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Biomedical subjects

M Swash

Publications and source records attributed to M Swash.

At least 235 records · Page 13Linked to original sources
PubMed1983

Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy.

Two healthy men with McLeod syndrome, a rare X-linked recessive phenotype characterized by acanthocytosis and weakened red blood cell antigenicity in the Kell blood group system, have been investigated. Both men showed raised blood creatine kinase levels, with myopathic EMG abnormalities. Biopsies of the quadriceps muscle showed the features of an active myopathy although there was no clinical evidence of muscular abnormality. The combination of the association of membrane abnormalities in red blood cells and a myopathy in both McLeod phenotype and Duchenne muscular dystrophy suggests that these syndromes may be due to related genetic abnormalities. The genetic locus for McLeod phenotype is situated near the end of the short arm of the X chromosome. The locus for Duchenne muscular dystrophy is unknown but it has been postulated that it is also situated on the short arm of the X chromosome at Xp 21. The occurrence of a subclinical X-linked myopathy with acanthocytosis (McLeod phenotype) thus raises the possibility of a new approach to genetic investigations in Duchenne muscular dystrophy, and in the related milder forms of this disease.

Acanthocytes↗
PubMed1983

Quadriceps myopathy: a variant of the limb-girdle dystrophy syndrome.

The clinical and pathological features in a patient with quadriceps myopathy are presented. The pattern of progression of the disorder, during a period of 18 years observation, suggests that it represents an unusual and perhaps specific syndrome within the clinical spectrum of the limb-girdle muscular dystophies.

Humans↗
PubMed1982

The pelvic floor musculature in the descending perineum syndrome.

We have studied 20 patients with the descending perineum syndrome, half of whom were incontinent of faeces. Objective criteria were established in 103 control subjects for determining the relationship of the perineum to the bony pelvis. The anal reflex latency was increased in the 10 patients in whom perineal descent was associated with faecal incontinence, but not in the 10 without incontinence. However, there was hypertrophy of the muscle fibers in external anal sphincter muscle biopsies in all the patients. Thus, abnormal degrees of perineal descent are associated with changes in the external anal sphincter muscle, consistent with damage to its nerve supply.

Adult↗
PubMed1982

A longitudinal study of changes in motor units in motor neuron disease.

In a longitudinal investigation of 14 patients with motor neuron disease motor units were studied in the biceps and first dorsal interosseous muscles in both arms, using single fibre EMG. The fibre density usually increased initially and this was occasionally accompanied by temporary improvement in strength. Later, as the fibre density decreased, increasing weakness and atrophy developed. The fibre density was rarely as high at any stage of the disease as in other chronic neurogenic disorders. Marked asymmetry was observed in individual patients at all stages of the disease.

Adult↗
PubMed1982

A neurogenic factor in faecal incontinence in the elderly.

Idiopathic faecal incontinence in middle-aged people has been found to be commonly associated with neurogenic damage to the anal sphincter musculature. Because neurogenic atrophy of skeletal muscle is a common feature of ageing, we have investigated the possibility that faecal incontinence in elderly people might be due to age-related denervation of the anal sphincter musculature. The technique of single fibre electromyography was used to measure the motor unit fibre density in the external and sphincter muscle in ten patients aged 78 to 99 years. Those patients whose continence was impaired had a markedly increased fibre density. Our findings suggest that neurogenic damage to the anal sphincter musculature may so reduce its functional reserve in elderly people that incontinence occurs when other factors, such as looseness of stool or depression of cerebral function, co-exist.

Aged↗
PubMed1982

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

We describe two patients with mitochondrial myopathies who presented with complex multisystem diseases predominantly affecting the central nervous system. In both cases the disease ran a fluctuating clinical course, eventually leading to profound impairment of intellectual function. In Case 1 dementia was associated with optic atrophy, absent pupillary responses, impaired eye movements and generalized dystonic rigidity without evidence of weakness or loss of muscle bulk. In Case 2 myoclonus preceded the onset of ataxia, generalized weakness and mental confusion by several years. Biochemical studies on isolated muscle mitochondria revealed defects in the mitochondrial respiratory chain which were located at NADH-CoQ reductase in Case 1, and at cytochrome b in Case 2. This study illustrates the potential value of muscle biopsy in the diagnosis of unusual and otherwise unexplained cerebral syndromes in man, even in the absence of muscle weakness.

