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PRACTICAL NEUROLOGY最新文献

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Metamorphosis. 蜕变
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-08-12 DOI: 10.1136/pn-2024-004304
Sophie Voase
{"title":"Metamorphosis.","authors":"Sophie Voase","doi":"10.1136/pn-2024-004304","DOIUrl":"https://doi.org/10.1136/pn-2024-004304","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972034","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
Immunoglobulin use in neurology: a practical approach. 免疫球蛋白在神经病学中的应用：实用方法。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-08-03 DOI: 10.1136/pn-2022-003655
Mahima Kapoor, Anthony Khoo, Michael P T Lunn, Stephen Reddel, Aisling S Carr
{"title":"Immunoglobulin use in neurology: a practical approach.","authors":"Mahima Kapoor, Anthony Khoo, Michael P T Lunn, Stephen Reddel, Aisling S Carr","doi":"10.1136/pn-2022-003655","DOIUrl":"https://doi.org/10.1136/pn-2022-003655","url":null,"abstract":"<p><p>Human immunoglobulin, delivered either intravenously (IVIg) or subcutaneously, is used to treat a range of immune-mediated neurological disorders. It has a role in acute or subacute inflammatory disease control and as a maintenance therapy in chronic disease management. This review considers mechanisms of IVIg action and the evidence for IVIg in neurological conditions. We use Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) as frameworks to demonstrate an approach to IVIg use in acute and chronic dysimmune neurological conditions across two different healthcare systems: the UK and Australia. We highlight the benefits and limitations of IVIg and focus on practical considerations such as informed consent, managing risks and adverse effects, optimal dosing and monitoring response. We use these basic clinical practice principles to discuss the judicious use of an expensive and scarce blood product with international relevance.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141890344","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
Carphology 文字学
IF 2.8
PRACTICAL NEUROLOGY Pub Date : 2024-08-01 DOI: 10.1136/pn-2024-004291
A Fo Ben
{"title":"Carphology","authors":"A Fo Ben","doi":"10.1136/pn-2024-004291","DOIUrl":"https://doi.org/10.1136/pn-2024-004291","url":null,"abstract":"As if the poor lab mouse hasn’t had it hard enough, these stoic cheese stealers are now encouraged to develop murine long-COVID. Brain fog is a common symptom and interleukin-1, critical in the innate defence against the pandemic virus, is elevated in the hippocampi of people who’ve had COVID. Researchers set out to investigate the impact of vaccination on this process. They confirm that SARS-CoV-2 but not H1N1 flu induces the indicative rise of interleukin-1beta and a persistent interleukin driven loss of hippocampal neurogenesis, which was ameliorated when the mice were vaccinated against COVID. Nat Immunol . 2024 doi:10.1038/s41590-024-01868-z. Neurological pragmatists keen to super-charge the placebo value …","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":"74 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141721368","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
Retinal vasculopathy with cerebral leukoencephalopathy: a rare mimic of CNS vasculitis. 视网膜血管病伴脑白质脑病：中枢神经系统血管炎的罕见模拟病例。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-31 DOI: 10.1136/pn-2024-004246
Andrew J Martin
{"title":"Retinal vasculopathy with cerebral leukoencephalopathy: a rare mimic of CNS vasculitis.","authors":"Andrew J Martin","doi":"10.1136/pn-2024-004246","DOIUrl":"https://doi.org/10.1136/pn-2024-004246","url":null,"abstract":"<p><p>Retinal vasculopathy with cerebral leukoencephalopathy is a rare autosomal dominant genetic disorder due to mutation in the <i>TREX1</i> gene and presents with both central nervous system (CNS) and other organ dysfunction. It is often misdiagnosed as demyelination or vasculitis based on imaging features, often with potentially harmful immunotherapy given unnecessarily. This report describes two sisters with progressive hemiparesis, retinal vasculopathy and hepatic dysfunction, one of whom was initially misdiagnosed and treated for cerebral vasculitis. Imaging showed extensive and asymmetric white matter lesions with persistent diffusion restriction and contrast enhancement. Extensive autoimmune and infectious investigations were unremarkable. Both patients had a novel heterozygous variant in the <i>TREX1</i> gene, giving a diagnosis of retinal vasculopathy with cerebral leukoencephalopathy. Clinicians should consider this condition in atypical presentations of suspected demyelination or CNS vasculitis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141861187","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
