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Biomedical subjects

G Rylance

Publications and source records attributed to G Rylance.

At least 37 records · Page 2Linked to original sources
PubMed1996

Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet.

The optimal dietary management of children with phenylketonuria (PKU) has rarely been rigorously explored. The aim of this study was to assess longitudinally the effects of three factors thought to influence plasma phenylalanine concentrations in PKU: total energy intake; protein intake from natural foods allowed freely in addition to allocated phenylalanine exchanges; and the distribution of protein substitute throughout the day. Nineteen subjects, 15 girls and four boys aged 1-16 years, were enrolled. Food intake was weighed, and twice daily plasma phenylalanine concentrations measured during either 3-day or 4-day periods, for a total of 21 days throughout six months. There was a negative correlation between the percentage of protein substitute eaten by the time of the evening meal and the fall in plasma phenylalanine concentration during the day (r = -0.941; p < 0.0001). On average, 49% of pre-evening meal plasma phenylalanine concentrations were less than 100 mumol/l in children who had taken at least 65% of their protein substitute by the time of their evening meal. There was no correlation between excess natural protein intake from freely allowed foods and (a) pre-breakfast or pre-evening meal plasma phenylalanine concentrations or (b) the daily change between pre-breakfast and pre-evening meal concentrations. Nor was there any correlation between excess natural protein intake on the previous day and plasma phenylalanine concentration on the following morning. Energy intake was not correlated with plasma phenylalanine concentrations. It is therefore preferable to distribute the protein substitute evenly through the day in order to achieve stable phenylalanine concentrations, rather than to carry out further fine manipulation of the phenylalanine intake, which would make management of the diet even more difficult.

Adolescent↗
PubMed1992

Should audio recordings of outpatient consultations be presented to patients?

Three hundred and four new and return paediatric outpatient consultations were tape recorded. Questionnaires (and tapes) relating to the experience were returned from 286 families. They showed that tapes had been helpful to more than 99% of parents and grandparents. The main benefits were in refreshing the memories of those who attended the consultation and in helping the understanding of those unable to attend. More than 70% of tapes were listened to more than once and a third of families made a copy. Most parents considered that all consultations should be taped.

Adult↗
PubMed1990

Neurological deterioration in young adults with phenylketonuria.

7 patients with phenylketonuria who developed neurological disability in adolescence or early adult life are described. 4 had been diagnosed by routine neonatal screening and started a low phenylalanine diet in infancy. 3 were diagnosed in early childhood because of developmental delay, and then started dietary treatment. Dietary control deteriorated in later years and was withdrawn in mid to late childhood. The late neurological deterioration cannot be directly ascribed to poor compliance with or cessation of dietary treatment in this small, retrospective study--but other likely causes have been excluded and 2 patients showed a striking clinical improvement when a strict diet was resumed. Serial magnetic resonance images from one of these patients show abnormalities that appeared after cessation of dietary treatment and resolved after diet was resumed. If these findings are confirmed, strict dietary control into adult life would be indicated for at least some patients with phenylketonuria.

Adult↗
PubMed1990

Juvenile granulosa cell tumor.

A 2-year-old girl presented with isosexual precocity, and a juvenile granulosa cell tumor of the left ovary was removed. The tumor was unusual in that striated muscle differentiation of the tumor cells was demonstrated. This suggests that the mesenchymal cells retain the potential for divergent differentiation.

Child, Preschool↗
PubMed1989

Outcome of early detected and early treated phenylketonuria patients.

Data from the US PKU Collaborative Study are reviewed and compared with data from UK and the rest of Europe in order to assess the outcome of dietary management. Early treated phenylketonuria (PKU) children have a good outcome. However, to achieve this the diet needs to be fairly strict for at least the first 10 years of life and perhaps should be maintained for a long period subsequently. Lifelong dietary management may be beneficial. PKU individuals in general have slightly lower IQ than their normal siblings and there is a greater tendency to display difficulty in mathematics and conceptual thinking.

Child↗