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Neurology and Clinical Neuroscience最新文献

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Parry–Romberg syndrome—Still progressing over 20 years of disease course Parry-Romberg综合征-病程持续超过20年
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-06-25 DOI: 10.1111/ncn3.12764
Ashem Thoibisana, B. Mishra, A. Elavarasi, R. Singh, D. Vibha, Shailesh Gaikwad, M. Tripathi
{"title":"Parry–Romberg syndrome—Still progressing over 20 years of disease course","authors":"Ashem Thoibisana, B. Mishra, A. Elavarasi, R. Singh, D. Vibha, Shailesh Gaikwad, M. Tripathi","doi":"10.1111/ncn3.12764","DOIUrl":"https://doi.org/10.1111/ncn3.12764","url":null,"abstract":"Parry–Romberg syndrome presents with atrophy of one‐half of the face involving skin, soft tissue, muscle, and bone. It usually progresses slowly over 2–20 years and finally stabilizes. Neuropsychiatric abnormalities are subtle, seen in about 10% of the patients, and include cognitive disturbances, aphasia, hallucination, and other psychiatric disorders. We describe the case of a young female who had progressive brain atrophy over 20 years of disease course and presented with focal seizures and recent onset progressive cognitive impairment.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"564 ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41315126","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
Lupus myelitis in a patient with a first diagnosis of systemic lupus erythematosus 狼疮脊髓炎患者首次诊断为系统性红斑狼疮
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-06-20 DOI: 10.1111/ncn3.12762
W. Silakun, Praewa Tantisungvarakoon, Sirinart Wisitruangrit, Witoon Mitarnun
{"title":"Lupus myelitis in a patient with a first diagnosis of systemic lupus erythematosus","authors":"W. Silakun, Praewa Tantisungvarakoon, Sirinart Wisitruangrit, Witoon Mitarnun","doi":"10.1111/ncn3.12762","DOIUrl":"https://doi.org/10.1111/ncn3.12762","url":null,"abstract":"","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48655100","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
Serum uric acid and Parkinson's disease: A systematic review and meta‐analysis 血清尿酸与帕金森病:一项系统综述和荟萃分析
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-06-09 DOI: 10.1111/ncn3.12761
M. Balabandian, S. Salahi, Behnaz Mahmoudvand, Mahla Esmaeilzadeh, Seyedeh Melika Hashemi, F. Nabizadeh
{"title":"Serum uric acid and Parkinson's disease: A systematic review and meta‐analysis","authors":"M. Balabandian, S. Salahi, Behnaz Mahmoudvand, Mahla Esmaeilzadeh, Seyedeh Melika Hashemi, F. Nabizadeh","doi":"10.1111/ncn3.12761","DOIUrl":"https://doi.org/10.1111/ncn3.12761","url":null,"abstract":"Numerous studies attempted to fully understand the association between serum uric acid (UA) and Parkinson's disease. Due to the contradictory results, we aimed to perform a systematic review and meta‐analysis to investigate the association between UA and PD.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46723375","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
Education on neuromuscular electrodiagnosis and neurological symptomatology 神经肌肉电诊断和神经症状学教育
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-05-31 DOI: 10.1111/ncn3.12759
M. Sonoo
{"title":"Education on neuromuscular electrodiagnosis and neurological symptomatology","authors":"M. Sonoo","doi":"10.1111/ncn3.12759","DOIUrl":"https://doi.org/10.1111/ncn3.12759","url":null,"abstract":"Neurological symptomatology is a crucial component of neurological expertise. The committee for fostering board‐certified neurologists in the Japanese Society of Neurology (JSN) has hosted an educational activity for residents before the board examination, “The seminar for fostering board‐certified neurologists” since 2004. In particular, the autumn seminar has been characterized by small group hands‐on of neurological examinations and the evaluations of higher brain function. Besides this, hands‐on seminar of neurological examinations by regional branches has been promoted by the JSN. In the Kanto Ko‐shin‐etsu branch, “The first hands‐on seminar of neurological examinations” started in 2023 after a 3‐year‐suspension due to COVID‐19. The most important educational activities in neuromuscular electrodiagnosis (EDx) is the “Neuromuscular diagnostics seminar” hosted since 2004 by the Japanese Society of Clinical Neurophysiology (JSCN). The majority of tutors and participants are neurologists. This seminar is also characterized by small‐group, hands‐on workshops. We have also run the overseas seminar, “Tokyo Super EMG hands‐on,” since 2013. These have undoubtedly contributed to enhancing the level of neuromuscular electrodiagnosis not only in Japan but also in other Asian countries. I have conducted studies on neurological symptomatology and neuromuscular electrodiagnosis, which are directly linked to enhancing clinical practice of neurologists through educational activities such as review articles or lectures. Due to the fact that symptomatology is crucial in neurological expertise, neurology is a basic specialty around the world except in Japan. In 2018, the JSN decided to aim to make neurology a basic specialty and continues to make efforts to attain this goal.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"255 - 261"},"PeriodicalIF":0.4,"publicationDate":"2023-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46332575","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
