In clinical research, questionnaires are an important tool available for population and large family studies to gather information on a patient’s medical history. In 1989, we described a large kindred of FrenchCanadian descent with an 8-fold increased risk of venous thrombosis due to the 3363C insertion in the protein C gene [1]. We developed a questionnaire for use in this family to assess gen...

A new score statistic is derived, which uses information from registries (age-specific incidences) and family studies (sib-sib marginal correlation) to weight affected sibling pairs according to their age at onset. Age at onset of sibling pairs is modelled by a gamma frailty model. From this model we derive a bivariate survival function, which depends on the marginal survival and on the margina...

We conducted a tuberculosis contact investigation for a female military recruit with an unreported history of multidrug-resistant tuberculosis (MDRTB) and subsequent recurrence. Pertinent issues included identification of likely contacts from separate training phases, uncertainty on latent MDRTB infection treatment regimens and side effects, and subsequent dispersal of the contacts after exposure.

In the present study, using anti-sense oligonucleotides the inhibition of expression of the PML protein hasbeen investigated. The anti-sense oligonucleotides were designed against the translation initiation site ofthe PML gene, and their effects were investigated on cellular growth and DNA synthesis. Incubation of normalhuman fibroblast cells with the anti-sense oligonucleotid...

The development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling's (1934) disease of phenylketonuria is not a single entity. In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by experience gained in the Phenylketonuria Clinic at the...

The authors administered inventories of vocational and recreational interests and talents to 924 pairs of twins who had been reared together and to 92 pairs separated in infancy and reared apart. Factor analysis of all 291 items yielded 39 identifiable factors and 11 superfactors. The data indicated that about 50% of interests variance (about two thirds of the stable variance) was associated wi...

Continuing uncertainty about the etiology of schizophrenia calls for periodic reappraisal of relevant data and conclusions, reappraisals guided by a beacon of modest doubt to avoid the distorted views of both the zealot and the skeptic. This review does not set out to cover every possible aspect of the genetics of schizophrenia. It deals with data from recent family, twin, and adoption studies ...

A substantial part of the contribution of genetic studies to the treatment of schizophrenia involves its emphasis on reliable and valid diagnoses. One consequence of this focus is the recognition that schizophrenic illness is broader than the diagnostic entity of schizophrenia itself, and instead consists of a "spectrum" of related disorders. Because some of the symptoms in these disorders diff...

In this paper register based family studies provide the motivation for linking a two-stage estimation procedure in copula models for multivariate failure time data with a composite likelihood approach. The asymptotic properties of the estimators in both parametric and semi-parametric models are derived, combining the approaches of Parner (2001) and Andersen (2003). The method is mainly studied ...

Telomere length (TL) is emerging as a biomarker for aging and survival. To evaluate factors influencing this trait, we measured TL in a large homogeneous population, estimated the heritability (h(2)), and tested for parental effects on TL variation. Our sample included 356 men and 551 women, aged 18-92 years, from large Amish families. Mean TL in leukocytes was measured by quantitative PCR (mea...