Annals of Indian Academy of Neurology最新文献

{"title":"Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease.","authors":"Hui Zhu, Yi Zhong, Shuyao Zhu","doi":"10.4103/aian.aian_324_24","DOIUrl":"10.4103/aian.aian_324_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"729-731"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745236/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142370818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Correlation Between Electrodiagnostic Severity and Patient-Reported Disability Among Carpal Tunnel Syndrome Patients.","authors":"Gülay Soykök, Emel Güler","doi":"10.4103/aian.aian_241_24","DOIUrl":"10.4103/aian.aian_241_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>The use, easy applicability, and costs of accurate diagnostic tools and their utility for early diagnosis, efficient treatment, and follow-up are important. In this study, we aimed to evaluate how electrophysiologic data were reflected in the clinical data of the patients with carpal tunnel syndrome (CTS).</p><p><strong>Methods: </strong>This study included 102 patients with definitive CTS based on electroneuromyography. The Boston Carpal Tunnel Syndrome Questionnaire (BCTQ), the 36-item Short Form (SF-36) questionnaire of the general quality of life, the Visual Analog Scale (VAS), and the painDETECT (PD-Q) neuropathic pain questionnaire were administered by a clinical practitioner.</p><p><strong>Results: </strong>We found a moderate correlation between electrophysiologic measurements and VAS and a weak correlation between PD-Q scores. When we tested the mean scores of the SF-36 quality of life scale subscales for differences across the CTS groups, we found significant differences in the mean scores of the physical functioning, bodily pain, and social functioning subdomains by disease severity ( P < 0.05 for each). While the BCTQ Symptom Severity Scale (BCTQ-SSS) was predictive of the early stages of CTS, we found that both BCTQ-SSS and BCTQ-Functional Status Scale scores increased in correlation with advanced stage CTS.</p><p><strong>Conclusion: </strong>In addition to the electrophysiological data, self-report measures may help to pursue a multidirectional approach in patient management by acting as a reference for the diagnosis, treatment, and monitoring of CTS. The correlation between objective data and time-saving, practical, subjective measurements can serve as markers to facilitate a diagnosis.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"677-683"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anticoagulation Status and Outcome in Cerebral Venous Thrombosis: A Single-Center Retrospective Study from South India.","authors":"Deepak Menon, Manisha Gupta, Sangeeth Thuppanattumadam Ananthasubramanian, Karthik Kulanthaivelu, Pritam Raja, Subasree Ramakrishnan, Sangeetha Seshagiri Karnam, Jitender Saini, P R Srijithesh, Girish B Kulkarni","doi":"10.4103/aian.aian_359_24","DOIUrl":"10.4103/aian.aian_359_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Early initiation and maintenance of anticoagulation appears to be the mainstay of treatment of cerebral venous thrombosis (CVT), but the evidence supporting the intensity and duration of anticoagulation is limited.</p><p><strong>Methods: </strong>We retrospectively collected data of patients admitted with CVT over a 5-year period, who had a minimum of 6 months of clinical follow-up and three or more prothrombin time international normalized ratio (INR) values spread over 6 months. Data collected included demographic, clinical, and radiologic parameters, anticoagulation status during the follow-up, complications, and clinical status at the last follow-up.</p><p><strong>Results: </strong>We identified 204 patients, and the mean age was 34.4 ± 11.1 years. The majority had a provoked etiology (194, 95.1%) for CVT. After initial anticoagulation with unfractionated heparin, all patients transitioned to acenocoumarol or warfarin and this was maintained for a mean duration of 16.02 ± 11.2 months. Time in therapeutic range of INR 2-3 was only 5.1 ± 11.8 percent days and time spent in an INR of 1-1.5 was 68.7 ± 31.8 percent days. The average INR over 6 months was 1.37 ± 0.33. Duration of follow-up was 18.9 ± 13.25 months, and a good outcome was noted in 183 (89.7%) patients. Complications were seen in 29 (14.2%) patients. Multivariate analysis showed only the CVT grading scale score to be an independent predictor of good outcome.</p><p><strong>Conclusions: </strong>Maintenance of an intensive level of anticoagulation may not be required in patients with CVT and may be particularly true when a transient and treatable risk factor is the provoking etiology.