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Biomedical subjects

R E Appleton

Publications and source records attributed to R E Appleton.

At least 19 recordsLinked to original sources
PubMed2000

Dermatomyositis and Whipple's disease.

A 14-year-old boy presented with a 3-year history of a skin rash typical of juvenile dermatomyositis, and a 2-month history of mild proximal weakness, myalgia, and weight loss. A quadriceps biopsy showed perifascicular fibre atrophy, focal necrosis and regeneration, immunohistochemical labelling for HLA-1 on the surface of the fibres, and focal C5-9 deposition in capillaries. Macrophages with diastase-resistant, PAS-positive cytoplasm were present. Ultrastructural studies showed electron dense and membranous debris. The patient's symptoms responded to intravenous immunoglobulin and oral prednisolone. Four months after discontinuing prednisolone, the patient developed cardiac failure, ventricular tachycardia, and a recurrence of his rash. The 16S ribosomal RNA specific for Tropheryma whippelii was identified by polymerase chain reaction (PCR) analysis in skeletal and cardiac muscle. The myalgia and skin rash responded to prednisolone and oral co-trimoxazole, and the tachycardia is controlled by oral verapamil. This patient appears to have a novel association of juvenile dermatomyositis and Whipple's disease.

Actinobacteria↗
PubMed1999

Children presenting with convulsions (including status epilepticus) to a paediatric accident and emergency department: an audit of a treatment protocol.

All children who presented in a convulsion, including convulsive status epilepticus, to the accident and emergency department over a 12-month period and who required treatment, were reviewed retrospectively to identify the effectiveness and safety of a specific treatment protocol. This protocol recommends the initial use of one, or if necessary, two doses of rectal or intravenous diazepam (0.4 mg/kg) followed by the simultaneous administration of phenytoin (18 mg/kg) and rectal paraldehyde (0.4 mL/kg), with instructions for maximum doses and timings of administration. Eighty-one evaluable children (52 male) were audited. The mean age of the study population was 4.1 (range 0.1 to 14.9) years. Overall, the presenting convulsion was successfully terminated in 76 children (94%) within the accident and emergency department. In 69 children (85% of the entire study population) this was after a single dose of diazepam (rectal in 41 and intravenous in 28). In only an additional two children did the presenting convulsion stop after a second dose of diazepam. In five of the 10 children (50%) who received paraldehyde and phenytoin as a combination, the convulsion stopped. Nine patients (11%) required admission to the intensive-care unit, five because of persisting convulsive activity, and four because of respiratory depression. The results of this retrospective audit suggest that the current treatment protocol appears to be effective and relatively safe in treating acute convulsions, including convulsive status epilepticus. The audit is to be repeated prospectively to either confirm or refute these findings before recommending any changes to the protocol.

Adolescent↗
PubMed1999

Randomised, placebo-controlled study of vigabatrin as first-line treatment of infantile spasms.

PURPOSE: Vigabatrin (VGB) has been shown to be an effective drug in the treatment of infantile spasms (West syndrome) in predominantly retrospective and open but also in prospective studies. This prospective, randomised, and placebo-controlled trial of VGB in infantile spasms was considered to be justified and feasible to confirm or refute these previous findings. METHODS: Forty children with newly diagnosed infantile spasms received either VGB or placebo for 5 days in a double blind, placebo-controlled, parallel-group study, after which all the infants continuing in the study were treated openly with VGB for a minimum of 24 weeks. RESULTS: Compared with baseline, at the end of the double-blind phase, the patients treated with VGB had a 78% (95% confidence interval, 55-89%) reduction in spasms compared with 26% (-56-65%) in the group treated with placebo (p = 0.020). Seven VGB-treated patients and two placebo-treated patients were spasm free on the final day of the double-blind period (p = 0.063). At the end of the study, 15 children (38% of the original 40 patients or 42% of the 36 patients who entered the open phase) were spasm free with VGB monotherapy. No patient withdrew from the study because of an adverse event. CONCLUSIONS: This unique randomized, placebo-controlled study is the first to demonstrate the efficacy of a specific drug in the treatment of West syndrome and supports the results of previously published open and prospective trials. It further confirms that VGB could be considered as the drug of first choice in treating infantile spasms.

Adolescent↗
PubMed1998

Myotubular myopathy: morphological, immunohistochemical and clinical variation.

