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Optimal Selection of Sib Pairs from Random Samples for Linkage Analysis of a QTL Using the EDAC Test
Percentages of extremely concordant and extremely discordant sib pairs are calculated that maximize the power to detect a quantitative trait locus (QTL) under a variety of circumstances using the EDAC test. We assume a large fixed number of randomly sampled sib pairs, such as one would hope to find in the large twin registries, and limited resources to genotype a certain number of selected sib pairs. Our aim is to investigate whether optimal selection can be achieved when prior knowledge concerning the QTL gene action, QTL allele frequency, QTL effect size, and background (residual) sib correlation is limited or absent. To this end we calculate the best selection percentages for a large number of models, which differ in QTL gene action allele frequency, background correlation, and QTL effect size. By averaging these percentages over gene action, over allele frequency, over gene action, and over allele frequencies, we arrive at general recommendations concerning selection percentages. The soundness of these recommendations is subsequently in a number of test cases. 相似文献
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Allan J. Flach Bernard J. Dolan 《Documenta ophthalmologica. Advances in ophthalmology》1993,83(4):323-329
Amiodarone hydrochloride is a potent antiarrhythmic agent recently approved for use by the Food and Drug Administration. Anterior subcapsular lens opacities were observed in seven of fourteen patients treated with moderate to high doses of amiodarone at the Veterans Administration Medical Center in San Francisco in 1982. The present report summarizes the present status of these same fourteen patients ten years later. Anterior subcapsular lens opacities developed or progressed in all patients continuing treatment with this antiarrhythmic agent during the following ten year interval. Although Snellen visual acuities are not decreased, subtle visual impairment is present as measured by contrast sensitivity measurements with and without glare. This decrease in visual acuity is not a contraindication for therapy with this potentially life saving drug. 相似文献
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J-H. Longeville P. De La M. Hall P. Dolan A. W. Holt P. E. Lillie J. A. R. Williams R. T. A. Padbury 《HPB surgery》1997,10(3):159-162
We describe a case of giant cavernous haemangioma of the liver with disseminated intravascular coagulopathy (Kasabach-Merritt syndrome) which was cured by orthotopic liver transplant.A 47 year old man presented with bleeding and tender massive hepatomegaly after tooth extraction. Investigations showed disseminated intravascular coagulopathy and a giant hepatic haemangioma involving both lobes of the liver. Initial treatment failed to resolve the coagulopathy and liver resection was attempted. At laparotomy the turnout was unresectable and the only option for cure was to offer a liver transplantation. The orthotopic liver transplant was performed 20 days after initial laparotomy. Subsequently, all coagulation parameters returned to normal and the patient remains well after 12 months. Orthotopic liver transplant can be considered for giant hepatic haemangioma with Kasabach-Merritt syndrome when resection is necessary and a partial hepatectomy is not technically feasible. 相似文献
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Michael Leonard Uthman Alao Aaron Glynn Mark Dolan 《European journal of orthopaedic surgery & traumatology : orthopedie traumatologie》2009,19(8):553-558
Between 1999 and 2005, we treated 41 patients with a total hip arthroplasty for failed fixation of a hip fracture. This study
had three purposes: (1) to determine the reason/s for fixation failure (2) to record difficulties/complications encountered
in converting to a salvage arthroplasty and (3) to compare the outcome of these patients (Group 1) with a matched group of
patients who underwent a primary hip arthroplasty (Group 2). Failure to achieve a good reduction and optimal screw placement
was evident in 80% of cases of failed fixation. A high incidence of complications was recorded in the perioperative period
during conversion to a salvage arthroplasty. Functional outcome was statistically inferior in Group1; this group also had
a higher incidence of complications. Radiographs at 2 years postoperatively showed evidence of femoral stem loosening in 16%
of the salvage group compared with 3% in the primary hip arthroplasty group. 相似文献