Neurology India最新文献_第8页

A Novel Mutation Associated with Severe Centronuclear Myopathy in a Neonate. 一种与新生儿重度中心核肌病有关的新型突变。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/neurol-india.Neurol-India-D-24-00347

Prabakaran Gangadaran, Sushil Choudhary

引用次数: 0

A Rare Presentation of Glutaric Aciduria Type 1 in an Adult. 成人戊二酸尿症 1 型的罕见病例。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/neurol-india.Neurol-India-D-24-00554

E Chandrasekhar, Divya Nagabushana, Mahendra V Javali

引用次数: 0

Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study. 使用修订诊断标准的 1 型神经纤维瘤病患者的临床和分子特征 - 一项回顾性队列研究。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/ni.ni_744_22

A Rekha, A V Muhammed Sanoop, Sweta Das, Aaron Chapla, Bhairavi Srinageshwari, Anitha Barney, Gautham Arunachalam, Sony Mohan, Sumita Danda

{"title":"Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study.","authors":"A Rekha, A V Muhammed Sanoop, Sweta Das, Aaron Chapla, Bhairavi Srinageshwari, Anitha Barney, Gautham Arunachalam, Sony Mohan, Sumita Danda","doi":"10.4103/ni.ni_744_22","DOIUrl":"10.4103/ni.ni_744_22","url":null,"abstract":"Objective: To catalog and correlate the clinical features and mutational spectrum of neurofibromatosis type 1 (NF1) patients attending a tertiary care center in India.Methods: NF1 patients with confirmed molecular diagnosis from 2014 to 2021 were included in the study. The molecular tests used for the diagnosis were exome sequencing, targeted gene sequencing, and Multiple Ligation Probe Assay.Results: Forty-two clinically diagnosed NF1 patients who had confirmed molecular diagnosis, which is now part of the revised diagnostic criteria, were included in the analysis. Nonsense variants were the most frequently observed (35.71%), followed by frameshift (23.8%), splice site (14.29%), deletion (11.9%), missense (9.5%), and in-frame deletions (4.76%) in our case series. Three variants (c. 5269-1G > C, c. 1541_1542del AG, and c. 6853_6854insA) were identified in more than one patient, suggesting that the variants are widely distributed in the gene and lack any mutational hotspot. This study supports the previous findings that patients with the variant c. 2970_2972delAAT do not develop neurofibromas; however, it was not necessary for those with whole gene deletion to have dysmorphic features as reported by other studies. The study could not establish any correlation between the type of variants and specific clinical features. Around 28% of mutations could be identified by screening exons 14, 28, 37, 46 and intron 37 in this population.Conclusion: This study will contribute to a better understanding of the phenotypic variability of neurofibromatosis patients. The variable expressivity seen in NF1 suggests that modifying genes may be involved in the development of particular clinical features in addition to NF1 mutations.","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"72 6","pages":"1174-1178"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847074","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}

引用次数: 0

Endoscopic Suturing of Skull Base Dura and its Effectiveness in Preventing CSF Leak. 内镜下颅底硬脑膜缝合术及其预防脑脊液漏的效果。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/neurol-india.Neurol-India-D-23-00509

Sushanta K Sahoo, Mayur Gharat, Sivashanmugam Dhandapani

{"title":"Endoscopic Suturing of Skull Base Dura and its Effectiveness in Preventing CSF Leak.","authors":"Sushanta K Sahoo, Mayur Gharat, Sivashanmugam Dhandapani","doi":"10.4103/neurol-india.Neurol-India-D-23-00509","DOIUrl":"10.4103/neurol-india.Neurol-India-D-23-00509","url":null,"abstract":"Proper skull base repair is essential in preventing postoperative cerebrospinal fluid (CSF) leak following endonasal endoscopic skull base surgery. Direct suturing of the skull base dura is desirable but difficult. Here, we discuss the effectiveness of endoscopic suturing of skull base dura in cases of skull base lesions with intraoperative CSF leak. A total of 36 cases (three arachnoid cyst, two Rathke's cleft cyst, two tuberculum sella meningioma, and 29 pituitary adenoma) where dura was sutured endoscopically after endonasal endoscopic excision of lesion were evaluated. Endoscopic suturing was categorized in to three types (type 1 - dura with tumor excised and single suture placed across the anterior tuberculum sella dura to clival dura, type 2 - dura excised partially and repaired with multiple interrupted sutures, type 3 - dura was completely intact at the end of surgery and closed with interrupted suture). Type 1 dura closure was performed in eight cases, type 2 in 16 cases, and type 3 in 12 cases. Two patients with type 1 closure had CSF leak in the postoperative period and managed with lumbar puncture. None of the other patients had CSF leak after surgery. Direct suturing of the skull base dura is effective in preventing postoperative CSF leak. Even a single suture is able to hold the fat graft in place and provides sufficient support against pulsatile CSF flow and thereby reduces the incidence of postoperative CSF leak.","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"72 6","pages":"1263-1266"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847179","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}

