Diagnostic Evaluation

The diagnostic tests bellow are listed in order of their application for diagnostic evaluation:

G-banded chromosome analysis is undertaken in every individual with suspected PWS to rule out chromosomal abnormalities leading to PWS or producing similar phenotypes. DNA methylation testing is done as an initial evaluation for all patients with suspected PWS and will identify all patients except the ones with balanced chromosomal translocations. (For more detailed explanation of DNA methylation testing, see Angelman Syndrome). Fluorescence in situ hybridization (FISH) analysis using commercially available probes specific for the SNRPN locus is done to look for 15q11q13 deletions after positive DNA methylation testing,[18] UPD analysis is done in cases of abnormal DNA methylation and normal FISH analysis. This testing protocol uses DNA polymorphisms to trace the inheritance of chromosome 15. DNA specimens from both parents are necessary. IC mutation screening. In methylation-positive and FISH-and UPD-negative cases a search for an IC deletion can be done, but is not currently available for routine use.

For patients with negative DNA methylation analysis and normal chromosome analysis the diagnosis of PWS is ruled out.

GH deficiency. GH therapy was recently recommended for PWS because GH deficiency is well documented in ■ pi patients with PWS.[19] The favorable effect of GH therapy on linear growth and body composition was later reported, although issues of the priority of such therapy given the presence of more important PWS-associated problems was also discussed by Paterson and Donaldson.[20] Finally, several fatalities of children with PWS after initiation of growth hormone therapy were reported by Pfizer Inc. (the manufacturer of recombinant growth hormone; see www.pharmacia. com). The fatalities had one of the following complications: severe obesity, history of respiratory impairment/sleep apnea, or unidentified respiratory infection. These risk factors are now considered contraindications for growth hormone therapy in PWS.

Support and information for families with affected members can be obtained from the website of the PWS Association (USA) at www.pwsausa.org.

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.

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