Assessment of body composition in the prader-willi syndrome using bioelectrical impedance

The accurate assessment of body composition is of importance in the Prader-Willi syndrome. Many techniques are not applicable due to ethical or practical reasons. However, the bioelectrical impedance technique is a rapid, painless, noninvasive method of estimating total body water and hence, fat-free mass in obese children and adolescents. We have compared estimates of total body water derived from bioelectrical impedance with actual measurements taken, using H₂¹⁸O dilution, in 14 children with Prader-Willi syndrome. Existing equations for predicting total body water from impedance showed a bias to underestimate actual measures of body water. There were positive correlations between the degree of underestimation with age and body fatness. It is possible that changes in body shapes influence bioelectrical impedance measurements in obese individuals, and that a prediction equation based upon a normal population will not be applicable to obese individuals. © 1992 Wiley-Liss, Inc.     

Fetal lumbar spine: measuring axial growth with US

Ultrasound (US) can be used to visualize vertebral segments, suggesting a quantitative means of studying vertebral column growth in utero and thus a means of detecting developmental abnormalities. US images of the lumbar spine were obtained in 128 clinically normal fetuses between the gestational age of 11 through 41 weeks. A large-aperture, dynamically focused US system capable of regional magnification was used. Average lumbar spacing was calculated from distance between centrums of at least four lumbar bodies. The average distance between lumbar centrums increased nearly linearly throughout the second and third trimesters (r2 = 0.98). Enhanced anatomic display implies new capabilities for recognizing developmental abnormalities antenatally.     

The fragile X syndrome.

An amplification of a highly unstable DNA element has been identified at the fragile X locus in Xq27.3. This sequence appears to be both the source of the primary mutation causing the fragile X syndrome, apparently having its causative effect through the methylation of the FMR-1 HTF island and the region of cytogenetic fragility. The direct analysis of the genotype of carrier and affected individuals can be used as a direct diagnosis tool which will improve both the accuracy and speed of diagnosis. The identification of hereditary unstable DNA in a disease with such a wide level of non-penetrance and variable phenotype may give clues as to the basis of non-penetrance in other human genetic disorders.