Abstract:
:Over the past year huge advances have been made in our ability to determine the genetic aetiology of many neurological diseases through the utilisation of next generation sequencing platforms. This technology is, on a daily basis, providing new breakthroughs in neurological disease. The aim of this article is to clearly describe the technological platforms, methods of data analysis, established breakthroughs, and potential future clinical and research applications of this innovative and exciting technique which has relevance to all those working within clinical neuroscience.
journal_name
Clin Neurol Neurosurgjournal_title
Clinical neurology and neurosurgeryauthors
Keogh MJ,Chinnery PFdoi
10.1016/j.clineuro.2012.09.030subject
Has Abstractpub_date
2013-07-01 00:00:00pages
948-53issue
7eissn
0303-8467issn
1872-6968pii
S0303-8467(12)00522-7journal_volume
115pub_type
杂志文章,评审abstract::The stiff person syndrome is a rare neurological disorder, difficult to diagnose and to treat. Paraneoplastic patients usually present amphiphysin antibodies but the association with anti-Ri antibodies is less known. We present a case report of paraneoplastic SPS, small cell carcinoma of the bladder and anti-Ri antibo...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2018.08.020
更新日期:2018-10-01 00:00:00
abstract:OBJECTIVES:The frequency of suboccipital injections to treat headaches has increased. The third segment of the vertebral artery is located in the suboccipital triangle and its main muscular branch, the suboccipital artery of Salmon (SAS), supplies blood to the suboccipital muscles. The purpose of this study was to radi...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2013.11.020
更新日期:2014-02-01 00:00:00
abstract:OBJECTIVE:pre-morbid patient conditions and hospitalization complications possibly play a role in status epilepticus short-term outcome, although evidence is incomplete and non-conclusive. The study's aim was to define whether comorbidities and in-hospital complications arising after status epilepticus affect its progn...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2016.12.017
更新日期:2017-03-01 00:00:00
abstract::We describe terminal changes in a long-term follow-up of a 51-year-old man with sporadic hereditary sensory and autonomic neuropathy (HSAN). From the age of 15 years onwards, he suffered from multiple painless ulcers of his feet and fingers, necessitating amputation. Neurological studies revealed almost complete senso...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/s0303-8467(03)00003-9
更新日期:2003-07-01 00:00:00
abstract::Juxta-facet cysts are relatively uncommon intraspinal lesions, causing radiculopathy, neurogenic claudication or myelopathy. To the best of our knowledge, only 4 cases of bilateral synovial or ganglioncysts were described. We report the 5th case of bilateral ganglioncysts of the lumbar spine. Generally, juxta-facet cy...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/0303-8467(92)90120-r
更新日期:1992-01-01 00:00:00
abstract::Although there is accepted criteria for migrainous infarction, the pathophysiology of this disease process remains poorly defined. Delineation of MRI characteristics of migrainous infarction may improve our understanding of the pathophysiology, diagnosis, and prognosis of this disorder. We present a case of a migraino...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2007.04.005
更新日期:2007-09-01 00:00:00
abstract:OBJECTIVE:To report the technical nuances and clinical outcomes of posterior atlantoaxial facet joint reduction, fixation and fusion (AFRF) technique as a revision procedure for BI and AAD patients with failed suboccipital decompression and large occipital bone defect. PATIENTS AND METHODS:We reviewed 32 patients with...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2020.105793
更新日期:2020-07-01 00:00:00
abstract::Glioneuronal neoplasms are rare tumors that typically affect patients in the first three decades of life. Since the publication of the World Health Organization (WHO) 2000 classification of tumors, further variants of these tumors have been reported. We present an 83-year-old gentleman who presented with a history of ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,评审
doi:10.1016/j.clineuro.2005.05.006
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The prognosis of malignant middle cerebral artery infarctions (MCA) is poor. The poor prognosis is attributable to the severe cerebral edema that causes a brain herniation and death. Decompressive surgery reduces mortality and may further improve patient outcomes. However, the safety and effectiv...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2014.04.011