Reframing the clinical phenotype and management of cryptococcal meningitis. 重塑隐球菌脑膜炎的临床表型和管理。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-29 DOI: 10.1136/pn-2024-004133
Maria Francisca Rocha, Hamish D C Bain, Neil Stone, David Meya, Lucia Darie, Ahmed K Toma, Michael P T Lunn, Arpan R Mehta, Charles Coughlan
{"title":"Reframing the clinical phenotype and management of cryptococcal meningitis.","authors":"Maria Francisca Rocha, Hamish D C Bain, Neil Stone, David Meya, Lucia Darie, Ahmed K Toma, Michael P T Lunn, Arpan R Mehta, Charles Coughlan","doi":"10.1136/pn-2024-004133","DOIUrl":"10.1136/pn-2024-004133","url":null,"abstract":"<p><p>Cryptococcal meningitis is an important global health problem, resulting from infection with the yeast <i>Cryptococcus</i>, especially <i>Cryptococcus neoformans</i> and <i>Cryptococcus gattii</i>, which cause a spectrum of disease ranging from pulmonary and skin lesions to life-threatening central nervous system involvement. The diagnosis and management of cryptococcal meningitis have substantially changed in recent years. Cryptococcal meningitis often occurs in people living with advanced HIV infection, though in high-income countries with robust HIV detection and treatment programmes, it increasingly occurs in other groups, notably solid-organ transplant recipients, other immunosuppressed patients and even immunocompetent hosts. This review outlines the clinical presentation, management and prognosis of cryptococcal meningitis, including its salient differences in people living with HIV compared with HIV-negative patients. We discuss the importance of managing raised intracranial pressure and highlight the advantages of improved multidisciplinary team working involving neurologists, infectious disease specialists and neurosurgeons.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141601951","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
Beriberi following sleeve gastrectomy. 袖状胃切除术后的脚气病
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-26 DOI: 10.1136/pn-2024-004219
Bernard Liem, Xin You Tai, Faye Begeti, Farheen Fazal Fathima, Monika Hofer, Lucy Matthews, Simon Rinaldi, David L H Bennett, Martin R Turner
{"title":"Beriberi following sleeve gastrectomy.","authors":"Bernard Liem, Xin You Tai, Faye Begeti, Farheen Fazal Fathima, Monika Hofer, Lucy Matthews, Simon Rinaldi, David L H Bennett, Martin R Turner","doi":"10.1136/pn-2024-004219","DOIUrl":"https://doi.org/10.1136/pn-2024-004219","url":null,"abstract":"<p><p>Bariatric surgery is being undertaken more frequently in response to rising levels of obesity but is increasingly also requested as a cosmetic choice. Nutritional deficiencies are a recognised consequence of gastrectomy, with potentially severe and permanent neurological sequelae. We present two cases of acute, severe polyneuropathy following sleeve gastrectomy. Severe thiamine deficiency was considered in both cases but with delayed proof and a significant initial differential diagnosis. Neurologists must have a high index of suspicion for the peripheral as well as central presentations of thiamine deficiency to avoid permanent disability. We also call for explicit information resources warning of the risk and signs of thiamine deficiency to be provided routinely to patients after gastrectomy.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141767617","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
Time Shelter by Georgi Gospodinov. 格奥尔基-戈斯波迪诺夫的《时间庇护所》。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-25 DOI: 10.1136/pn-2024-004236
Christopher Hutchcroft, Daniel Whittam, Stephanie Azzopardi, Rachel Todd, Keira Markey, Katy Dodd, Matthew Jones, Anna Richardson, James Lilleker, Fernando Garcia Del Carrizo, Rajiv Mohanraj
{"title":"<i>Time Shelter</i> by Georgi Gospodinov.","authors":"Christopher Hutchcroft, Daniel Whittam, Stephanie Azzopardi, Rachel Todd, Keira Markey, Katy Dodd, Matthew Jones, Anna Richardson, James Lilleker, Fernando Garcia Del Carrizo, Rajiv Mohanraj","doi":"10.1136/pn-2024-004236","DOIUrl":"https://doi.org/10.1136/pn-2024-004236","url":null,"abstract":"","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141767616","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
Encephalitis associated with anti-mGluR5 antibodies. 与抗mGluR5抗体相关的脑炎。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-16 DOI: 10.1136/pn-2024-004089
Denison Alves Pedrosa, João Henrique Fregadolli Ferreira, Rene Gleizer, Rafael Bernhart Carra, Rachel Marin de Carvalho, Verena Endmayr, Romana Hoftberger, Lívia Almeida Dutra
