Search Results (384)

Blood iron levels are related to many health conditions, affecting hundreds of millions of individuals worldwide. To aid in the prevention and treatment of iron-related disorders, previous research has developed a low-cost, accurate, point-of-care method for measuring iron from a single finger-prick blood sample. This study builds upon that work by introducing an improved imaging method that accurately reads sensor images irrespective of variations in environmental illumination and camera quality. Smartphone cameras were used as analytical tools, demonstrating an average coefficient of variation of 5.13% across different phone models, and absorbance results were found to be improved by 8.80% compared to the method in a previous study. The proposed method successfully enhances iron detection accuracy under diverse lighting conditions, paving the way for smartphone-based sensing of other colorimetric reactions involving various analytes. Full article

Background/Objectives: While artificial intelligence (AI) is rapidly transforming education, its specific effectiveness for students with learning disabilities (LD) requires rigorous evaluation. This systematic review aims to assess the efficacy of AI-based educational interventions for students with LD, with a specific focus on the methodological quality and risk of bias of the available evidence. Methods: A systematic search was conducted across seven major databases (Google Scholar, ScienceDirect, APA PsycInfo, ERIC, Scopus, PubMed) for experimental studies published between 2022 and 2025. This review followed PRISMA guidelines, using the PICOS framework for inclusion criteria. A formal risk of bias assessment was performed using the ROBINS-I and JBI critical appraisal tools. Results: Eleven studies (representing 10 independent experiments), encompassing 3033 participants, met the inclusion criteria. The most studied disabilities were dyslexia (six studies) and other specific learning disorders (three studies). Personalized/adaptive learning systems and game-based learning were the most common AI interventions. All 11 studies reported positive outcomes. However, the risk of bias assessment revealed significant methodological limitations: no studies were rated as having a low risk of bias, with most presenting a moderate (70%) to high/serious (30%) risk. Despite these limitations, quantitative results from the stronger studies showed large effect sizes, such as in arithmetic fluency (d = 1.63) and reading comprehension (d = −1.66). Conclusions: AI-based interventions demonstrate significant potential for supporting students with learning disabilities, with unanimously positive reported outcomes. However, this conclusion must be tempered by the considerable risk of bias and methodological weaknesses prevalent in the current literature. The limited and potentially biased evidence base warrants cautious interpretation. Future research must prioritize high-quality randomized controlled trials (RCTs) and longitudinal assessments to establish a definitive evidence base and investigate long-term effects, including the risk of cognitive offloading. Full article

Background/Objectives: The increased accessibility of information has resulted in a rise in patients trying to self-diagnose and opting for self-medication, either as a primary treatment or as a supplement to medical care. Our objective was to evaluate the reliability, comprehensibility, and readability of the responses provided by ChatGPT 4.0 when queried about the most prevalent orthopaedic problems, thus ascertaining the occurrence of misguidance and the necessity for an audit of the disseminated information. Methods: ChatGPT 4.0 was presented with 26 open-ended questions. The responses were evaluated by two observers using a Likert scale in the categories of diagnosis, recommendation, and referral. The scores from the responses were subjected to subgroup analysis according to the area of interest (AoI) and anatomical region. The readability and comprehensibility of the chatbot’s responses were analyzed using the Flesch–Kincaid Reading Ease Score (FRES) and Flesch–Kincaid Grade Level (FKGL). Results: The majority of the responses were rated as either ‘adequate’ or ‘excellent’. However, in the diagnosis category, a significant difference was found in the evaluation made according to the AoI (p = 0.007), which is attributed to trauma-related questions. No significant difference was identified in any other category. The mean FKGL score was 7.8 ± 1.267, and the mean FRES was 52.68 ± 8.6. The average estimated reading level required to understand the text was considered as “high school”. Conclusions: ChatGPT 4.0 facilitates the self-diagnosis and self-treatment tendencies of patients with musculoskeletal disorders. However, it is imperative for patients to have a robust understanding of the limitations of chatbot-generated advice, particularly in trauma-related conditions. Full article

