Standardised monitoring of patients on long-term medication in primary care.

A three-year pilot study was initiated in collaboration with three general practices to develop a standardised monitoting (SM) system to ensure that chronically sick patients on long-term medication, such as thyroxine, diuretics angiotensin convening enzyme (ACE) inhibitors statins and antirheumatics were reliabily monitored following fixed protocols. A high standard of care was achieved, which included identifying and following up patients with borderline or unacceptable results and persistent non-attendees. In addition, the scheme guaranteed that a current set of results was provided in time for clinical review.

Abnormalities of carbohydrate metabolism and of OCT gene function in the Rett syndrome.

The pathogenetic basis of the Rett syndrome (RS) is unknown: an X-linked dominant, male-lethal gene defect is thought likely. We present a girl with RS who has defects both of the urea cycle and of carbohydrate metabolism resulting in fasting hypoglycaemia, post-prandial hyperlactataemia and excess urinary orotic acid excretion after alanine load. Her sister has a similar clinical picture, but less marked metabolic anomalies. The mother of these sisters has abnormal urinary orotic acid excretion; she transmitted opposite ornithine carbomoyltransferase (OCT) alleles to the two girls. Another girl with RS has similar metabolic responses to fasting and to carbohydrate load. We conclude that RS may be an aetiologically homogeneous condition, but that it includes a variable pattern of metabolic anomalies, and that the gene defect is distinct from the OCT locus.

Hormone studies in a case of virilisation due to ovarian tumour.

The investigation is described of a 62-year-old female patient who presented with severe virilisation; her plasma testosterone concentration was grossly elevated at 37.9 nmol/L. Measurement of plasma androstenedione, dehydroepiandrosterone (DHEA) and DHEA-sulphate, urinary 17-oxosteroids and urinary 'free' cortisol suggested an ovarian source of androgens. An ultrasound scan indicated the presence of an ovarian mass which was removed and classified as a Sertoli-Leydig cell tumour (arrhenoblastoma) combined with a mucinous cystadenoma. Following operation plasma testosterone levels returned to normal. The excessive pre-operative testosterone production appeared to have had little effect on the plasma level of SHBG, since levels remained similar before and after removal of the tumour. Serum LH and FSH levels were higher post-operatively.

Enzyme multiplied immunoassay of phenytoin and carbamazepine using the Centrifichem analyser.

Procedures for the enzyme multiplied immunoassay of phenytoin and carbamazepine using the Centrifichem centrifugal analyser are described. Within-batch, between-batch, and between-day precision are reported. Accuracy is assessed by recovery experiments. The technique is compared with gas-liquid chromatography in the analysis of a number of human serum samples containing a range of concentrations of the drugs.

Urinary pregnanetriol excretion in hirsutism.

Eighteen consecutive hirsute women attending an endocrine clinic have been studied by measurement of the urinary pregnanetriol excretion before and following the concurrent administration of corticotrophin and metyrapone. An abnormal increment in pregnanetriol excretion was observed in 11 of these 18 patients. It is suggested that this is evidence that an adrenal abnormality, probably operative at the 21-hydroxylase level, might be a factor responsible for the hirsutism in these 11 patients. Five adrenalectomized women who were also studied showed no significant increase in urinary pregnanetriol excretion in response to concurrent corticotrophin and metyrapone administration.

A long-term evaluation of the CentrifiChem centrifugal microanalyser during routine use in the clinical biochemistry laboratory.

The CentrifiChem centrifugal microanalyser (model 300) has been used routinely in this laboratory for two years. Its reliability for performing total bilirubin, aspartate aminotransferase alkaline phosphatase and gamma-glutamyl transferase analyses during this time is reported, using methods modified in a preliminary study. Accuracy of the analyses has been assessed by comparing the results with those from other analytical systems and by using commercial control sera. Determinations have been made for within-batch, between-day (20 days), and long term (100 weeks) precision. Other aspects evaluated were the range over which methods were linear and the cost of operation.

Application of a simple urinary 11-deoxy-17-oxosteroid assay to the study of adrenocortical function in a selected group of hirsute women.

Using a relatively simple 11-deoxy-17-oxosteroid assay a group of hirsute patients have been studied before and following the administration of ACTH. These patients were selected on the basis that each showed an exaggerated response of urinary testosterone excretion to ACTH stimulation. Fifteen of eighteen patients were found to show an exaggerated urinary 11-deoxy-17-oxosteroid response to ACTH stimulation in addition to the excessive urinary testosterone response, suggesting that dysfunction of the adrenal cortex might be a factor contributing to the hirsutism of these fifteen patients.