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Evaluation Of Surrogate Markers to Define H3 G34R/V-Mutant Gliomas 评估替代标记物以确定 H3 G34R/V 突变胶质瘤
Pub Date : 2024-01-29 DOI: 10.58624/svoane.2024.05.0126
Samasuk Thammachantha, C. Teerapakpinyo
Background: H3 G34-mutant glioma was a new high-grade glioma, characterized by mutation of histone3.3 codon34. Currently, standard gene sequencing methods are helping in tumor diagnosis, but less expensive and faster H3 G34R/V staining method has not been studied yet in Thailand. Objectives: The purpose of this research is to find surrogate makers for diagnosing this tumor by uncomplicated immunohistochemical method. Methods: Formalin-fixed and paraffin-embedded tissue samples of 30 diffuse hemispheric gliomas were collected H3 G34R, H3 G34V, Olig2, p53 were evaluated using immunohistochemistry. Comparisons of immunohistochemical method and sequencing standard technique were made. Cost-effectiveness was analyzed. Results: Two cases of H3 G34-mutant gliomas were confirmed by mutation analysis. One case was positive for H3 G34V antibody (1/1) while another case was negative for H3 G34R (0/1). The cost-effectiveness showed that the sequencing technique prolonged turnaround time but gave a cost saving 23 USD (17%). Conclusions: G34R and G34V antibodies are not sensitive surrogate markers for diagnosing H3.3 G34-mutant gliomas. However, more samplings are yet to be tested in the future.
研究背景H3 G34突变胶质瘤是一种新的高级别胶质瘤,以组蛋白3.3密码子34突变为特征。目前,标准基因测序方法有助于肿瘤诊断,但泰国尚未研究过成本更低、速度更快的 H3 G34R/V 染色法。研究目的本研究的目的是通过简便的免疫组化方法找到诊断该肿瘤的替代指标。方法:收集 30 例弥漫性半球胶质瘤的福尔马林固定和石蜡包埋组织样本,使用免疫组化方法评估 H3 G34R、H3 G34V、Olig2 和 p53。比较了免疫组化方法和测序标准技术。分析了成本效益。结果两例 H3 G34 突变胶质瘤通过突变分析得到证实。其中一例H3 G34V抗体阳性(1/1),另一例H3 G34R抗体阴性(0/1)。成本效益显示,测序技术延长了周转时间,但节省了 23 美元(17%)的成本。结论G34R 和 G34V 抗体不是诊断 H3.3 G34 突变胶质瘤的敏感替代标记物。不过,未来还需要对更多的样本进行测试。
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引用次数: 0
Hereditary Syndromes Associated with Brain Tumors. Literature Review. 脑肿瘤相关遗传综合征。文献综述。
Pub Date : 2024-01-29 DOI: 10.58624/svoane.2024.05.0127
Enrique Marcos Sierra Benitez
Tumors of the central nervous system (CNS) represent 2% of all neoplasms. Low-prevalence hereditary syndromes constitute only a small proportion of all cases of primary tumors of the central nervous system. Most of these syndromes have autosomal-dominant inheritance, except in the case of Turcot syndrome type 1 which has an autosomal recessive inheritance pattern. It is important in daily neurosurgical practice to be able to recognize these hereditary syndromes in order to apply the best therapeutic alternative in these patients.
