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KV Shah TD Kessis F Shah JW Gupta D Shibata RW Jones 《Canadian Metallurgical Quarterly》1996,15(2):127-130
Unstable expansion of the CTG repeats in the 3' untranslated region encoding a member of the protein kinase family in the q13.3 band on chromosome 19 is a mutation specific for myotonic dystrophy. To examine the correlation between clinical expression and CTG trinucleotide repeat length, we carried out Southern blot analysis in a family with myotonic dystrophy. In this pedigree, the expanded CTG repeats were transmitted maternally. The mother had three female children. The mother had about 200 CTG repeats, and the number of repeats for each child was about 800, 1500 and 1600 in birth order. The mother and the patient with 800 repeats were unaware of muscle weakness or myotonia. Symptoms were present from age 3 years in the patient with 1500 repeats and from birth in the one with 1600 repeats. Although the mother menstruated regularly, the patients with 800 and 1500 repeats both menstruated irregularly, and the one with 1600 repeats has never menstruated. The age of onset and severity of the disease were correlated with the size of the expanded repeats. Endocrinological studies revealed that the basal levels of the gonadotropins, PRL and E2 were within normal range, and a pituitary response to LHRH was observed. These data suggest that the amenorrhea and menstrual irregularities were caused by a suprahypophyseal dysfunction. When expanded CTG repeats are transmitted maternally, abnormal products resulting from the metabolic disturbance in the affected mother may harm the fetus in utero. A heterozygous fetus, who has more CTG repeats, may be unable to metabolize the pathologic products sufficiently and therefore may become more severely affected. This may explain the exclusive maternal transmission of congenital myotonic dystrophy. 相似文献
13.
Due to technology scaling and increasing clock frequency, problems due to noise effects lead to an increase in design/debugging efforts and a decrease in circuit performance. This paper addresses the problem of efficiently and accurately generating two-vector tests for crosstalk induced effects, such as pulses, signal speedup and slowdown, in digital combinational circuits. These noise effects can propagate through a circuit and create a logic error in a latch or at a primary output. We have developed a mixed-signal test generator, called XGEN, that incorporates classical static values as well as dynamic signals such as transitions and pulses, and timing information such as signal arrival times, rise/fall times, and gate delay. In this paper we first discuss the general framework of the test generation algorithm followed by computational results. Comparison of results with SPICE simulations confirms the accuracy of this approach. 相似文献
14.
In the present article the characterstics of a finite range failure time distribution, that includes the rectangular distribution as a particular case, are studied. When shape parameter surpass unity then the distribution is IFR otherwise it always remains IFRA. A graphic shape of the distribution is also formed for certain admissible values of the constants. 相似文献
15.
Gamma distributions are some of the most popular models for hydrological processes. In this paper, a very flexible family which contains the gamma distribution as a particular case is introduced. Evidence of flexibility is shown by examining the shape of its probability density function (pdf). A treatment of the mathematical properties is provided by deriving expressions for the n th moment. Estimation and simulation issues are also considered. Finally, a detailed application to drought data from the State of Nebraska is illustrated. 相似文献
16.
Topology optimization of interconnection networks 总被引:2,自引:0,他引:2
This paper describes an automatic optimization tool that searches a family of network topologies to select the topology that best achieves a specified set of design goals while satisfying specified packaging constraints. Our tool uses a model of signaling technology that relates bandwidth, cost and distance of links. This model captures the distance-dependent bandwidth of modern high-speed electrical links and the cost differential between electrical and optical links. Using our optimization tool, we explore the design space of hybrid Clos-torus (C-T) networks. For a representative set of packaging constraints we determine the optimal hybrid C-T topology to minimize cost and the optimal C-T topology to minimize latency for various packet lengths. We then use the tool to measure the sensitivity of the optimal topology to several important packaging constraints such as pin count and critical distance. 相似文献
17.
18.
A Saleem N Ibrahim M Patel XG Li E Gupta J Mendoza P Pantazis EH Rubin 《Canadian Metallurgical Quarterly》1997,57(22):5100-5106
Camptothecins are a new class of anticancer drugs that target DNA topoisomerase I; current efforts are directed toward elucidating optimal combinations of these drugs with other antineoplastic agents. A rationale for the use of sequential therapy involving the combination of camptothecins with topoisomerase II-targeting drugs, such as etoposide, has arisen from observations of increased topoisomerase II protein levels in cell lines resistant to camptothecin. In an effort to understand potential mechanisms of resistance to this strategy, we developed a U-937 cell subline, denoted RERC, that is capable of surviving exposure to sequential topoisomerase poisoning. The RERC cells are 200-fold resistant to camptothecin, 8-fold resistant to etoposide, and 10-fold hypersensitive to cisplatin compared to the parental U-937 cells. Biochemical analyses indicate that the resistant phenotype involves alterations in both topoisomerase I and topoisomerase IIalpha. Topoisomerase I catalytic activity in the resistant cells is similar to that of the parental line but is resistant to camptothecin. Moreover, the resistant cells express a single mRNA species of topoisomerase I that codes for a mutation in codon 533. In addition, topoisomerase IIalpha protein levels are decreased 10-fold in the resistant line, coincident with a two-fold decrease in the expression of topoisomerase IIalpha mRNA. Collectively, these results indicate that resistance to sequential topoisomerase poisoning may involve a reduction in total cellular topoisomerase activity. 相似文献
19.
In this paper, electromagnetically coupled (EMC) patch-antenna configurations on two-layered dielectric substrates are investigated. The radiating patch is located on the top of the upper substrate and is excited by feed circuitry underneath it on the lower substrate. The electromagnetic field problem is transformed into a network problem and a multiport network model (MNM) is developed to characterize the three-dimensional (3-D) fields associated with the radiating structure. Antenna characteristics such as input impedance and radiation pattern are computed using the MNM model and the approach is validated by comparison with experimental results 相似文献
20.
We recently diagnosed subcutaneous fat necrosis in a newborn female infant using fine needle aspiration cytology. The neonate had perinatal asphyxia and her mother a difficult labor, but otherwise the neonate was well developed and healthy and within a few days developed well-defined areas of subcutaneous induration all over. On cytologic examination of the aspirated material, many necrotizing fat cells were found with refractile, needle-shaped crystals arranged in a sheaflike or starburst pattern. Subcutaneous fat necrosis of the newborn is uncommon today, and although the histologic findings from excised tissue are known, this appears to be the first case in which the diagnosis was possible from a sample of fine needle aspirate. 相似文献