Prevalence Of Neurological Disorders Research Articles

The role of digestive system diseases in cerebrovascular disease: a comprehensive Mendelian randomization study

BackgroundCerebrovascular disease, among the most prevalent neurological disorders, poses a substantial threat to human health with its elevated mortality and disability rates, placing considerable strain on healthcare systems. Although several studies in recent years have suggested a potential association between digestive system diseases and cerebrovascular diseases, the findings remain inconsistent.MethodsGenome-wide association study (GWAS) summary data for 12 digestive diseases and cerebrovascular diseases were used to conduct Mendelian randomization (MR) analysis. In this investigation, we endeavored to elucidate the causal relationship between digestive system diseases and cerebrovascular diseases. Employing a comprehensive approach, including two-sample MR (TSMR), multivariate MR (MVMR), and two-step MR analysis, we leveraged summary statistics data obtained from published GWAS. The primary analysis method employed was inverse variance weighted (IVW), with MR-Egger and weighted median (WM) as secondary methods. Sensitivity analysis included heterogeneity testing, horizontal multivariate testing, MR-PRESSO, and a “leave-one-out” method. Additionally, the F-statistic was utilized to assess the strength of instrumental variables, ensuring robust results.ResultsIn the TSMR analysis, this study found a significant causal relationship between genetically predicted gastroesophageal reflux disease (GERD) and any stroke (AS), any ischemic stroke (AIS), large-artery atherosclerotic stroke (LAS), intracranial aneurysm (IA), and subarachnoid hemorrhage (SAH). In MVMR analysis, this study found that even after adjusting for systolic blood pressure (SBP), body mass index (BMI) and type 2 diabetes (T2D), the causal relationship remains exist. In the two-step MR mediation analysis, it was found that BMI, SBP and T2D play mediating role in the causal relationship between GERD and cerebrovascular diseases.ConclusionThis study indicates a clear positive causal relationship between GERD and cerebrovascular diseases, and this causal association remains significant even after adjusting for BMI, SBP and T2D. The mediation MR analysis suggests that BMI, SBP and T2D may mediate the causal relationship between GERD and the risk of cerebrovascular diseases.

The Use of Head-Mounted Display Systems for Upper Limb Kinematic Analysis in Post-Stroke Patients: A Perspective Review on Benefits, Challenges and Other Solutions

In recent years, there has been a notable increase in the clinical adoption of instrumental upper limb kinematic assessment. This trend aligns with the rising prevalence of cerebrovascular impairments, one of the most prevalent neurological disorders. Indeed, there is a growing need for more objective outcomes to facilitate tailored rehabilitation interventions following stroke. Emerging technologies, like head-mounted virtual reality (HMD-VR) platforms, have responded to this demand by integrating diverse tracking methodologies. Specifically, HMD-VR technology enables the comprehensive tracking of body posture, encompassing hand position and gesture, facilitated either through specific tracker placements or via integrated cameras coupled with sophisticated computer graphics algorithms embedded within the helmet. This review aims to present the state-of-the-art applications of HMD-VR platforms for kinematic analysis of the upper limb in post-stroke patients, comparing them with conventional tracking systems. Additionally, we address the potential benefits and challenges associated with these platforms. These systems might represent a promising avenue for safe, cost-effective, and portable objective motor assessment within the field of neurorehabilitation, although other systems, including robots, should be taken into consideration.

Psychiatric implications of anti-seizure medications in epileptic population

Background and objectiveEpilepsy is a prevalent neurological disorder that affects a significant number of individuals globally. This condition is associated with a high occurrence of psychiatric comorbidities, which can significantly affect the quality of life of individuals affected. The aim of this study was to investigate the association between antiseizure therapies and the likelihood of psychiatric comorbidities in individuals with epilepsy.MethodologyData for this study was gathered from the Neurology referral center in Islamabad, Pakistan. A standardized questionnaire was utilized to gather data from 120 individuals diagnosed with epilepsy. The survey consisted of inquiries regarding the management of seizures, the utilization of anti-seizure medications, and the presence of psychiatric comorbidities. The data was analyzed using the Statistical Package for the Social Sciences (SPSS).ResultsThe findings indicated that individuals who were using multiple antiseizure medications had a notably higher likelihood of having psychiatric comorbidities in comparison to those who were on mono therapy (p = 0.010). suggests that patients with unsuccessful seizure control are more probable to have psychiatric comorbidities as compared to those with good seizure control (p = 0.029).ConclusionTo conclude poor seizure control and poly therapy are associated with increased risk of psychiatric comorbidities.

