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Biomedical subjects

M Saunders

Publications and source records attributed to M Saunders.

At least 127 records · Page 7Linked to original sources

Epilepsy in the British Steel Corporation: an evaluation of sickness, accident, and work records.

Information relating to sickness, accident, and work records in 45 people with epilepsy employed in the British Steel Corporation was obtained and compared with 38 matched control subjects. Fewer people with epilepsy were prepared to do shift work compared with controls, and prolonged absence from work due to sickness was more frequent in the epileptic group. There was no difference between the two groups in four out of five factors relating to job performance. Those in the epileptic group who had an associated personality disorder had significantly poorer job performance ratings.

Absenteeism↗

Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency.

Biotin responsive multiple carboxylase deficiency was suspected in a third trimester conceptus on the basis of enzymatic confirmation in fibroblasts cultured from an earlier sibling who suffered a demise in the immediate neonatal period. Maternal urinary organic acid profile was normal throughout the final 4 wk of pregnancy. Oral administration of biotin, 10 mg/day to the mother resulted in a 100-fold increase in urinary biotin excretion within 7 days. Urinary biotin excretion over the subsequent 2 wk decreased steadily, suggesting either decreased maternal absorption or increased fetal sequestration. After the birth of nonidentical twins, cord blood and urinary organic acid profiles of the infants were normal. However, cord blood biotin concentration was 4 to 7-fold that of normal newborns. Subsequent enzymatic and genetic complementation studies utilizing cultured skin fibroblasts from the infants demonstrated one of them to be affected by the multiple carboxylase defect, although he was clinically and biochemically normal throughout the neonatal period. Thus, prenatal therapy of this inborn enzymatic defect can be safely and effectively accomplished by administration of pharmacologic biotin doses in the last month of pregnancy.

Biotin↗

Chronic hypothermia following tuberculous meningitis.

A patient who developed chronic hypothermia following tuberculous meningitis is described. A central defect of thermoregulation was discovered, probably due to a discrete vascular lesion in the anterior hypothalmus.

Adult↗

An unusual case of visual perseveration.

A patient is described with an unusual type of visual perseveration caused by a right parietal infarct. The mechanism of visual perseveration is discussed with particular reference to the increased movement of the perseverated image which our patient described.

Aged↗

An investigation of operating theatre staff exposed to humidifier fever antigens.

Sixty staff working in a hospital operating theatre, where a case of humidifier fever had been identified, were studied together with 49 subjects working in other parts of the hospital. They each had a blood test for serology, a skin test, and a chest radiograph and completed a questionnaire. The theatre staff also had pulmonary function tests. The theatre humidifier was found to contain several organisms including amoebae and antigens cross-reacting highly with those implicated in previous outbreaks of humidifier fever. Of the 60 exposed subjects, 25 had developed antibodies, nine had probable symptoms of humidifier fever, and six possible symptoms. There was a strong association between symptoms and antibodies (p = 6 x 10(-5) by Fisher's exact test). The development of antibodies was also related to duration of exposure in the theatre (p less than 0.01 by X2 test for trend) and inversely to smoking (p = 0.0073 by Fisher's exact test) but not to history of atopy. Because of the presence of antigens and because certain biocides added were ineffective in controlling antigenic build-up the humidifier was switched off. Eight months later specific IgG levels in the theatre staff sera, estimated by an enzyme-linked immunosorbent assay technique, had fallen on average by 25%. Inhalation challenge with humidifier water was performed in eight subjects. Four subjects reacted to the challenge, including both those with antibodies and previous symptoms.

Air Conditioning↗

A unique case of musicogenic epilepsy.

Musicogenic epilepsy associated with spastic paraparesis, the latter probably secondary to multiple sclerosis, occurred in a patient. Detailed analysis of a variety of musical stimuli demonstrated consistent susceptibility to a particular popular tune. It is postulated that temporal lobe demyelination may be the etiological factor in this patient.

Adult↗

Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryons.

