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排序方式: 共有795条查询结果,搜索用时 15 毫秒
71.
72.
Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions 总被引:1,自引:0,他引:1
PURPOSE: To determine if defects in mitochondrial respiratory chain enzyme complexes (MRCs) contribute to the etiology of childhood epilepsy. METHODS: We reviewed the clinical and laboratory features of 48 epileptic patients (23 male, 25 female) with MRC defects that were confirmed by biochemical assays using muscle biopsies. RESULTS: (1) Thirty-five cases (72.9%) were MRC I deficient, one case (2.1%) was MRC II deficient, 11 cases (22.9%) were MRC IV deficient, and one case (2.1%) had combined MRC I and IV deficiencies. (2) In our clinical diagnosis, there were 10 cases (20.8%) with Leigh disease and one case each with myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS) or Alpers' disease (2.1%). Most of the remaining cases (75.0%) had uncategorized mitochondrial cytopathy with nonspecific encephalopathy. (3) For epileptic classification, there were two cases (4.2%) of Ohtahara syndrome, 10 cases (20.8%) of West syndrome, 12 cases (25.0%) of Lennox-Gastaut syndrome, two cases (4.2%) of Landau-Kleffner syndrome, 14 cases (29.2%) of generalized epilepsy, and eight cases (16.7%) of partial epilepsy. (4) The mean age of seizure onset was 2.68 +/- 2.21 (range: 1 month - 5.5 years). (5) Magnetic resonance imaging (MRI) showed diffuse cortical atrophy in 34 cases (70.8%), basal ganglia signal changes in 18 cases (37.5%) and thalamus signal changes in 12 cases (25.0%). (6) A ketogenic diet produced clinical improvements, including seizure reduction and global functional improvement in 75% of 24 patients. CONCLUSIONS: MRC defects are one of the important causes of probably symptomatic childhood epilepsy. A ketogenic diet should be carefully considered for treatment of intractable epilepsy related to MRC defects. 相似文献
73.
Hoon-Chul Kang Ji Won Kwon Young Mock Lee Heung Dong Kim Hong Jin Lee Si Houn Hahn 《Child's nervous system》2007,23(11):1301-1307
OBJECTIVES: This study sought to characterize epileptic phenotypes in children with nonspecific mitochondrial disease (MD) and to evaluate MD diagnostic approaches. METHODS: A retrospective analysis of the medical, electroencephalogram, and laboratory records of 142 patients with epilepsy was performed. The patients were evaluated for MD, and 124 patients were included in the final cohort. The MD criteria used included an oral glucose lactate stimulation test (OGLST) and urine organic acid/plasma amino acid (UOA/PAA) assays as metabolic indicators of modified Walker criteria, as suggested by Bernier et al. (Neurology 59:1406-1411, 2002). RESULTS: Twenty-two patients were classified as having definite MD (9), probable MD (5), possible MD (6), or pyruvate dehydrogenase (PDH) deficiency (3), including one patient which showed a respiratory chain (RC) defect and PDH deficiency. Seven out of eight patients in whom significant RC defects were observed showed complex I defects. In 14 patients, epileptic seizures start at infantile ages. Of 17 patients who substantially presented generalized seizures, 4 patients started with partial seizures. Five patients consistently presented only partial seizures. The OGLST and UOA/PAA assays were useful for a more precise diagnosis of MD, although low positive predictive value of the OGLST was regrettable. No patient was classified as definite MD by Walker's original criteria, but the use of our revised MD criteria resulted in the classification of nine additional patients as definite MD. CONCLUSIONS: MD manifested considerable diverse epileptic phenotypes and should be considered in the differential diagnosis of epilepsy in children with unexplained encephalomyopathy and progressive and fluctuating clinical courses. 相似文献
74.
75.
Injury has become a major cause of death and disability world-wide. Systematic approaches to its prevention and treatment are needed. In terms of treatment, there are many low-cost improvements that could be made particularly in low- and middle-income countries to strengthen their trauma systems. These can be formalised under "Essential Trauma Care" programme, similar to other global programmes for major public health problems. World Health Organisation (WHO), leading the initiative in this direction, convened a meeting at Geneva in June 2002, involving Injuries and Violence Prevention Department of the WHO, the Working Group for Essential Trauma Care of the International Association for Trauma and Surgical Intensive Care (IATSIC), representatives of other organisations and trauma care clinicians representing Africa, Asia, and Latin America. The meeting developed a preliminary list of Essential Trauma Care services and a model template for the skills and equipment needed to assure them. It is intended to be used to assist individual countries in planning their own trauma care services. 相似文献
76.
