Abstract：
:The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome. Here we report a patient with the 3243A>G mutation presenting only recurrent muscle fatigue and elevated levels of serum creatine kinase (CK). The mother of the proband was referred to us for type 2 diabetes mellitus, muscle pain and sensorineural hearing loss. The percentage of mutation load in different tissues was similar in both subjects, except in the urinary epithelium. The mutation load in the son's urinary epithelial cells (UEC) was consistently higher (nearly 50%) than in his muscle (nearly 20%). We conclude that a correlation between the proportion of the UEC mutation load and the severity of the disease was lacking in this pedigree. The use of UEC as the tissue of choice in the noninvasive diagnosis of the 3243A>G mutation offers a very attractive alternative to muscle biopsy. Finally, our data expand the clinical spectrum of the 3243A>G mutation.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Rubegni A,Cardaioli E,Chini E,Da Pozzo P,Battisti C,Malandrini A,Federico Adoi
10.1016/j.jns.2014.01.010subject
Has Abstractpub_date
2014-03-15 00:00:00pages
232-4issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(14)00017-3journal_volume
338pub_type
杂志文章abstract：:Here, we report the observation of extrapontine lesions, in addition to the pontine lesions previously documented in a diagnosed case of hemodialysis-associated osmotic demyelination syndrome due to end-stage renal disease. The patient exhibited lesions on bilateral middle cerebellar peduncles, and had been receiving ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.10.012
更新日期：2007-02-15 00:00:00
abstract：:The activation-flow coupling describes a mechanism, which adapts local cerebral blood flow in accordance with the underlying neuronal activity. It was suggested that the mechanism helps in differentiation between Alzheimer and vascular type of dementia. We combined EEG and Doppler techniques and assessed integrity of ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.01.032
更新日期：2007-06-15 00:00:00
abstract：OBJECTIVE:To describe the clinical characteristics, delay to diagnosis and post-intervention outcomes of patients with low-flow spinal arteriovenous fistulas (SAVFs). METHODS:In this retrospective observational study, we reviewed all patients with low-flow SAVFs angiographically diagnosed at our institution between 20...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116863
更新日期：2020-06-15 00:00:00
abstract：BACKGROUND:Anosmia is common in Coronavirus disease 2019, but its impact on prognosis is unknown. We analysed whether anosmia predicts in-hospital mortality; and if patients with anosmia have a different clinical presentation, inflammatory response, or disease severity. METHODS:Retrospective cohort study including all...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117163
更新日期：2020-12-15 00:00:00
abstract：:Hallucinations and psychosis can be a part of Parkinson's disease and are considered to be a nonmotor symptom or a neuropsychiatric complication of the disease. Hallucinations of different modalities and delusions can occur beyond the common visual hallucinations. The various types of hallucinations and psychotic symp...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2017.01.014
更新日期：2017-03-15 00:00:00
abstract：:Multiple studies on cerebral ischemia have been performed in animal models to propose different strategies of neuroprotection that mitigate either the early or late consequences of the disease. These therapies have been successful in reducing the volume of infarction, the proinflammatory cascade, and the amount of fre...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2019.116547
更新日期：2020-01-15 00:00:00
abstract：INTRODUCTION:Controversy persists on the best treatment to control ocular myasthenia gravis (OMG) and reduce conversion to generalized myasthenia gravis (GMG). We hypothesized that low dose prednisone could accomplish both in a cohort of OMG patients followed after three years. METHODS:We reviewed the records of 168 p...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117274
更新日期：2021-01-15 00:00:00
abstract：:Predicting clinical outcome is one of the major and most interesting issues in MS patients. If the global evolution of disability (usually chosen levels on the Kurtzke's Disability Status Scale) has been widely studied, much less is known about the progression of disability during the secondary progressive phase of th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(02)00426-4
更新日期：2003-02-15 00:00:00
