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Biomedical subjects

C A Boer

Publications and source records attributed to C A Boer.

3 recordsLinked to original sources

[Ewing's tests validation for autonomic dysfunction assessment].

The medical literature on the evaluation of autonomic dysfunction accumulated discordant results in the past decades, accentuating the need of validating the proposed tests. The Ewing's tests for studying autonomic abnormalities received increasing acceptance, as they recognize not only cardiovascular reflexes damage but lesions in any other segments of the autonomic nervous system. We proposed to validate them in our population by analysing their results on 30 normal individuals and 23 long-standing diabetics. Our results show that the five tests are highly sensitive and specific, reproducible, use simple and available office material, and fulfil their purpose.

Adolescent

[Myopathy due to carnitine palmitoyltransferase deficiency. Report of 2 cases with enzymatic analyses on muscle tissue].

We describe two brothers, 25 and 19 years-old, with muscle pain and decreased strength after prolonged exercise; these symptoms are worsened by cold whether of fasting. One of the patients developed recurrent myoglobinuria and had one episode of renal failure. Laboratory investigations were normal between the crises, but during myoglobinuria, serum creatine kinase activity increased 100 times. Electromyography was suggestive of denervation. Muscle biopsy showed increased lipid droplets by the "oil red O" stain and increased activity of succinic dehydrogenase histochemical reaction. Lactate production during ischemia was normal. Biochemical analysis showed decreased carnitine-palmityl-transferase activity in muscle (7.23 and 10.58 nmoles/min/gr; normal range 66.7 +/- 17.3), with normal values for carnitine-octanoyl-transferase and carnitine-acetyl-transferase. The metabolic pathway of fatty acid utilization as an energy source for muscle during exercise in normal and in pathological conditions is discussed.

Acyltransferases

[Tubular aggregates in a case of chronic proximal spinal atrophy].

The case of a 35 years-old man, with chronic proximal muscle atrophy in which at the muscle biopsy tubular aggregates were found by histochemistry procedures is reported. The tubular aggregates stained positive with the modified Gomori trichrome, haematoxylin-eosin, DPNH-diaphorase, non specific esterases, phosphorylase, P.A.S., oil red O and lactate dehydrogenase. They did not show in the routine and acid pre-incubated ATPase, acid and alkaline phosphatases and succinate dehydrogenase. Only found in type II fibers. A brief discussion about the pathogenesis and function of the tubular aggregates is made. The authors believe that the tubular aggregates in this case are secondary to prolonged use of phenobarbital and diphenylhydantoin, associated with the basic denervation process and alcohol abuse.

Adult