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OBJECTIVES: To evaluate the effect of a bicycle helmet promotion campaign on helmet wearing among cyclists less than 16 years of age from 1992-98. SETTING: Reading, West Berkshire, UK. METHODS: A hospital led bicycle helmet promotion campaign targeted at 5-15 year olds. The campaign focused on education with active involvement of the children, parents, schools, and safety organisations. Local media and children's celebrities raised the profile of the campaign and a low cost helmet purchase scheme was also set up. A self administered questionnaire survey of 3,000, 11-15 year olds was carried out over the period of the campaign. A control group of 3,000 teenagers was obtained from a neighbouring area without a helmet campaign. Accident and emergency (A&E) figures were obtained from the local hospital within the campaign area on all children aged under 16 years, attending with bicycle injuries. Unfortunately, no figures were available from the A&E department in the control area. RESULTS: Self reported helmet use among 11-15 years olds living in the campaign area increased from 11% at the start of the campaign to 31% after five years (p<0.001), with no change in the control group. Hospital casualty figures in the campaign area for cycle related head injuries in the under 16 years age group, fell from 112.5/100,000 to 60.8/100,000 (from 21.6% of all cycle injuries to 11.7%; p<0.005). CONCLUSIONS: This hospital led community bicycle helmet promotion campaign directed at young people showed an increase in the number of children reporting that they 'always' wore their helmet while cycling. There was a significantly higher rate of helmet wearing than in the control area, and a significant reduction in head injuries. [ABSTRACT FROM AUTHOR]

Background: Maturity-onset diabetes of the young (MODY) is uncommon; however, accurate diagnosis facilitates personalized management and informs prognosis in probands and relatives., Objective: The objective of the study was to highlight that the appropriate use of genetic and nongenetic investigations leads to the correct classification of diabetes etiology., Case Discussion: A 30-year-old European female was diagnosed with insulin-treated gestational diabetes. She discontinued insulin after delivery; however, her fasting hyperglycemia persisted. β-Cell antibodies were negative and C-peptide was 0.79 nmol/L. Glucokinase (GCK)-MODY was suspected and confirmed by the identification of a GCK mutation (p.T206M)., Methods: Systematic clinical and biochemical characterization and GCK mutational analysis were implemented to determine the diabetes etiology in five relatives. Functional characterization of GCK mutations was performed., Results: Identification of the p.T206M mutation in the proband's sister confirmed a diagnosis of GCK-MODY. Her daughter was diagnosed at 16 weeks with permanent neonatal diabetes (PNDM). Mutation analysis identified two GCK mutations that were inherited in trans-p. [(R43P);(T206M)], confirming a diagnosis of GCK-PNDM. Both mutations were shown to be kinetically inactivating. The proband's mother, other sister, and daughter all had a clinical diagnosis of type 1 diabetes, confirmed by undetectable C-peptide levels and β-cell antibody positivity. GCK mutations were not detected., Conclusions: Two previously misclassified family members were shown to have GCK-MODY, whereas another was shown to have GCK-PNDM. A diagnosis of type 1 diabetes was confirmed in three relatives. This family exemplifies the importance of careful phenotyping and systematic evaluation of relatives after discovering monogenic diabetes in an individual.

Context: Maternally inherited 3-kb STX16 deletions cause autosomal dominant pseudohypoparathyroidism type Ib (PHP-Ib) characterized by PTH resistance with loss of methylation restricted to the GNAS exon A/B., Objective: The objective of the study was to search for the 3-kb STX16 deletion and to establish haplotypes for the GNAS region for two PHP-Ib patients and their families., Setting: The study was conducted at a research laboratory and tertiary care hospitals., Patients: The index cases presented at the ages 8 and 9.5 yr, respectively, with hypocalcemia, hyperphosphatemia, and elevated PTH., Interventions: There were no interventions., Results: DNA analyses of the index cases revealed an isolated loss of the GNAS exon A/B methylation and the 3-kb STX16 deletion. In the first family, the patient's healthy mother and sister showed no genetic or epigenetic abnormality, yet microsatellite analysis of the GNAS region indicated that both siblings share the same maternal allele, with the exception of an allelic loss for marker 261P9-CA1 (located within STX16), leading to the conclusion that a de novo mutation had occurred on the maternal allele. In the second family, three siblings of the index case are also affected, and an analysis of their DNA revealed the 3-kb STX16 deletion, which was also found in the healthy mother and a maternal uncle. Analysis of the siblings of the deceased maternal grandfather and some of their descendants excluded the 3-kb STX16 deletion, but haplotype analysis of the GNAS region suggested that he had acquired the mutation de novo., Conclusions: De novo 3-kb STX16 deletions, reported only once previously, are infrequent but should be excluded in all cases of PHP-Ib, even when the family history is negative for an inherited form of this disorder.

Using targeted exome sequencing, we identified mutations in NNT, an antioxidant defense gene, in individuals with familial glucocorticoid deficiency. In mice with Nnt loss, higher levels of adrenocortical cell apoptosis and impaired glucocorticoid production were observed. NNT knockdown in a human adrenocortical cell line resulted in impaired redox potential and increased reactive oxygen species (ROS) levels. Our results suggest that NNT may have a role in ROS detoxification in human adrenal glands.

