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81.
Relapsing polychondritis studied by computed tomography 总被引:1,自引:0,他引:1
Computed tomographic findings in a patient with relapsing polychondritis are described. Collapse of the cartilage of the nose and calcification in cartilages of the ears were clearly demonstrated. CT scanning was also helpful in evaluating the tracheobronchial tree for airway compromise, which could prove fatal in this condition. 相似文献
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Logan PM 《Irish journal of medical science》2004,173(1):7-8
Background Lung cancer is the most common cause of cancer-related death in Ireland. There are few complete data sets available as to
the stage and cell type of lung cancers at time of presentation in Ireland.
Aim To audit the lung cancers presenting to a large Dublin teaching hospital over a 12-month period.
Method Prospective evaluation of all lung tumours presenting to our institution over a consecutive 12-month period.
Results One hundred and ninety-eight lung cancers presented over the study period. There were 34 cases of small cell carcinoma and
150 cases of non-small cell carcinoma (NSCC). Fourteen patients were too ill or compromised at time of presentation for tissue
confirmation. The most common cell type was squamous carcinoma. Eighty-four per cent of the NSCCs were either stage 3 or 4
at presentation.
Conclusion Most lung cancers present late in the time course of the disease. Distribution of cell type and location are similar in Ireland
and other developed countries. 相似文献
85.
Mutational analysis of 206 families with cavernous malformations 总被引:4,自引:0,他引:4
Laurans MS DiLuna ML Shin D Niazi F Voorhees JR Nelson-Williams C Johnson EW Siegel AM Steinberg GK Berg MJ Scott RM Tedeschi G Enevoldson TP Anson J Rouleau GA Ogilvy C Awad IA Lifton RP Gunel M 《Journal of neurosurgery》2003,99(1):38-43
OBJECT: A gene contributing to the autosomal-dominant cerebral cavernous malformation (CCM) phenotype, KRIT1 (an acronym for Krev Interaction Trapped 1), has been identified through linkage analysis and mutation screening. The authors collected blood samples from 68 patients with familial CCM and 138 patients with apparently sporadic CCM as well as from their families, in an effort to characterize the prevalence and spectrum of disease-causing sequence variants in the KRIT1 gene. METHODS: The authors used single-strand conformational polymorphism analysis to identify genomic variants in KRIT1, which were sequenced to determine the specific mutation. Among 43 Hispanic-American kindreds who immigrated to the southwestern US from northern Mexico, 31 share an identical founder mutation. This Q455X mutation is found in 18 (86%) of 21 persons with a positive family history and in 13 (59%) of 22 persons with apparently sporadic CCM. This mutation was not found among 13 persons with CCM who were recruited from Mexico. These findings establish the key role of a recent founder mutation in Hispanic persons with CCM who live in the US. Although nearly all Hispanic families in the US in which there are multiple CCM cases linked to the CCM1 locus, only 13 of 25 non-Hispanic CCM-carrying families have displayed evidence of linkage to the CCM1 locus. Among these 13 families, the authors identified eight independent mutations in nine kindreds. They identified four additional mutations among 22 familial CCM kindreds with no linkage information, bringing the total number of independent mutations to 12. Inherited KRIT1 mutations were not detected among 103 non-Hispanic persons in whom a family history of CCM was rigorously excluded. CONCLUSIONS: All mutations were nonsense mutations, frame-shift mutations predicting premature termination, or splice-site mutations located throughout the KRIT1 gene, suggesting that these are genetic loss-of-function mutations. These genetic findings, in conjunction with the clinical phenotype, are consistent with a two-hit model for the occurrence of CCM. 相似文献
86.
