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Case Report: Duchenne Muscular Dystrophy in a 6-Year-Old Boy 病例报告:1例6岁男孩杜氏肌营养不良症
Pub Date : 2021-06-25 DOI: 10.11648/J.CNN.20210503.11
Christin Natalia Kalembang, I. Suwarba, Dewi Sutriani Mahalini, H. Saputra
Duchenne Muscular Dystrophy (DMD) is an X-link reccessive disorder, caused by mutation in dystrophin gene. Therefore body is incapable to synthesize dystrophin, the protein needed for muscle contraction. The incidence of DMD 1: 4000 male with age 3 to 5 years. Furthermore the patient will experience functional decline, loss of ambulation and early death due to cardiac or respiratory failure. Patient will be unable to walk at the beginning of second decade and usually decease at the age of 20s. Hereby we reported a male, 6-years-old presented with weakness on both of his legs. Patient had history of recurrent falls while walking and difficulty to climb stairs since 3-years-old. Patient also had difficulty to stand up immediately from sitting position. He had to grab his feet in order to make climb movement before stand up. Physical examination showed pseudo hypertrophy of calf muscle and positive Gower Maneuver. Laboratory examination showed creatinin kinase 16.891 (about 113 times higher than normal value). EMG revealed lesion of the muscle. Biopsy was taken from left muscle gastrocnemius and showed variability of muscle size without regeneration and fibrosis. The result of genetic test showed deletion of Dp427c and exon 1-2 of dystrophin gen. After been treated with corticosteroid for a year, the patient showed improvement in his gait moreover the weakness on both of his legs has became lessen. We emphasized the importance of early and accurate diagnosis of DMD for better quality of life.
杜氏肌营养不良症(DMD)是一种由肌营养不良蛋白基因突变引起的x连锁隐性疾病。因此,身体无法合成肌肉收缩所需的蛋白质——肌营养不良蛋白。3 ~ 5岁男性DMD发病率为1:4 000。此外,患者还会出现功能衰退、行动不便和因心脏或呼吸衰竭而过早死亡。患者将在第二个十年开始时无法行走,通常在20多岁时死亡。我们在此报告一名男性,六岁表现为双腿无力。患者自3岁起有行走时反复跌倒及爬楼梯困难的病史。患者也难以立即从坐姿站起来。在站起来之前,他必须抓住自己的脚才能做出攀爬的动作。体格检查显示小腿肌肉假性肥大,高尔机动阳性。实验室检查示肌凝素激酶16.891,比正常值高约113倍。肌电图显示肌肉病变。左腓肠肌活检显示肌肉大小变化,无再生和纤维化。基因检测结果显示Dp427c和肌营养不良蛋白1-2外显子缺失。经皮质类固醇治疗一年,患者步态改善,双腿无力减轻。我们强调早期准确诊断DMD对提高生活质量的重要性。
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引用次数: 0
Recurrence of Strokes and Associated Factors at Laquintinie Hospital in Douala 杜阿拉laquininie医院卒中复发及相关因素
Pub Date : 2021-06-25 DOI: 10.11648/J.CNN.20210503.12
P. Mbonda, Daniele Mafo, J. Doumbe, C. Kuate
OVERVIEW: Stroke is the second leading cause of death in the world and the leading cause of non-traumatic disability in adults. Although the incidence of stroke has steadily declined in developed countries, the incidence in low- and middle-income countries like Cameroon continues to grow, accounting for 85% of the global burden of stroke. Whenever a stroke occurs, the patient, the patient's family and the physician want to know the risk of recurrence, its severity and the possibility of prevention. Few studies have focused on stroke recurrences and factors associated with Cameroon. OBJECTIVE: To determine the prevalence of recurrent stroke and the factors associated with Laquintinie Hospital in Douala. METHODOLOGY: We conducted a two-year retrospective study from January 1, 2016 to December 31, 2017 and five-month cross-sectional prospective from January 1, 2018 to May 31, 2018 at Laquintinie Hospital in Douala. Included were all patients hospitalized for stroke. RESULTS: We recruited 528 stroke patients, including 75 recidivists with a recurrence prevalence of 14.20%. The average age of recidivism was 65.82±12.75 years and 70.6% female. Factors statistically associated with recurrence were an antecedent of hypertension (OR=038 [0.152-0.98], P=0.045), the ischemic type of first stroke (OR=2.32 [1.04-5.17] P=0.04); females (OR=2.052 [1.20-3.4921]; P=0.007) and poor treatment compliance after first stroke (OR=0.399 [0.160-0.99] P=0.042). CONCLUSION: About 1 out of 6 (14.2%) survivors of a first stroke have recurrent stroke over the next 2 years at Laquintinie Hospital in Douala. The predictive factors for recurrence in this study were a history of hypertension, the ischemic type of stroke, female gender, and poor adherence to secondary prevention measures.
