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Biomedical subjects

R E Appleton

Publications and source records attributed to R E Appleton.

At least 55 records · Page 3Linked to original sources
PubMed1992

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↗
PubMed1991

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↗
PubMed1991

Head circumference and intellectual performance of patients with Duchenne muscular dystrophy.

The head circumferences of 64 patients with Duchenne muscular dystrophy were measured and found to be greater than those of a normal population. The patients had relative, and in 12 cases, absolute macrocephaly. 47 of the 64 patients underwent intelligence testing and were found to be significantly intellectually impaired, particularly in verbal and language skills. There was no correlation between head circumference or absolute macrocephaly and intellectual performance. The cause of macrocephaly in these patients is unknown and its relevance to the aetiology of intellectual impairment in Duchenne muscular dystrophy is not yet clear.

Adolescent↗
PubMed1991

'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood.

Of 23 children with hereditary spastic paraplegia (HSP), spasticity was the only neurological abnormality in eight patients (pure form). Additional neurological abnormalities in the 15 with complicated HSP included cognitive impairment, pseudo-bulbar palsy, cerebellar dysfunction and polyneuropathy. 19 children presented with abnormal gait, recognised at a mean age of three years in the pure form and five years in the complicated form. These forms were distinguished at a mean age of 11 years. Early non-motor developmental delay or rapidly ascending paraparesis, with spread of spasticity to the arms and with involvement of bulbar structures, predicted development of the complicated form. The pure form was inherited in an autosomal dominant manner in five patients. The autosomal recessive form was commonly associated with additional neurological abnormalities and a more rapid rate of progression.

Activities of Daily Living↗
PubMed1990

The high incidence of valproate hepatotoxicity in infants may relate to familial metabolic defects.

The incidence of fatal hepatic failure associated with valproic acid (VPA) therapy is highest in children under the age of three years, particularly in those with developmental delay. The pathogenesis of VPA hepatotoxicity is unclear but may relate to the accumulation of a toxic metabolite of VPA which impairs fatty-acid oxidation. We describe two unrelated infants with developmental delay who developed hepatic failure while receiving VPA. Siblings of both children subsequently developed hepatic steatosis and intractable seizures without being exposed to VPA. This suggests that the two children who developed liver failure when receiving VPA may have had a familial metabolic disorder. Familial metabolic disorders may account partly for the higher incidence of fatal hepatotoxicity described in infants receiving VPA.

Chemical and Drug Induced Liver Injury↗
PubMed1990

Neurodevelopmental outcome of transient neonatal intracerebral echodensities.

The later neurodevelopmental progress of 15 babies who had neonatal periventricular echodensities or flares in the absence of any intraventricular bleeding or subsequent cystic degeneration was studied. At follow up four infants had neurological abnormalities, including spastic diplegia (n = 2). These findings suggest that transient flares may represent mild periventricular leucomalacia with consequent mild neurological dysfunction.

Child Development↗
PubMed1990

Decline in head growth and cognitive impairment in survivors of acute lymphoblastic leukaemia.

Twenty five children in remission, who were asymptomatic and who had last been treated at least two years before for acute lymphoblastic leukaemia, were examined neurologically and neuropsychologically. Their treatment included early cranial irradiation (24 Gy or 18 Gy), intrathecal methotrexate, and systemic chemotherapy. One half of the children demonstrated a decline in head circumference centile, which occurred in all patients treated with 24 Gy and in those patients treated with 18 Gy under the age of 3 years. In those children whose head growth was reduced, performance was significantly impaired in neuropsychological tests designed to assess concentration and short term memory. These children also developed clinically important learning difficulties in the classroom. Minor neurological dysfunction was present in almost half of the entire group. These data suggest that the treatment employed to prevent central nervous system leukaemia (primarily cranial irradiation) has a deleterious effect on head and brain growth and intellectual function.

Adolescent↗
PubMed1990

Fetal and infantile hypertension caused by unilateral renal arterial disease.

Three children who presented with heart failure in infancy caused by severe hypertension as a result of unilateral renal arterial disease are described. One presented at 3 days of age with persistent fetal circulation and heart failure. He had abnormal great vessels that indicated that the hypertension was of long standing and therefore fetal; this has not been described previously. The other two children failed to thrive because of unrecognised hypertension and subsequently presented with heart failure. All three underwent unilateral nephrectomy which cured their hypertension, and all were thriving at the time of writing. The benefits of nephrectomy outweighed the operative risks and loss of renal function. Blood pressure should be measured in children who are failing to thrive as part of routine clinical practice.

Cardiac Output, Low↗
PubMed1990

Cranial hemihypertrophy and neurodevelopmental prognosis.

Three cases of congenital cranial hemihypertrophy are described. CT or ultrasound scans showed unilateral cerebral enlargement with dilatation of the ipsilateral ventricle. Seizures occurred in two patients and the neurodevelopmental outlook appears poor. These patients represent a poor prognosis subgroup of the congenital hemihypertrophies.

Brain↗
PubMed1989

Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.

We describe a 16-month-old girl with Joubert's syndrome (JS), congenital ocular fibrosis, and histidinemia. Abnormal respiration, ptosis, and minimal eye movements were observed in the neonatal period. Intraoperative examination of the eyes later demonstrated severely restricted eye movements and abnormal insertions and fibrosis of the extraocular muscles. Computed tomography of the head revealed absence of the corpus callosum and brain stem. Histidine levels were elevated in the blood, urine, and cerebrospinal fluid. The patient was ataxic and developmentally delayed. To our knowledge, the association of JS with congenital ocular fibrosis has not previously been described. This report indicates that jerky eye movements are not an invariable finding in JS.

Ataxia↗
PubMed1989

Complex partial status epilepticus associated with cyclosporin A therapy.

Significant neurotoxicity including seizures, encephalopathy and coma may complicate the use of cyclosporin A (CyA). Two patients are described, receiving CyA, who presented with abnormal behaviour, stupor, focal motor activity and were shown to be in complex partial status epilepticus (CPSE). Abnormalities of behaviour and/or stupor in patients receiving CyA may be a manifestation of CPSE. Patients receiving CyA who develop an encephalopathy should have electroencephalography performed at the time of the abnormal behaviour.

Adult↗
PubMed1988

Objective assessment of muscle strength in chronic relapsing dysimmune polyradiculoneuropathy.

Chronic, relapsing dysimmune polyradiculoneuropathy is an uncommon disease which occasionally affects children. The relapsing-remitting and/or progressive symptoms may be refractory to treatment. Regular, objective assessment of muscle strength, visually displayed, facilitates knowledge of the natural history of the disease and predicts response to treatment, and thus optimum planning for treatment. Myometry, discussed in this report, appears to be an objective and useful technique for this purpose, as illustrated in two teenage girls with this disease.

Adolescent↗