We have learned much in the past 10 years about how to help patients to acquire diabetes-related knowledge and skills and how to use strategies to help patients change behaviors. However, the application of knowledge and techniques should be guided by a relevant, coherent, educational philosophy. Empowerment offers a practical conceptual framework for diabetes patient education. Empowering patients provides them with the knowledge, skills, and responsibility to effect change and has the potential to promote overall health and maximize the use of available resources. It is an idea whose time has come for diabetes education.
The 17q21.31 inversion polymorphism exists either as direct (H1) or inverted (H2) haplotypes with differential predispositions to disease and selection. We investigated its genetic diversity in 2700 individuals with an emphasis on African populations. We characterize eight structural haplotypes that vary in size from 1.08 to 1.49 Mbp as a result of complex rearrangements and provide evidence for a 30 kbp H1/H2 double recombination event. We show that recurrent partial duplications of the KANSL1 (previously known as KIAA1267) gene have occurred on both H1 and H2 haplotypes and risen to high frequency in European populations. We identify a likely ancestral H2 haplotype (H2′) lacking these duplications, enriched among African hunter-gatherer groups yet essentially absent from West Africans populations. While H1 and H2 segmental duplications arose independently and prior to the human migration out of Africa, they have reached high frequencies recently among Europeans either due to extraordinary genetic drift or selective sweeps.
The OSCE is a highly reliable and valid clinical examination that provides unique information about the performance of individual residents and the quality of postgraduate training programs.
Mutations in the gene OCA2 are responsible for oculocutaneous albinism type 2, but polymorphisms in and around OCA2 have also been associated with normal pigment variation. In Europeans, three haplotypes in the region have been shown to be associated with eye pigmentation and a missense SNP (rs1800407) has been associated with green/hazel eyes (Branicki et al. in Ann Hum Genet 73:160–170, 2009). In addition, a missense mutation (rs1800414) is a candidate for light skin pigmentation in East Asia (Yuasa et al. in Biochem Genet 45:535–542, 2007; Anno et al. in Int J Biol Sci 4, 2008). We have genotyped 3,432 individuals from 72 populations for 21 SNPs in the OCA2-HERC2 region including those previously associated with eye or skin pigmentation. We report that the blue-eye associated alleles at all three haplotypes were found at high frequencies in Europe; however, one is restricted to Europe and surrounding regions, while the other two are found at moderate to high frequencies throughout the world. We also observed that the derived allele of rs1800414 is essentially limited to East Asia where it is found at high frequencies. Long-range haplotype tests provide evidence of selection for the blue-eye allele at the three haplotyped systems but not for the green/hazel eye SNP allele. We also saw evidence of selection at the derived allele of rs1800414 in East Asia. Our data suggest that the haplotype restricted to Europe is the strongest marker for blue eyes globally and add further inferential evidence that the derived allele of rs1800414 is an East Asian skin pigmentation allele.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-011-1110-x) contains supplementary material, which is available to authorized users.
The polymorphic inversion on 17q21, sometimes called the microtubular associated protein tau (MAPT) inversion, is an approximately 900 kb inversion found primarily in Europeans and Southwest Asians. We have identified 21 SNPs that act as markers of the inverted, i.e., H2, haplotype. The inversion is found at the highest frequencies in Southwest Asia and Southern Europe (frequencies of approximately 30%); elsewhere in Europe, frequencies vary from < 5%, in Finns, to 28%, in Orcadians. The H2 inversion haplotype also occurs at low frequencies in Africa, Central Asia, East Asia, and the Americas, though the East Asian and Amerindian alleles may be due to recent gene flow from Europe. Molecular evolution analyses indicate that the H2 haplotype originally arose in Africa or Southwest Asia. Though the H2 inversion has many fixed differences across the approximately 900 kb, short tandem repeat polymorphism data indicate a very recent date for the most recent common ancestor, with dates ranging from 13,600 to 108,400 years, depending on assumptions and estimation methods. This estimate range is much more recent than the 3 million year age estimated by Stefansson et al. in 2005.
Despite reports to the contrary, neovascularization occurs in a relatively small proportion of patients with recurrent varicose veins. All recurrent varicose veins associated with duplex-diagnosed neovascularization are also associated with persistent reflux in the GSV stump tributaries, thigh GSV, or both. Recurrence after primary varicose vein surgery is associated with inadequate primary surgery or progression of disease, and neovascularization alone is not a cause of recurrent varicose veins.
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