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Biomedical subjects

M Badenhorst

Publications and source records attributed to M Badenhorst.

12 recordsLinked to original sources
PubMed1987

Female carriers of Duchenne muscular dystrophy: a dilemma.

In this paper female non-identical twins of a known Duchenne carrier are presented; one has typical features and the anticipated progression of Duchenne dystrophy, the other appears to be normal. In addition, two female children with Duchenne-like dystrophy are discussed. These cases show no evidence of translocation or mosaicism and offer an opportunity to reappraise the genetics of Duchenne dystrophy with specific regard to females. The subjects have been fully investigated, and in Case 3 the glycolytic enzymes and mitochondrial energy-producing capacity were also studied.

Adolescent↗
PubMed1986

No abnormal low molecular weight proteins identified in human malignant hyperthermic muscle.

There is no single, simple diagnostic test available to enable identification of malignant hyperthermia (MH) susceptible individuals. Recently, two novel low-molecular-weight proteins (15,000 daltons and 13,500 daltons) that were not present in normal muscle were identified in MH muscle and it was felt that this might eventually be of assistance in diagnosing MH. The authors of this report have been unable to verify these results. Polyacrylamide gel electrophoresis of the soluble proteins from muscle of four MH-susceptible and four normal individuals showed no differences in the electrophoretic fractionation patterns. Therefore, the authors conclude that the differences in protein composition previously reported in MH muscle are not characteristic of this syndrome.

Biopsy↗
PubMed1986

Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures.

An adult patient with lysosomal acid alpha-glucosidase deficiency was fully investigated, and then placed on various forms of therapy with favourable response to a high protein, low carbohydrate diet. The rationale for the employment of this therapy, the problem of acid maltase deficiency and the relationship to weakness and glycogenosome formation with accumulation or otherwise of glycogen within the muscle fibres is discussed.

Adult↗
PubMed1977

An obscure inherited neuropathy characterized by pain and weakness.

Two brothers with inherited muscular atrophy and particular proneness to painful limbs are described. Symptoms of disease began at an early age with severe pains in the extremities. The pain is particularly aggravated by heat or fever and over the years has been associated with progressive muscular atrophy and sensory loss. A prominent feature of biopsy specimens was the tomaculous swellings which affected the myelin of the nerve axon and the motor nerve terminals.

Adolescent↗
PubMed1977

Peripheral neuromuscular changes in Parkinson's disease.

The muscle, nerve terminal and end plates of 3 patients suffering from idiopathic Parkinson's disease have been studied electrophysiologically, histologically, histochemically and electron microscopically. No characteristic neuromuscular features of parkinsonism were discernible. Four additional patients suffering from idiopathic parkinsonism complicated by diabetes, myasthenia gravis and spinal atrophy were also studied.

Aged↗
PubMed1977

The muscles in club foot--a histological histochemical and electron microscopic study.

In talipes equino-varus the diminished bulk of the calf muscle suggests a neuromuscular defect. Accordingly, biopsies were taken from the postero-medial and peroneal muscle groups, and occasionally from abductor hallucis, in sixty patients mostly under the age of five years; 111 were studied histochemically and histologically, and a further fifty-three by electron-microscopy. Histochemical anomalies were revealed in ninety-two specimens; the muscle fibres in the other nineteen varied in size but were abnormal at the ultramicroscopic level, as were all specimens examined with the electron microscope. Evidence of neurogenic disease was seen in most instances and was more obvious in the older patients. The pattern of abnormality was similar in both muscle groups. It is thought that shortening of the postero-medial muscles may result from a small increase of fibrosis due to minor innervation changes occurring in intra-uterine life. There is evidence that immobilisation, stretching or relaxation of muscles does not account for the anomalies observed. This study of the extrinsic muscles in talipes equino-varus indicates a dominant neurogenic factor in its causation.

Biopsy↗
PubMed1976

Weakness associated with the pathological presence of lipid in skeletal muscle: a detailed study of a patient with carnitine deficiencey.

A patient with muscular weakness demonstrating pathological lipid accumulation and abnormal mitochondria in skeletal muscle has been studied. The lipid accumulation and mitochondrial changes are thought to be related to the established deficiency of carnitine in this patient's muscle. The symptoms of muscular weakness associated with lipid accumulation in the skeletal muscle in the absence of complaint of muscle cramps or myglobinuria are thought to be diagnostic of carnitine deficiency. The failure of the sarcoplasmic reticulum to accumulate Ca2+ is discussed. The patient's strength responded dramatically when propranolol was added to his steroid therapy.

Adult↗
PubMed1975

'Picture frame' fibres in a carrier of the trait for malignant hyperpyrexia.

A member of a family which was known to be susceptible to malignant hyperpyrexia, who was identified as a carrier by the presence of an elevated serum creatine-phosphokinase, has been investigated further. Muscle was examined biochemically, and the study included the sarcoplasmic ATPase-activity, actinomycin, Mg2+ ATPase activity, ATP, phosphocreatine and glucose-6-phosphate. In addition, the calcium uptake by the sarcoplasmic reticulum was studied. The histochemical analysis of the muscle revealed the presence of a new fibre type characterised by a dense rim of ATPase activity, which gives the impression of a 'picture-frame'. Ultramicroscopic study revealed changes in the mitochondria and areas of myofibrillar disruption with swelling of the sarcoplasmic reticulum.

Adenosine Triphosphatases↗
PubMed1975

Xanthine, hypoxanthine and muscle pain. Histochemical and biochemical observations.

A suspected case of xanthine oxidase deficiency has been further investigated. The patient complained of arthralgia and myalgia. Further studies included histochemical and ultramicroscopic analysis of muscle sarcoplasmic reticulum, and biochemical studies. High levels of xanthine and hypoxanthine were found, while uric acid was absent in the muscle extracts.

Adenosine Triphosphatases↗
PubMed1975

Predictive tests for malignant hyperpyrexia.

Four carriers of the abnormal trait for malignant hyperpyrexia have been studied to determine the value of the various methods of carrier detection. Tests included enzyme estimations, histochemistry, electronmicroscopy, biochemistry and in vitro exposure of muscle strips to halothane. By combining these procedures it is possible to detect all the asymptomatic carriers of this disease.

Adenosine Triphosphatases↗
PubMed1975

Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.

Two patients suffering from central core disease are presented. The condition is associated with musculoskeletal abnormalities which have been traced back over five generations. In addition to the typical histochemical findings, electronmicroscopic study has revealed the presence of both structured and non-structured cores in adjacent areas. The calcium uptake by the sarcoplasmic reticulum was reduced to one-third of normal. Phosphorylase activity was normal in the one case and reduced to 63% in the other. Actomyosin Mg2+-activated ATPase activity was decreased, as was the Ca2+-dependent ATPase of the sarcoplasmic reticulum.

Adenosine Triphosphatases↗