PubMed · 11331232
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M Vingron. 2001. Bioinformatics needs to adopt statistical thinking.. https://doi.org/10.1093/bioinformatics%2F17.5.389
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Colobomatous macrophthalmia with microcornea syndrome (MIM 602499) is a very rare eye malformation. To date, only two families with a total number of eight patients have been reported. We report on 13 additional cases in a single three-generation family and describe the eye findings and quantitative parameters of corneal curvature and axial ocular dimensions. All affected relatives had bilateral involvement with typical inferonasal iris coloboma, chorioretinal coloboma, microcornea, and varying degrees of axial enlargement associated with myopia. Additional findings included flatter corneal curvatures and shallower anterior chambers. Iridocorneal angle abnormalities associated with elevation of intraocular pressure were detected in three patients. The pedigree confirms the autosomal dominant pattern of inheritance with complete penetrance.
Information on the distribution of lag duration between exposure or intervention and the subsequent changes in risk can help in assessing the impact of exposure, predicting cost-effectiveness of intervention, and understanding the underlying biological mechanisms. Previous approaches focused more on optimizing the strength of the exposure-disease association than on directly estimating lag duration. We propose an alternative approach applicable to the analysis of the lagged effects of binary exposure variables. The density function of the distribution of lags is estimated based on flexible modelling of changes in hazard ratio of exposed versus unexposed subjects. The methodology is evaluated in a simulation study and is applied to the Framingham data to investigate the lagged effect of smoking cessation on coronary heart disease risk.
Intensity-modulated (IM) beam profiles computed by inverse-planning systems tend to be complex and may have multiple spatial minima and maxima. In addition to the structure originating from the treatment objectives, beam profiles might contain stochastic structure or noise and numerical artefacts, which present certain practical difficulties. The combinational use of conformal and intensity-modulated beams could be a different method of making the total fluence distribution less noisy and deliverable without compromising the advantages of IMRT. The investigation of this possibility provided the basis for this paper. A treatment-planning study was performed to compare plans combining modulated and unmodulated beams with a 5-field, equally spaced, full IMRT plan for treating the prostate and seminal vesicles in three patients. Beam angles for this study were 0 degrees, 72 degrees, 144 degrees, 216 degrees and 288 degrees. Additionally, a study was performed on a patient with a different beam arrangement (36 degrees, 108 degrees, 180 degrees, 252 degrees, 324 degrees) from the first study to test the obtained results. This study has demonstrated that it is possible to substitute up to two conformal beams in the originally full IMRT plan when carefully selecting the conformal beam angles. Making the anterior beam (0 degrees) and an anterior oblique beam (between 0 degrees and 90 degrees) conformal leads to a reduction in the total number of monitor units and segments of about 15% and 39%, respectively. Additionally, these two open fields can be used for simpler treatment verification.