Peutzjeghers Syndrome

Peutz-Jeghers syndrome is inherited in an autosomal dominant manner. Birth prevalence rates have been reported anywhere from 1:25,000 to 1:280,000. The disorder can occur in any racial or ethnic group.[3] Penetrance in PJS appears to be variable, and genotype-phenotype correlations are currently poorly characterized. In families with clinically evident PJS, some members appear to demonstrate only mucocutaneous pigmentation whereas others have both pigmentation and polyps. Approximately half of probands have an affected parent, and the other half have no family history of PJS, suggesting the presence of either genetic heterogeneity or modifier genes that can modulate the effects of mutant STK11.[3,13] The proportion of individuals who carry de novo mutations is currently unknown.

Amos et al. recently described the risk to family members after the identification of a proband with PJS. Fifty percent of probands will have an affected parent, although family history may appear negative because of lack of signs or symptoms of PJS, or the early death of a parent due to an unrelated cause. Siblings of the proband have a 50% risk of PJS if one parent is affected; if neither parent is affected, the risk appears to be minimal. Children of PJS patients have a 50% chance of inheriting the disorder if a positive family history or a STK11 germline mutation is identified. The risk to the proband's offspring cannot be accurately determined if the proband has a negative family history or undetectable STK11 mutation.[3]

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook

Post a comment