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. All patients showed breathing disorders in sleep. The average number of apneic spells was 73.4 per night; 77% of the patients had more than 50 apneic spells per night. Abnormal breathing patterns were not uniform and were independent of patient's primary complaints. Typically, even severe respiratory irregularities were not associated with the usual cardiac response, indicating that our patients had "cardiac dysautonomia".
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Gadoth N,Sokol J,Lavie Pdoi
10.1016/0022-510x(83)90131-4subject
Has Abstractpub_date
1983-07-01 00:00:00pages
117-25issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(83)90131-4journal_volume
60pub_type
杂志文章abstract：:An X-linked myopathy was recently associated with mutations in the four-and-a-half-LIM domains 1 (FHL1) gene. We identified a family with late onset, slowly progressive weakness of scapuloperoneal muscles in three brothers and their mother. A novel missense mutation in the LIM2 domain of FHL1 (W122C) co-segregated wit...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.06.017
更新日期：2010-09-15 00:00:00
abstract：:The enzyme-linked immunosorbent assay (ELISA) was used to determine levels of specific IgG antibodies against measles, rubella, vaccinia, corona (OC43) and mumps viruses in cerebrospinal fluid (CSF) and serum of 18 patients with clinically definite multiple sclerosis (MS), 8 patients with optic neuritis (ON), 27 patie...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(82)90031-4
更新日期：1982-12-01 00:00:00
abstract：:Out of 66 patients who were diagnosed as suffering from polymyalgia rheumatica (PMR; n = 40), temporal arteritis (AT; n = 14) or both (n = 12) in a 6.5 year period (incidence 3.4/100,000 per year), 9 died and 49 were followed up for an average period of 28 months. Exacerbations of the illness (n = 24) and complication...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(92)90105-t
更新日期：1992-08-01 00:00:00
abstract：OBJECTIVES:To determine the impact of disease progression on health-related quality of life in amyotrophic lateral sclerosis (ALS). METHODS:A total of 161 patients with ALS were enrolled. Assessments included the revised ALS Functional Rating Scale and the ALS Assessment Questionnaire (ALSAQ-40). Data analysis compris...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.12.035
更新日期：2019-02-15 00:00:00
abstract：:Psychiatric disorders seem to be more frequent in patients with epilepsy (PWE) than the general population. Although researchers have documented a strong association between epilepsy and psychiatric comorbidities, the nature of this relationship is poorly understood. According to this, psychiatric diseases are often u...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2014.05.043
更新日期：2014-08-15 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 relationship between dementia with Lewy bodies (DLB) and Parkinson's disease with dementia (PDD) has been insufficiently described, and it is still problematic. Twenty-nine cases of DLB and 10 cases of PDD were investigated in the present study. DLB cases disclosed a significantly older disease onset and shorter d...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(03)00220-x
更新日期：2003-12-15 00:00:00
abstract：:We present 2 patients in whom the predominant neurological complication following lightning strike was spinal cord injury. One patient, who was followed for 5 years, showed clinical, electrophysiologic and MRI evidence of cervical spinal cord injury. This patient had significant recovery, which in part, may be related...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.09.020
更新日期：2009-01-15 00:00:00
abstract：:HLA-A, B, and C antigens were determined in 52 patients with idiopathic Parkinson's disease and HLA-D antigens in 29 patients. In comparison with a representative sample of the Finnish general population, no significant deviations in HLA types of patients with Parkinson's disease were found. The patients with a slowly...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90100-3
更新日期：1981-08-01 00:00:00
abstract：INTRODUCTION:This study assessed the Health Related Quality of Life (HRQOL) of individuals with Friedreich Ataxia (FRDA) through responses to HRQOL questionnaires. METHODS:The SF-36, a generic HRQOL instrument, and symptom specific scales examining vision, fatigue, pain and bladder function were administered to indivi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.116642
更新日期：2020-03-15 00:00:00
abstract：:Few data exist on the effects of specific Alzheimer's disease (AD)-related mutations on cognitive function. We present neuropsychological test results in eight members of a large kindred with variant Alzheimer's disease (VarAD) due to a deletion of the presenilin 1 (PS-1) gene, encompassing exon 9. The disease was neu...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2003.10.020
更新日期：2004-03-15 00:00:00
abstract：PURPOSE:This study aimed to provide an updated overview of primary central lymphoma (PCL) using a large cohort of 33 years. That being said, we attempted to examine the patient demographics, management plans and their outcome, causes of death and the time trends in overall incidence and mortality rates of these patient...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116890
更新日期：2020-08-15 00:00:00
abstract：PURPOSE:This study aimed to develop a conceptual understanding of the specific characteristics of palliative care in neurology and the challenges of providing palliative care in the setting of neurological illness. METHOD:The study was conducted at London Health Sciences Centre in Canada using grounded theory methodol...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.12.008
更新日期：2018-02-15 00:00:00
abstract：OBJECTIVES:To characterize the clinical, demographic and epidemiological features of MS patients from the only specialised MS centre in Iraq. METHODS:Data for consecutive Iraqi MS patients attending the Baghdad Multidiscipline MS Clinic between 2000 and 2002 who fulfilled Poser et al. criteria for clinically definite ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.03.033
更新日期：2005-07-15 00:00:00
abstract：:Polyglutamine (poly-Q) diseases are late-onset neurodegenerative disorders arising from the expansion of an unstable CAG repeat in the affected gene, which is translated to a tract of glutamine residues. This kind of mutant proteins may be aggregated and accumulated, and thereby enhance cellular oxidative stress. In o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.07.016
更新日期：2008-01-15 00:00:00
abstract：:The outcome of outpatient neurologic consultations has not been previously evaluated. There is also no data regarding patients' perceptions of outpatient neurologic consultations. In this study, we assessed the physician's evaluations of the outcome and utility of neurologic consultations by reviewing office records o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.09.036
更新日期：2009-01-15 00:00:00
abstract：:Severe weakness of lower cranial and girdle muscles has been found in 4 subjects among 20 dialysis patients treated with carnitine in order to correct their high plasma triglyceride level. Neurophysiological investigation showed an impairment of neuromuscular transmission with short-term reduction of evoked muscle res...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(80)90061-1
更新日期：1980-06-01 00:00:00
abstract：:In order to compare the efficacy of a daily dose of 300 mg hydroquinine hydrobromide and placebo in preventing frequent ordinary muscle cramp, we designed a randomized, double-blind, placebo-controlled study of three consecutive 2-week periods viz. a qualification period, a medication period and a wash-out period. Twe...
