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1.
Nonconvulsive status epilepticus may be subdivided into generalized (absence) status and complex partial status. The latter is regarded as a rarity, whereas the former constitutes the dominant part of the hitherto reported cases. We report 10 consecutive cases of adult patients with nonconvulsive status epilepticus, all documented by ictal electroencephalographic (EEG) recordings. Five had a complex partial status; the origin of the complex partial status appeared to be frontal in four of these patients. Three had recurrent complex partial seizures with incomplete recovery between seizures, and two had more continuous symptoms. One of the latter exhibited neither motor phenomena nor automatisms. The effect of diazepam or clonazepam was immediate in all 10 cases though transient in eight. A lasting control of the status was not achieved in six patients until i.v. phenytoin was added. The difficulties in the differentiation between complex partial status and absence status despite ictal EEG recordings are discussed, illustrated by a case with seizure discharges of a focal onset which rapidly generalized. The study indicates that complex partial status may be more common and the clinical expressions of absence status more variable than hitherto recognized. 相似文献
2.
Martin N Fransson Emmanuelle Rial-Sebbag Mathias Brochhausen Jan-Eric Litton 《European journal of human genetics : EJHG》2015,23(1):22-28
To encourage the process of harmonization, the biobank community should support and use a common terminology. Relevant terms may be found in general thesauri for medicine, legal instruments or specific glossaries for biobanking. A comparison of the use of these sources has so far not been conducted and would be a useful instrument to further promote harmonization and data sharing. Thus, the purpose of the present study was to investigate the preference of definitions important for sharing biological samples and data. Definitions for 10 terms –[human] biobank, sample/specimen, sample collection, study, aliquot, coded, identifying information, anonymised, personal data and informed consent–were collected from several sources. A web-based questionnaire was sent to 560 European individuals working with biobanks asking to select their preferred definition for the terms. A total of 123 people participated in the survey, giving a response rate of 23%. The result was evaluated from four aspects: scope of definitions, potential regional differences, differences in semantics and definitions in the context of ontologies, guided by comments from responders. Indicative from the survey is the risk of focusing only on the research aspect of biobanking in definitions. Hence, it is recommended that important terms should be formulated in such a way that all areas of biobanking are covered to improve the bridges between research and clinical application. Since several of the terms investigated here within can also be found in a legal context, which may differ between countries, establishing what is a proper definition on how it adheres to law is also crucial. 相似文献
3.
Christian-Hendrik Heeger MD Jan-Eric Bohnen MD Sorin Popescu Roza Meyer-Saraei PhD Thomas Fink MD Vanessa Sciacca Bettina Kirstein MD Sascha Hatahet MD Anna Traub MD Lisbeth D. Lopez MD Michael Schlüter Karl-Heinz Kuck MD Charlotte Eitel MD Julia Vogler MD Roland Richard Tilz MD 《Journal of cardiovascular electrophysiology》2021,32(6):1553-1560
4.
Maria Hedmer Jan-Eric Karlsson Ulla Andersson Helene Jacobsson Jörn Nielsen Håkan Tinnerberg 《International archives of occupational and environmental health》2014,87(6):623-634
Purpose
Welding fume consists of metal fumes, e.g., manganese (Mn) and gases, e.g., ozone. Particles in the respirable dust (RD) size range dominate. Exposure to welding fume could cause short- and long-term respiratory effects. The prevalence of work-related symptoms among mild steel welders was studied, and the occupational exposure to welding fumes was quantified by repeated measurements of RD, respirable Mn, and ozone. Also the variance components were studied.Method
A questionnaire concerning airway symptoms and occupational history was answered by 79 % of a cohort of 484 welders. A group of welders (N = 108) were selected and surveyed by personal exposure measurements of RD and ozone three times during 1 year.Results
The welders had a high frequency of work-related symptoms, e.g., stuffy nose (33 %), ocular symptoms (28 %), and dry cough (24 %). The geometric mean exposure to RD and respirable Mn was 1.3 mg/m3 (min–max 0.1–38.3 mg/m3) and 0.08 mg/m3 (min–max <0.01–2.13 mg/m3), respectively. More than 50 % of the Mn concentrations exceeded the Swedish occupational exposure limit (OEL). Mainly, low concentrations of ozone were measured, but 2 % of the samples exceeded the OEL. Of the total variance for RD, 30 and 33 % can be attributed to within-worker variability and between-company variability, respectively.Conclusions
Welders had a high prevalence of work-related symptom from the airways and eyes. The welders’ exposure to Mn was unacceptably high. To reduce the exposure further, control measures in the welding workshops are needed. Correct use of general mechanical ventilation and local exhaust ventilation can, for example, efficiently reduce the exposure. 相似文献5.
