Neurology International最新文献

{"title":"SeruNet-MS: A Two-Stage Interpretable Framework for Multiple Sclerosis Risk Prediction with SHAP-Based Explainability.","authors":"Serra Aksoy, Pinar Demircioglu, Ismail Bogrekci","doi":"10.3390/neurolint17090151","DOIUrl":"10.3390/neurolint17090151","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Multiple sclerosis (MS) is a chronic demyelinating disease where early identification of patients at risk of conversion from clinically isolated syndrome (CIS) to clinically definite MS remains a critical unmet clinical need. Existing machine learning approaches often lack interpretability, limiting clinical trust and adoption. The objective of this research was to develop a novel two-stage machine learning framework with comprehensive explainability to predict CIS-to-MS conversion while addressing demographic bias and interpretability limitations. <b>Methods:</b> A cohort of 177 CIS patients from the National Institute of Neurology and Neurosurgery in Mexico City was analyzed using SeruNet-MS, a two-stage framework that separates demographic baseline risk from clinical risk modification. Stage 1 applied logistic regression to demographic features, while Stage 2 incorporated 25 clinical and symptom features, including MRI lesions, cerebrospinal fluid biomarkers, electrophysiological tests, and symptom characteristics. Patient-level interpretability was achieved through SHAP (SHapley Additive exPlanations) analysis, providing transparent attribution of each factor's contribution to risk assessment. <b>Results:</b> The two-stage model achieved a ROC-AUC of 0.909, accuracy of 0.806, precision of 0.842, and recall of 0.800, outperforming baseline machine learning methods. Cross-validation confirmed stable performance (0.838 ± 0.095 AUC) with appropriate generalization. SHAP analysis identified periventricular lesions, oligoclonal bands, and symptom complexity as the strongest predictors, with clinical examples illustrating transparent patient-specific risk communication. <b>Conclusions:</b> The two-stage approach effectively mitigates demographic bias by separating non-modifiable factors from actionable clinical findings. SHAP explanations provide clinicians with clear, individualized insights into prediction drivers, enhancing trust and supporting decision making. This framework demonstrates that high predictive performance can be achieved without sacrificing interpretability, representing a significant step forward for explainable AI in MS risk stratification and real-world clinical adoption.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12472785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of Hypothyroidism on the Risk of Carpal Tunnel Syndrome and Electrodiagnostic Parameters.","authors":"Ahmad R Abuzinadah","doi":"10.3390/neurolint17090150","DOIUrl":"10.3390/neurolint17090150","url":null,"abstract":"<p><strong>Background: </strong>Hypothyroidism has been implicated as a risk factor for carpal tunnel syndrome (CTS). However, the effect of hypothyroidism on the risk of CTS has not been studied in large, non-selective clinic populations, and the impact of hypothyroidism on electrodiagnostic parameters remains inadequately understood.</p><p><strong>Methods: </strong>In this retrospective study, we examined 480 patients referred for upper limb electrodiagnostic evaluation. We compared the prevalence of CTS among patients with and without hypothyroidism, adjusting for age and gender. Additionally, we compared the median nerve sensory and motor latencies and comparative latency studies (COLS) [median-to-ulnar comparison through palmar difference (Palmdiff) and ring difference studies (Ringdiff); and median-to-radial comparison through a thumb difference study (Thumbdiff)] among patients with and without hypothyroidism disease, stratified by CTS status and age groups.</p><p><strong>Results: </strong>The crude prevalence of CTS was higher among patients with hypothyroidism (79.7%) compared to those without (61.8%) (<i>p</i> = 0.005). However, after adjusting for age and gender, logistic regression analysis revealed a non-significant association between hypothyroidism and CTS (adjusted odds ratio (OR): 1.71; 95% CI: 0.89-3.28, <i>p</i> = 0.106). CTS was more prevalent among patients with hypothyroidism under 50 years of age (OR: 2.59; 95% CI: 1.17-5.73, <i>p</i> = 0.018). There were no significant differences in any electrodiagnostic parameters between patients with and without hypothyroidism among CTS and non-CTS groups.</p><p><strong>Conclusions: </strong>Hypothyroidism increased the risk of CTS among patients under 50 years of age. The electrodiagnostic parameters used for CTS diagnosis were not influenced by the presence of hypothyroidism.