Plasma 25-hydroxycholecalciferol (25-H.C.C.) has been measured in 67 consective cases of fracture of the proximal femur. The values found in these patients were not different from values found in these patients were not different from those in control groups at the same time of the year. Plasma 25-H.C.C. was not correlated to plasma calcium or phosphorus, the Ca times P product, or the alkaline phosphatase. X-rays showed Looser zones in only 1 patient, in whom the lowest plasma 25-H.C.C. was found. Osteomalacia is not uncommon among elderly people in Denmark, but it is more likely to depend on a decline in the renal efficiency to convert 25-H.C.C. to 1,25-dihydroxycholecalciferol than a low dietary intake of vitamin D.
In the Copenhagen Male Study we found an increased risk of ischaemic heart disease (IHD) in men with the Lewis phenotype Le(a-b-). This study investigated whether, within the group of Le(a-b-) men, any conventional risk factors modified their increased risk. Three thousand, three hundred and eighty-three men aged 53 to 75 years were examined in 1985/86 and their morbidity and mortality over the next four years recorded. Three hundred and forty-three men with cardiovascular diseases were excluded at baseline. Potential risk factors examined were: alcohol consumption, physical activity, tobacco smoking, serum cotinine, serum lipids, body mass index, blood pressure, hypertension, non-insulin dependent diabetes mellitus and social class. In eligible men with Le(a-b-), N = 280 (9.6%), alcohol was the only risk factor associated with risk of IHD. There was a significant inverse dose-effect relationship between alcohol consumption and risk. The age-adjusted p-values of trend tests were for risk of non-fatal + fatal IHD: p = 0.03; for risk of fatal IHD: p = 0.02. In eligible men with other phenotypes, N = 2,649 (90.4%) only a limited and non-significant negative association with alcohol. In Le(a-b-) men, a group genetically at increased risk of IHD, the risk was strongly and significantly negatively correlated with alcohol consumption.
The purpose of this study was to explore the attitudes of genomics researchers in a pediatric setting in the context of regulatory guidance recommending the disclosure of clinically significant research findings.
A validated 32-item questionnaire was sent to 107 researchers with two large-scale projects (the Canadian Pediatric Cancer Genome Consortium and the Finding of Rare Genes Canada Consortium). We examined researchers' attitudes toward obligations to offer genomic research results (including if the participant was deceased, a relative, or a child), influence of the certainty/severity of the condition on this obligation, and personal experiences.
Of the 107 researchers, 74 (69%) responded. Researchers did not feel a strong responsibility to look for meaningful incidental results in the research genomic data set (n = 27, 37%). However, once identified, they felt participants had a strong right to receive them, irrespective of being incidental (n = 50, 68%) or primary targets (n = 64, 87%). There was a high degree of support for informing siblings of genomic results (n = 46, 62%), especially for treatable conditions (n = 56, 76%). Less than half of the participants indicated that their research ethics board required an offer of results (n = 34, 46%) or provided a detailed process (n = 16, 22%).
Researchers strongly support the offer of targeted and incidental genomic research results to participants. Greater regulatory guidance is needed for a consistent approach.