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961.
962.
963.
J Tyson L Tranebjaerg S Bellman C Wren JF Taylor J Bathen B Aslaksen SJ S?rland O Lund S Malcolm M Pembrey S Bhattacharya M Bitner-Glindzicz 《Canadian Metallurgical Quarterly》1997,6(12):2179-2185
The Jervell and Lange-Nielsen syndrome (JLNS) comprises profound congenital sensorineural deafness associated with syncopal episodes. These are caused by ventricular arrhythmias secondary to abnormal repolarisation, manifested by a prolonged QT interval on the electrocardiogram. Recently, in families with JLNS, Neyroud et al. reported homozygosity for a single mutation in KVLQT1 , a gene which has previously been shown to be mutated in families with dominantly inherited isolated long QT syndrome [Neyroud et al . (1997) Nature Genet ., 15, 186-189]. We have analysed a group of families with JLNS and shown that the majority are consistent with mutation at this locus: five families of differing ethnic backgrounds were homozygous by descent for markers close to the KVLQT1 gene and a further three families from the same geographical region were shown to be homozygous for a common haplotype and to have the same homozygous mutation of the KVLQT1 gene. However, analysis of a single small consanguineous family excluded linkage to the KVLQT1 gene, establishing genetic heterogeneity in JLNS. The affected children in this family were homozygous by descent for markers on chromosome 21, in a region containing the gene IsK . This codes for a transmembrane protein known to associate with KVLQT1 to form the slow component of the delayed rectifier potassium channel. Sequencing of the affected boys showed a homozygous mutation, demonstrating that mutation in the IsK gene may be a rare cause of JLNS and that an indistinguishable phenotype can arise from mutations in either of the two interacting molecules. 相似文献
964.
A robust CMOS compander circuit meeting all of the requirements for analog cellular telephony and using an improved sigma-delta compander topology is presented. Rather than digitizing and reconstructing the input signal using a sigma-delta modulator as has been done previously, only the amplitude path is digitized while the voice path remains analog. The amplitude information is obtained digitally, and is reduced to a single bit using a first-order sigma-delta modulator. Performing this function digitally eliminates problems due to analog offsets and in implementing the long time constant required. The output signal is formed by gating the analog input signal under control of the amplitude signal. The expander and compressor circuits each consist of a single op amp and 2000 gates of digital logic, and have been implemented on 0.8-μm CMOS processes. The ADC for the amplitude path uses a compact switched-capacitor second-order sigma-delta modulator implemented using a single amplifier. No external components are required. Tracking error for the compressor was measured to be less than 0.3 dB over a 60-dB input range when operating on a 3.0-V supply. The test time, when compared to conventional compander implementations, is considerably reduced 相似文献
965.
S Mattila L Heikkil? J Sipponen K Verkkala K Ky?sola T Mattila A J?rvinen R Luosto L Heikkinen P Ketonen J Salo A Nemlander I Mattila MS Nieminen 《Canadian Metallurgical Quarterly》1997,86(2):113-120
BACKGROUND: Clearance of large molecules from the interstitial space is an important function of lymphatics and is affected by local pathologic changes. OBJECTIVE: To determine if the clearance rate of interstitially injected albumin is correlated to tumour characteristics and outcome in women with invasive breast cancer. METHOD: In a consecutive series of women coming to biopsy for suspected breast cancer, technetium-tagged albumin was injected into the tissue adjacent to the palpable mass. The isotope disappearance rate was measured over two hours. Also assessed were the maximum vessel density (MVD-using Factor VIII polyclonal antisera), the proliferation rate (using Ki-67 antisera), node status, tumour size, histologic and nuclear grade, mitotic rate, and p53 and c-erbB-2 oncoproteins. All patients were followed until relapse and for a minimum of 10 years. RESULTS: In multivariate analysis, an association between relapse-free survival and isotope clearance rate was suggested (p = 0.024). The best outcome was seen in patients with the least isotope clearance. Node status, size, histologic and nuclear grade, and mitotic rate correlated with survival. MVD did not correlate with survival and was inversely related to the isotope clearance rate. Tumour proliferation rate, and the c-erbB-2 and p53 oncoproteins did not relate to outcome. CONCLUSION: The role of lymphatics in breast cancer is difficult to study. Measurement of interstitial clearance may be a useful technique and could be a prognostic factor. 相似文献
966.
