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Expanded‐repeat‐RNA ‐mediated disease mechanisms in myotonic dystrophy 强直性肌营养不良的扩展重复核糖核酸介导的疾病机制
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-12-07 DOI: 10.1111/ncn3.12687
M. Nakamori
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引用次数: 0
Parkinson's disease and nocturnal polyuria 帕金森病和夜间多尿症
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-12-02 DOI: 10.1111/ncn3.12686
R. Sakakibara, A. Shimizu, O. Takahashi, Tsuyoshi Ogata, S. Sawai, T. Uchiyama, Tatsuya Yamamoto
The question of whether Parkinson's disease (PD) patients have nocturnal polyuria (NP) has not yet been fully answered.
帕金森病(PD)患者是否有夜间多尿(NP)的问题尚未得到充分回答。
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引用次数: 1
Characteristic magnetic resonance imaging of leptomeningeal metastases of lung adenocarcinoma: Fluid‐attenuated inversion recovery and diffusion‐weighted imaging hyperintensity on brainstem surfaces 肺腺癌软脑膜转移的特征性磁共振成像:脑干表面液体衰减反转恢复和扩散加权成像高信号
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-11-19 DOI: 10.1111/ncn3.12684
Shunji Edagawa, N. Ito, Y. Nakamura, T. Toyoshima, Y. Ohkubo, S. Chiba
Cytology of cerebrospinal fluid is the gold standard for diagnosing leptomeningeal carcinomatosis, despite its low sensitivity. Herein, we report a case of leptomeningeal carcinomatosis in a patient with relapsed lung adenocarcinoma who presented with tinnitus and hearing loss for 3 months. Magnetic resonance imaging revealed characteristic fluid‐attenuated inversion recovery and diffusion‐weighted imaging hyperintensities along the leptomeningeal surfaces of the brainstem. The ratio of the concentration of carcinoembryonic antigen in the serum and cerebrospinal fluid was 1.2:1. The cerebrospinal fluid cytology obtained at the fourth lumbar puncture revealed suspected malignancy, and a definitive diagnosis of metastatic adenocarcinoma was confirmed via brain biopsy. This case supports the utility of characteristic magnetic resonance imaging appearance and repeated lumber punctures as an evaluation for leptomeningeal carcinomatosis.
脑脊液细胞学是诊断脑膜轻脑癌的金标准,尽管其敏感性较低。在此,我们报告一例复发性肺腺癌患者出现耳鸣和听力损失3个月。磁共振成像显示脑干轻脑膜表面有特征性的流体衰减反转恢复和扩散加权成像高信号。血清与脑脊液中癌胚抗原浓度之比为1.2:1。第四次腰椎穿刺的脑脊液细胞学检查显示疑似恶性肿瘤,并通过脑活检确诊转移性腺癌。本病例支持特征性的磁共振成像表现和反复的腰椎穿刺作为对脑膜轻脑癌的评估。
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引用次数: 0
Recent Advances in Benign Adult Familial Myoclonus Epilepsy ( BAFME ) 成人良性家族性肌阵挛癫痫(BAFME)研究进展
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-11-19 DOI: 10.1111/ncn3.12685
M. Matsukawa, H. Ishiura, S. Tsuji, Tatsushi Toda
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引用次数: 0
Issue Information 问题信息
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-11-01 DOI: 10.1111/ncn3.12682
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引用次数: 0
A case report of anti‐N‐methyl‐d‐aspartate receptor encephalitis with chromosomally integrated human herpesvirus 6 抗- N -甲基- d -天冬氨酸受体脑炎伴染色体整合人疱疹病毒6例报告
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-10-27 DOI: 10.1111/ncn3.12681
Kazunori Iwao, Mitsuru Watanabe, T. Mukaino, T. Fujii, R. Yamasaki, N. Isobe
Chromosomally integrated human herpesvirus 6 (ciHHV6) is a condition where HHV6‐DNA is integrated into the host germline genome. ciHHV6 can be misdiagnosed as active HHV6 infection. We report a 30‐year‐old woman presenting with psychological symptoms without a history of immunodeficiency. She had an ovarian teratoma and anti‐N‐methyl‐D‐aspartate receptor (NMDAR) antibodies in the cerebrospinal fluid (CSF) with HHV6‐DNA in the serum and CSF. The final diagnosis was anti‐NMDAR encephalitis and ciHHV6 because laparoscopic oophorectomy and immunotherapy ameliorated her symptoms and HHV6‐DNA was detected in her oral mucosa cells. This case suggests the need to assess whether HHV6‐DNA is related to infection or ciHHV6 when HHV6‐DNA is detected in the CSF of patients with encephalitis.