Introduction: The figure-of-eight walk test (F8WT) assesses gait on a curved path, reflecting everyday walking complexity. Despite recognized validity among elderly individuals, its application in neurological disorders remains inadequately explored. This scoping review summarizes evidence regarding F8WT use, validity, and clinical applicability among individuals with neurological disorders. Methods: A systematic literature search was conducted in the PubMed, Scopus, Embase, and Web of Science databases. After reading the full text of the selected studies and applying predefined inclusion criteria, seven studies, involving participants with multiple sclerosis (n = 3 studies), Parkinson’s disease (n = 2 studies), and stroke (n = 2 studies), were included based on pertinence and relevance to the topic. Results: F8WT demonstrated strong reliability and validity across various neurological populations and correlated significantly with established measures of gait, balance, and disease severity. Preliminary evidence supports its ability to discriminate individuals at increased fall risk and detect subtle motor performance changes. Discussion: The F8WT emerges as a valuable tool, capturing multifaceted gait impairments often missed by linear walking assessments. Sensitive to subtle functional changes, it is suitable for tracking disease progression and intervention efficacy. Conclusions: F8WT is reliable and clinically relevant, effectively identifying subtle, complex walking impairments in neurological disorders. Full article

Rare genetic diseases are often caused by structural variants (SVs), such as insertions, deletions, duplications, inversions, and complex rearrangements. However, due to the technical limitations of short-read sequencing, these variants remain underdiagnosed. Long-read sequencing technologies, including Oxford Nanopore and Pacific Biosciences high-fidelity (HiFi), have recently advanced to the point that they can accurately find SVs throughout the genome, including in previously unreachable areas like repetitive sequences and segmental duplications. This study underscores the transformative role of long-read sequencing in diagnosing rare diseases, emphasizing the bioinformatics tools designed for detecting and interpreting structural variants (SVs). Comprehensive methods are reviewed, including methylation profiling, RNA-seq, phasing analysis, and long-read sequencing. The effectiveness and applications of well-known tools like Sniffles2, SVIM, and cuteSV are also assessed. Case studies illustrate how this technique has revealed new pathogenic pathways and solved cases that were previously undetected. Along with outlining potential future paths like telomere-to-telomere assemblies and pan-genome integration, we also address existing issues, including cost, clinical validation, and computational complexity. For uncommon genetic illnesses, long-read sequencing has the potential to completely change the molecular diagnostic picture as it approaches clinical adoption. Full article

Contemporary phonetics and speech therapy continuously seek new techniques and methods that could contribute to improving verbal communication for individuals with speech disorders. One such phenomenon, Delayed Auditory Feedback (DAF), involves the speaker hearing their own voice with a specific delay relative to real-time speech. Although the research presented in this study was conducted on healthy individuals, it offers valuable insights into the mechanisms controlling speech, which may also apply to individuals with speech disorders. This article introduces a novel method and measurement setup, focusing on selected key speech signal parameters. To characterize the impact of Delayed Auditory Feedback (DAF) on fluent speakers, speech signal parameters were measured in 5 women and 5 men during spontaneous speech and reading. Parameters such as speech rate, fundamental frequency, formants, speech duration, jitter, and shimmer were analyzed both during and prior to the application of DAF. The results of this study may find practical applications in the field of telecommunications, especially in improving the efficiency and quality of human communication. Full article

Background/Objectives: Food addiction (FA) and binge eating disorder share many overlapping features. Many individuals with binge eating disorder experience stigma; however, less is known about the stigma associated with food addiction. The current study examined the weight-based stigma and mental illness stigma associated with attributing disordered eating behaviours to an FA diagnosis or binge eating disorder diagnosis. Methods: Undergraduate students (N = 177) were randomly assigned to read one of three vignettes (FA, binge eating disorder, or control), all of which described a character experiencing the overlapping features of FA and binge eating disorder; the vignettes differed only regarding the diagnosis to which the eating behaviours were attributed. Participants then completed questionnaires assessing their attitudes towards mental illness and obesity followed by questionnaires assessing their own eating behaviours. Results: There were no significant between-group differences in mental illness stigma or weight-based stigma. Significant differences in stigma were found based on the perceived gender of the vignette character and participants’ own FA and binge eating disorder symptoms. Conclusions: Stigma may not differ based on the diagnosis ascribed to addictive-like eating behaviours. Women may be more stigmatized for addictive-like eating behaviours, and individuals who experience addictive-like eating may be more stigmatizing towards others with these behaviours. Full article

