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Biomedical subjects

F Cornelio

Publications and source records attributed to F Cornelio.

At least 109 records · Page 6Linked to original sources
PubMed1980

"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome.

A 13-year-old boy with a mild limb girdle muscular weakness had a massive rhabdomyolysis and cardiac arrest after general anesthesia. A congestive cardiomyopathy then developed. Muscle biopsy revealed an unspecific "myopathic" degeneration of muscle fibers and a slight accumulation of lipid droplets. Carnitine content was markedly reduced in muscle and moderately in plasma. Both prednisone and carnitine therapies were unable to improve the heart insufficiency, and the patient died 1 year after the acute episode of rhabdomyolysis.

Adolescent↗
PubMed1979

Hepatic ketogenesis and muscle carnitine deficiency.

The levels of plasma free carnitine and ketone bodies have been found to fluctuate inversely in fasting individuals without muscle disease. Circulating short-chain acyl-carnitines paralleled beta-hydroxybutyrate levels. A patient with lipid storage myopathy and muscle carnitine deficiency, and his two daughters, developed exaggerated ketogenesis on fasting. The content of total carnitines in the patient's liver was normal, but free carnitine was reduced to 50 percent, and total esterified carnitines were four times greater than the mean value for the controls. The decreased muscle carnitine content in this case may have resulted from chronic hepatic ketogenesis, draining muscle carnitine. Alternatively, decreased muscle carnitine content may have initiated hepatic ketogenesis.

Acetoacetates↗
PubMed1978

Acid maltase deficiency in adults. Clinical, morphological and biochemical study of three patients.

3 adult women with distinct clinical pictures of progressive myopathy were studied. The morphological findings of biopsied skeletal muscle suggested the diagnosis of type II glycogenosis. Biochemical analysis confirmed a profound deficiency of alpha-1,4-glucosidase activity. Electrophoresis of muscle acid maltase showed the presence of one band in normal individuals. A very faint band with normal electrophoretic mobility was present in the patients' muscles. Muscle neutral maltase is composed of four bands in normal adult individuals: two of the four bands were clearly reduced in the muscles of the patients. The acid and neutral maltases were not significantly reduced in the patients' leukocytes. Acid maltase determination in urine made it possible to identify the homozygous, but not to completely segregate the heterozygous, from unaffected adult subjects.

Female↗
PubMed1978

Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency.

A 25-month-old girl had proximal myopathy, increased blood lactate and pyruvate concentrations, and transient ketoacidosis. Muscle biopsy revealed vacuolar myopathy with accumulation of both lipid and glycogen. Electronmicroscopy also showed abnormalities in the shape, size, and internal structure of muscle mitochondria. Carnitine content of skeletal muscle was reduced. Short-chain and long-chain acyl-carnitines were augmented in both plasma and skeletal muscle. Oral carnitine therapy improved muscle strength.

Carnitine↗
PubMed1977

Fatal cases of lipid storage myopathy with carnitine deficiency.

Three patients affected by a progressive myopathy with rapid lethal evolution are presented. Excessive lipid storage was found in type 1 fibres of muscle and in liver, kidney, and myocardium. Carnitine concentrations were markedly reduced in muscle, plasma, and heart, significantly lower in the liver, and normal in kidney. D-L carnitine replacement therapy was ineffective in the only case treated. The relationship of the present cases with the syndrome of lipid storage myopathy and carnitine deficiency is discussed.

Adult↗
PubMed1976

[The heart in myasthenia gravis. Electrocardiographic, cardiodynamic and kinetocardiographic aspects in 18 cases].

Eighteen patients with myasthenia gravis, second-stage (A or B) according to Ossermann and Genkins, and of young age, were examined as outpatients from the cardiological point of view. Clinical and radiological examination of the heart and large vessels revealed no pathological features. Electrocardiographic abnormalities (including one case of ventricular preexcitation syndrome and one of subepicardial ischemia) were detected in three patients (16,6%). Among the various left ventricular systolic time intervals, only the deformation time was somewhat off normal limits in some cases, but the difference was not statistically significant. In over one-third of the cases, conversely, the kinetocardiogram revealed paradoxical systolic outward movements, indicative of myocardial dyskinesis or dissinergy. The essential normality of systolic time intervals in the presence of manifest abnormalities of the kinetocardiographic curve may be explained by the smallness of hypokinetic or dyskinetic areas, whereby the ejection fraction was not reduced. In general, the ECG and kinetocardiographic tracings showed no tendency to change under the effect of orally administered pyridostigmine.

Adolescent↗
PubMed1976

The syndrome of carnitine deficiency.