abstract：BACKGROUND AND AIM:Cerebral hemiatrophy (CHA) is a congenital or acquired loss of volume in one hemisphere of the brain. The MR findings of the affected hemisphere have been a subject of many studies, however, the contralateral hemisphere has not been investigated. There is, in fact, an integrity between two hemisphere...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.02.055
更新日期：2016-04-15 00:00:00
abstract：BACKGROUND:The term "small fiber sensory neuropathy" (SFSN) refers to an axonal sensory polyneuropathy predominantly affecting cutaneous sensory modalities, often associated with pain and with no evidence of large fiber involvement. We hypothesized that, in most patients, SFSN is the earliest manifestation of a nonspec...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(03)00175-8
更新日期：2003-10-15 00:00:00
abstract：PURPOSES:The control of spasticity is often a significant problem in the management of patients with stroke. The aim of this study was to evaluate the effect of acupuncture treatment on the spastic states of stroke patients. SETTING:An outpatient Acupuncture Department in the First Teaching Hospital of Tianjin Univers...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/j.jns.2008.09.018
更新日期：2009-01-15 00:00:00
abstract：BACKGROUND:Ifosfamide is an alkylating agent useful in the treatment of a wide range of cancers including sarcomas, lymphoma, gynecologic and testicular cancers. Encephalopathy has been reported in 10-40% of patients receiving high-dose IV ifosfamide. OBJECTIVE:To highlight the role of electroencephalogram (EEG) in th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.10.018
更新日期：2014-01-15 00:00:00
abstract：BACKGROUND:The impact of deep brain stimulation (DBS) on cognitive and urinary disorders, falls, and eventually hospitalizations and mortality in Parkinson's disease (PD) is still debated. OBJECTIVE:We compared the rates of dementia, mild cognitive impairment (MCI), urinary incontinence, nocturia, falls, hospitalizati...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2019.07.029
更新日期：2019-10-15 00:00:00
abstract：:In order to produce a model of ischemic neuropathy with neural microvascular alterations, sodium laurate was injected into a femoral artery and saline into the contralateral artery at the mid-thigh level in Sprague-Dawley rats aged 11 weeks. In view of the dose-related findings, 0.3 mg sodium laurate dissolved in 0.1 ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90026-u
更新日期：1993-12-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Post-conditioning with volatile anesthetics can create ischemic tolerance against cerebral ischemia-reperfusion injury. The present study was designed to determine whether delayed exposure to sevoflurane could induce ischemic tolerance and if this effect was dependent on increasing phosphorylated...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.12.011
更新日期：2015-01-15 00:00:00
abstract：:Putative etiology was studied in 991 patients with symptomatic localization-related epilepsies seen in a university hospital in South India. They formed 39% of patients with various types of epilepsies and epileptic syndromes seen during the study period. Seizure occurred in close temporal association with an acute ce...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00093-8
更新日期：1998-06-11 00:00:00
abstract：:Whether the primary mechanisms of migraine are vascular or neurogenic is, as yet, unresolved. In humans it is still unclear whether sumatriptan acts via constriction of dilated arteries or through other mechanisms. Doppler sonography is a non-invasive method for measuring blood flow velocities (BFV), an indirect marke...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/0022-510x(95)00344-2
更新日期：1996-06-01 00:00:00
abstract：:Leucine-rich repeats and immunoglobulin-like domains (LRIG) 3 gene is mapped to chromosome 12q13.2, a region that is frequently deleted in a subset of glioblastoma multiforme (GBM). It has been reported that perinuclear LRIG3 staining correlated with low WHO grade of glioma and better survival of the patients. However...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.02.015
更新日期：2015-03-15 00:00:00
abstract：:We describe a 56-year-old man who had a progressive pseudobulbar palsy, spastic tetraparesis, forced laughing and disturbance of voluntary eyelid closure, and was clinically compatible with chronic progressive spinobulbar spasticity. Magnetic resonance images (MRI) revealed atrophy of the bilateral motor cortices and ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90131-6
更新日期：1990-05-01 00:00:00
