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1.
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Coronary artery bypass grafts: visualization with MR imaging 总被引:1,自引:0,他引:1
3.
Proposed Report on the Educational Qualifications of Sanitarians. Committe on Professional Education
4.
Congenital cardiac malformations in Adams-Oliver syndrome 总被引:1,自引:0,他引:1
Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome. 相似文献
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Sandra Lobo Jaroslav Cervenka Arnold London Mary Ella M. Pierpont 《American journal of medical genetics. Part A》1992,43(4):701-703
We report on a patient with interstitial deletion of 10q and compare her to 8 previously described patients, 2 of whom have chromosomal breakpoints similar to our patient. Minor anomalies including broad forehead, hypertelorism, strabismus, prominent philtrum, and “dysplastic” pinnae are present in our patient. Psychomotor retardation and hypotonia are universal findings in 10q interstitial deletion. Growth retardation, not present in our patient, is seen in some. These clinical findings are sufficiently distinct to suggest early chromosome studies. © 1992 Wiley-Liss, Inc. 相似文献
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Jonathan C. Craig Les M. Irwig James Christie Albert Lam Ella Onikul John F. Knight Premala Sureshkumar L. Paul Roy 《Pediatric nephrology (Berlin, Germany)》1997,11(4):455-459
Variability in the interpretation of micturating cystourethrography by paediatric radiologists for the diagnosis of vesicoureteric
reflux in children was evaluated. All 265 micturating cystourethrograms (MCUs) that were available from 304 consecutive children
aged 0.5 – 61 months – who were investigated after their first urine infection between 1993 and 1995 as part of a prospective
cohort study – were selected for interpretation. Three experienced paediatric radiologists from the same department independently
interpreted the MCUs according to the grading system of the International Reflux Study in Children, from grades 0 to V, with
the presence of intrarenal reflux also noted. Apart from being informed that urine infection was the indication for the MCU,
no other clinical information was given to the radiologists. The indices of variability used were the percentage of agreement
and the kappa statistic, expressed as a percentage. Both measures were weighted with integers representing the number of categories
from perfect agreement. Disagreement was analysed for children and kidneys. For the diagnosis of vesicoureteric reflux in
individual patients, including grade, the percentage of agreement was 96% – 97% (kappa 90% – 91%) and the weighted percentage
of agreement was 96% – 98% (weighted kappa 93% – 94%). The same high level of agreement was present for individual kidneys,
with a percentage of agreement of 97% – 98% (kappa 89% – 92%) and a weighted percentage of agreement of 98% – 99% (kappa 94% – 95%).
There was near perfect agreement in the interpretation of radiological micturating cystourethrography among three experienced
paediatric radiologists for the diagnosis and grade of vesicoureteric reflux. Any variations in the medical care of children
suspected of having vesicoureteric reflux are not explained by differences in the reporting of this diagnostic test.
Received June 19, 1996; received in revised form November 1, 1996; accepted December 6, 1996 相似文献