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Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA 总被引:2,自引:0,他引:2
Two families, one of Anglo-Saxon-Dutch descent, and the other, West Indian black, have an atypical beta thalassemia characterized by an unusually high level of Hb A2 in the heterozygous state. Restriction endonuclease mapping showed a deletion of about 1.35 kilobase (kb) in the 5' region of the beta globin gene. Direct sequencing of a specific region of genomic DNA amplified by a new modification of the polymerase chain reaction defined the deletion to be 1,393 base pairs (bp) and to be the same in both families. The deletion extends from 485 bp 5' to the mRNA CAP site to the middle of the second intervening sequence. This deletion, together with three others previously described that remove the 5' end of the beta gene but leave the delta gene intact, are all associated with unusually high levels of Hb A2 in the heterozygous state. 相似文献
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A seven-year-old white male presented with an enlarging mass in the mandible which was a cystic ameloblastic fibroma. This case, the third reported in the literature, demonstrated several unusual histopathologic findings and presented several controversies in management. 相似文献
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Evans JR Henning A Pradhan D Foster A Lagnado R Poulson A Johnson GJ Wormald RP 《Bulletin of the World Health Organization》2000,78(3):372-378
Most of the estimated 20 million people who are blind with cataracts live in rural areas of developing countries, where expert surgical resources are scarce. We have studied the use of multiflex open-loop anterior-chamber intraocular lenses (ACIOL) in high-volume low-cost surgery. Between 1992 and 1995, a total of 2000 people attending Lahan Eye Hospital, Nepal, with bilateral cataracts reducing vision to < or = 6/36 were randomly allocated to receive intracapsular extraction (ICCE) with aphakic spectacles, or ICCE with an ACIOL. We re-examined the cohort (1305/2000, 65%) between November 1996 and April 1997 and report the findings in this article. There were 13 new cases of poor visual outcome (best corrected vision < 6/60) arising after one year: 9 in the ACIOL group and 4 in the control group; odds ratio 2.1 (95% confidence interval, 0.59-9.55). The causes of poor outcome were as follows: ACIOL group--retinal detachment (4 cases), cystoid macular oedema (2), epiretinal membrane (1), age-related macular degeneration (1), and late endophthalmitis (1); control group--retinal detachment (2 cases), late endophthalmitis (1), and primary open-angle glaucoma with age-related macular degeneration (1). In rural areas of developing countries, well-manufactured multiflex open-loop ACIOLs can be implanted safely by experienced ophthalmologists after routine ICCE, avoiding the disadvantages of aphakic spectacle correction. 相似文献
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OBJECTIVE: Our purpose was to determine the long-term results after abdominal sacrocolpopexy. STUDY DESIGN: Computer-coded procedure logs identified women who had an abdominal sacrocolpopexy performed from 1985 to 1992. Subjects answered a validated, condition-specific symptom questionnaire, a sexual function questionnaire, and a demographic survey. Failures were defined by reoperation or symptoms. The data were analyzed with use of the Student t test and the Fisher exact test. RESULTS: At the time of surgery the subjects (n=38) had a mean age of 59.2 years (range 40-77 years), parity 4.03 (1-9), BMI 26.5 (18.6-40.2), and stage of prolapse 2.56 (0-4). The mean follow-up interval was 13.7 years (10-17 years). The total number of failures was 10 (26.3%), 4 (10.5%) because of reoperation and 6 (16%) because of symptoms. Symptom distress scores were low and similar between failures and successes. Twelve subjects were available for examination and most defects were noted in the anterior wall. CONCLUSION: This long-term outcome analysis of abdominal sacrocolpopexy found the procedure to be durable with a 74% success rate at a mean follow-up of 13.7 years. 相似文献
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Painful menses, one of the most frequent gynecologic complaints, is incapacitating for many women. It has recently been proposed that increased endometrial prostaglandin production and prostaglandin-induced myometrial contractility may be responsible for dysmenorrhea. In this prospective, double-blind, 3-way, crossover study, relief of pain by an antiprostaglanding drug, ibuprofen (400 mg), was compared with propoxyphene (64 mg) and placebo in 22 women with severe primary dysmenorrhea. Ibuprofen was significantly more effective in 18 patients when compared to the other 2 treatment regimens (P less than 0.001), while propoxyphene was superior to placebo in 13 patients (P less than 0.05). Prostaglandin E and F synthesis rates in endometrial biopsy specimens taken on the second day of treatment in 2 patients during each treatment cycle were lowest during ibuprofen in one case but showed no definite pattern in the second. 相似文献
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Ann K. Brown John L. Brown Claire L. Poulson 《Research in autism spectrum disorders》2008,2(2):199-208
Little empirical research has focused on teaching of imitation to learners with autism in ordinary environments. Typically-developing individuals imitate the behavior of others in ordinary social environments. One possible reason that learners with autism do not imitate in ordinary environments is they are not observing relevant discriminative stimuli that should set the occasion for imitative responding. This paper will review the operant research on generalized imitation with the goal of identifying procedures to teach learners with autism to imitate in ordinary environments. A stimulus-control account of imitation in ordinary environments is included with the goal of the development of effective teaching procedures. Imitation in ordinary environments is discussed in relation to the discriminative stimuli that occasion imitative responding. The use of differential observing responses to increase discrimination of relevant stimuli in ordinary environments is suggested as a possible strategy to increase imitation among individuals with autism in ordinary environments. 相似文献