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Biomedical subjects

C Cerri

Publications and source records attributed to C Cerri.

14 recordsLinked to original sources
PubMed1979

Progressive extrinsic ophthalmoplegia with peripheral neuropathy and storage of muscle glycogen.

A case of progressive extrinsic ophthalmoplegia associated with peripheral neuropathy and hypertriglyceridemia type IV is described. Motor and sensory conduction velocities of the spinal nerves were severely decreased, while the EMG of the facial muscles was more suggested of a myopathic disorder. Electron microscopic study of biopsies of biceps and peroneus brevis muscles disclosed many ragged red fibers, mainly type I, which contained typical abnormal mitochondria. Other fibers, all type II, contained increased amounts of glycogen between myofibrils or beneath the sarcolemmal membrane, but the mitochondria were normal. These fibers were more abundant in the peroneus brevis than in the biceps muscle. Nerve biopsy revealed marked loss of myelinated fibers, but neither mitochondrial changes nor glycogen storages were evident in Schwann's cells. Biochemical investigations confirmed the increased amount of glycogen in both muscle biopsies and revealed a decrease of guanilcyclase. Phosphorylase, phosphorylase b kinase, adenilcyclase, and carnitine concentrations were all normal. The pathogenesis of this syndrome is discussed and the relationship between mitochondrial abnormalities and glycogen accumulation in muscle tissue are considered.

Adult↗
PubMed1979

Cyclic nucleotide phosphodiesterase activity in muscle of patients with carcinoma.

Cyclic nucleotide phosphodiesterase activity has been measured in muscle biopsies taken from healthy controls and from cancer patients. In both groups the muscles were clinically and morphologically normal. The phosphodiesterase activity was significantly increased in muscles from cancer patients using both cyclic AMP and cyclic GMP as substrate. These findings are in line with previous reports indicating that malignancy may interfere with metabolism of the host muscular tissues, and suggest the possibility that the observed biochemical changes might be an aspect of an early muscle neurogenic involvement.

2',3'-Cyclic-Nucleotide Phosphodiesterases↗
PubMed1978

Muscular carnitine synthesis and palmitate metabolism in vitro.

The carnitine content of the culture media for normal and pathological human muscles, including a case of systemic carnitine deficiency (SCD) was measured and the carnitine concentration was the same in all normal and pathological muscle culture media. Carnitine was never detected in growth medium. Some fibroblasts and myoblasts were filled with neutral lipids in SCD. 14C-palmitate added to the medium was incorporated by SCD fibroblasts or myoblasts to the same concentration as in normal or pathological cells. Factors other than carnitine seem to account for the lipid accumulation of SCD in cell culture.

Carnitine↗
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

Pompe's disease: ultrastructural alterations of muscle tissue in parents.

A histological, histochemical and ultrastructural study of muscle tissue was performed in the parents of a patient affected by a infantile form of acid maltase deficiency (Pompe's disease). In both parents the clinical examination was normal, but serum levels of creatine kinase (CK) and aldolase were high. Histological and histochemical examination of muscle did not reveal any abnormality. Ultrastructural study showed an excess of glycogen granules below the sarcolemmal sheat and between myofibrils, often associated with clusters of mitochondria. There was no glycogen trapped in lysosomal vesicles. The mechanism of glycogen storage in Pompe's disease seems to involve an enzymatic deficiency other than acid maltase.

Adult↗
PubMed1978

Guanylate cyclase activity in normal and diseased human muscle.

Guanylate cyclase activity has been studied in muscle of normal subjects and of patients suffering from muscular and neuromuscular diseases. In normal tissue a guanylate cyclase activity was found in both soluble and particulate fractions of homogenate. We found also that the kinetic analysis of the enzyme of soluble differed from that of particulate fraction. A decrease of guanylate cyclase activity in crude homogenate was observed in muscular dystrophies, in neuromuscular atrophies, and in inflammatory forms of muscle disease.

Cyclic GMP↗
PubMed1977

Guanosine 3'-5'-monophosphate in the CSF of neurological patients.

Cyclic guanosine monophosphate (cGMP) levels have been measured in the cerebrospinal fluid of patients with various neurological diseases. The subjects with epilepsy or cerebrovascular diseases do not show any difference from the controls. Moreover, in the CSF of patients having cerebral tumors the levels of cGMP are markedly increased. This change is in line with previous in vitro studies on the increase of cGMP during cell growth and cell proliferation showing that the role of the nucleotide is important for the control of the life cycle of the cell.

Adolescent↗
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

Regulation of the cyclic guanosine 3'-5' monophosphate system in human brain tumors.

Several reports have suggested that cylcic guanosine 3'-5' monophosphate (cGMP) and cyclic 3'-5' adenosine monophosphate (cAMP) are involved in the regulation of cellular proliferation. Following our previous reports on the cAMP system in human brain tumors, we decided to investigate the cGMP system in the same pathological tissues by studying the activity of guanylate cyclase and cGMP-phosphodiesterase (cGMP-PDE). We found that the activity of both enzymes is lower in neurinomas and glioblastomas than in meningiomas or in normal cerebral cortex. Furthermore, the subcellular distribution of guanylate cyclase in human cerebral cortex differs from that of neurinomas and glioblastomas. On the basis of such observations we have discussed the possibility that the regulatory mechanism of the enzymes related to the cyclic nucleotide metabolism is altered in brain tumors.

Brain Neoplasms↗
PubMedDate not supplied

Myosin polymorphism in human skeletal muscles.

Myosins isolated from individual human muscles (primarily normal muscles) were investigated with respect to their structural and catalytic properties. The results indicate unexpected elements of uniformity shared by the several myosins, such as a three-banded, electrophoretic pattern of light chains in sodium dodecylsulfate (SDS) gels and a low degree of alkaline lability. The pH activity profile and the effect of KCl on myosin ATPase activities were also found to be the same for the myosins from predominantly fast (e.g., vastus lateralis and rectus abdominis) and slow (e.g,, soleus and pectoralis minor) muscles. Coelectrophoretic experiments lend further credence to the interrelationship between human myosin light chains and the light chains of rabbit fast-muscle myosin. However, several kinds of circumstantial evidence, such as that derived from the study of myosin in nemaline myopathy, suggest that one shoould exercise caution in interpreting these results. On the other hand, human muscle myosins, like those of other mammalian species, can be divided into two main categories according to the peptide composition of tryptic heavy meromyosin (HMM) and the banding pattern of light meromyosin (LMM) paracrystals. These results, which are indicative of differences in the primary structure of the heavy chains, allow us to identify these heavy chains as the main site of heterogeneity among myosins in human mucles.

Adenosine Triphosphatases↗
PubMedDate not supplied

Treatment of denervated muscle by gangliosides.

Short-duration cooling of the nerve to the extensor digitorum longus muscle of the rat in vivo induced partially reversible denervation of the muscle and atrophy in the type 2 muscle fibers. Increases in cyclic adenosine monophosphate, cyclic guanosine monophosphate phosphodiesterase, adenylate cyclase, and guanylate cyclase were observed in the denervated muscle. Treatment with gangliosides of the bovine brain cortex seemed to improve the excitability of the surviving motor units and to encourage recovery of neuromuscular trophic control, but it did not affect the nerve conduction velocity or the contractile properties of the denervated muscle.

Animals↗