中枢神经系统(CNS)肿瘤占所有肿瘤的 2%。低发病率的遗传综合征只占中枢神经系统原发性肿瘤病例的一小部分。除 Turcot 综合征 1 型为常染色体隐性遗传外,这些综合征大多为常染色体显性遗传。在日常神经外科实践中,能够识别这些遗传性综合征,以便对这些患者采取最佳治疗方案非常重要。
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引用次数: 0
Traumatic Brain Injury Deaths in Bauchi, Nigeria: A Single Center One-year Experience 尼日利亚包奇的创伤性脑损伤死亡病例:单中心一年的经验
Pub Date : 2024-01-17 DOI: 10.58624/svoane.2024.05.0125
Olabisi O. Ogunleye, B. S. Makama, Haruna U. Liman, Kefas J. Bwala, Oluchukwu B. Ogunleye
Introduction: Traumatic brain injury is one of the leading causes of hospital admissions with resulting morbidity and mortality. It has become a major health problem in our environment. Mortalities from TBI vary from 10-36 per 100,000 populations and 2% death rate has been reported. The aim of this study was to study the trend of traumatic brain injury deaths within one year in our hospital. Methodology: This was a retrospective study included all deaths from traumatic brain injuries recorded within a year (December 2021 –November 2022) at our facility. The exclusion criteria were deaths from TBI occurred outside our facility but were brought in dead. Results: Forty–two deaths were recorded over a year period following traumatic brain injury (TBI) where 1,045 patients were attended to on account of TBI. The mean age of those that died from TBI was 45±15 and male had more mortality than female with 3:1. Mortality was pronounced more in 4th and 5th decades of life representing 55% of all deaths. Conclusion: TBI related deaths occurred across all age groups and the maximum number of deaths occurred in 41-50 years with Road traffic accident as the leading causes of TBI related deaths. Road safety enforcement, provision of social infrastructure like good road and provision of well-equipped health facilities with neurosurgical services closer to rural communities will reduce the mortality rate from TBI.
导言:创伤性脑损伤是入院治疗的主要原因之一,也是导致发病率和死亡率的主要原因之一。它已成为我们环境中的一个主要健康问题。据报道,创伤性脑损伤造成的死亡率为每 10 万人 10-36 例,死亡率为 2%。本研究的目的是研究本医院一年内创伤性脑损伤死亡的趋势。研究方法:这是一项回顾性研究,包括本院一年内(2021 年 12 月至 2022 年 11 月)记录的所有脑外伤死亡病例。排除标准是在本院以外发生的创伤性脑损伤死亡病例。结果:在一年的时间里,有 42 例因创伤性脑损伤(TBI)死亡的记录,其中有 1,045 名患者因创伤性脑损伤接受了治疗。因创伤性脑损伤死亡的患者平均年龄为 45±15 岁,男性死亡率为 3:1,高于女性。第 4 和第 5 个十年的死亡率较高,占所有死亡人数的 55%。结论与创伤性脑损伤相关的死亡发生在各个年龄段,41-50 岁的死亡人数最多,道路交通事故是造成创伤性脑损伤相关死亡的主要原因。加强道路安全、提供良好的道路等社会基础设施以及在农村社区附近提供设备齐全的医疗设施和神经外科服务将降低创伤性脑损伤的死亡率。
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引用次数: 0
An Interesting Case of Chronic Isolated Apathetic Syndrome 一个有趣的慢性孤立麻木综合征病例
Pub Date : 2024-01-10 DOI: 10.58624/svoane.2024.05.0124
S. Manorenj, Rindha V Rao, Reshma Sultana Shaik
An apathy syndrome is defined as a syndrome of primary motivational loss, that is, loss of motivation not attributable to emotional distress, intellectual impairment, or a diminished level of consciousness. The main anatomical correlate of apathy is the medial frontal lobe. Here we report a case of a 49-year-old male who presented with a history of lack of interest for the past 10 months without any other neurological symptoms. He was diagnosed with depression and was receiving treatment from multiple psychiatrists. In view of his persistent symptoms, he approached us and was evaluated. Examination showed anosmia with apathy that paved the way to the orbitofrontal location of the lesion. Psychiatric symptoms may be an unusual presentation of a space-occupying lesion of brain. Strong suspicion and imaging the brain is indicated in all cases to prevent the unnecessary use of psychiatric medicines and their complications.
