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Biomedical subjects

G Scarlato

Publications and source records attributed to G Scarlato.

At least 271 records · Page 15Linked to original sources
PubMed1978

The syndrome of carnitine deficiency: morphological and metabolic correlations in two cases.

Two cases of systemic carnitine deficiency are described. In both patients, carnitine concentration was lower than normal in serum and muscle tissue. In the first case, the illness began at age 35; the clinical manifestations were only muscular. In the second case, the illness began in childhood; there were intermittent episodes of hepatic enlargement and coma. An excessive lipid content was present in muscle tissue, especially in type 1 fibers, of both cases, and in the liver of the second patient. Ultrastructural studies of muscle tissue revealed important changes of mitochondria. During muscular exercise, aerobic and anaerobic metabolism were investigated. For a given relative work intensity, these patients showed abnormally high blood lactic acid concentration and lactic acid/pyruvic acid ratios. These data, together with the morphological alterations observed in mitochondria, suggest an impaired function of the respiratory chain, leading to a shift of the red/ox potential of the tissue towards a non reduced state.

Adult↗
PubMed1978

Morphologic and metabolic studies in a case of oculo-cranio-somatic neuromuscular disease.

A case resembling the syndrome of "ophthalmoplegia plus" or "oculo-cranio-somatic neuromuscular disease" is reported. A biopsy of deltoid muscle showed that 23% of the fibers were "ragged-red fibers" and were all type 1. Study of their ultrastructure revealed clusters of abnormal skeletal muscle mitochondria in subsarcolemmal and intermyofibrillar spaces. A liver biopsy also revealed a considerable increase in the number and size of the mitochondria. In some instances the mitochondria contained osmiophilic rounded inclusions surrounded by myelin-like structures. Metabolic studies revealed an increase of blood lactate concentration after very light exercise, while the O2 consumption was increased within the expected range. It is concluded that: a) the association of ophthalmoplegia and ultrastructural alterations of the mitochondria in muscle fibers may represent a specific nosographic entity: b) mitochondrial abnormalities are not limited to the skeletal muscles and c) the dysmetabolic basis of such a clinico-pathological entity might lie in an alteration of the mechanism which regulates the mitochondrial oxidative phosphorylation.

Adult↗
PubMed1977

Quantitative EMG and histological carrier detection of Duchenne muscular dystrophy.

Seventy-nine women known as, or suspected to be, carriers of the Duchenne type of muscular dystrophy were examined. The 15 known carriers had an estimation of the CPK serum level and a manual quantitative EMG, which gave the high detection rate of 93%. The 64 suspected carriers had CPK determination and quantitative EMG, or CPK and muscle biopsy, and the value of each technic is discussed. The problem of giving a reassuring answer to women considered to be possible carriers on genetic criteria, but who are not really carriers, is solved if the results of all three tests are negative.

Action Potentials↗
PubMed1977

Clonazepam in cranial neuralgias.

A study of 21 patients has shown that clonazepam is an effective drug in preventing attacks of pain in trigeminal neuralgia and Sluder's syndrome. It has also been shown that no side effects result from long-term prescription of this drug.

Adult↗
PubMed1977

A case of lipid storage myopathy with carnitine deficiency. Biochemical and electromyographic correlations.

Histochemical, biochemical and electromyographic studies were performed in a case of carnitine deficiency in serum and in muscle. Clinical features include proximal muscle weakness, predominant type I fiber impairment, excess of triglycerides and moderate glycogen accumulation in muscle. No abnormalities of palmityl CoA synthetase, carnitine palmityl transferase, carnitine acetyl transferase and lipase were evidenced. An interesting EMG decremental pattern was recorded. Correlations between electromyographic and biochemical findings are considered. A clinical improvement, a normal plasma carnitine level and a normal response at EMG repetitive stimulation were found after carnitine treatment.

Adult↗
PubMed1976

Quantitative electromyography in the detection of the carriers in Duchenne type muscular dystrophy.

The quantitative EMG technique was used to detect Duchenne muscular dystrophy carriers. The tests were carried out, measuring the parameters of M.U. potentials (the duration, the phase, and the 0 index according to Van den Bosch, modified by Gardner-Medwin), and using the Willison analyzer, in a group of carriers and normal subjects. Ten M.U. potentials from the deltoid, biceps brachii and quadriceps muscles were photographed and measured in each subject, and the right and the left biceps were examined with the Willison analyzer. An high detection rate was obtained by manual EMG, measuring traditional values such as mean number of phases, A.P. duration and 0 index. The Willison analyzer was significant in 2 known carriers. The total EMG detection rate was higher than the CPK tests both in the known carriers and the possible carriers. It is concluded that the quantitative EMG technique is an useful and specific test to detect carriers of the gene of Duchenne muscular dystrophy.

Action Potentials↗
PubMed1975

[Contribution of histochemistry to the classification of neuromuscular diseases].

For a long time after the first muscle biopsy performed on man by Bilroth in 1965, histological study of the muscle has been linked to out of date patterns of interpretation most of them without any importance for clinical diagnosis. The use of histochemical techniques in the study of muscle was introduced quite recently and consequently in the last 15 years it has been possible to collect an enormous amount of very important data for the clinical diagnosis of many neuromuscular disorders. The classification of muscle fibers into different types which was possible first of all using the myofibrillar ATPase reaction by Padykula and Hermann permitted pathological interpretation leading to specific correlations between histological and EMG results. Furthermore the use of different histoenzymological methods in the study of mitochondrial enzymes activity and of the enzymes for the glycogen breakdown and synthesis, promoted a more elaborate fibre typing system. Thank to the development of cryostatic microtomy, the above mentioned methods became easy to be performed in the laboratory routine work. The use of the cryostat, which allows a better preservation of muscular tissue, led to a more accurate diagnostic interpretation particularly in relation to morphology. The study of fiber typing revealed many alterations: single fiber type atrophy, type one or type two predominance, type grouping, hypertrophy of a single fiber type and so on, giving to the clinicians the possibility not only of a more elaborate pathogenetic interpretation, but also of a much more precise diagnosis than in the past. Important results have been achieved using the above mentioned histoenzymological methods in the study of the single muscle fibers. Anglo-Saxon Authors provided us with many significant terms, in order to point out alterations of the enzymes distribution within the single muscle fiber: moth eaten, target fiber, rods, central core, subsarcolemmal blebs. Some of these alterations, seen in specific neuromuscular disorders, still represent the only distinguishing feature of these disorders from the nosographic point of view. It is possible to assert without any doubts that in the last 15 years the use of histochemical methods in the study of human muscular tissue has allowed a nosografic classification of neuromuscular disorders very different from that in use before the histochemical age. Thanks to histochemistry the consequent diagnostic and therapeutic advantages have led to very interesting results in such an important field of Neurology.

Animals↗