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Biomedical subjects

M A Preece

Publications and source records attributed to M A Preece.

230 records · Page 13Linked to original sources

Studies of vitamin D deficiency in man.

Highly sensitive assays have been developed that enable 25-hydroxycholecalciferol (25-hydroxyvitamin D3) and 25-hydroxyergocalciferol (25-hydroxyvitamin D2) to be measured in the same serum sample. With these assays it has been shown that endogenously produced cholecalciferol (vitamin D3) is important in man; the findings further emphasize the role of vitamin D metabolites as hormones rather than vitamins in the traditional sense. Dietary sources of vitamin D appear to be inadequate and vitamin D deficiency has been shown to the cause of rickets and osteomalacia in Asian immigrants to Britain. This condition may be readily treated with small doses of vitamin D. In addition, sub-clinical deficiency was found in the Asian community. In the elderly, also, vitamin D deficiency was established as an important cause of osteomalacia and again evidence for the existence of a sub-clinical deficiency state was found. It is therefore suggested that the present prophylactic practices should be reviewed. Secondary hyperparathyroidism (reflected by elevated concentrations of circulating immunoassayable parathyroid hormone) was shown to be the rule rather than the exception in vitamin D deficiency. Some patients, however, had failed to respond to a hypocalcaemic stimulus. In others, there were high concentrations of parathyroid hormone despite normal serum calcium concentrations. Thus the relationship between parathyroid hormone and metabolites of vitamin D may not be mediated through changes in serum calcium alone, and it is postulated that metabolites of vitamin D may directly affect the secretion of parathyroid hormone.

Adolescent↗

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues.

Maternal uniparental disomy of chromosome 7 (mUPD7) has been reported in around 10% of cases of Silver-Russell syndrome (SRS). This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of this condition. One candidate is epidermal growth factor receptor (EGFR) which maps to chromosome 7p12, a region homologous to an imprinted region on mouse chromosome 11. Using a restriction fragment length polymorphism, biallelic expression of EGFR was found in a range of normal human fetal tissues. Expression was also demonstrated in fibroblasts and lymphoblasts from SRS patients with mUPD7. Thus no evidence that EGFR is imprinted was found, making its involvement in SRS unlikely. However, EGFR was shown to be widely expressed in the human fetus, evidence that this gene plays an important role in early development.

Abnormalities, Multiple↗

A longitudinal study of the growth in height of boys and girls of West Bengal (India) aged six months of 20 years.

This study is the first Indian longitudinal growth survey from early childhood to maturity. The heights of 303 boys and 260 girls, from middle-class families in a semi-urban area south of Calcutta, were measured at regular intervals over periods of up to 14 years (between 1952 and 1966). The data were analysed using appropriate mixed longitudinal and curve-fitting techniques. Growth in height of these middle-class Bengali children, who are not a representative sample of the Indian population, is slightly above the national Indian Council of Medical Research Standards. In both sexes, mean heights are below the 10th centile line of the British standards from an early age onwards, mainly due to a smaller prepubertal growth. The adolescent growth spurt in the Indians similar to that seen in British children, as is the age at which it occurs (peak height velocity at 14.0 years in boys, 12.5 years in girls). The sex difference of 14.0 cm in adult stature is attributable to a greater adolescent gain in the boys of 6.0 cm, a greater height in boys at the girls' age at take-off of 3.3 cm and a gain in height by the boys of 4.7 cm between the girls' and boys' ages at take-off.

Adolescent↗

Degree of resemblance of the pattern of growth among sibs in families of West Bengal (India).

The Preece-Baines Model 1 curve has been fitted to longitudinal data on growth in height of 105 boys and girls in 70 Bengal families: 60 of these were sibs distributed in 25 families. For a number of growth characteristics, such as age at peak height velocity, the proportion of the total population variance that was due to variation between, as opposed to within, families was estimated by Smith's (1980) method. The proportions for age at take-off of the adolescent spurt, of age at PHV, and of PHV itself were 22%, 26% and 33% (where adult height gives a value of about 40%). The sample is small and these estimates have high standard errors and need confirmation.

Adolescent↗

Increase in length of leg relative to trunk in Japanese children and adults from 1957 to 1977: comparison with British and with Japanese Americans.

The secular trends in height, sitting height and leg length in Japanese children have been studied by fitting Preece-Baines Model I curves to the annual mean values from ages five to 17 of school data collected in 1957, 1967 and 1977. The method provides estimates of final adult value, and of age of maximum annual increment. Between 1957 and 1977 the maximal increments in height, sitting height and leg length all became earlier, by about a year in boys and a little less in girls. Japanese now mature about a year earlier than North Europeans. Adult height increased by 4.3 cm in boys and 2.7 cm in girls between 1957 and 1977, the increment being less in the second decade than in the first. Sitting height showed practically no increase whatever; almost the whole secular trend was due to change in leg length. Japanese now have trunk/leg proportions much more similar to those of North Europeans than was the case 20 years ago, but their adult height remains about one standard deviation lower.

Adolescent↗

The prediction of total body water using bioelectrical impedance in children and adolescents.

Total body water was measured in 26 children and adolescents using the stable isotope H2O18. Body resistance was measured using a tetrapolar technique with a constant 50Khz, 800 microA alternating current. Total body water was highly correlated (r = 0.97; P less than 0.001) with height2/body resistance. Measurements of body resistance are non-invasive, rapid and readily acceptable to children. For these reasons the measurement of body resistance requires further investigation, including cross validation studies and is a potentially valuable technique for assessing body composition in the paediatric population.

Adolescent↗

Creutzfeldt-Jakob disease: implications for growth hormone deficient children.

For over 25 years children with short stature due to growth hormone deficiency have been able to achieve normal height with the aid of human growth hormone (hGH) injections. Following reports of four deaths due to Creutzfeldt-Jakob disease (CJD) in young adults previously treated with hGH this treatment has ceased. There are major implications due to the potential risks of further cases of CJD and to the lack of a previously well-tried therapeutic substitute.

Child↗

Growth delay.

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Adolescent↗

Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families.

Previous studies have shown that individuals with a deletion of 15q26.1-->qter, which includes the insulin-like growth factor I receptor (IGFIR) gene, may exhibit phenotypic characteristics similar to those individuals with Silver-Russell Syndrome (SRS). Thirty-three SRS probands, with normal karyotypes, and their parents were investigated for the presence of both copies of IGFIR by gene dosage analysis of Southern blot hybridisation. All 33 SRS probands have both copies of IGFIR. Tetranucleotide repeat marker analysis for three locations on 15q also ruled out other deletions in these regions for those markers that were informative. Two important functional regions of IGFIR were also investigated for DNA mutations, using single-stranded conformational polymorphism analysis. No mutations were found in the cysteine-rich region involved in ligand binding (exon 3) or the ATP binding region (exon 16) which could contribute to the SRS phenotype. However, a silent mutation in the third position of one of the codons in the ATP region (3174G-->A, 1013 Glu-->Glu) was found.

Abnormalities, Multiple↗