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Biomedical subjects

G P Hosking

Publications and source records attributed to G P Hosking.

At least 19 recordsLinked to original sources
PubMed1994

Juvenile neuronal ceroid-lipofuscinosis: developmental progress after supplementation with polyunsaturated fatty acids.

Six patients with juvenile neuronal ceroid-lipofuscinosis (NCL) who were demonstrated to have abnormally low levels of membrane phospholipids were treated by dietary supplementation with polyunsaturated fatty acids (PUFAs) for periods ranging from 4 years 10 months to 7 years 3 months. Annual evaluations of intelligence and fine motor ability were undertaken while on supplementation. Mental development remained stable in most subjects throughout this period; fine motor function and vision were stable in the two youngest subjects only. These data suggest that PUFA supplementation may arrest the natural course of juvenile NCL if treatment is started early. A larger, multicenter, controlled trial is warranted.

Adolescent↗
PubMed1990

Decreased erythrocyte and platelet phospholipids and fatty acids in juvenile neuronal ceroid-lipofuscinosis (Batten disease).

Total cellular and phospholipid fatty acids were analyzed in erythrocytes and platelets from six patients with juvenile neuronal ceroid-lipofuscinosis (Spielmeyer-Vogt, Batten disease, JNCL). The results were compared to those of age-matched controls. The amounts of total fatty acid and the phospholipid classes, phosphatidylcholine (PC), phosphatidylethanolamine (PE), and phosphatidylserine (PS) were significantly decreased in patients when related to cellular protein. The reductions in total fatty acids were 27% in erythrocytes and 50% in platelets. Erythrocyte PC reduction was 36%, PE was 44% and PS 27%. There were no major qualitative differences in the phospholipid fatty acids, suggesting that the fatty acid composition of the reduced phospholipid was normal, and that there is a generalized phospholipid deficiency in these cells in JNCL. This was not related to nutritional status. The pathogenesis of Batten disease may be related to abnormal membrane function resulting from this marked phospholipid deficiency.

Adolescent↗
PubMed1988

Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease).

Five patients with juvenile neuronal ceroid-lipofuscinosis, who were shown to have absent or reduced serum prebetalipoprotein and a deficiency of polyunsaturated fatty acids in erythrocyte membrane lipids, were treated for a period of one year with supplements of fish oil extract (rich in omega-3 fatty acids) and encouraged to increase dietary intake of corn oil lipid (rich in omega-6 fatty acids) in an attempt to promote incorporation of these fatty acids into membranes. After one year there was a significant increase in omega-3 fatty acids (P less than 0.05) and in the total polyunsaturated fatty acids (P less than 0.02) in erythrocyte membranes but no change in the incorporation of omega-6 fatty acids. The patients were assessed clinically, psychometrically and neurophysiologically before and after the supplementation. No significant changes were noted after one year of treatment.

Adolescent↗
PubMed1988

Molybdenum co-factor deficiency: an easily missed inborn error of metabolism.

A female patient is described with combined deficiency of sulphite, zanthine and aldehyde oxidase. She presented at the age of four weeks with intractable seizures. Initially the diagnosis was suspected because of a very low serum urate level (23 mumol/1-1). This condition can be easily missed and it is proposed that measurement of serum urate be included in the metabolic assessment of neonates with unexplained seizures and developmental delay.

Aldehyde Oxidase↗
PubMed1985

Urinary sediment dolichol excretion in patients with Batten disease and other neurodegenerative and storage disorders.

Nonesterified dolichols have been measured in the urinary sediment of 20 patients with the late infantile and juvenile forms of neuronal ceroid lipofuscinosis (Batten disease), in 15 patients with other storage and neurodegenerative disorders and in 10 control subjects. Dolichols were measured by a high performance liquid chromatographic method and were related to urinary creatinine concentration. The levels of dolichols in Batten disease were not significantly elevated when compared to the normal subjects or to patients with other neurodegenerative disorders. The highest levels seen were in two patients with mucopolysaccharidosis types II and IV, respectively. Measurement of dolichols in urinary sediment is of little value in the diagnosis of Batten disease or in furthering our understanding of the underlying primary defect.

Adolescent↗
PubMed1984

Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation.

A severely mentally retarded boy with two normal siblings was persistently found to excrete elevated amounts of 3-hydroxybutyrate and acetoacetate. Enzyme analysis in cultured fibroblasts revealed a probable deficiency in cytosolic acetoacetyl-CoA thiolase which was about half the control activity with normal mitochondrial thiolase activities. Treatment with reduced dietary fat was initiated and a rapid reduction of the ketosis to biochemical normality was demonstrated. Shortly after initiating dietary treatment he presented with severe gastrointestinal problems and the histological features of colitis cystica superficialis. This appeared to respond to intravenous hydrocortisone therapy with an apparent complete recovery.