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"657-662"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alteration in EEG Delta and Beta Power During Working Memory Performance Differentiates Patients with Parkinson's Disease with and without Dementia.","authors":"Anita Pal, Madhuri Behari, Ratna Sharma","doi":"10.4103/aian.aian_198_24","DOIUrl":"10.4103/aian.aian_198_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Working memory (WM) impairment is a common and progressive abnormality in Parkinson's disease (PD), which ultimately leads to dementia. Individuals with PD exhibit altered electroencephalogram (EEG) patterns while engaging in tasks that require WM. The study examined the EEG patterns associated with WM maintenance in PD patients.</p><p><strong>Methods: </strong>The study consisted of two groups of PD patients with a sign of dementia (PDD) who had a Mini Mental State Examination (MMSE) score ≤24, PD patients with no sign of dementia (PDND) with an MMSE score >24, and a group of healthy individuals serving as controls (CON). We obtained EEG during a word memorization task using a 128-channel system. The spectral power of the EEG was computed using the fast Fourier transformation algorithm.</p><p><strong>Results: </strong>Compared to both PDND and CON groups, PDD group exhibited higher power in the delta and beta frequency bands. Conversely, there was a notable decrease in power in the gamma band in both the PDD and PDND groups compared to the CON group. In addition, the PDD group exhibited higher power in the gamma band compared to the PDND group. Power in the alpha (LA1, LA2, and UA) and theta bands was greater in PDND and PDD compared to CON, but was similar between PDND and PDD groups.</p><p><strong>Conclusion: </strong>While performing WM tasks, PDD exhibits increased delta and beta power. These findings can be used as a quantitative biomarker to evaluate the severity of initial WM impairments, which could potentially develop into dementia in the future.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"663-667"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-NMDA Receptor Encephalitis Presenting with Prosopagnosia.","authors":"Jayksh Chhabra, Akankshi Oberoi, Shitiz Sriwastava, Rajesh K Gupta","doi":"10.4103/aian.aian_590_24","DOIUrl":"10.4103/aian.aian_590_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"715-716"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Determinants of Caregiver Burden in Stroke Survivors who Underwent Decompressive Craniectomy.","authors":"Karnam Anand, Sai Sirisha, Sanjana Putta, Sudhindra Vooturi, Manas Panigrahi, Sita Jayalakshmi, Subhash Kaul","doi":"10.4103/aian.aian_448_24","DOIUrl":"10.4103/aian.aian_448_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>For stroke survivors (SS) who undergo decompressive craniectomy (DC), quality of life is intertwined with the care they receive. Burden on caregiver becomes an important determinant of recovery of SS. In this study, we aimed to analyze the determinants of burden on caregivers of SS who undergo DC.</p><p><strong>Methods: </strong>Caregivers of 198 SS who underwent DC formed the study population of this prospective observational study. The study was conducted in a tertiary referral unit between September 2019 and March 2021. Caregiver burden was quantified using Zarit Burden Interview. Analysis for association between the reported burden and modified Rankin Scale (mRS) score was done.</p><p><strong>Results: </strong>Mean age of the participants was 47.00 ± 11.2 years. The mRS outcome was poor in SS aged >60 years, Glasgow coma scale (GCS) score at presentation of <8, and in SS with bilateral/dominant hemisphere involvement. Outcome was better when DC was done ≤48 h (74.2% vs. 47.2%, P < 0.001) and if SS were shifted to a rehabilitation unit. Among caregivers, 58% and 16% reported to be always and frequently burdened, respectively; 33.3% of caregivers considered a retrospective review of consent for DC. A higher mRS score was associated with more burden.</p><p><strong>Conclusion: </strong>Early DC and care at rehabilitation unit were associated with better functional outcomes in SS. Nearly 75% of caregivers of patients post-DC reported high burden of providing care to SS, and the burden increased linearly with mRS score.