Abstract：
:A 52-year-old Caucasian male with typical features of myotonic dystrophy (MD) developed a lung abscess and was found to have a mild atypical cyclic neutropenia. Granulocyte function testing revealed a defect in phagocytosis, bactericidal activity and chemotaxis. The defects were less severe at the nadir of the granulocyte counts. Skin windows demonstrated that the granulocyte defects were not just an in vitro artifact. The patient was treated with lithium carbonate and improved. Mobilization into a skin window and clinical MD were unchanged. Studies of his 10 children and 2 siblings, including granulocyte function tests and complete neurological evaluations were obtained. The 4 children with abnormal parameters of granulocyte function all had definite evidence of MD. Two children had equivocal findings of MD and the others were normal. There was minimal evidence of granulocyte dysfunction in these children. Twelve of 19 unrelated patients with MD had evidence of impaired granulocyte function with the most consistent defect being chemotaxis in response to bacterial factor. Mild granulocyte dysfunction is frequently associated with MD, but severe dysfunction with many defects is uncommon but can occur, as in this family. There was a tendency for the more severely afflicted members of this family to have more pronounced granulocyte dysfunction. Longitudinal testing in this family may determine any relationship between the granulocyte dysfunction and the onset of MD, as well as any correlation with the progression of the disorder. MD patients who develop infection should have granulocyte function tests as part of their evaluation.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Friedenberg WR,Marx JJ Jr,Hansotia P,Gottschalk PGdoi
10.1016/0022-510x(86)90057-2subject
Has Abstractpub_date
1986-03-01 00:00:00pages
1-10issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(86)90057-2journal_volume
73pub_type
杂志文章abstract：:The N-methyl-D-aspartate (NMDA) receptor is a subtype of ionotropic glutamate receptor that is involved in synaptic mechanisms of learning and memory, and mediates excitotoxic neuronal injury. In this study, we tested the hypothesis that NMDA receptor subunit gene expression is altered in Alzheimer's disease (AD), esp...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00087-4
更新日期：2002-08-15 00:00:00
abstract：OBJECTIVE:To determine the sensitivity and specificity of clonal immunoglobulin heavy chain gene rearrangement (IGHR) analysis in the distinction of benign and malignant lymphoproliferative diseases. METHODS:A retrospective analysis was conducted of patients in whom a malignant lymphoproliferative process was suspecte...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.044
更新日期：2006-09-25 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90054-4
更新日期：1975-12-01 00:00:00
abstract：:Encephalitogenic activity of myelin basic protein (MBP) isolated in a form retaining binding to all myelin lipids was tested in Lewis rats. Immunization with this new stable lipid-bound and native-like preparation (LB-MBP), induced experimental autoimmune encephalomyelitis (EAE) as intensively as the classical lipid f...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90196-6
更新日期：1993-10-01 00:00:00
abstract：:A 52-year-old male presented with right sudden deafness and left isolated limb sensory disturbance following posterior neck pain. An examination revealed a mild degree of right sensory neural hearing loss and decreased pain and thermal sensation in the left side below the L3 level. Brain MRI showed a small lesion in t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.05.026
更新日期：2007-12-15 00:00:00
abstract：BACKGROUND:Cognitive impairment (CI) is frequently observed in Parkinson's disease (PD) and negatively influences the patient's and carer's quality of life. As a first step, assessment of CI is often accomplished by using screening instruments (level I diagnosis). Three commonly used instruments are the Mini-Mental Sta...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116735
更新日期：2020-05-15 00:00:00
abstract：BACKGROUND:Global cerebral ischemia followed by reperfusion, leads to extensive neuronal damage, particularly the neurons in the hippocampal CA region. Recent studies have demonstrated that pharmacological agents, such as Nigella sativa L. (Ranunculaceae) that is an annual herbaceous flowering plant, given at the time ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.019
更新日期：2014-02-15 00:00:00
abstract：:The ability of galantamine (Reminyl) to inhibit the aggregation and toxicity of the beta-amyloid peptide (Abeta) was investigated. Galantamine showed concentration-dependent inhibition of aggregation of both Abeta 1-40 and Abeta 1-42, as determined by an ELISA method. Electron microscope studies of Abeta 1-40 incubate...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.01.024
更新日期：2009-05-15 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90200-4
更新日期：1979-02-01 00:00:00
abstract：:Administration of retinoic acid (RA) prevented the development of experimental allergic encephalomyelitis (EAE) in Lewis rats. RA suspended in corn oil was given for 3 days before the expected onset of the disease to rats immunized with myelin and to controls. The drug suppressed the neurological symptoms as well as t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90220-6
更新日期：1987-08-01 00:00:00
abstract：BACKGROUND:The pathogenesis of PD remains elusive. The renin-angiotensin-system (RAS) has recently been implicated in the degeneration of dopaminergic neurons. This study aimed to compare plasma levels of components of the RAS of individuals with PD with controls. We also investigated the association between these circ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.07.031
更新日期：2016-09-15 00:00:00
abstract：BACKGROUND:Insulin-like growth factor-I (IGF-I) has been shown to protect against stroke in rats when administered intracerebroventricularly. However, this invasive method of administration is not practical for the large number of individuals who require treatment for stroke. Intranasal (IN) delivery offers a noninvasi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00532-9
更新日期：2001-06-15 00:00:00
abstract：:Neurological injuries produced by explosive blasts are the result of a cascade of events that begin with the initial explosion and evolve from the secondary, tertiary, and quaternary effects that the explosion engenders [Lavonis EJ. Blast Injuries. EMedicine.htm]. Only the results of the primary blast are predictable,...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2006.06.005
