Search Results (4,505)

Schimmelpenning syndrome, or epidermal nevus syndrome, is a rare, neurocutaneous disorder characterized by skin abnormalities, such as epidermal nevi, and involvement of the central nervous system, including intracranial tumors. There are only a few reported cases of intracranial tumors associated with Schimmelpenning syndrome. In most cases, a single nucleotide mutation in the RAS family proto-oncogenes, like HRAS or KRAS genes, can result in the genetic mosaicism that is responsible for the clinical manifestations of this syndrome. The authors present a case report of a woman with Schimmelpenning syndrome who sought medical help with complaints of progressive headache and dizziness. The radiological and histopathological findings indicated an astrocytoma, IDH-mutant (WHO grade 3). The molecular analysis revealed pathogenic changes in the oncogenic HRAS gene with a prevalence of 31%. The patient underwent surgical treatment and had no neurological sequelae. By presenting such a clinical case, attention is paid to the interrelationship between genetic syndromes and intracranial tumors. Full article

Growth-factor-induced cell signaling plays a crucial role in development; however, negative regulation of this signaling pathway is important for sustaining homeostasis and preventing diseases. SPROUTY2 (SPRY2) is a potent negative regulator of receptor tyrosine kinase (RTK) signaling that binds to GRB2 during RTK activation and inhibits the GRB2-SOS complex, which inhibits RAS activation and attenuates the downstream RAS/ERK signaling cascade. SPRY was formerly discovered in Drosophila but was later discovered in higher eukaryotes and was found to be connected to many developmental abnormalities. In several experimental scenarios, increased SPRY2 protein levels have been observed to be involved in both peripheral and central nervous system neuronal regeneration and degeneration. SPRY2 is a desirable pharmaceutical target for improving intracellular signaling activity, particularly in the RAS/ERK pathway, in targeted cells because of its increased expression under pathological conditions. However, the role of SPRY2 in brain-derived neurotrophic factor (BDNF) signaling, a major signaling pathway involved in nervous system development, has not been well studied yet. Recent research using a variety of small-animal models suggests that SPRY2 has substantial therapeutic promise for treating a range of neurological conditions. This is explained by its function as an intracellular ERK signaling pathway inhibitor, which is connected to a variety of neuronal activities. By modifying this route, SPRY2 may open the door to novel therapeutic approaches for these difficult-to-treat illnesses. This review integrates an in-depth analysis of the structure of SPRY2, the role of its major interactive partners in RTK signaling cascades, and their possible mechanisms of action. Furthermore, this review highlights the possible role of SPRY2 in neurodevelopmental disorders, as well as its future therapeutic implications. Full article

Neurodevelopment is a highly intricate process, and early detection of abnormalities is critical for optimizing outcomes through timely intervention. Accurate and cost-effective diagnostic methods for neurological disorders, particularly in infants, remain a significant challenge due to the heterogeneity of data and the variability in neurodevelopmental conditions. This study recruited twelve parent–infant pairs, with infants aged 3 to 12 months. Approximately 25 minutes of 2D video footage was captured, documenting natural play interactions between the infants and toys. We developed a novel, open-source method to classify and analyse infant movement patterns using deep learning techniques, specifically employing a transformer-based fusion model that integrates multiple video features within a unified deep neural network. This approach significantly outperforms traditional methods reliant on individual video features, achieving an accuracy of over 90%. Furthermore, a sensitivity analysis revealed that the pose estimation contributed far less to the model’s output than the pre-trained transformer and convolutional neural network (CNN) components, providing key insights into the relative importance of different feature sets. By providing a more robust, accurate and low-cost analysis of movement patterns, our work aims to enhance the early detection and potential prediction of neurodevelopmental delays, whilst providing insight into the functioning of the transformer-based fusion models of diverse video features. Full article

