Search Results (1,110)

Nephrotic syndrome (NS) is characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Apart from the traditional causes of NS, such as minimal change disease, focal segmental glomerulosclerosis, diabetes, infections, malignancies, autoimmune conditions, and nephrotoxic agents, there are also rare causes of NS, whose knowledge is of the utmost importance. The aim of this article was to highlight the less well-known causes that have a significant impact on diagnosis and treatment. Genetic syndromes such as Schimke immuno-osseous dysplasia, familial lecithin-cholesterol acyltransferase deficiency with two clinical variants (fish-eye Disease and the p.Leu364Pro mutation), lead to NS through mechanisms involving podocyte and lipid metabolism dysfunction. Congenital disorders of glycosylation and Nail–Patella Syndrome emphasize the role of deranged protein processing and transcriptional regulation in glomerular injury. The link of NS with type 1 diabetes, though rare, suggests an etiology on the basis of common HLA loci and immune dysregulation. Histopathological analysis, particularly electron microscopy, shows mainly podocyte damage, mesangial sclerosis, and alteration of the basement membrane, which aids in differentiating rare forms. Prompt recognition of these novel etiologies by genetic analysis, renal biopsy, and an interdisciplinary panel is essential to avoid delays in diagnosis and tailored treatment. Full article

Smartphones have revolutionized our daily lives, becoming portable pocket computers with easy internet access. India, the second-highest smartphone and internet user, experienced a significant rise in smartphone usage between 2013 and 2024. Prolonged smartphone use, exceeding 20 min at a time, can lead to physical and mental health issues, including psychophysiological disorders. Digital devices and their extended exposure to blue light cause digital eyestrain, sleep disorders and visual-related problems. This research examines the impact of 1 h smartphone usage on visual fatigue among young Indian adults. A portable, low-cost system has been developed to measure visual activity to address this. The developed visual activity measurement system measures blink rate, inter-blink interval, and pupil diameter. Measured eye activity was recorded during 1 h smartphone usage of e-book reading, video watching, and social-media reels (short videos). Social media reels show increased screen variations, affecting pupil dilation and reducing blink rate due to continuous screen brightness and intensity changes. This reduction in blink rate and increase in inter-blink interval or pupil dilation could lead to visual fatigue. Full article

Background: North Carolina Macular Dystrophy (NCMD) is a non-progressive inherited macular dystrophy characterized by marked phenotypic variability. The genetic etiology of NCMD remains largely unknown, and only a limited number of families have been reported in Europe. Methods: We performed an in-depth investigation of an Italian family affected by NCMD using an integrated approach that combined SNP-array analysis, whole-exome sequencing, and long-read whole-genome sequencing. Additionally, we conducted a comprehensive review of NCMD-related literature. Results: We identified a novel 98 Kb duplication involving both PRDM13 and CCNC genes in a three-generation kindred, where the proband exhibited severe macular alterations, while all other affected family members presented with a milder clinical phenotype. A review of the literature suggests different genotype–phenotype correlations and similar penetrance for duplications and single-nucleotide variants (SNVs) in described families. Specifically, smaller duplications may be associated with more severe phenotypes, while SNVs exhibit high phenotypic variability. Conclusions: In this study, we describe the first NCMD Italian family, in which the integration of second- and third-generation sequencing methods enabled the identification of a novel pathogenic PRDM13 and CCNC duplication, thereby expanding the mutational spectrum of NCMD. Overall, these findings, together with the literature review, highlight the importance of selecting appropriate genetic testing approaches that allow the detection of non-coding variants and CNVs and thus enable accurate diagnosis and effective clinical management of patients and their families. Full article