Introduction: Preeclampsia (PE) is a pregnancy-specific disorder characterized by hypertension and organ dysfunction, affecting 5–8% of pregnancies globally and increasing women’s long-term risk of cardiovascular disease (CVD). This study investigates the association between prior PE and cardiovascular health in postmenopausal women. Methods: A total of 108 postmenopausal women with a history of PE and 100 controls without PE were enrolled. Clinical data, blood pressure readings, and echocardiographic assessments were obtained. Statistical analysis was conducted using SPSS version 20.0. Results: Women with prior PE showed a higher prevalence of eccentric left ventricular hypertrophy (37% vs. 23%, p < 0.02) and diastolic dysfunction (51% vs. 39%, p < 0.003). Maternal history of hypertension was also more common in the PE group (55% vs. 26%, p < 0.003). Obesity was more frequent in the PE group, but did not reach statistical significance (p < 0.09). Conclusions: Prior PE was linked to an increased risk of postmenopausal cardiac abnormalities, including left ventricular hypertrophy and diastolic dysfunction. A maternal history of hypertension was also more common among women with prior PE, suggesting a familial connection; PE should be acknowledged as a significant predictor of long-term cardiovascular risk, requiring lifelong monitoring and preventive measures. Full article

Parkinson’s disease (PD) is a progressive neurodegenerative disorder leading to movement impairment, cognitive decline, and psychiatric symptoms. Key manifestations of PD include bradykinesia (the slowness of movement), changes in voice or speech, and gait disturbances. The quantification of neurological disorders through voice analysis has emerged as a rapidly expanding research domain, offering the potential for non-invasive and large-scale monitoring. This review explores existing research on the application of machine learning (ML) in speech, voice, and language processing for the diagnosis of PD. It comprehensively analyzes current methodologies, highlights key findings and their associated limitations, and proposes strategies to address existing challenges. A systematic review was conducted following PRISMA guidelines. We searched four databases: PubMed, Web of Science, Scopus, and IEEE Xplore. The primary focus was on the diagnosis, detection, or identification of PD through voice, speech, and language characteristics. We included 34 studies that used ML techniques to detect or classify PD based on vocal features. The most used approaches involved free speech and reading-speech tasks. In addition to widely used feature extraction toolkits, several studies implemented custom-built feature sets. Although nearly all studies reported high classification performance, significant limitations were identified, including challenges in comparability and incomplete integration with clinical applications. Emerging trends in this field include the collection of real-world, everyday speech data to facilitate longitudinal tracking and capture participants’ natural behaviors. Another promising direction involves the incorporation of additional modalities alongside voice analysis, which may enhance both analytical performance and clinical applicability. Further research is required to determine optimal methodologies for leveraging speech and voice changes as early biomarkers of PD, thereby enhancing early detection and informing clinical intervention strategies. Full article

There is a growing interest in ToM performance among individuals with psychiatric disorders. However, the difference and the performance level between different diagnoses are unclear. Here, we compared the ToM abilities of schizophrenia (SZ), schizoaffective (SZaff), and borderline personality individuals (BPD) with healthy individuals. Individuals with SZ (n = 44), SZaff (n = 11), BPD (n = 11), and healthy individuals (n = 18) were recruited from Mazor Mental Health Center. All groups underwent the Reading Mind in the Eyes (RME) and the Faux Pas recognition test (FB) to assess TOM ability and completed empathy and autism questionnaires. The current results show that the three diagnostic groups performed worse in the RME and FB test compared to healthy individuals. However, women with BPD performed significantly better in ToM tasks than women with SZ and SZaff. Individuals with schizophrenia and BPD scored higher on the autism spectrum questionnaire, while all the diagnostic groups scored lower on the empathy quotient scale than healthy individuals. Finally, a positive correlation was found between ToM ability and empathy. Strikingly, our findings challenge the ability to use ToM as a differential clinical diagnostic tool, especially among men, and strengthen the correlation between decreased empathy and impaired ToM. Full article

