European journal of clinical investigation
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Eur. J. Clin. Invest. · Feb 1995
Bone mineral density and its relationship to skin colour in Caucasian females.
Low bone mineral density (BMD) is associated with a high risk of osteoporosis and fracture. While women with darker skin, such as women of American African origin, are reputed to have lower risk osteoporosis and fractures compared with women with fair skin such as Caucasian women, with Oriental women having intermediate levels of risk, the reasons for these differences are not clear. We examined the relationship between BMD and skin colour in a population based study of 2005 Caucasian women with a mean age of 58.1 years, resident in Cambridge and categorized into fair, medium and dark complexions by self-report. ⋯ The associations remained after stratifying for smoking habit and years since menopause. In a cohort of Caucasian women resident at latitude 52 degrees North, fair-skinned women have lower BMD values than darker-skinned women. This association between skin colour and BMD may reflect sunlight exposure times and underlying vitamin D status.
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Eur. J. Clin. Invest. · Feb 1995
Screening for germline mutations of the p53 gene in familial breast cancer patients.
The constitutive DNA from members of four families showing predisposition to breast cancer was amplified by PCR in the region of exons 5, 6, 7 and 8 of the p53 proto-oncogene. Single-strand conformation polymorphism (SSCP) gels were used to compare patient DNA with mutant and wild-type control samples. ⋯ The lack of inherited mutations was confirmed for exons 5 and 7 by solid-phase DNA sequencing. The results lend further support to the view that inherited mutations in p53 alleles are not a significant contributor to breast cancer predisposition and it is not, therefore, clinically worthwhile to screen predisposed or potentially predisposed families for germline mutations in the p53 gene.
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Eur. J. Clin. Invest. · Dec 1994
Minimal model analyses of insulin sensitivity and glucose-dependent glucose disposal in black and white Americans: a study of persons at risk for type 2 diabetes.
We have examined the impact of race and positive family history of type 2 diabetes on glucose/insulin dynamics and the two components of glucose disposal in healthy, first-degree relatives of black and white American patients with type 2 diabetes mellitus who are at a greater risk from the disease and their healthy control subjects. Seventeen black and 15 white relatives were studied. Twenty-two black people and 24 white people, without family history of type 2 diabetes, served as healthy control subjects. ⋯ The mean SI was significantly (P < 0.02) lower (52%) in the black (3.67 +/- 0.56) than the white [7.50 +/- 1.93 x 10(-4) min-1 (mU1)-1] relatives. Comparing the healthy controls, the mean SI was significantly (P < 0.02) lower (51%) in black than white controls (4.84 +/- 0.78 vs. 9.71 +/- 1.27 x 10 min-1(mU1)-1]. Mean SG and KG were greater (P < 0.05) in the blacks than whites, irrespective of family history of diabetes.(ABSTRACT TRUNCATED AT 250 WORDS)
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Eur. J. Clin. Invest. · Apr 1994
Systemic lupus erythematosus is associated with increased auto-antibody titers against calreticulin and grp94, but calreticulin is not the Ro/SS-A antigen.
Auto-antibodies against purified human calreticulin were determined by an ELISA in sera from patients with systemic lupus erythematosus (SLE) and from healthy persons or patients without an autoimmune disease. More than 80% of patients with SLE had titers exceeding the highest value obtained in the group without SLE. Almost 30% of the patients had also elevated auto-antibody titers against purified rat grp94, another resident ER-protein of the KDEL-protein family, but not against rat ERp72 (CaBP2), an ER-resident protein of the proteindisulfide isomerase family. It could, however, be excluded that calreticulin is the Ro/SS-A antigen on the basis of the following observations: 1) Calreticulin purified from rat, bovine or human liver contained far less than 1 mol of phosphate per mol of calreticulin, showed an E280/E260-absorption ratio of about 2.0, and did not contain extractable RNA; 2) Sera from patients with SLE did not react with or precipitate endogenous calreticulin from Hep G2 cells; they did, however, precipitate hY-RNA from these cells; 3) Sera from SLE-patients, but not anti-calreticulin antisera precipitated [32P]-hY-RNA from [32P]-labelled Hep G2 cells.