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Biomedical subjects

P J Smail

Publications and source records attributed to P J Smail.

At least 19 recordsLinked to original sources
PubMed1997

Variable effect of growth hormone on growth and final adult height in Scottish patients with Turner's syndrome.

The aim of this work was to assess the outcome of recombinant growth hormone (rGH) therapy in a large unselected group (72) of patients with Turner's syndrome (TS), 26 of whom have reached final height. Growth data were collected from Scottish patients with TS and outcome was assessed in three ways: response to therapy in the first year, response in subsequent years and final height. Phenotypic, auxological, genetic and biochemical factors, all of which may have affected the first-year response, were investigated. Fifty-one percent of the cohort had a clinically "good" first-year response to therapy and 49% had a "poor" response, a "good" response was defined as a change in the TS standard deviation score (SDS) of +0.5 or more and a "poor" response as a change in the TS SDS of less than +0.5. The percentage of children showing a positive change in TS SDS after 2, 3 and 4 years of therapy declined (88%, 78%, 41%). Mean (range) final height was 142.6 (133.4-153.6) cm, mean (range) pretreatment TS SDS was -0.27 (-2.1 to +1.09) and mean (range) final TS SDS was -0.05 (-1.4 to +1.59). Thirteen (50%) patients attained a final height that was greater than projected, eleven did not attain their projected final height and two achieved their exact projected final height. Short girls with TS appear to benefit more from rGH supplementation than tall girls, but otherwise there was no significant correlation between any of the parameters studied and the response to treatment. It is concluded that large-scale prospective studies are still required to assess the impact of rGH on final height in TS and to identify factors responsible for the variability in response.

Adolescent↗
PubMed1997

Rising incidence of type 1 diabetes in Scottish children, 1984-93. The Scottish Study Group for the Care of Young Diabetics.

OBJECTIVES: To calculate the incidence of type 1 diabetes in Scottish children aged less than 15 years between 1984 and 1993; to examine changes in incidence; and to calculate the prevalence of diabetes at the end of this period. DESIGN: Three data sources were used to construct the Scottish Study Group for the Care of Young Diabetics register: active reporting of all new cases; reports from the Scottish Morbidity Register 1; and local registers. SUBJECTS: All children resident in Scotland diagnosed with primary insulin dependent diabetes mellitus when less than 15 years of age between 1984 and 1993. MAIN OUTCOME MEASURES: Annual incidence and prevalence rate for Scotland; time trend in incidence over the 10 years; differences in incidence between the three different age groups; and completeness of the register. RESULTS: The average annual incidence for Scotland was 23.9/100,000 children. The prevalence rate was 1.5/1000 in 1993. A total of 2326 cases was identified from the three sources. Capture-recapture analysis suggests a case ascertainment of 98.6%. The annual incidence rates increased at a rate of 2% each year (rate ratio = 1.02, 95% confidence interval (CI) 1.01 to 1.03). The incidence was higher in boys than girls (rate ratio = 1.08, 95% CI 1.00 to 1.18), and the incidence rates increased with age: 15.3/100,000/year for age 0-4 years, 24.4/ 100,000/year for age 5-9 years, and 31.9/ 100,000/year for age 10-14 years. CONCLUSIONS: The incidence of type 1 diabetes in Scotland is increasing and the prevalence is relatively high. These findings have important implications for health service resource allocation. The Scottish Study Group for the Care of Young Diabetics' register provides a base for monitoring and research.

Adolescent↗
PubMed1994

Possible role of imprinting in the Turner phenotype.

We have attempted to investigate the role of imprinting in the phenotype of Turner's syndrome. Sixty-three patients were investigated for parental origin of the retained normal X chromosome; 43 were found to retain the maternal X (XM) and 20 the paternal (XP). The relationship between a child's pretreatment height centile and parental height centiles was examined in 36 patients. No significant correlation was found between child and parental height centiles for XP or child and paternal height centiles for XM (p > 0.05) but a strong correlation was found between child's height centile and maternal height centile (p < 0.01) for XM. Using pooled data from this and other studies there was no significant correlation with renal anomalies but a strong correlation between cardiovascular abnormalities and XM (0.01 > p > 0.001) and neck webbing and XM (p < 0.05). We conclude that imprinting may play a part in the Turner's syndrome phenotype, especially with respect to pretreatment height, cardiovascular anomalies, and neck webbing.

Female↗
PubMed1993

Effects of high doses of inhaled corticosteroids on adrenal function in children with severe persistent asthma.

BACKGROUND: Childhood asthma generally responds well to inhaled corticosteroids within the dosage range recommended by the manufacturers, but it is sometimes necessary to use higher doses--that is, above 400 micrograms/day--a practice which has become more widespread recently. Whereas the lack of adrenal suppression in children given inhaled corticosteroids in normal doses is well documented, little is known about the effects of higher doses. METHODS: The effects on adrenal function of high dose (above 400 micrograms/day) inhaled corticosteroids were evaluated by measuring cortisol concentration in the morning and performing a short tetracosactrin test in 49 children taking budesonide (mean age 9.2 years (range 4 to 16 years) and 28 children taking beclomethasone dipropionate (10.2 years (5 to 13 years)). Twenty three non-asthmatic children (8.9 years (4.9 to 13 years)) who were under investigation for short stature served as controls for the study. RESULTS: Compared with controls mean basal cortisol concentration was lower in children taking budesonide and beclomethasone dipropionate (control 401 (26.8) nmol/l, budesonide 284 (22) nmol/l, beclomethasone dipropionate 279 (23.2) nmol/l). Sixteen of the 49 children taking budesonide had subnormal basal cortisol concentrations compared with seven of the 28 taking beclomethasone dipropionate. Mean stimulated cortisol concentrations were lower in children taking inhaled corticosteroids than in controls, with no difference between those taking budesonide or beclomethasone dipropionate. CONCLUSIONS: Adrenal suppression occurs in some children who are given inhaled corticosteroids in doses greater than 400 micrograms/day. It may therefore be advisable to try alternative treatments before such doses are used.