Three cases of lipid storage myopathy and carnitine deficiency are presented. Two had a fatal course and were insensitive to cortisone and carnitine-replacement therapy. The two fatal cases had lipid accumulation in organs other than the skeletal muscles and carnitine was reduced in plasma, skeletal muscles, heart and liver. Fibroblasts from one of these "generalized" cases of carnitine deficiency were grown from a skin biopsy. Carnitine level, fatty acids uptake and oxidation were not appreciably different between the patients' fibroblasts and those of controls.

Adult↗
PubMed1975

Nerve supply and experimental myotonia in rats.

20, 25-Diazacholesterol does not induce myotonia in denervated mammalian skeletal muscle, and cordotomy also renders the muscles resistant to the induction of myotonia. Denervation of muscle already rendered myotonic, has no effect on the intensity of the phenomenon. Finally, tenotomy and posterior rhizotomy leave the myotonic activity in the "deafferentated" muscles unchanged. These findings are discussed in relation to "trophic" influences of the motor pathways on the postsynaptic structures of skeletal muscle.

Action Potentials↗
PubMed1975

[Generalised triglyceride lipidosis (triglyceridosis). 1st anatomo-clinical report].

The case reported, known under the name of Lipid Storage Myopathy, occurred in a twenty year old woman. The first symptoms occurred between the age of 14 and 16 years. A complete autopsy was carried out. The entire musculature was involved. There was fatty infiltration of the myocardium as well as marked fatty degeneration of the liver and kidneys. Histological and histochemical examination revealed an accumulation of triglycerides, distributed throughout almost all the organs, this being confirmed by chemical examinations. The latter did not, however, show any changes in phospho-glyco-sulpho-lipid, cholesterol or cholesterol content. Gas chromatography of the total free fatty acids revealed an increase in short chain fatty acids. The authors stress the generalized nature of the pathological process leading to the accumulation of triglycerides, in a disease which up to present time had been considered to be a myopathy and therefore propose the name Generalised Triglyceridosis of Generalised Triglyceride Lipidosis.

Adult↗
PubMedDate not supplied

Content of methylhistidines in normal and pathological human skeletal muscles.

The content of 3-methylhistidine (3-MH) and 1-methylhistidine (1-MH) was measured in muscle biopsy specimens from 13 normal controls, 19 patients with Duchenne muscular dystrophy, 8 limb-girdle disease patients, and 23 disease controls with different forms of muscular pathology. 3-MH and 1-MH concentrations in normal human muscle did not appear to be influenced by sex, body weight, and age, at least for subjects in the 10--60 year age group examined. Skeletal muscle 1-MH levels did not significantly differ from mean control values in any of the pathologies investigated. In the patient population examined, the mean 3-MH level per unit of noncollagen protein (NCP) was significantly lower than normal in Duchenne dystrophy only, the reduction being related to disease severity. The significantly lower concentrations of 3-MH in muscle of Duchenne patients indicate the importance of measuring 3-MH in diseased muscle to obtain reliable estimates of the myofibrillar protein catabolic rate.

Adolescent↗
PubMedDate not supplied

Studies on terminal deoxynucleotidyl transferase and adenosine deaminase in myasthenic thymus.

Thymic function in myasthenic patients was examined using two biochemical markers which specifically define a population of cortisone-sensitive cortical thymocytes. The enzymatic activities of terminal deoxynucleotidyl transferase (TdT) and adenosine deaminase (ADA) were determined in 13 samples. High contents of both enzymes were found in young patients. The enzymatic activities were easily detectable also in the oldest patients, despite the morphological involution and the decrease in TdT which are known to occur with age in the normal thymus. TdT and ADA-containing cells were almost completely depleted in all the 3 treated patients by the corticosteroid treatment which provides a non-surgical alternative to the elimination of this lymphoid population by thymectomy. The persistence of TdT and ADA activity in old age, and their inhibition by the corticosteroid treatment.

Adenosine Deaminase↗
PubMedDate not supplied

Centronuclear myopathy with unusual mitochondrial abnormalities.

The case of a 34-years-old man is described with a progressive myopathy characterized by limb weakness and atrophy, involvement of facial, masticatory and extraocular muscles. The prominent features of the muscle biopsy were the presence of centrally located nuclei in most fibers. There was also an atrophy and predominance of type I fibers. Both clinical and morphological features were consistent with the diagnosis of centronuclear myopathy. Electron microscopic studies showed the presence of mitochondria with paracrystalline inclusions near the centralized nuclei but not in the subsarcolemmal position. This hitherto unreported feature led the authors to re-evaluate the hypothesis on the pathogenesis and the nosological classification of this myopathy.

Adult↗