更新日期：2006-11-01 00:00:00
abstract：:We report the clinical features, electrophysiological findings and genetic characteristics of the first two Taiwanese siblings ever reported with sialidosis type I. We also provide a 10-year follow-up result. Enzymological analysis revealed a primary sialidase deficit. The back-averaged electroencephalography demonstr...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.03.013
更新日期：2006-08-15 00:00:00
abstract：:We studied a 53-year-old woman with progressive weakness of the left arm, gradually spreading to the other limbs. Neurological examination revealed a motor neuron syndrome with paresis, fasciculations and atrophy. Electrophysiological studies showed multiple motor conduction blocks. The anti-GM1 IgM titer was elevated...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(95)00295-d
更新日期：1996-03-01 00:00:00
abstract：:Opsoclonus-myoclonus syndrome (OMS) is characterized by opsoclonus and arrhythmic-action myoclonus that predominantly involves the trunk, limbs, and head. Human herpes virus-6 (HHV-6) can rarely cause encephalitis in immunocompetent children and adults. Here we report on a case of OMS associated with HHV-6 rhomboencep...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.04.013
更新日期：2014-06-15 00:00:00
abstract：:Ideomotor apraxia (IMA) is a disorder traditionally characterized by deficits in properly performing tool-use pantomimes (e.g., pretending to use a hammer) and communicative gestures (e.g., waving goodbye). These deficits are typically identified with movements made to verbal command or imitation. Questions about this...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.04.014
更新日期：2007-09-15 00:00:00
abstract：INTRODUCTION:The underlying pathophysiology of neurological complications in patients with hemolytic-uremic syndrome (HUS) remains unclear. It was recently attributed to a direct cytotoxic effect of Shiga toxin 2 (Stx2) in the thalamus. Conventional MRI of patients with Stx2-caused HUS revealed - despite severe neurolo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.06.045
更新日期：2015-09-15 00:00:00
abstract：:Asia is the most populous region in the world and its rapidly growing societies are the sources of global development. However, accompanying this rapid growth is aging of the population with increasing occurrence of diseases, of which dementia is the most prominent, which provide major challenges to healthcare systems...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2012.07.023
更新日期：2012-10-15 00:00:00
abstract：BACKGROUND:Previous studies regarding the association between restless legs syndrome (RLS) and Parkinson's disease (PD) have produced contradictory results. However, the time frame between them has varied across these studies, and also, the longitudinal trajectroy of RLS symptoms has not been considered. OBJECTIVE:To ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.08.028
更新日期：2018-11-15 00:00:00
abstract：BACKGROUND:Stroke is one of the most disabling and burdensome health conditions worldwide, but no prospective population-based study has been conducted in Spain. Our aim was to assess age- and gender incidence rates of cerebrovascular disease, including stroke and transient ischemic attack, in three populations in cent...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.08.003
更新日期：2010-11-15 00:00:00
abstract：OBJECTIVE:The aim of the present systematic review is to critically evaluate the effectiveness of OMT as an adjuvant therapy in the management of patients with neurological diseases. METHODS:A systematic review was conducted and the findings were reported following the PRISMA statement. Twelve databases were searched ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2016.08.062
更新日期：2016-10-15 00:00:00
abstract：:The retrovirus that causes the acquired immunodeficiency syndrome (AIDS) has two targets: the immune system and the nervous system. Central nervous system (CNS) manifestations of AIDS are protean. This review describes the opportunistic infections and malignancies that affect the nervous system in AIDS, and discusses ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(89)90013-0
更新日期：1989-02-01 00:00:00
abstract：:The diagnosis of vascular dementia (VaD) remains a controversial issue in many aspects and concepts. These nosologic problems are caused both by the methods, insufficient to ascertain the diagnosis, as well as by the weak consistency of the clinical concept of VaD itself. One of the most intriguing issues on VaD, and ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.01.055
更新日期：2007-06-15 00:00:00
abstract：:The neurobiological mechanisms underlying the development of post-traumatic stress disorder (PTSD) remain elusive. One of the hypotheses is the dysfunction of serotonin (5-HT) neurotransmission, which is critically regulated by serotonin transporter (SERT). Therefore, we hypothesized that attenuation of SERT gene expr...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.11.056
更新日期：2016-01-15 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：:A 70-year-old woman had complex behavioural changes of sudden onset. The symptoms consisted of indifference, docility and inappropriate urination, but predominantly in a lack of attention. She was unable to maintain the attention necessary to perform a goal-directed activity and she was distracted by any stimulus, suc...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90107-6
更新日期：1981-08-01 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：:An ultrastructural study of a case of sacral chordoma is reported. The cell type was monomorphic. The epithelial nature and the secretory function of the tumour cells was obvious in view of their content of desmosomes and the presence of mucopolysaccharide in the ergastoplasm and in the extracellular space. Because of...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90157-4
更新日期：1975-07-01 00:00:00
abstract：BACKGROUND AND PURPOSE:Dementia after first clinical stroke frequently has been found, but the clinical and radiological correlates have not been fully detailed. We examined magnetic resonance imaging (MRI) correlates of dementia in a large well-defined series of patients with first clinical ischemic stroke. METHODS:D...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00437-8
更新日期：2000-12-01 00:00:00