概述:中风是世界上第二大死亡原因,也是成人非创伤性残疾的主要原因。尽管发达国家的中风发病率稳步下降,但喀麦隆等低收入和中等收入国家的发病率继续增长,占全球中风负担的85%。每当发生中风时,患者、患者家属和医生都希望了解其复发的风险、严重程度和预防的可能性。很少有研究关注中风复发和与喀麦隆相关的因素。目的:了解杜阿拉市拉昆蒂尼医院卒中复发率及其相关因素。方法:我们于2016年1月1日至2017年12月31日在杜阿拉Laquintinie医院进行了为期两年的回顾性研究,并于2018年1月1日至2018年5月31日进行了为期5个月的横断面前瞻性研究。包括所有因中风住院的患者。结果:纳入528例脑卒中患者,其中75例为累犯,复发率为14.20%。累犯平均年龄65.82±12.75岁,女性占70.6%。与复发相关的因素有高血压(OR=038 [0.152-0.98], P=0.045)、首次卒中的缺血性类型(OR=2.32 [1.04-5.17] P=0.04);女性(OR=2.052 [1.20-3.4921];P=0.007)和首次卒中后治疗依从性差(OR=0.399 [0.160-0.99] P=0.042)。结论:在杜阿拉Laquintinie医院,6例首次中风幸存者中约有1例(14.2%)在接下来的2年内再次发生中风。在这项研究中,复发的预测因素是高血压史、缺血性卒中类型、女性和二级预防措施依从性差。
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引用次数: 0
Assessment of the Quality of Life in Patients with Epilepsy in the Populous Region of Baku 巴库人口稠密地区癫痫患者生活质量评估
Pub Date : 2021-06-07 DOI: 10.11648/j.cnn.20210502.17
Asadova Ulker Asker
An article establishes assessment of quality of life, severity of seizures and emotional condition 117 patients with epilepsy, over the age of 18 (35.13±1.19) with different form epilepsy what started from 0 to 69 years (14.22±1.26) in the Machtagа village. How showed analyzes of the survey results, the patients sub clinic 62 (52.9%) and clinic 29 (24.8%) pronounced measure depression and anxiety from scale Ziqmond and high measure severity of seizures from national hospital seizure severity scale (NHS3) (20-27 scores bу 54 (46.1%), (3-9 scores by 40 (34.2%) patients, adversely affecting to their quality of life, assessment by questionnaire «QOLIE-10» (27.1±0.3). Social status research revealed a high patients unemployment rate (82 (70.1%) p=0.911). Between 70 (59.8%) disability patients most had secondary group (р=0.938). The number of lower secondary education and uneducated patient prevailed among native (28 (36.8%)/7 (9.2%)) and nonnative (11 (26.8%)/4 (9.8%)) village population (р=0.547). In population research 65 (55.6%) patients were married, 52 (44.4%) patients were alone (р=0.386). During the study it was revealed influence of ethnocultural characteristics patients to measure quality of life. A form of expression of religious beliefs, which, in the form of a clear implementation of the established religious rules, had a positive effect on the quality of life of patients from the hunhar and kechan mehelle, and mysticism in relation to religion, a form of upbringing in a family without encouraging intellectual development, and even prohibitions on obtaining an education, contributed to the formation passive personality with disabilities among patients from seidler mehelle, which affected their QOL negatively.
