Resuscitation of general paediatrics in the UK.

"The report of my death was an exaggeration", said Mark Twain. For a dying specialty, general paediatrics has certainly been looking very healthy recently. It is timely to examine why our specialty was thought to be at such risk, and to explore why, although in many cases shocked and confused, it is well on the way to recovery. This article explores what is needed to keep it healthy to ensure that the general paediatrician is at the centre of the delivery of paediatrics in the UK.

The major histocompatibility complex influences the development of chronic liver disease in male children and young adults with cystic fibrosis.

BACKGROUND/AIMS: Chronic liver disease is a well-recognised complication of cystic fibrosis. Recent reports suggest that its development is not determined by specific mutations within the cystic fibrosis gene; however, familial clustering of portal hypertension cases and inappropriate immune responses against liver membrane antigens demonstrated in children with cystic fibrosis and chronic liver disease suggest that other genetic loci may be relevant. As the major histocompatibility complex has an important immunoregulatory role, we have investigated for associations with this complex and chronic liver disease in cystic fibrosis. METHODS: We have determined human leucocyte antigen class I (A and B) and class II (DR) phenotypes by serological tissue typing and class II (DR and DQ) and class III (complement component C4 and 21-hydroxylase) gene polymorphisms in 274 children and young adults with cystic fibrosis, of whom 82 had evidence of chronic liver disease with portal hypertension in 49, and 146 healthy controls. RESULTS: A marked difference in human leucocyte antigen frequency was limited to DQ6, which was found in 66.7% of cystic fibrosis patients with liver disease compared to 32.9% of patients with no liver disease (Pc < 0.03) and 28.8% of controls (Pc < 0.006). An increased frequency of the two antigens in strong linkage disequilibrium with DQ6 was also observed within this patient group, namely DR15 and B7. When the patients were stratified for the presence of portal hypertension, these observations were confirmed, but the human leucocyte antigen associations were significant only for male patients and there was no association with the age of onset of liver disease. CONCLUSIONS: These data suggest that the haplotype B7-DR15-DQ6 may carry an increased risk of development of liver disease in male cystic fibrosis patients.

Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease.

Genetic factors have been implicated in the pathogenesis of liver disease in cystic fibrosis. To investigate whether liver disease is associated with particular mutations of the defective gene in cystic fibrosis, we have determined the frequencies of three mutations--delta F508, G551D and R553X--in 111 children and young adults with cystic fibrosis by analysis of genomic DNA segments amplified by the polymerase chain reaction. Twenty-nine patients had severe liver disease with portal hypertension, 19 had clinical and/or biochemical evidence of liver disease but no associated portal hypertension and 63 had no evidence of liver disease. No significant differences in the frequencies of the delta F508, G551D or R553X mutations in the three clinical subgroups were found, and we conclude that the development of liver disease in cystic fibrosis is unlikely to be associated with a specific mutation in the gene. However, because 27% of cystic fibrosis chromosomes do not have a defined mutation, this possibility cannot be ruled out. A familial concordance for clinical liver disease of 20% in this study, compared with a reported prevalence of 4.7%, suggests that genes outside the cystic fibrosis locus and/or environmental factors are involved in the pathogenesis of liver disease in cystic fibrosis.

Rehabilitation and outcome after severe head injury.

After severe head injury, many children continue to experience major cognitive and behavioural problems and consequent educational difficulties, even after good physical recovery. Forty three children referred to the regional multidisciplinary head injury rehabilitation team are described. The clinical outcome at a median interval of 13 months after injury showed that 18 (42%) had persistent neurological impairment and 15 (35%) had an identified need for special educational support. Thirty seven children were further assessed for psychiatric morbidity, cognitive impairment, and classroom performance. Rutter behavioural questionnaires were sent to parents and teachers of head injured index cases and classmate controls matched for age and sex. Index parents scored their children significantly worse in both 'health' and 'habits' and more cases than controls had scores suggesting a psychiatric disorder. Teachers scored index cases significantly worse for five of the traits questioned, but discriminated cases from controls less decisively than parents. Index cases were significantly disadvantaged on teachers' assessments of classroom skills and performance. A need for improved support and training of staff who teach head injured children was identified.

Prevalence of liver disease in cystic fibrosis.

To assess the prevalence, demography, and clinical features of liver disease among patients with cystic fibrosis the case notes of 524 patients of all ages who were attending the cystic fibrosis clinic were studied. Computer databases were used to establish the condition of the liver in a further 576 such patients. The overall prevalence of overt liver disease indicated by the presence of an enlarged liver or spleen (or both) was 4.2%. The age related prevalence rose to a peak in adolescence, and then fell in patients over 20 years old. The implied increase in mortality among those with liver disease was not explained by deaths from liver disease, which were rare. Male patients were significantly more affected than female, the ratio being 3:1 among adolescents. Increasing prevalence of liver disease in patients with cystic fibrosis is, therefore, not just a result of longevity.

Slow-release potassium and perforation of Meckel's diverticulum.

A case of peritonitis following perforation of gastric-type mucosa in a Meckel's diverticulum is described. At laparotomy a wax core of a combined diuretic-slow-release potassium preparation was found extruding through the perforation and a further pellet was found free in the peritoneal cavity. Intestinal perforation due to potassium-containing drugs is recognized and led to the development of enteric-coated and slow-release delivery systems. The association of perforation of Meckel's diverticulum with a slow-release potassium perforation has not previously been described.