J Antosiewicz E Damiani W Jassem M Wozniak M Orena L Greci 《Canadian Metallurgical Quarterly》1997,22(1-2):249-255
An in vitro study was carried out to verify whether the chain length of a substituent on an indolinic nitroxide could influence its antioxidant activity in different biological environments subjected to oxidative stress. Three distinct indolinic nitroxides were synthesized and compared with vitamin E and Trolox (a hydrophilic analogue of vitamin E), where the only difference between the nitroxides was the length of the hydrocarbon chain in the 2-position of indole, namely 2 (C2), 10 (C10), and 18 (C18) carbons. All the nitroxides were effective in preventing oxidation of bovine serum albumin, but to different extents, with the longer chain derivatives being more efficient. However, the C2 compound was the most efficient in preventing lipid peroxidation in microsomal membranes. The C2 and C18 compounds, Trolox, and vitamin E protected microsomal protein oxidation to the same extent at the highest concentration used (13 microM). The nitroxide with a C10 chain was less effective in this system. The influence of these compounds on the enzymatic activity of two mitochondrial proteins subjected to oxidative stress was also studied by means of oxygraph measurements. Mitochondrial rotenone-sensitive NADH oxidase and succinate oxidase responded differently to BuOOH-induced radical chemistry, and the compounds under study also protected the activity of the two enzymes but to different extents. The results clearly demonstrate that indolinic nitroxides are very efficient antioxidants, protecting both lipids and proteins from peroxidation. The indole structure influences the antioxidant efficacy in biological systems. 相似文献
967.
M/G/1 type queueing systems are frequently found in the performance evaluation of communication systems. The authors develop a new solution method for these queues: their results are an alternative to both standard forms of exact analysis, and to diffusion approximations, while offering comparable computational complexity to the latter 相似文献
968.
Optical and electron microscopy have been used to study the complex microstructures developed during the isothermal decomposition of austenite above 550°C in Fe-4Mo-0.2C and Fe-10Cr-0.4C alloy steels. As the transformation temperature is decreased, the decomposition products change from the disordered growth of nodular alloy pearlites to blocky ferrite structures containing fine dispersions of alloy carbide, and finally to acicular ferrite structures also containing alloy carbide. The branched M6C and M23C6 of the high-temperature pearlite is replaced by Mo2C and M7C3 with a fibrous or lath morphology in the lower temperature structures. The decomposition microstructures are explained in terms of a model which takes account of the growth of particular alloy carbides at the interfaces of ferrite allotriomorphs, where the growth mechanism, and hence the morphology, is sensitive to transformation temperature. 相似文献
969.
970.
In 1989, 125 African-American and 123 European-American girls aged 12-14 years were enrolled in a 2-year study in which they maintained a menstrual calendar, recording the date and amount of menstrual bleeding. Weight, exercise, and stress during the previous week were recorded at the start of each menstrual cycle. Although only minor ethnic differences were observed in expected cycle length (29.3 vs. 28.8 days for European-American and African-American girls, respectively), more prominent differences were observed in the between-subjects standard deviation of cycle length (2.9 vs. 2.2 days, respectively) and in the odds of having a cycle longer than 45 days (odds ratio=1.86, 95% confidence interval 1.17-2.97) for European-American compared with African-American girls. Low weight for height and high levels of exercise increased the probability of having a cycle longer than 45 days and decreased expected cycle length of 13- to 45-day cycles. Additional investigation of potential ethnic differences in menstrual cycle characteristics is warranted. 相似文献