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12473067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurovascular Pathophysiology and Emerging Biomarkers in Cerebral Malaria: An Integrative Perspective.","authors":"Damian Pikor, Mikołaj Hurła, Natalia Banaszek-Hurła, Alicja Drelichowska, Małgorzata Paul","doi":"10.3390/neurolint17090149","DOIUrl":"10.3390/neurolint17090149","url":null,"abstract":"<p><p>Cerebral malaria is a life-threatening neurological complication of <i>Plasmodium falciparum</i> infection and a leading cause of pediatric mortality in endemic regions of sub-Saharan Africa. It is defined clinically by coma accompanied by peripheral parasitemia, without alternative causes. Pathogenetically, cytoadherence of parasitized erythrocytes in the cerebral microvasculature, together with a widespread inflammatory response and endothelial activation, causes profound microvascular injury. This injury includes disruption of the blood-brain barrier and the development of multifactorial cerebral oedema (both vasogenic and cytotoxic), resulting in elevated intracranial pressure and often diffuse brain swelling as seen on imaging in fatal cases. Recent high-resolution MRI studies in pediatric cohorts from these endemic regions have identified characteristic neuroimaging findings such as basal ganglia infarcts, brainstem lesions, and corpus callosum abnormalities that strongly predict poor outcomes. Notably, circulating extracellular vesicles-released by parasitized erythrocytes and activated endothelial cells have emerged as potent mediators of microvascular inflammation. Extracellular vesicles contain parasite-derived antigens and host inflammatory signals, implicating them in disease mechanisms. These vesicles are under investigation as novel diagnostic and prognostic biomarkers for severe malaria. Importantly, survivors of cerebral malaria often endure persistent neurocognitive impairments, behavioral problems, and epilepsy, underscoring the need to prevent secondary neuronal injury during the acute phase to reduce long-term disability. Taken together, these insights highlight the interplay between cerebral microvascular pathology and neurological outcome in cerebral malaria. This review synthesizes recent advances in the pathophysiology of cerebral malaria and cutting-edge diagnostic modalities. It highlights novel therapeutic targets and neuroprotective strategies that may enable precision medicine approaches aimed at preventing lasting neurological disability in survivors.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12472603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between Carotid Artery Small Plaque on Computed Tomography Angiography and Embolic Stroke of Undetermined Source.","authors":"Junpei Nagasawa, Tatsuhiro Yokoyama, Makiko Ogawa, Ryuichi Okamoto, Mari Shibukawa, Junya Ebina, Takehisa Hirayama, Osamu Kano","doi":"10.3390/neurolint17090148","DOIUrl":"10.3390/neurolint17090148","url":null,"abstract":"<p><p><b>Objectives</b>: While traditionally, carotid plaques with significant stenosis have been considered major embolic sources, recent evidence suggests that even non-stenotic small plaques with a <50% stenosis rate may contribute to cerebral infarction. Herein, we evaluated the relationship between non-stenotic small plaques and embolic stroke of undetermined source (ESUS) using computed tomography angiography (CTA). <b>Materials and Methods</b>: We retrospectively reviewed our single-institutional database of hospitalized patients with stroke between April 2017 and December 2022 and enrolled them with ESUS. We evaluated the presence or absence of non-stenotic carotid artery plaque lesions ipsilateral and contralateral to the cerebral infarction lesion using CTA. A neurologist, blinded to the stroke side and all other clinical information, reviewed each CTA and viewed the axial and sagittal CTA source images. In each image, a line perpendicular to the vessel wall was drawn and the plaque diameter was measured. The largest part was considered as the maximum plaque diameter. <b>Results</b>: A total of 951 patients with stroke were hospitalized during the study period. Among these, 35 patients with unilateral anterior circulation ESUS were enrolled. Plaque prevalence > 3 mm was compared between the carotid artery on the ESUS side and contralateral carotid artery. The prevalences were 31% and 8% on the ESUS and contralateral sides, respectively. Plaques > 3 mm were often found on the ESUS side. <b>Conclusions</b>: Patients with ESUS were more likely to exhibit non-stenotic plaques of ≥3 mm in the infarcted carotid artery than in the contralateral carotid artery. Thus, small non-stenotic plaques may be the embolization source in ESUS, and CT angiography is useful for these evaluations.