Clinical Neurology最新文献_第6页

[Importance of early treatment and quantitative evaluation of enzyme replacement therapy for Pompe disease: alglucosidase alfa post-marketing surveillance additional analysis]. [庞贝氏症早期治疗和酶替代疗法定量评估的重要性：阿糖苷酶α上市后监测补充分析]。

Clinical Neurology Pub Date : 2024-12-21 Epub Date: 2024-11-21 DOI: 10.5692/clinicalneurol.cn-001894

Yoshinori Sunaga, Tatsuro Sakashita, Tadashi Koga, Takayuki Sawada, Shiho Yamane, Mitsunobu Ikeda

{"title":"[Importance of early treatment and quantitative evaluation of enzyme replacement therapy for Pompe disease: alglucosidase alfa post-marketing surveillance additional analysis].","authors":"Yoshinori Sunaga, Tatsuro Sakashita, Tadashi Koga, Takayuki Sawada, Shiho Yamane, Mitsunobu Ikeda","doi":"10.5692/clinicalneurol.cn-001894","DOIUrl":"10.5692/clinicalneurol.cn-001894","url":null,"abstract":"We conducted an additional analysis using the data from the post-marketing surveillance of Alglucosidase alfa for Pompe disease. We aimed to investigate the changes in the percentage of predicted forced vital capacity (%FVC) and the changes in the distance of the 6-min walk test (6MWT) by overall improvement and to investigate the %FVC change by the duration from symptom onset to survey registration (shorter/longer groups) using a linear mixed model. Thirty-seven and eighteen survey participants had %FVC and 6MWT data available, respectively; of the patients whose overall improvement was rated as \"relatively improved,\" %FVC and 6MWT worsened in 71.4% and 66.7%, respectively. The %FVC at the survey registration estimated using a linear mixed model was significantly higher in the shorter group than in the longer group (P = 0.0413). The estimated slope of %FVC was significantly lower in the shorter group than in the longer group (P = 0.0051). These results suggest the importance of early treatment initiation and quantitative evaluation of each symptom.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"866-877"},"PeriodicalIF":0.0,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682940","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

[Initiatives for supporting the health care transition in various regions: activities of transitional care support centers]. [各地区支持医疗过渡的倡议：过渡医疗支持中心的活动]。

Clinical Neurology Pub Date : 2024-12-21 Epub Date: 2024-11-16 DOI: 10.5692/clinicalneurol.cn-002033

Yoko Mochizuki, Katsuhisa Ogata, Satoko Kumada, Tomihiro Imai, Chikako Akahoshi, Akiyo Hineno, Rie Kitahara, Ichiro Yabe, Hideki Mochizuki

{"title":"[Initiatives for supporting the health care transition in various regions: activities of transitional care support centers].","authors":"Yoko Mochizuki, Katsuhisa Ogata, Satoko Kumada, Tomihiro Imai, Chikako Akahoshi, Akiyo Hineno, Rie Kitahara, Ichiro Yabe, Hideki Mochizuki","doi":"10.5692/clinicalneurol.cn-002033","DOIUrl":"10.5692/clinicalneurol.cn-002033","url":null,"abstract":"The Japanese Society of Neurology's Special Committee on Measures for Transition from Pediatric to Adult Health Care held a workshop to discuss the activities of the transitional care support centers (TCSCs). The following points were addressed: (1) from Kanagawa Prefecture, the activities of the TCSC, which is set up alongside the Intractable Disease Consultation Support Center and the Intractable Disease Information Coordination Center, separated from medical institutions, and the efforts addressing cases of difficult transitions and consultations where patients cannot transition from specific pediatric chronic diseases to designated intractable diseases; (2) from Nagano Prefecture, the supporting the health care transition undertaken by the neurologist as intractable disease medical coordinator, and (3) the efforts of the transitional health care support coordinator at the TCSC established at the university hospital in collaboration with the Nagano Children's Hospital and the government. For the creation of a seamless support system, we hope that the pioneering activities reported at this time will spread nationwide.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"861-865"},"PeriodicalIF":0.0,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649227","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

[Behavioral variant of frontotemporal dementia with stereotypic speech: a case report]. [额颞叶痴呆的行为变异伴刻板言语：病例报告]。

Clinical Neurology Pub Date : 2024-12-21 Epub Date: 2024-11-16 DOI: 10.5692/clinicalneurol.cn-001969

Yukito Ueda, Ko Matsuo, Kana Matsuda, Ryo Momosaki, Akihiro Shindo, Hidekazu Tomimoto

引用次数: 0

[Economic burden of Parkinson's disease in Japan: long-term care expenditure for PD patients]. [日本帕金森病的经济负担：帕金森病患者的长期护理支出]。

Clinical Neurology Pub Date : 2024-12-21 Epub Date: 2024-11-21 DOI: 10.5692/clinicalneurol.cn-002021

Ichiro Naoi, Hiroshi Aino

引用次数: 0

[Diagnosis of posterior spinal artery infarctions using diffusion-weighted MRI]. [利用弥散加权磁共振成像诊断脊柱后动脉梗塞]。

Clinical Neurology Pub Date : 2024-12-21 Epub Date: 2024-11-16 DOI: 10.5692/clinicalneurol.cn-002011