Acute treatment of migraine in children aged 6−11: Real‐world analysis of remote electrical neuromodulation (REN)

AbstractObjectivesMigraine is a prevalent neurological disorder severely impacting children and adolescents, yet only one pharmacological treatment is approved for ages 6−12 years. Remote electrical neuromodulation (REN) is a nonpharmacological, prescribed, wearable device cleared by the Food and Drug Administration for acute and/or preventive treatment of migraine with or without aura in patients 12 years and older. This study evaluates REN's safety and efficacy in ages 6−11 years.MethodsProspective acute treatment of migraine data were collected through the REN device (Nerivio) smartphone application. Endpoints were device safety (primary); consistent treatment efficacy (headache pain, functional disability, associated migraine symptoms), and REN‐medication combinations 2 h post‐treatment.ResultsChildren (n = 293), median age 11 years (interquartile range = 9−11), 73.7% girls, conducted 5493 REN treatments. No adverse events were reported. Efficacy in at least 50% of REN treatments was calculated from all patients who voluntarily reported pain levels, symptoms, and/or disability at treatment onset and at 2 h post‐treatment, with 72.2% (13/18) of patients reporting pain relief, 36.0% (9/25) pain freedom, 83.3% (15/18) functional disability relief, and 38.9% (7/18) functional disability freedom. Migraine‐associated symptoms disappeared in at least 50% of REN treatments in 70.0% (7/10) of patients for nausea/vomiting, 50.0% (4/8) phonophobia, and 22.2% (2/9) photophobia; 63.6% (7/11) reported freedom from at least one associated symptom. REN was used as a standalone treatment, with over‐the‐counter medications, and with prescribed headache medications in 45.4%, 34.4%, and 20.9% of treatments, respectively.InterpretationREN may serve as a safe and efficacious acute treatment of migraine for children. Providers and families seeking a safe, effective, pill‐ and needle‐free treatment option for children suffering from migraine may consider REN.

Strategies for Treating Acute Migraines and Identifying Triggers. Literature review

Introduction Migraine, a prevalent neurological disorder affecting a substantial portion of the global population, poses a significant burden on individuals' overall quality of life. While the exact pathophysiological mechanisms underlying migraine headache attacks remain elusive, the involvement of trigeminal pathway activation is well-documented. A multitude of factors, collectively termed triggers, have been identified as capable of precipitating migraine episodes, ranging from dietary components to environmental stimuli such as bright lights and weather fluctuations. Migraine headaches typically manifest as throbbing pain localized predominantly on one side of the head and are often accompanied by a constellation of additional symptoms including photophobia, phonophobia, and nausea. The management of migraine involves a diverse array of therapeutic modalities tailored to the specific characteristics of the pain experienced. These may include the administration of non-steroidal anti-inflammatory drugs (NSAIDs), paracetamol, triptans, and antiemetics, among others. This study endeavors to explore the most prevalent triggers implicated in migraine onset, as well as contemporary treatment strategies, with an emphasis on incorporating the latest research findings and therapeutic advancements in this evolving field. Aim of the study This review aims to identify symptoms, triggers of acute migraine and solutions in its treatment process, including latest developments. Material and method This article presents the current state of knowledge about acute migraine, triggers and treatment options in various scientific articles. Publications describing acute migraine attacks and treatments including the most recent reports in the field were reviewed using the PubMed platform. The search included the keywords ‘migraine, 'migraine triggers', 'triptans', 'migraine with aura'.

