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PubMed1980

Neonatal screening for congenital hypothyroidism.

Presently active screening programs for the detection of congenital hypothyroidism are highly effective in the diagnosis of intrinsic disease of the thyroid associated with both hypothyroxinemia and elevated serum TSH. For other disorders of thyroid function, which are numerically less important, the programs are hampered by a high rate of false positive results. The physician's response to notification of suspect status for a given infant must be guided by an understanding of the specific nature of the screening program in his area.

Congenital Hypothyroidism↗
PubMed1998

Clinical features and outcome of eight infants with intrahepatic porto-venous shunts detected in neonatal screening for galactosaemia.

Of 18 newborn infants found to have persistent galactosaemia and without enzyme deficiencies, intrahepatic porto-venous (P-V) shunts were the cause in 8 cases. We retrospectively analysed the clinical and biochemical features of the eight infants. Four patients received prednisolone, one of whom with heart failure owing to arteriovenous shunts also underwent hepatic arterial embolization. The other four patients were merely observed without receiving drug therapy. Regardless of treatment, the P-V shunts disappeared in five infants before the age of 1 y and persisted in three others. All infants showed mild or moderate abnormalities in liver function tests. None exhibited hyperammonemia or neuropsychiatric symptoms related to the shunts. The data indicated that the prognosis of infants with intrahepatic P-V shunts is generally good. In the absence of complications related to the P-V shunts, no treatment other than galactose elimination diet is indicated.

Antineoplastic Agents, Hormonal↗