Background and Objectives: Migraine is a chronic neurological disorder affecting approximately 14% of the global population. Beyond physical pain, migraines significantly impact individuals’ quality of life, influencing education, employment, and income levels. Topiramate, a second-generation antiepileptic medication, has demonstrated notable efficacy in reducing the occurrence of chronic migraine. Over the past three decades, extensive research has implicated the neuropeptide calcitonin gene-related peptide (CGRP) in migraine pathogenesis. Erenumab, the first FDA-approved CGRP inhibitor, received approval in 2018. This study aims to compare the clinical efficacy of Erenumab and Topiramate for migraine prevention. Materials and Methods: We conducted a retrospective cohort study of adults with episodic or chronic migraine over a 12-month period, comparing Erenumab (n = 52) and Topiramate (n = 56). Outcomes assessed included changes in the Migraine Disability Assessment (MIDAS) scores from baseline over the last three months of treatment and the proportion of patients achieving a ≥50% reduction in MIDAS scores by the end of the study. Results: The Erenumab group showed significant improvement, with nearly 79% of patients achieving a 50% reduction in their MIDAS score, with a mean reduction of 3.76. Notably, only two patients (3.8.5) discontinued treatment due to adverse events. In contrast, the Topiramate group had over 15% of patients achieve a 50% reduction in MIDAS scores, with a mean reduction of 5.89, and a had discontinuation rate of 14.2% due to adverse events. Conclusions: Both Topiramate and Erenumab are effective for migraine prevention. However, Topiramate has lower tolerability and more side effects, while Erenumab offers better tolerability and safety at a higher cost. Treatment decisions should be individualized based on patient needs, efficacy, safety, and cost considerations. Full article

Background: Hypertension is prevalent in the pediatric population, with estimated rates between 2% and 5%, and its incidence is rising globally. This study offers a single-center analysis of hypertension in children. Methods: a retrospective chart review was conducted involving children aged 1 month to 13 years diagnosed with hypertension. Results: The study included a total of 129 children. Secondary hypertension was identified in 103 patients (79.8%), while primary hypertension was noted in 26 patients (20.2%). Primary hypertension was more common among pre-teen children (50.0%), whereas secondary hypertension predominantly affected those aged 1 to 5 years. Renal parenchymal disease emerged as the most frequent etiology of secondary hypertension, followed by endocrine disorders and vascular issues. No significant correlation was found between hypertension and obesity. The primary complications associated with hypertension in these children were cardiovascular, followed by neurological issues. A small proportion (14.7%) managed their hypertension solely through lifestyle modifications, while the majority required additional antihypertensive medications. At the final follow-up, 50% of the children demonstrated improved blood pressure readings. Conclusion: The findings indicate a higher prevalence of secondary hypertension compared to primary hypertension among the studied population. This study underscores the necessity for heightened awareness among pediatricians regarding the early identification and management of hypertension. Larger population-based studies are warranted to further investigate the prevalence, causes, and outcomes of hypertension in this region. Full article

Cannabis sativa is known for producing over 120 distinct phytocannabinoids, with Δ⁹-tetrahydrocannabinol (Δ⁹-THC) and cannabidiol (CBD) being the most prominent, primarily in their acidic forms. Beyond Δ⁹-THC and CBD, a wide array of lesser-known phytocannabinoids, along with terpenes, flavonoids, and alkaloids, demonstrate diverse pharmacological activities, interacting with the endocannabinoid system (eCB) and other biological pathways. These compounds, characterized by phenolic structures and hydroxyl groups, possess lipophilic properties, allowing them to cross the blood–brain barrier (BBB) effectively. Notably, their antioxidant, anti-inflammatory, and neuro-modulatory effects position them as promising agents in treating neurodegenerative disorders. While research has extensively examined the neuropsychiatric and neuroprotective effects of Δ⁹-THC, other minor phytocannabinoids remain underexplored. Due to the well-established neuroprotective potential of CBD, there is growing interest in the therapeutic benefits of non-psychotropic minor phytocannabinoids (NMPs) in brain disorders. This review highlights the emerging research on these lesser-known compounds and their neuroprotective potential. It offers insights into their therapeutic applications across various major neurological conditions. Full article