更新日期:2014-07-01 00:00:00
abstract:BACKGROUND AND AIMS:Myocardial infarction complicating acute ischemic stroke (IS) is associated with high mortality, but evidence guiding the acute management is scarce. In particular, data on the risk of intracerebral hemorrhage (ICH) due to early cardiac catheterization including the peri-procedural application of an...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2020.106159
更新日期:2020-11-01 00:00:00
abstract:OBJECTIVE:Longstanding overt vetriculomegaly in adults (LOVA) is a type of chronic hydrocephalus presumed to begin during infancy, which manifests in adults after a long and slow clinical course. Only a quite small number of LOVA case series have been published, controversies regarding optimal management still exist. T...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2019.05.014
更新日期:2019-08-01 00:00:00
abstract::32 patients with the chronic progressive form of the multiple sclerosis were treated with high doses of cyclophosphamide and prednisone during 20 days, to produce immunosuppression. The effect of treatment was measured by scoring three different Kurtzke scales just before treatment (1), just after treatment (II), and ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/s0303-8467(75)80007-2
更新日期:1975-01-01 00:00:00
abstract:OBJECTIVE:The aim of this single-institution cohort study is to describe clinical characteristics of patients with breast cancer brain metastases (BCBM), to investigate survival after diagnosis of brain metastases (BM), and to assess the aggressive treatments to BCBM. PATIENTS AND METHODS:We identified 134 consecutive...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2018.04.026
更新日期:2018-07-01 00:00:00
abstract:BACKGROUND:The National Institute for Health and Clinical Excellence (NICE) guidelines for multiple sclerosis (MS) recommend the time from initial presentation to first neurological evaluation to be no longer than 6 weeks, and a further 6 weeks until any necessary investigations are completed. The aim of this study was...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2013.09.025
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Decompressive hemicraniectomy is a life-saving procedure for the treatment of space-occupying middle cerebral artery infarctions (malignant stroke); however, patients may survive severely disabled. Comprehensive data on long-term sequelae outside randomized controlled trials are scarce. METHODS:...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2020.106168
更新日期:2020-10-01 00:00:00
abstract::We explored the feasibility of using subcutaneous low-molecular-weight-heparin (LMWH) injections in place unfractionated heparin (UFH) while anticoagulating patients with cerebral ischemia. In this open-labeled, prospective study, patients admitted to our hospital with transient ischemic attacks or stroke requiring an...
journal_title:Clinical neurology and neurosurgery
pub_type: 临床试验,杂志文章
doi:10.1016/s0303-8467(98)00039-0
更新日期:1998-09-01 00:00:00
abstract:OBJECTIVE:The aim of this study is to investigate vertebral body bone mineral density (BMD) changes following posterolateral fusion with transpedicular screw fixation using quantitative computerized tomography (QCT) in short and relatively long-term periods. PATIENTS AND METHODS:A retrospective study was performed to ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2016.04.014
更新日期:2016-06-01 00:00:00
abstract::Lumbosacral plexus neuropathy (LSPN) is an idiopathic clinical syndrome characterized by the sudden onset of neuropathic pain, followed by weakness and sometimes sensory disturbances in the distribution of the lumbosacral plexus. Prognosis is usually favourable, although complete recovery may take several months to ye...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,评审
doi:10.1016/s0303-8467(97)00603-3
更新日期:1997-05-01 00:00:00
abstract:OBJECTIVE:Hardware-related infection remains a major problem in patients with neurostimulation systems. The role of bacterial colonization and the formation of biofilm on the surface of implanted devices remain unclear. Here, we analysed the incidence of bacterial DNA on the surface of implantable pulse generators (IPG...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2019.105399
更新日期:2019-09-01 00:00:00