{"title":"Encephalitis associated with anti-mGluR5 antibodies.","authors":"Denison Alves Pedrosa, João Henrique Fregadolli Ferreira, Rene Gleizer, Rafael Bernhart Carra, Rachel Marin de Carvalho, Verena Endmayr, Romana Hoftberger, Lívia Almeida Dutra","doi":"10.1136/pn-2024-004089","DOIUrl":"10.1136/pn-2024-004089","url":null,"abstract":"<p><p>A 30-year-old woman had 5 days of visual hallucinations, nystagmus, memory impairment and mutism. On examination, she was disorientated with reduced attention span, gaze-evoked nystagmus, paratonia and abnormal frontal reflexes. Cerebrospinal fluid (CSF) showed 80 cells, protein 0.41 g/L and glucose 3.2 mmol/L (plasma glucose 5.0 mmol/L). MR scan of the brain showed involvement of limbic and extra-limbic regions and brainstem. Commercial cell-based assays were negative, but tissue-based assays showed neuropil staining, and cell-based assays for anti-metabotropic glutamate receptor 5 (mGluR5) antibodies were positive in serum and CSF. Six months later, she was diagnosed with Hodgkin's lymphoma. This case emphasises the broader clinical spectrum of anti-mGluR5 encephalitis, challenging its initial characterisation as Ophelia syndrome. It underscores the significance of interpreting commercial cell-based assays and advocates for tissue-based assay testing followed by cell-based assay testing in serum and CSF for diagnosing rare autoimmune encephalitis.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"306-309"},"PeriodicalIF":2.4,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139997740","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
Postexercise reflex facilitation in Lambert-Eaton myasthenic syndrome. 兰伯特-伊顿肌无力综合征的运动后反射促进。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-16 DOI: 10.1136/pn-2023-004032
Mervyn Poh, Yeo Chong Ming, Patricia Cheong Yanni, Gee Jin Ng, Yong Howe Ho, Kalpana Prasad, Umapathi Thirugnanam
{"title":"Postexercise reflex facilitation in Lambert-Eaton myasthenic syndrome.","authors":"Mervyn Poh, Yeo Chong Ming, Patricia Cheong Yanni, Gee Jin Ng, Yong Howe Ho, Kalpana Prasad, Umapathi Thirugnanam","doi":"10.1136/pn-2023-004032","DOIUrl":"10.1136/pn-2023-004032","url":null,"abstract":"<p><p>A 62-year-old woman had 6 months of proximal weakness, fatigue and occasional diplopia, symptoms normally suggesting myasthenia gravis or inflammatory myopathy. Postexercise reflex facilitation is a bedside clinical sign that points to a diagnosis of the rarer alternative, Lambert-Eaton myasthenic syndrome (LEMS). We confirmed this diagnosis using electrodiagnostic short exercise testing and serum assay for voltage-gated calcium channel antibodies. Further investigation identified a small cell neuroendocrine carcinoma of the gallbladder, not previously associated with LEMS. Postexercise reflex facilitation is an important bedside clinical finding that helps clinicians to distinguish LEMS from its mimics.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"338-341"},"PeriodicalIF":2.4,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139643097","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
Lessons and pitfalls of whole genome sequencing. 全基因组测序的教训和陷阱。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-16 DOI: 10.1136/pn-2023-004083
Christopher J Record, Mary M Reilly
{"title":"Lessons and pitfalls of whole genome sequencing.","authors":"Christopher J Record, Mary M Reilly","doi":"10.1136/pn-2023-004083","DOIUrl":"10.1136/pn-2023-004083","url":null,"abstract":"<p><p>Whole-genome sequencing (WGS) has recently become the first-line genetic investigation for many suspected genetic neurological disorders. While its diagnostic capabilities are innumerable, as with any test, it has its limitations. Clinicians should be aware of where WGS is extremely reliable (detecting single-nucleotide variants), where its reliability is much improved (detecting copy number variants and small repeat expansions) and where it may miss/misinterpret a variant (large repeat expansions, balanced structural variants or low heteroplasmy mitochondrial DNA variants). Bioinformatic technology and virtual gene panels are constantly evolving, and it is important to know what genes and what types of variant are being tested; the current National Health Service Genomic Medicine Service WGS offers more than early iterations of the 100 000 Genomes Project analysis. Close communication between clinician and laboratory, ideally through a multidisciplinary team meeting, is encouraged where there is diagnostic uncertainty.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":"263-274"},"PeriodicalIF":2.4,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319371","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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