Deleterious variations in STXBP1 are responsible for early infantile epileptic encephalopathy type 4 (EIEE4, OMIM # 612164) because of its dysfunction in the central nervous system. The clinical spectrum of the neurodevelopmental delays associated with STXBP1 aberrations is collectively defined as STXBP1 encephalopathy (STXBP1-E), the conspicuous features of which are highlighted by early-onset epileptic seizures without structural brain anomalies. A girl was first diagnosed with unexplained disorders of movement and cognition, which later developed into STXBP1-E with unexpected leukoaraiosis and late onset of seizures. Genetic screening and molecular tests alongside neurological examinations were employed to investigate the genetic etiology and establish the diagnosis. A heterozygous mutation of c.37+2dupT at the STXBP1 splice site was identified as the pathogenic cause in the affected girl. The de novo mutation (DNM) did not result in any truncated proteins but immediately triggered mRNA degradation by nonsense-mediated mRNA decay (NMD), which led to the haploinsufficiency of STXBP1. The patient showed atypical phenotypes characterized by hypomyelinating leukodystrophy, and late onset of epileptic seizures, which had never previously been delineated in STXBP1-E. These findings strongly indicated that the haploinsufficiency of STXBP1 could also exhibit divergent clinical phenotypes because of the genetic heterogeneity in the subset of encephalopathies. Full article

Alzheimer’s disease is a neurodegenerative condition primarily attributed to environmental factors, abnormal protein deposits, immune system dysregulation, and the consequential death of nerve cells in the brain. On the other hand, Parkinson’s disease manifests as a neurological disorder featuring primary motor, secondary motor, and non-motor symptoms, accompanied by the rapid demise of cells in the brain’s dopamine-producing region. Utilizing brain images for accurate diagnosis and treatment is integral to addressing both conditions. This study harnessed the power of artificial intelligence for classification processes, employing state-of-the-art transformer models such as Swin transformer, vision transformer (ViT), and bidirectional encoder representation from image transformers (BEiT). The investigation utilized an open-source dataset comprising 450 images, evenly distributed among healthy, Alzheimer’s, and Parkinson’s classes. The dataset was meticulously divided, with 80% allocated to the training set (390 images) and 20% to the validation set (90 images). Impressively, the classification accuracy surpassed 80%, showcasing the efficacy of transformer-based models in disease detection. Looking ahead, this study recommends delving into hybrid and ensemble models and leveraging the strengths of multiple transformer-based deep learning architectures. Beyond contributing crucial insights at the intersection of artificial intelligence and neurology, this research emphasizes the transformative potential of advanced models for enhancing diagnostic precision and treatment strategies in Alzheimer’s and Parkinson’s diseases. It signifies a significant step towards integrating cutting-edge technology into mainstream medical practices for improved patient outcomes. Full article

Owing to its promiscuous roles, poly (ADP-ribose) polymerase-1 (PARP-1) is involved in various neurological disorders including several retinal pathologies. Diabetic retinopathy (DR) is the most common microvascular complication of diabetes mellitus affecting the retina. In the present review, we highlight the importance of PARP-1 participation in pathophysiology of DR and discuss promising potential inhibitors for treatment. A high glucose level enhances PARP-1 expression; PARP inhibitors have gained attention due to their potential therapeutic effects in DR. They target different checkpoints (blocking nuclear transcription factor (NF-κB) activation; oxidative stress protection, influence on vascular endothelial growth factor (VEGF) expression, impacting neovascularization). Nowadays, there are several improved clinical PARP-1 inhibitors with different allosteric effects. Combining PARP-1 inhibitors with other compounds is another promising option in DR treatments. Besides pharmacological inhibition, genetic disruption of the PARP-1 gene is another approach in PARP-1-initiated therapies. In terms of future treatments, the limitations of single-target approaches shift the focus onto combined therapies. We emphasize the importance of multi-targeted therapies, which could be effective not only in DR, but also in other ischemic conditions. Full article