本文对马奇塔格村117例年龄在18岁以上(35.13±1.19)岁,年龄在0 ~ 69岁(14.22±1.26)岁的不同类型癫痫患者的生活质量、癫痫发作严重程度和情绪状况进行了评估。调查结果显示,亚临床62例(52.9%)和临床29例(24.8%)患者在Ziqmond量表中表现为抑郁和焦虑,在国家医院癫痫发作严重程度量表(NHS3)中表现为癫痫发作严重程度高(20-27分)(46.1%),在QOLIE-10量表中表现为癫痫发作严重程度高(3-9分)(34.2%),对患者生活质量有不良影响,采用问卷“QOLIE-10”进行评估(27.1±0.3)。社会地位调查显示患者失业率高(82 (70.1%)p=0.911)。70例残疾患者中以继发组居多(59.8%)(χ =0.938)。在本村人口(28人(36.8%)/7人(9.2%))和非本村人口(11人(26.8%)/4人(9.8%))中,初中教育程度和未受教育程度的患者较多(χ =0.547)。人群研究中已婚65例(55.6%),单身52例(44.4%)(χ =0.386)。在研究中揭示了民族文化特征对患者生活质量的影响。一种宗教信仰的表达形式,以明确执行既定宗教规则的形式,对来自hunhar和kechan mehelle的患者的生活质量产生了积极影响,而与宗教有关的神秘主义,一种不鼓励智力发展的家庭教育形式,甚至禁止接受教育,促成了seidler mehelle患者中被动人格的形成。这对他们的生活质量产生了负面影响。
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引用次数: 0
Neutrophil-Lymphocyte Ratio as a Predictor of Bacterial Meningitis in Children 中性粒细胞-淋巴细胞比率作为儿童细菌性脑膜炎的预测因子
Pub Date : 2021-06-04 DOI: 10.11648/j.cnn.20210502.16
Ferry Yulianto, Dewi Sutriani Mahalini, I. Suwarba
Diagnosis of bacterial meningitis in children is difficult. Both bacterial and aseptic meningitis have identical clinical presentation. Cerebrospinal fluid (CSF) analysis and microbacterial culture are modalities to help physician distinguishing between both of them. However, lumbar puncture procedure to gain CSF sample could not always be done due to contraindications or clinically unstable condition. Blood Neutrophil Lymphocyte Ratio (NLR) examination has a potential biomarker to differentiate causes of meningitis when CSF sample cannot be obtained, especially in the early phase of disease. This study’s objective is to determine whether the NLR value can be used as a predictor of bacterial meningitis in children. The research design was cross-sectional. Data was taken retrospectively by reviewing medical records at Sanglah Hospital, Denpasar for the period January 2017 to December 2020. Data taken were age, sex, leukocyte, neutrophils, lymphocytes count and cerebrospinal fluid culture. Analysis of NLR in conjunction with bacterial and aseptic meningitis was carried out. During the study period, a total of 100 data samples were obtained, 58 subjects were male and 42 female subjects. Non-bacterial meningitis and aseptic meningitis were found in 62 cases, while bacterial meningitis with positive CSF culture results was found in 38 cases. ROC curve analysis showed the optimal cut-off value for NLR was 5.64 which resulted in a sensitivity of 0.84 and a specificity of 0.51. The Area Under the Curve (AUC) value for the NLR was 0.67 (CI95% 0.56-0.78, p=0,003) with positive and negative predictive values being 0.41 (0.28-0.54) and 0.63 (0.56-0.7), respectively. NLR ≥5.64 can be used as one of the predictors for diagnosing bacterial meningitis in children.