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12472282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Pilot Study: The Effect of CPAP Intervention on Sleep Architecture and Cognition in Alzheimer's Disease Patients with Obstructive Sleep Apnea.","authors":"Carmen L Frias, Marta Almeria, Judith Castejon, Cristina Artero, Giovanni Caruana, Andrea Elias-Mas, Karol Uscamaita, Virginia Hawkins, Nicola J Ray, Mariateresa Buongiorno, Natalia Cullell, Jerzy Krupinski","doi":"10.3390/neurolint17090147","DOIUrl":"10.3390/neurolint17090147","url":null,"abstract":"<p><strong>Background: </strong>Obstructive sleep apnea (OSA) is highly prevalent in the early stages of Alzheimer's disease (AD), and its hallmark, sleep fragmentation, may accelerate cognitive decline. Continuous positive airway pressure (CPAP) improves OSA-related hypoxia during slow-wave sleep, but its cognitive benefits in AD remain unclear.</p><p><strong>Methods: </strong>We performed a 12-month sub-analysis of a prospective, longitudinal pilot study that enrolled 21 adults (median age = 77 yr; 71% women) with Mild Cognitive Impairment (MCI) with AD confirmed biomarkers and polysomnography-diagnosed OSA. All participants underwent baseline overnight polysomnography (PSG) and neuropsychological testing (Clinical Dementia Rating (CDR), Mini-Mental State Examination (MMSE), Repeatable Battery for the Assessment of Neuropsychological Status (RBANS)) that were repeated after 12 months. Twelve participants were CPAP-compliant (moderate/severe OSA) and nine were non-users (mild OSA/intolerance). Cognitive change scores (Δ = 12 months -baseline) were compared with Generalized Linear Models (GLM) adjusted for baseline cognition and Apnea-Hypopnea Index (AHI); associations between baseline sleep parameters and cognitive trajectories were examined. And the association of sleep variables with the use of CPAP was also evaluated.</p><p><strong>Results: </strong>Compared with non-users, CPAP users showed significantly slower global decline (Δ MMSE: <i>p</i> = 0.016) and improvements in overall cognition (Δ RBANS Total: <i>p</i> = 0.028) and RBANS sub-domains (Δ RBANS FC: <i>p</i> = 0.010; Δ RBANS SF: <i>p</i> = 0.045). Longer baseline non-rapid eye movement (NREM) stage 3 and rapid eye movement (REM) sleep, greater total sleep time and sleep efficiency, and right-side sleeping were each linked to better cognitive outcomes, whereas extended NREM stage 2, wakefulness, and supine sleeping were associated with poorer trajectories.</p><p><strong>Conclusions: </strong>Twelve months of CPAP use was associated with attenuated cognitive decline and domain-specific gains in AD-related MCI with OSA. Sleep architecture and body position during sleep predicted cognitive outcomes, underscoring the therapeutic relevance of optimizing breathing and sleep quality. Larger, longer-term trials are warranted to confirm CPAP's disease-modifying potential and to clarify the mechanistic role of sleep in AD progression.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12472331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Structural Brain Abnormalities, Diagnostic Approaches, and Treatment Strategies in Vertigo: A Case-Control Study.","authors":"Klaudia Széphelyi, Szilvia Kóra, Gergely Orsi, József Tollár","doi":"10.3390/neurolint17090146","DOIUrl":"10.3390/neurolint17090146","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Dizziness is a frequent medical complaint with neurological, otolaryngological, and psychological origins. Imaging studies such as CT (Computer Tomography), cervical X-rays, and ultrasound aid diagnosis, while MRI (Magnetic Resonance Imaging) is crucial for detecting brain abnormalities. Our purpose is to identify structural brain changes associated with vertigo, assess pre-MRI diagnostic approaches, and evaluate treatment strategies. <b>Methods:</b> A case-control study of 232 vertigo patients and 232 controls analyzed MRI findings, pre-MRI examinations, symptoms, and treatments. Statistical comparisons were performed using chi-square and <i>t</i>-tests (<i>p</i> < 0.05). <b>Results</b>: White matter lesions, lacunar infarcts, Circle of Willis variations, and sinusitis were significantly more frequent in vertigo patients (<i>p</i> < 0.05). Pre-MRI diagnostics frequently identified atherosclerosis (ultrasound) and spondylosis (X-ray). Common symptoms included headache, imbalance, and visual disturbances. The most frequent post-MRI diagnosis was Benign Paroxysmal Positional Vertigo (BPPV). Treatments included lifestyle modifications, physical therapy (e.g., Epley maneuver), and pharmacological therapies such as betahistine. <b>Conclusions</b>: MRI revealed structural brain changes linked to vertigo. Pre-MRI assessments are essential for ruling out vascular and musculoskeletal causes. A multidisciplinary treatment approach is recommended. <b>Trial Registration:</b> This study was registered in ClinicalTrials.gov with the trial registration number NCT06848712 on 22 February 2025.