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Biomedical subjects

R MacFaul

Publications and source records attributed to R MacFaul.

33 records · Page 2Linked to original sources
PubMed1992

Paediatric outpatient utilisation in a district general hospital.

Paediatric outpatient utilisation in a district general hospital was studied for 20 general practices that covered a population of 26,433 children. The actions taken by paediatric staff were analysed for 487 new referrals and 2784 review attendances (the latter in 1630 children) over an eight month period. New referral rates from different general practices varied between 3.7 per thousand children 0 to 15 years and 29.6 with a mean of 13.7, equivalent to 19 per thousand per year. (The national mean based on health district populations is 21.2 per year.) A total of 63% of new referrals and 49% of review patients were aged under 5 years. Over the study period 2.2% of children under 5 years in the population were referred as a new patient, equivalent to 3.1% per year, and 1.3% of children aged 0 to 15 years were referred, equivalent to 1.8% per year. Review attendances on one or more occasion occurred in 6.5% of children under 5 years over the study period, equivalent to 9.2% per year, and for age 0 to 15 years, 4.8% attended once or more times over the study period, equivalent to 6.7% per year. The review attendance rate per thousand child population per practice varied between 59 and 160 with a mean of 81.9. New patients formed 14.8% of the total attendances (the national mean is 18.3%). Review attendance rates were significantly lower when the general practice was large. Socioeconomic factors suggested by a high proportion of children in the general practice list were associated with a high review attendance rate. Altogether 27.0% of new referrals were seen once only and 32.8% had no tests done. The most common reason for attendance was asthma (11% of new and 19% of review patients). The second commonest was for fits (8.4% of new referrals and 4.7% of review patient attendances).

Adolescent↗
PubMed1991

Major problems with paediatric bed usage statistics?

This study was carried out on the way in which children's beds were used by the specialty of paediatrics in a district general hospital. Five differing ways were found of interpreting the present Department of Health guidelines on health services information (Körner recommendations). These gave bed occupancy figures varying between 73% and 106%; throughput figures varying between 23.8 and 34.7 discharges per bed; and turnover interval varying between -0.17 and 1.1 days for the same group of paediatric admissions. For comparisons of efficiency and costs between hospitals, which are based upon bed utilisation statistics, it is essential that there is standardisation of method of analysis.

Bed Occupancy↗
PubMed1985

Duration of admission for febrile convulsions?

Records of 199 children aged 5 to 71 months (mean 22.8) admitted after febrile convulsion were examined. Although 32 had recurrent convulsions (some before admission) none suffered a convulsion more than 24 hours after hospital admission.

Child, Preschool↗
PubMed1983

Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.

The red-cell concentrations of galactose-1-phosphate and uridine diphosphate galactose have been studied in relation to dietary galactose in a case of uridine diphosphate galactose-4-epimerase deficiency (McKusick 23035). Uridine diphosphate galactose accumulates rapidly in response to very small amounts of galactose but the concentration of galactose-1-phosphate increases proportionately to galactose intake. The significance of the observation is discussed with respect to the pathogenesis and treatment of the disease.

Biotransformation↗
PubMed1982

Metachromatic leucodystrophy: review of 38 cases.

Clinical and laboratory features of 38 children suffering from metachromatic leucodystrophy (MLD) are reported. Twenty-four children with the late infantile form of MLD presented between ages 6 and 25 (mean 17) months with a delay or deterioration in walking, followed by a general loss of abilities. There was severe handicap by age 3 years and death occurred between 5 months and 8 years after presentation. Neurological signs at the time of diagnosis were varied. Motor nerve conduction velocity was slowed in the 18 children tested. The disease became evident at a later age in 14 children. One boy presented at 13 years, while in the remainder there appeared to be two clinical patterns of the disease which could be termed (1) early juvenile or intermediate and (2) juvenile MLD. In 7 children with early juvenile or intermediate MLD a gait disorder developed between ages 4 and 6 (mean 5) years. This was accompanied in 4 children, and followed between 8 and 26 months later in the remaining 3, by loss of other abilities. Neurological signs were varied. Motor nerve conduction velocity was slowed in 2 of the 5 patients tested. Six children with juvenile MLD presented between ages 6 and 10 years with educational or behavioural difficulties. Motor disorders arose from 6 months to 4 years later. Neurological signs at the time of diagnosis, although mixed, were predominantly extrapyramidal and motor nerve conduction velocity was slowed in 2 of the 3 children tested. In the early juvenile form of MLD, progression of the disease was slower than in the late infantile form and death occurred between 31/2 and 18 years after presentation. Only one-third of patients had fits and these tended to be a late feature.

Child↗
PubMed1981

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.

A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction modified the acute clinical and biochemical abnormality, but it appears essential to include some galactose in the diet in this condition to allow synthesis of galactosides, including the brain gangliosides.

Carbohydrate Epimerases↗
PubMed1981

Down's/Turner's mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality.

Two babies with Down's/Turner's mosaic karyotype are reported. In each, because of advanced maternal age, chromosomal analysis had been carried out on the fluid obtained by amniocentesis in early pregnancy. Only the 46,X+ 21 cell line grew in the specimens and the extra 21 chromosome was wrongly identified as a Y chromosome, so that the fetus was thought to have a normal male karyotype, 46,XY. At birth both babies were phenotypically female with features predominantly of Down's syndrome and the correct karyotype was then identified. Twenty cases of this rare chromosomal abnormality are reviewed and one other living child who had been similarly wrongly diagnosed is reported.

Aneuploidy↗
PubMed1978

Clinical study of prolonged jaundice in breast- and bottle-fed babies.

A study of 893 births was undertaken to determine the incidence of prolonged neonatal jaundice. 55% of these babies were breast feeding on discharge from the maternity hospital. Jaundice lasting for 3 weeks or more was found in 12 breast-fed term babies (2-4% of all breast-fed babies), and in no bottle-fed infant. 3 of the jaundiced babies gained weight poorly in the first 3 weeks of life, but after that age failure to thrive was not associated with the prolonged jaundice. The hyperbilirubinaemia, which persisted in 11 infants from between 21 to 80 days (mean 39 days), was due to elevations in both conjugated and unconjugated fractions.

Bottle Feeding↗