The doctor's kid.

Ann Emerg Med

University of Colorado School of Medicine, Denver, CO, USA.

Published: April 2010

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http://dx.doi.org/10.1016/j.annemergmed.2009.09.005DOI Listing

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Article Synopsis
  • Statins are a primary treatment for heterozygous familial hypercholesterolemia, but there's concern they may increase the risk of type 2 diabetes; however, some studies suggest these patients might actually have a lower prevalence of diabetes.
  • A worldwide study analyzed data from nearly 25,000 adults with heterozygous familial hypercholesterolemia, looking at factors like age, BMI, and diabetes status while excluding certain groups to focus on the risk of type 2 diabetes.
  • The results showed a 5.7% prevalence of type 2 diabetes in the overall population studied, with a lower rate of 4.1% among those with genetically confirmed heterozygous familial hypercholesterolemia
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Alterations in the nuclear envelope are linked to a variety of rare diseases termed laminopathies. A single amino acid substitution at position 12 (A12T) of the human nuclear envelope protein BAF (Barrier to Autointegration Factor) causes Néstor-Guillermo Progeria Syndrome (NGPS). This premature ageing condition leads to growth retardation and severe skeletal defects, but the underlying mechanisms are unknown.

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