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12472988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biological Plausibility of Using Plasma Amino Acid Profile Determination as a Potential Biomarker for Pediatric Patients with Mild Traumatic Brain Injuries.","authors":"Adán Pérez-Arredondo, Eduardo Cázares-Ramírez, Luis Tristán-López, Carlos Jiménez-Gutiérrez, Diana L Pérez-Lozano, Ivette A Martínez-Hernández, Valentina Vega-Rangel, Hugo F Narváez-González, Camilo Rios, Marina Martínez-Vargas, Luz Navarro, Liliana Carmona-Aparicio","doi":"10.3390/neurolint17090145","DOIUrl":"10.3390/neurolint17090145","url":null,"abstract":"<p><strong>Background: </strong>Amino acid biomarkers have a crucial influence on our understanding of brain injury mechanisms, and their plasma concentrations may indicate neurological damage and recovery patterns. Pediatric mild traumatic brain injury (mTBI) assessment particularly benefits from such molecular indicators, as clinical presentations can be subtle and variable. However, current diagnostic and prognostic tools lack reliable biochemical markers that can track the temporal evolution of injuries and recovery.</p><p><strong>Methods: </strong>We conducted a prospective longitudinal cohort study involving 36 pediatric mTBI patients and 44 controls to characterize the temporal evolution of key amino acids and their derived indices. Blood samples were collected at 3, 6, 12, and 24 h and at 7, 14, and 28 days post-injury, with amino acids quantified using high-performance liquid chromatography.</p><p><strong>Results: </strong>Our analysis revealed significant temporal changes in glutamate, glutamine, and glycine concentrations, with glutamate peaking at day 7 before declining, while glutamine showed steady increases throughout. The GLN/GLU ratio demonstrated an early excitatory imbalance followed by astrocytic compensation, and the GLX ratio indicated progressive recovery.</p><p><strong>Conclusions: </strong>These patterns represent continuous neurochemical processes involving excitotoxicity and glial regulation, suggesting potential utility as biomarkers for mTBI diagnosis and monitoring. While further validation using larger cohorts is needed, these findings provide compelling evidence of the efficacy of using amino acid profiles to track pediatric mTBI progression and recovery.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12473026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma Neurofilament Light Chain Is Associated with Cognitive Functions but Not Patient-Reported Outcomes in Multiple Sclerosis.","authors":"Valerio Nicolella, Federica Novarella, Fabrizia Falco, Carmela Polito, Rosa Sirica, Evelina La Civita, Vincenzo Criscuolo, Giuseppe Corsini, Antonio Luca Spiezia, Alessia Castiello, Antonio Carotenuto, Maria Petracca, Roberta Lanzillo, Giuseppe Castaldo, Vincenzo Brescia Morra, Daniela Terracciano, Marcello Moccia","doi":"10.3390/neurolint17090144","DOIUrl":"10.3390/neurolint17090144","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to explore associations between plasma neurofilament light chain (pNfL) and cognition through patient-reported outcomes (PROs) in multiple sclerosis (MS).</p><p><strong>Methods: </strong>In this cross-sectional study, we included 211 people with MS (PwMS) and collected data from pNfL (fully automated chemiluminescent enzyme immunoassay), EDSS, education, cognition (the Symbol Digit Modalities Test (SDMT), California Verbal Learning Test-II (CVLT II), and Brief Visuospatial Memory Test-Revised (BVMT-R)), the Modified Fatigue Impact Scale (MFIS), Beck Depression Inventory (BDI-II), Beck Anxiety Inventory (BAI), and Pittsburgh Sleep Quality Index (PSQI).</p><p><strong>Results: </strong>On multivariate linear regression models, higher educational attainment was significantly associated with lower pNfL (high school: Coeff = -0.22, 95% CI = -0.41 to -0.04, <i>p</i> = 0.019; university: Coeff = -0.22, 95% CI = -0.42 to -0.02, <i>p</i> = 0.030). In logistic regression models, the likelihood of having pNfL levels above normal thresholds increased by 56% for each one-point increment in the EDSS score (OR = 1.56, 95% CI = 1.23 to 1.98, <i>p</i> < 0.001) and was 2.5 times greater in individuals with impaired SDMT (OR = 2.50, 95% CI = 2.20 to 5.21, <i>p</i> = 0.014). No statistically significant associations were observed between pNfL and CVLT-II, BVMT-R, BDI-II, MFIS, BAI, or PSQI.