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(94)90294-1
更新日期：1994-04-01 00:00:00
abstract：:Unilateral retrobulbar optic neuritis developed in a 43-year-old man with acquired immune deficiency syndrome (AIDS). This was secondary to varicella zoster virus (VZV) as confirmed by cerebrospinal fluid (CSF) polymerase chain reaction (PCR) detection of VZV in the cerebrospinal fluid. There was no typical cutaneous ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.05.005
更新日期：2005-10-15 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：PURPOSE:To investigate the direct and indirect associations of sleep hygiene with daytime sleepiness, depressive symptoms, and quality of life (QoL), in newly diagnosed, untreated patients with mild obstructive sleep apnea (OSA). METHODS:Data were collected from adults with mild OSA. The Sleep Hygiene Index (SHI), Sle...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.10.017
更新日期：2015-12-15 00:00:00
abstract：:Glucose-6-phosphate dehydrogenase (G6PDH), 6-phosphogluconate dehydrogenase (6PGDH) and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) activities were assayed in superficial pectoral muscles of hereditary dystrophic chickens, 1 week, 2 weeks, 4 weeks and 4 months after hatching. In control chickens, activities of G6...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90049-8
更新日期：1985-04-01 00:00:00
abstract：:We report a 2-year-old girl who presented with delayed development, weakness and persistent vomiting. She had a demyelinating peripheral neuropathy. The activity of cytochrome oxidase in skeletal muscle from the patient was 10% of controls. Immunochemical studies using antibodies to holo-cytochrome oxidase and the ind...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90251-1
更新日期：1988-11-01 00:00:00
abstract：:Motor evoked potentials (MEP) were recorded and characterized by epidural electrodes (scMEP) and extracellular microelectrodes (exMEP) on T(13) level from 10 normal rats and 40 rats with chronic spinal cord injury (SCI). The spinal cord of 40 anesthetized rats were injured with various severity (sham, 35, 70, and 100 ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00545-7
更新日期：2001-08-15 00:00:00
abstract：BACKGROUND AND OBJECTIVE:Multiple sclerosis (MS) has been consistently associated with the HLA-DR2 haplotype and particularly with the HLA-DRB1*15 allele. Epistatic interactions between both parental alleles in the DRB1 loci have been shown to modify the MS susceptibility risk. This study investigated the frequencies o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.07.026
更新日期：2010-11-15 00:00:00
abstract：BACKGROUND:Multiple sclerosis (MS) patients commonly suffer from fatigue and define it as one of their most disabling symptom profoundly disrupting their lives. However, the relationship of fatigue to cognitive functions and its impact on quality of life have not been widely studied. AIM:To define (1) "cognitive fatig...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.09.015
更新日期：2006-06-15 00:00:00
abstract：:The mechanisms primarily responsible for the degenerative processes occurring in dystrophic skeletal muscle remain unresolved. The identification of the mechanisms that lead to the complete sparing of extraocular muscle in dystrophinopathies is of particular interest. A number of studies have provided evidence to sugg...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：
更新日期：1996-08-01 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 expression of class II antigen was studied in sural nerve biopsies from patients with peripheral neuropathies. These included patients with chronic demyelinating polyradiculoneuropathy (CIDP), non-immune mediated neuropathies of diverse etiologies and controls without evidence of neuropathy. The major finding in C...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90065-f
更新日期：1991-04-01 00:00:00
abstract：:Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive spasticity and weakness of the lower-limbs (pure SPG) and, majoritorian, additional more extensive neurological or non-neurological manifestations (com...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2012.03.025
更新日期：2012-07-15 00:00:00