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"647-650"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rituximab in Refractory Myasthenia Gravis - Challenges and Lessons Learnt.","authors":"Karthika A Valaparambil, Soumya Sundaram, Sruthi S Nair","doi":"10.4103/aian.aian_579_24","DOIUrl":"10.4103/aian.aian_579_24","url":null,"abstract":"<p><p>Nearly 10%-15% patients with generalized myasthenia gravis (MG) have refractory disease and are candidates for newer nonconventional immunotherapies. Rituximab has emerged as an attractive option in them. We describe the efficacy and safety of rituximab in 12 patients with refractory MG treated over a period of 4 years in a tertiary care center. We had a female-predominant cohort (10 females) in the age range 10-67 years. There were eight seropositive patients (acetylcholine receptor, muscle-specific kinase, or both antibodies) and eight had undergone thymectomy. Median number of crises was 2 before treatment with rituximab. Sustained improvement at 12 months was seen in seven patients and steroid dose could be reduced in them. Four worsened on therapy (including one death following prolonged ventilation and septicemia). One patient who had no response to therapy was re-evaluated and diagnosed with congenital myasthenic syndrome related to biallelic CHRNE mutation. In summary, nearly two-thirds (7/11, 63.6%) of autoimmune refractory MG in this cohort showed a good response to rituximab.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"706-709"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the Impact of TLR4 rs4986790 Polymorphism on Bacterial Meningitis Risk: A Systematic Review and Meta-Analysis.","authors":"Praveen Kumar Chandra Sekar, Ramakrishnan Veerabathiran","doi":"10.4103/aian.aian_443_24","DOIUrl":"10.4103/aian.aian_443_24","url":null,"abstract":"<p><strong>Background and objectives: </strong>Toll-like receptor ( TLR2 ) gene plays an important role in the pathogenesis of bacterial meningitis (such as meningococcal meningitis and pneumococcal meningitis). The association between TLR4 rs4986790 polymorphism and the susceptibility to bacterial meningitis has been extensively studied. However, the results of these studies remain inconsistent. Therefore, we performed a meta-analysis to evaluate the association between TLR4 rs4986790 polymorphism and the susceptibility to meningococcal meningitis and pneumococcal meningitis.</p><p><strong>Methods: </strong>Google Scholar, Embase, and PubMed databases were searched for case-control studies on TLR4 polymorphisms and the risks of meningococcal meningitis and pneumococcal meningitis, published up to May 31, 2024. To assess the strength of the association between TLR4 polymorphism and meningococcal meningitis and pneumococcal meningitis, the odds ratios (ORs) with 95% confidence intervals (CIs) were used. The meta-analysis of the associations between the TLR4 rs4986790 polymorphism and meningococcal meningitis and pneumococcal meningitis was carried out under different genetic models. Meta-analyses were conducted using Cochrane RoB 2 tool and Metagenyo to calculate the ORs and 95% CIs. Fourteen published studies with 3599 cases and 7438 controls were included.</p><p><strong>Results: </strong>Overall, there was a strong correlation between TLR4 polymorphisms and meningococcal meningitis observed across three genetic models using a random-effects model: GG + GA vs. AA (OR: 0.34, 95% CI: 0.14-0.79, P = 0.01, I ² = 60%); GA vs. AA (OR: 0.34, 95% CI: 0.13-0.91, P = 0.03, I ² = 65%); and GG vs. AA (OR: 0.34, 95% CI: 0.14-0.78, P = 0.01, I ² = 59%). Conversely, a fixed-effects model also revealed a significant association in the G vs. A model (OR: 0.84, 95% CI: 0.73-0.96, P = 0.01, I ² = 38%). In pneumococcal meningitis, a fixed-effects model analysis demonstrated a significant association in the GG vs. AA model (OR: 0.35, 95% CI: 0.14-0.87, P = 0.02, I ² = 48%) respectively.</p><p><strong>Conclusion: </strong>This meta-analysis showed a strong correlation between TLR4 rs4986790 polymorphism and susceptibility to meningococcal meningitis and pneumococcal meningitis. Further studies with diverse populations are needed to validate and strengthen these findings.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"629-637"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Levetiracetam-Induced Parkinsonism: A Short Case Series.","authors":"Thomas Mathew, Amitoj S Chadha, Sita Jayalakshmi, Surabhi Garg, Aditya H Ravindranath, Uday Murgod, Shagun Bhardwaj, Pranjali Ektare, Saji K John, Raghunandan Nadig, Gosala Rk Sarma","doi":"10.4103/aian.aian_430_24","DOIUrl":"10.4103/aian.aian_430_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"742-744"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vision Loss, Deafness, and Ataxia Complicating Bacterial Meningitis: A Rare Pathogen.","authors":"Jomal Mathew, Chris M Antony, V K Smitha","doi":"10.4103/aian.aian_478_24","DOIUrl":"10.4103/aian.aian_478_24","url":null,"abstract":"","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":"748-750"},"PeriodicalIF":1.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11745235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142370819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}