</p><p><strong>Conclusions: </strong>Neuro-axonal damage in people with MS manifests clinically as increased disability and reduced attention and processing speed. However, these effects may be mitigated by greater brain resilience, as suggested by the protective role of higher educational attainment. The PROs assessed in this study showed no significant associations with pNfL levels, possibly due to measurement errors and heterogeneity, with limited sensitivity to neuro-axonal damage.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12472482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pericapsular Nerve Group Block Versus Lumbar Epidural Block for Pain Management After Hip Surgeries with a Focus on Pediatric Patients: A Narrative Review.","authors":"Shahab Ahmadzadeh, Hunter M Schwab, Mary O'Dell Duplechin, Kalob M Broocks, Jon D Hirsch, Joseph Drinkard, Sahar Shekoohi","doi":"10.3390/neurolint17090142","DOIUrl":"10.3390/neurolint17090142","url":null,"abstract":"<p><p>Pediatric hip surgeries are associated with moderate to high levels of pain, which, in severe cases can lead to opioid prescription and use. There is a growing focus on reducing post-operative pain in these patients to decrease the need for opioids, as well as increase early mobilization for recovery. Conventional methods of pain relief using opioids can have unwanted negative impacts on pediatric patients such as respiratory depression, nausea, confusion, and the concerning possibility for the development of dependence. Likewise, traditional methods of anesthesia, like the lumbar epidural block, can have unwanted systemic side effects, such as hypotension, urinary retention, arrhythmias, and spinal abscesses. These complications can lead to longer hospital stays and delayed recovery. This review analyzes the efficacy of a newer regional anesthesia technique, the pericapsular nerve group (PENG) block, in comparison to the lumbar epidural block. This technique utilizes precision-based anesthesia to selectively block the articular branches to the hip joint while avoiding the main trunks of the femoral and obturator nerves. Additionally, with the utilization of high-resolution ultrasound to guide the blocks, providers can increasingly count on proper insertion and predictable anesthetic spread. The result is a motor-sparing blockade that shows promise in allowing earlier mobilization and better functional recovery times after pediatric hip surgeries.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12472317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperkinetic Movement Disorder in <i>KARS1</i>-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.","authors":"Veronica Ferasin, Arianna Raicich, Caterina Ancora, Ilaria Bonemazzi, Alessandro Di Paola, Ignazio D'Errico, Margherita Nosadini, Claudio Ancona, Maria Federica Pelizza, Matteo Cassina, Irene Toldo","doi":"10.3390/neurolint17090143","DOIUrl":"10.3390/neurolint17090143","url":null,"abstract":"<p><strong>Background: </strong>Aminoacyl-tRNA synthetases (ARSs) are a group of enzymes responsible for the first step of protein translation. Among them, the KARS1 gene encodes lysyl-tRNA synthetase 1, an enzyme essential for charging tRNA-Lys with lysine in both the cytoplasm and mitochondria. Mutations in KARS1 are associated with a wide range of clinical phenotypes, including leukoencephalopathy, hereditary deafness, peripheral neuropathies, and multisystemic involvement.</p><p><strong>Methods: </strong>We hereby report a detailed case study of a 15-month-old boy presenting at age 5 months with developmental delay, microcephaly, hypotonia, sensorineural deafness, retinopathy, visual impairment, nystagmoid eye movements, and hepatic and immuno-hematological abnormalities. In addition, he exhibited a severe hyperkinetic movement disorder, not previously reported in the literature, and developed epilepsy at 13 months. Genetic testing identified two rare compound heterozygous variants in the KARS1 gene.</p><p><strong>Results: </strong>With this report, we aim to contribute to the expanding of both the clinical phenotype and the allelic spectrum of lysyl-tRNA synthetase-related disorders. Our study also includes a review of previously described KARS1 cases presenting with movement disorders.</p><p><strong>Conclusions: </strong>Our findings further highlight the importance of assessing systemic involvement and performing brain and spinal neuroimaging, as well as implementing genetic screening, in infants presenting with global developmental delay, sensory deficits, and movement disorders-features that may suggest a mitochondrial disorder such as those involving ARS mutations.</p>","PeriodicalId":19130,"journal":{"name":"Neurology International","volume":"17 9","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12472568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}