Human T-cell activation withToxoplasma gondiiantigens loaded in maltodextrin nanoparticles

Toxoplasmosis is the most prevalent parasitic zoonosis worldwide, causing ocular and neurological diseases. No vaccine has been approved for human use. We evaluated the response of peripheral blood mononuclear cells (PBMCs) to a novel construct ofToxoplasma gondiitotal antigen in maltodextrin nanoparticles (NP/TE) in individuals with varying infectious statuses (uninfected, chronic asymptomatic, or ocular toxoplasmosis). We analyzed the concentration of IFN-γ after NP/TE ex vivo stimulation using ELISA and the immunophenotypes of CD4+and CD8+cell populations using flow cytometry. In addition, serotyping of individuals with toxoplasmosis was performed by ELISA using GRA6-derived polypeptides. Low doses of NP/TE stimulation (0.9 μg NP/0.3 μg TE) achieved IFN-γ–specific production in previously exposed human PBMCs without significant differences in the infecting serotype. Increased IFN-γ expression in CD4+effector memory cell subsets was found in patients with ocular toxoplasmosis with NP/TE but not with TE alone. This is the first study to show how T-cell subsets respond to ex vivo stimulation with a vaccine candidate for human toxoplasmosis, providing crucial insights for future clinical trials.

Abstract PO1-11-10: Use of a standardized tool for the evaluation and treatment of cancer related cognitive impairment (chemo-brain) among breast cancer patients

Abstract There is a steep linear increase in patients surviving a cancer diagnosis. Clinical solutions that address the high prevalence of cancer-related treatment effects (CRTE) are urgently needed. A stark example of this need is the dearth of screening and treatment programs for cancer related cognitive impairment (CRCI) (colloquially called “chemo-brain”). Up to 75% of cancer patients report neurocognitive changes that leave patients unable to cope with the expectations of employers, colleagues, families, and friends. The prevalence of neurological disorders is 275% higher among adult cancer patients, when compared to an adult cancer-free population. For many adolescent and young adult cancer patients, the onset of CRCI occurs during "cognitive prime time"; a time when individuals are pursuing education, careers, and raising families. To address a gap in CRTE we have implemented a virtual multi-disciplinary intervention to measure and treat CRCI. Our CRCI intervention follows National Comprehensive Cancer Network and American Society of Clinical Oncology (ASCO) guidelines for CRCI. These guidelines indicate a multi-disciplinary approach with emphasis on increasing physical activity levels, cognitive-behavioral therapy, memory adaptive training, mood management, and sleep optimization. Our approach also follows recent ASCO guidelines for nutrition counseling. Our CRCI program utilizes medical oncologists, physician assistants, mental health therapists, registered dietitians, and occupational therapists. A nationally validated patient reported outcome (PRO) measurement, analysis, and reporting platform informs clinical treatment pathways, monitors patient progress, guides clinical decision making, and improves patient/provider communication. Using health status measures for CRCI, and following American Cancer Society and ASCO guidelines, patients are risk-stratified into three personalized cancer survivor care pathways: 1) low-complexity patients; 2) medium-complexity patients; and 3) high-complexity patients. Low-complexity patients baseline PROs score in the normal range, medium-complexity patients are those who score below the norm (moderate to large effect size difference from normal), and high-complexity patients are those who score well below the norm (greater than larger effect size difference from normal). Low-complexity patients are enrolled into a self-management and continuation of care program. Medium-complexity patients are enrolled into a shared care program. High-complexity patients are enrolled into an acute care program. All three clinical pathways include continued risk-factor vital-sign surveillance. Nearly 100% (99%) of patients who enroll in our primary cancer survivor care program complete our PRO baseline (N=80). From a convenient sample of breast cancer patients (N=42), provisional results of patient-specific segmentation analyses reveal a nearly perfect bell-shaped curve, with 51% of the population classified within the definition of medium-complexity and even split of outliers (high-complexity 24% and low-complexity 24%). Additionally, of all patients in our primary cancer survivor care program who completed at least three measurement time points for health status measures of cognitive impartment (N=38), 92% had a positive experience, 71% had a clinically significant improvement in cognitive health, 21% had a no change in cognitive status, and only 8% had a decline in cognitive health. If these data, and PRO implementation approach hold true, this program could be scaled to national and international cancer survivor population suffering from CRCI. Citation Format: John Librett, Mark Kosinski, Gregory Litton. Use of a standardized tool for the evaluation and treatment of cancer related cognitive impairment (chemo-brain) among breast cancer patients [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-11-10.