Voorhees SS Sakai R Araki S Sato H Otsu A 《Environmental health and preventive medicine》2001,6(2):63-73
The most common method of evaluating beneficial impacts of environmental policies is cost-benefit analysis (CBA). In the present
review, CBA methods for air pollution impacts are reviewed. Three types of air pollution effects are identified, including
health, productivity, and amenity. Market valuation, stated preference methods, and revealed preference methods are identified
for valuing benefits. Three types of costs are deseribed, including private sector costs, societal costs, and governmental
regulatory costs. A benefits valuation approach based on Freeman's principals is described. A costs valuation approach based
on U.S. Environmental Protection Agency and Dixon et al. principals is deseribed. Limitations associated with estimates of
benefits and costs are summarized. Input assumptions and results are compared for several existing air pollution control analyses.
The importance of CBA in environmental policy studies is discussed. Our conceptual approaches should be useful in analyses
of urban air pollution impacts and air pollution prevention policies. 相似文献
87.
Ultraviolet irradiation activates PI 3-kinase/AKT survival pathway via EGF receptors in human skin in vivo 总被引:7,自引:0,他引:7
Growth factors interact with their cell surface receptors and activate the enzyme PI 3-kinase (PI 3-K) resulting in the formation of 3-phosphorylated phosphatidylinositols, which in turn activate the serine/threonine kinase AKT/PKB. AKT functions, in part, to promote cell survival by phosphorylating the BCL-2 family member BAD and the cell death pathway enzyme, caspase-9. Although induction of apoptosis by ultraviolet (UV) irradiation is well documented, little is known about UV activation of cell survival pathways in human skin cells. We have investigated whether UV activates the PI 3-K/AKT pathway in human skin in vivo. UV irradiation (2MED from UVB source) stimulated PI 3-kinase activity within 15 min. PI 3-K activity was maximal (2.5-fold, n=6) 30 min post UV and remained elevated for 4 h. UV stimulated AKT activity within 30 min. Maximal activity (4-fold, n=11) was observed 1 h post UV. UV also stimulated phosphorylation of the downstream AKT effectors, S6 kinase and BAD. S6 kinase was maximally stimulated 4 h post UV (15-fold, n=6). Increased BAD phosphorylation was observed 1 h post UV and remained elevated for 4 h. Western blot analysis revealed that UV-induced phosphorylation of BAD at Ser112, a site known to be phosphorylated by AKT. Inhibitors of EGFR and PI 3-kinase blocked UV-induced phosphorylation of BAD, suggesting that EGFR mediates UV-activated cell survival pathway. Collectively, both positive and negative roles for UV activation of the PI 3-K/AKT pathway in human skin can be envisioned. The PI 3-K/AKT pathway likely plays a critical role in balancing UV-induced apoptotic signals, thereby preventing widespread skin cell death. Conversely UV activation of the PI 3-K/AKT pathway may enhance survival of mutated cells, thereby promoting skin cancer, as has been found in several other types of cancer. 相似文献
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The ability to generate stable high-titer vectors that give rise to high levels of expression of transduced globin genes in erythroid cells is a prerequisite for effective retroviral-mediated globin gene therapy. The human beta-globin gene with its immediate flanking sequences does not contain all the regulatory elements necessary for regulated high-level and position-independent expression in erythroid cells. The regulatory element known as the beta-globin locus control region (BetaLCR) can provide a linked Beta-globin gene with these properties. However, addition of BetaLCR sequences to a retrovirus carrying a beta-globin gene increases its genetic instability. We have developed a new generation of retroviral vectors in which a human gamma- globin gene is placed under the control of the alphaLCR, the major regulatory element of the alpha-globin gene cluster. We demonstrate that these retroviruses are genetically stable in producer cell lines and can be produced at high titers that exceed 5 x 10(6) colony-forming units (CFU)/mL. In addition, we show that the transduced gamma-globin gene can be expressed in the adult erythroid environment of mouse erythroleukemia (MEL) cells at a level comparable to that of a single endogenous Betamaj-globin gene. These retroviruses can also transduce primary murine bone marrow progenitor cells as efficiently as retroviruses that carry the neomycin resistance (neor) gene. This new generation of globin retroviral vectors may prove useful for gene therapy of human beta-globin gene disorders such as sickle cell disease and beta-thalassemia. 相似文献
90.