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991.
Hartmut H.‐J. Schmidt MD Fabio Barroso MD Alejandra González‐Duarte MD Isabel Conceição MD Laura Obici MD Denis Keohane MD Leslie Amass PhD 《Muscle & nerve》2016,54(3):353-360
Transthyretin familial amyloid polyneuropathy (TTR‐FAP) is a rare, severe, and irreversible, adult‐onset, hereditary disorder caused by autosomal‐dominant mutations in the TTR gene that increase the intrinsic propensity of transthyretin protein to misfold and deposit systemically as insoluble amyloid fibrils in nerve tissues, the heart, and other organs. TTR‐FAP is characterized by relentless, progressively debilitating polyneuropathy, and leads to death, on average, within 10 years of symptom onset without treatment. With increased availability of disease‐modifying treatment options for a wider spectrum of patients with TTR‐FAP, timely detection of the disease may offer substantial clinical benefits. This review discusses mutation‐specific predictive genetic testing in first‐degree relatives of index patients diagnosed with TTR‐FAP and the structured clinical follow‐up of asymptomatic gene carriers for prompt diagnosis and early therapeutic intervention before accumulation of substantial damage. Muscle Nerve 54 : 353–360, 2016 相似文献
992.
Anna‐Isabel Schlagowski PhD Marie‐Eve Isner‐Horobeti MD PhD Stéphane P. Dufour PhD Laurence Rasseneur PhD Irina Enache MD PhD Evelyne Lonsdorfer‐Wolf MD PhD Stéphane Doutreleau MD PhD Anne Charloux MD PhD Fabienne Goupilleau Isabelle Bentz Anne Laure Charles PhD Blah Y. Kouassi PhD Joffrey Zoll PhD Bernard Geny MD PhD Fabrice Favret PhD 《Muscle & nerve》2016,54(5):925-935
Introduction: The goal of this study was to compare the effects of downhill (DH), uphill (UH), and UH‐DH exercise training, at the same metabolic rate, on exercise capacity and skeletal muscle mitochondrial function. Methods: Thirty‐two Wistar rats were separated into a control and 3 trained groups. The trained groups exercised for 4 weeks, 5 times per week at the same metabolic rate, either in UH, DH, or combined UH‐DH. Twenty‐four hours after the last training session, the soleus, gastrocnemius, and vastus intermedius muscles were removed for assessment of mitochondrial respiration. Results: Exercise training, at the same metabolic rate, improved maximal running speed without specificity for exercise modalities. Maximal fiber respiration was enhanced in soleus and vastus intermedius in the UH group only. Conclusions: Exercise training, performed at the same metabolic rate, improved exercise capacity, but only UH‐trained rats enhanced mitochondrial function in both soleus and vastus intermedius skeletal muscle. Muscle Nerve 54 : 925–935, 2016 相似文献
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Isabel Conceição Alejandra González‐Duarte Laura Obici Hartmut H.‐J. Schmidt Damien Simoneau Moh‐Lim Ong Leslie Amass 《Journal of the peripheral nervous system : JPNS》2016,21(1):5-9
Transthyretin familial amyloid polyneuropathy (TTR‐FAP) is a rare, progressive, life‐threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin‐derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR‐FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, symptom clusters suggesting TTR‐FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR‐FAP should be suspected if progressive peripheral sensory‐motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR‐FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large‐ and small‐fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed. 相似文献
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997.