abstract:OBJECTIVE:Stent-assisted coiling is increasingly used in the treatment of acutely ruptured intracranial aneurysms. However, the optimal timing of the stent-assisted coiling remains unknown. We aimed to investigate the safety and efficacy of the Low Profile Visualized Intraluminal Support (LVIS) stent for ruptured aneur...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2020.106117
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Ventriculostomy is one of the most common neurosurgical procedures and an important tool in the treatment and monitoring of elevated intracranial pressure. Low accuracy has frequently been reported in the literature with risk of drain misplacement over 20% and with a need for reinsertion in up to 40%. As an ...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2013.05.026
更新日期:2013-10-01 00:00:00
abstract::Sjögren's syndrome (SS) is an autoimmune disease characterized by inflammatory infiltration and secondary chronic dysfunction of exocrine glands. Systemic (extraglandular) manifestations of the disease occur in one-third of the patients, including a wide spectrum of peripheral and central neurological disorders. We re...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2005.05.015
更新日期:2006-10-01 00:00:00
abstract:OBJECTIVE:The Enterprise stent is used for endovascular treatment of complex intracranial aneurysms. The purpose of this study was to evaluate delayed thromboembolic events (DTEs) that developed more than 30 days after Enterprise stent-assisted embolization (SAC) and its associated risk factors. METHODS:There were 125...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2015.05.013
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVES:To describe clinical, radiological findings, and outcome in a multiethnic population of stroke survivors with basilar artery occlusive disease (BAOC). METHODS:Forty patients with infarcts in the basilar artery (BA) territory, alive 30 days after the ictus, participated in the study. BA stenosis (>50%) or oc...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2009.11.019
更新日期:2010-04-01 00:00:00
abstract::To investigate the possible mechanism of neointimal formation in Moyamoya disease, we histologically examined the superficial temporal arteries and also investigated cultured smooth muscle cells (SMCs) from the arteries. Intimal thickening of the scalp arteries developed significantly at an early age in Moyamoya patie...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/s0303-8467(97)00046-2
更新日期:1997-10-01 00:00:00
abstract:PURPOSE:Central neurocytoma is a rare intraventricular brain tumor that affects young adults and presents with increased intracranial pressure secondary to obstructive hydrocephalus. Typically, it has a favorable prognosis after adequate surgical intervention, but in some cases the clinical course is more aggressive. I...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2007.09.023
更新日期:2008-02-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to explore the differences in clinical outcome between short-segment fixation (SSF; occiput-C2) and multi-segment fixation (MSF; occiput-C2, 3). METHODS:From January 2008 to January 2012, patients who underwent surgery for instability at the occipitocervical junction were incl...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2014.10.013
更新日期:2014-12-01 00:00:00
abstract:OBJECT:The purpose of this study was to analyze the relationship of axial diffusivity (AD) and radial diffusivity (RD) in peritumoral edema of high grade glioma, metastasis, and meningioma, and to differentiate tumor-infiltrated edema from pure vasogenic edema. MATERIALS AND METHODS:Twenty patients with high-grade gli...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/j.clineuro.2012.12.031
更新日期:2013-08-01 00:00:00
abstract::Single Photon Emission Computed Tomography (SPECT) has been used in the last five years as a method for cerebral bloodflow imaging, especially in cerebral infarction. In this study the first experiences in the Netherlands are presented. In 57.6% of our patients lesions, defined by SPECT were larger than those found by...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章
doi:10.1016/s0303-8467(86)80042-7
更新日期:1986-01-01 00:00:00
abstract::Recent studies have reported that microRNA-155 (miR-155) is linked to the clinical outcomes of many tumors. However, its role in prognosis of gliomas remains unclear. This meta-analysis aims to evaluate the prognostic value of miR-155 in the survival of patients with gliomas. Hazard ratios (HRs) with 95% confidence in...
journal_title:Clinical neurology and neurosurgery
pub_type: 杂志文章,meta分析
doi:10.1016/j.clineuro.2018.12.005
更新日期:2019-01-01 00:00:00