Neurology India最新文献

Objectives: To evaluate the outcomes of intracranial arteriovenous malformations (AVMs) after single-session treatment with gamma knife radiosurgery (GKRS) and factors influencing the outcomes.

Methods and material: Single-center retrospective study, including patients undergoing GKRS for intracranial AVMs. Demography, treatment profiles, and follow-ups were collected from the medical records. Obliteration rates, adverse radiation events (AREs), and clinical outcomes were noted, and factors influencing the same were evaluated.

Results: A total of 313 patients with a mean age of 27 years (8-66 years) were included in the study. While Spetzler-Martin (SM) grade 2 (46.3%) or SM grade 3 (37.4%) AVMs were common, SM grade 1 and SM grade 4 accounted for 10.9% and 5.4% of cases. The mean modified Pollock-Flickinger (PF) score was 1.02 (0.18-2.23), whereas the mean AVM volume was 3.75 cc (0.04-16 cc). The mean marginal dose was 23 Gy with 95% coverage. A total of 253 (80%) patients came for follow-up, but only 196 (62.6%) patients had adequate follow-up, out of which 148 (75.5%) had complete obliteration. AVM volume was the single most significant factor influencing the obliteration rates in AVM. Clinical outcomes were dependent on the AVM volume and modified PF score. Of 107 patients with seizures, 69% (75) were seizure-free. Twenty-two (8.7%) had complications, of which only seven had permanent neurological deficits (five hemiparesis and three visual field defects). The rebleed rate was 5.5% (14 patients).

Conclusion: GKRS remains a safe and effective treatment modality for intracranial AVMs. The AVM volume was the most important factor affecting the obliteration rates and AREs. The AVM volume and modified PF scores were significant factors affecting the clinical outcomes.

Background and aim: The etiological profile of acute febrile encephalopathy (AFE) varies across different geographic areas and in different seasons across the world. Limited literature in children suggests central nervous system (CNS) infections to be the most common cause of AFE in India and developing countries. Most of these studies have been done in the plains of India, and no study has been done in the Himalayan region of northwestern India, where most of the vectors causing AFE in other parts of India, like mosquitoes, are not found. Therefore, this leads to a lacuna in available data on the etiological profile in this region with an elevation of 1000-21,000 ft from the sea level. Our aim was to study the clinical and etiological profile of pediatric AFE and the risk factors associated with mortality in AFE in Himachal Pradesh, a hilly Himalayan state of India located in northwestern Himalayas.

Materials and methods: This was a prospective, descriptive, observational study conducted in the pediatric intensive care unit (PICU) of Indira Gandhi Medical College Shimla, for a period of 1 year, in which all children aged from 1 to 18 years with clinical evidence of AFE and meeting the inclusion criteria were enrolled and studied for the clinical features, etiology, and risk factors for mortality. Chi-square test was used to find the significance of study parameters on a categorical scale between two or more groups. A P value of 0.05 or less was considered as statistically significant.

Results: Sixty-nine patients were enrolled in the study. Fever, altered sensorium, vomiting, seizures, and headache were the most common symptoms. The most common clinical sign was raised ICT, followed by low Glasgow coma scale (GCS). The most common etiology was CNS infections. Among these, scrub encephalitis was the most common cause that was seen in 15.8%, followed by viral and tubercular meningitis in 14.4% and 11.1%, respectively. Eighteen patients out of 69 with AFE died, giving a case fatality rate of 26%. Shock, GCS <8, ventilatory support, MODS, DIC, and delayed presentation were significant risk factors associated with mortality.

Conclusions: Infectious causes attributed maximum to the etiology of AFE, and among them, scrub encephalitis was the most common cause of AFE.

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.