Biopsy↗
PubMed1982

Pattern of involvement in the cervical segments in the early stage of motor neurone disease: a single fibre EMG study.

The right and left biceps and first dorsal interosseous muscles of 22 patients with motor neurone disease were studied by single fibre EMG at the time of diagnosis. The mean duration of symptoms was 8.1 months. The fibre density was increased in 87 of the 88 muscles studied. In the first dorsal interosseous muscles the fibre density was increased similarly on both sides, but in the biceps muscles of normal strength the fibre density was more markedly increased on the left than on the right. These findings suggest that in the early stage of the disease certain motor unit pools in the spinal cord are preferentially affected.

Action Potentials↗
PubMed1982

Early and late components in the human anal reflex.

Perianal electrical stimulation induces reflex activity in the superficial part of the external anal sphincter muscle. Several components of differing latency can be recognised. It is suggested that these correspond with the ripples of contraction observed clinically after perianal scratch stimuli. Some of our earlier studies suggested an erroneously short latency for the first component of this cutaneously-elicited reflex. The reasons for this are discussed.

Anal Canal↗
PubMed1982

Chronic perianal pain: an unsolved problem.

Thirty-five patients with chronic anal pain of obscure origin are described. This syndrome is ill-defined and treatment is unsatisfactory. There is a high incidence of sciatica and of damage to the pelvic floor musculature, but although the pain has features consistent with a neuralgia, its cause is unknown.

Adult↗
PubMed1981

Epileptic dizziness.

Clinical and electroencephalographic features and the response to treatment of 30 patients with episodic dizziness due to epilepsy were noted. The symptom consisted of a brief episode of disequilibrium, often with a sensation of rotation, without evident precipitating factors or sequelae. A history of "absences" or other features suggestive of temporal lobe epilepsy was elicited in over half the patients, and seven (almost a quarter) had had one or more generalized seizures before presentation. Electroencephalography showed a posterior temporal lobe focus in all but two patients, and there was a family history of epilepsy in six. Response to treatment with phenytoin or carbamazepine was good in most patients. Epilepsy should be considered in the differential diagnosis of episodic dizziness or vertigo, especially in young people.

Adolescent↗
PubMed1981

Electrophysiological study of motor nerve supply of pelvic floor.

Direct stimulation of a branch of the sacral nerves which lies above the pelvic floor and electromyographic recording of activity in the muscles of the pelvic floor showed that this nerve supplied the puborectalis muscle in 19 of the 20 nerves studied in 16 patients. Similar results were obtained when this nerve was stimulated in 2 patients undergoing anterior resection of the rectum. The pudendal nerve was also directly stimulated in 3 patients and found to supply only the ipsilateral external anal sphincter muscles. These findings suggest that the motor nerve supply of the important muscle of continence usually lies above the pelvic floor and not below it as previously believed.

Electromyography↗
PubMed1981

Hand wasting in spondylotic high cord compression: an electromyographic study.

Conventional and single-fiber electromyographic studies in two patients with a wasted hand associated with spondylotic narrowing of the spinal canal at C3-4 and C5-6 revealed changes that were most severe in the hand muscles (C8, T1) and moderately severe in the extensor digitorum communis (C7), but relatively spared the C5 and C6 myotomes. This gradation of abnormality within the cervical cord is consistent with stagnant hypoxia secondary to venous congestion.

Aged↗
PubMed1981

Physiological studies of the anal sphincter musculature in faecal incontinence and rectal prolapse.

The clinical, anorectal manometric and electrophysiological findings in 24 patients with faecal incontinence, 10 of whom also had rectal prolapse, and in 8 patients with rectal prolapse without incontinence, are reported. Single fibre electromyographic studies and anal reflex latencies were abnormal, indicating damage to the innervation of the pelvic floor musculature, in all the patients with faecal incontinence, with or without rectal prolapse. These studies were normal in 7 of the 8 patients in whom rectal prolapse occurred without incontinence. These investigations imply that denervation of the sphincter musculature can be recognized by electrophysiological tests in most patients with primary faecal incontinence and that the pathogenesis of rectal prolapse differed in the two groups of patients.

Action Potentials↗