冷漠综合征的定义是一种原发性动机丧失综合征,即并非由于情绪困扰、智力受损或意识水平下降而导致的动机丧失。冷漠症的主要解剖相关部位是内侧额叶。在此,我们报告了一例 49 岁男性患者的病例,他在过去 10 个月中一直缺乏兴趣,但没有任何其他神经系统症状。他被诊断为抑郁症,并接受了多名精神科医生的治疗。鉴于他的症状持续存在,我们对他进行了评估。检查结果显示,他有嗅觉障碍并伴有冷漠,这为眶额叶位置的病变铺平了道路。精神症状可能是脑空间占位性病变的异常表现。在所有病例中,都应高度怀疑并进行脑部成像检查,以防止不必要地使用精神科药物及其并发症。
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引用次数: 0
Surgical Outcome of Intraventricular Tumors; A Retrospective Single Center Study in Addis Ababa, Ethiopia 脑室内肿瘤的手术效果;埃塞俄比亚亚的斯亚贝巴单中心回顾性研究
Pub Date : 2024-01-10 DOI: 10.58624/svoane.2024.05.0123
Thomas Bogale Megerssa, R. Mahesparan
Background: Intraventricular tumors (IVT) are rare clinical entities; surgical resection remains challenging for neurosurgeons. Knowledge about the surgical outcome of these tumors in resource-limited settings is scarce. The study aims to do quality control of surgical management of IVT in a single neurosurgical center in Ethiopia. Methods: This study employed a hospital-based retrospective review of 40 patients who underwent surgical treatment for intraventricular tumors (IVT) at Tikur Anbesa Specialized Hospital between January 2015 and December 2020. Descriptive statistics used to evaluate the clinical presentation, imaging, histology, surgical approach, complications, mortality, overall survival and risk factors for poor outcome. Results: The median age was 19 years (range: 1-52 years). Headache was the most common presenting symptom (95%), followed by visual disturbance (65%). Supratentorial tumors accounted for 52.5% of cases, with medulloblastomas being the most frequent subtype (n=11). The overall complication rate was 52.5%, with hydrocephalus (40%) and infections (25%) being the most common postoperative complications. The 30-day operative mortality rate was 27.5%. Risk factors for complications and mortality included infratentorial tumor location, subtotal resection, EVD insertion, and longer ICU stay. Postoperative hydrocephalus independently predicted operative mortality. Conclusion: This study reveals higher complication and mortality rates for Intraventricular tumor (IVT) surgeries, especially for infratentorial tumors. Limited resources and experience contribute to these concerning outcomes. Postoperative hydrocephalus is identified as an independent risk factor for 30-day mortality. The findings highlight the challenges of managing IVT surgically in resource-limited settings, emphasizing the need for serious consideration and proper management to achieve better outcomes.
背景:脑室内肿瘤(IVT)是一种罕见的临床实体肿瘤,手术切除对于神经外科医生来说仍然是一项挑战。在资源有限的情况下,有关这些肿瘤手术效果的知识非常匮乏。本研究旨在对埃塞俄比亚一家神经外科中心的 IVT 手术管理进行质量控制。方法:本研究对2015年1月至2020年12月期间在Tikur Anbesa专科医院接受脑室内肿瘤(IVT)手术治疗的40名患者进行了医院回顾性审查。研究采用描述性统计方法评估了患者的临床表现、影像学、组织学、手术方式、并发症、死亡率、总生存率和不良预后的风险因素。结果:中位年龄为19岁(范围:1-52岁)。头痛是最常见的症状(95%),其次是视力障碍(65%)。脑室上肿瘤占52.5%,髓母细胞瘤是最常见的亚型(11例)。总体并发症发生率为52.5%,最常见的术后并发症是脑积水(40%)和感染(25%)。30天手术死亡率为27.5%。并发症和死亡率的风险因素包括脑室下肿瘤位置、次全切除术、EVD插入以及重症监护室住院时间较长。术后脑积水是预测手术死亡率的独立因素。结论:这项研究显示,脑室内肿瘤(IVT)手术的并发症和死亡率较高,尤其是脑室下肿瘤。有限的资源和经验导致了这些令人担忧的结果。术后脑积水是导致 30 天死亡率的独立风险因素。研究结果突显了在资源有限的环境中进行 IVT 手术治疗所面临的挑战,强调需要认真考虑和妥善管理,以获得更好的治疗效果。
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引用次数: 0
A 19-Month-Old Spanish Boy with Anti-NMDAR Encephalitis: Case Report and Review of Literature 一名 19 个月大的西班牙男孩患有抗 NMDAR 脑炎:病例报告和文献综述
Pub Date : 2024-01-08 DOI: 10.58624/svoane.2024.05.0122