儿童细菌性脑膜炎的诊断是困难的。细菌性和无菌性脑膜炎具有相同的临床表现。脑脊液(CSF)分析和微生物培养是帮助医生区分两者的方法。然而,由于禁忌症或临床条件不稳定,腰椎穿刺获得脑脊液样本并不总是可行。当无法获得脑脊液样本时,特别是在疾病的早期阶段,血液中性粒细胞淋巴细胞比率(NLR)检查具有鉴别脑膜炎原因的潜在生物标志物。本研究的目的是确定NLR值是否可以作为儿童细菌性脑膜炎的预测指标。本研究采用横断面设计。通过回顾登巴萨Sanglah医院2017年1月至2020年12月期间的医疗记录,回顾性获取数据。采集的数据包括年龄、性别、白细胞、中性粒细胞、淋巴细胞计数和脑脊液培养。对NLR合并细菌性和无菌性脑膜炎进行分析。在研究期间,共获得100份数据样本,其中男性58名,女性42名。非细菌性脑膜炎和无菌性脑膜炎62例,脑脊液培养阳性的细菌性脑膜炎38例。ROC曲线分析显示,NLR的最佳临界值为5.64,敏感性为0.84,特异性为0.51。NLR的曲线下面积(AUC)值为0.67 (CI95% 0.56 ~ 0.78, p= 0.003),阳性预测值为0.41(0.28 ~ 0.54),阴性预测值为0.63(0.56 ~ 0.7)。NLR≥5.64可作为诊断儿童细菌性脑膜炎的预测指标之一。
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引用次数: 0
A Case of Refractory Absence Epilepsy Precedes Anti-MOG Associated Optic Neuritis 抗mog相关性视神经炎前难治性癫痫缺失1例
Pub Date : 2021-05-27 DOI: 10.11648/j.cnn.20210502.15
Katharina Blunschi, P. Avasarala, J. Schreiber, Neha Athale, I. Kahn, T. Lateef
Childhood absence epilepsy (CAE) is one of the most common forms of pediatric epilepsy. While most patients become seizure free with anti-epileptic drug therapy approximately 20% do not achieve seizure remission and are defined as having refractory CAE. Epilepsy is generally thought of as a grey matter disease but has also been associated with abnormal white matter. Optic neuritis (ON), on the other hand, is typically a white matter disorder characterized by inflammation and demyelination of the myelin sheath due to autoantibodies, such as the anti-myelin oligodendrocyte glycoprotein (MOG) antibody. We present the case of an 11-year-old female with refractory CAE who developed anti-MOG antibody positive ON. CAE and ON are not commonly co-morbid and to our knowledge their co-occurrence in a patient has not been previously described. However, in this case, the CAE and ON may be related as her seizures dramatically improved after initiating immunomodulatory treatments for the ON. This may indicate a relationship between ON (potentially specific to anti-MOG positive ON) and CAE, or may suggest that there is an inflammatory component to CAE and that immunomodulatory therapies may have a role in seizure control. Thus, in cases of treatment resistant absence epilepsy, an immune work up may be helpful.
儿童期缺失性癫痫(CAE)是儿童癫痫最常见的形式之一。虽然大多数患者在抗癫痫药物治疗后无癫痫发作,但约20%的患者未达到癫痫发作缓解,并被定义为难治性CAE。癫痫通常被认为是一种灰质疾病,但也与白质异常有关。另一方面,视神经炎(ON)是一种典型的白质疾病,其特征是由自身抗体引起的髓鞘炎症和脱髓鞘,如抗髓鞘少突胶质细胞糖蛋白(MOG)抗体。我们提出的情况下,11岁的女性难治性CAE谁发展抗mog抗体阳性ON。CAE和ON通常不是合并症,据我们所知,它们在患者中的合并症以前没有被描述过。然而,在本例中,CAE和ON可能相关,因为她的癫痫发作在对ON进行免疫调节治疗后显着改善。这可能表明ON(可能针对抗mog阳性ON)和CAE之间的关系,或者可能表明CAE存在炎症成分,免疫调节疗法可能在癫痫发作控制中起作用。因此,在治疗难治性癫痫缺席的情况下,免疫工作可能是有帮助的。
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引用次数: 0
Neuropaludism in Children: Clinical and Evolving Aspects in a Prefectoral Hospital in Guinea 儿童神经症:几内亚一家县医院的临床和发展方面
Pub Date : 2021-05-08 DOI: 10.11648/J.CNN.20210502.14
V. Guilavogui, Nestor Onikoyamou, S. Diawara, K. Camara, F. Sakadi, Kézély Béavogui