Junichi Uemura, Saki Miyazato, Shinji Yamashita, Yoshiki Yagita, Takeshi Inoue

{"title":"[Diagnosis of posterior spinal artery infarctions using diffusion-weighted MRI].","authors":"Junichi Uemura, Saki Miyazato, Shinji Yamashita, Yoshiki Yagita, Takeshi Inoue","doi":"10.5692/clinicalneurol.cn-002011","DOIUrl":"10.5692/clinicalneurol.cn-002011","url":null,"abstract":"Posterior spinal artery (PSA) infarctions are rare and challenging to diagnose in the acute phase. Herein, we report two cases of PSA infarctions diagnosed using spinal diffusion-weighted imaging-MRI (DWI-MRI). Case 1 involved a 74-year-old male patient presenting to our hospital with right leg numbness and unsteadiness while walking. Neurological examination revealed muscle weakness in the right lower limb and decreased vibration sensation in the dermadrome below the right Th8 level. Spinal DWI-MRI showed a high-intensity signal in the posterior right Th8, leading to the diagnosis of thoracic spinal cord infarction in the PSA region. In Case 2, a 70-year-old woman visited our hospital complaining of numbness of the left hand. Neurological examination revealed left-sided paresthesia exhibiting a positive Romberg's sign. Spinal DWI-MRI showed a high-intensity signal in the right C2 level posterior region, confirming the diagnosis of cervical spinal cord infarction in the PSA region. A neurological examination for PSA infarction and highlights the usefulness of a spinal cord DWI for auxiliary diagnosis.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"884-889"},"PeriodicalIF":0.0,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649225","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

[Is the frequency of head MRI lesions reduced in Wernicke's encephalopathy associated with alcoholism?] [与酗酒有关的韦尼克脑病患者头部核磁共振成像病变的频率会降低吗？］

Clinical Neurology Pub Date : 2024-12-21 Epub Date: 2024-11-17 DOI: 10.5692/clinicalneurol.cn-002032

Daisuke Kuzume, Yuko Morimoto, Satoshi Tsutsumi, Masahiro Yamasaki, Naohisa Hosomi

引用次数: 0

Asymmetrical parkinsonism due to novel WDR45 variant with beta-propeller protein-associated neurodegeneration (BPAN). 新型WDR45变体导致的不对称帕金森病，伴有β-螺旋桨蛋白相关神经变性（BPAN）。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-12 DOI: 10.5692/clinicalneurol.cn-002015

Syuichi Tetsuka, Tomoko Ogawa, Marina Mizobe, Kazuhiro Muramatsu

{"title":"Asymmetrical parkinsonism due to novel WDR45 variant with beta-propeller protein-associated neurodegeneration (BPAN).","authors":"Syuichi Tetsuka, Tomoko Ogawa, Marina Mizobe, Kazuhiro Muramatsu","doi":"10.5692/clinicalneurol.cn-002015","DOIUrl":"10.5692/clinicalneurol.cn-002015","url":null,"abstract":"Beta-propeller protein-associated neurodegeneration (BPAN) encompasses a group of refractory neurodegenerative diseases that are caused by excessive iron deposition in the brain, especially in the basal ganglia. We reported a case of BPAN with a novel variant of the WDR45 gene at Xp11.23. Our patient was a 31-year-old woman who has had an intellectual disability since childhood. Approximately 3 years ago, she developed asymmetric parkinsonism affecting the distal right upper and lower limbs. Consistent with her neurological findings, dopamine transporter single-photon emission computed tomography demonstrated the differences between the left and right sides. She was diagnosed as BPAN according to genetic analysis, which showed a novel heterozygous variant (c.345-3C>G) in WDR45. To the best of our knowledge, only a few previous case reports on asymmetric BPAN have described the quantitative differences in neuroimaging parameters between the left and right sides. These neuroimaging features were similar to those of Parkinson's disease, among the other neurodegenerative diseases. Our report may provide clues to elucidate the pathological mechanism of BPAN which is a refractory neurodegenerative disease.","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"802-806"},"PeriodicalIF":0.0,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142476982","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 case of amyotrophic lateral sclerosis managed by tracheostomy and invasive ventilation in which air leaks occurred at the cuff]. [一例通过气管造口术和有创通气治疗的肌萎缩性脊髓侧索硬化症患者，其袖带处出现漏气]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-19 DOI: 10.5692/clinicalneurol.cn-001990

Nobuhiko Shibasaki, Kaoru Konishi, Yutaka Nishiyama, Tetsuo Miyagawa, Takaya Numayama

引用次数: 0

[Pathophysiology of vertebral artery stump syndrome]. [椎动脉残端综合征的病理生理学]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-13 DOI: 10.5692/clinicalneurol.cn-002042

Miharu Yanagida, Yasushi Hosoi, Tatsuhiro Kawano, Yusuke Otake, Hiramatsu Hisaya, Michiko Ito

引用次数: 0

[Pathophysiology of vertebral artery stump syndrome]. [椎动脉残端综合征的病理生理学]。

Clinical Neurology Pub Date : 2024-11-22 Epub Date: 2024-10-13 DOI: 10.5692/clinicalneurol.cn-002003

Hiroyuki Kawano, Teruyuki Hirano

引用次数: 0