitive functions did not show correlations, measures indicative of overall cognitive capacity in people with MS (such as motor speed) consistently correlated with different kinds of visual complaints. Additionally, visual functions that related to visual complaints also correlated with the composite score for cognitive functioning.Conclusions:Our study serendipitously showed that in developing or composing effective rehabilitation strategies for visual complaints, we should look beyond a person’s visual functioning: first, the overall cognitive capacity should be taken into account. Second, visual functioning and cognitive functioning are closely related. These results indicate that visual complaints may be a result of a general decline of the visual and/or cognitive system as one. When treating these complaints, low vision rehabilitation and neuropsychological rehabilitation strategies may be combined. Strategies should not focus on specific visual or cognitive functions, but at making the visual world more easily accessible, or more easily visible, to reduce the impact on the visual system and cognitive capacity. Strategies could range from applying more contrast in the environment to psycho-education. Future research should focus on developing rehabilitation programs and assessing their effectiveness in people with MS or with other types of non-acquired brain injuries.

Visual complaints can have a vast impact on the quality of life of people with Parkinson's disease (PD). In clinical practice however, visual complaints often remain undetected. A better understanding of visual complaints is necessary to optimize care for people with PD and visual complaints. This study aims at determining the prevalence of visual complaints experienced by a large outpatient cohort of people with PD compared to a control group. In addition, relations between visual complaints and demographic and disease-related variables are investigated. The Screening Visual Complaints questionnaire (SVCq) screened for 19 visual complaints in a cohort of people with idiopathic PD (n = 581) and an age-matched control group without PD (n = 583). People with PD experienced significantly more complaints than controls, and a greater impact of visual complaints on their daily lives. Complaints that were most common ('often/always') were unclear vision (21.7%), difficulty reading (21.6%), trouble focusing (17.1%), and blinded by bright light (16.8%). Largest differences with controls were found for double vision, needing more time to see and having trouble with traffic participation due to visual complaints. Age, disease duration, disease severity, and the amount of antiparkinsonian medication related positively to the prevalence and severity of visual complaints. Visual complaints are highly prevalent and occur in great variety in people with PD. These complaints progress with the disease and have a large impact on the daily lives of these people. Standardized questioning is advised for timely recognition and treatment of these complaints.

Programming education is strongly emerging in elementary and high school. Diversity and inclusion are important topics, however, insights on suited programming materials for younger learners with visual impairments are lacking. A wide range of programming materials for children exists, diverse in both what is being programmed (output) and how this is done (input), yet often relying on visual features. An understanding of the usability and accessibility aspects of these different materials is important to inform educational practice and to increase understanding of what makes programming materials suited for low vision and blind children. The aim of this study is to explore the usability and accessibility of programming materials currently used in education to low vision and blind children in the Netherlands. A focus group was conducted with six teachers or IT experts, all working with the target group in special education. The thematic analysis of the discussion of 25 materials (including unplugged lessons, robots and robotic kits, block-based and text-based languages) showed the potential of several materials, especially unplugged lessons, and the continuing search for suited materials and workforms specifically for the blind children. Furthermore, prioritizing “fun” and close connections to children’s daily life as well as careful explorations of usability at the cognitive level came forward as important factors for future research and development in programming materials for low vision and blind children. These insights can contribute to obtaining an inclusive approach to programming for young learners.

SIGNIFICANCEThe Developmental Eye Movement (DEM) test, a test purported to assess oculomotor skills, does not detect eye movement disorder in nystagmus syndromes. The test should not be used for the clinical evaluation of oculomotor disorders.PURPOSEThe DEM test ratio compares a horizontal number naming subtest with a vertical one to identify oculomotor problems independent of a child's visual-verbal naming skills. Here, we tested the construct validity of this method by comparing scores of children with and without pathologic nystagmus. Such a nystagmus disturbs normal fixation and saccadic behavior because of the presence of involuntary rhythmic oscillations of the eyes. Therefore, if the ratio is indeed a comprehensive measure of oculomotor problems, children with nystagmus should show an increased ratio score.METHODSThe DEM test performances of normally sighted children (n = 94), children with ocular visual impairments (VIo; n = 33), and children with cerebral visual impairment (n = 30) were analyzed using linear regression. Part of the children with VIo and cerebral visual impairment had either fusion maldevelopment nystagmus syndrome (n = 8) or infantile nystagmus syndrome (n = 20), whereas the others showed no pathologic nystagmus.RESULTSThe times needed for the horizontal and vertical subtests were significantly different between children with normal vision, VIo, and cerebral visual impairment (P < .001). However, the presence of nystagmus did not add significantly to the horizontal and vertical times (P > .20), nor did it have an effect on the ratio (P > .10).CONCLUSIONSThe DEM test ratio is not sensitive to fixation and saccade abnormalities associated with nystagmus, indicating that it does not have general construct validity to detect true eye movement disorders. Although not suitable for the evaluation of oculomotor disorders, the subtests do have clinical relevance in the diagnosis of cerebral visual impairment.