Administration, Inhalation↗
PubMed1991

Haemolytic uraemic syndrome in the defined population of northeast of Scotland.

Twenty seven cases of haemolytic-uraemic syndrome (HUS) were admitted to the Royal Aberdeen Children's Hospital between 1978 and 1989. All cases were from the defined childhood population of the Grampian region of Northeast of Scotland. Thirteen cases were admitted during the 2-year period 1987-1988 (Group 1). Of the 13 cases, 9 (Group 1 a) were admitted within the 11-month period between August 1987 and June 1988, and were from a small area (7 miles radius) within and around the City of Aberdeen. Their mean age was 7.1 years. Twelve cases of HUS were admitted between 1978 and 1986 and 2 cases were admitted in 1989 (total 14 cases; Group 2). Mean age was 3.0 years with no geographical clustering. The average annual incidence for group 2 was 1.25 per 100,000 children 0-16 years old.

Adolescent↗
PubMed1988

The incidence of childhood diabetes in certain parts of Scotland.

The incidence of diabetes in children under 12 years of age has been studied in three regions of Scotland from 1976 to 1986. These areas represent more than half of the Scottish population of that age group. The overall annual incidence is 17.6 per 100,000, ranging from 16.8 in densely populated areas to 23.4 in more rural areas. Earlier studies have concerned the age group 0-18 years so the present results from a younger age group are, as expected, slightly lower but show the same trends. After a rise to 1983 there appears to have been a drop, but not in all areas. The danger of drawing conclusions from areas of low population or from short periods of time is stressed.

Adolescent↗
PubMed1985

Pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency.

We describe an 8-year-old boy with pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency, an association not previously reported. Although absolute oestrogen levels were not higher than previously described in 21-hydroxylase deficiency, the gynaecomastia may have arisen through a relative disproportion of the C18 to C19 steroids.

Adrenocorticotropic Hormone↗
PubMed1984

Exercise test for growth hormone deficiency.

An exercise test measuring energy expenditure was performed on a bicycle ergometer by 98 patients in the outpatient clinic. Results concordant with the final diagnosis were obtained in 89% of the 75 children referred because of short stature and in 65% of the 23 children with associated chronic disorders.

Adolescent↗
PubMed1983

Effects of ACTH and estradiol on steroid production by cultured adrenal cells from an anencephalic fetus and from normal adults.

Dispersed adrenal cells from a 16 1/2 week anencephalic fetus, 7 fetuses with intact pituitaries and 3 adult subjects undergoing renal transplants were maintained in tissue culture and the steroidogenic responses to ACTH (0-10(3) pg/ml), with or without added estradiol (0-10(4) ng/ml) were evaluated. In the anencephalic preparation the response to ACTH was delayed, but by the fifth day production of cortisol, dehydroepiandrosterone (DHA) and DHA-sulfate was similar to that in the other cultured fetal adrenal cells. The addition of estradiol caused dose-related inhibition of cortisol production and concomitant increase in DHA and DHA-sulfate production. The adult adrenal cells in the presence of ACTH showed a much higher cortisol/DHA secretion ratio, but the addition of estradiol markedly reduced this ratio as in fetal cells. The data support the suggestion that the major factors which interact to impose the characteristic fetal pattern of adrenal steroidogenesis are ACTH and the synergistic effects of placental and intra-adrenal steroids (such as estradiol) which act to inhibit 3 beta-hydroxysteroid dehydrogenase activity.

Adrenal Cortex Hormones↗
PubMed1982

Further studies on adrenarche in nonhuman primates.

Serum concentrations of dehydroepiandrosterone (DHA), DHA sulfate, and cortisol were measured in 52 chimpanzees (aged 0.5--10 yr), 76 Macaca mulatta (aged 0.25--5 yr), and 80 Macaca nemestrina (aged 0.5--9 yr). Sexual maturation was assessed by age and by the presence of menarche or the appearance of perineal turgescence in the females and by measurement of serum testosterone in the males. In an additional group of 10 young adult female M. mulatta, four repeated determinations of these same steroids at 30-min intervals demonstrated that the stress of capture and venipuncture caused a significant rise in serum levels of not only cortisol but also of DHA and DHA sulfate. The chimpanzees demonstrated an age-related rise in serum concentrations of DHA and DHA sulfate relative to cortisol which began before the onset of puberty and thus closely resembled human adrenarche. In M. mulatta, serum DHA levels showed no change with age, while DHA sulfate values decreased progressively both before and during puberty. The pattern in M. nemestrina was similar, with stable DHA and declining DHA sulfate levels before and during puberty. However, in the oldest group (aged 6--9 yr) of mature M. nemestrina, there was a significant postpubertal rise of both DHA and DHA sulfate with no change in serum cortisol. These data suggest that monkeys, just as higher primates, may show increasing adrenal secretion of C19 steroids at around 6--9 yr. This adrenarchal process appears to be completely independent of sexual maturation and probably merely reflects the influence of progressive adrenal growth and the resulting impact of changing intraadrenal steroid concentrations upon steroidogenesis in the zona reticularis.

Adrenal Glands↗