Neurology India最新文献

{"title":"Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.","authors":"Hari Shankar Kumar, Nidhi Shah, Parth Shah, Udhaya Kotecha, Mehul Mistri, Bushra Jarullah","doi":"10.4103/neurol-india.Neurol-India-D-24-00552","DOIUrl":"10.4103/neurol-india.Neurol-India-D-24-00552","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia type 3 (SCA3) is a neuromuscular disorder (NMD) that is a complicated and progressive genetic disorder. SCA3 is predominantly caused by repeat expansions (REs) of short tandem repeats (STRs). SCA3 is caused by a CAG repeat expansion of the ATXN3 gene and is transmitted in an autosomal dominant manner and located on chromosomal position 14q32.</p><p><strong>Objective: </strong>The objective of this study was to identify the ATNX3 gene and assess the clinical accuracy of whole genome sequencing (WGS) in finding REs in previously undiagnosed patients with SCA3 for better management.</p><p><strong>Methods and materials: </strong>Thirty-three referral cases for SCA3 were analyzed using WGS and triplet-repeat PCR (TP-PCR) techniques to detect REs for the ATXN3 gene.</p><p><strong>Results: </strong>A case of SCA3 was discovered to be positive for the ATXN3 gene for 59 CAG REs revealed by WGS and validated by TP-PCR. This mutation was found in a 26-year-old male patient who had previously been undiagnosed by other genetic tests.</p><p><strong>Conclusion: </strong>To identify REs in the ATXN3 gene by validating WGS with previously inconclusive genetic tests, the study propose that WGS could potentially be implemented as the frontline, cost-effective, less turnaround time molecular testing for more accurate diagnoses and better-informed treatment strategies.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":" ","pages":"513-518"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Outlandish Brain Tumor: Case of the Rare Intracranial Chondrosarcoma.","authors":"Shreya Shukla, Arpita Sahu, Epari Sridhar","doi":"10.4103/ni.ni_517_22","DOIUrl":"10.4103/ni.ni_517_22","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":" ","pages":"623-626"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Delayed Unexpected Isolated Cerebral Fat Embolism.","authors":"Abhishek Mishra, Shalendra Singh, K G Ashwath, Ankit Mathur","doi":"10.4103/neurol-india.Neurol-India-D-24-00713","DOIUrl":"10.4103/neurol-india.Neurol-India-D-24-00713","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":" ","pages":"573-574"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vertebral Artery Dissection: A Differential for Childhood Stroke.","authors":"Sahana Devadas, Niharika Shetty, K Mallesh","doi":"10.4103/neuroindia.NI_702_20","DOIUrl":"https://doi.org/10.4103/neuroindia.NI_702_20","url":null,"abstract":"<p><p>Vertebral artery dissection is one of the common causes of childhood stroke. It can be either spontaneous or traumatic. It commonly occurs after a strenuous exercise. Clinical examination will not provide any evidence of the condition as the condition may be asymptomatic or present with only mild symptoms. The gold standard for detection is angiography. The treatment involves antithrombotic medications. Here we present the case of a 16-year-old female child who presented with sudden onset of paralysis secondary to vertebrobasilar ischemic stroke due to arterial dissection.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 3","pages":"544-545"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coccygeal Vertebral Tuberculosis.","authors":"Chandramouli Bhattacharya, Tanmay Mukherjee, Sayan Das, Prasad Krishnan","doi":"10.4103/ni.ni_96_22","DOIUrl":"https://doi.org/10.4103/ni.ni_96_22","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 3","pages":"584-586"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of Hippocampal Avoidance Whole Brain Radiotherapy to Preserve the Cognitive Functions among Brain Metastasis Patients: Systematic Review and Meta-analysis.","authors":"Haripriya P Surendran, Sujit K Sah, Priyadharshini Veeralakshmanan, Pranav Nair, Hema P Ashok, Mazhuvancherry K Unnikrishnan, Sruthi Kalavagunta, Ajay Sasidharan, Dhanya Chandran, Narmadha M Poornachary, Debnarayan Dutta","doi":"10.4103/neurol-india.Neurol-India-D-24-00727","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-24-00727","url":null,"abstract":"<p><p>This systematic review and meta-analysis aims to gather credible sources of comprehensive information on the efficacy and radiation dose (maximum and minimum) to the hippocampus and contouring area to prevent cognitive dysfunction by hippocampal avoidance whole brain radiation therapy (HA-WBRT). This