abstract：:Tuberous sclerosis (TS) is caused by point mutations in the TSC1 or TSC2 genes on chromosomes 9q33-34 or 16p13, respectively. Clinical manifestations can be quite variable but are primarily limited to cutaneous, neurologic, and cardiovascular abnormalities. Phenotypes range from neurologically devastated to those with...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2004.02.009
更新日期：2004-06-15 00:00:00
abstract：BACKGROUND:We hypothesized that physical activity (PA), which is often associated with reduced risk of ischemic stroke, may also be associated with reduced risk of subclinical cerebral infarcts. OBJECTIVES:We studied the cross-sectional association between PA and subclinical cerebral infarcts among African-Americans i...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2009.04.011
更新日期：2009-09-15 00:00:00
abstract：:The pattern of arterial occlusion and related lesions have been studied in 26 cases with 38 medullary infarcts. In 10 of these cases, only the intracranial vessels were examined. In the 16 other cases, the entire cerebral arterial supply was dissected. Medial infarcts were more often related to occlusion of the verteb...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(76)90051-4
更新日期：1976-05-01 00:00:00
abstract：:To elucidate the T helper 1 (Th1)/T helper 2 (Th2) balance in various inflammatory neuropathies, we measured the ratio of intracellular interferon-gamma (IFN-gamma)-positive to IL-4-positive cells (intracellular IFN-gamma/IL-4 ratio) by flow cytometry in peripheral blood CD4(+) T cells of 14 patients with mononeuritis...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00603-7
更新日期：2001-12-15 00:00:00
abstract：PURPOSE:To investigate localized cerebral function abnormalities in patients with familial cortical myoclonic tremor and epilepsy (FCMTE) using resting-state functional magnetic resonance imaging (fMRI). METHODS:Seven patients with FCMTE from a Chinese family, seven patients with essential tremor (ET), and ten healthy...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.03.005
更新日期：2015-04-15 00:00:00
abstract：BACKGROUND:Percutaneous endoscopic gastrostomy (PEG) is offered to amyotrophic lateral sclerosis (ALS) patients with severe dysphagia. Immediate benefits of PEG are adequate food intake and weight stabilization. However, the impact of PEG on survival is still uncertain. In this work we retrospectively evaluated the eff...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.02.016
更新日期：2011-05-15 00:00:00
abstract：:Intracerebral inoculation of mice with the MS strain of type 2 herpes simplex virus (HSV-2) causes a brief encephalitis associated with multifocal central nervous system demyelination. Many of the mice develop unilateral or bilateral impairment of the pupillary light reflex. We have examined the development of ocular ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90217-m
更新日期：1993-04-01 00:00:00
abstract：:We describe here a 10-year-old patient with high levels of serum IgE and inflammatory myopathy whose muscle fibers exhibit excessive autophagy. Previous studies have demonstrated surface expression of class I MHC antigens on muscle fibers from patients with inflammatory myopathy. The muscle fibers of this patients sho...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90195-d
更新日期：1991-11-01 00:00:00
abstract：:Contraction tension and kinetics of the peroneus longus muscle were studied in dogs with the Duchenne homologue, golden retriever muscular dystrophy (GRMD), in advance of evaluating localized therapies such as myoblast transplantation. Absolute and both muscle- and body-weight-corrected twitch tension in GRMD dogs wer...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90210-0
更新日期：1994-05-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Although elevated fasting blood glucose (FBG) at admission is associated with poor outcome in patients with ischemic and hemorrhagic stroke, it has not been investigated in patients with cerebral venous thrombosis (CVT). We aimed to determine the correlation between elevated FBG and severity and ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117017
更新日期：2020-10-15 00:00:00
abstract：:Quantitative analysis of motor unit potentials (MUPs) with spike triggering and averaging was performed from the mildly affected brachial biceps muscle of 18 patients with amyotrophic lateral sclerosis (ALS) and of 18 age-matched controls. The total MUP duration was only 6% higher in ALS patients than in controls (P l...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90242-f
更新日期：1990-02-01 00:00:00
