Hereditary spastic paraplegia and Evans's syndrome.

Two brothers with hereditary spastic paraplegia and Evans's syndrome are recorded. Rapid deterioration of functional motor ability followed the development of Evans's syndrome.

Management and follow-up of harlequin siblings.

Harlequin fetus is a rare clinical entity, and survival of affected infants beyond the first year of life is uncommon. Management involves intensive care of the skin and eyes, close monitoring of fluid and electrolyte status, constant support and counselling of parents, and surveillance against infection and side-effects of medication. A well-coordinated multidisciplinary approach can prolong survival beyond the neonatal period. We report our experiences in the management and follow-up of two successive harlequin siblings.

A simple approach to improving sensitivity in a one-step monoclonal antibody-based ELISA for human IIbIIIa using multiple conjugates.

This paper describes an approach which can be used to increase both the speed and the sensitivity of a monoclonal antibody (MAb) based ELISA for human IIbIIIa by using a mixture of enzyme labeled MAbs (conjugates) and a one step incubation format (where analyte and conjugates were incubated simultaneously for 2 h in the MAb coated well). A simple competitive blocking method is described for mapping the relative epitopes of five monoclonal antibodies (MAbs) with minimum preparation of enzyme conjugate. This method permits the selection of three MAbs which recognize distinctly different epitopes, and are suitable for use in a one step ELISA format. Compared to the regular two step ELISA using two MAbs, this simple modification improves the assay sensitivity by three-fold and decreases the incubation time by 75%, while maintaining a high level of precision (2-15%). The assay is very specific and can accurately measure both recombinant and native IIbIIIa.

Value of ultrasound in differentiating causes of persistent vomiting in infants.

A prospective study of abdominal ultrasound was undertaken in 100 consecutive infants who presented with a history of persistent vomiting aged 5 to 90 days. Each infant had a 'test feed' followed by an ultrasonographic scan of the pylorus at the cotside. On test feeding a palpable tumour was evident in 38 infants. On real time ultrasound using the criteria for diagnosing pyloric stenosis, these 38 infants as well as six others were documented as having pyloric stenosis. In the other 56 patients the vomiting settled in six and a barium examination was performed on the remaining 50. This confirmed gastro-oesophageal reflux in 46, two of whom had an associated hiatus hernia, one with a duodenal malrotation, and three were reported as normal. Ultrasound of the abdomen is an accurate, reliable, and rapid screening method to differentiate the causes of severe vomiting in infancy.

Cytogenetic investigations in a family with ataxia telangiectasia.

Cytogenetic findings on a family with ataxia telangiectasia (A-T) in which three of four sibs were affected are described. The affected individuals had approximately twice the level of spontaneous chromosome breakage of a normal control, while the parents and the normal sib had no significant increase. Lymphocytes from all three A-T homozygotes showed specific stable chromosomal rearrangements involving chromosomes 7 and 14. All of these abnormalities involved breakage at the usual four sites associated with A-T (7p14, 7q35, 14q12, and 14q32). Two rearrangements detected in the eldest and most severely affected patient were clones, one of which [t(14;14)(p11;q12)] is not commonly found in A-T cells. No chromosomal rearrangements were encountered in lymphocytes from the control, the parents, or the normal sib. Lymphocytes from the A-T patients also were found to be 7-11 times more sensitive to the induction of chromatid aberrations by X-irradiation than control cells. Lymphocytes from the parents and normal sib showed a moderately increased frequency of X-ray induced aberrations compared with that of the control.

Pyloric stenosis: congenital or acquired?

Pyloric muscle dimensions were measured in 1400 consecutive newborn infants. Nine of these subsequently developed pyloric stenosis. Their pyloric measurements at birth were all within the normal range. Congenital preformed muscular hypertrophy does not appear to be present in babies who later develop pyloric stenosis.