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Biomedical subjects

R E Appleton

Publications and source records attributed to R E Appleton.

At least 37 records · Page 2Linked to original sources

Immunoglobulin therapy in Guillain-Barré syndrome in children.

Four children with evolving Guillain-Barré syndrome were treated with a five-day course of intravenous immunoglobulin. No patient showed further progression of the condition and all made a rapid and complete recovery with no evidence of relapse over a six- to 24-month follow-up period. The early use of immunoglobulin in this disorder may prevent further progression of the disease and accelerate short-term recovery, with resulting medical, social and financial implications.

Adolescent

EEG requests in paediatrics: an audit.

An audit of 165 requests for electroencephalography (EEG) was undertaken before and after the introduction of guidelines and recommendations, 12 months apart. Inadequate clinical information was provided in requests in both surveys; 40% of requests were considered to be unnecessary, and approximately 50% of clinicians felt that EEG could diagnose epilepsy.

Adolescent

The treatment of sleep disorders with melatonin.

Fifteen children (most of whom were neurologically multiply disabled) with severe, chronic sleep disorders were treated with 2 to 10mg of oral melatonin, given at bedtime. Nine had fragmented sleep patterns, three had delayed sleep onset and three others had non-specific sleep disturbance of unclear aetiology; all had failed to respond to conventional management. Nine patients had ocular or cortical visual impairment. The health, behavioural and social benefits of treatment were significant, and there were no adverse side-effects. While the response was not always complete, the study clearly showed that melatonin has an important role in the treatment of certain types of chronic sleep disorders.

Adolescent

Infantile spasms.

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Child, Preschool

Eyelid myoclonia with typical absences: an epilepsy syndrome.

Five unrelated patients are described with the clinical and electrical features of eyelid myoclonia with absences (EMA). In this syndrome brief, typical absences occur with rapid eyelid myoclonia associated with retropulsive movements of the eyeballs and occasionally of the head. The seizures are of shorter duration than in childhood absence epilepsy, and are accompanied by less profound impairment of consciousness. The electroencephalogram demonstrates high amplitude discharges consisting of spikes, multiple spikes and slow waves at a fluctuating frequency of 3-5 Hz and following eye closure, which disappear in darkness. Photosensitivity is also seen. Onset is in early childhood and EMA appears to persist into adult life. Treatment is sodium valproate in combination with either ethosuximide or a benzodiazepine. On the basis of the clinical features, EEG findings, and the response to treatment and prognosis, it is suggested that EMA be classified as a specific epilepsy syndrome.

Adolescent

Focal electroencephalographic abnormalities and computerised tomography findings in children with seizures.

A persistent focal abnormality was observed in 157 (16%) electroencephalograms undertaken in 964 consecutive children with epileptic and non-epileptic seizures seen over one year. CT head scans were performed in 121 (77%) of the 157 children with a focus on the EEG; 26 (21%) showed an abnormality, and 21 (81%) of the abnormalities were localised. There was no difference in the proportion of abnormal scans associated with a delta or slow wave focus compared with a spike or sharp wave focus. An abnormal scan was uncommon after a single seizure. In only two patients (1.7% of all scans) did the findings on CT alter or greatly influence subsequent management.

Adolescent

The role of vigabatrin in the management of infantile epileptic syndromes.

More than 360 children with intractable epilepsy have been treated with vigabatrin in single-blind or open, add-on studies. Approximately 50% or more of patients with West syndrome and partial seizures have shown a 50% or greater reduction in seizure frequency with the use of vigabatrin. A less consistent response has been found between studies evaluating vigabatrin in children with Lennox-Gastaut syndrome, although, overall, approximately 50% of these patients have also shown a greater than 50% decrease in seizures. The use of vigabatrin in idiopathic localization-related epilepsy, idiopathic generalized epilepsy, and the Landau Kleffner syndrome have not been reported, but its evaluation in these conditions may be warranted based on the relatively excellent safety profile of vigabatrin. Vigabatrin has been shown to aggravate "nonprogressive myoclonic epilepsies." Vigabatrin has been well tolerated in children, with mild drowsiness and agitation being the most commonly reported side effects.

Aminocaproates

False diagnosis of epilepsy in children.

Epilepsy is frequently diagnosed incorrectly through a failure to obtain an adequate history and placing inappropriate emphasis on the electroencephalogram (EEG). We describe four children with common, nonepileptic events who were diagnosed initially as having epilepsy.

Adolescent

Congenital Horner syndrome associated with non-cervical neuroblastoma.

Horner syndrome may be caused by a neuroblastoma involving the cervical sympathetic nervous system. A two-year-old girl presented with Horner syndrome and a discrete, distant neuroblastoma, suggesting that these two conditions represent a more widespread dysgenesis of the sympathetic nervous system.

Child, Preschool

A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.

A Duchenne muscular dystrophy patient who displayed near-normal dystrophin staining at the sarcolemma with N-terminal, but not with C-terminal, anti-dystrophin monoclonal antibodies was found to have a frameshift deletion of exons 42 and 43. This deletion introduces an early termination codon, and a 225-kD protein was detected by western blotting with N-terminal antibodies only. The results suggest that an N-terminal truncated dystrophin fragment encoded by exon 1-41 is able to associate with the muscle cell membrane. The current idea that the C-terminal domains of dystrophin are important or essential for its integration with the sarcolemma may have to be reexamined in the light of these observations.

Amino Acid Sequence

Encephalitis lethargica-like illness in a five-year-old.

A five-year-old boy presented with an encephalitis lethargica-like illness, characterised by somnolence, mutism and Parkinsonian rigidity two weeks after an acute exanthem. Investigation revealed increased serum measles antibody titre. He made a complete recovery. Encephalitis lethargica associated with Parkinsonism in childhood is rare and usually carries a poor prognosis.

Akinetic Mutism