[Glycogenoses. Diagnosis and classification].
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Child, Preschool↗
Biomedical subjects
O Søvik
Publications and source records attributed to O Søvik.
Fucosidosis: severe phenotype with survival to adult age.
A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of alpha-fucosidase was demonstrated in liver, tears, urine, sediment, and cultured fibroblasts. We conclude that severe deficiency or complete absence of alpha-fucosidase does not by itself preclude survival to adult age.
Adult↗
[Clinico-chemical laboratory tests in children. Establishment of reference values].
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Adolescent↗
Urinary cyclic AMP in infants admitted to a neonatal intensive care unit.
The urinary excretion of cyclic AMP was studied during the first 3 days of life in 46 randomly selected infants admitted to a neonatal intensive care unit. The data were compared with those of normal newborn infants. Urinary cyclic AMP concentrations were significantly correlated with gestational age (all patients), and with birth weight (all patients except infants of diabetic mothers (IDMs)). The urinary cyclic AMP/creatine ratio increased from day 1 to day 3 in normal newborns and in IDMs, and tended to increase also in small-for-gestational age (SGA), low birth weight (LBW), and sick, term infants, although the changes in the latter groups were not statistically significant. Four infants studied with parallel determinations showed increased cyclic AMP/creatinine ratio from day 1 to day 3 both in plasma and urine. All urinary cyclic AMP/creatine ratios were lower than the corresponding ratios found in plasma. In LBW infants, there was an inverse relationship between urinary cyclic AMP and serum calcium. In IDMs a positive correlation was observed between urinary cyclic AMP and blood glucose concentration. In conclusion, the excretion of cyclic AMP in sick newborn infants is influenced by the following factors: gestational age, postnatal age, birth weight, and derangements of serum calcium and blood glucose concentrations.
Blood Glucose↗
Studies in congenital generalized lipodystrophy. VI. Suppressible and non-suppressible insulin-like activities of plasma.
1. Suppressible and non-suppressible insulin-like activities (ILA) of plasma from 3 patients with congenital generalized lipodystrophy have been studied, employing isolated fat cells from rat epididymal adipose tissue. 2. In all 3 patients the fasting ILA was markedly increased compared with the normal controls. In one of the patients (I.T.) total ILA rose to about 800 muU per ml during an iv glucose tolerance test. 3. The observed total ILA was in all cases (controls included) equal to or slightly higher than the previously determined immunoreactive plasma insulin (IRI). The exact determination of ILA was, however, hampered by a dilution effect, which was present even at high plasma dilutions. 4. In 2 of the patients addition of insulin antiserum inhibited plasma ILA by about 50%. In the third patient (I.T.), who exhibited the highest insulin level, at least 85% of the activity was suppressed by insulin antibodies. The levels of non-suppressible ILA were higher than in the controls in terms of muU per ml, but lower than in the controls when related to total ILA. 5. These findings strongly support our previous conclusion that the elevated plasma insulin seen in congenital generalized lipodystrophy is mainly due to true pancreatic insulin. 6. Since the effect of plasma insulin on isolated fat cells were freely expressed, i.e. suppressible ILA was equal to or slightly lower than IRI, the presence of a circulating insulin antagonist in this disease may be excluded.
Adipose Tissue↗
Systemic and local immune responses after parenteral influenza vaccination in juvenile diabetic patients and healthy controls: results from a pilot study.
Diabetes patients suffer frequent complications and some excess mortality after influenza virus infection. Despite widespread agreement that diabetic patients should be routinely vaccinated against influenza, some reports claim that diabetics have a poor immune response to influenza vaccine. We have performed a pilot study to examine the humoral immune response of juvenile diabetics and matched healthy controls vaccinated with inactivated trivalent influenza vaccine. By enzyme-linked immunospot assay we found that both groups had comparable magnitude and kinetics of influenza-specific antibody secreting cell response. The influenza-specific antibody response in both serum and oral fluid were similar for both groups, and also showing a kinetic profile in accordance with our earlier data for healthy adults. Our study did not detect a difference in the humoral immune response between juvenile diabetics and healthy controls.
Adolescent↗