Background: Major Depressive Disorder represents a prevalent and critical mental health issue that highlights the pressing need for innovative therapeutic solutions. Recent research has identified dysfunction within the glutamate system as a crucial element influencing both the onset and management of depressive symptoms. Although TAK-653 is a new positive allosteric modulator of AMPA receptors, its effects have not been rigorously examined in models of depression in primates. Methods: To assess its potential antidepressant properties, a chronic unpredictable mild stress protocol was implemented over 12 weeks to create a monkey model of depression, followed by a two-week treatment period with TAK-653. Results: Behavioral evaluations showed that following stress exposure, the monkeys exhibited reduced motivation for food, increased huddling, diminished movement, and a tendency to remain at the lower levels of their enclosure. They also displayed heightened anxiety in response to external stimuli. Plasma analyses indicated higher levels of cortisol, IL-6, and IL-8 in the stressed monkeys compared to baseline readings, confirming the efficacy of the stress-inducing protocol. Post-treatment with TAK-653 resulted in significant improvements, such as enhanced motivation for food, less huddling behavior, greater activity, and a move towards the upper areas of the enclosure. Additionally, the plasma analysis revealed a marked decrease in cortisol and IL-6 levels, along with an increased expression of BDNF. Conclusions: These findings indicate that TAK-653 effectively alleviates depression-like behaviors in nonhuman primate models, thereby paving the way for a promising new strategy in the treatment of depression. Full article

Amblyopia, a neurodevelopmental disorder, is commonly assessed through amblyopic eye visual acuity (VA) deficits, but recent studies also highlight abnormalities in the fellow eye. This study quantified binocular and fellow/dominant eye VA in individuals with amblyopia and strabismus without amblyopia and examined factors influencing these measures, including fixation eye movement (FEM) abnormalities. Identifying which subsets of patients—such as those with nystagmus, concurrent strabismus, or greater fixation instability—exhibit more pronounced deficits in binocular visual acuity and binocular summation can enhance clinical decision-making by enabling tailored interventions and aiding patient counseling. Sixty-eight amblyopic, seventeen strabismic without amblyopia, and twenty-four control subjects were assessed using an adaptive psychophysical staircase procedure and high-resolution video-oculography to evaluate FEMs and fixation instability (FI). Binocular and fellow eye VA were significantly lower in amblyopia, regardless of type or nystagmus presence, whereas binocular and dominant eye VA in strabismus without amblyopia did not differ from the controls. Despite reduced binocular acuity, amblyopic and strabismic subjects exhibited binocular summation, with binocular VA exceeding fellow/dominant eye VA. Reduced binocular VA correlated with greater fellow eye VA deficits, diminished binocular summation, and increased FI in the amblyopic eye. Fellow eye VA deficits were linked to greater amblyopic eye VA deficits, an increased degree of anisometropia, higher FI, and stronger nystagmus correlation. These findings suggest amblyopia affects both visual sensory and motor systems, impacting binocular function and fixation stability, with potential consequences for everyday visuomotor tasks like reading. Full article

