Fetal ascites: an unusual presentation of Niemann-Pick disease type C.
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Biomedical subjects
Publications and source records attributed to R G Pearse.
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An investigation is presented into the likely effects of the neonatal skull on impedance images produced by applied potential tomography (APT) by imaging impedance changes inside the skull of a human infant of occipito-frontal circumference 30 cm. Measurements have been made with the skull immersed in a tank of saline and electrodes fixed to the perimeter of the tank. Sensitivity measurements have been assessed for imaging a small target close to the centre of the skull as compared with images produced without the skull. The results obtained compare favourably with measurements on a more realistic model of the neonatal head constructed by filling the skull with agar jelly to leave only a thin exterior coating of jelly to simulate the scalp. These experiments suggest that in the central region of the head of a neonate, measured changes by the APT technique are about 44% of that expected from a homogeneous phantom, but that this might vary from 32% to 55% at different points in the image in a very complex manner.
The value of available growth curves for preterm infants is limited because they exclude infants of less than 28 weeks' gestation. We describe growth curves for weight, length, and head circumference for boys and girls of between 20 and 42 weeks' gestation.
Four infants, apparently thriving and without clinical evidence of disease, died suddenly at ages ranging from 2 to 6 months. Inclusions bearing cells pathognomonic of cytomegalovirus infection were shown microscopically in a small number of extraneural organs. In view of the lack of associated tissue destruction on microscopy and the apparent well being of the infants before death whether the function of these organs had been impaired to any important degree was questionable: such limited disease, consequently, could not have contributed substantially to the cause of death. The brainstem, on the other hand, consistently showed small numbers of glial nodules. Damage to strategically located neurones associated potentially with the organisation of vital function was a possible basis of sudden death. Alternatively, the small number of glial nodules may have represented a residue of previous more severe brainstem disease, which had possibly started while the baby was in the uterus.
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Data representing fetal weight gain between 14 and 42 weeks' gestation are presented; firstly to provide suitable curves enabling the growth of the very immature infant to be monitored and secondly to examine the influence of the improved techniques of paediatric and obstetric assessment developed since the publication of previous studies. Data have been collected from the 57 866 livebirths in Sheffield between 1976 and 1984 and from therapeutically terminated and spontaneously aborted fetuses over the same period. It seems that preterm livebirths do not form a different population with respect to weight from the fetus still in utero, at least until the beginning of the third trimester. Previous studies have reported a bimodality of weight distribution in preterm infants at each gestational age which has been attributed to errors in gestational assessment. The pattern of distribution of weight in this study suggests that early ultrasonography and paediatric assessment techniques have exerted a considerable influence on the accuracy of gestational assessment. The mean weights of the sample differ considerably from those of the Gairdner and Pearson chart which are, therefore, considered to be inappropriate for the Sheffield population.
Five preterm babies with the neonatal form of dystrophia myotonica are reported. In addition to the generally accepted signs and symptoms of the disease, two other features were present in these patients; oedema was notable in all 5 babies and 4 had unexplained haematomas. It is suggested that premature birth may be a result of severe involvement and that prematurity further aggravates the symptoms.
Idiopathic infantile arterial calcification is a disorder of unknown etiology manifested by widespread arterial calcification. This usually leads to early death from coronary artery occlusion. In 12 of the 75 cases in the literature, radiographs were taken and it was possible to make the diagnosis in them all. We present two patients, siblings, in whom the diagnosis was established radiologically. The nature of the calcium deposits was studied in one of the infants and proved to be calcium hydroxyapatite. Therapy with diphosphonate was apparently successful in the other child.
A technique for inserting radial artery catheters percutaneously in newborn babies using transillumination is described. Catheterisation was successful in 69% of the 107 babies in whom it was attempted. In the last 30 attempts there was an 85% success rate with an average useful life of 100 hours. The average weight of these babies was 1405 g, with a range of 620--4250 g. The method has several advantages over previous methods.
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Determination of serum cholesterol values in three populations of children and adolescents, totalling 4013 subjects aged 1 month to 20 years, revealed 16 cases of primary hyperbetalipoproteinemia (overall frequency, 1:251) and led to the detection of the disorder in 12 asymptomatic siblings. The upper limit of normal for serum cholesterol concentration was approximately 200 mg/dl at all ages studied. Dietary treatment was instituted in patients whose serum cholesterol value exceeded this limit and in whom a primary lipid defect was confirmed; the serum cholesterol value decreased in all patients who adhered to the diet. However, since the potential hazards and long-term results of dietary treatment, with or without drug therapy, in growing children are not known, such treatment should be reserved for affected children with a family history of premature atherosclerosis, and follow-up is essential.
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