A whole-cell microtechnique for the determination of complementation of human metabolic disorders is presented. This procedure permits the isolation of individual multinucleate cells produced by cell fusion for the quantitative evaluation of complementation. Mutant fibroblasts with a deficiency of propionyl-CoA carboxylase activity (EC 6.4.1.3) that had been mapped to complementation groups pcc and bio were used to evaluate the microtechnique. Complementation was monitored by the determination of [14C]propionate incorporation into cellular macromolecules. Single cells or a small number of cells were isolated from plastic film dishes after radioactive incubation by cutting out the portion of the plastic film holding the desired cells. Isotope incorporation was linear in 10-50 unfused cells and in 10-50 fused normal cells containing five or more nuclei. There was also a direct correlation between the nuclear content of cells and the amount of isotope incorporated. Three pcc and two bio mutants were fused in pairwise combinations by means of polyethylene glycol and complementation was determined by isotope incorporation in sets of 50 multinucleate cells, each cell isolated individually. The results agreed with autoradiographic data for both complementing and noncomplementing strains. The method is quantitative and gives severalfold higher sensitivity than current procedures. The method can be applied to the complementation analysis of a wide variety of inherited disorders of intermediary metabolism.

Acyl Coenzyme A↗

Psychiatric illness in a neurological out-patient department in North East England. Use of the General Health Questionnaire in the prospective study of neurological out-patients.

342 patients referred to a neurological out-patient department in North East England between November 1975 and November 1976 were studied prospectively using two methods of psychiatric case identification, by clinical interview and by use of the General Health Questionnaire. The population of psychiatric patients identified by clinical techniques is different from that identified by the GHQ and it is concluded that GHQ cannot be used for routine screening in the neurological clinic. Clinical data were compared with a previous retrospective study. Clinical assessment revealed 27% with psychiatric disorders whilst GHQ showed a probable psychiatric morbidity of 48% with a cut off score of 11/12 and 21% with our best cut off score of 26/27. Statistical problems with this method are discussed and the results of this study compared with others using the same questionnaire. Aspects of organic and psychiatric disorder in a neurological clinic are discussed.

Adult↗

Lithium neurotoxicity.

The peripheral and central neurotoxic effects of lithium carbonate are illustrated by 4 case histories. Lithium neurotoxicity is likely to be more common than the literature suggests. Neurological sequelae may be irreversible and may be associated with therapeutic serum levels. Prevention may be facilitated by more stringent case selection, EEG and clinical monitoring and the development of improved methods of drug level assessment.

Adult↗

Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.

Fibroblast cultures from two individuals with biotin-responsive organicacidemia were found to have a pleiotropic deficiency of propionyl-CoA carboxylase, beta-methylcrotonyl-CoA carboxylase, and pyruvate carboxylase activities after growth in biotin limited culture medium, conditions which do not affect the carboxylase activities of normal cells. All three enzyme activities were restored to normal levels after transferring the mutant strains to biotin-rich medium. Both patients excreted abnormal levels of an array of metabolic intermediates, including beta-methylcrotonate, beta-hydroxyisovalerate, beta-hydroxypropionate, and lactate, which reflect metabolic blocks at all three carboxylase sites.14 mutants deficient in only propionyl-CoA carboxylase activity from patients with propionicacidemia and the two biotin-responsive strains were examined for complementation with seven previously mapped pcc mutants. No new pcc complementation groups were identified. Nine of the mutants were mapped to group pccA. The remaining 12 mutants mapped to pccBC or its B or C subgroups, confirming the complex nature of this group. The biotin-responsive mutants failed to complement each other but did complement mutants from all the pcc groups. Thus biotin-responsive organicacidemia is defined by a new complementation group, bio. The results obtained in this study suggest that the bio mutants have a defect of either biotin transport or a common holocarboxylase synthetase required for the biotin activation of all three mitochondrial carboxylases.

Acidosis↗

Unruptured intracranial aneurysms--an unusual source of epilepsy.

Six patients with epilepsy were found to have intracranial aneurysms, mainly in the middle cerebral territory. The mechanism of production of these presenting symptoms is considered to be a minor haemorrhage with localized destruction of brain, or calcification in the aneurysmal wall behaving as a hamartoma. In the differential diagnosis of factors causing epileptic attacks, an intracranial aneurysm should be considered, and its presence should be excluded by angiography before any blind surgical procedure for epilepsy is undertaken.

Adolescent↗