Clinical and sociodemographic characteristics of patients with epilepsy attended at a regional reference psychiatric emergency unit

ObjectiveEpilepsy is one of the most prevalent chronic neurological diseases, presenting a high frequency of psychiatric disorders (PD). This study sought to evaluate the clinical and sociodemographic profile of patients with epilepsy (PWE) attended at a regional reference psychiatric emergency unit. MethodsA retrospective, cross-sectional, and descriptive observational study was conducted utilizing a patient record database of individuals with epilepsy who were attended in a regional reference psychiatric emergency unit between January 2018 and August 2022. ResultsOut of the 31,800 psychiatric emergency visits, 260 (0.8 %) were of patients with epilepsy (ICD-10: G40). The majority were males (63.5 %) with a mean age of 42.11±15.39 years, single marital status (154; 59.25 %) and elementary education (75; 28.9 %). Most of them (203; 78.1 %) presented at least one psychiatric comorbidity at the emergency visit, but 109 (41.9 %) were not receiving any psychiatric follow-up. A total of 106 patients (40.8 %) had experienced at least one past psychiatric hospitalization. ConclusionsThe occurrence of PD is highly prevalent in PWE, and probably with a high frequency of psychiatric emergencies occurring among them. Further studies are needed to assess such patient profile, particularly involving data from psychiatric emergency units.

Knowledge, Attitude, and Practices Regarding Epilepsy among Nurses in Tertiary Care Hospitals

Background: Epilepsy is a prevalent neurological disorder marked by recurrent seizures, which can significantly impact quality of life. Understanding how epilepsy is managed in healthcare settings, particularly by nurses who play a critical role in direct patient care, is essential. However, knowledge gaps and varied practices exist among nurses, influencing their efficacy in managing epilepsy patients. Objective: This study aimed to assess the knowledge, attitudes, and practices regarding epilepsy among nurses in a tertiary care setting, with a focus on identifying areas of strength and those needing improvement. Methods: A descriptive cross-sectional study was conducted at Jinnah Hospital, Lahore. The sample comprised 138 registered and diploma nurses working in medical, surgical, and emergency units, excluding head nurses, student nurses, and those in outpatient departments. An adapted questionnaire was employed to evaluate knowledge about epilepsy, attitudes towards patients, and practical care approaches. Data analysis was performed using descriptive statistics in SPSS version 25, with checks for data normality and distribution. Results: The age distribution of participants showed 50.0% (69 nurses) within the 31-35 age group, 73.2% (101 nurses) were females, and experience levels varied with 53.6% (74 nurses) having 1-5 years of experience. Knowledge assessments revealed that 60.9% correctly identified epilepsy as non-contagious, yet misconceptions about epilepsy being a mental disorder were evident in 29.7% of responses. Practice-related responses indicated proper seizure management actions were inconsistently recognized, with only 29.0% knowing to avoid inserting objects in the patient's mouth during a seizure. Conclusion: The study identified critical gaps in the knowledge and practices of nurses regarding epilepsy care, emphasizing the need for targeted educational programs to enhance nursing competence in epilepsy management. Effective training could lead to better patient outcomes and reduce misconceptions associated with the condition.

GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis

Essential tremor (ET) is a prevalent neurological disorder with a largely unknown underlying biology. In this genome-wide association study meta-analysis, comprising 16,480 ET cases and 1,936,173 controls from seven datasets, we identify 12 sequence variants at 11 loci. Evaluating mRNA expression, splicing, plasma protein levels, and coding effects, we highlight seven putative causal genes at these loci, including CA3 and CPLX1. CA3 encodes Carbonic Anhydrase III and carbonic anhydrase inhibitors have been shown to decrease tremors. CPLX1, encoding Complexin-1, regulates neurotransmitter release. Through gene-set enrichment analysis, we identify a significant association with specific cell types, including dopaminergic and GABAergic neurons, as well as biological processes like Rho GTPase signaling. Genetic correlation analyses reveals a positive association between ET and Parkinson’s disease, depression, and anxiety-related phenotypes. This research uncovers risk loci, enhancing our knowledge of the complex genetics of this common but poorly understood disorder, and highlights CA3 and CPLX1 as potential therapeutic targets.

Assessing Knowledge and First-aid Practice Scores of Caregivers of Epilepsy Patients Before and After an Educational Programme in the Kingdom of Saudi Arabia

Background Although epilepsy is one of the most prevalent and severe neurologic disorders, our knowledge of its intricate pathophysiology and skills to manage are still limited. Recognising its early signs and symptoms are crucial skills for caregivers of epileptic patients to acquire. This study was aimed at assessing the effectiveness of an education programme on improvement in the caregivers’ knowledge of epilepsy and first-aid practices. The findings will assist caregivers of children with seizures who frequently experience fear and anxiety relative to their perceived confidence to manage seizures. Education to caregivers could improve their perceived level of self-efficacy. Methods A community-based, pre- and post-intervention survey was conducted at neurologic care clinics across Saudi Arabia. Data were collected using a pretested, semi-structured, interviewer-administered questionnaire. The educational intervention was aimed at disseminating information via a short talk and video demonstration of epilepsy-related first-aid good practices. Data were analysed using SPSS version 21. Results Pre-intervention survey of 586 caregivers revealed that nearly 60% had inadequate knowledge of epilepsy; this was reduced to 23.2% after education. Similarly, 84% of caregivers had inadequate knowledge of first-aid practices before the educational intervention, but this was reduced to 32.4% after that. Having resided in the Western regions was a negative predictor of good first-aid practice knowledge scores, both before and after education. A university degree or higher education was positive predictor of higher knowledge scores both before (T=-4.564; p<0.001) and after education (T=-2.775; p=0.025). The oldest caregivers (>50 years) exhibited a significantly lower mean first-aid practice knowledge score (F=7.771; p=0.001). Conclusion Caregivers’ general and first-aid practice knowledge were generally poor prior to but were both markedly improved after educational interventions. Targeted educational health promotion could bring awareness to those with lower levels of education and older caregivers living in particularly the Western regions of Saudi Arabia. (255 words)

The impact of Withania somnifera and carbamazepine on epileptic phenotype in Drosophila temperature-sensitive mutants

BackgroundEpilepsy, a prevalent neurological disorder affecting individuals across all age groups, often requires treatment with antiepileptic drugs (AEDs). While Carbamazepine (CBZ) serves a commonly prescribed first-line medication, its efficacy is limited in 30–40 % of patients. In exploring alternative treatment options. Herbal medicines like Withania somnifera (W. somnifera) offer promising benefits with reduced adverse effects. This study aims to assess the therapeutic impacts of W. somnifera and CBZ on behavioral paralysis, reproductive abilities, and lifespan in a Drosophila paralytic temperature-sensitive mutant (paraST76). MethodsparaST76 flies were exposed to three distinct concentrations of W. somnifera or CBZ added to wheat flour-agar media. ResultsThe results indicate that high concentration of W. somnifera effectively extended the lifespan of Drosophila paraST76 without compromising fecundity and fertility. Conversely, exposure to 40 μg/ml of CBZ resulted in a shortened lifespan and decreased reproductive ability in the paraST76 mutant. Importantly, our findings demonstrate that neither W. somnifera nor CBZ exerted any notable impact on behavioral paralysis, as per our dataset analysis. ConclusionThis study exhibits that W. somnifera is a safe compound, devoid of any adverse effects, and possesses the capability to prolong the lifespan of Drosophila. Nevertheless, it does not affect the voltage-gated sodium channel of the paraST76 mutant.

