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Biomedical subjects

D Gardner-Medwin

Publications and source records attributed to D Gardner-Medwin.

At least 73 records · Page 4Linked to original sources
PubMed1988

Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy.

Several patients with lipid storage myopathies have been described, although in most cases the biochemical defect is unclear. A child is reported who presented with severe muscle weakness at age six months. She had lipid storage myopathy due to glutaric aciduria type II. It is probable that her brother died from the same disorder at the age of three months. She has responded well to treatment with a low-fat diet, riboflavin, carnitine and glycine.

Carnitine↗
PubMed1988

Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia.

Children with ataxia telangiectasia have a high probability of developing acute lymphoblastic leukaemia, and have increased sensitivity to chemotherapy and irradiation. We report a 51/2 year old boy who had undiagnosed ataxia telangiectasia when he presented with acute lymphoblastic leukaemia. He subsequently developed a chemoradiation induced leukoencephalopathy after conventional central nervous system prophylaxis.

Ataxia Telangiectasia↗
PubMed1987

Angelman (happy puppet) syndrome in a girl and her brother.

We report a girl aged 11 and her brother aged five, both with the typical features of Angelman syndrome, and three isolated cases. This report, together with a review of published reports and contact with previous authors, has revealed a total of 41 sibs of probands, although only nine of these are known to have been later born. The possible effect of voluntary restriction of family size after the birth of an affected child is discussed in relation to the possibility of autosomal recessive inheritance, but a recurrence risk of 5% is appropriate for use in the genetic clinic.

Female↗
PubMed1986

A trial of flunarizine in the treatment of Duchenne muscular dystrophy.

Twenty-seven boys with Duchenne muscular dystrophy (DMD) entered a double-blind controlled trial of treatment with the calcium antagonist flunarizine. They were matched for age and disability. At monthly intervals, muscle power, functional ability, locomotor score, contractures, and forced vital capacity were measured by a team not involved in clinical care. Over a period of 1 year, flunarizine in a dose of up to 0.25 mg/kg/day had no effect on the clinical course of the disease.

Adolescent↗
PubMed1986

Neutrophil function in Duchenne muscular dystrophy.

Spontaneous migration, chemotactic and bactericidal activity and nitroblue-tetrazolium (NBT) reduction by neutrophils from patients with Duchenne muscular dystrophy were evaluated using quantitative techniques. Significant reductions in spontaneous migration and chemotaxis were found in the DMD group when compared with a control group of subjects. No significant differences were found in bactericidal activity or NBT reduction. The findings suggest that there is a defect in the contractile system or cell membrane function of neutrophils in DMD and that the genetic defect is expressed in leucocytes as well as other tissues.

Adolescent↗
PubMed1985

Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?

An unusual form of spinal muscular atrophy presenting with respiratory failure was observed in four infants from two families. In one, whose death was attributed to pneumonia, the diagnosis was inferred retrospectively after two siblings died from an identical illness and were shown to have diaphragmatic paralysis and the typical electrophysiological and histological features of spinal muscular atrophy. Other signs of skeletal muscular weakness were absent or inconspicuous. The fourth, unrelated infant presented in an identical way but has survived for over a year on a ventilator. Two months after the onset of respiratory paralysis, more extensive skeletal muscular weakness was seen. Other infants, dying of unexplained respiratory illness, may have this disorder and some may be included in the miscellany of disorders that constitute the sudden infant death syndrome.

Female↗
PubMed1984

Patterns of muscle fiber-type disproportion in hypotonic infants.

We studied the histochemical characteristics of muscle in five hypotonic infants. A number of different patterns of disproportion in the sizes and numbers of type 1 and type 2 fibers were found. In three cases, type 1 fibers were smaller than type 2 fibers and type 2b or 2c fibers were largest. In one case, type 2 fibers were smaller than type 1 fibers and were reduced in number, while in a case of Prader-Willi syndrome there was a preponderance of type 2 fibers that were smaller than type 1 fibers. Type 2c fibers were increased in number in all but one case. We postulate that these various patterns of fiber-type disproportion are the result of altered neural influences leading to impaired maturation of type 1 or type 2 motor units.

