0000000000055005
AUTHOR
U. Dimita
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.
Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.
Lipids, Lipoproteins and Apolipoproteins A<sub>I</sub> A<sub>II</sub>, B, C<sub>II</sub>, C<sub>III</sub> and E in Newborns
In this study lipid and apolipoprotein patterns were investigated at birth and compared with those of adults. In cord sera, cholesterol, triglycerides, low-density lipoprotein (LDL) cholesterol and high-density lipoprotein (HDL) cholesterol were 38.2, 46.2, 50.5, and 31.9%, respectively, of adult values. Apolipoprotein A<sub>II</sub>, B and C<sub>III</sub> were 48.6, 30.6 and 44.5% of adult values, while apo A<sub>I</sub>, apo C<sub>II</sub> and apo E showed values approaching those of adults (63.4, 73.3 and 89.7%, respectively). Also cholesterol/HDL cholesterol and LDL cholesterol/HDL cholesterol ratios were lower in newborns. In cord sera, l…
Transient Neonatal Hypercholesterolemia
In order to obtain new information about the relationship between transient neonatal hypercholesterolemia and adrenal gland function, we have studied 39 healthy babies found hypercholesterolemic at birth and 39 healthy controls with normal cholesterol levels. The results of this study have shown that levels of dehydroepiandrosterone sulfate in cord blood were not significantly different in the hypercholesterolemic subjects compared with normolipidemic controls (1.4 +/- 0.5 micrograms/dl vs 1.3 +/- 0.5 mu/dl). Moreover correlations between this hormone and levels of total and LDL-cholesterol were not only not statistically significant but even positive (respectively r = +0.207 and +0.195). T…