Morales Moreno Antonio Jesús, Castro Rey, Margarita del Carmen, De Felipe Pérez, Morales Albertos Laura, Uribe Reina María del Pilar, Romero del Hombrebueno Gómez del Pulgar Yara, Aldana Villamañán Ignacio, Fernández González Santiago, García Montero María, Alonso Ferrero Jair
Background and Aim: The classic definition of acute encephalitis consists of altered consciousness associated with fever, seizures or focal neurological alterations on neuroimaging or electroencephalography. However, there are particularities that may provide a glimpse of the probably autoimmune versus infectious etiology of the same neurological picture. Case presentation: A 19-month-old male starts with motor clumsiness and refusal to ambulation and leg claudication in the context of febrile pharyngotonsillitis. Simultaneously, first episode of forced gaze’s lateralization and cephalic deviation with right tonic movements and sucking. On examination: intense irritability with no contact, denial-type stereotypies, hemiparetic gait, pronation and adduction of the right arm and foot with frequent stumbling. Results: Neuroimaging tests, electroencephalogram, laboratory tests and antistreptolysin-O were normal, no pathological clinical exome and detection of antibodies in cerebrospinal fluid paired with serum. Such as diagnosis: acute autoimmune encephalitis due to anti-NMDA-R (N-methyl-D-aspartate Receptor) antibodies and movement disorder (choreoathetosis, hemidystonia). We initiate treatment with intramuscular penicillin and oral clobazam with erratic response. Fortunately, high doses of intravenous (iv) corticosteroids and immunoglobulins, oral corticotherapy and iv rituximab on our patient were used. Months later, clear improvement with autonomous ambulation without assistance, adequate manual opening and entire disappearance of dystonic-myoclonic movements. Conclusions: Choreoathetoid movements accompanied by irritability in an infectious context should lead us to think of Sydenham's chorea. However, new developments in the analysis of biological samples and a high index of suspicion may lead us to autoimmune pathology and the consequent early use of immunotherapy with optimal results.
背景和目的:急性脑炎的经典定义是意识改变,伴有发热、癫痫发作或神经影像学或脑电图上的局灶性神经系统改变。然而,在相同的神经系统症状中,也存在一些特殊情况,可能是自身免疫性病因,也可能是感染性病因。病例介绍:一名 19 个月大的男性患者因发热性咽峡炎开始出现运动笨拙、拒绝行走和腿部跛行。同时,首次出现强迫凝视侧位和头偏位,伴有右侧强直运动和吸吮。检查结果:强烈的易激惹性,不与人接触,否认型刻板行为,偏瘫步态,右臂和右脚外展和内收,经常踉跄。检查结果:神经影像学检查、脑电图、实验室检查和抗链霉素-O均正常,无病理临床外显子,脑脊液和血清中检测到抗体。如诊断:抗NMDA-R(N-甲基-D-天冬氨酸受体)抗体引起的急性自身免疫性脑炎和运动障碍(舞蹈症、偏身肌张力障碍)。我们开始使用肌肉注射青霉素和口服氯巴赞治疗,但反应不稳定。幸运的是,我们对患者使用了大剂量静脉注射皮质类固醇和免疫球蛋白、口服皮质类固醇和静脉注射利妥昔单抗。几个月后,患者的病情明显好转,可以在没有辅助的情况下自主行走,可以进行适当的手动张口,肌张力障碍-肌阵挛性运动完全消失。结论是在感染的情况下,伴有烦躁不安的舞蹈样运动应该让我们想到西登翰舞蹈症。然而,生物样本分析的新进展和高度的怀疑指数可能会让我们想到自身免疫性病理,从而及早使用免疫疗法并取得最佳效果。
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引用次数: 0
Fatigue Models and Poststroke Fatigue: A Literature Review 疲劳模型与中风后疲劳:文献综述
Pub Date : 2024-01-02 DOI: 10.58624/svoane.2024.05.0120
Alshimaa Asran
Poststroke fatigue (PSF) is a common complication affecting a wide range of stroke patients, yet it remains under-reported and underestimated. PSF's exact underlying cause has not yet been identified and it seems to be multifactorial, with several models developed to answer that question. Identifying the true nature of PSF and its risk factors would help improve the quality of life of stroke patients.