Dopaminergic Cell Replacement for Parkinson's Disease: Addressing the Intracranial Delivery Hurdle.

Parkinson's disease (PD) is an increasingly prevalent neurological disorder, affecting more than 8.5 million individuals worldwide. α-Synucleinopathy in PD is considered to cause dopaminergic neuronal loss in the substantia nigra, resulting in characteristic motor dysfunction that is the target for current medical and surgical therapies. Standard treatment for PD has remained unchanged for several decades and does not alter disease progression. Furthermore, symptomatic therapies for PD are limited by issues surrounding long-term efficacy and side effects. Cell replacement therapy (CRT) presents an alternative approach that has the potential to restore striatal dopaminergic input and ameliorate debilitating motor symptoms in PD. Despite promising pre-clinical data, CRT has demonstrated mixed success clinically. Recent advances in graft biology have renewed interest in the field, resulting in several worldwide ongoing clinical trials. However, factors surrounding the effective neurosurgical delivery of cell grafts have remained under-studied, despite their significant potential to influence therapeutic outcomes. Here, we focus on the key neurosurgical factors to consider for the clinical translation of CRT. We review the instruments that have been used for cell graft delivery, highlighting current features and limitations, while discussing how future devices could address these challenges. Finally, we review other novel developments that may enhance graft accessibility, delivery, and efficacy. Challenges surrounding neurosurgical delivery may critically contribute to the success of CRT, so it is crucial that we address these issues to ensure that CRT does not falter at the final hurdle.

Pathologically based criteria to distinguish essential tremor from controls: analyses of the human cerebellum.

Essential tremor is among the most prevalent neurological diseases. Diagnosis is based entirely on neurological evaluation. Historically, there were few postmortem brain studies, hindering attempts to develop pathologically based criteria to distinguish essential tremor from control brains. However, an intensive effort to bank essential tremor brains over recent years has resulted in postmortem studies involving >200 brains, which have identified numerous degenerative changes in the essential tremor cerebellar cortex. Although essential tremor and controls have been compared with respect to individual metrics of pathology, there has been no overarching analysis to derive a combination of metrics to distinguish essential tremor from controls. We asked whether there is a constellation of pathological findings that separates essential tremor from controls, and how well that constellation performs. Analyses included 100 essential tremor brains from the essential tremor centralized brain repository and 50 control brains. A standard tissue block from the cerebellar cortex was used to quantify 11 metrics of pathological change. Three supervised classification algorithms were investigated, with data divided into training and validation samples. Using three different algorithms, we illustrate the ability to correctly predict a diagnosis of essential tremor, with sensitivity and specificity >87%, and in the majority of situations, >90%. We also provide a web-based application that uses these metric values, and based on specified cutoffs, determines the likely diagnosis. These analyses set the stage for use of pathologically based criteria to distinguish clinically diagnosed essential tremor cases from controls, at the time of postmortem.

Enhancing Executive Functions in Pediatric Epilepsy: Feasibility and Efficacy of a Computerized Cognitive Training Program.

Epilepsy, a prevalent neurological disorder characterized by recurrent seizures, significantly impacts individuals' neurobiological, cognitive, and social lives. This report presents a feasibility study investigating the effects of a computerized cognitive training program on enhancing executive functions, particularly inhibitory control, in children and adolescents with epilepsy. Employing a pre-test-intervention-post-test design, the study involved 26 participants with diverse epileptic syndromes, focusing on those without severe intellectual disabilities. The intervention, based on the CogniFit Inc. platform, consisted of personalized tasks aiming to improve participants' inhibitory skills over 16 weeks, with an average of 40 sessions completed per participant. Results indicated significant improvements in reaction times and error rates in an anti-saccade task, demonstrating enhanced inhibitory control and general performance post-intervention. These findings suggest that targeted cognitive training is a feasible approach to bolster executive functions in young individuals with epilepsy, potentially improving their academic performance, employability, and social interactions. The study underscores the importance of early cognitive interventions in epilepsy management, highlighting the potential for computerized programs to aid in mitigating cognitive deficits associated with the condition.

