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71.
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   
72.
73.
Dynamic elastic-plastic buckling phenomena in a rod due to axial impact   总被引:4,自引:0,他引:4  
Dynamic elastic-plastic buckling phenomena which might develop in a rod from an axial impact loading are studied in order to identify the conditions for quasi-static behaviour. A discrete model for dynamic elastic-plastic buckling, which retains the axial and the lateral inertia forces, is proposed, and the relationship between the model parameters and the characteristics of an actual structure is given. Examples of different external loadings and boundary conditions are considered in order to clarify the influence of elastic-plastic axial wave propagation on the buckling process. The critical time for the initiation of buckling is obtained and the post-buckling behaviour of the model is analysed. Particular attention is paid to the role of the striking mass on the characteristics of the buckling process and on the development of the buckling shape. The numerical study reveals that the inertia of the striking mass affects considerably the development of the buckling shape causing different patterns of axial strain distributions at the initiation of buckling. The comparisons which are made between the model predictions and some previously published experimental data show that the buckling process is governed by the impact velocity as well as by the external loading history provided by the experimental technique.  相似文献   
74.
It is important that new types of spirometer for widespread clinical use are pragmatically evaluated in primary care. This study compared measurements taken by a new portable Fleisch pneumotachograph spirometer (known as the Escort) with those of the commonly used mini-Wright peak flow meter and the Micromed Pocket turbine spirometer. A pragmatic study was conducted in two phases during routine surgeries at Aldermoor Health Centre, Southampton. Phase I compared the new spirometer with the mini-Wright peak flow meter and Phase 2 compared the new spirometer and the turbine spirometer. One hundred patients aged 5-88 years (56 patients with a history of chronic respiratory complaints and 44 patients without) entered Phase 1, and 100 patients aged 6-82 years (62 patients with a history of chronic respiratory complaints and 38 patients without) entered Phase 2. Each patient contributed only once to each phase, but some entered both phases on separate occasions. Ninety-five percent limits of agreement (mean +/- SD) were wide for all comparisons. Graphical plots revealed trends towards higher Escort values as mean values rose compared with both mini-Wright and turbine readings for peak expiratory flow rate and forced expiratory volume in one second. Possible over-reading of peak expiratory flow rate with the mini-Wright meter at low mean values was also seen. Readings taken with these different types of meter cannot be interchanged with confidence in clinical practice. The clinical significance of the theoretically more accurate measures of lung function produced with the new meter, and indeed of spirometry itself, needs further investigation.  相似文献   
75.
The effect of oxygen addition to microwave-sustained plasmas of hexamethyldisiloxane (HMDSO) has been investigated. Attention was directed to the solid products formed on aluminium substrates (plasma deposits). To enable a quantitative analysis of these, X-ray photoelectron spectroscopy (XPS) of standard silicon-containing materials was carried out. When suitable charge correction is applied to the XP spectra of HMDSO/O2 plasma deposits, a number of very clear trends emerge. From changes in elemental composition, core line binding energies (Si2p, C 1s, and O 1s) and widths, we show how oxygen addition to the plasma affects the chemical nature of the plasma deposit. The data reported also provide (some limited) information on the reactions taking place in the plasma.  相似文献   
76.
Substitutions (0–16 at%) of titanium for iron in Fe3Al-based alloys rapidly solidified by chill-block melt-spinning stabilize the D03 and B2 ordered structures. Rapid solidification results in total suppression of D03 order in binary alloys, whereas alloys containing titanium have D03 structure. D03 and B2 antiphase domain size, lattice parameter and hardness increase with increasing titanium content of the alloy. The deformation mode changes from single (unit) bcc dislocation in binary alloys to two-fold superdislocation configuration in D03Fe3Al-Ti alloys. Mechanical antiphase boundaries are generated by the movement of these imperfect configurations. All the alloys exhibited cleavage tensile failure. The mechanical properties are correlated with the observed structural changes.  相似文献   
77.
78.
The design and operation of multiple-quantum-well (MQW) wavelength-tunable distributed Bragg reflector (DBR) InGaAs QW lasers with nonabsorbing gratings and monolithically integrated external cavity electroabsorption modulators fabricated by selective-area MOCVD are presented. Uncoated devices exhibit CW threshold currents as low as 10.5 mA with slope efficiencies of 0.21 W/A from the laser facet. Wavelength tuning of 7 nm is obtained by injection current heating of the DBR section. These devices also exhibit extinction ratios of 18 dB from the modulator facet at a low modulator bias of 1 V, when measured with a broad-area detector. When coupled to a singlemode fiber, these devices exhibited high extinction ratios of 40 dB at a modulator bias of 1.25 V.  相似文献   
79.
The Ge-Si on Si epilayer system, besides being an interesting technological system in its own right, is a superb model for strained-layer studies. The point defect and symmetry defect structures associated with compound semiconductors can be avoided, allowing a focus on the mechanics of the system. Dislocation sources, glide behavior, and performance effects have been examined for strained-layer systems. Surprises have appeared along the way, but these materials are now becoming characterized well enough for industrial device applications.  相似文献   
80.
We present a characterization of some processes affecting the performance of solid state array cameras designed for ground based astronomical imaging in the 8–13μm atmospheric window. Our discussion includes a novel model for electron-hole generationrecombination noise based on the probable pathlength of an electron in a photoconductor. We use the Berkeley mid-IR Array Camera as an example. For this camera, the results show that the total optical system composed of the camera, a 3m telescope, and the atmosphere has an efficiency of about 3%, a 1σ noise equivalent flux density of 25 mJy min?1/2arcsec?2 measured over a Δλ/λ=10% band width, and a noise equivalent expressed as the ambient temperature thermal black body noise of 23%.  相似文献   
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