p53 gene alterations in special types of breast carcinoma: a molecular and immunohistochemical study in archival material.

The p53 locus on the short arm of chromosome 17 at 17p13.1 was examined for small genomic deletions and mutations in 23 formalin-fixed, paraffin-embedded cases of special types of breast carcinoma (six medullary, seven apocrine, five differentiated tubular, and five papillary). p53 mutations in the evolutionarily conserved exons 5-9 were detected in 11 cases (four apocrine, two papillary, two medullary, and three differentiated tubular), using the novel non-radioactive PCR-based Hydrolink mutation detection enhancement (MDE) method, and confirmed by direct sequencing of the PCR products.

Quality assessment of urinary organic acid analysis.

The number of known inherited metabolic disorders resulting in an organic aciduria has increased steadily over the past two decades. Prompt and reliable detection is both clinically and technically demanding but is essential if appropriate treatment is to be undertaken. This is the first study of laboratory performance in the detection of these disorders to be undertaken in the UK.

Vitreous humour and cerebrospinal fluid hypoxanthine concentration as a marker of pre-mortem hypoxia in SIDS.

Aims: To assess the rate at which premortem hypoxia occurs in sudden infant death syndrome (SIDS) when compared with death in early childhood.

Methods: The hypoxanthine concentration was measured as a marker of premortem hypoxia in vitreous humour and cerebrospinal fluid samples obtained at necropsy from 119 children whose ages ranged from 1 week to 2 years.

Results: Increasing interval between death and necropsy was accompanied by an increase in the hypoxanthine concentration of vitreous humour for the first 24 hours, at a rate of 8.

Screening tests for glycosaminoglycans in urine: experience from regional interlaboratory surveys.

Three urine samples were distributed to laboratories in the Trent and Yorkshire regions to assess their ability to detect glycosaminoglycans. Satisfactory results were obtained for samples from patients with Hunter's and Morquio's diseases but six of 14 laboratories reporting a result for a Sanfilippo sample missed the abnormality. Replies to a subsequent questionnaire showed that unsuccessful laboratories were not using recommended screening methods, that they lacked experience in testing for these diseases, and that rationalisation of such screening services may be indicated.

Selenium depletion and its correction in a child with homocystinuria.

A child of 10 months with proven homocystinuria was found to be selenium depleted and we report the serial monitoring of replacement therapy. Selenium, as an enriched yeast preparation, equivalent to 50 mug on alternate days was required for maintenance. Indices of selenium status returned to normal in varying times.

The routine investigation of urinary organic acids in selected paediatric patients: results over a 2 1/2-year period.

Over a 2 1/2-year period 13 patients with inborn errors of organic acid metabolism, excluding undifferentiated lactic acidosis, have been diagnosed in our laboratories. The diagnostic yield in patients who had not previously been investigated by organic acid chromatography was 1 in 25, the majority of cases having presented with metabolic acidosis. A larger number of non-specific abnormalities were also detected.

Further experience with computer-assisted diagnosis of diseases of the liver and biliary tree.

Computer-assisted classification of disease has largely relied upon testing the diagnostic algorithm in the same population from which it was originally derived, as a means of validation. To evaluate the accuracy of a diagnostic program in which discriminant function analysis is used, we applied it to a separate population, selected by different criteria from those used to define the original case material on which the diagnostic program was based. We selected a group of 315 patients having abnormal values for alkaline phosphatase, bilirubin, or aspartate aminotransferase for further biochemical and immunological investigations.

Lack of value of serum gamma-glutamyl transferase in the diagnosis of hepatobiliary disease.

Serum gamma-glutamyl transferase (GGT, EC. 2.3.

Hypernatraemia and uraemia in unexpected death in infancy.

The electrolyte concentration of the vitreous humour of the eye in a consecutive series of 40 infants dying unexpectedly at home was measured. In 25 of these infants no morbid anatomical cause of death was found, but in half of these infants analysis of the vitreous humour indicated the presence of hypernatraemia, either with or without uraemia. High solute feeding and water deficiency could therefore have been a major factor in the death of these infants.

Biochemical state of the vitreous humour of infants at necropsy.

Biochemical analysis of the vitreous humour in 80 infants brought to necropsy, including 18 in whom terminal plasma levels were known, indicates that sodium and urea levels closely reflect ante-mortem plasma values. With increasing time, post-mortem vitreous sodium and glucose concentrations diminish, whereas urea and magnesium rise. Vitreous magnesium levels are age related.