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PRACTICAL NEUROLOGY最新文献

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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":null,"pages":null},"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":null,"pages":null},"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
Lip and tongue biting in patients with a brain injury: a practical guide. 脑损伤患者咬唇和咬舌：实用指南。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-23 DOI: 10.1136/pn-2024-004210
Lily Parsons, Mili Doshi, Carmel Rice
{"title":"Lip and tongue biting in patients with a brain injury: a practical guide.","authors":"Lily Parsons, Mili Doshi, Carmel Rice","doi":"10.1136/pn-2024-004210","DOIUrl":"https://doi.org/10.1136/pn-2024-004210","url":null,"abstract":"<p><p>Patients who have sustained a profound brain injury often bite their lips and tongue, damaging their oral tissues. Lip and tongue biting usually occurs in patients with atypical oral reflexes and can lead to severe trauma to soft tissues, resulting in pain, lacerations, swelling, bleeding, ulceration and difficulties providing oral care. Due to the prevalence of lip and tongue biting, healthcare professionals involved in their care must be aware of the presentation, prevention and management, and when and how to refer to dental services.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141752972","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":null,"pages":null},"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
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":null,"pages":null},"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
Glucocorticoid prescribing in neurology. 神经内科的糖皮质激素处方。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-16 DOI: 10.1136/pn-2023-003855
Andrew P Jones, Miguel Debono, Jennifer Walsh, Cheryl Smith, Leanne Hunt, Fiona M McKevitt
{"title":"Glucocorticoid prescribing in neurology.","authors":"Andrew P Jones, Miguel Debono, Jennifer Walsh, Cheryl Smith, Leanne Hunt, Fiona M McKevitt","doi":"10.1136/pn-2023-003855","DOIUrl":"10.1136/pn-2023-003855","url":null,"abstract":"<p><p>Glucocorticoids are commonly used for neurological disorders, but they can have significant adverse effects, including adrenal insufficiency, hyperglycaemia, osteoporosis and increased infection risk. Long-term use of corticosteroids requires the prescriber to plan risk mitigation, including monitoring and often coprescribing. This article highlights the potential risks of corticosteroid prescribing and draws together up-to-date guidance with multispecialty input to clarify ways of reducing those risks. We discuss home blood glucose monitoring and consider a steroid safety checklist to promote safer steroid prescribing.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140327223","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
Fertility treatment for people with epilepsy. 癫痫患者的生育治疗。
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-16 DOI: 10.1136/pn-2023-003922
Ginette Moores, Kimberly Liu, Aleksandra Pikula, Esther Bui
{"title":"Fertility treatment for people with epilepsy.","authors":"Ginette Moores, Kimberly Liu, Aleksandra Pikula, Esther Bui","doi":"10.1136/pn-2023-003922","DOIUrl":"10.1136/pn-2023-003922","url":null,"abstract":"<p><p>Fertility treatment, including assisted reproductive technology (ART), is increasingly used. Sex hormones influence seizure control as well as interacting with antiseizure medications, and so the hormonal manipulation involved in fertility treatments has direct implications for people with epilepsy. Here, we summarise the various fertility treatments and consider their important influences on epilepsy care. While early observations raised concerns about seizure exacerbation associated with ART, there are limited data to guide best practice in people with epilepsy, and further research is needed.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139973935","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":null,"pages":null},"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
Kennedy's disease. 肯尼迪病
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-16 DOI: 10.1136/pn-2023-004041
Helen Devine, Matthew Solomons, Luca Zampedri, Michael G Hanna, Carlo Rinaldi, Pietro Fratta, Dipa Jayaseelan
{"title":"Kennedy's disease.","authors":"Helen Devine, Matthew Solomons, Luca Zampedri, Michael G Hanna, Carlo Rinaldi, Pietro Fratta, Dipa Jayaseelan","doi":"10.1136/pn-2023-004041","DOIUrl":"10.1136/pn-2023-004041","url":null,"abstract":"<p><p>A 57-year-old man developed worsening early morning headaches, muscle cramps and falls over 12 months. He had widespread fasciculation and was diagnosed with motor neurone disease, and treated with nocturnal hypoventilation. Based on this diagnosis, he made significant personal and financial decisions including retiring and selling his house. He subsequently developed a lump in his right breast and was found to have gynaecomastia. This triggered genetic testing for Kennedy's disease leading to the correct diagnosis. This case highlights an unusual presentation of a rare disease leading to misdiagnosis and major repercussions for the patient. Recent genetic analysis from the 100 000 genome project suggests Kennedy's disease may be four times more prevalent in the population than previously thought, highlighting the need to consider genetic testing, especially if there is a suggestion of multisystem disease.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140132825","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
Paroxysmal dysarthria-ataxia syndrome. 阵发性呼吸困难-共济失调综合征
IF 2.4
PRACTICAL NEUROLOGY Pub Date : 2024-07-16 DOI: 10.1136/pn-2023-004023
Marija Cauchi, Janice Abela, Nicola Dingli, Norbert Vella
{"title":"Paroxysmal dysarthria-ataxia syndrome.","authors":"Marija Cauchi, Janice Abela, Nicola Dingli, Norbert Vella","doi":"10.1136/pn-2023-004023","DOIUrl":"10.1136/pn-2023-004023","url":null,"abstract":"<p><p>Paroxysmal dysarthria ataxia syndrome presents with recurrent, brief, stereotyped events of dysarthria, limb clumsiness, unsteady gait and vertigo or dizziness that can occur in association with lesions in the midbrain. We describe a case of a woman presenting with paroxysmal dysarthria and ataxia secondary to a midbrain lesion, treated successfully with carbamazepine.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139997741","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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