An economic evaluation of eptinezumab for the preventive treatment of migraine in the UK, with consideration for natural history and work productivity

BackgroundMigraine is a highly prevalent neurological disease with a substantial societal burden due to lost productivity. From a societal perspective, we assessed the cost-effectiveness of eptinezumab for the preventive treatment of migraine.MethodsAn individual patient simulation of discrete competing events was developed to evaluate eptinezumab cost-effectiveness compared to best supportive care for adults in the United Kingdom with ≥ 4 migraine days per month and prior failure of ≥ 3 preventive migraine treatments. Individuals with sampled baseline characteristics were created to represent this population, which comprised dedicated episodic and chronic migraine subpopulations. Clinical efficacy, utility, and work productivity inputs were based on results from the DELIVER randomised controlled trial (NCT04418765). Timing of natural history events and treatment holidays—informed by the literature—were simulated to unmask any natural improvement of the disease unrelated to treatment. The primary outcomes were monthly migraine days, migraine-associated costs, quality-adjusted life years (QALYs), incremental cost-effectiveness ratio, and net monetary benefit, each evaluated over a 5-year time horizon from 2020. Secondary analyses explored a lifetime horizon and an alternative treatment stopping rule.ResultsTreatment with eptinezumab resulted in an average of 0.231 QALYs gained at a saving of £4,894 over 5 years, making eptinezumab dominant over best supportive care (i.e., better health outcomes and less costly). This result was confirmed by the probabilistic analysis and all alternative assumption scenarios under the same societal perspective. Univariate testing of inputs showed net monetary benefit was most sensitive to the number of days of productivity loss, and monthly salary.ConclusionsThis economic evaluation shows that from a societal perspective, eptinezumab is a cost-effective treatment in patients with ≥ 4 migraine days per month and for whom ≥ 3 other preventive migraine treatments have failed.Trial registrationN/A.Graphical

Enhancing Epilepsy Awareness and Cooperative Care in Elementary and Middle Schools

Epilepsy, a prevalent chronic neurological disorder, presents numerous challenges for people with epilepsy (PWEs) and their caregivers. They experience difficulties in receiving proper care and support due to stigma and misconceptions. Promoting public awareness in early education would be critical to reduce the stigma and to properly support them. We conducted 145 surveys and 21 interviews with teachers, school nurses, and parents of elementary and middle school students. While the participants exhibited slightly positive attitudes towards PWEs, we identified obstacles that hinder learning about epilepsy and seizure first aid: inadequate education and limited information sharing among school stakeholders. Moreover, there is a pressing need for age-appropriate education that considers the students' ages and perceptual levels. Considering the current limitations and needs, we propose potential implications for future information and communication technologies (ICTs) designs, including knowledge-sharing systems and an educational game aimed at enhancing epilepsy awareness and fostering collaborative care in elementary and middle school environments.

A Comprehensive <i>in Silico</i> Analysis of the Functional and Structural Consequences of the Deleterious Missense Nonsynonymous SNPs in Human <i>GABRA6</i> Gene