Multiple Sclerosis (MS) is a chronic neurological disorder affecting the central nervous system that significantly impairs postural control and functional abilities. Robotic-assisted gait training mitigates this functional deterioration. This preliminary study aims to investigate the effects of a four-week gait training with the ExoAtlet II exoskeleton on static balance control and functional mobility in five individuals with MS (Expanded Disability Status Scale ≤ 2.5). Before and after the training, they were assessed in quiet standing under Eyes Open (EO) and Eyes Closed (EC) conditions and with the Timed Up and Go (TUG) test. Center of Pressure (CoP) Sway Area, Antero–Posterior (AP) and Medio–Lateral (ML) CoP displacement, Stay Time, and Total Instability Duration were computed. TUG test Total Duration, sit-to-stand, stand-to-sit, and linear walking phase duration were analyzed. To establish target reference values for rehabilitation advancement, the same evaluations were performed on a matched healthy cohort. After the training, an improvement in static balance with EO was observed towards HS values (reduced Sway Area, AP and ML CoP displacement, and Total Instability Duration and increased Stay Time). Enhancements under EC condition were less marked. TUG test performance improved, particularly in the stand-to-sit phase. These preliminary findings suggest functional benefits of exoskeleton gait training for individuals with MS. Full article

Recent findings highlight that Reelin, a glycoprotein involved in neural development, synaptic plasticity, and neuroinflammation, plays some specific roles in neurodegenerative disorders associated with aging, such as age-related macular degeneration (AMD) and Alzheimer’s disease (AD). Reelin modulates synaptic function and guarantees homeostasis in neuronal-associated organs/tissues (brain and retina). The expression of Reelin is dysregulated in these neurological disorders, showing common pathways depending on chronic neurogenic inflammation and/or dysregulation of the extracellular matrix in which Reelin plays outstanding roles. Recently, the relationship between AMD and AD has gained increasing attention as they share many common risk factors (aging, genetic/epigenetic background, smoking, and malnutrition) and histopathological lesions, supporting certain pathophysiological crosstalk between these two diseases, especially regarding neuroinflammation, oxidative stress, and vascular complications. Outside the nervous system, Reelin is largely produced at the gastrointestinal epithelial level, in close association with innervated regions. The expression of Reelin receptors inside the gut suggests interesting aspects in the field of the gut–brain–eye axis, as dysregulation of the intestinal microbiota has been frequently described in neurodegenerative and behavioral disorders (AD, autism, and anxiety and/or depression), most probably linked to inflammatory, neurogenic mediators, including Reelin. Herein we examined previous and recent findings on Reelin and neurodegenerative disorders, offering findings on Reelin’s potential relation with the gut–brain and gut–brain–eye axes and providing novel attractive hypotheses on the gut–brain–eye link through neuromodulator and microbiota interplay. Neurodegenerative disorders will represent the ground for a future starting point for linking the common neurodegenerative biomarkers (β-amyloid and tau) and the new proteins probably engaged in counteracting neurodegeneration and synaptic loss. Full article

Background/Objectives: Depression is a major disorder that has been described in terms of its underlying neurological characteristics, often measured via EEG. However, almost all previous research into the EEG correlates of depression has used a unitary model of Major Depressive Disorder (MDD), whereas there is strong evidence that MDD is heterogeneous in its symptomatology and neurological underpinnings. Methods: To investigate the EEG signatures of four subtypes of depression defined according to the previous literature, the Zung Self-rating Depression Scale was administered to 54 male and 46 female volunteers (M age = 32.53 yr). EEG data were collected during an Eyes Closed condition and examined for differences in connectivity across brain networks in the alpha- and beta-bands. Results: The results were examined in terms of the number and direction of connectivity differences between depressed and non-depressed participants within each depression subtype, the alpha- and beta-band connectivities, the regions of the brain that were connected, and the possible functional reasons why specific brain regions were differently connected for depressed and non-depressed participants within each MDD subtype. Conclusions: The results suggested some differences in the alpha- and beta-band connectivity between some of the MDD subtypes that are worth considering as representing different neurological signatures across the depression subtypes. These findings represent an initial challenge to defining depression as a unitary phenomenon, and suggest possible benefits for further research into the underlying neurological phenomena of depression subtypes. Full article

