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Biochemical and clinical studies of Friedreich's ataxia   总被引:1,自引:1,他引:0       下载免费PDF全文
A series of biochemical tests aimed at elucidating the fundamental cause has been applied to 20 patients with Friedreich's ataxia. Special emphasis was placed upon pyruvate metabolism. The results demonstrate no precisely identifiable defect in the metabolism of pyruvate but indicate an abnormality in glucose uptake and metabolism.  相似文献   
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Expression in the rat forebrain of immediate early genes belonging to the fos and jun families was investigated at various time points following an intrastriatal infusion of quinolinic acid. Fos immunoreactivity was rapidly and transiently induced, exhibiting maximal intensity 2 h post-lesion, and was principally located in neuronal nuclei situated around the periphery of the lesioned striatum, in regions that subsequently show little, if any, neurodegeneration. Fos immunoreactivity was additionally expressed throughout the ipsilateral cortex. In contrast, Jun immunoreactivity, which remained undetectable for 12 h after the lesion, reached its maximal intensity 24 h post-lesion, at which time it was most densely distributed in neuronal nuclei found within the central lesioned areas of the striatum. In situ hybridization analysis using radiolabeled oligonucleotide probes confirmed this spatial and temporal separation between c-fos and c-jun expression within the striatum and extended it further, showing that, whilst jun mRNA displayed very similar expression characteristics to those of c-fos mRNA, both fos B mRNA and jun D mRNA exhibited induction patterns closely resembling those of c-jun mRNA. These results clearly suggest that two distinct programmes of immediate early gene expression can be induced in vivo. The rapid (2 h) and transient induction of c-fos/jun B may well be a response to NMDA receptor activation, whereas the molecular signal for the late (24 h) and sustained induction of c-jun/ fos B/jun D is currently a focus for our investigations.  相似文献   
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The spouses of a group of aged sufferers have been demonstrated to have multifarious differences relevant to parkinsonism from matched controls, which were difficult to explain by selective mating, learned or reactive behaviour. Could parkinsonism be transmissable? The frequency of inflammation and scaling on head or neck was greater (P = 0.05) in these spouses (19 available) than in controls (36), the best discriminating site of inflammation being scalp (P = 0.02). Both seborrhoeic dermatitis and overt, or pre-clinical, parkinsonism occurred in sufferers and spouses: to presume they are not causally related is to accept multiple entities. In favour of seborrhoeic dermatitis being causal for parkinsonism, rather than vice versa, is the involvement of a known organism, Pityrosporum ovale, in the dermatitis, and that the evidence of parkinsonism in the spouses indicated that they were only part way down the path towards the clinical condition.  相似文献   
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Recent reviews of interprofessional education (IPE) highlight the need for innovative curricula focused on longitudinal clinical learning. We describe the development and early outcomes of the initial clinical experience (ICE), a longitudinal practice-based course for first-year medical students. While IPE courses focus on student-to-student interaction, ICE focuses on introducing students to interprofessional collaboration. Students attend 14 sessions at one of 18 different clinical sites. They work directly with different health professionals from among 17 possible professions, including nurses, pharmacists, social workers, and respiratory, occupational, and physical therapists. Between 2015 and 2016, 167 students completed the course, and 81 completed the end-of-course evaluation. Students agreed or strongly agreed that ICE meaningfully contributed to their understanding of healthcare teams and different professional roles (86%), improved their understanding of healthcare systems (84%), improved their ability to communicate with healthcare professionals (61%), and improved their ability to work on interprofessional teams (65%). Select themes from narrative comments suggest that clinical immersion improves understanding of professional roles, helps students understand their own future roles in healthcare teams, and increases awareness of and respect for other professionals, with the potential to change future practice. ICE may be a template for other schools wishing to expand their current educational offerings, by engaging learners in more authentic, longitudinal clinical experiences with practicing healthcare professionals.  相似文献   
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