An improved method for the determination of acetylcholinesterase activity in rectal biopsy tissue from patients with Hirschsprung's disease.

A method is described for the assay of acetylcholinesterase in tissue samples using the selective cholinesterase inhibitor, lysivane (10-(alpha-diethylaminopropyl) phenothiazine hydrochloride). Significantly increased enzyme activity is found in rectal biopsy specimens from patients with Hirschsprung's disease (p less than 0.001) indicating the diagnostic usefulness of the assay.

Molecular forms of acetylcholinesterase in Hirschsprung's disease.

We describe changes in the levels of different molecular forms of acetylcholinesterase in four cases of Hirschsprung's disease linked to the transition from aganglionic to normal bowel. In addition changes in a control case with histologically normal bowel is reported. In all patients with Hirschsprung's disease there is a marked increase in the level of the tetrameric form of the enzyme in the aganglionic region. The changing level of this form of the enzyme correlates well with the histochemical appearance suggesting that quantitative measurement of this molecular species might form the basis of an improved diagnostic test for the disease.

The characterisation of molecular forms of acetylcholinesterase in Hirschsprung's disease.

Aganglionic rectal tissue from patients with Hirschsprung's disease contains four forms of acetylcholinesterase; the major component has a sedimentation coefficient in the region of 10.0S. Results from gel filtration confirm these findings and, when used in conjunction with the sedimentation data, allow the determination of the molecular mass of these forms. The four species of acetylcholinesterase include: monomer, G1, 74 kDa dimer, G2, 131 kDa; tetramer G4, 275 kDa and an asymmetric form, A12, 811 kDa. Evidence is provided which shows that the major form, G4 interacts with the detergent Triton X-100. Selective measurement of G4-AChE using a suitable assay may provide the basis for improving the existing means of diagnosis of Hirschsprung's disease.

Tubular duplication of the rectum treated by mucosal resection.

This is a case report of an infant with tubular duplication of the rectum, extra lobular lung sequestration, gut malrotation, and a Meckel's diverticulum. The duplication was removed by a mucosal sleeve resection similar to that used in a Soave procedure for Hirschsprung's disease.

A 7-year study of the diagnostic value of rectal mucosal acetylcholinesterase measurement in Hirschsprung's disease.

Over a 7-year period, 213 children were investigated for failure to pass meconium or for chronic constipation. Of these, 45 were confirmed to have Hirschsprung's disease; in this group the acetylcholinesterase activity in rectal biopsy tissue was significantly increased (P less than .001; mean 34.2, 95% confidence limits, 8.6 to 95.2) units g-1 when compared with the non-Hirschsprung's group (mean 6.6, 95% confidence limits, 2.0 to 15.9 units g-1). By expressing the acetylcholinesterase activity as a percentage of the total cholinesterase activity it is possible to compensate for evaporative weight loss and the combination of these two measurements improves the overall diagnostic value of the test. There were no false-positive and only two false-negative results.

Plasma amino acid changes in the postsurgical newborn during intravenous nutrition with a synthetic amino acid solution.

Plasma amino acid concentrations during the therapeutic use of a crystalline amino acid solution are presented and discussed. In an attempt to avoid potentially dangerous hyperaminoacidemia, a maximum infusion rate of 350 mg nitrogen/kg/day was chosen. This resulted in the majority of the amino acids remaining within two standard deviations of normal mean,3 although levels of aspartate, glutamate, proline, valine, and isoleucine are in excess of this limit. No amino acid level is as much as one standard deviation below the mean, the lowest in this respect being lysine. A moderate increase in nitrogen provision is probably desirable to improve weight gain, but this solution would result in undesirable increases in these amino acid concentrations.

Surgical aspects of chronic peritoneal dialysis in the neonate and infant under 1 year of age.

