摘要:

ABSTRACT—Increased prevalence of cleft lip with or without cleft palate (CL(P)), isolated cleft palate (CP), and congenital heart defects (CHD) in children of epileptic mothers have been ascribed to early fetal exposure to antiepileptic drugs (AED). However, common genetic factors responsible for both the malformations in question and the epileptic disorder might be of relevance for the increased rate of CL(P), CP, and CHD, rather than the influence of AED. The present review analyzes the literature on genetic and environmental etiologic factors (i.e. AED and epileptic seizures) that have been reported to increase the rate of CL(P), CP, and CHD in children of parents with epilepsy. Our data suggest that genetic factors are of minor importance for the etiology of facial clefts in offspring of epileptic patients. The rate of facial clefts was increased by a factor of 4.7 in children of AED treated mothers with epilepsy compared with the background population values. Children of fathers with epilepsy and sibs of epileptic patients had no more facial clefts than expected. The rate of CHD in children of mothers and fathers with epilepsy was comparable to population figures. The role of epileptic seizures as a causative factor for CL(P), CP, and CHD is not settled, but seems to be of limited importance. Areas of future research are outlined concerning the teratogenic role of AED and their metabolites, especially on the postnatal intellectual development of the exposed children. Finally, the need for studies on prophylactic measures as well as the necessity of international surveillance systems on new AED teratogenicity are emphasize

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03814.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—The role of a calcium‐mediated increase in vascular resistance and of vascular damage caused by polymorphonuclear leukocytes (PMNLs) in the development of neurologic deficit and disturbance of spinal cord circulation following spinal cord compression was studied in the rat. Spinal cord injury was induced by 5 min of compression with a load of 35 g on a 2.2 × 5.0 mm compression plate. This caused transient paraparesis. The rats received either the calcium receptor antagonist nimodipine or an anti‐rat neutrophil serum (ANS). Nimodipine was infused i.v. for 4 h in an amount of 1.5 μg/kg/min starting 60 min after trauma. The number of circulating PMNLs was depleted by intraperitoneal injection of an ANS raised in sheep given 12 h before trauma. This caused a reduction to about 2% of the pre‐ANS value. Controls received saline or normal sheep serum. The motor performance was assessed daily on the inclined plane. On day one, the day after injury, the capacity angle had decreased from about 63° preoperatively to close to 32° in the experimental groups. There was then a slow improvement in both the control and experimental groups and on day 4 the capacity angle was close to 43° in all 3 groups. Spinal cord blood flow, as measured with thel4C‐iodoantipyrine autoradiography method, was similar in all groups on day 4. As neither the neurologic dysfunction nor the spinal cord blood flow was affected by post‐trauma treatment with nimodipine or pretreatment with ANS, the possiblity that calcium‐mediated vasoconstriction or PMNLs play a role in the development of posttraumatic neurologic disability was not suppo

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03815.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—From 21 patients with spinocerebellar degeneration 5 had markedly decreased glutamate dehydrogenase (GDH) activities and high values of serum plasma glutamate level after oral glutamate loading tests. Skin fibroblasts from patients with GDH deficiency showed intracellularly higher glutamate and lower glutathione contents than those from controls and showed significantly decreased viability in L‐glutamate‐containing medium. These data suggest that glutamate toxicity may at least play a part in this degeneration pr

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03816.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—Autoradiography of brain slices from 4 multiple sclerosis (MS) and 9 control patients was performed. After 6 weeks of exposure the exact picture of the white matter appeared on the X‐ray films in all cases with MS, but only in one of the controls. The high level of autoradiographic signal from MS white matter suggests that an abnormal accumulation of radioactive trace elements takes place within the brains of MS vict

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03817.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—Atrial fibrillation (AF) is associated with an increased risk of stroke. In patients with chronic AF, without clinically known cerebrovascular disease, computed tomography (CT) has revealed a high frequency of abnormal low‐density areas suggesting old asymptomatic infarcts. To investigate the frequency of such lesions in paroxysmal AF, 30 patients with paroxysmal AF and 30 controls matched in sinus rhythm, without history of cerebrovascular disease, were CT scanned. Four patients with paroxysmal AF (13%) and 3 controls (10%) had abnormal CT scans with areas of low density with sharp demarcation from surrounding tissue. The abnormal areas probably reflected small, clinically silent infarcts. There were no differences between paroxysmal AF and controls in number and size of abnormal areas with apparent tissue loss. In contrast to chronic AF, the risk of such lesions in paroxysmal AF does not seem to be increased compared with matched sinus rhythm controls. This is in agreement with the clinical experience of a low risk of stroke in paroxysmal