comprehensive review was conducted in compliance with PRISMA guidelines. The systematic literature search was performed across four databases including pubmed®, Scopus®, Cochrane Library®, and clinicaltrial.gov.in from inception until December 31, 2023. A total of nine eligible studies were selected encompassing a total of 680 patients with brain metastases who underwent radiation therapy. Notably, radiation exposure to the hippocampal area (3 to 7 mm margin) was avoided during whole-brain radiation therapy (WBRT). The maximum dose delivered to the hippocampus varied between 12.61 Gy and 17 Gy in different studies with minimum doses varying from 5.38 Gy to 10 Gy. HA-WBRT significantly preserves delayed recall compared to WBRT (p = <0.001, P = <0.001, <0.001 and P = 0.048), with an effect size (SMD: -0.57, 95% CI: -1.27, 0.12, P = 0.59, I2 = 0%) favoring HA-WBRT. However, the changes in psychomotor speed, visuospatial abilities, executive function, verbal fluency, and so on were not statistically significant between HA-WBRT and WBRT groups. This review underscores the significant positive impact of HA-WBRT in preventing radiation-induced neurocognitive dysfunction in brain metastatic patients, particularly in delayed recall. However, comprehensive cognitive preservation necessitates additional interventions alongside HA-WBRT.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 3","pages":"429-445"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Hemodynamic Changes During Large-Volume Plasmapheresis with a Non-Invasive Cardiac Output Monitor in Patients with Neurological Disease: A Prospective Cohort Study.","authors":"Shweta Naik, Mathangi Krishnakumar, Amruta Nirale, V Bhadrinarayan, Francis Joseph","doi":"10.4103/neurol-india.Neurol-India-D-24-00199","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-24-00199","url":null,"abstract":"<p><strong>Introduction: </strong>Therapeutic large-volume plasmapheresis (LVP) effectively manages neurological diseases, such as Guillain-Barre syndrome (GBS) and myasthenia gravis (MG), but it induces alterations in intravascular volume, necessitating vigilant monitoring. This study investigated the hemodynamic changes and the utility of non-invasive cardiac output monitoring (NICOM) during LVP.</p><p><strong>Methods: </strong>This prospective observational study included 50 neurological patients receiving their first LVP cycle. Standard monitoring of heart rate (HR), non-invasive blood pressure (NIBP), pulse oximetry (SpO2), and cardiac output (CO) using NICOM was performed. Changes in HR, NIBP, CO, total peripheral resistance (TPR), stroke volume (SV), and stroke volume variation (SVV) were recorded at baseline and multiple time points during LVP.</p><p><strong>Results: </strong>The mean age was 36 ± 15.05 years. The mean arterial pressure (MAP) significantly decreased from baseline at 30 and 60 minutes, and LVP completion (P < 0.05). While HR and systolic/diastolic blood pressure (SBP/DBP) remained stable, SV, CO, and cardiac index (CI) significantly decreased (P < 0.05), peaking at 60 minutes. TPR significantly increased (P < 0.05) with a maximum of 30 minutes. The volume of plasma removed directly influenced CO, CI, and SV changes (P < 0.05).</p><p><strong>Discussion: </strong>LVP induced transient hemodynamic alterations, primarily affecting CO and TPR. Despite fluid replacement, significant changes occurred, highlighting the need for close CO monitoring, especially in GBS patients with potential autonomic dysfunction.</p><p><strong>Conclusion: </strong>LVP significantly alters hemodynamics, impacting CO and TPR. Standard monitoring might miss these changes, emphasizing the importance of NICOM, particularly in neurological patients. Further research is warranted to solidify NICOM's role in optimizing LVP protocols and improving patient outcomes.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 3","pages":"480-487"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Continuous Non-Invasive Hemoglobin Monitoring on Red Blood Cell Transfusion During Decompressive Craniotomy for Acute Brain Injury: A Randomized Control Study.","authors":"Geetha Lakshminarasimhaiah, Seham Syeda, Sonika Shivakumar, Ayesha Khavas, Thrupthi Ramesh, Roshika Gopalakrishnan, Saurabh S Almelkar, Teja Pagadala","doi":"10.4103/neurol-india.Neurol-India-D-24-00084","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-24-00084","url":null,"abstract":"<p><strong>Background: </strong>Evidence suggests that liberal transfusion and anemia correction have negative effects on patients with acute brain injuries (ABI). Such patients with indications for decompressive surgeries require precise and real-time monitoring technology for estimation of intraoperative hemoglobin in order to assess the need for transfusion.</p><p><strong>Aims: </strong>The primary objective was to evaluate non-invasive hemoglobin (SpHb) monitoring as a guide for red blood cell transfusion (RBCT) during emergency decompressive craniotomy in ABI patients. The secondary objectives were to evaluate the incidence of postoperative infections, length of ICU stay, duration of mechanical ventilation, 30-day mortality, and extended Glasgow outcome scale (E-GOS) score at 90 days.</p><p><strong>Methods and material: </strong>Eighty patients (aged 18-65) with ABI requiring decompressive surgery were randomized into two groups of 40 patients each: group A (SpHb monitoring group) and group B (standard care group). They were compared for RBCT management, and postoperative infections, ventilator days, length of stay in ICU, E-GOS, and mortality. RESULTS: The number of patients requiring a single RBCT was significantly higher in group A as compared to Group B (P < 0.0001). However, patients requiring two transfusions and the total volume of RBCT were higher in group B (P < 0.01). Three or more RBCT were required only in Group B (P 0.07). The duration of mechanical ventilation was higher in group B as opposed to group A (P 0.07). However, there was no significant difference in the hemodynamic variables between the two groups.</p><p><strong>Conclusions: </strong>The inclusion of continuous SpHb monitoring during decompressive procedures in ABI patients may assist in the optimal management of blood transfusion, thereby reducing transfusion-related complications.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 3","pages":"463-468"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insights into Diabetes Muscle Infarction: Clinical Characteristics and Outcome.","authors":"Vaibhav Singhal, Jeyakumar Meyyappan, Neeraj Jain, Dharmendra Bhadauria, Preeti Dabadghao, Sushil Kumar Gupta, Subhash Chandra Yadav","doi":"10.4103/neurol-india.Neurol-India-D-23-00672","DOIUrl":"https://doi.org/10.4103/neurol-india.Neurol-India-D-23-00672","url":null,"abstract":"<p><strong>Background: </strong>Diabetes muscle infarction (DMI) is a common misdiagnosed and under-reported diabetes complication. This causes a delay in diagnosis, which increases the morbidity of the disease.</p><p><strong>Objective: </strong>To review all cases of DMI and its pathogenesis, clinical features, prognostic implications, and management.</p><p><strong>Methods: </strong>We retrospectively analyzed 12 DMI patients diagnosed in the past 15 years. We investigated the disease's clinical characteristics, laboratory results, imaging features, therapies, and prognostic progression.</p><p><strong>Result: </strong>DMI patients were diagnosed at a mean age of 50 years (range: 33-78 years), were predominantly males (n = 7), and 11 (92%) had type 2 diabetes. They had diabetes for a long time (mean duration 12.6 years). Almost all the patients had nephropathy, neuropathy, or retinopathy. Before presentation, these patients had been symptomatic for an average of 50 days (range: 10-120 days). Most patients presented with unilateral lower limb swelling, local pain and tenderness, and a raised temperature, as well as severe motion-dependent pain. The quadriceps muscle was the most affected, with only one patient experiencing upper limb involvement. On T2W, MRI revealed heterogeneously enlarged muscles with post-contrast enhancement; post-contrast scans revealed multiple focal hypo-enhancing areas, indicating myonecrosis. All the patients were managed conservatively with a good short-term prognosis.</p><p><strong>Conclusion: </strong>When a patient presents with a painful, tender lump in the lower limb without a history of trauma, DMI should be strongly suspected. MRI findings are diagnostic, and no biopsy is required. Due to multiple comorbidities, these patients are typically managed conservatively, with a good short-term but poor long-term prognosis.</p>","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"73 3","pages":"500-505"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Report of Three Cases of Persistent Hypoglossal Artery with Associated Anomalies and a Review of Literature.","authors":"Krishnan Nagarajan, Mohan Amuthabharathi, Subathra Adithan, Mahadevan S Gowtham","doi":"10.4103/ni.ni_127_22","DOIUrl":"10.4103/ni.ni_127_22","url":null,"abstract":"","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":" ","pages":"627-630"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}