Cesium chloride-induced torsades de pointes 总被引:1,自引:0,他引:1
Matthew Wiens Wendy Gordon Daisy Baulcomb Andre Mattman Tom Mock Robert Brown 《The Canadian journal of cardiology》2009,25(9):e329-e331
The chloride salt of cesium, a group 1A element, is gaining popularity as an alternative treatment of advanced cancers. Cesium chloride has primarily been used in cardiovascular research for arrhythmogenesis in animals because of its potassium-blocking effects. The present report describes a 45-year-old woman with metastatic breast cancer who experienced repeated episodes of torsades de pointes polymorphic ventricular tachycardia after several months of oral cesium therapy. There was a clear temporal relationship between cesium ingestion and the arrhythmia, which later resolved following discontinuation of cesium therapy. Serial cesium plasma and whole blood levels were measured over the ensuing six months and pharmacokinetic analysis was performed. 相似文献
77.
D H Campbell A J Plant J W Sargent P A Mock E R Barrett K H Archer 《The Medical journal of Australia》1991,154(4):253-256
A seroprevalence survey of markers of hepatitis B virus (HBV) infection in children aged 0-16 years was conducted in a mixed-race township in western New South Wales. A total of 408 children were screened representing 95% of the total 0-16-year-old population. Of the Aboriginal subjects, 69% had seromarkers which indicated previous infection with HBV and 14% were hepatitis B surface antigen (HBsAg) seropositive. In the non-Aboriginal subjects the prevalence of seromarkers was 10% with no subjects HBsAg positive. The township provided an ideal setting for studying possible crossinfection from children in a high risk (Aboriginal) population group to children in a low-risk (non-Aboriginal) group. The ratio of children in the high-risk group for HBV infection to those in the low-risk group was approximately 2.7:1. Although HBsAg was highly endemic in the Aboriginal population, the data indicate that little crossinfection has occurred. We conclude that in this and similar mixed-race communities action should be taken to accelerate vaccination programmes aimed at reducing HBV infection among neonates and children in the high-risk groups. This will provide an immediate overall reduction of potential risk to both high-risk and low-risk groups while the issue of universal vaccination is considered further. 相似文献
78.
The expression of the placental form of glutathione S-transferase (GST-P) using anti-rat liver GST-P antibody was investigated in hamster buccal pouch mucosa (HBPM) treated with 0.5% dimethylbenz[a]anthracene (DMBA) biweekly for 12 weeks. This preliminary study showed that the anti-rat liver GST-P antibody is applicable to the HBPM model and that DMBA treatment induced GST-P positive foci. These foci are randomly distributed and frequently involved the hyperplastic and dysplastic segments of the epithelium, as well as squamous cell carcinoma. Further study is needed to explore the kinetics of these GST-P positive foci. 相似文献
79.
The current recommendation for safe and adequate daily dietary intake of biotin for infants is based on measurements of biotin concentration in human milk and calculations of biotin intake that tacitly assume that biotin content of human milk is reasonably uniform for a given subject. This assumption of uniformity was tested by examining the effects of several factors on the biotin concentration. The degree of breast emptying had little effect on biotin concentration. However, in three of five individuals studied, the biotin concentration varied significantly over 24 h. In two of five subjects, there was a consistent difference between breasts of approximately 16%. In the first 18 d postpartum, the milk concentration of biotin increased steadily in four of the eight individuals studied, remained low in two and increased erratically in two. Rather than reaching a stable plateau in mature milk, biotin concentration varied substantially in most of the subjects. These observations provide evidence that an adequate scheme for estimating total biotin intake of the breastfed infant will require sampling from both breasts frequently over the 24-h cycle and frequently as a function of time postpartum. 相似文献
80.
Using data from the Coronary Artery Surgery Study (CASS) registry, we evaluated the relationship between cholesterol levels measured at enrollment and the following events: all-cause mortality, cardiac death, fatal myocardial infarction (MI), and nonfatal MI. Only patients with a significant coronary artery disease (at least one lesion with stenosis > or = 50%) were considered for this study. Results presented for mortality are for a period of up to 11.5 years and those for MI are for a maximum of 8 years of follow-up. Analyses were performed for each type of event and for each subgroup: women (n = 1861) and men (n = 10,941) under age 65, and women (n = 426) and men (n = 1144) age 65 or older. After adjusting for important covariates, cholesterol level was not associated with cardiac or all-cause mortality. No relationship between cholesterol level and fatal or nonfatal MI could be demonstrated except for men under age 65. However, in this subgroup the risk of MI was highest for those with low or middle cholesterol levels. The data show that in patients with angiographically determined coronary artery disease, cholesterol level is not a statistically significant risk factor for death or MI over the follow-up period in CASS. 相似文献