Myotubular myopathy frequently presents in male infants with severe generalised muscular hypotonia and weakness associated with ventilatory insufficiency, and is diagnosed on biopsy by the presence of many fibres with central nuclei and mitochondrial aggregation. In a 6-year period, we have investigated five unrelated patients with clinical and pathological features suggesting an X-linked myotubular myopathy, including one female patient. In one male infant, a biopsy of vastus lateralis showed less than 2% centrally-nucleated fibres, while biceps brachii showed up to 15% centrally-nucleated fibres. Immunohistochemical expression of the neural cell adhesion molecule (CD56) was more intense in the biceps muscle than in vastus lateralis, while expression of desmin and vimentin was similar. Morphometric evaluation of tissue from each of the patients revealed a wide spread of values for the number of centrally-nucleated fibres per microscopic field, and variation in the extent of immunohistochemical expression of NCAM, utrophin, laminin alpha 5 chain, vimentin and HLA1 antigen. These variations in the manifestations of myotubular myopathy have not been previously described, and will need to be correlated with the increasing knowledge of the mutations in the MTM1 gene coding for myotubularin.

Adolescent↗
PubMed1997

Sudden, unexpected death in epilepsy in children.

Sudden, unexpected death in epilepsy (SUDEP) remains a controversial and enigmatic syndrome, particularly in children where the incidence, prevalence and risk factors may, and probably do, differ from adults. This study demonstrates (and further reinforces) the difficulties and inability of retrospective and coroner/death certificate-derived data in identifying the frequency of SUDEP in children.

Adolescent↗
PubMed1997

The biochemical investigation of epilepsy in childhood.

Metabolic disorders are a relatively uncommon, but important, cause of childhood seizures. Routinely searching for a metabolic disorder in epilepsy is usually unrewarding. Children and adolescents with epilepsy can be selected for appropriate biochemical investigation by considering the seizure type, age of onset, EEG appearance, family history, clinical findings and the results of brain imaging. A limited number of biochemical screening tests can be used to categorize the more common metabolic disorders associated with seizures.

Adolescent↗
PubMed1997

Managing the teenager with epilepsy: paediatric to adult care.

Epilepsy starting in childhood frequently persists through adolescence and into adult life, and an onset in adolescence itself is common. The management of the teenager with epilepsy is important but often inadequate. In 1991, a specific clinic for teenagers with epilepsy was established in Liverpool to address the unique needs and concerns of this age group and, importantly, to facilitate a smooth hand-over of specialist epilepsy care from paediatric to adult services. An additional and crucial benefit of this clinic has been to provide a further, and hopefully final, screen to confirm (or refute) the diagnosis of epilepsy, to corroborate, or correctly identify, the specific epilepsy syndrome and to ensure that the most appropriate antiepileptic drug (AED) is being prescribed and when, if possible, the drug can be withdrawn. Of 120 consecutive patients referred to the teenager clinic, 12 (10%) did not have epilepsy, and 26 (22%) were being treated with an inappropriate AED. The main issues and concerns voiced by the teenagers included choices of further education and career, the possibility and risks of withdrawing anticonvulsants, driving regulations, the inheritance of epilepsy and pregnancy/contraception. This teenager clinic could serve as a model for both other 'epilepsy centres' and also for managing other chronic disorders with an onset in childhood.

Adolescent↗
PubMed1997

Myositis ossificans complicating severe Guillain-Barré syndrome.

We report myositis ossificans occurring in a 13-year-old boy with severe and rapidly progressive Guillain-Barré syndrome. This complication should be considered when severe musculoskeletal pain is experienced by such patients. Disodium etidronate may be of benefit in this condition.

Adolescent↗
PubMed1996

Absence epilepsy in children: the role of EEG in monitoring response to treatment.

We report the use of repeat electroencephalography (EEG) in the management of 69 patients with childhood-onset absence epilepsy (CAE). Electro-clinical absences were demonstrated in seven children who were felt clinically to have persisting absences. In three of the remaining 62 patients who were thought to be seizure-free, repeat EEG showed electro-clinical absences; revision of AEDs in these three children resulted in clinical and EEG control. EEG is a useful adjunct to the (usual) subjective monitoring of the response to treatment, and should be repeated routinely in all patients with CAE.

Anticonvulsants↗