Background: Although semaglutide (Ozempic^®) is being prescribed off-label to individuals with obesity, some concerns have arisen regarding its use, particularly regarding the risk of thyroid and pancreatic disorders. Therefore, it is crucial to screen patients’ medical and family disease histories, as well as certain clinical parameters, before initiating this treatment for obesity or weight management. However, there is limited research investigating whether pretreatment assessment is adopted in clinical practice. Method: This is a single-center retrospective study involving adults who were prescribed semaglutide for obesity or weight management. Demographic data, comorbid conditions, semaglutide-related lab work, and disease history assessments, including pancreatitis, thyroid abnormalities, oculopathy, neuropathy, and any family history of thyroid cancer, were evaluated and documented prior to treatment initiation. Results: In total, 715 patients were included in the study, with an average age of 40.2 ± 12.0 years, and 49.5% of participants were male. The average weight and BMI prior to using semaglutide were 99.8 ± 18.1 kg and 36.3 ± 8.3 kg/m², respectively, with predominantly overweight and obese individuals (collectively 91.3%). Approximately 69% of patients had 3–5 complications, with a high prevalence of cardiovascular and metabolic diseases before using semaglutide. Although HbA1c, serum creatinine, TSH, T3, T4, triglycerides, HDL, LDL, total cholesterol, and total bilirubin were monitored prior to semaglutide use, none of the patients’ pancreatic lipase, amylase, or calcitonin levels were measured. Although it is important to investigate all personal and family disease histories, including thyroid abnormalities, thyroid cancer, pancreatitis, retinopathy, eye problems, and neuropathy prior to semaglutide initiation, checks were only conducted in 1.8% of patients, despite 98.6% having at least one of the diseases assessed pretreatment. Conclusions: The current pretreatment assessment approach for patients prescribed semaglutide for weight reduction is underdeveloped, particularly with regard to assessing the influence of disease history on semaglutide use. This predisposes patients to a risk of severe clinical outcomes, including thyroid cancer, pancreatitis, and retinopathy. Full article

The present study investigated the neuroprotective potential of the Murraya carbazole derivatives murrayanol, mahanimbine, murrayafoline A, and 9-methyl-9H-carbazole-2-carbaldehyde using in silico and in vitro assays. The pharmacokinetic properties and potential toxicity (ADME/T) of the carbazole derivatives were assessed to evaluate their prospects as up-and-coming drug candidates. Molecular docking was used to investigate the interactions of the compounds with Aβ (PDB: 1IYT, 2BEG, and 8EZE) and AChE receptors (PDB: 4EY7 and 1C2B). The results from the in vitro assays were used to validate and support the findings from the in silico assays. The compounds demonstrated significant inhibition of acetylcholinesterase (AChE), a key target in neurodegenerative disorders. Murrayanol and mahanimbine presented superior inhibitory activity (IC₅₀ ~0.2 μg/mL), outperforming the reference drug, galantamine. The inhibition mechanisms were competitive (murrayanol, murrayafoline A, and 9-methyl-9H-carbazole-2-carbaldehyde) and non-competitive (mahanimbine), supported by low Ki values and strong docking affinities. The compounds also proved effective in reducing Aβ fibrillization (murrayanol: 40.83 ± 0.30%; murrayafoline A: 33.60 ± 0.55%, mahanimbine: 27.68 ± 2.71%). These findings highlight Murraya carbazoles as promising scaffolds for multifunctional agents in AD therapy. Further optimization and mechanistic studies are warranted to advance their development into clinically relevant neuroprotective agents. Full article

