Neurology India最新文献

Abstract: Spinal cord injury (SCI) remains a severe condition that leads to permanent motor and sensory impairments, significantly affecting patients' quality of life. In recent years, neuromodulation techniques such as spinal cord stimulation (SCS), transcranial magnetic stimulation (TMS), and transcranial direct current stimulation (tDCS) have shown promising results in promoting neural plasticity and functional recovery. However, the limitations of single-modality approaches have spurred the development of multimodal neuromodulation strategies. This review systematically analyzes the integrated application of multimodal neuromodulation techniques in SCI rehabilitation. We first provide an overview of current neuromodulation methods, including SCS, TMS, tDCS, and brain-computer interface (BCI), highlighting their individual mechanisms and clinical outcomes. Next, we discuss the synergistic effects of combining these techniques, such as SCS with TMS or BCI, which act on multiple levels of the nervous system to enhance neuroplasticity, reconstruct neural networks, and modulate neurotransmitter release. Additionally, we explore the mechanisms underlying multimodal neuromodulation, emphasizing its role in promoting axonal regeneration, synaptic reconnection, and adaptive functional recovery. Despite the promising advancements, challenges remain, including technical complexity, safety concerns, and the heterogeneity of SCI patients. Addressing these limitations requires standardized treatment protocols and further clinical validation. Future trends, such as the development of closed-loop systems, artificial intelligence-driven precision rehabilitation, and personalized therapies, will likely drive innovations in this field. In conclusion, multimodal neuromodulation techniques offer a synergistic and integrative approach for SCI rehabilitation, providing new avenues for clinical intervention. This review underscores the importance of combining complementary techniques to optimize neural recovery and highlights the potential for future breakthroughs in neurorehabilitation.

Background and purpose: The etiology of drug-resistant epilepsy (DRE) is multifactorial. A small proportion of affected patients are diagnosed with genetics. Nowadays, specific gene panels and whole-exome sequencing (WES) have increased the opportunities for specific diagnosis and treatments with developments in genetics. In this cohort study, we determined the specific diagnostic value of gene panels and WES analysis in our cases with the diagnosis of DRE.

Methods: The medical records of 3727 cases were reviewed. The clinical features and genetic results of the cases who underwent TruSight One panel testing (116 cases) and WES (413 cases), followed by a diagnosis of DRE, were evaluated.

Results: Significant pathogenic mutations were detected in 234 (56.7%) of 413 patients who underwent WES. The original diagnosis was made in 55 (47.4%) of 116 cases in which the TruSight One panel was studied. Significant mutations (49.3%) were detected in 261 of 529 patients. Pathogenic mutations were detected most frequently in SCN1A (n = 20), STXBP1(n = 9), and CDKL5 (n = 9) genes. Afterwards, significant pathogenic changes were found in MECP2, ADGRV1, CACNA1H, KCNQ2, RELN, TREX1, WWOX, CACNA1, PRUNE1, CLP1, CPA7, PNKP, IFIH1, SCN8A, SCN9A, NDUFA6, UBE3A, BRPF1, CHD2, CILK1, CLCN2, EEF1A2, FLNA, GABRG2, GRIN2A, HCN1, TPP1, CLN6, FLNA, KCTD7, MTHFR, ITPA, FOXG1, KCNMA1, KCNT1, KCTD7, LAMC3, MTO1, RHOBTB2, SCN2A, SCN3A, SLC2A1, SYNGAP1, NPRL3, ad PRRT2 genes.

Conclusion: Despite detecting the increasing number of DRE-associated genes, the clinical features of these disorders often overlap, making it difficult to make a systematic diagnosis. Genetic tests, especially WES analysis, significantly increase the rate of original diagnosis in DRE cases. A definite genetic diagnosis is very important in terms of avoiding unnecessary tests, choosing specific treatment, and genetic counseling.

Background: The integration of Artificial Intelligence (AI) in neurosurgery holds immense potential to enhance diagnostic accuracy, surgical precision, and clinical decision-making. However, the development of AI-driven tools relies on high-quality, standardized datasets, which remain scarce, particularly in settings with a poor doctor-patient ratio.

Objectives: This study aims to identify key challenges in creating an AI-ready dataset for dural-based lesions and propose practical solutions to overcome these barriers.

Methods: Histopathology slides from 122 patients across multiple institutions over 1 year. The data underwent anonymization, curation, and annotation by a multidisciplinary team to ensure high-quality labeling for AI applications.

Results: Several challenges were encountered during dataset development, including imaging variability across institutions, retrospective data gaps, labor-intensive manual annotation, and interobserver inconsistencies. Additionally, concerns regarding data security and privacy complicated dataset standardization. To address these issues, we propose solutions such as standardized imaging protocols inspired by global best practices, AI-assisted annotation tools to reduce workload, automated quality control mechanisms to improve data integrity, and federated learning models for privacy-preserving AI training. Secure data transfer protocols and structured deidentification methods were also implemented to mitigate privacy risks.

