Serum thyroglobulin levels in preterm infants with and without the respiratory distress syndrome. I. Cord blood study.

Cord serum levels of thyroglobulin (Tg) and thyroid stimulating hormone (TSH) in 147 term and preterm infants were related to gestation age, birth weight, respiratory distress syndrome (RDS), and several perinatal factors by means of multiple linear regression analysis. None of the perinatal factors influenced Tg and TSH cord serum levels. However, in infants who developed RDS, Tg and TSH cord serum levels differed significantly from values in infants who did not develop this syndrome.

Serum thyroglobulin levels in preterm infants with and without respiratory distress syndrome. II. A longitudinal study during the first 3 weeks of life.

Serum thyroglobulin (Tg) and thyroid-stimulating hormone (TSH) levels were measured in 182 preterm and term infants. Samples were taken from cord blood, and at 1, 3, 7, 14, and 21 days after birth. The infants were divided into groups according to their perinatal characteristics: infants who were appropriate for gestational age, infants who were small for gestational age, and preterm infants who developed respiratory distress syndrome.

Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.

The activity of peroxisomal enzymes was studied in human liver and cultured human skin fibroblasts in relation to the finding (Goldfischer, S. et al. (1973) Science 182, 62-64) that morphologically distinct peroxisomes are not detectable in patients with the cerebro-hepato-renal (Zellweger) syndrome.

Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome.

We have analyzed the phospholipid composition of various organs of patients with the cerebro-hepato-renal (Zellweger) syndrome. The phospholipid composition of tissues from controls and patients was very similar except for their plasmalogen contents. In controls about 50% of the phosphatidylethanolamine fraction of brain, heart, kidney and skeletal muscle and about 10% of that fraction in control liver tissue was found to consist of plasmalogen.

Concentration of plasma thyroglobulin and urinary excretion of iodinated material in the diagnosis of thyroid disorders in congenital hypothyroidism.

In this paper we describe methods for the early aetiological diagnosis of congenital hypothyroidism, using beside the classical T4, T3 and TSH plasma concentrations, four additional parameters in plasma and urine. The first one is thyroglobulin (Tg). In normal children of more than one year of age and in adults, 5-35 ng/ml plasma is found, in neonates 2-3 weeks old, this level is 10-250 ng/ml.

The human thyroglobulin gene contains two 15-17 kb introns near its 3'-end.

We have cloned overlapping segments of the human thyroglobulin gene from a genomic cosmid library. Restriction mapping and electron microscopy show that a region of 38 kb at or near the 3'-end of this gene encodes only 850 nucleotides or 10% of the messenger RNA (mRNA) sequence. The region contains five exons of 130-210 nucleotides, split by introns of 1 to 15-17 kb.

Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.

The clinical features of 16 patients suffering from cerebro-hepato-renal syndrome are presented. Five of these children lived beyond 2 years. Four of them are still alive.

Serum thyroglobulin levels: the physiological decrease in infancy and the absence in athyroidism.

The cord serum thyroglobulin levels of 218 neonates are much higher than the levels after the first year of life and show a wide range. A relation exists between a shorter gestational age and increased thyroglobulin levels. The serum thyroglobulin levels decrease within a few months after birth, but throughout the first year of life, these levels are still higher than the normal values at later ages (5-35 ng/ml).

Mild variant of argininosuccinic aciduria.

A 7 and one half-year-old boy with a massive excretion of argininosuccinic acid is described. He exhibited only moderate mental retardation, cerebellar ataxia and both abnormal hair and skin. Argininosuccinate lyase activity in the erythrocytes of his parents and his sister was in the range expected for heterozygotes.

Euthyroidism via iodide supplementation in hereditary congenital goiter with thyroglobulin deficiency.

We have studied hereditary congenital goiter in an inbred strain of goats. On a normal diet, the goats were hypothyroid and iodide taken up by the gland was released rapidly in the form of iodinated macromolecular material. This resulted in a low thyroidal iodine pool.

Hereditary congenital goiter with thyroglobulin deficiency in a breed of goats.

Hereditary congenital goiter occurring in an inbred breed of goats is reported. The goitrous goats were severely hypothyroid. Thyroglobulin-related antigens could only be detected by radioimmunoassay in amounts of 0.

Aberrant origin of left pulmonary artery (vascular sling). Report of the clinical and anatomic features in three patients.

The clinical and anatomical findings in 3 patients with aberrant origin of the left pulmonary artery from the right pulmonary artery ("vascular sling") are presented. All 3 children symptoms of severe respiratory distress shortly after birth. In 2 children the correct diagnosis was suggested from the roentgenogram of the thorax, because of an indentation in the anterior wall of the esophagus.