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Biomedical subjects

B B Jacobsen

Publications and source records attributed to B B Jacobsen.

At least 55 records · Page 3Linked to original sources
PubMed1986

Fatal familial cholestatic syndrome in Greenland Eskimo children.

A syndrome of intrahepatic cholestasis leading to death in early childhood was studied in 16 Greenland Eskimo children. The pedigrees are compatible with autosomal recessive inheritance. Jaundice, bleeding, pruritus, malnutrition, steatorrhoea, osteodystrophy and dwarfism were typical clinical features. Eight had died between the ages of six weeks and three years due to bleeding or infections. Hyperbilirubinaemia, profound hypoprothrombinaemia, thrombocytosis and elevated alkaline phosphatase levels were evident. Serum calcium, phosphate and parathyroid hormone levels indicated a secondary hyperparathyroidism. Hepatic fibrosis developed with increasing age. Follow-up of the surviving patients was 4 to 30 months. The aetiology of the disease is unknown. The syndrome has some features in common with previously described patients with familial intrahepatic cholestasis. No specific treatment is available. Genetic counselling is essential.

Celiac Disease↗
PubMed1985

Urinary cyclic AMP in spot urine of healthy children.

We present reference values for the excretion of cAMP in spot urine collected between 09.00 and 12.00 hours in 143 healthy children aged 2-200 months. The excretion of cAMP was creatinine-corrected and expressed as a substance concentration ratio (UcAMP/crea)U due to a positive significant correlation between the excretion of cAMP and creatinine (r = 0.68, p less than 0.001). The mean value (95% significance limits) for (UcAMP/crea)U was 748 mumol/mol (254-2206 mumol/mol). A logarithmic transformation of the ratio was used, since preliminary analysis showed uneven distribution; when the logarithmic transformation was used, the data appeared evenly distributed. There was no significant difference between the results for girls and boys. The value of lg(UcAMP/crea)U was related to the age or body surface area with decreasing values at higher age or body surface area. (r = -0.55 and r = -0.57, p less than 0.001). Spot urine for measurement of urinary cAMP instead of a 24 h collection appears preferable due to the practicability of the test in children.

Adolescent↗
PubMed1983

Primary hyperparathyroidism in infancy associated with familial hypocalciuric hypercalcemia.

Clinical and biochemical evidence of primary hyperparathyroidism (prim. HPT) is reported in an infant with hypotonia, feeding problems and constipation from birth. Following a partial parathyroidectomy at the age of 12 months, the clinical condition improved. In her sister, mother and three other maternal relatives a familial hypocalciuric hypercalcemia (FHH) was subsequently demonstrated. All were clinically healthy in spite of increased total and ionized serum calcium, normal serum parathyroid hormone concentration, low urinary calcium excretion and normal renal excretion of cyclic AMP. Similar findings appeared in our patient after parathyroidectomy. An autosomal dominant inheritance of FHH is suggested. It is thus demonstrated, that a mother with FHH may give birth to healthy children with FHH as well as to infants with prim. HPT associated with FHH.

Adolescent↗
PubMed1983

The renin-aldosterone system in nephrogenic diabetes insipidus and the influence of hydrochlorothiazide and indomethacin.

Three generations of a family with nephrogenic diabetes insipidus were studied. Treatment of a male infant patient with hydrochlorothiazide normalized the serum sodium concentration and improved the clinical condition, but did not influence the polyuria. Although indomethacin alone was without long-term effect, combined therapy with hydrochlorothiazide and indomethacin regulated serum sodium better than hydrochlorothiazide alone. The renin-aldosterone system was not activated in healthy carriers or patients with nephrogenic diabetes insipidus neither in infancy during severe hypernatremic dehydration nor in adult patients.

Adolescent↗
PubMed1982

Nation-wide TSH-screening with low recall rate. Laboratory results of a two-year study.

The laboratory results from the Danish neonatal TSH screening programme for congenital hypothyroidism are reported for a period of 2 years. The screening was based on a single determination of TSH in blood samples taken on the fifth day of life (PKU-filterpaper). The TSH assay (double antibody radioimmunoassay) has a sensitivity of 10 mU TSH/1 blood and a precision of 20-30%. 127,111 samples have been tested. In 3% TSH was greater than 10mU/1 and in 0.64% greater than 25 mU/1. The cut-off point was fixed at 25 mU TSH/1. Values above this level were corroborated by a T-4 radioimmunoassay on the original blood specimen. TSH greater than 25 mU/1 together with T-4 less than 45 nmol/1 blood was found in 37 samples. In 18 samples with TSH greater than 25 mU/1 there was no material left for the T-4 determination. These 55 samples (37 + 18) resulted in a request for a venous sample (recall rate 0.043%). An elevated TSH was verified in 32 of the 55 samples. The repeat samples were collected on average on the 25th day after birth. Three of the 32 babies were clinically diagnosed before the screening result was available.

Congenital Hypothyroidism↗
PubMed1982

Congenital primary hypothyroidism and HLA.

Previous studies have suggested an association between congenital hypothyroidism and HLA-Aw24 or B18 antigens. The frequencies of HLA-A, B and C antigens were studied in 33 unrelated Danish patients with congenital hypothyroidism (5 with aplasia of the thyroid gland, 16 with ectopic thyroids and 8 with thyroid dyshormonogenesis). HLA-Aw24 only appeared in patients with ectopic thyroids and HLA-B18 was only seen in patients with dyshormonogenesis. However, the frequencies of HLA antigens in patients and in a large number of controls did not differ statistically significantly. We conclude that HLA typing is without any predictive value in determining the risk of developing or giving birth to a child with congenital hypothyroidism.

Child, Preschool↗
PubMed1982

X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family.

In a Greenlandic family comprising 171 descendants in 5 generations, 11 boys had died with a clinical picture of adrenocortical insufficiency within three weeks of birth. Three treated male patients, who survived, were closely studied. The adrenal glands could not be identified by computed tomography. The clinical picture and biochemical studies were consistent with congenital adrenal hypoplasia. The pedigree indicates X-linked recessive inheritance. The pubertal development was delayed in two patients aged 14 years. LHRH stimulation yielded a significant rise in LH and FSH in at least one of the patients, adrenal androgen values were very low. A family instruction programme has been set up.

Adolescent↗
PubMed1981

Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.

Succinylacetone was excreted in the urine from four patients, with hereditary tyrosinemia i.e., two patients with the severe infantile type with fatal outcome and two patients with less severe juvenile form. In the urine from two patients with neonatal transient tyrosinemia and from normal individuals succinylacetone was not detectable. The urinary excretion of delta-aminolevulinic acid was also increased in all patients with hereditary tyrosinemia compared to patients with neonatal transient tyrosinemia and to normal individuals. The results presented support the hypothesis of a deficiency of fumarylacetoacetase in hereditary tyrosinemia. Furthermore an analytical method for the quantitative determination of succinylacetone in urine using GC-MS is described.

Acetoacetates↗
PubMed1981

Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins.

Serial determinations of serum thyroxine (T4), triiodothyronine (T3), thyrotropin (TSH), thyroid hormone-binding globulin (TBG), prealbumin (TBPA) and albumin were performed in a euthyroid girl with TBG deficiency and in her mother for a period of 22 months after delivery. At 8 days old the child had a serum TBG concentration around 50% of normal level which remained essentially unchanged during infancy. Total serum T4 and T3 concentrations were low, the free serum T4, free serum T3 and serum TSH concentrations were normal. The mother had received thyroid hormone from the age of 15 years. Her serum TBG level at 6 weeks post partum was similar to that of non-pregnant adults but decreased to about 50% of normal level, indicating a TBG deficiency. She remained euthyroid after withdrawal of T4 therapy. Serum TBPA and albumin concentration were normal in mother and child. An X-linked inheritance of the TBG deficiency was suggested from a study of the family.

Adult↗
PubMed1981

Congenital hypothyroidism in Denmark.

Among 436 959 live infants born between 1970 and 1975 in Denmark were 72 (49 girls and 23 boys) who developed primary hypothyroidism, giving an incidence of 1 in 6064 live births. In the oldest group (6 to 8 years of age) the incidence was 1 in 5100. The age at diagnosis ranged from 1 week to 5 years 4 months; 10% were diagnosed within the first month, 40% within the first 3 months, and 70% within the first year of life. Thyroid scintigrams were available for 43 patients, 72% had aplastic or hypoplastic thyroid glands, 12% had ectopic thyroid glands, 16% had goitres. Patients with aplastic or hypoplastic thyroids tended to be diagnosed earlier than those with ectopic thyroid glands. The calculated incidence in the presence study is lower than that suggested by the Danish neonatal screening programme.

Age Factors↗
PubMed1980

Treatment of girls with excessive height prediction. Follow-up of forty girls treated with intramuscular estradiol and progesterone.

In a follow-up study of 40 tall girls treated with intramuscular estradiol and progesterone, the final height, bone age maturation, side effects and acceptance of treatment were evaluated. The mean duration of treatment was 18 months. During treatment, mean height increase was 6.5 cm (height velocity 3.7 cm/year), which is nearly 50% reduction of normal growth rate. The mean increase in bone age was 2.7 years (bone age velocity 1.8 years/year), which approximates twice the normal maturation rate. The mean reduction in final height was 5.0 cm as evaluated by the method of Bayley. Pinneau (BP), 2.9 cm by the method of Tanner et al. (TW) and 3.0 cm by the method of Roche et al. (RWT). The reduction was greatest when treatment was started before menarche, according to all three prediction methods. When treatment was started after menarch the calculated height reduction was greatest according to the BP method. There was good agreement between the three prediction methods in girls with a bone age below 12 years before treatment. In girls with a bone age above 12 years the height reduction by the BP method was much greater than when measured by the other methods. Side effects evaluated at follow-up were minimal and first menstruation occurred within 3 months (mean) after cessation of treatment. The number of pregnancies was estimated to be normal for age. All but three accepted the treatment. It is concluded that this type of treatment must be restricted to girls with severe psychological problems due to excessive height prognosis and selection for treatment must be based on an individualized evaluation.

Adolescent↗