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Biomedical subjects

S Carpenter

Publications and source records attributed to S Carpenter.

At least 235 records · Page 13Linked to original sources
PubMed1975

The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.

An 11-year old boy had had recurrent episodes of hepatic and cerebral dysfunction and underdeveloped musculature. Overt weakness developed at age 10. Lipid excess, especially in type I fibers, was found in muscle. Hypertrophied smooth endoplasmic reticulum and excessive microbodies were present in liver. Marked carnitine deficiency was shown in skeletal muscle, plasma, and liver. Ketogenesis was impaired on a high fat diet, but omega oxidation of fatty acids was enhanced. There was excessive glucose uptake and essentially no oxidation of labeled long-chain fatty acids by perfused forearm muscles in vivo. Oral replacement therapy restored plasma carnitine levels to normal, but not liver or muscle carnitine levels, and was accompanied by clinical improvement.

Adenosine Triphosphatases↗
PubMed1975

The motor unit profile in two experimental chronic myopathies.

The motor unit profile of the rat soleus muscle has been studied in two types of experimentally induced chronic myopathy. Tetrabenazine administered for 6 weeks resulted in a moderate myopathy characterized by necrosis, regeneration, and hypertrophy of muscle fibers. This model was associated with a normal motor unit count. The twitch tension of the muscle remained normal, presumably because of hypertrophy of some of the soleus muscle fibers; however, tetanic tension was reduced. The twitch time to peak became very prolonged. Another myopathy, characterized only by regenerating muscle fibers, was produced 6 weeks after abdominal aortic ligation. In this model, the soleus motor unit count was also normal. Twitch and tetanic tensions were reduced, and the contraction time was prolonged. The findings are discussed in relation to the motor unit profile reported in human neuromuscular diseases.

Animals↗
PubMed1975

Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis.

Three syndromes are presented in which major midline malformations of the central nervous system were associated with characteristic somatic and neurologic features in 2 or more sibs. The malformations may be suspected on clinical grouds but require confirmation by pneumoencephalography. In 3 French-Canadian sibships from the Saguenay-Lac St. Jean area of Quebec, patients with areflexia, muscular wasting and slowly progressive weakness in a paraparetic distribution were proved to have agenesis of the corpus callosum and anterior horn-cell disease, a syndrome not previously described. In another family, mental retardation, ataxia and episodic hyperpnea were associated with agenesis of the cerebellar vermis in 4 sibs. In yet another French-Canadian family, atrophy of the cerebellar vermis was associated with mental retardation, ataxia and a mild pyramidal syndrome. Because malformations of this nature are usually considered sporadic or multifactorial in origin, recognition of these specific clinical syndromes with probable autosomal recessive inheritance is important from the point of view of genetic counseling and prevention.

Agenesis of Corpus Callosum↗
PubMed1974

Lafora's disease: peroxisomal storage in skeletal muscle.

A 17-year-old patient had myoclonic epilepsy caused by Lafora's disease. Biopsy showed polysaccharide accumulations within membrane-bound spaces in skeletal muscle cells. Some of the accumulations were morphologically similar to Lafora bodies as they have been seen in the brain. The histochemical reactions of these membrane-bound spaces suggested that they were peroxisomes. Polysaccharide accumulations also were demonstrated in hepatic cells, where they probably were located in the endoplasmic reticulum. Lafora's disease can be diagnosed by histochemical and electron microscopic study of skeletal muscle.

Adolescent↗