This case report delves into the case of a 56-year-old female patient presenting with progressive cephalalgia syndrome, nausea, vomiting, and gait disorders, diagnosed with a high-grade thalamic glioma. Glioma is the most common form of central nervous system (CNS) neoplasm that originates from glial cells. Gliomas are diffusely infiltrative tumors that affect the surrounding brain tissue. Glioblastoma is the most malignant type, while pilocytic astrocytomas are the least malignant brain tumors. In the past, these diffuse gliomas were classified into different subtypes and grades based on histopathologies such as a diffuse astrocytoma, oligodendrogliomas, or mixed gliomas/oligoastrocytomas. Currently, gliomas are classified based on molecular and genetic markers. After the gross total resection, a postoperative brain CT scan was conducted, which confirmed the quasi-complete resection of the tumor. The successful gross total resection of the tumor in this case, coupled with significant neurological improvement postoperatively, illustrates the potential benefits of aggressive surgical management for thalamic gliomas. This report advocates for further research to assess the efficacy of such interventions in malignant cases and to establish standardized treatment protocols, considering the heterogeneity in prognostic outcomes and the advancements in molecular diagnostics that offer deeper insights into glioma oncogenesis and progression. Full article

Automatic assessment of brain regions in an MR image has emerged as a pivotal tool in advancing diagnosis and continual monitoring of neurological disorders through different phases of life. Nevertheless, current solutions often exhibit specificity to particular age groups, thereby constraining their utility in observing brain development from infancy to late adulthood. In our research, we introduce a novel approach for segmenting and classifying neonatal brain images. Our methodology capitalizes on minimum spanning tree (MST) segmentation employing the Manhattan distance, complemented by a shrunken centroid classifier empowered by the Brier score. This fusion enhances the accuracy of tissue classification, effectively addressing the complexities inherent in age-specific segmentation. Moreover, we propose a novel threshold estimation method utilizing the Brier score, further refining the classification process. The proposed approach yields a competitive Dice similarity index of 0.88 and a Jaccard index of 0.95. This approach marks a significant step toward neonatal brain tissue segmentation, showcasing the efficacy of our proposed methodology in comparison to the latest cutting-edge methods. Full article

Objective: The aim was to evaluate the value of otolith-associated protein otoconin-90 (OC90) and otolin-1 in the pathogenesis research and clinical treatment of benign paroxysmal positional vertigo (BPPV). Material and Method: The study included 50 patients with BPPV admitted to neurology and otorhinolaryngology departments and 30 healthy subjects with no history of dizziness as a control group. Results: BPPV and controls were similar in terms of gender and age. Otolin-1 concentration was significantly greater in the BPPV group than in the controls (710.44 [584.35–837.39] vs 280.45 [212.7–419.61]; p < 0.001). No statistical significance was found, although OC90 was higher in the BPPV group than in the controls. There was a strong positive correlation between otolin-1 and OC90, a moderate negative correlation between otolin-1 and vitamin D, and a strong negative correlation between OC90 and vitamin D in the BPPV patient group. Otolin-1 had high specificity and AUC values for BPPV (AUC: 0.933; 95% CI: 0.881–0.986, 79.2% sensitivity, 100% specificity with a cutoff greater than 525). Conclusions: High serum concentrations of otolin-1 were associated with an increased risk of BPPV, but high concentrations of OC90 were not. Serum concentrations of otolin-1 can potentially be used as a biomarker for the acute onset of inner ear disorders due to the significant increase in patients with BPPV. Vitamin D has high specificity and sensitivity in patients with BPPV. It also provides evidence that BPPV patients with vitamin D deficiency may improve their symptoms with replacement therapy. More large-scale prospective studies are required to confirm these associations and clarify the exact mechanisms. Full article