Tau phosphorylation‐associated spine regression does not impair hippocampal‐dependent memory in hibernating golden hamsters
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Torsten Bullmann Gudrun Seeger Jens Stieler János Hanics Katja Reimann Tanja Petra Kretzschmann Isabel Hilbrich Max Holzer Alán Alpár Thomas Arendt 《Hippocampus》2016,26(3):301-318
The microtubule‐associated protein tau, in its hyperphosphorylated form, is the major component of paired helical filaments and other aggregates in neurodegenerative disorders commonly referred to as “tauopathies”. Recent evidence, however, indicates that mislocalization of hyperphosphorylated tau to subsynaptic sites leads to synaptic impairment and cognitive decline even long before formation of tau aggregates and neurodegeneration occur. A similar, but reversible hyperphosphorylation of tau occurs under physiologically controlled conditions during hibernation. Here, we study the hibernating Golden hamster (Syrian hamster, Mesocricetus auratus). A transient spine reduction was observed in the hippocampus, especially on apical dendrites of hippocampal CA3 pyramidal cells, but not on their basal dendrites. This distribution of structural synaptic regression was correlated to the distribution of phosphorylated tau, which was highly abundant in apical dendrites but hardly detectable in basal dendrites. Surprisingly, hippocampal memory assessed by a labyrinth maze was not affected by hibernation. The present study suggests a role for soluble hyperphosphorylated tau in the process of reversible synaptic regression, which does not lead to memory impairment during hibernation. We hypothesize that tau phosphorylation associated spine regression might mainly affect unstable/dynamic spines while sparing established/stable spines. © 2015 Wiley Periodicals, Inc. 相似文献
998.
Face recognition ability varies widely in the normal population and there is increasing interest in linking individual differences in perception to their neural correlates. Such brain-behavior correlations require that both the behavioral measures and the selective BOLD responses be reliable. The reliability of the location of the fusiform face area (FFA) has been demonstrated in several studies. Here, we address reliability of a different kind: reliability of the magnitude of responses to faces within this localized region. We calculated split-half reliability of face-selective responses within functionally defined posterior and anterior face-selective patches in the fusiform gyrus (FFA1/FFA2). We used data from two published studies that included both a functional localizer for face-selective regions and independent data suitable for quantifying face-selectivity. We found highly reliable face selectivity in both hemispheres that was highest in the centermost voxel(s) compared to larger regions of interest. Differences in face-selectivity between the two face patches within one hemisphere and across hemispheres were also reliable. Our results reveal considerable reliability of face-selective signals in and across FFA in adults. Given the good reliability of behavioral measures of face recognition, prior failures to find a relationship between the mean response to faces in FFA and behavioral face recognition in normal adult subjects are unlikely to be due to limitations of the measurements. 相似文献
999.
Background
Intravenous (IV) fluid therapy should be individualized according to each patient's weight, disease, and comorbidities, as well as the type and duration of the operative procedure. Laparoscopic cholecystectomy represents one of the most common, short-duration operations; thus, the aim of this study was to assess the necessity of postoperative administration of IV fluids.Method
A randomized clinical trial with patients undergoing elective laparoscopic cholecystectomy was performed. Patients were randomly assigned to control group (IV fluids at the surgeon's discretion) and study group (no IV fluids after the operation). Body weight and composition, total intravenous fluids, urinary output, creatinine levels, and the presence of thirst and hunger were assessed. Costs related to the administration of postoperative IV fluids were measured.Results
The study and control groups were similar with regard to sex distribution, age, and general characteristics. There was a significant difference in the amount of infused IV fluids (1,600?mL vs 3,000?mL), directly related to the amount offered postoperatively to the control group. Weight, extracellular water, and urinary output (1,257?±?736?mL vs 888?±?392?mL; P?<?.05) were increased in the control group, and this was positively correlated with the volume of infused fluids (r?=?0.333). There were no differences in creatinine levels, thirst, hunger, and well-being features. An average of 10.7 minutes per patient of nursing time was required for IV administration. Cost related to IV fluids was increased in the control group.Conclusion
Postoperative intravenous fluids are not necessary in patients undergoing laparoscopic cholecystectomy, and their use is associated with increased nursing time and costs. 相似文献1000.
In vitro interactions of approved and novel drugs against Paecilomyces spp 总被引:3,自引:0,他引:3
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Ortoneda M Capilla J Pastor FJ Pujol I Yustes C Serena C Guarro J 《Antimicrobial agents and chemotherapy》2004,48(7):2727-2729
We have evaluated the in vitro activity of 15 combinations of antifungal drugs (amphotericin B, itraconazole, voriconazole, albaconazole, ravuconazole, terbinafine, and micafungin) against four isolates of Paecilomyces variotii and three of P. lilacinus. The interaction of terbinafine with the four azoles was synergistic for 53% of the combinations, while the interactions of both amphotericin B and micafungin with the rest of antifungal agents were mainly indifferent. 相似文献