Epilepsy, a prevalent neurological disorder, affects more than 50 million individuals worldwide and is characterized by recurring seizures. Nonsynonymous single nucleotide polymorphisms (nsSNPs) found within coding regions of epilepsy-related genes are believed to have significant impacts on protein function. This is due to their tendency to cause mutations in the encoded amino acids, which can subsequently lead to pathogenic alterations in protein structure and function. Consequently, nsSNPs have the potential to serve as diagnostic markers for epilepsy and other neuropsychiatric conditions. The primary objective of this study is to evaluate the harmful effects of missense nsSNP mutations on the <em>GABRA6</em> gene. The <em>GABRA6</em> gene encodes the alpha-6 subunit of the GABA<sub>A</sub> receptor, and previous research showed one case substitution mutation in the GABRA6 gene is associated with childhood absence epilepsy (CAE) and atonic seizures. To achieve this, we employed various computational tools, including SIFT, PolyPhen-2, PROVEAN, Condel, SNPs & GO, PMut, SNAP2, MutPred2, and SNPeffect4.0, for predicting missense nsSNPs. Additionally, we used I-Mutant3.0 and MUpro to analyze protein stability, ConSurf to assess evolutionary conservation, FTSite and COACH to predict ligand binding sites, SOPMA and PSIPRED to analyze protein secondary structures, project HOPE to predict structural changes, and I-TASSER to model the 3D structure. Furthermore, structural validation was conducted using the PROCHECK and ERRAT servers. At the same time, molecular dynamics simulations were performed using GROMACS to gain a better understanding of the effects of mutations on protein structure. Among the 451 missense nsSNPs identified within the <em>GABRA6</em> gene, three were found to have pathogenic effects on the structure and function of the protein, potentially, there may be a contribution to the development of seizures or other neuropsychiatric disorders. Notably, two of these missense nsSNPs (<em>W87S</em> and <em>W112R</em>) were located within the ligand-binding domain, while the third (<em>C310R</em>) was situated in the transmembrane domain. It is crucial to acknowledge that despite their predicted pathogenicity, these variants are currently classified as of uncertain significance in clinical and genomic databases worldwide due to the lack of correlation with epilepsy in empirical studies. Without experimental data to validate these predictions, caution is warranted in interpreting the findings.

Revolutionizing dementia detection: Leveraging vision and Swin transformers for early diagnosis.

Dementia, an increasingly prevalent neurological disorder with a projected threefold rise globally by 2050, necessitates early detection for effective management. The risk notably increases after age 65. Dementia leads to a progressive decline in cognitive functions, affecting memory, reasoning, and problem-solving abilities. This decline can impact the individual's ability to perform daily tasks and make decisions, underscoring the crucial importance of timely identification. With the advent of technologies like computer vision and deep learning, the prospect of early detection becomes even more promising. Employing sophisticated algorithms on imaging data, such as positron emission tomography scans, facilitates the recognition of subtle structural brain changes, enabling diagnosis at an earlier stage for potentially more effective interventions. In an experimental study, the Swin transformer algorithm demonstrated superior overall accuracy compared to the vision transformer and convolutional neural network, emphasizing its efficiency. Detecting dementia early is essential for proactive management, personalized care, and implementing preventive measures, ultimately enhancing outcomes for individuals and lessening the overall burden on healthcare systems.

A survey-based approach on restless legs syndrome: practices and perspectives among Italian neurologists.

Restless Legs Syndrome (RLS) is a widely prevalent and complex neurological disorder. Despite notable advancements in managing RLS, the disorder continues to face challenges related to its recognition and management. This study seeks to gain comprehensive insights into the knowledge and clinical practices among Italian neurologists regarding RLS diagnosis, management, and treatment, comparing approaches among general neurologists, movement disorder specialists, and sleep experts. Members of the Italian Society of Neurology, the Italian Society of Parkinson and Movement Disorders, and the Italian Association of Sleep Medicine were invited to participate in a 19-question online survey. Among the 343 surveyed neurologists, 60% categorized RLS as a "sleep-related movement disorder." Forty% indicated managing 5-15 RLS patients annually, with sleep specialists handling the highest patient volume. Of note, only 34% adhered strictly to all five essential diagnostic criteria. The majority (69%) favored low-dosage dopamine agonists as their first-line treatment, with movement disorder specialists predominantly endorsing this approach, while sleep experts preferred iron supplementation. Regular screening for iron levels was widespread (91%), with supplementation typically guided by serum iron alterations. In cases of ineffective initial treatments, escalating dopamine agonist dosage was the preferred strategy (40%). These findings underscore a lack of a clear conceptualization of RLS, with a widespread misconception of the disorder as solely a movement disorder significantly influencing treatment approaches. Disparities in RLS understanding across neurology subspecialties underscore the necessity for improved diagnostic accuracy, targeted educational initiatives, and management guidelines to ensure consistent and effective RLS management.