染色体整合的人类疱疹病毒6型(ciHHV6)是HHV6‐DNA整合到宿主种系基因组中的一种情况。ciHHV6可被误诊为活动性HHV6感染。我们报告了一名30岁的女性,她表现出心理症状,没有免疫缺陷病史。她患有卵巢畸胎瘤,脑脊液中有抗N-甲基-D-天冬氨酸受体(NMDAR)抗体,血清和脑脊液中有HHV6‐DNA。最终诊断为抗NMDAR脑炎和ciHHV6,因为腹腔镜卵巢切除术和免疫疗法改善了她的症状,并且在她的口腔粘膜细胞中检测到HHV6‐DNA。该病例表明,当在脑炎患者的CSF中检测到HHV6‐DNA时,需要评估HHV6‐脱氧核糖核酸是否与感染或ciHHV6有关。
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引用次数: 0
Oculopharyngodistal myopathy 眼咽远端肌病
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-10-27 DOI: 10.1111/ncn3.12680
N. Eura, M. Ogasawara, I. Nishino
{"title":"Oculopharyngodistal myopathy","authors":"N. Eura, M. Ogasawara, I. Nishino","doi":"10.1111/ncn3.12680","DOIUrl":"https://doi.org/10.1111/ncn3.12680","url":null,"abstract":"","PeriodicalId":19154,"journal":{"name":"Neurology and Clinical Neuroscience","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2022-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46127198","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
Case of anti‐NT5c1A antibody‐seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness 1例抗NT5c1A抗体血清阳性包涵体肌炎伴严重吞咽困难和明显前臂无力
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-10-24 DOI: 10.1111/ncn3.12678
N. Matsui, Mika Takahara, H. Yamazaki, N. Takamatsu, Y. Osaki, Ryuji Kaji, I. Nishino, S. Yamashita, Y. Izumi
We report a case of an 82‐year‐old woman with inclusion body myositis (IBM), who presented with severe dysphagia, finger flexor weakness, and respiratory dysfunction. In addition, the patient showed prominent forearm weakness with quadriceps sparing and was seropositive for the anti‐cytosolic 5′‐nucleotidase 1A (NT5c1A) antibody. The presence of the anti‐NT5c1A antibody is presumably associated with dysphagia. We speculate that the anti‐NT5c1A antibody is associated with the large discrepancy between distal upper limb weakness and proximal lower limb weakness in IBM.
我们报告一例82岁女性包涵体肌炎(IBM),表现为严重的吞咽困难,手指屈肌无力和呼吸功能障碍。此外,患者表现出明显的前臂无力,股四头肌保留,抗胞浆5′核苷酸酶1A (NT5c1A)抗体血清阳性。抗NT5c1A抗体的存在可能与吞咽困难有关。我们推测,抗NT5c1A抗体与IBM患者远端上肢无力和近端下肢无力之间的巨大差异有关。
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引用次数: 0
Recent topics of neuronal intranuclear inclusion disease ( NIID ) 神经元核内包涵病(NIID)的最新研究课题
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-10-20 DOI: 10.1111/ncn3.12675
J. Sone
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引用次数: 0
Cerebral air embolism: A hidden cause of acute ischemic stroke 脑空气栓塞:急性缺血性脑卒中的隐藏原因
IF 0.4 Q4 CLINICAL NEUROLOGY Pub Date : 2022-10-20 DOI: 10.1111/ncn3.12676
C. Zivelonghi, C. D. De Pasqual, M. Plebani, M. Capellari
A 46‐year‐old man presented to the Emergency Department because of food bolus impaction after an emergent esophagogastroduodenoscopy (EGD). Three hours after the procedure, awakening from general anesthesia, he complained drowsiness and left‐sided weakness. Brain CT scan was unremarkable, while CT angiography performed later revealed signs of pneumomediastinum likely from an esophageal laceration. Thorough cardiological, hematological, and rheumatological investigations during hospital stay proved unremarkable. Cerebral air embolism (CAE) has been reported as a potential complication of endoscopic procedures, but the precise mechanism is still unknown.
一名46岁的男子在紧急食管胃十二指肠镜检查(EGD)后因食物团嵌塞而被送往急诊科。手术后三小时,他从全身麻醉中醒来,抱怨嗜睡和左侧无力。脑部CT扫描不明显,而随后进行的CT血管造影术显示纵隔气肿的迹象,可能是食道撕裂所致。住院期间进行的全面的心脏病、血液学和风湿病调查证明并不显著。脑空气栓塞(CAE)已被报道为内窥镜手术的潜在并发症,但其确切机制尚不清楚。
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引用次数: 0
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Neurology and Clinical Neuroscience
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