Introduction: Cerebral malaria is one of the spontaneously fatal clinical manifestations of malaria. The aim of our study was to describe the clinical aspects and the evolving profile of cerebral malaria in children at the Coyah prefectural hospital. Material and methods: This was a prospective study of descriptive type over a period of 6 months from July 1st to December 31st, 2015. Our study was based on children admitted for severe malaria, presenting neurological signs and responding to our selection criteria. Results: 156 children were collected, with hospital frequency of 46%. The average age was 4.28 years old and the most affected age group was between 0 and 5 years (80.13%). The sex ratio=1.33; seizures and coma often preceded by fever were present in 51.92 and 23.72% respectively. Neuropaludism associated with anemia followed by cerebral malaria associated with hypoglycemia represented 52% and 26%, respectively, of the clinical phenotypes encountered in our study, while isolated cerebral malaria represented only 14%. 86.53% of patients had a favorable outcome, of which 76.27% presented no neurological abnormality on discharge and 10.26% with neurological sequelae on discharge from the hospital. 21 children or 13.47% died. Discussion: The delay in consultation in an adequate health structure linked on the one hand to the perception of modern medicine in rural areas and on the other hand to the epidemiological context of EBOLA virus hemorrhagic fever was aggravating causes of the diagnosis. Conclusion: Cerebral malaria is a major public health concern. The associated forms frequently observed lead to a fatal outcome because of the difficulties of care, especially in rural areas.
脑型疟疾是疟疾自然致死性临床表现之一。我们研究的目的是描述科耶县医院儿童脑疟疾的临床方面和发展概况。材料与方法:本研究为描述性前瞻性研究,研究时间为2015年7月1日至12月31日,为期6个月。我们的研究是基于因严重疟疾而入院的儿童,他们表现出神经症状,并对我们的选择标准做出反应。结果:共收集患儿156例,住院频次为46%。平均年龄4.28岁,发病年龄以0 ~ 5岁为主(80.13%)。性别比=1.33;癫痫和昏迷常伴有发热,分别占51.92%和23.72%。在我们的研究中,与贫血相关的神经性贫血和随后伴有低血糖的脑型疟疾分别占临床表型的52%和26%,而孤立性脑型疟疾仅占14%。86.53%的患者预后良好,其中76.27%的患者出院时无神经系统异常,10.26%的患者出院时有神经系统后遗症。21名儿童死亡,占13.47%。讨论:一方面与农村地区对现代医学的认识有关,另一方面与埃博拉病毒出血热的流行病学背景有关,在适当的卫生机构进行会诊的延误加剧了诊断的原因。结论:脑型疟疾是一个重大的公共卫生问题。由于护理困难,特别是在农村地区,经常观察到的相关形式导致致命的结果。
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引用次数: 0
Modern Problems in the Surgical Treatment of Epilepsy 癫痫手术治疗的现代问题
Pub Date : 2021-03-10 DOI: 10.11648/J.CNN.20210501.12
Mamytov Mitalip, Kadyrov Ruslan, Mamytova Elmira
Background: The surgical treatment of epilepsy is widely recognised by neurosurgeons as the most effective method for treating patients with drug-resistant forms of the disease. Objective: To analyse the results of surgical treatments in patients with epileptic seizures, depending on the applied methods of surgery. Methods: A comprehensive clinical examination of the surgical treatments of 112 patients with various forms of drug-resistant epilepsy was carried out. Results: Hemispherectomy was performed in three patients with positive outcomes. Hippocampectomy was performed for four patients. In two patients, the seizures became medically controlled. In the other two cases, the intervals between seizures were longer and seizures tended to occur at night. Extratemporal resection of the epileptogenic focus was performed in 86 patients, 72% percent of whom became seizure-free. Six patients underwent callosotomy, five of whom were then seizure free. One patient’s seizures resumed after 8 months, this case was also drug-resistant. Thirty two patients underwent multiple subpial transection and were followed-up for approximately 5 years. Excellent results were obtained in 20 (62.5%) patients with seizures ceasing. Conclusions: The results of the study showed sufficient efficiency of the applied methods of surgical treatment for various forms of epilepsy.
