Small bowel injury in gastroschisis: relation to fetal presentation.
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Biomedical subjects
Publications and source records attributed to D J Lloyd.
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Clinical features and histological findings in two sibs who died from restrictive dermopathy in the neonatal period are described. Fibroblasts cultured from a skin biopsy from the second sib and fibroblasts from normal neonatal skin were studied using monoclonal antibodies to visualise integrin subunits by immunocytochemistry. Restrictive dermopathy fibroblasts displayed increased expression of the alpha-1 and alpha-2 subunits of integrin, those responsible for collagen binding. The increase was not matrix dependent. Integrins may play an important role in tissue differentiation, and our findings support the hypothesis that restrictive dermopathy is a disorder of skin differentiation.
A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these cases.
Erythrocyte superoxide dismutase (ESOD) activity reflects copper utilization and the risk of copper deficiency. To investigate the possible effects of inorganic iron on the metabolism of copper in low birth weight infants, we have measured ESOD activities in three groups of infants receiving different iron supplements. Fifty-five low birth weight infants were randomly assigned to receive daily from 28 d either 13.8 mg (HiFe), 7 mg (MidFe), or no elemental iron (NatFe) as iron edetate. At 27 d, 8, 12, and 20 wk postnatal age, infants were weighed and measured and hematologic indices, plasma ferritin, zinc, and copper concentrations, and ESOD activities were assayed. Anthropometrical and hematologic indices and plasma copper and zinc concentrations did not differ among treatment groups at any time, but at 20 wk, plasma ferritin concentrations [(micrograms/L) mean; SD] were lower in the NatFe group (17; 2.0) than in the HiFe group (32; 1.9: 95% confidence interval for mean difference 6.6 to 22.0, p less than 0.01). ESOD activities (U/g Hb) were similar in HiFe (1447; 263), MidFe (1552; 322), and NatFe (1538; 382) groups at 27 d, but by 20 wk activities in the HiFe group (1537; 211) were lower than in the MidFe (1789; 403: 95% confidence interval 38 to 466, p less than 0.05) and NatFe (1858; 304: 95% confidence interval 150 to 492, p less than 0.01) groups. The lower ESOD activities found in the HiFe group at 20 wk may reflect altered copper metabolism induced by the iron supplement, but the clinical importance of this observation is unknown.
The effect of ascorbic acid (AA) [284 mumol (50 mg) twice daily] on the net intestinal absorption and maximum apparent retention of Fe, Cu, and Zn was investigated by metabolic balance studies in a randomised crossover study of six low-birth-weight (LBW) neonates fed a cows'-milk-based formula containing (mumol/L) Fe, 126; Cu, 11; Zn, 87; and AA, 400. Absorption +/- SD (Fe, -5.0 +/- 7.5; Cu, 0 +/- 0.4; Zn, -0.8 +/- 3.4) (mumol kg-1 day-1) was not altered by AA (Fe, -4.1 +/- 4.6; Cu, 0.3 +/- 0.6; Zn, -1.1 +/- 2.7) neither was retention (without AA: Fe, -6.0 +/- 8.4; Cu, -0.1 +/- 0.3; Zn, -2.4 +/- 4.2; with AA: Fe, -4.9 +/- 4.7; Cu, 0.1 +/- 0.6; and Zn, -2.7 +/- 3.1). Supplements of AA administered as in the circumstances of routine care of LBW neonates do not enhance the absorption and retention of Fe, nor do they impair these aspects of the metabolism of Cu and Zn.
Hydrolysed yeast protein labelled with 15N was used to measure protein turnover, protein synthesis and protein breakdown in preterm infants. The yeast tracer was given as a bolus intragastric dose and protein turnover was determined from the 15N enrichment of urinary ammonia over known periods of about 12 h. Six boys (birthweight less than 1500 g) with gestation of 27-35 weeks were studied either two or three times at post-natal ages ranging from 13 to 54 d. There was no significant correlation between protein turnover with increasing post-conceptional or post-natal age. There was considerable interindividual variation and reproducibility varied between different infants. We suggest that this is a convenient non-invasive technique for monitoring serially nitrogen and protein metabolism in infants and that as such it merits further assessment.
A survey of 57 neonatal units in the United Kingdom showed considerable disparity in iron supplementation policies for preterm low birthweight infants.
We describe a case of neonatal argininosuccinic aciduria, a condition we suggest is underdiagnosed. Although the clinical presentation can be of overwhelming septicaemia, certain routine biochemical investigations are indicative of this inborn error of urea cycle metabolism.
Nitrogen flux and protein synthesis and degradation were estimated using a single oral bolus of 15N glycine or 15N yeast protein hydrolysate and measuring the 15N enrichment of urinary ammonia in five low birth wt infants fed a low birth wt formula and in six who were receiving their own mother's breast milk. Results derived from using 15N-glycine and 15N-yeast hydrolysate tracers in a randomized crossover study in 10 studies on seven infants showed, with one exception, higher turnover rates and more interindividual variation with the 15N yeast. Both tracers showed good reproducibility in two infants who had repeated studies. Although wt gain was similar in both groups, nitrogen intake and retention were greater (p less than 0.01) in the formula-fed group. Mean nitrogen turnover was similar in both groups, but there was a greater variance in the human milk-fed group which also had a greater nitrogen turnover/U absorbed nitrogen (p less than 0.025) and a lower excretion of nitrogen/U flux.
A method to assess the average percentage of fetal fat with respect to other fetal tissue is described. This method was then used to assess the percentage of fat in 13 normal fetuses who had a magnetic resonance imaging (MRI) examination late in pregnancy (38-41 weeks). The scans of a further 13 fetuses of diabetic mothers and one case of intrauterine growth retardation (IUGR), all of whom had MRI examinations in the last 3 years, were reviewed and similar calculations were carried out. Whilst the percentage fat range in the normal group was large, it was still possible to discern a difference between the normal, diabetic and IUGR cases.
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Ninety-two cases of necrotizing enterocolitis (NEC) were diagnosed in the Grampian Region of Scotland between 1978 and 1984, for a regional incidence of 2.2/1,000 live births. Twenty-seven cases (29.3%) required surgery, 19 acutely and eight for delayed stricture. Acute operative mortality was 10.5%. Disease-related mortality was 3.3%, and overall mortality was 8.7%. Follow-up ranged from 15 to 77 months for surgical patients, with only three of 23 survivors having increased bowel frequency.
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Twenty five infants who were small for gestational age received glucagon (0.5 mg/day by continuous infusion) in the treatment of hypoglycaemia. Twenty responded within three hours with a rise in blood glucose concentration to above 4 mmol/l. Five subjects subsequently required hydrocortisone to maintain glucose concentrations. Rebound hypoglycaemia occurred in nine infants after rapid discontinuation of glucagon or interruption of the intravenous infusions. Response was poor after maternal beta blockade.
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It has been common practice in the United Kingdom for more than 30 years to classify perinatal deaths according to the maternal condition that initiated the events that led to death. However, such an approach tends to ignore the baby as an individual in his or her own right. The need for an additional classification that identifies the pathological processes occurring in the baby in every perinatal death has long been recognized, and the classification adopted in the 1958 British Perinatal Mortality Survey has now been revised with this need in mind.