Abstract：
:We have investigated the muscle biopsies of 8 patients with myotonia congenita. There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnostic. Histochemical studies of fiber subtypes demonstrated a complete absence of Type 2B muscle fibers in all of our patients regardless of the type of inheritance. this is the first reporot of an entity in which there is a consistent absence of a muscle fiber type, and some speculation has been made as to the possible causes.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Crews J,Kaiser KK,Brooke MHdoi
10.1016/0022-510x(76)90116-7subject
Has Abstractpub_date
1976-08-01 00:00:00pages
449-57issue
4eissn
0022-510Xissn
1878-5883pii
0022-510X(76)90116-7journal_volume
28pub_type
杂志文章abstract：:In 13 patients with familial dysautonomia sleep recordings were obtained to investigate the possibility that autonomic nervous system dysfunction plays a role in disordered breathing during sleep. Sleep structure in some of our patients was abnormal, showing decreased amount of REM sleep and increased REM latencies. A...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90131-4
更新日期：1983-07-01 00:00:00
abstract：:The primary angiitis of the central nervous system (PACNS) is a rare and potentially fatal form of vasculitis with unknown etiology. Headache and encephalopathy are the most frequent symptoms. Neuroimaging plays an important role in the diagnosis, but the pattern of abnormal findings is not specific. In some cases bra...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.05.014
更新日期：2011-08-15 00:00:00
abstract：PURPOSE:The goal of the present study was to clarify the clinical characteristics and laboratory results of parkinsonian symptoms among patients with and without camptocormia. METHODS:Seventy-eight Parkinson's disease (PD) patients with camptocormia and 78 PD patients without camptocormia underwent a neurological exam...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2015.09.015
更新日期：2015-11-15 00:00:00
abstract：OBJECTIVE:Multiple sclerosis (MS) is a disabling idiopathic inflammatory disorder with evidence of immune dysfunction. Current therapies for MS include preparations of beta-interferon (beta IFN). We studied the gene expression patterns in peripheral blood mononuclear cells from relapsing-remitting MS patients undergoin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.02.034
更新日期：2007-07-15 00:00:00
abstract：:The gut microbiome is composed of an enormous number of microorganisms, generally regarded as commensal bacteria. Resident gut bacteria are an important contributor to health and significant evidence suggests that the presence of healthy and diverse gut microbiota is important for normal cognitive and emotional proces...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.03.027
更新日期：2019-05-15 00:00:00
abstract：:A technique called parabiotic reinnervation has been developed. This technique consisted of suturing the sectioned peripheral end of the common peroneal nerve of a normal mouse, strain 129 ReJ +/+ to that of the distal stump remaining after sectioning that same nerve in a dystrophic mouse, strain 129 ReJ dy/dy. The an...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90211-7
更新日期：1975-11-01 00:00:00
abstract：:Nitrous oxide is routinely administered to children and adults with Charcot-Marie-Tooth disease (CMT) as an anaesthetic for procedures such as nerve conduction studies and maintenance for general anaesthesia. However it is listed as a 'moderate to significant' risk of potential toxicity and worsening neuropathy in peo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.12.004
更新日期：2008-05-15 00:00:00
abstract：:The purpose of this paper is to systematically review the literature on the use of near-infrared spectroscopy (NIRS) for assessing spasticity. MEDLINE, CINAHL, and EMBASE were searched for human and/or animal studies written in the English language published until November 2018. that used NIRS to examine the hemodynam...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2020.116729
更新日期：2020-05-15 00:00:00
abstract：:We found that fused human muscle in culture supports neurotropic influenza A viral infection, as demonstrated by viral growth experiments, hemadsorption, observation of cytopathic changes and detection of intracellular viral antigen. The time of peak virion production and the appearance of cytopathic effects in these ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90101-6
更新日期：1978-01-01 00:00:00
abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disorder caused by NOTCH3 mutations, usually localized to exons 3 and 4, and characterized by recurrent subcortical infarctions, dementia and leukoencephalopathy. So far, there has been only l...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.02.011
更新日期：2006-07-15 00:00:00
abstract：:We have evaluated cortical excitability in nine patients affected by Wilson's disease (WD) using transcranial magnetic (TMS) and electric (TES) cortical stimulation and central silent period (CSP) data. A clinical score was derived from the sum of scores assigned to extrapyramidal, pyramidal and cerebellar signs. All ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00594-9
更新日期：2001-11-15 00:00:00
abstract：OBJECTIVE:Cerebral gas embolism (CGE) is a potentially catastrophic complication of central venous catheters (CVCs) manipulation or accidental disconnection, which is rarely reported in the literature. This systematic review aims to characterize the clinical manifestations, imaging features and outcome of CGE associate...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2016.01.043
更新日期：2016-03-15 00:00:00
abstract：:The scalp distribution of the response to stimulation of the tibial nerve at the medial malleolus was systematically analysed. The somatosensory evoked potential (SEP) was recorded with electrodes placed in a transversal line over the ipsilateral and contralateral postcentral gyri and in a sagittal line over the longi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90038-2
更新日期：1983-05-01 00:00:00
abstract：BACKGROUND:Blocking the activity of IL-12/23 can inhibit autoimmune diseases such as psoriasis. OBJECTIVE:We examined whether an antibody against IL-12/23, ustekinumab (UTZ) (Stelera®), used clinically in psoriasis would have similar anti-inflammatory effects in EAE after oral administration. DESIGN/METHODS:B6 mice w...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.12.011
