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A gene for familial hemiplegic migraine, a subtype of migraine with aura, was assigned to chromosome 19p13. In this region, we identified a brain-specific P/Q-type calcium channel α1a-subunit gene, CACNA1A, with 47 exons covering 300 kb. Sequencing of all exons and their flanking surroundings revealed polymorphic variations, including a (CA)0-repeat anti a (CAG)n-repeat in the 34 untranslated region. In patients with familial hemiplegic migraine, we found four different missense mutations in conserved functional domains. One of the mutations has occurred on two different haplotypes in unrelated familial hemiplegic migraine families. Moreover, in episodic ataxia type 2, we found two mutations disrupting the reading frame. Thus, familial hemiplegic migraine and episodic ataxia type 2 can be considered as allelic channelopathies. Involvement of this familial hemiplegic migraine locus in migraine with and without aura was demonstrated by sib-pair analysis. We showed an increase of shared marker alleles of locus D19S394 , which is tightly linked to the gene. The association between the α1A calcium channel and familial hemiplegic migraine, and the increase of shared alleles in migraine-affected sib-pairs, have uncovered a new pathway for the pathophysiology of migraine. This finding may provide a rationale for the development of specific prophylactic therapy for migraine and other (paroxysmal) cerebral disorders.  相似文献   
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A patient with a demyelinating sensory motor polyneuropathy secondary to IgM paraproteinaemia is reported. The paraprotein binds to the gangliosides GD1b, GT1b, GQ1b and GD3, all of which contain disialosyl groups with the sequence NeuAcα2–8NeuAcα2–3Gal. The paraprotein also acts as a cold agglutinin recognising the sialic-acid-dependent Pr1d antigenic determinant of the red cell membrane glycophorins. In this and in similar cases that have been reported, the coexistence of anti-Pr cold agglutinins and peripheral neuropathy suggest that they might be the causative agents of the disease.  相似文献   
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Objective: To determine differences in paraspinal muscle injury between a modified minimally invasive approach (MMIA) and a traditional operative approach (TOPA) for one‐level instrumented posterior lumbar inter‐body fusion (PLIF). Methods: From March 2006 to May 2008, a consecutive series of 91 patients who underwent a one‐level instrumented PLIF procedure using one of two different approaches (MMIA in 41 patients and TOPA in 50), and who were operated on by one group of surgeons at a single institution, was studied. The following data were compared between the two groups: surgical time, blood loss, and changes in postoperative serum concentration of creatinine kinase (CK). More than 1 year post operation, low back pain was evaluated by a visual analog scale (VAS) and the Oswestry disability index (ODI). Some patients were also evaluated by MRI to allow comparison of the preoperative and postoperative cross sectional area (CSA) and fat degeneration grades at the operative level. Results: There was no statistically significant difference in surgical time, but blood loss, serum concentration of CK, and scores of the VAS and ODI were markedly less in the MMIA group compared with the TOPA group. In the TOPA group, the postoperative CSA of the multifidus muscles was significantly smaller than it was pre‐operatively. In contrast, there was no significant difference between the pre‐ and post‐operative CSA of the multifidus muscles in the MMIA group. There was more fatty infiltration postoperatively than preoperatively in both the TOPA and MMIA groups, the increase in fatty infiltration being greater in the TOPA than in the MMIA group. Conclusion: Compared with TOPA, MMIA can significantly lessen paraspinal muscle injury, and reduce the incidence of low back pain.  相似文献   
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This study reports findings from focus group discussions with aging service providers and family caregivers about low-income ambulatory or homebound older adults' depressive symptoms and barriers to seeking treatment. It also reports the participants' suggestions about interventions for depression that can be integrated into existing aging service settings or implemented in older adults' homes, as well as the type of training the aging service providers need if they are to provide services for depression. Participants identified social isolation, loneliness, and loss and grief as major correlates of depression in older adults. Barriers to seeking treatment included older adults' denial of or lack of understanding about depression, a sense of stigma, financial worries, and lack of mobility. Suggested depression treatments included brief cognitive behavioral interventions, friendly visitors, and physical exercise. Bachelor's-level service providers expressed their need and desire for training in mental health assessment and brief psychotherapy.  相似文献   
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The “understandability phenomenon” (Blanchard, 1992 Blanchard, M. 1992. The elderly. International Review of Psychiatry, 4: 251256. [Taylor & Francis Online] [Google Scholar]) asserts that older people believe depression to be a normal consequence of old age. However, there is limited empirical evidence to support this concept. A measure was developed with community dwelling depressed and nondepressed older people that examined their belief in this concept. The “understandability phenomenon” was not related to depression but was related to older peoples' beliefs about their own aging. Depressed and nondepressed older people shared the belief that depression is an inevitable consequence of old age. The understandabilty phenomenon was endorsed by the oldest-old and particularly those living alone.  相似文献   
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By itself, glucagon-like peptide-1(GLP-1) appears to be an excellent drug for appetite control and the treatment of obesity. Unfortunately, few enzymes, such as IV dipeptidyl peptidase and renal excretin, degrade and render GLP-1 inactive within minutes. A receptor agonist, exendin-4, with a longer biological half-life than GLP-1, has been tried. Subcutaneous injection of exendin-4 or continuous IV injection of GLP-1 warrants further research and investigation.  相似文献   
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