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder, often leading to injuries and serious infections. In 2018, we established a multidisciplinary clinic (MDC) to provide structured, proactive care. We assessed the MDC’s impact on hospitalizations, surgeries, and infection rates. Methods: A retrospective study of genetically confirmed CIPA patients, treated from 2014 to 2024. Data from electronic medical records were compared between the pre-MDC (2014–2017) and post-MDC (2018–2024) periods. The core MDC team includes an infectious disease specialist, orthopedic surgeon, and nurses. The patients are stratified according to their carriage of resistant organisms and are managed using strict infection control measures. Follow-ups are scheduled routinely or as needed. Treatment is guided by clinical findings and culture results. Results: A total of 59 patients were included in the study. The baseline age did not differ significantly between the two periods. Hospitalization rates declined by 30.7% (from 57.7 to 40.0 per 1000 days), and clinic visits decreased by 42.9% (25.5 to 14.6). Overall surgical rates remained stable (2.8 to 2.7), with a 61.9% decrease in eye surgeries and a 130.5% increase in elective tooth extractions. Infection rates increased by 52% (from 6.6 to 10.1 per 1000 days). Conclusions: The implementation of the MDC bundle led to reduced hospitalizations, clinic visits, and eye surgeries, alongside the increased use of elective tooth extractions and culture testing. Closer monitoring and early infection management contributed to fewer severe complications. These findings support the value of structured, proactive multidisciplinary care in improving outcomes for children with CIPA. Full article

Background/Objectives: Haloperidol is a typical antipsychotic drug widely used for acute confusional state, psychotic disorders, agitation, delirium, and aggressive behavior. Methods: The toxicity of haloperidol was studied using zebrafish (ZF) embryos as a model organism. Dechorionated embryos were exposed to various concentrations of haloperidol (0.5–6.0 mg/L). The lethal dose concentration was estimated and was found to be 1.941 mg/L. Results: The impact of haloperidol was dose-dependent and significant from 0.25 mg/L. Haloperidol induced several deformities at sublethal doses, including abnormal somites, yolk sac edema, and skeletal deformities. Haloperidol significantly affected heart rate and blood flow and induced pericardial edema and hyperemia in a dose-dependent manner, suggesting its influence on heart development and function. Embryos exposed to haloperidol during their ontogenetic development had smaller body length and eye surface area than non-exposed ones in a dose-dependent manner. Conclusions: It was found that haloperidol significantly affects the behavior of the experimental organisms in terms of mobility, reflexes to stimuli, and adaptation to dark/light conditions. Full article

Eye movements (EMs) offer valuable insights into cognitive and perceptual processes, serving as potential biomarkers for disordered thinking. This study explores the relationship between EM indices and perception and thinking problems in the Rorschach Performance Assessment System (R-PAS). Sixty non-clinical participants underwent eye-tracking while completing the Rorschach test, focusing on variables from the Perception and Thinking Problems Domain (e.g., WSumCog, SevCog, FQo%). The results reveal that increased cognitive disturbances were associated with greater exploratory activity but reduced processing efficiency. Regression analyses highlighted the strong predictive role of cognitive variables (e.g., WSumCog) over perceptual ones (e.g., FQo%). Minimal overlap was observed between performance-based (R-PAS) and self-report measures (BSI), underscoring the need for multi-method approaches. The findings suggest that EM patterns could serve as biomarkers for early detection and intervention, offering a foundation for future research on psychotic-spectrum processes in clinical and non-clinical populations. Full article

Gene therapy has emerged as a promising treatment for several eye diseases since it may restore vision and stop blindness. Many eye diseases, including retinitis pigmentosa and macular degeneration, have historically been rather difficult to treat and usually cause permanent vision loss. However, thanks to advances in gene therapy, many disorders can now be effectively targeted and genetically changed, providing a safer, more direct, maybe even curative approach. By introducing, altering, or repairing specific genes inside the eye, gene therapy seeks to fix the defective genes causing these disorders, thereby improving general eye health and visual ability. Voretigene neparvovec is one FDA- and EMA-approved treatment for RPE65 mutations. Retinitis pigmentosa, age-related macular degeneration, X-linked retinoschisis, choroideremia, and Stargardt disease are among the several eye disorders still under clinical trials, and experimental treatment is in progress. As research on gene therapy develops, it opens the path for groundbreaking treatments that could fundamentally change the ophthalmic care scene. Full article