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03818.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—We examined the effect of short‐term treatment with pharmacological doses of vitamin D2or vitamin D3on the serum concentration of 1,25(OH)2D metabolites in epileptic patients on chronic anticonvulsant drug therapy. Nine patients were studied before and after treatment with vitamin D24000 IU daily for 24 weeks and 10 before and after treatment with vitamin D3in the same dose. Before treatment the serum concentrations of 1,25(OH)2D and 25(OH)D were significantly lower in epileptics than in normal subjects (P<0.01). Vitamin D2treatment increased the serum concentration of 1,25(OH)2D2, but a corresponding decrease in 1,25(OH)2D3resulted in an unchanged serum concentration of total 1,25(OH)2D. The serum concentration of 25(OH)D2and 25(OH)D increased significantly, whereas there was a small decrease in 25(OH)D3. Vitamin D3treatment did not change the serum concentration of 1,25(OH)2D3whereas serum 25(OH)D3increased significantly. The correlation between the serum ratio of 1,25(OH)2D2/1,25(OH)2D3and 25(OH)D2/25(OH)D3estimated on vitamin D2‐treated epileptic patients and normal subjects was highly significant (P<0.01). The data indicate that the serum concentration of 1,25(OH)2D2and 1,25(OH)2D3are directly proportional to the amount of their precursors 25(OH)D2and 25(OH)D3and that the concentration of total 1,25(OH)2D is tightly regu

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03819.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—Two patients with Parkinson's disease were treated with 1 g tetrahydrobiopterin (BH4) for 5 days. Clinical improvement was not observed. In the cerebrospinal fluid (CSF) a 4–8 fold increase in the concentration of homovanillic acid (HVA), and a 3‐fold increase in the concentration of 5‐hydroxyindole acetic acid (5‐HIAA) was measured. However, the concentration of HVA reached, was only approximately half as high, as that of patients treated with madopar (DOPA + benserazid). In urine, the excretion of HVA increased 13–37 fold, when the patients were treated with madopar, whereas no increase in the HVA excretion was measured after the BH4administration. Additionally, 2 patients with Parkinson's disease were treated with 1 g BH4in combination with 15 g tyrosine for 3 days, and 1 parkinsonian patient was treated with 15 g tyrosine daily for 7 weeks. No increase in the CSF concentrations of HVA or 5‐HIAA was observed. The results suggest, the BH4in the dosage used, is not effective in the treatment of Parkin

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03820.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—We studied a Becker muscular dystrophy (BMD) family with a manifesting carrier. Proximal muscle weakness, pseudohypertrophy of the calves, significantly elevated serum creatine kinase and dystrophic alterations in the muscle biopsy were the characteristic phenotypical features of this manifesting carrier. The recombinant DNA study showed a recombinant chromosome with a crossover between pERT 87–8 and pERT J‐Bir in the manifesting carrier. However, the proximal part of the short arm of her X chromosome was identical to a non‐manifesting carrier (her sister) and to her affected brother. For this reason, we assumed the BMD mutation was proximal to the crossover. The dystrophin cDNA probes showed no deletion of DMD/B

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03821.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—Amyloid protein in Icelandic patients with hereditary cerebral amyloid angiopathy (CAA) is a variant of cystatin C. Immunoreactivities of the cystatin C and other amyloid proteins were investigated in CAA and other senile amyloid deposits in the Japanese sporadic aged cases including patients with dementia of Alzheimer type, and compared with those in Icelandic hereditary CAA. Compared with positive reaction of cystatin C in Icelandic hereditary CAA, no immunoreactivity of cystatin C was found in senile amyloid deposits of the Japanese aged including CAA. Immunoreactivity of the amyloid β protein was negative in Icelandic hereditary CAA, for which CAA and senile plaque amyloid in the Japanese senile brains were positive. Our data suggest that the cystatin C amyloid would be present only in the hereditary CAA, but not in the CAA and other senile amyloid deposits of the sporadic aged cas

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03822.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

ABSTRACT—By raising the body temperature of 0.5°C the critical fusion frequency of a flickering light increases in normal subjects but decreases in multiple sclerosis (MS) patients. The change was present in 14 patients with definite MS and in 5 of 10 patients with probable MS. No clinical worsening was observed during the procedure or in the following hou

ISSN:0001-6314    

DOI:10.1111/j.1600-0404.1989.tb03823.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY