No abstract

SYNOPSIS An immunoradiometric assay for human ferritin has been developed. Concentrations of ferritin in the serum of male and female controls and patients with iron deficiency and iron overload were measured.Male controls were found to have a significantly higher mean concentration of serum ferritin than females. Patients with iron deficiency had significantly lower levels than normals of either sex and patients with iron overload had greatly elevated serum ferritin concentrations. It is thought that the serum ferritin concentration may reflect the iron stores of the body. (Reissmann and Dietrich, 1956;Aungst, 1966).Previous methods for the estimation of ferritin have been relatively insensitive (Reissmann and Dietrich, 1956; Beamish, Llewellin, and Jacobs, 1971) and have been able to detect ferritin concentrations in the serum corresponding to about 2 5 ,ug of ferritin iron per 100 ml. Using these techniques it has not been possible to detect ferritin in normal or iron-deficient sera. The present paper describes a sensitive method for measuring ferritin protein and reports the concentration in the sera of normal subjects and those with iron deficiency and iron overload.Received for publication 13 January 1972. Materials and MethodsA horse ferritin immunoadsorbent was prepared as previously described (Miles and Hales, 1968). One hundred mg of diazocellulose and 200 mg of horse ferritin (Koch Light Limited) were reacted for 48 hr at 4°C in the dark. The immunoadsorbent was washed 10 times in 0-15 M phosphate buffer pH 7*4 containing 9 g per litre sodium chloride. After this washing the free ferritin, as measured by OD at 430 nm of the supernatant, fell to zero. However, on storing the immunoadsorbent for several days the OD at 430 nm of the supernatant increased and the horse ferritin immunoadsorbent was always rewashed three times before use: 22 5 mg (11 25%Y) of the horse ferritin was coupled giving an immunoadsorbent with 225 mg antigen per g cellulose.The antibodies from 1 ml of both rabbit antihorse ferritin serum and rabbit antihuman ferritin serum were extracted separately with the horse ferritin immunoadsorbent by incubation at 4°C for three to four days. After washing six times in the phosphatesaline buffer the protein uptakes were measured by the method of Lowry, Rosebrough, Farr, and Randall (1951)

Genomics was initiated when robotics made possible the characterisation of large numbers of DNA fragments and when ever improving computers with dedicated software were applied to the localisation in the genome of these sequences and to the analysis of their content. By enabling the generation and management of large amounts of DNA based sequences these tools have changed our perception of the genomes of living organisms. These data, as applied to humans, are contributing to the understanding of gene function, disease processes, and evolution of our species. Presently they are changing the research strategies for identifying genetic variations influencing disease susceptibility and response to treatment. These advances will have a profound impact in biomedicine.

Aims and Methods: Thyroid function tests were initially carried out on 122 children with Down's syndrome aged 6-14 years and then repeated four to six years later in 103 adolescents (85% of the group of 122) when they were aged 10-20 years (median 14.4 years). At the second test two were hypothyroid and two with isolated raised thyroid stimulating hormone (IR-TSH) were receiving thyroxine. Results: At the first test there were 98 (80%) euthyroid children: 83 were retested and four (5%) had IR-TSH. At the first test 24 had IR-TSH: 20 were retested and 14 (70%) had become normal. Seventeen with IR-TSH on initial testing had a thyrotrophin releasing hormone test within three months; TSH had become normal in eight (47%) of these children. There was no association between reported clinical symptoms and IR-TSH, but there were clear symptoms in one of the two with definite hypothyroidism. Conclusions: The likelihood ratio for a positive result on second testing when raised TSH and positive antibody status on first testing are combined is 20. This suggests initial testing results could be used as a basis to select a subgroup for further testing at say five yearly intervals unless new symptoms emerge in the interim. It also suggests that yearly screening (as recommended by the American Academy of Pediatrics, 2001) is probably not justified in the first 20 years of life.

A novel form of GH insufficiency has been observed after low dose irradiation in childhood in which an abnormality of periodicity and a quantitative reduction in GH secretion appears restricted to puberty.

People with the same glucose tolerance may demonstrate variable plasma 1,5AG concentrations depending on their renal threshold for glucose. This inherent characteristic is likely to limit the usefulness of the test when monitoring or screening for diabetes.

Large-scale trials of screening for biotinidase, CAH, MCAD and GA1 should be conducted, with careful evaluation to establish their clinical effectiveness and cost-effectiveness in practice. Screening for the latter two disorders would be dependent upon the use of tandem mass spectrometry (tandem MS). The application of tandem MS to newborn screening requires further evaluation. The extension of neonatal screening programmes to other IEMs is not currently justified.

Objective-To define the evolution of prepubertal growth in atopic dermatitis and the factors influencing that growth pattern. Methods-Height and height velocity over two years, weight, triceps and subscapular skin fold thickness, and bone age were assessed in 80 prepubertal patients with atopic dermatitis and a control group of 71 healthy prepubertal school children. Conclusions-Prepubertal children with atopic dermatitis are not short compared with controls. However, as they approach the teenage years their height velocity decreases, the proportion of children with extremely low height velocity increases, and the delay in bone age increases. These features are consistent with the pattern of growth seen in people with constitutional growth delay. (Arch Dis Child 1998;79:169-172) Results-Height