Aims: To determine the efficacy and patient perception of various transfer procedures from paediatric to adult diabetes services., Methods: Comparison between four districts in the Oxford Region employing different transfer methods, by retrospective study of case records and interviews of patients recently transferred from paediatric diabetes clinics. The main outcome measures were age at transfer, clinic attendance rates, HbA1c measurements and questionnaire responses., Results: Two hundred and twenty-nine subjects (57% males) > 18 years old in 1998 and diagnosed with Type 1 diabetes < 16 years of age between 1985 and 1995, identified from the regional diabetes register. The notes audit was completed for 222 (97%) and 164 (72%) were interviewed by a single research nurse. Mean age at transfer was 17.9 years (range 13.3-22.4 years). Few young people were lost to follow-up at the point of transfer. There was a high rate of clinic attendance (at least 6 monthly) 2 years pretransfer (94%), but this declined to 57% 2 years post-transfer (P < 0.0005). There was large interdistrict variation in clinic attendance 2 years post-transfer (29% to 71%); higher rates were seen in districts where young people had the opportunity to meet the adult diabetes consultant prior to transfer. The importance of this opportunity was confirmed by questionnaire responses on interview., Conclusions: Adolescence is a vulnerable period for patients with diabetes. This regional survey demonstrated a marked decline in clinic attendance around the time of transition from paediatric to adult services. The reasons are complex, but mode of transfer may be an important factor.

We describe three siblings, one of whom has serpentine fibula syndrome (SFS) and has many facial and skeletal features in common with two deceased brothers, making it highly likely that they too had the condition. The karyotype of one of the deceased males was 47,XXY. These are the first affected sibs with SFS, and the first affected males. They all have other abnormalities which have not previously been described as part of the condition, namely congenital heart disease, inguinal herniae (two sibs), intestinal malrotation (two sibs) and coloboma (one sib). Facially they resemble the cases described by ter Haar et al. (1983), who also had congenital heart disease and a skeletal dysplasia though did not have the characteristic bowing of the fibulae. There are also features in common with Hadju-Cheney syndrome.

We report a sibship in which the syndrome of congenital arthrogryposis occurred in two male and two female neonates, three of whom died. The mother was asymptomatic at the time of the first pregnancy and the subsequent development of muscle weakness was later confirmed to be due to myasthenia gravis. The literature on this association is briefly reviewed and the extremely high risk of recurrence of this complication in subsequent pregnancies is addressed.

A 6-year-old boy was admitted to hospital with acute gangrenous cholecystitis requiring emergency cholecystectomy. Examination of the gall-bladder revealed severe inflammation with areas of necrosis and mucosal sloughing; serology confirmed hepatitis A infection. Acute cholecystitis due to hepatitis A infection has very rarely been reported.

Ten diabetic adolescents who had poor blood glucose control during the preceding year were recruited into a crossover insulin dosage study. Diabetic control was assessed on two insulin dosage regimens; either 1.0 U/kg/day ("limited dosage") or 1.4 U/kg/day ("increased dosage"). The study had a 1-mo run-in period followed by two treatment periods each of 3-mo duration. Improvement in control occurred during "increased" insulin dosage with reduction of glycosylated hemoglobin levels (P less than 0.001), self-monitored blood glucose levels (P less than 0.001), and 24-h urine glucose excretion (P less than 0.01). Overnight studies did not reveal hypoglycemia (blood glucose less than 2 mmol/L) in either group, but improved overnight glucose profiles were demonstrated on the "increased" dosage and were associated with higher free insulin levels. The study supports the case for a higher maximal insulin dosage than commonly recommended during adolescence.

A total of 113 women in labour were studied prospectively to determine the relation between maternal and cord serum sodium levels and the effect of intravenous infusions of glucose solutions and oxytocin during labour on the mother and infant. Maternal and cord sodium levels were correlated, with no systematic difference between the two, which is consistent with passive diffusion of sodium across the placenta. Glucose infusions and oxytocin caused statistically significant depression of maternal and cord serum sodium levels, but with the quantities used this did not adversely affect the mothers or infants. It is recommended that caution should be exercised in prescribing intravenous therapy during labour and, if more than 500 ml of fluid is required, sodium should be included.

Critically ill infants with congenital diaphragmatic hernia were treated by either early surgery or delayed surgery after preoperative stabilisation. The preoperative stabilisation was aimed at correcting acidosis and hypoxia, thereby reducing the severity of persistent fetal circulation. Survival improved from 12.5% after early surgery to 52.9% after delayed surgery.

Eighteen children between 6 and 14 years of age with perennial asthma were studied over two four-week treatment periods. Ipratropium bromide, given in addition to their current treatment, was compared with placebo using a double-blind crossover technique. The period of treatment with ipratropium was associated with a significant reduction in symptoms during both day and night and significantly higher morning peak expiratory flow rates.