Acetyl-CoA C-Acetyltransferase↗
PubMed1983

Pertussis: should we immunise neurologically disabled and developmentally delayed children?

A total of 400 children with neurological disorders were studied to ascertain whether they had been immunised against pertussis, the reasons for non-immunisation, and the "validity" of these reasons, as judged by interpretation of the recommendations of the Department of Health and Social Security. The results for this group were compared with those for a group of 400 aged matched controls. The study group had a significantly lower rate of immunisation than controls (p less than 0.01); rates for both groups fell sharply after 1975. A total of 192 study patients and 186 controls were not immunised. Those children with cerebral palsy had the lowest rate of immunisation (19%) and the highest number of valid reasons for non-immunisation (63%). Paediatricians apparently advised against immunisation in 61 (32%) of the index group but in only four (2%) of the controls. The risk of serious neurological handicap after pertussis immunisation is small and there is little evidence to support the view that underlying neurological disease predisposes a child to increased risk. The advice currently given by paediatricians may need to be reconsidered.

Attitude to Health↗
PubMed1978

Central and peripheral fatigue in sustained maximum voluntary contractions of human quadriceps muscle.

1. The fatigue of force that occurs during the first 60 s of a maximum voluntary contraction of the human quadriceps has been examined by comparing the voluntary force with that obtained by brief tetanic stimulation at 50 Hz in nine healthy subjects. In three subjects the voluntary force declined in parallel with the tetanic force whereas in the remainder it fell more rapidly, suggesting that central fatigue was present. 2. For those subjects who showed little or no central fatigue, surface electromyograph (EMG) activity remained approximately constant while the force declined by about 60%. In the others, EMG activity and force declined in parallel but when an extra effort was made the subjects could briefly increase their force and this was accompanied by a proportionately greater increase in EMG activity (generally up to the original value). 3. It is concluded that in sustained maximum voluntary contractions of the quadriceps (a) central fatigue may account for an appreciable proportion of the force loss, (b) surface EMG recordings provide no evidence that neuromuscular junction failure is the limiting factor determining the loss of force in this muscle.

Adult↗
PubMed1978

Tests of skeletal muscle function in children.

The contractile properties of a large proximal muscle (quadriceps femoris) and a small distal muscle (adductor pollicis) have been measured in normal children and children with neuromuscular disorders. The method of stimulating the quadriceps femoris to contract, previously evaluated in adults, was found to be acceptable to children. In normal children a number of indices of muscle function were found to be similar to those in adults. A small study of the function of the adductor pollicis using supramaximal stimulation of the ulnar nerve was carried out in boys with Duchenne dystrophy. Decreased contractile force and prolonged relaxation times from a tetanic stimulation were noted in both the proximal and distal muscles of the boys with Duchenne dystrophy.

Adolescent↗
PubMed1978

Ataxia telangiectasia. Evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test.

The sensitivity to x-ray inactivation of cultured skin fibroblasts from clinically confirmed and suspected cases of ataxia telangiectasia was compared with that of cultures from normal subjects. The results confirm previous observations of an association between ataxia telangiectasia and enhanced in vitro radiosensitivity, and also suggest that clonal survival of x-irradiated cultures of skin fibroblasts is a valuable technique for confirming the diagnosis of the disease.

Adolescent↗
PubMed1978

Alternating hemiplegia: complicated migraine of infancy.

Alternating hemiplegia in children is a rare form of "complicated" migraine. There are a number of similarities to seizure disorders and correct diagnosis may prove difficult. The clinical features of 6 patients with alternating hemiplegia are presented together with the results of electrophysiological, radiological, and biochemical studies. While there were a number of clinical similarities between the patients, extensive investigations failed to demonstrate significant abnormalities. Although a diagnosis of a seizure disorder was suggested at some time in all of the patients, in only 2 was it certain there was a fit. Headaches occurred in the eldest patient (although not always with a hemiplegic attach) while in the younger patients misery often accompanied their attacks. Intellectual status was impaired in 5 patients, although in 2 of these the cause was most likely to be perinatal difficulties. Response to various forms of treatment was generally not encouraging and concern is expressed that this alternating hemiplegia of childhood may carry an unfavourable prognosis.

Adolescent↗
PubMed1978

Familial neurodegenerative disorder associated with raised urinary vanillylmandelic acid.

We report a child who presented with a progressive neurological disorder associated with hypertension and paroxysms of irritability and sweating in whom an abnormality of catecholamine metabolism or excretion was demonstrated. An elder sister died at the age of 2 1/2 years with similar clinical symptoms but without blood pressure or catecholamine excretion being recorded. The exact mechanism of the disturbance of catecholamine excretion was not identified in our patient but some slight improvement in hypertension and arrest of his neurological deterioration was noted when he was put on a low tyramine diet. It is suggested that our patient may well suffer from a familial neurodegenerative disorder in which an abnormality of catecholamine metabolism or excretion is a feature.

Humans↗