The probability that similar haplotypes are identical by descent

The logic of gene mapping in highly penetrant diseases is to find the minimal overlap of haplotypes that are identical by descent (IBD). If the pedigree is unknown, identity by descent of haplotype overlap cannot be established with certainty. In many cases, it is intuitively clear that similar haplotypes are indeed IBD. The logical and statistical evaluation of haplotype overlap requires that probabilities of IBD are substantial. It is, therefore, important to estimate these probabilities. In this paper, we derive a recursive formula for the probability of IBD. Simulations are used to validate the expected values and to study the variability around the expected value. We demonstrate that for populations 1000 generations of age – without bottlenecks – haplotypes of 1 cM consisting of at least five microsatellite markers have a significant probability to be IBD. Likewise, SNP haplotypes of 1 cM should consist of at least nine identical SNP alleles for a similar probability of IBD. Without considering bottlenecks, haplotypes consisting of as few as three SNPs spanning a region of less than 0.01 cM are likely IBD in populations that are 10000 generations of age.     

贯叶金丝桃愈伤组织的诱导及其有效成分的定性

目的 :诱导出贯叶金丝桃的愈伤组织 ,并确定其中含有金丝桃素。方法 :在不同条件下采用组织培养技术 ,进行贯叶金丝桃的愈伤组织诱导研究 ,用HPLC方法确定其中含有的金丝桃素。结果和结论 :最佳诱导条件是MS基本培养基加入生长调节物质 2 ,4 D(4μg·L- 1 )和 6 BA(0 .2 μg·L- 1 )。叶腋等分生组织较多的部位易于诱导愈伤组织。诱导出的愈伤组织 ,经HPLC方法确定其含金丝桃素     

March Madness 2011: For Whom the Bell Tolls?

The American Heart Association has developed 12 recommendations for preparticipation screening of high school and college athletes, but the application of these recommendations across the US is inconsistent. A recent clinical study suggests that the incidence and prevalence of sudden athletic death (SAD) is greater than previously believed. Currently, diagnostic screening is considered too expensive and is delivered sporadically. Logic dictates that the medical community must become more involved in reducing the incidence and prevalence of SAD through an improved preparticipation screening process. An effective screening process must be able to reproducibly predict and prevent potential risk using the most effective resources and keeping the cost-benefit ratio at a minimum. The most effective use of our resources will limit the potential of liability for institutions and physicians and, hopefully, eliminate episodes of SAD.     

Management of oral complications of disease-modifying drugs in rheumatoid arthritis

Stomatitis is a troublesome adverse effect of disease-modifying anti- rheumatic drug (DMARD) therapy in rheumatoid arthritis (RA) patients. This review presents data to examine the incidence, clinical features and consequences of DMARD-related stomatitis, and suggests an algorithm for its clinical management. The specific objectives of the two studies presented here were to determine the incidence of DMARD-related stomatitis and its effect on DMARD continuation, and secondly to identify the clinical and laboratory risk factors. We investigated two cohorts of patients: (i) a retrospective survey of data collected from drug monitoring clinics run for patients on DMARDs from 1987 to 1994 involving 1539 patients and 2394 drug exposures; (ii) a prospective study of 25 consecutive RA patients presenting with DMARD-related stomatitis compared to 29 RA controls with no history of DMARD stomatitis. The retrospective survey showed that 2% of DMARD patients stopped therapy because of stomatitis, but 55% of these were able to resume the same therapy. In the case control study. 24% of patients discontinued temporarily and 8% permanently. Cases of DMARD-related stomatitis differed from controls in that they had a higher incidence of previous mouth ulcers (40% vs 14%), they smoked less (8% vs 31%) and Schirmer's test was more often abnormal (44% vs 21%). There were no differences in RA severity, disease activity or oral hygiene. Haematinic deficiencies were equally common in cases and controls: 30% for iron, 8% for vitamin B12 and 24% for folic acid. Herpes simplex virus was involved in a minority (8%) of cases. In conclusion, the occurrence of stomatitis in RA patients on DMARD should not lead to cessation of drug therapy, but to a careful evaluation so that patients may be maintained on effective treatment.