Background: The aging population is associated with a net increase in the incidence and prevalence of chronic-degenerative diseases, particularly neurocognitive disorders. Therefore, the identification of preventative strategies to restrain the burden of such chronic conditions is of key relevance. Red wine and its components have accumulated evidence regarding their positive effects in terms of neurological pathologies associated with neurocognitive symptoms. Methods: Based on this background, the present narrative review aims to summarize the state-of-the-art evidence on the effects of red wine and its components on neurocognitive disorders in both preclinical and clinical settings. Results: The main findings highlight a protective effect of wine polyphenols present in red wine on dementia in different preclinical models of cognitive decline. The current translational clinical evidence remains uncertain, especially considering the risk-to-benefit ratio of alcohol consumption on brain health. Conclusions: Given the overall health risks associated with red wine consumption and consistent with the prevailing guidelines in the literature, there is insufficient evidence to support light-to-moderate red wine consumption as an effective strategy for preventing these diseases. However, the largely preclinical findings on polyphenols derived from red wine remain of significant interest in this context. Full article

The practise of geophagy is common amongst women of childbearing age from different geographic locations, including South Africa, regardless of their social and economic status such as their level of education, race, marital status, income or occupation. This study aimed to examine the women of childbearing age in Tshwane District, Gauteng Province, South Africa. An experimental study was conducted at the laboratory to examine the chemical composition of clay soil ingested by geophagic women of childbearing age. Thirty-nine clay soil samples were collected from study participants attending antenatal care services and family planning at public healthcare facilities of Tshwane District, Gauteng Province, and subjected to geochemical analysis. The concentrations of vanadium, manganese, chromium, and barium were detected in quantities exceeding 100 mg/kg in almost all samples. Cadmium, mercury and silver were detected in low concentrations below 1 mg/kg in all samples. The practice of geophagy amongst women of childbearing age has been reported to be associated with detrimental health outcomes and risks such as iron deficiency anaemia, constipation, shortness of breath, maternal and childhood mortalities and morbidities, neurological and central nervous system disorder, death, appendicitis, cancers, teratogenic risks, and ulcers. The chemical composition of clay soil eaten by geophagic women of childbearing age contains potentially harmful substances, thus the practise of geophagy is toxic and should be discouraged to protect public health. Full article

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Investigations of gut microbiota (GM) play an important role in deciphering disease severity and symptoms. Overall, we stratified 70 ASD patients by neuropsychological assessment, based on Calibrated Severity Scores (CSSs) of the Autism Diagnostic Observation Schedule-Second edition (ADOS-2), Child Behavior Checklist (CBCL) and intelligent quotient/developmental quotient (IQ/DQ) parameters. Hence, metataxonomy and PICRUSt-based KEGG predictions of fecal GM were assessed for each clinical subset. Here, 60% of ASD patients showed mild to moderate autism, while the remaining 40% showed severe symptoms; 23% showed no clinical symptoms, 21% had a risk of behavior problems and 56% had clinical symptoms based on the CBCL, which assesses internalizing problems; further, 52% had no clinical symptoms, 21% showed risk, and 26% had clinical symptoms classified by CBCL externalizing problems. Considering the total CBCL index, 34% showed no clinical symptoms, 13% showed risk, and 52% had clinical symptoms. Here, 70% of ASD patients showed cognitive impairment/developmental delay (CI/DD). The GM of ASDs with severe autism was characterized by an increase in Veillonella, a decrease in Monoglobus pectinilyticus and a higher microbial dysbiosis index (MDI) when compared to mild-moderate ASDs. Patients at risk for behavior problems and showing clinical symptoms were characterized by a GM with an increase of Clostridium, Eggerthella, Blautia, Intestinibacter, Coprococcus, Ruminococcus, Onthenecus and Bariatricus, respectively. Peptidoglycan biosynthesis and biofilm formation KEGGs characterized patients with clinical symptoms, while potential microbiota-activated PPAR-γ-signaling was seen in CI/DD patients. This evidence derived from GM profiling may be used to further improve ASD understanding, leasing to a better comprehension of the neurological phenotype. Full article