背景:手术治疗癫痫被神经外科医生广泛认为是治疗耐药形式癫痫患者最有效的方法。目的:分析不同手术方法对癫痫发作患者手术治疗效果的影响。方法:对112例不同形式的耐药癫痫患者的手术治疗进行综合临床分析。结果:3例患者均行半脑切除术,预后良好。4例患者行海马切除术。在两名患者中,癫痫发作得到了药物控制。在另外两个病例中,癫痫发作的间隔时间较长,并且癫痫发作往往发生在夜间。86例患者行颞外切除致痫灶,其中72%的患者无癫痫发作。6名患者接受了胼胝体切开术,其中5名患者当时没有癫痫发作。1例患者8个月后癫痫恢复,该病例也出现耐药。32例患者行多次基底下横断,随访约5年。20例(62.5%)患者癫痫发作停止,效果良好。结论:本研究结果表明,应用手术方法治疗各种形式的癫痫有足够的疗效。
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引用次数: 0
Risk Factors for Stroke Associated with HIV at Loandjili General Hospital in Pointe-Noire (Congo) 刚果黑角Loandjili综合医院与艾滋病毒相关的中风危险因素
Pub Date : 2021-01-01 DOI: 10.11648/j.cnn.20210504.16
Prince Eliot Galieni Sounga Bandzouzi, Ghislain Armel Mpandzou, Raissa Mayanda, Josué Euberma Diatewa, Patience Moudeko M’foutou, Dina Happia Motoula-latou, Charles Godefroy Koubemba, Paul Macaire Ossou-nguiet, D. Moukassa
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引用次数: 0
Report of Salmonella Meningitis in 3-Month-Old Children 报告3个月大儿童感染沙门氏菌脑膜炎
Pub Date : 2021-01-01 DOI: 10.11648/j.cnn.20210503.17
Meidry Tinasia Teslatu, Dewi Sutriani Mahalini, I. Gusti Ngurah Made Suwarba
{"title":"Report of Salmonella Meningitis in 3-Month-Old Children","authors":"Meidry Tinasia Teslatu, Dewi Sutriani Mahalini, I. Gusti Ngurah Made Suwarba","doi":"10.11648/j.cnn.20210503.17","DOIUrl":"https://doi.org/10.11648/j.cnn.20210503.17","url":null,"abstract":"","PeriodicalId":93199,"journal":{"name":"Journal of clinical neurology and neuroscience","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88218993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Suboccipital Craniotomy and C1 Laminectomy for Atypical Choroid Plexus Papilloma. 非典型脉络丛乳头状瘤的枕骨下开颅和C1椎板切除术
Pub Date : 2021-01-01 Epub Date: 2021-04-02
Patricia Sacks, Brandon Lucke-Wold, Marie Rivera-Zengotita, Jason Blatt

Atypical choroid plexus papilloma is a rare pediatric brain tumor that has distinct clinical and pathologic features. In this case, we highlight the diagnosis and management of this rare disease. The details of case positioning and execution are discussed. The case review is utilized as an overview of histopathologic findings, to discuss clinical features of the disease, and to highlight areas warranting further investigation. In particular, we provide insight into the typical clinical course post-treatment.

非典型脉络丛乳头状瘤是一种罕见的小儿脑肿瘤,具有独特的临床和病理特征。在本病例中,我们重点介绍了这种罕见疾病的诊断和处理方法。我们讨论了病例定位和执行的细节。病例回顾是对组织病理学发现的概述,讨论了该疾病的临床特征,并强调了值得进一步研究的领域。特别是,我们对治疗后的典型临床过程进行了深入探讨。
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引用次数: 0
期刊
Journal of clinical neurology and neuroscience
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