Conclusion: By addressing these critical challenges, this study establishes a structured, high-quality dataset tailored for AI applications in neurosurgery. This initiative will facilitate the development of robust AI models for improved diagnostic and therapeutic decision-making and contribute to the broader goal of enhancing AI-driven healthcare solutions in India. Continued research, collaboration, and refinement of these methodologies will be essential in realizing AI's full potential in neurosurgical practice.

Introduction: Restless leg syndrome (RLS) pathophysiology is yet unclear. The role of iron deficiency, dysfunction of the dopaminergic system, and hypoxia are well-known mechanisms related to pathophysiology. C-type natriuretic peptide (CNP) is a neuropeptide that is released from the cerebral structures and endothelium. In current literature, serum concentrations of NT pro-CNP were correlated to concentrations of the central nervous system. In this study, we aimed to investigate the relationship between serum NT pro-CNP and other biochemical markers with RLS.

Materials and methods: A total of 45 patients with idiopathic RLS and 45 healthy subjects were included in the study and the levels of iron, ferritin, and NT pro-CNP were measured. In addition, the correlation of iron, ferritin levels, sleep disorders, and the severity of RLS with NT pro-CNP was evaluated.

Results: Serum iron level was lower in patients with RLS compared with healthy controls, but there was no significant difference between groups regarding ferritin levels. NT pro-CNP level was significantly lower in patients with RLS compared with the healthy controls. The sensitivity and specificity of NT pro-CNP were 80% and 88.9%, respectively, in the diagnosis of RLS.

Discussion: Our findings may support the hypoxic and dopaminergic mechanisms. It has been also reported that the CNP receptor is widely expressed in cerebral structures and the spinal cord, this also plays an important role in the development of dorsal sensorial neurons of the spinal cord. In other words, low NT pro-CNP might be related to symptoms of RLS.

Conclusion: Serum levels of NT pro-CNP are relatively decreased in patients with RLS. A pharmacological agent, which can increase CNP, might be an effective treatment choice for symptoms of RLS and CNP might be used as an assessment tool in evaluating the efficacy of treatment.

Abstract: Intraoperative hypotension (IOH) is a common occurrence during general anaesthesia for neurosurgery. Hypotension Prediction Index (HPI) is a recently available novel tool that uses arterial waveform features to predict IOH. This study aims to evaluate the role of HPI-integrated haemodynamic management protocol on IOH outcomes during brain tumour surgery. This is a single-centre, parallel-group, randomised controlled trial, approved by the Institute's Ethics Committee and the Clinical Trial Registry of India, and funded by the Indian Council of Medical Research. Consenting and eligible adult patients undergoing brain tumour decompression surgery will be randomised to either HPI-guided (n = 90) or conventional (n = 90) haemodynamic management in a 1:1 allocation ratio using a computerised random allocation sequence. Our primary outcome is the duration of IOH. Our secondary outcomes are the time-weighted average of IOH of mean arterial pressure < 65 mmHg, and incidence, severity, and timing of IOH. We will collect data about adverse effects of IOH, including vasopressor use, myocardial ischaemia, acute kidney injury, emergence and postoperative delirium, duration of intensive care unit, and hospital stay. If our study results demonstrate a beneficial effect of HPI, this will change current anaesthetic practice and approach to IOH, and improve perioperative outcomes after brain tumour surgery.

Neurodegenerative diseases commonly manifest as progressive deterioration of neurological function in varied forms. Damage to the cerebellum disrupts the coordination of limb and eye movements, impairs balance, and decreases muscle tone. A 11-year-old male child born to consanguineous parents, developmentally normal until five years of age, presented with a history of frequent falls while walking and speech difficulty from the age of five years. On examination, bilateral ocular motor apraxia was seen with an ataxic gait and slurred speech. All the other cerebellar signs were present. Magnetic resonance imaging of the brain revealed severe cerebellar vermian hypoplasia with global cerebellar cortex atrophy. Suspecting an inherited cause of ataxia, whole exome sequencing was done, which revealed a frameshift mutation in the aprataxin gene with the diagnosis of Early-onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH). While evaluating a case of ataxia, EAOH should be kept as a differential diagnosis, as though it is a rare entity, it can prove to be a chronic disabling disorder for children requiring life-long physical rehabilitation and occupational therapy.

Background: Non-motor symptoms have a more significant impact on the quality of life in Parkinson's disease than motor symptoms.

Objectives: To evaluate the frequency of non-motor symptoms in Parkinson's disease and study their impact on quality of life.

Methods: A cross-sectional study was conducted on 100 patients with idiopathic Parkinson's disease. All patients underwent a detailed history and neurological examination, Hoehn and Yahr staging, MDS UPDRS scoring, NMSS scoring, and PDQ-39 scoring to assess their quality of life.

Results: All patients presented with at least one non-motor symptom. The most frequently affected non-motor symptom was sleep/fatigue (95%), followed by urinary (79%) and gastrointestinal dysfunction (76%). The total NMSS score significantly correlated with disease severity and quality of life.

Conclusion: Non-motor symptoms are quite prevalent in patients with Parkinson's disease and significantly impact their quality of life.