引用次数: 0

NEQSTENT-Assisted Coiling of Left MCA Bifurcation Aneurysm: A Novel Device. neqstent辅助卷绕左MCA动脉瘤分叉：一种新型装置。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/neurol-india.Neurol-India-D-24-00328

Deepak Kumar Singh, Prevesh Kumar Sharma, Neha Singh, Kuldeep Yadav, Mohammad Kaif, Vineet Kumar Mishra, Vipin Kumar Chand

引用次数: 0

Anterior Interhemispheric Approach - A Multidimensional Gateway. 半球间前路--多维通道。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/neurol-india.neurol-india_101_24

Sanjeev Kumar

引用次数: 0

Cognitive Retraining for Low Resource and Literacy Settings-Protocol Needed. 低资源和识字环境下的认知再训练--需要制定方案。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/neuroindia.NI_778_20

Jitin Bajaj, Yad Ram Yadav

引用次数: 0

Interbody Fusion: Are We Posing the Right Questions or Simply Caught up in Abilene Paradox? 体间融合：我们提出了正确的问题还是仅仅陷入了阿比林悖论？

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/neuroindia.NI_1157_20

Rajasekhar Narayanan, Sivashanmugam Dhandapani

引用次数: 0

Geriatric Traumatic Brain Injury: An Attempt to Predict Outcome Using a Nomogram. 老年外伤性脑损伤：利用脑图预测预后的尝试。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/ni.ni_450_22

Abhyuday Visen, Jinendra K Ramalingam, Ponraj K Sundaram

{"title":"Geriatric Traumatic Brain Injury: An Attempt to Predict Outcome Using a Nomogram.","authors":"Abhyuday Visen, Jinendra K Ramalingam, Ponraj K Sundaram","doi":"10.4103/ni.ni_450_22","DOIUrl":"10.4103/ni.ni_450_22","url":null,"abstract":"Background and objectives: With improving life expectancy, the proportion of geriatric patients is steadily increasing in the population and traumatic brain injury (TBI) in the elderly is becoming a problem demanding increasing attention from the health community. We attempted to identify factors that correlate with the outcome (as measured by the Glasgow Outcome Scale [GOS]) in elderly patients with TBI and make a prognostic model.Materials and methods: A prospective analysis of 220 consecutive TBI patients aged ≥60 years admitted at our hospital was performed. Data about demography, comorbidities, mode of injury, clinico-radiological features, associated injuries, medical/surgical complications, and outcome was analyzed. Patients without imaging findings of TBI and patients with chronic subdural hematoma (SDH) and lesional intracranial hemorrhage were excluded.Results: The mean age of patients was 69.17 years, with 70.9% being males. Motor vehicle accidents (44%) and ground-level falls (43.7%) were the most common modes of injury. Antiplatelets and anticoagulants were being taken by 14.6% and 1.8% of patients, respectively. Out of 220 patients, 124 patients had mild, 48 had moderate, and 48 had severe head injuries. Median Rotterdam score (RS) was 2. Forty-one patients underwent surgery. The outcome was favorable (GOS 4-5) in 54.1% and unfavorable (GOS 1-3) in 45.9% of patients, with the overall mortality at the end of 1 month being 30.9%. On multivariate regression analysis, Glasgow Coma Scale (GCS), RS, and coagulation abnormality were found to be independent prognostic factors; these three variables were then used to design a nomogram.Conclusion: In the absence of specific geriatric TBI prognostic models, a nomogram using GCS, RS, and coagulation abnormality can be used as a prognostic model.","PeriodicalId":19429,"journal":{"name":"Neurology India","volume":"72 6","pages":"1199-1206"},"PeriodicalIF":0.9,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847241","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}

引用次数: 0

Isolated Shoulder Weakness as a Manifestation of Acute Ischemic Stroke: A Rare Presentation. 孤立性肩无力是急性缺血性中风的一种罕见表现。

IF 0.9 3区医学

Neurology India Pub Date : 2024-11-01 Epub Date: 2024-12-17 DOI: 10.4103/neuroindia.NI_1015_20

Tanu Arora, S Sakthi Velayutham, P R Sowmini, K Mugundhan

引用次数: 0