The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from

Is modelling dental caries a "normal" thing to do?

OBJECTIVE: To introduce and encourage the use of generalised linear models (GLMs) in analysing caries data that do not require the response to be treated necessarily as a sample from a normal distribution.<p></p> BASIC RESEARCH DESIGN: At the present time, it is most likely that the sampling distribution of dmf/DMF in industrialised countries will not approximate normality. Generalised linear modelling can be conducted assuming many underlying distributions which, in fact, includes the normal distribution. In this paper three GLMs are employed (normal, Poisson, negative binomial) for modelling an example caries data set. In addition, a binomial model is used to model the dichotomous outcome of caries-free/caries-present.<p></p> CLINICAL SETTING: The data comprised 871 Old Trafford, Manchester primary school children aged between 4 years 0 months and 5 years 11 months.<p></p> RESULTS: The effect of one study covariate was prominent in a normal model applied to all available dmf data but not in two non-normal models which used dmf > 0 data only. Furthermore, the same covariate was significant at the 5% level in a binomial model indicating that it influenced whether or not caries was present and not the level of dmf.<p></p> CONCLUSION: A suitable modelling approach for caries data is to employ a Poisson or a negative binomial model for the dmf/DMF response and a binomial model for the caries-free/caries-present outcome. This allows separate estimation of those factors which influence the magnitude of caries and those factors which influence whether caries is actually present or not.<p></p&gt