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61.
Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46, XY, -9, + DER(9)T(6:9)(p211:p24) 总被引:1,自引:0,他引:1
Melanie S. Eden James W. Thelin Karen Michalski Joyce A. Mitchell 《Clinical genetics》1985,28(5):375-384
This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p partial monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p monosomy or 6p trisomy syndromes. 相似文献
62.
Urethane anesthetized (< 1 .3 g/kg), Sprague-Dawley (SD) rats spontaneously cycled between a cortically desynchronized state (State I) and a cortically synchronized state (State III), which were very similar to awake and slow wave sleep (SWS) states in unanesthetized animals, based on EEG criteria. These low levels of urethane anaesthesia did not cause significant respiratory depression or reductions in sensitivity to hypoxia (10% O2 in nitrogen) or hypercapnia (5% CO2 in air) in rats in either State I or State III. Thus, breathing frequency (fR), tidal volume (VT) and total ventilation (VTOT) all increased on cortical activation in urethane-anaesthetized rats whether breathing air, the hypoxic or the hypercapnic gas mixture, in a manner that was very similar to that observed in unanaesthetized animals. The relative sensitivity to hypoxia was greater in State III than State I, the relative sensitivity to CO2, overall, was equal in both states, State III occurred less often during hypoxia and hypercapnia, and hypoxic, urethane-anaesthetized rats sighed frequently, particularly in State I. This is also similar to the situation seen in unanesthetized rats. Given the similarities seen between urethane anesthetized rats in the present study and literature values for unanesthetized rats, the data suggest that urethane-anaesthetized rats provide a good model system for studying respiratory patterns and chemoreflexes as a function of cortical activation state. 相似文献
63.
Robert P Lisak Joyce A Benjamins Beverly Bealmear Liljana Nedelkoska Bin Yao Susan Land Diane Studzinski 《Journal of neuroinflammation》2007,4(1):30-20
Background
In multiple sclerosis, inflammatory cells are found in both active and chronic lesions, and it is increasingly clear that cytokines are involved directly and indirectly in both formation and inhibition of lesions. We propose that cytokine mixtures typical of Th1 or Th2 lymphocytes, or monocyte/macrophages each induce unique molecular changes in glial cells. 相似文献64.
Nonspecific factors such as placebo or expectancy effects may materially influence therapeutic outcome in EMG relaxation training. Yet, controlling for the expectations of experimenters has received little attention even though Rosenthal's Experimenter Expectancy Effect is well-documented. This study examined the effects of experimenter expectancy on frontal EMG conditioning. During training, experimenters were given either no expectancy or led to believe that EMG conditioning would he either difficult (low expectancy) or easy (high expectancy) to achieve. Then, the three groups of experimenters collected data from subjects undergoing 20 min of either contingent or noncontingent reinforcement for frontal EMG decreases. Postexperimental credibility checks indicated that experimenters were unaware they were being studied but could identify their expectancy condition when informed of the three conditions. Differential EMG behavior was observed between groups conditioned by experimenters with no expectancies, with contingent subjects achieving significantly lower EMG levels than noncontingent subjects. Differences were not exhibited, however, between contingent and noncontingent subjects trained by experimenters with either low or high expectancies. These findings suggest that experimenters with prior expectations may covertly communicate to subjects response sets that interfere with acquisition of differential EMG behavior. 相似文献
65.
66.
A semi-automated method for the determination of free fatty acids in plasma based on Mosinger's manual method (Mosinger, 1965) is described and the results of a comparison with Dole's titrimetric method (Dole, 1956) are presented. There is almost perfect correlation between the two methods, and the automated technique is simple, reliable, and significantly more accurate and precise than the titrimetric method. 相似文献
67.
