Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin.

Mutations found in the two major glycosylated transmembrane proteins of the PNS myelin, the peripheral myelin protein zero (P0) and peripheral myelin protein 22 (PMP22), have been independently associated with the most common hereditary demyelinating peripheral neuropathies. Genotype-phenotype correlations in humans and transgenic animals have provided functional evidence that P0 and PMP22 are involved in formation and maintenance of compact myelin. Here, we demonstrate for the first time that P0 and PMP22 proteins form complexes in the myelin membrane, as shown by coimmunoprecipitation experiments, and that glycosylation is not involved in mediating these interactions. Complex formation was also detected when the two proteins were coexpressed in heterologous cells. In transfected cells, P0 and PMP22 are recruited and colocalize at the apposed plasma membranes of expressors as shown by confocal microscopy. These findings provide a new basis for a better understanding of myelin assembly and of the pathomechanisms involved in demyelinating peripheral neuropathies. Furthermore, these results propose a possible explanation why alterations in either of these molecules are sufficient to destabilize the myelin structure and cause a similar disease phenotype.

The new employee: proper orientation and training go a long way toward job success.

Considerable money is spent to advertise, interview, and hire a new employee. Considerable amounts of time and energy should be used to train, orient, and encourage this employee. The longevity of employees in their jobs is often directly related to the nurturing of the employee through continuing education.

Prognosis after grand mal seizures: a study of 187 children with three-year remissions.

From a total group of 640 children with grand mal seizures, 187 who became seizure-free for three consecutive years on monotherapy which was then discontinued have been followed for between one and 14 years. Relapse occurred in 22 children (12 per cent) and was related to age at presentation: only four of 89 children with primary grand mal seizures who had presented after the age of three years relapsed, compared with 12 of 45 who had presented before their third birthday. Children who had had more seizures were at greater risk of relapse. EEGs were not useful in predicting prognosis, whether taken at presentation or before withdrawal of treatment.

Coarctation of the aorta corrected during the first month of life.

Forty eight children (29 boys) had surgical correction of coarctation of the aorta during the first month of life; all had patent ductus arteriosus. The 33 survivors were reviewed at a mean age of 6.6 years. Of the 19 children with no associated anomaly, none had died. The more complex the associated anomalies, the greater the mortality. Two (6%) of the survivors, both with associated anomalies, have some residual disability; one is incapable of leading an independent life. No survivor has systemic hypertension. Six (18%) of the survivors have required correction of recurrent coarctation, and one is awaiting repair. Newborn babies suspected of having coarctation should be assessed for surgical correction without delay, and medical treatment (including, if necessary, infusion of prostaglandin E2 in a dose of 0.025 micrograms/kg/minute) should be instituted in the interim. Long term follow up is important to detect systemic hypertension or recurrence of the coarctation. This occurred in seven (21%) of our survivors.

Co-ordination screening for children with and without moderate learning difficulties: further experience with Gubbay's tests.

Modified Gubbay tests, assessing various aspects of motor performance, were administered to 885 Manchester children in mainstream primary education, and centile tables were drawn up by age. Children who had performed badly on one of the four tests were retested two years later, when they were found to have 'caught up' with controls. The primary-school children reached a ceiling in their performance by the age of nine or 10 years. A further 482 children, aged eight years to 16 years 11 months and attending schools for children with moderate learning difficulties, were assessed. These children showed continuing improvement up to the age of 14, after which little further improvement was seen. Thus this ceiling occurred some five years later than for the children in mainstream schools. On the more complex tests performance was worse than would have been predicted by general intelligence. Implications for policies of integration into mainstream schooling are discussed.

Iron deficiency in cystic fibrosis.

Iron state was measured as part of the comprehensive assessment of 165 patients with cystic fibrosis. Of 127 patients, 41 (32%) had low serum ferritin concentrations and at least this proportion were iron deficiency. Iron state did not correlate with clinical score, radiological score, or results of sputum culture. There was no evidence that patients with iron deficiency were either in better or worse clinical condition than those with better iron stores.

Motor co-ordination of children with mild mental handicap.

Motor co-ordination testing using Gubbay's tests was carried out on 885 mainstream schoolchildren, broadly representative of national social class distribution, and on 482 children attending Greater Manchester schools for children with moderate learning difficulties. In spite of limited reliability of the tests considerable differences were demonstrated, suggesting that mildly mentally retarded children are also retarded in motor development. This has clear implications for educational planning whether such children are to be educated in special or mainstream schools in future.

Iron deficiency in young Bradford children from different ethnic groups.

Haematological parameters and iron state were studied in children admitted to hospital consecutively during a six month period. A total of 147 of 598 children (24.6%) were anaemic, with haemoglobin values below the third centile of the reference range, and 131 of 400 children (32.8%) were iron deficient, with serum ferritin concentrations less than 10 micrograms/l. Both findings were more common in children from the Asian ethnic minority. The "routine" full blood count is a useful tool for the presumptive identification of iron deficiency in childhood. Iron deficiency is deleterious to the health of young children. In view of its extent and degree--not exclusively among the Asian ethnic minority--a community based preventive programme on the lines of the Stop Rickets Campaign is recommended.