更新日期：2016-02-15 00:00:00
abstract：PURPOSE:Brain interstitial fluid plays an important role in the excretion of metabolic waste products into the cerebrospinal fluid through perivascular spaces (PVS). To investigate the normal function of PVS in healthy elderly individuals, we assessed the relationship between PVS and white matter hyperintensity (WMH) o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.01.022
更新日期：2019-03-15 00:00:00
abstract：:Outcome after aSAH depends on several factors, including the severity of the initial event, perioperative medical management, surgical variables, and the incidence of complications. Cerebral vasospasm (CV) is ure to consistently respond to treatment, emphasizing the need for further research into the underlying mechan...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.04.046
更新日期：2007-10-15 00:00:00
abstract：:The size and the distribution of type I and tye II fibres was determined in the gluteus maximus (21 cases), gluteus medius (56 cases) and tensor faciae latae (27 cases) muscles of patients with osteoarthritis of the hip. The patients were of both sexes, aged between 37 and 64 years (younger group) and between 65 and 7...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(80)90123-9
更新日期：1980-01-01 00:00:00
abstract：:The neuropathological findings in two siblings with Menkes' disease were compared with representative material obtained from lambs suffering from swayback (enzootic ataxia). The aim of the study was to demonstrate the similarity of lesions in a genetic and a nutritional form of copper deficiency in support of the view...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90192-2
更新日期：1983-12-01 00:00:00
abstract：:To elucidate a possible role of vitamin A in the pathogenesis of Parkinson's disease (PD) we compared serum levels of retinol (vitamin A), measured by HPLC, and the vitamin A/retinol binding protein (RBP) ratio of 42 PD patients (22 males and 20 females, mean age 67.3 +/- 1.34 years) and their respective spouses as co...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90114-z
更新日期：1992-08-01 00:00:00
abstract：OBJECTIVES:Tumor necrosis factor-alpha inhibitors (TNFα-I) are biological agents used in the treatment of rheumatologic disorders. TNFα-I have been associated with demyelinating disorders mimicking multiple sclerosis. The goal of this report is to illustrate cases of myelopathy which developed during the use of TNFα-I....
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.01.023
更新日期：2017-02-15 00:00:00
abstract：:Cranial dystonia is normally considered as a pure movement disorder. Sensory symptoms have not received much attention, but we found ill-defined pain, discomfort, distortion of sensory modalities, 'phantom' kinetic or postural sensations in the orofacial areas subsequently involved by the dyskinesia in all of 11 conse...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90318-s
更新日期：1993-06-01 00:00:00
abstract：:Corticosteroids (Cs) are widely used for treatment of multiple sclerosis (MS) acute relapses because of the potent immunosuppressive and anti-inflammatory properties. As for patients with relapsing-remitting (RR) MS, short-term administrations of Cs markedly less severity of symptoms and promote faster recovery of cli...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2004.04.019
更新日期：2004-08-15 00:00:00
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 sensorineura...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.01.010
更新日期：2014-03-15 00:00:00
abstract：:In previous work we demonstrated little effect of aging on the density and spatial pattern of epidermal innervation, however, this was restricted to two sites proximal and distal in the leg. To expand on these observations, we used punch skin biopsy in ten healthy controls to examine the variation in intra-epidermal n...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00063-5
更新日期：1999-04-01 00:00:00
abstract：:Isometric contractions of single motor units in the first dorsal interosseous muscle were recorded with an intramuscular microstimulation technique in patients with short- or long-term hemiplegia and compared with controls. In the hemiplegic patients motor units could be classified as in controls, utilizing twitch con...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(82)90203-9
更新日期：1982-06-01 00:00:00
abstract：:Healthy brain tissue pulsates with the cardiac cycle, but whether brain tissue pulsations (BTPs) are impaired by tissue ischemia due to ischemic stroke is currently unclear. This study is the first to explore the clinical potential of measuring BTPs using ultrasound in acute ischemic stroke patients. BTPs were measure...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117164
更新日期：2020-12-15 00:00:00
abstract：:Low levels of muscle carnitine have been found in patients with Duchenne dystrophy, a case possibly of Becker dystrophy, and limb-girdle syndrome as well as in patients with the recently described muscle carnitine deficiency syndrome. Tissues of the mouse, hamster, and chicken were analyzed to determine whether tissue...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90251-4
更新日期：1978-08-01 00:00:00
abstract：BACKGROUND:The study aim was to evaluate the safety and efficacy of endovascular treatment (EVT) versus medical treatment (MT) in patients with symptomatic vertebral artery (VA) stenosis. METHODS:Randomized controlled trials with active and control groups receiving EVT plus MT and MT alone in patients with vertebro-ba...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析
doi：10.1016/j.jns.2018.05.024
更新日期：2018-08-15 00:00:00
abstract：:Multiple sclerosis is a chronic inflammatory disease of the white and grey matter which results in irrevocable axonal and neuronal damage. Grey matter injury is widespread and reflects disability to a greater extent than do white matter lesions. Growing understanding of the immunopathology of multiple sclerosis is lea...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/S0022-510X(11)70003-X
更新日期：2011-12-01 00:00:00
abstract：:The findings are reported of various CSF abnormalities, including IgG indices and oligoclonal IgG, in 160 patients with multiple sclerosis of differing diagnostic certainty and 146 patients with other neurological disorders. An abnormal IgG index, defined as the ratio of IgG/albumin in CSF to that in serum, has been f...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90143-0
更新日期：1983-08-01 00:00:00