Autism Spectrum Disorder (ASD) encompasses various neurological disorders with symptoms varying by age, development, genetics, and other factors. Core symptoms include decreased pain sensitivity, difficulty sustaining eye contact, incorrect auditory responses, and social engagement issues. Diagnosing ASD poses challenges as signs can appear at early stages of life, leading to delayed diagnoses. Traditional diagnosis relies mainly on clinical observation, which is a subjective and time-consuming approach. However, AI-driven techniques, primarily those within machine learning and deep learning, are becoming increasingly prevalent for the efficient and objective detection and classification of ASD. In this work, we review and discuss the most relevant related literature between January 2016 and May 2024 by focusing on ASD detection or classification using diverse technologies, including magnetic resonance imaging, facial images, questionnaires, electroencephalogram, and eye tracking data. Our analysis encompasses works from major research repositories, including WoS, PubMed, Scopus, and IEEE. We discuss rehabilitation techniques, the structure of public and private datasets, and the challenges of automated ASD detection, classification, and therapy by highlighting emerging trends, gaps, and future research directions. Among the most interesting findings of this review are the relevance of questionnaires and genetics in the early detection of ASD, as well as the prevalence of datasets that are biased toward specific genders, ethnicities, or geographic locations, restricting their applicability. This document serves as a comprehensive resource for researchers, clinicians, and stakeholders, promoting a deeper understanding and advancement of AI applications in the evaluation and management of ASD. Full article

Background/Objectives: Access to specialized care for patients with cognitive impairment in remote areas is often limited. Despite the increasing adoption of telemedicine, standardized guidelines have not yet been specified. This study aimed to develop a comprehensive protocol for the specialized neurological, neuropsychological, and neuropsychiatric assessment of patients with cognitive disorders in remote areas through telemedicine. Methods: We analyzed data from (i) a comprehensive literature review of the existing recommendations, reliability studies, and telemedicine models for cognitive disorders, (ii) insights from a three-year experience of a specialized telemedicine outpatient clinic for cognitive movement disorders in Greece, and (iii) suggestions coming from dementia specialists experienced in telemedicine (neurologists, neuropsychologists, psychiatrists) who took part in three focus groups. A critical synthesis of the findings was performed in the end. Results: The final protocol included: technical and organizational requirements (e.g., a high-resolution screen and a camera with zoom, room dimensions adequate for gait assessment, a noise-canceling microphone); medical history; neurological, neuropsychiatric, and neuropsychological assessment adapted to videoconferencing; ethical–legal aspects (e.g., data security, privacy, informed consent); clinician–patient interaction (e.g., empathy, eye contact); diagnostic work-up; linkage to other services (e.g., tele-psychoeducation, caregiver support); and instructions for treatment and follow-up. Conclusions: This protocol is expected to serve as an example of good clinical practice and a source for official telemedicine guidelines for cognitive disorders. Ultimate outcomes include the potential enhanced access to specialized care, minimized financial and logistical costs, and the provision of a standardized, effective model for the remote diagnosis, treatment, and follow-up. This model could be applied not only in Greece, but also in other countries with similar healthcare systems and populations living in remote, difficult-to-access areas. Full article

Background/Objectives: Rett syndrome (RTT) is a rare neurodevelopmental disorder that affects movement and communication skills primarily in females. This study aimed to synthesize the research from the last two decades regarding the verbal and nonverbal communication abilities, assessment procedures, and intervention approaches for individuals with RTT. Methods: A structured literature search was conducted using the Embase, Scopus, and PubMed databases. Fifty-seven studies were selected and analyzed based on inclusion criteria. The data were categorized into four domains (verbal communication skills, nonverbal communication skills, assessment procedures, and intervention approaches). Results: The findings indicated a wide variety of communicative behaviors across the RTT population, including prelinguistic signals, regression in verbal output, and preserved nonverbal communicative intent. Moreover, the results highlighted the importance of tailored assessments (Inventory of Potential Communicative Acts, eye tracking tools, and Augmentative and Alternative Communication) to facilitate functional communication. The individualized intervention approaches were found to be the most effective in improving communicative participation. Conclusions: The current review provides an overview of the current evidence with an emphasis on the need for personalized and evidence-based clinical practices. Additionally, it provided guidance for professionals, clinicians, and researchers seeking to improve the quality of life for individuals with RTT. Full article