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91.
FJ O'Callaghan AC Clarke H Joffe B Keeton R Martin A Salmon RD Thomas JP Osborne 《Archives of disease in childhood》1998,78(2):159-162
This report highlights the association between tuberous sclerosis and Wolff-Parkinson-White syndrome. Ten patients with concurrent diagnoses of Wolff-Parkinson-White syndrome and tuberous sclerosis were identified. Wolff-Parkinson-White syndrome presented early in life, nine cases being diagnosed in the first year. Eight of the 10 cases were male. In eight cases, the syndrome was associated with supraventricular tachycardias, and in nine with cardiac rhabdomyomata. One child died from cardiac failure secondary to obstruction of the left ventricular outflow tract by a rhabdomyoma. Five of nine survivors showed resolution of Wolff-Parkinson-White syndrome on follow up. The accessory pathway was localised in nine patients from surface electrocardiograms: six children had left sided pathways and three had right sided pathways. 相似文献
92.
Comprehensive mutational scanning of the p53 coding region by two- dimensional gene scanning 总被引:2,自引:0,他引:2
A comprehensive mutational scanning test for the p53 coding region based on
multiplex PCR and two-dimensional DNA electrophoresis was designed and
evaluated. In a 2-step multiplex PCR, the p53 coding region (exons 2-11)
was amplified as a single 8646-bp fragment by long- distance PCR in step
one. This fragment served as a template for the subsequent co-amplification
of the individual exons in two multiplex groups in step two. The multiplex
products were then separated, first on the basis of size in non-denaturant
polyacrylamide gels and then on the basis of sequence by denaturing
gradient gel electrophoresis (DGGE). Primers for optimal PCR, melting
behavior and 2-D gel distribution were designed using a recently developed
computer program. The resulting two-dimensional gene scanning (TDGS) test
was evaluated by screening, in a blinded fashion, 29 coded DNA samples from
Li- Fraumeni syndrome patients with previously identified germline
mutations. All mutations were correctly detected. This assay provides an
accurate, cost-effective and non-radioactive method for simultaneous
mutational scanning of all p53 coding exons.
相似文献
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Allisha Weeden PhD RD Carol Ann Holcomb PhD Thomas J. Herald PhD Richard C. Baybutt PhD 《Journal of nutrition in gerontology and geriatrics》2013,32(2):241-254
Older adults frequently report use of vitamin and mineral (VM) supplements, although the impact of supplements on dietary adequacy remains largely unknown. The purpose of the current study was to evaluate micronutrient intakes of older adults with emphasis on identifying nutrients most improved by VM supplements, nutrients most likely to remain inadequate, and nutrients most likely consumed in excess. Community-based volunteers were recruited from senior centers and completed a questionnaire querying demographic data, current health status, and VM supplement use. Participants (n = 263) were then contacted by telephone to complete two 24-hour diet recalls and confirm VM supplement use. Dietary adequacy was determined by comparing the ratio of mean dietary intake to the Dietary Reference Intakes (DRI). Dietary consumption was lowest for vitamins D and E, calcium, and magnesium. VM supplementation most improved intakes of vitamins E, D, B6, folic acid, and calcium. Participants were most likely to exceed the Tolerable Upper Limit with supplementation of niacin, folic acid, and vitamin A. 相似文献
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U. TEDGÅRD 《Haemophilia》1998,4(4):365-369
Summary. Attitudes towards prenatal diagnosis, and abortion vary widely between different countries, religions, cultures and over time. Carrier testing and prenatal diagnosis (PD) of haemophilia have become an integrated part of the comprehensive care for haemophilia in Sweden as well as in many other countries. Almost all carriers are interested in carrier testing if they are aware of the possibility. With the development of PD by chorionic villus sampling in the first trimester, the method became acceptable for many carriers, and it has in Sweden actually had an effect on the incidence of haemophilia in the 1990s. The use of PD is more common among women who perceive haemophilia as a very serious disease and who have a positive attitude towards legal abortion. The main reason for carriers not to use PD was that they do not find haemophilia to be a sufficiently serious disorder to justify an abortion. Women and their spouses are under a great deal of psychological pressure in association with the PD procedure, and the psychological consequences of having to terminate a pregnancy are long-lasting. At follow-up, about 6 years after PD and abortion, these women, however, do not have more signs of psychological distress than women without PD experience. Nevertheless, they must be offered qualified assistance both before and after PD as well as adequate follow-up after an abortion to help them cope with the emotional strain they are under. 相似文献
99.