Niklas Darin Mårten Kyllerman Anna-Lena Hård Claes Nordborg Jan-Eric Månsson 《European journal of paediatric neurology》2009,13(6):553-555
Galactosialidosis (MIM 256540) is an autosomal recessive lysosomal storage disease caused by a defect of the protective protein/cathepsin A. Increased amounts of urinary sialic acid-rich oligosaccharides are considered to be an essential diagnostic marker of the disease. We here report a patient with atypical clinical features who consistently has excreted normal amounts of sialyloligosaccharides in the urine. The boy started to have attacks of neuropathic pain associated with hyperesthesia around 1½ years of age. From 4 years of age when his vision was first tested, the patient developed progressive visual loss and at the age of 10 years, macular cherry-red spots were found. At this age, he also had a mild learning disability and clinical examination showed mild facial coarsening, increased lumbar lordosis and pyramidal signs in the legs. In conclusion, the clinical and laboratory features of this patient show that galactosialidosis may be considered in patients even in the absence of oligosacchariduria and that galactosialidosis should be regarded as a differential diagnosis in patients with neuropathic pain. 相似文献
6.
Wedlund PJ 《MLO: medical laboratory observer》2001,33(9):16-21, 23; quiz 24-5
7.
目的:研究临床药理实验室数据库中的受试者是否有遗传偏差。方法:对数据库中的受试者和随机组织的受试者进行了CYP2D6基因分型对照研究。结果:CYP2D6慢代谢者在136位随机受试者中有9人(6.6%),而在138位临床药理实验室数据库的受试者中只有1人(0.7%),两组经统计有显著性差异。推测慢代谢者因易于体会到药物毒副作用,而易于从数据库中退出,造成数据库中受试者的遗传偏差。结论:新药试验时的受试者应随机组织或对其进行基因分型分析,以确保无遗传偏差。 相似文献
8.
The CYP2C19 enzyme polymorphism 总被引:8,自引:0,他引:8
Wedlund PJ 《Pharmacology》2000,61(3):174-183
The genetic test is gradually replacing probe drugs as the primary tool for screening populations for the CYP2C19 polymorphism. A full appreciation for the clinical and toxicological relevance of this genetic variation is presently limited. Further research is needed in several areas. The development and use of 3-D models of the CYP2C19 enzyme to automate and increase the rate at which CYP2C19 substrates are identified could reap great benefits. Meanwhile, clinical research should begin to determine whether the CYP2C19 polymorphism affects therapeutic outcomes and toxicity of drugs in actual patient settings. Combining research efforts in molecular modeling, genetic testing, clinical and epidemiological research will be required if better appreciation of this genetic variation and its importance in the population at large is to emerge. 相似文献
9.
Extension of a pilot study: impact from the cytochrome P450 2D6 polymorphism on outcome and costs associated with severe mental illness 总被引:7,自引:0,他引:7
Chou WH Yan FX de Leon J Barnhill J Rogers T Cronin M Pho M Xiao V Ryder TB Liu WW Teiling C Wedlund PJ 《Journal of clinical psychopharmacology》2000,20(2):246-251
The influence of cytochrome P450 2D6 (CYP2D6) genetic variability was examined in psychiatric inpatients by evaluating adverse drug events (ADEs), hospital stays, and total costs over a 1-year period in an extension of a previously published brief report. One hundred consecutive psychiatric patients from Eastern State Hospital in Lexington, Kentucky, were genotyped for CYP2D6 expression. ADEs were evaluated by a neurologic rating scale, modified Udvalg for Kliniske Undersogelser Side Effect Rating Scale, or chart review. Information on total hospitalization days and total costs were gathered for a 1-year period. Forty-five percent of the patients received medications that were primarily dependent on the CYP2D6 enzyme for their elimination. When the analysis was restricted to just those patients in each group receiving medication heavily dependent on the CYP2D6 enzyme, the following were observed: (1) a trend toward greater numbers of ADEs from medications as one moved from the group with ultrarapid CYP2D6 activity (UM) to the group with absent CYP2D6 activity (PM); (2) the cost of treating patients with extremes in CYP2D6 activity (UM and PM) was on average $4,000 to $6,000 per year greater than the cost of treating patients in the efficient metabolizer (EM) and intermediate metabolizer (IM) groups; and (3) total duration of hospital stay was more pronounced for those in CYP2D6 PM group. Variance of hospital stays and costs calculated from these preliminary data suggests that 1,500 to 2,000 patients must be evaluated over at least a 1-year period to determine whether the CYP2D6 genetic variation significantly alters the duration of hospital stay and costs. 相似文献
10.