In Vivo Complementation of ureB Restores the Ability of Helicobacter pylori To Colonize 总被引:4,自引:0,他引:4 下载免费PDF全文
Kathryn A. Eaton Joanne V. Gilbert Elizabeth A. Joyce Amy E. Wanken Tracy Thevenot Patrick Baker Andrew Plaut Andrew Wright 《Infection and immunity》2002,70(2):771-778
The objective of this study was to determine (i) if complementation of ureB-negative Helicobacter pylori restores colonization and (ii) if urease is a useful reporter for promoter activity in vivo. Strains used were M6, M6DeltaureB, and 10 recombinant derivatives of M6 or M6DeltaureB in which urease expression was under the control of different H. pylori promoters. Mice were orally inoculated with either the wild type or one of the mutant strains, and colonization, in vivo urease activity, and extent of gastritis were determined. Of eight M6DeltaureB recombinants tested, four colonized mice. Of those, three had the highest in vitro urease activity of any of the recombinants, significantly different from that of the noncolonizing mutants. The fourth colonizing recombinant, with ureB under control of the cag-15 promoter, had in vitro urease activity which did not differ significantly from the noncolonizing strains. In vivo, urease activities of the four colonizing transformants and the wild-type control were indistinguishable. There were no differences in gastritis or epithelial lesions between mice infected with M6 and those infected with the transformants. These results demonstrate that recovery of urease activity can restore colonizing ability to urease-negative H. pylori. They also suggest that cag-15 is upregulated in vivo, as was previously suggested by demonstrating that it is upregulated upon contact with epithelial cells. Finally, our results suggest that total urease activity and colonization density do not contribute to gastritis due to H. pylori. 相似文献
68.
Lai M Wang F Rohan JG Maeno-Hikichi Y Chen Y Zhou Y Gao G Sather WA Zhang JF 《Nature neuroscience》2005,8(4):435-442
Voltage-gated Ca(2+) channels (VGCCs) are important in regulating a variety of cellular functions in neurons. It remains poorly understood how VGCCs with different functions are sorted within neurons. Here we show that the t-complex testis-expressed 1 (tctex1) protein, a light-chain subunit of the dynein motor complex, interacts directly and selectively with N- and P/Q-type Ca(2+) channels, but not L-type Ca(2+) channels. The interaction is insensitive to Ca(2+). Overexpression in hippocampal neurons of a channel fragment containing the binding domain for tctex1 significantly decreases the surface expression of endogenous N- and P/Q-type Ca(2+) channels but not L-type Ca(2+) channels, as determined by immunostaining. Furthermore, disruption of the tctex1-Ca(2+) channel interaction significantly reduces the Ca(2+) current density in hippocampal neurons. These results underscore the importance of the specific tctex1-channel interaction in determining sorting and trafficking of neuronal Ca(2+) channels with different functionalities. 相似文献
69.
Richard D Neal Victoria L Allgar Nasreen Ali Brenda Leese Phil Heywood Gill Proctor Joyce Evans 《The British journal of general practice》2007,57(536):212-219
BACKGROUND: Very few studies have reported cancer outcomes of patients referred through different routes, despite the prominence of current UK cancer urgent referral guidance. AIM: This study aimed to compare outcomes of cancer patients referred through the urgent referral guidance with those who were not, with respect to stage at diagnosis, survival, and delays in diagnosis. Design of study: Analysis of hospital records. SETTING: One hospital trust in England. METHOD: The records of 889 patients diagnosed in 2000-2001 with one of four types of cancer were analysed: 409 with lung cancer; 239 with colorectal cancer; 146 with prostate cancer; and 95 with ovarian cancer. Outcome measures were diagnostic stage, survival, referral and secondary care delays. RESULTS: For lung cancer, urgent referrals had more advanced TNM (tumor, node, metastasis) stage than patients diagnosed through other routes (P = 0.035) and poorer survival (P = 0.020). There was no difference in stage or survival for the other cancers. For each cancer, a higher proportion of urgent referrals was seen within 2 weeks. Secondary care delays for lung and colorectal cancer were shorter for inter-specialty referrals. CONCLUSION: For patients with lung cancer, the guidance appears to be prioritising those in the more advanced stages of disease. This was not the case for the other three cancers. Referral delays were shorter for patients urgently referred, as is the intention of the guidance. The avoidance of delays in outpatient diagnostics probably accounts for shorter secondary care delays for inter-specialty referrals. 相似文献
70.