Browsing by keyword "Pancreatic Diseases"

Now showing items 1-2 of 2

    • Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome
      Deutsch, Curtis K.; Hreczko, Tania; Holmes, Lewis B. (2013-03-06)
      BACKGROUND: Here we apply objective, reliable methods of dysmorphology diagnosis to a patient with Johanson-Blizzard syndrome (MIM #243800). Using an extensive normative database, we computed standardized scores on a graded continuum for operational definitions of nasal alar hypoplasia, a commonly observed feature of this condition. CASE: Most of these measurements in this case were greater than 2 standard deviations below the mean, adjusted for age, gender, and ethnicity. CONCLUSION: This report provides a worked example of quantitative anthropometric assessment in the context of a case report, using tools that may find general application in clinical genetics.

    • The iddm4 locus segregates with diabetes susceptibility in congenic WF.iddm4 rats
      Mordes, John P.; Leif, Jean H.; Novak, Stephen; DeScipio, Cheryl; Greiner, Dale L.; Blankenhorn, Elizabeth P. (2002-10-29)
      Viral antibody-free BBDR and WF rats never develop spontaneous diabetes. BBDR rats, however, develop autoimmune diabetes after perturbation of the immune system, e.g., by viral infection. We previously identified a disease-susceptibility locus in the BBDR rat, iddm4, which is associated with the development of autoimmune diabetes after treatment with polyinosinic:polycytidylic acid and an antibody that depletes ART2(+) regulatory cells. We have now developed lines of congenic WF.iddm4 rats and report that in an intercross of N5 generation WF.iddm4 rats, approximately 70% of animals either homozygous or heterozygous for the BBDR origin allele of iddm4 became hyperglycemic after treatment to induce diabetes. Fewer than 20% of rats expressing the WF origin allele of iddm4 became diabetic. Testing the progeny of various recombinant N5 WF.iddm4 congenic rats for susceptibility to diabetes suggests that iddm4 is centered on a small segment of chromosome 4 bounded by the proximal marker D4Rat135 and the distal marker D4Got51, an interval of