Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.

Biallelic mutations in LEPRE1 result in recessively inherited forms of osteogenesis imperfecta (OI) that are often lethal in the perinatal period. A mutation (c.1080+1G>T, IVS5+1G>T) in African Americans has a carrier frequency of about 1/240.

Self-monitoring of blood glucose improved glycaemic control and 10-year coronary heart disease risk profile of type 2 diabetic patients.

Background: The debate over the overall benefits of self-monitoring of blood glucose in type 2 diabetes patients is still continuing. We aimed to assess the difference in glycaemic control and coronary heart disease (CHD) risk levels of experimental type 2 diabetes patients provided with facilities for self-monitoring blood glucose and their counterparts without such facilities.

Methods: Sixty-one patients who had no prior experience in using glucometers were studied as intervention (n = 30) and control (n = 31) groups.

Anaemia and kidney dysfunction in Caribbean type 2 diabetic patients.

Background: Anaemia has been shown in previous studies to be a risk factor for cardiovascular disease in diabetic patients with chronic kidney disorder. This study was aimed to assess the prevalence of anaemia and kidney dysfunction in Caribbean type 2 diabetic patients that have been previously shown to have a high prevalence of the metabolic syndrome.

Methods: 155 type 2 diabetic patients and 51 non-diabetic subjects of African origin were studied.

Beta-globin gene cluster haplotypes and alpha-thalassemia in sickle cell disease patients from Trinidad.

In this study, we have determined the frequency of beta(S) haplotypes in 163 sickle cell disease patients from Trinidad. The alpha(3.7) globin gene deletion status was also studied with an observed gene frequency of 0.