摘要:

Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disorder caused by mutations in the dystrophin gene. The lack of adequate therapy for this disease provides impetus for the development of gene therapy strategies. A recombinant dystrophin cDNA and animal models of the disease are available for this therapy development. Characterization of these reagents and current progress toward gene therapy for DMD will be described.

ISSN:0014-3022    

DOI:10.1159/000117035

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Seizures are very frightening events. Nearly one in every ten individuals will have a seizure sometime during his or her life, but many of them will never have another attack. Seizures are sufficiently dramatic and unsettling that most patients are brought to medical attention and many ultimately come to neurologists for advice. Since one seizure does not make a patient an epileptic, should doctors always wait for a second attack before treating with anticonvulsants? Alternatively, since the recurrence rate is quite high, and some believe that seizures may damage the brain, treatment of all patients with a single seizure has been advocated. But if so, for how long? Is it appropriate to treat some patients and not others, and if so what should be the criteria for treatment? I asked three experienced epilepsy experts to respond to the issue of treating a single seizure. These consultants are Dr. J.W.A.S. Sander, from the National Hospital-Chalfont Centre for epilepsy and the Institute of Neurology, London, Dr. E.B. Bromfield, the director of the epilepsy program at the Brigham and Women’s Hospital, Harvard University, Boston, and Dr. I.E. Leppik of the Minnesota Comprehensive Research Center and the Epilepsy Research Program at the University of Minnesota in Minneapoli

ISSN:0014-3022    

DOI:10.1159/000117036

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The objective of this study was to characterize the cognitive status of a population of asymptomatic HIV-positive drug addicts (patient group) to document the relationship between neuropsychological results and cerebral blood flow defects as measured by single photon emission computed tomography. As a control group we employed an age-matched population of HIV-seronegative drug addicts. Some neuropsychological differences were found between patients and controls and between drug addicts and normal population. We could not detect any difference in cerebral blood flow rates among HIV-1-positive and -negative drug addicts.

ISSN:0014-3022    

DOI:10.1159/000117037

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The efficacy of dexamethasone (DX) and methylprednisolone (MP) at high (HD) and low (LD) dose in acute multiple sclerosis (MS) relapses was evaluated by a double-blind trial in 31 patients followed for 1 year. DX and HDMP were similarly efficacious in promoting recovery, while LDMP was ineffective in the short-term outcome and was followed by an early clinical reactivation. The different outcomes seem to be related to different immunomodulating effects, mainly on cerebrospinal fluid (CSF) IgG synthesis and on peripheral blood and CSF CD4+ lymphocyte subsets.

ISSN:0014-3022    

DOI:10.1159/000117038

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The objective of the study was to evaluate the relation between every-night (habitual) snoring, sleep apnea and cognitive complaints (concentration and memory problems) in an adult population-based sample. In the Dan-MONI-CA (MONItoring trends in CArdiovascular diseases) 1,504 males and females aged 30, 40, 50 and 60 years were classified according to their snoring habits. Nocturnal respiration was measured in 748 participants. The following measures were regarded as potential confounders: age, gender, unintended sleepiness, insomnia, depression, hypnotic use, alcohol and tobacco consumption by questionnaire, body mass index (BMI) and blood pressure. Concentration and memory problems were both related to depression, insomnia and unintended sleepiness. Snoring and sleep apnea (defined as a respiratory distress index – RDI ≧ 5), were associated with concentration problems and unintended sleepiness. The odds ratios (95% confidence intervals) between snoring, concentration and memory problems, calculated by logistic regression analysis after adjustments of the above confounders, were 1.90 (1.23-2.91, p < 0.01) and 1.38 (0.97-1.99, NS). For those with sleep apnea, the odds ratios were 3.53 (1.42-8.73, p< 0.001) and 1.51 (0.81-2.14, NS) for concentration and memory problems, respectively. The main conclusion drawn from this study is that cognitive complaints show a high correlation to mood, insomnia and hypersomnia. Habitual snoring and sleep apnea show a correlation to concentration problems, but not to memory complaints. This suggests that part of the association between snoring, sleep apnea and cognitive dysfunction is related to the presence of sleep disturbances and daytime sleepin

ISSN:0014-3022    

DOI:10.1159/000117039

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Myelopathy is a rare complication of chronic liver disease associated with extensive portal-systemic shunt of blood. Its main clinical feature is a spastic paraparesis without sensory or sphincteric impairment. We describe 3 patients who presented hepatic myelopathy following the performance of a portacaval shunt.

ISSN:0014-3022    

DOI:10.1159/000117040

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Concentrations of carbamazepine (CBZ) and its metabolite carbamazepine-10,11-epoxide (CE) were determined in serum (free and total), brain tumors and paratumorous cortex from 37 epileptic patients. Tumor biopsies were available from 25 different gliomas, 5 hamartomas and 1 angioma. The free serum concentrations of CBZ and CE were highly correlated with the corresponding paratumorous concentrations (r = 0.94 and r = 0.93) and to a lower extent with the tumorous concentrations (r = 0.78 and r = 0.75). For CBZ the concentration ratios paratumorous cortex/serum free and tumor/serum free showed no significant differences between CBZ-resistant and -nonresistant patients. Apart from histological grade a significant influence of type and site of the tumors on their CBZ and CE concentration was not recognizable. The results indicate that resistance to CBZ therapy cannot be sufficiently explained by decreased paratumorous or tumorous levels of CBZ and CE.

ISSN:0014-3022    

DOI:10.1159/000117041

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

We studied the serum Gm allotype of 58 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and 236 nonrelated normal controls in Japan. The incidences of the Gm phenotype and haplotype in the patients were not significantly different from those in the normal controls. When CIDP was classified into two subgroups in terms of clinical course, the chronic relapsing (CR) and chronic nonrelapsing type (CNR), the distribution of all Gm haplotypes was significantly different between CR and CNR (total X2= 8.319; corrected p < 0.05). Our findings suggest that the clinical course of CIDP may be associated with the Gm haplotype.

ISSN:0014-3022    

DOI:10.1159/000117042

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Various detergents used in preparative membrane protein chemistry were added to a complete Freund’s adjuvant/water emulsion in order to increase the solubility and/or immunologic availability of the Mycobacterium tuberculosis membrane and to explain its role in blood-brain barrier (BBB) permeability. Magnetic resonance imaging was used for in vivo determination of the BBB breakdown and cerebral edema. The results showed that with 1% 10 tridecyl ether, which increases emulsion stability, abundant BBB breakdown and cerebral edema were observed, similar to those encountered in experimental allergic encephalomyelitis (EAE). We suggest that the immunologic response triggered off by M. tuberculosis largely contributes to the BBB permeability changes observed during EAE, probably by an action on the endothelial cells of the cerebral blood vessel

ISSN:0014-3022    

DOI:10.1159/000117043

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

See-saw nystagmus (SSN) is a relatively uncommon oculomotor disorder, most often associated with parasellar or chiasmal lesions, although it has also been described in several other conditions. To date, SSN has not been reported in clinically definite multiple sclerosis (MS). We present a patient with clinically definite MS who subsequently developed SSN. Possible mechanisms of SSN are discussed. MS should be considered in the differential diagnosis of SSN.

ISSN:0014-3022    

DOI:10.1159/000117044

出版商:S. Karger AG    

年代:1994

数据来源: Karger