Pitfalls in the diagnosis of post‐TAVI (transcatheter aortic valve implantation) stroke TAVI（经导管主动脉瓣植入术）后卒中的诊断缺陷
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-05-30 DOI: 10.1111/ncn3.12760
T. Miyata, Fumiaki Yashima, Takaki Ichikawa, Katsuya Saito, J. Inamasu
{"title":"Pitfalls in the diagnosis of post‐TAVI (transcatheter aortic valve implantation) stroke","authors":"T. Miyata, Fumiaki Yashima, Takaki Ichikawa, Katsuya Saito, J. Inamasu","doi":"10.1111/ncn3.12760","DOIUrl":"https://doi.org/10.1111/ncn3.12760","url":null,"abstract":"Stroke is an infrequent yet well‐known complication of transcatheter aortic valve implantation (TAVI). While mechanical thrombectomy (MT) is a useful rescue procedure in patients with symptomatic post‐TAVI stroke, it should be reminded that embolic materials derived from degenerated aortic valve have heterogeneities. We describe a case of post‐TAVI stroke in which a calcified debris caused embolic occlusion of the left middle cerebral artery. The calcified embolus eluded detection on magnetic resonance imaging (MRI), which might have been responsible, at least in part, for unsuccessful MT. Formation of calcified debris may not be rare after TAVI, and therefore, brain CT may be given priority as an imaging modality in the initial evaluation of patients suspected of post‐TAVI stroke.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2023-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49213796","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
Physiological changes in advanced Parkinson's disease: Altered motor cortical plasticity and its significance in pathophysiology and clinical symptoms 晚期帕金森病的生理变化:运动皮质可塑性的改变及其在病理生理和临床症状中的意义
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-05-12 DOI: 10.1111/ncn3.12728
Takahiro Shimizu, R. Hanajima
{"title":"Physiological changes in advanced Parkinson's disease: Altered motor cortical plasticity and its significance in pathophysiology and clinical symptoms","authors":"Takahiro Shimizu, R. Hanajima","doi":"10.1111/ncn3.12728","DOIUrl":"https://doi.org/10.1111/ncn3.12728","url":null,"abstract":"Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by dopaminergic neurodegeneration in the substantia nigra. Dopamine plays an important role in the induction of synaptic plasticity, and plastic changes in the brain have been broadly investigated in PD. In humans, non‐invasive transcranial magnetic stimulation (TMS) has been widely used for plasticity induction in the motor cortex. In this review, we will discuss how dopamine receptors are involved in the induction of neuroplasticity, changes in corticostriatal plasticity in PD model animals, effects of dopamine on motor cortical plasticity in healthy humans, changes in motor cortical plasticity in PD patients including its relationship to motor symptoms, and, finally, altered plasticity in levodopa‐induced dyskinesia.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"218 - 225"},"PeriodicalIF":0.4,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48763750","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
An exceptional presentation of Charcot–Marie‐tooth 1C disease: Case report of a diagnostic dilemma Charcot-Marie - tooth 1C疾病的特殊表现:诊断困境的病例报告
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-05-09 DOI: 10.1111/ncn3.12723
Camelia Porey
{"title":"An exceptional presentation of Charcot–Marie‐tooth 1C disease: Case report of a diagnostic dilemma","authors":"Camelia Porey","doi":"10.1111/ncn3.12723","DOIUrl":"https://doi.org/10.1111/ncn3.12723","url":null,"abstract":"Charcot–Marie‐Tooth (CMT) disease is the commonest form of hereditary sensorimotor neuropathy and presents with a vast plethora of phenotypes and genetic mutations. CMT1C is a rarer variant presenting with lower limb predominant sensorimotor involvement, associated with LITAF/SIMPLE gene mutation. We describe a case of an 18‐year‐old male with progressive asymmetrical upper limb weakness and atrophy with an extensive epidural arachnoid cyst in cervicothoracic spine. Nerve conduction study and genetic analysis aided the diagnosis of CMIT1C. This is the first case reported with the coexistence of the two pathologies that may turn out to be a phenotype of the same disease spectrum in future research.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"276 - 279"},"PeriodicalIF":0.4,"publicationDate":"2023-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44099434","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
Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene SLC6A8基因一个新的错义变体引起的脑肌酸缺乏综合征
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-05-07 DOI: 10.1111/ncn3.12726
B. Turan, E. Göktaş, F. M. Sönmez, H. Aydın, Demet Aydoğdu, A. Zamani, M. Yıldırım
{"title":"Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene","authors":"B. Turan, E. Göktaş, F. M. Sönmez, H. Aydın, Demet Aydoğdu, A. Zamani, M. Yıldırım","doi":"10.1111/ncn3.12726","DOIUrl":"https://doi.org/10.1111/ncn3.12726","url":null,"abstract":"Cerebral creatine deficiency syndromes (CCDS) are three metabolic diseases characterized by loss of function in three proteins (GATM, GAMT, and SLC6A8) that required in creatine (Cr) synthesis pathway and transport. In this study, we aimed to identify the causal variant in a male who was 12‐year‐old manifesting intellectual disability (ID), seizures, expressive dysphasia and autism‐like behavior. Urinary Cr metabolite measurements and MRI‐spectroscopy (MRS) findings were consistent with CCDS. Molecular analysis revealed de novo hemizygous SLC6A8 (NM_005629.4): c.1400 T > G (p.Met467Arg) variant. The variant was not found in ClinVar, (the date of access: April 23th, 2023) and population databases (ExAC, gnomAD, 1000 Genomes, ESP 6500, Turkish Variome, GenomeAsia, Iranome, GME Variome, TOPMed Bravo and 4.7KJPN), it alters the physicochemical properties of the amino acid, the region is moderately conserved across species and in‐silico prediction tools (REVEL, CADD, SIFT, PolyPhen2, Mutation Taster, MetaLR, MCAP, MetaRNN and MutPred) unanimously emphasize pathogenicity. Based on this evidence, the variant was interpreted as “likely pathogenic” according to the ACMG criteria (PS2, PM2,PP3, and PP4‐S). This report may further elucidate the nature and phenotypic consequences of SLC6A8 variants.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"286 - 288"},"PeriodicalIF":0.4,"publicationDate":"2023-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43317955","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
A rare case of acute embolic stroke related with undifferentiated pleomorphic sarcoma 急性栓塞性脑卒中合并未分化多形性肉瘤1例
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-05-07 DOI: 10.1111/ncn3.12724
R. Ghorpade, Rahul Vojjini, F. Tissavirasingham, Negin Khosravi, Manav Rawal, Eric Bracken, Sunitha Vemulapalli
{"title":"A rare case of acute embolic stroke related with undifferentiated pleomorphic sarcoma","authors":"R. Ghorpade, Rahul Vojjini, F. Tissavirasingham, Negin Khosravi, Manav Rawal, Eric Bracken, Sunitha Vemulapalli","doi":"10.1111/ncn3.12724","DOIUrl":"https://doi.org/10.1111/ncn3.12724","url":null,"abstract":"Undifferentiated pleomorphic sarcoma is uncommonly seen and can be present in soft tissue as a slow‐growing and painless mass. The usual presenting symptoms of these tumors are swelling, pain, and constitutional symptoms. However, an initial presentation of pleomorphic sarcoma as an embolic stroke is rarely seen. We report a patient who presented with cerebellar stroke and had widespread pulmonary nodules on chest X‐ray. The Computed Tomography (CT)‐guided biopsy of the pulmonary nodules revealed a diagnosis of undifferentiated pleomorphic sarcoma. These findings prompted a thorough physical examination in search of malignancy. Unfortunately, the patient was found to have left leg swelling, which was missed on the initial exam, delaying diagnosis and management. Additionally, the patient was found to have a patent foramen ovale (PFO) on transesophageal echocardiogram (TEE). However, no source of emboli was found.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"280 - 282"},"PeriodicalIF":0.4,"publicationDate":"2023-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41832261","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
HSV encephalitis relapse in the setting of chemotherapy 单纯疱疹脑炎在化疗的背景下复发
IF 0.4
Neurology and Clinical Neuroscience Pub Date : 2023-05-07 DOI: 10.1111/ncn3.12727
J. Crowe, A. Bender, I. Migdady, Saef Izzy
{"title":"HSV encephalitis relapse in the setting of chemotherapy","authors":"J. Crowe, A. Bender, I. Migdady, Saef Izzy","doi":"10.1111/ncn3.12727","DOIUrl":"https://doi.org/10.1111/ncn3.12727","url":null,"abstract":"Patients who suffer a brain injury trigger are vulnerable to late relapse of herpes simplex encephalitis. We present an immunocompromised patient with late‐life relapse of herpes simplex encephalitis after an ischemic stroke.","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":"11 1","pages":"289 - 291"},"PeriodicalIF":0.4,"publicationDate":"2023-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"63478605","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
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