Since 1982 eight patients under 1 year of age with end-stage renal failure have been treated by chronic peritoneal dialysis (CPD) following insertion of an abdominal Tenckhoff catheter. We routinely perform a partial omentectomy now, and in males undertake bilateral exploration of the groins at the time of catheter insertion, with herniotomy or ligation of the patent processus vaginalis as required. Up to January 1990, 19 straight double-cuff catheters had been inserted with a total follow-up of 244.5 patient months. The median age at the initial catheter insertion was 14.6 weeks (range, 2 days to 11 months) and the median weight was 3.89 kg (range, 2.2 to 5.5). Peritonitis was the most common complication, with 46 episodes, representing one episode of peritonitis per 5.3 patient months on dialysis. The frequency of peritonitis has decreased in the last 6 months since all patients have been dialysed by two caregivers. The present rate of peritonitis is 1 episode per 10 patient months on dialysis. One patient has died of septicemia secondary to associated congenital abnormalities, one patient has regained renal function, and two patients have been transplanted, one successfully. Five patients are currently dialysing via their abdominal Tenckhoff catheters and awaiting transplantation. We conclude that neonates and infants under 1 year of age can be treated satisfactorily by CPD to enable successful preparation for transplantation later in childhood.

Is delayed surgery really better for congenital diaphragmatic hernia?: a prospective randomized clinical trial.

Delayed surgery has become widely accepted in the management of congenital diaphragmatic hernia after comparing outcomes only with historical retrospective controls. It was the aim of this study to compare early and delayed hernia repair in a randomized prospective clinical trial. Fifty-four infants were randomized to receive either early repair (within 4 hours of admission) or delayed repair (more than 24 hours after birth). The survival rate was higher for the delayed group (57% v 46%), but the difference was not significant (difference: -11; 95% confidence limits: -37.5, 15.5). There were no significant differences between the two groups with respect to length of hospital stay, ventilator dependency, or survival time. Recorded preoperative risk factors were similar for the two groups. Eight infants in the delayed repair group died without having undergone surgery. The optimum time for surgery still needs clarification.

New dysmorphic syndrome with choanal atresia in siblings.

We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association.

Spontaneous maturation of stage IV--S neuroblastoma.

A case of stage IV--S neuroblastoma is presented in which treatment has deliberately been kept to a minimum. Gradual maturation to ganglioneuroma has been documented and the patient's generally good progress has justified this approach.

Benign mesenchymoma of the chest wall in infancy.

Chest wall mesenchymoma is a rare tumour in childhood and often presents in the neonatal period. In the past all patients have received surgical treatment with quite a high morbidity. We present here three further cases that presented in infancy, two of which received minimal therapy with good results in each case. We would propose from these cases that once the diagnosis has been established by biopsy that total surgical resection not be carried out unless cardiac or respiratory embarrassment is present.

The Northern region Children's malignant disease registry 1968-82: incidence and survival.

All cases of childhood cancer diagnosed before the 15th birthday in the years 1968-1982 and resident in the Northern Health Authority region have been registered. There were 1171 registrations and only two have been completely lost to follow up. The overall annual incidence of cancer was 107.1 per million children, similar to previously reported figures. There was no significant change in the rate over the 15 year period either for all cancers or individual cancer types. Eighty six percent of registrations had central review of pathological material. There has been a significant move towards centralisation of care over the 15 years and a significant improvement in survival over the three quinquennia for all cases and for most individual types. High white blood cell count at presentation was confirmed as a bad prognostic feature in children with acute lymphoblastic leukaemia (ALL). Children treated for ALL in a peripheral hospital had a significantly worse survival than those referred to a specialist centre. Survival rates were calculated for all of the major types of malignancy. The registry includes four sibling pairs with cancer and one family with three siblings affected. Ten children developed secondary primary tumours.

Diagnostic value of rectal mucosal acetylcholinesterase levels in Hirschsprung's disease.

Acetylcholinesterase (AChE) activity was measured in rectal biopsy specimens obtained from 68 children aged between 2 days and 14 1/2 years in whom Hirschsprung's disease was suspected. The diagnosis was subsequently established in 12; in these, the mean AChE activity was found to be 30.5 X 10(-7) units/g tissue (range 16.9 to 63.0). The 56 non-Hirschsprung cases had a mean of 5.0 X 10(-7) units/g tissue (S.D. 2.2), the highest value in this group being 10.9. The results were unaffected by age, sex, nature of biopsy procedure, or the presence of blood. It is suggested that the assay of AChE activity in rectal biopsy material is a simple and quick procedure that is useful in the diagnosis of Hirschsprung's disease.