[Study of steroid hormones in preadolescent Danish children].
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Biomedical subjects
Publications and source records attributed to P S Pedersen.
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The first Scandinavian hyperphenylalaninaemic patient with a cofactor deficiency is described. By neonatal screening the Guthrie test showed a serum phenylalanine of 302 mumol/1 (5 mg/dl), which at age 6 weeks had fallen to high normal values. At age 5 1/2 months the serum phenylalanine was around 2000 mumol/1 and the child presented with severe neurological symptoms. The diagnosis of defect dihydrobiopterin biosynthesis was made by high performance liquid chromatography of the urine. Loading tests followed by daily treatment of the missing cofactor was able to keep the serum phenylalanine in the normal level. Because of persisting, yet diminishing neurological symptoms neurotransmitter treatment was started. Breast feeding as the cause of the low neonatal levels of serum phenylalanine and the late start of clinical symptoms is proposed and the importance of screening all hyperphenylalaninaemic newborns for defect biopterin metabolism is stressed.
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The clinical and biochemical findings in a four-year-old girl with prolidase deficiency, treated with L-proline, manganese and ascorbic acid, are presented.
In this study of intrinsic asthma (IA) in children the pathogenic role of bacteria in respiratory disease was elucidated by a basophil histamine liberation technique. Several strains of bacteria caused release of histamine from peripheral leukocytes in vitro. Normal, non-infectious and non-atopic children frequently responded in a similar fashion, although positive responses were less frequent. It seems that two different mechanisms of bacterial histamine release exist: interaction with the basophil-bound IgE and a direct interaction with the cell surface. It is suggested that the histamine release takes place only in the lung of IA patients, where a defective pulmonary barrier could permit the bacteria to enter, but not in healthy individuals.
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Two siblings, suffering from recurrent thrombosis and protein-losing enteropathy are presented. Histopathological examination of the liver in one of the patients, who died of multiple thrombosis, showed changes characteristic of Congenital Hepatic Fibrosis. Coagulation studies in the second child revealed decreased antithrombin-III in plasma, which might have had pathogenetic implications for the thrombosis tendency seen in both patients.
The correlations between monthly bulk milk cell counts and the actual frequency of mastitis was investigated in 399 Danish dairy farms with a total of about 7000 cows. The correlation coefficients varied from 0.3 to 0.5. Correlations were improved by using more than one cell count, but not further improved by using more than two cell counts. The correlations were higher for large than for small herds. It was not possible by combining cell counts in different ways, as indicated in (Table IV, to point out every heavily mastitis-affected herd without also pointing out some not so heavily affected ones. Table IV shows what infection levels can be expected when different criteria based on bulk milk cell counts are applied. The figures cannot be transferred directly from Danish conditions to conditions in other countries, but similar tendencies can probably be found anywhere.
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An autosomal dominant hereditary syndrome is described consisting of congenital deafness, characteristic finger and toe deformities, with absence of the proximal interphalangeal joint together with syndactylia. The syndrome has been observed in 5 members of a Danish family, and the study confirms the autosomal dominant trait.