脑卒中后疲劳(PSF)是一种常见的并发症,影响着众多脑卒中患者,但其报道和估计仍然不足。PSF 的确切病因尚未确定,而且似乎是多因素引起的,目前已开发出多种模型来回答这一问题。确定 PSF 的真正性质及其风险因素将有助于改善中风患者的生活质量。
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引用次数: 0
Utilizing Music Therapy for Enhanced Recovery from Neurologic Disease Complications 利用音乐疗法促进神经系统疾病并发症的康复
Pub Date : 2024-01-02 DOI: 10.58624/svoane.2024.05.0121
S. Bahrami
Neurologic music therapy (NMT) has proven instrumental in aiding recovery from complications in patients with a diverse range of neurologic diseases. Integrating music and virtual reality with standard rehabilitation therapies enhances patient compliance and makes therapy more enjoyable. The act of listening to music not only reduces epileptiform discharges but also amplifies brain plasticity. Moreover, music induces discernible variations in brain anatomy between musicians and non-musicians. As a cost-effective intervention, music therapy significantly contributes to the accelerated and efficient recovery of post-stroke patients, particularly when applied promptly after the event. Substantial evidence supports the integration of music into rehabilitation programs, facilitating the recovery of hand function, dexterity, spatial movement, cognitive function, mood, coordination, stride length, and memory. Techniques such as learning words as lyrics, melodic intonation therapy, and singing play crucial roles in expediting recovery for aphasic patients. Recognized by the World Rehabilitation Federation, NMT therapists are valuable members of the rehabilitation team. The approval of NMT as an effective, evidence-based treatment method underscores its significance in enhancing patient outcomes.
事实证明,神经音乐疗法(NMT)有助于各种神经疾病患者从并发症中恢复过来。将音乐和虚拟现实与标准康复疗法相结合,可提高患者的依从性,并使治疗更加愉悦。聆听音乐不仅能减少癫痫样放电,还能增强大脑的可塑性。此外,音乐还能诱发音乐家和非音乐家之间大脑解剖结构的明显变化。作为一种具有成本效益的干预措施,音乐疗法对中风后患者的加速和高效康复大有裨益,尤其是在中风后及时应用音乐疗法。大量证据表明,将音乐融入康复计划有助于恢复手部功能、灵活性、空间运动、认知功能、情绪、协调性、步幅和记忆力。学习歌词、旋律音调疗法和唱歌等技术在加速失语症患者康复方面发挥着至关重要的作用。NMT 治疗师得到了世界康复联合会的认可,是康复团队的重要成员。NMT 被认可为一种有效的循证治疗方法,这凸显了它在提高患者治疗效果方面的重要作用。
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引用次数: 0
Acute Onset of Creutzfeldt-Jakob Disease Resembling Stroke in Absence of Diagnostic EEG Findings 在没有脑电图诊断结果的情况下,克雅氏病急性发作类似中风
Pub Date : 2023-12-08 DOI: 10.58624/svoane.2023.04.0115
Erika Juliani, Matthew Calestino
We report a case of Creutzfeldt-Jakob disease with acute onset of symptoms with EEG negative for PSWC, resembling a cerebrovascular accident. The patient was diagnosed with sporadic CJD by positive RT-QUIC, positive 14-3-3 protein, T-Tau protein of 14560 pg/mL, brain magnetic resonance imaging (MRI) demonstrating restricted diffusion on DWI in bilateral frontal, temporal, occipital cortex, caudate and putaminal nuclei, as well as T2 FLAIR hyperintensities in the bilateral cerebral cortex and basal ganglia. The entire course of the disease from onset to death was 52 days.
