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PRACTICAL NEUROLOGY最新文献

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Glucose transporter type 1 deficiency syndrome and paroxysmal exercise-induced dyskinesia. 葡萄糖转运体 1 型缺乏综合征和阵发性运动诱发障碍。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004118
Rawan Matar, Danielle Tang, Samuel McCall, Rajith de Silva
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引用次数: 0
Cognitive rehabilitation in posterior cortical atrophy. 后皮质萎缩的认知康复。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004259
Aida Suárez-González, Nathalie Bier, Hélène Sauvageau, Victoria S Pelak, Samrah Ahmed

Posterior cortical atrophy is an uncommon type of dementia often caused by Alzheimer's disease and characterised by progressive loss of visuospatial and perceptual abilities. Although there is no curative treatment, patients may benefit from a range of symptom-based techniques and strategies to address visuospatial deficits and apraxia, and to reduce disability. Specific techniques based on visual and tactile cues, adapted and assistive equipment, environmental modifications and skill training may help people with posterior cortical atrophy continue to carry on activities that are important to them. We share vignettes from patients treated in our clinics to illustrate the practical delivery and potential impact of these therapies.

后皮质萎缩是一种不常见的痴呆症,通常由阿尔茨海默病引起,其特征是视觉空间和感知能力的逐渐丧失。虽然目前还没有根治性的治疗方法,但患者可以通过一系列对症治疗的方法和策略来解决视觉空间障碍和失语问题,减少残疾程度。基于视觉和触觉提示的特定技术、经过调整的辅助设备、环境改造和技能训练可以帮助后皮质萎缩患者继续从事对他们来说很重要的活动。我们将分享在我们诊所接受治疗的患者的小故事,以说明这些疗法的实际效果和潜在影响。
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引用次数: 0
Bulbar oedema complicating surgery for Chiari malformation. Chiari畸形手术并发球部水肿。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004245
Alvaro Urbaneja, David Gimeno, Carlos Velasquez, Ruben Martin, Patricia Lopez Gomez
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引用次数: 0
Epidural blood patching in an anticoagulated patient with intracranial hypotension. 在一名颅内低血压的抗凝患者身上进行硬膜外充血。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004218
Gabriela Petersen, Mónica Edith Salmerón-Mercado, Karla Madrigal-Rentería, Alexandra Díaz-Alba, Víctor García-Navarro

A middle-aged man had classical clinical and radiographical features of spontaneous intracranial hypotension, refractory to conservative management. His medical history included antiphospholipid syndrome, autoimmune thrombocytopenia and recurrent thrombotic events. To reduce his risk from epidural blood patching, we stopped his anticoagulation, but he developed thrombosis. Despite therapeutic challenges, we performed a fluoroscopically guided epidural blood patch successfully at multiple levels, with significant symptom and radiological improvement maintained at 9 months. We review the place of epidural blood patching in people with spontaneous intracranial hypotension who either take anticoagulants or have coexisting blood disorders.

一名中年男子有自发性颅内低血压的典型临床和影像学特征,保守治疗无效。他的病史包括抗磷脂综合征、自身免疫性血小板减少症和复发性血栓事件。为了降低硬膜外补血的风险,我们停止了他的抗凝治疗,但他还是出现了血栓。尽管治疗面临挑战,我们还是在透视引导下成功进行了多层次硬膜外血补片,症状和影像学改善显著,并维持了 9 个月。我们回顾了硬膜外血液补片在服用抗凝药物或合并血液疾病的自发性颅内低血压患者中的应用情况。
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引用次数: 0
Acute spinal cord compression due to extramedullary haematopoiesis. 髓外造血导致的急性脊髓压迫。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004270
Maria Eduarda Slhsessarenko Fraife Barreto, João Victor Cabral Correia, Marianna P M de Moraes, Nathália Lopes da Silva, José Luiz Pedroso, Orlando G P Barsottini
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引用次数: 0
Stroke is not optional for neurologists. 中风对神经科医生来说并非可有可无。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004230
Matthew C Kiernan, Stephen M Davis
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引用次数: 0
POLG epilepsy presenting as new-onset refractory status epilepticus (NORSE) in pregnancy. 妊娠期 POLG 癫痫表现为新发难治性癫痫状态 (NORSE)。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004232
Viva Levee, Karthikeyan Sivaganesh, Andrew Schaeffer, Kushan Karunaratne

A 21-year-old woman developed explosive new-onset refractory status epilepticus when 18 weeks pregnant. She had been previously well with no history of seizures and a normal developmental history. She had initially presented with focal impaired awareness seizures but subsequently developed status epilepticus requiring intensive care unit admission and was successfully treated with multiple anti-seizure medications. Once stabilised she was stepped down to the inpatient neurology ward and then transferred to the tertiary centre for a planned late termination of pregnancy, which was the patient's choice. Following transfer, she again developed refractory status epilepticus, requiring intensive care readmission. Subsequent investigations identified a compound heterozygous POLG genetic mutation. We discuss the challenges in the acute clinical situation and important considerations in the diagnosis and management of POLG-related epilepsy.

一名 21 岁的女性在怀孕 18 周时突发新发难治性癫痫。她之前身体一直很好,没有癫痫发作史,发育史也很正常。她最初表现为局灶性意识障碍癫痫发作,但随后发展为癫痫状态,需要入住重症监护室,并成功接受了多种抗癫痫药物治疗。病情稳定后,她被转到神经内科住院病房,然后转到三级医疗中心进行计划中的晚期妊娠终止,这也是患者的选择。转院后,她再次出现难治性癫痫状态,需要再次入住重症监护室。随后的检查发现了一个复合杂合子 POLG 基因突变。我们讨论了急性临床情况下的挑战以及诊断和处理 POLG 相关癫痫的重要注意事项。
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引用次数: 0
What is rehabilitation? 什么是康复?
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-16 DOI: 10.1136/pn-2024-004384
Siobhan M Leary, Valerie L Stevenson
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引用次数: 0
Central nervous system vasculopathy: inherited or acquired? The DADA2 conundrum. 中枢神经系统血管病:遗传还是获得性?DADA2难题。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-08 DOI: 10.1136/pn-2024-004441
Sowmya Saravanan, Rajeswari Aghoram, Sunil K Narayan, Jayaram Saibaba, R Madhan

Young people with stroke require detailed investigation because uncommon causes are more likely. A 19-year-old woman presented with multiple cortical and subcortical infarcts, arterial aneurysms, anaemia and hypertension. Further evaluation identified a systemic vasculopathy secondary to a deficiency of adenosine deaminase 2, a rare treatable monogenic disorder.

年轻人中风需要详细的调查,因为不常见的原因更有可能。一位19岁的女性表现为多发性皮质和皮质下梗死,动脉动脉瘤,贫血和高血压。进一步的评估确定了继发于腺苷脱氨酶2缺乏的系统性血管病变,这是一种罕见的可治疗的单基因疾病。
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引用次数: 0
Pontocerebellar inflammation and pancytopenia. 桥小脑炎症和全血细胞减少症。
IF 2.4 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-07 DOI: 10.1136/pn-2024-004405
Alex Dudley, Derville O'Shea, Noel Fanning, Niamh Bermingham, Brian Sweeney, Simon Cronin
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引用次数: 0
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PRACTICAL NEUROLOGY
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