Total glycosylated haemoglobin (HbA1) levels from capillary blood were studied retrospectively during a 1-year period in 148 diabetic children aged between 1.9 and 16.8 years. The clinic range for HbA1 was 6.7 to 22.2% and the results were normally distributed (mean +/- SD 13.2 +/- 2.8%). The normal range in non-diabetics using this method is 4.9 to 8.0%. Results from children who had had diabetes for more than 5 years were higher than those from children with diabetes of 2 to 5 years' duration. Girls had higher average values during the 1-year period than boys. HbA1 measurement serves to identify the deficiencies of current diabetic treatment regimens. It also has more immediate practical benefits in focusing attention on children whose control is deteriorating.

Semisynthetic human insulin and highly purified porcine insulin were compared in a double blind crossover study in 21 diabetic children. Glycosylated haemoglobin values at the end of four month treatment periods were higher after treatment with human insulin than after treatment with porcine insulin (mean 15.7% (SD 2.3%) v 14.2% (2.3%); p less than 0.01). Higher fasting blood glucose concentrations occurred during treatment with human insulin than with porcine insulin (mean 12.0 (SD 2.1) v 11.0 (2.4) mmol/1; mean 216 (SD 38) v 198 (43) mg/100 ml; p less than 0.05), but there were no significant differences at other time points during the day. The incidence of hypoglycaemia was similar for both treatment groups. Concentrations of antibody reactive with porcine and human insulins were similar for the two treatment groups, although greater fluctuation was observed in the amount of antibody reactive with human insulin. Semisynthetic human insulin is safe and effective in diabetic children, although further work is needed to devise regimens which achieve optimal blood glucose control.

The results of three controlled trials performed on children with insulin-dependent diabetes mellitus were examined for evidence of seasonal variation in concentrations of glycosylated haemoglobin (HbA1). All three studies showed lower levels during the summer months. Multiple regression analysis showed that the month of sampling accounted for a significant proportion of the total variance in HbA1 levels (P less than 0.001 in all three studies). We suggest that exercise, dietary changes and the frequency of minor illnesses may all contribute to this fluctuation which has important implications for the design of clinical trials in childhood diabetes.

Three infants are reported who developed gluteal skin necrosis as a result of umbilical arterial catheterisation. It is important to examine the buttocks and back of every baby catheterised, so that early remedial action can be taken.

The benefits of self-monitoring of blood glucose (SMBG) in diabetic children have been assessed in an 18-mo prospective study by comparison of two groups, one receiving intensive education (N = 20) and the other, education combined with SMBG (N = 19). Regular home visits were made with all children during which attempts were made to optimize diabetes control. Mean blood glucose levels in the SMBG group showed a downward trend throughout the study; however, values at baseline (11.7 mmol/L) were not significantly different from those at completion of the study (10.8 mmol/L). Hemoglobin A1c levels showed a seasonal fluctuation, but values at the beginning and end of the study were nearly identical to each other in both groups. The SMBG group showed a reduction in the number of hospital admissions for stabilization of control and for ketoacidosis (P less than 0.04).

The antigenicity and efficacy of semi-synthetic human and pancreatic pork insulins have been compared in a double-blind double cross-over study in 96 insulin-treated diabetic patients. Transfer from pork to human insulin was associated with a 1.2 +/- 0.5 mmol/l deterioration (p less than 0.05) in the fasting blood glucose level, while the opposite change caused a 1.1 +/- 0.5 mmol/l improvement (p less than 0.05). After 4 months treatment, glycosylated haemoglobin levels were lower on pork (11.1 +/- 0.3%) than on human (11.7 +/- 0.3% p less than 0.01) insulin. The incidence of hypoglycaemia was similar with the two insulins. IgG insulin antibody levels were identical after human insulin treatment (5.7 +/- 0.4 micrograms/l) compared to pork insulin treatment (5.9 +/- 0.5 micrograms/l). Patients with high levels of antibodies (greater than 10 micrograms/l) showed a similar reduction in level when switched to either species of highly purified insulin. The deterioration in fasting blood glucose control is consistent with similar reports for biosynthetic human insulin and suggests, in the absence of changes in insulin antibody levels, a small but clinically significant pharmacokinetic difference between human and pork insulin.

The effect of alternating night and day on sleep, feeding, and weight gain in 41 healthy preterm infants was examined in a randomised controlled trial. Twenty infants from a night and day nursery, where the intensity of light and noise was reduced between 7 pm and 7 am, spent longer sleeping and less time feeding and gained more weight than 21 infants from a control nursery, where the intensity of light and noise was not reduced. Differences were significant and became apparent only after discharge home; they were still present three months after the expected date of delivery, when infants from the night and day nursery were an average of 0.5 kg heavier (p less than 0.02). These findings suggest that physical environment has an effect (either direct or indirect) on the subsequent behaviour of preterm infants and that exposure to night and day is beneficial.

Four infants were seen on six separate occasions with febrile illnesses associated with a bulging anterior fontanelle and irritability. They had signs of a transient form of intracranial hypertension.