Adenosine Triphosphate↗
PubMed1984

Severe muscular dystrophy in girls.

Twelve girls and 2 boys with severe but not congenital muscular dystrophy were found in a national survey. An autosomal recessive gene is likely to account for most if not all of these cases. The condition differs slightly from X-linked Duchenne muscular dystrophy in showing prominent early toe-walking, a milder course, relatively more weakness of the deltoid muscles, normal intelligence, a normal ECG and a more focal pattern of muscle pathology.

Adolescent↗
PubMed1984

Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide.

Five males in one kindred suffered from intermittent ataxia and one female may have been more mildly affected. The pattern of inheritance strongly suggests X-linkage. Cerebral pathology in one case had some features of Leigh's disease. A defect in pyruvate metabolism was found in two cases. Acetazolamide gave a temporary clinical and biochemical improvement in two cases.

Acetazolamide↗
PubMed1984

HLA antigens and spinal muscular atrophy.

Fifty-four patients with spinal muscular atrophy were examined and HLA typing performed on blood from each. A, B and DR antigens were determined. No statistical difference in antigen prevalence was found between patients and a control population. The clinical and genetic heterogeneity found in this disorder does not appear to be related to HLA status.

Adult↗
PubMed1983

Interviews with parents of boys suffering from Duchenne muscular dystrophy.

Parents from 53 families of boys with Duchenne muscular dystrophy were interviewed to explore their reactions to the diagnosis and the effects of the disease on family life. The findings are discussed in terms of the problems reported by the parents, their experiences at the time of diagnosis, their views on neonatal screening, the effects on the marital relationship, on siblings and on the affected boys themselves, and the parents' need for better information about the disorder.

Adolescent↗
PubMed1981

Carrier testing in families of isolated cases of duchenne muscular dystrophy. Creatine kinase activities in female relatives of mothers with normal CK activity.

A study of the serum creatine kinase (CK) activity in the female relatives of mothers of isolated cases of Duchenne muscular dystrophy (DMD) was undertaken.. It was restricted to the relatives of mothers with normal serum CK values. Ninety-eight females in 19 families were studied; none was found to have a serum CK activity more than 3 SD above the normal mean. This evidence, derived from a study in which the measurement of serum CK activity was used as the sole means of detecting carriers, suggests that very few distant female relatives in such families are carriers of the gene and provides some evidence against the hypothesis that mutation is a rare cause of isolated cases of Duchenne muscular dystrophy.

Adolescent↗
PubMed1980

Congenital myotonic dystrophy: fiber type abnormalities in two cases.

Histometric data on muscle fiber types were studied in two cases of congenital myotonic dystrophy (CMD); one underwent biopsy at the age of 5 months and the other at the age of 10 years. A previously unreported severe deficiency of type IIB fibers were found in both cases. In addition, in the first case, there was type I fiber preponderance and hypotrophy as described in cases of congenital fiber type disproportion (CFTD). It is suggested that an abnormality of motor unit maturation may be common to CMD and to CFTD, and that this results from a disorder of neural trophic influences during muscle development.

Child↗
PubMed1980

Adrenergic receptor responses of vascular smooth muscle in Becker dystrophy. A muscle blood flow study using the 133Xe clearance method.

The effect of intravenous adrenaline and of alpha and beta blockade on muscle blood flow in the tibialis anterior muscle of 8 normal subjects and 8 patients with the Becker form of X-linked muscular dystrophy has been assessed using the 133Xe clearance method. Whereas beta receptor responses to stimulation by adrenaline and blocking by propranolol did not differ significantly in the Becker patients and normal controls, the degree of alpha receptor blockade produced by phentolamine was significantly less in the Becker patients, suggesting a quantitative or qualitative abnormality of vascular alpha receptors. This pattern of response was not found in patients with spinal muscular atrophy or polymyositis. The possible significance of these findings is considered.

Adult↗