我们报告了一例克雅氏病病例,患者急性发病,脑电图显示 PSWC 阴性,类似于脑血管意外。患者的 RT-QUIC 阳性,14-3-3 蛋白阳性,T-Tau 蛋白为 14560 pg/mL,脑磁共振成像(MRI)显示双侧额叶、颞叶、枕叶皮层、尾状核和普特曼核的 DWI 弥散受限,以及双侧大脑皮层和基底节的 T2 FLAIR 高密度,因此被诊断为散发性克雅氏病。从发病到死亡的整个病程为52天。
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引用次数: 0
Positron Emission Tomography (PET Scan) in NeuronavigationGuided Biopsy of Complex Brain Tumors 正电子发射断层扫描(PET)在神经导航引导的复杂脑肿瘤活检中的应用
Pub Date : 2023-12-01 DOI: 10.58624/svoane.2023.04.0114
César Chong Loor, Andrea Chong Zambrano
Male patient, 38 years old, with a history of previous surgical intervention in another center for brain lesion in the left fronto-parietal region, who had undergone a biopsy, with a result of failed pathological anatomy (he had no diagnosis). In the neurological examination, the patient was conscious, oriented in the three spheres, without neurological deficit, Glasgow 15/15. In the cranial MRI was observed in the left fronto-parietal subcortical region a hypointense lesion on T1, and an irregular hyperintense image in relation to the midline on T2, which did not uptake the contrast medium. Surgical intervention was performed, with a biopsy guided by the neuronavigation system (Brain Lab Curve) using a trephine less than 1 cm and the target planned by fusion of PET scan choline (Positron Emission Tomography) and contrasted cranial MRI, the most representative sample of the lesion was taken where observed the maximum affinity of the lesion for radioactive choline. The Pathological Anatomy result was low grade Astrocytoma, establishing a diagnosis. Control cranial CT scan 6 hours post-operatively, which determined the planned biopsy sample site. The post-surgical evolution was satisfactory, Glasgow 15/15, without neurological deficit. It has been proposed to continue treatment for these cases. In cases of complex lesions where CT and MRI cannot offer adequate resolution through imaging of the lesion, PET scan choline can offer an option to plan an appropriate biopsy of the lesion and obtain representativeness and obtain the best diagnosis. We recommend the use of PET scan in these cases.
患者男,38岁,曾因左额顶区脑病变在另一中心行手术治疗史,行活检,病理解剖失败(无诊断)。神经学检查,患者意识清醒,三球定向,无神经功能缺损,格拉斯哥15/15。头颅MRI显示左侧额顶叶皮层下区T1为低信号,T2为相对中线的不规则高信号,未吸收造影剂。进行手术干预,在神经导航系统(脑实验室曲线)的引导下,使用小于1厘米的穿刺针进行活检,并通过PET扫描胆碱(正电子发射断层扫描)和对比颅MRI融合计划目标,在观察到病变对放射性胆碱最大亲和力的地方取最具代表性的病变样本。病理解剖结果为低级别星形细胞瘤,确定诊断。术后6小时对照颅脑CT扫描,确定计划活检样本位置。术后进展令人满意,格拉斯哥15/15,无神经功能缺损。建议继续对这些病例进行治疗。对于复杂病变,CT和MRI无法通过病变成像提供足够的分辨率时,PET扫描胆碱可以提供一种选择,对病变进行适当的活检,获得代表性,获得最佳诊断。我们建议在这些病例中使用PET扫描。
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引用次数: 0
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SVOA neurology
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