Background: Parkinson Disease (PD) is a progressive neurodegenerative disorder. Current therapeutic trials investigate treatments that can potentially modify the disease course. Testing their efficiency requires outcome assessments that are relevant to patients’ daily lives, which include gait and balance. Home-based examinations may enhance patient compliance and, in addition, produce more reliable results by assessing patients more regularly in their familiar surroundings. Objective: The objective of this pilot study was to assess the feasibility of a home-based outcome assessment designed to video record the Timed up and Go (vTUG) test via a study-specific smartphone app for patients with PD. Methods: 28 patients were recruited and asked to perform at home each week a set of three consecutive vTUG tests, over a period of 12 weeks using an app. The videos were subjected to a manual review to ascertain the durations of the individual vTUG phases, as well as to identify any errors or deviations in the setup that might have influenced the result. To evaluate the usability and user-friendliness of the vTUG and app, the System Usability Scale (SUS) and User Experience Questionnaire (UEQ) were administered to patients at the study end. Results: 19 patients completed the 12-week study, 17 of which recorded 10 videos or more. A total of 706 vTUGs with complete timings were recorded. Random Forest Regression yielded “time to walk up” as the most important segment of the vTUG for predicting the total time. Variance of vTUG total time was significantly higher between weeks than it was between the three consecutive vTUGs at one time point [F(254,23) = 6.50, p < 0.001]. The correlation between vTUG total time and UPDRS III total score was weak (r = 0.24). The correlation between vTUG and a derived gait subscore (UPDRS III items 9–13) was moderate (r = 0.59). A linear mixed-effects model revealed a significant effect of patient-reported motion status on vTUG total time. Including additional variables such as UPDRS III gait subscore, footwear and chairs used further improved the model fit. Conclusions: Assessment of gait and balance by home-based vTUG is feasible. Factors influencing the read-out were identified and could be better controlled for future use and longitudinal trials. Full article

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme replacement therapy is pivotal for attenuating progressive and irreversible neurodegeneration. This study aimed to benchmark the performance of Oxford Nanopore long-read sequencing (ONT-LRS) for targeted TPP1 mutation detection in a Turkish CLN2 cohort and to assess its concordance with orthogonal validation methods, including Sanger sequencing and enzymatic activity assays. Using a custom-designed primer panel, the entire TPP1 gene (6846 bp) was sequenced on the Oxford Nanopore (ONT) MinIon platform in seven clinically confirmed CLN2 index patients and sixteen unaffected family members. Detected variants were validated via Sanger sequencing and correlated with TPP1 enzyme activity in leucocytes and dried blood spots. Four pathogenic or likely pathogenic TPP1 variants were identified: c.622C>T (p.Arg208*), c.857A>G (p.Asn286Ser), c.1204G>T (p.Glu402*), and c.225A>G (p.Gln75=), along with fourteen additional benign variants. Variant allele frequencies were 50% for c.622C>T, 28.6% for c.1204G>T, 14.3% for c.857A>G, and 7.1% for c.225A>G. Notably, this is the first report to document the homozygous state of the c.857A>G variant and the compound heterozygous configuration of the c225A>G and c.622C>T variants in CLN2 patients, thereby expanding the known mutational landscape. In contrast, the globally common variant c.509-1G>C was not observed, suggesting regional variation in TPP1 mutation patterns. Consistent with the prior Turkish studies, c.622C>T (p.Arg208*) was the most prevalent variant, followed by c.1204G>T (p.Glu402*). TPP1 enzymatic activity was significantly reduced in all affected individuals (p < 0.0001), supporting the functional relevance of the identified variants. ONT-LRS offers a robust, cost-effective platform for high-resolution analysis of the TPP1 gene. Integrating molecular and biochemical data improves diagnostic precision and supports timely, targeted interventions for CLN2 disease, particularly in regions with high consanguinity and limited diagnostic infrastructure. Full article

Recessive variants of SLC26A4 are a common cause of hereditary hearing impairment and are responsible for non-syndromic enlarged vestibular aqueducts and Pendred syndrome. Patients with bi-allelic SLC26A4 variants often suffer from fluctuating hearing loss and recurrent vertigo, ultimately leading to severe to profound hearing impairment. However, there are currently no satisfactory prevention or treatment options for this condition. The CRISPR/Cas9 genome-editing technique is a well-known tool for correcting point mutations or manipulating genes and shows potential therapeutic applications for hereditary disorders. In this study, we used the homology-independent targeted integration (HITI) strategy to correct the SLC26A4 c.919-2A>G variant, the most common SLC26A4 variant in the Han Chinese population. Next-generation sequencing was performed to evaluate the editing efficiency of the HITI strategy. The results showed that only 0.15% of the reads successfully exhibited HITI integration, indicating that the c.919-2 region may not be a suitable region for HITI selection. This suggests that other site selection or insertion strategies may be needed to improve the efficiency of correcting the SLC26A4 c.919-2A>G variant. This experience may serve as a valuable reference for other researchers considering CRISPR target design in this region. Full article