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Biomedical subjects

M Moggio

Publications and source records attributed to M Moggio.

At least 91 records · Page 5Linked to original sources
PubMed1985

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient.

A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocytochemical stain for cytochrome c oxidase showed very weak results, but both reactions were normal in intrafusal fibers of the muscle spindle. In crude extracts of the patient's muscle, cytochrome c oxidase activity was undetectable and enzyme-linked immunosorbent assay showed decreased reaction at all dilutions of antiserum. These data indicate that the amount of immunoreactive enzyme protein is markedly decreased in muscle of patients with fatal infantile cytochrome c oxidase deficiency and renal dysfunction.

Biopsy↗
PubMed1985

Ultrastructural localization of anionic phospholipids in skeletal muscle plasma membrane.

Polymyxin B was used as a probe to label anionic phospholipids in skeletal muscle plasma membrane. This antibiotic produces muscle surface membrane lesions that can be identified in both thin sections and freeze-fracture replicas. The membrane perturbations assumed a patchy distribution with a preferential localization at the level of the I band and A-I bands junction. Intramembraneous particles were also observed within the lesions. We consider the possibility that microdomains of anionic phospholipids in muscle plasma membrane may function in the binding of Ca++.

Animals↗
PubMed1985

A case of congenital neuromuscular disease with uniform type I fibers, abnormal mitochondrial network and jagged Z-line.

Histological, histochemical and ultrastructural studies of muscle biopsy in a case of congenital neuromuscular disease revealed unusual findings consisting of muscle fibers uniformity which were all type I and of small diameter, jagged Z-line and abnormally developed transverse network of mitochondria. E.M.G. examination demonstrated a myopathic pattern, but mitochondrial changes are quite different from those reported in mitochondrial myopathies and jagged Z-line seems poorly correlated with Z-line streaming present in denervation atrophy, target fibers, core-like lesions or other Z-line abnormalities of the nemaline myopathy. On the other hand type I histochemical uniformity seems more likely related to some dysfunction of the neuronal mechanisms that control both the fiber type differentiation and other trophic influences. It also suggests that myogenic E.M.G. pattern might actually be pseudo-myopathic and due to a reduction of the cross sectional area of the individual muscle fibers composing the motor unit.

Biopsy↗
PubMed1982

Familial nemaline myopathy.

Two sisters with congenital nemaline myopathy are described. In both cases almost 70% of muscle fibers contained rods which were selectively localized in the larger ones. The variability coefficient was abnormally increased. Histochemical reactions showed that almost all the muscle fibers were type 1. In one case many fibers contained one or more core-like lesions. The parents and two siblings of the patients were clinically normal; EMG examination also showed normal motor unit potentials. Muscle biopsy was normal in the father; in the mother a slight type 1 predominance was detected without rods or other signs of myopathy. The disease seems to be transmitted by an autosomal recessive trait, although incomplete penetrance of a dominant trait cannot be excluded.

Biopsy↗
PubMed1981

Sensorimotor polyneuropathy in light chain multiple myeloma.

The authors describe an adult onset sensorimotor polyneuropathy in a woman with light chain K-type myeloma. Neurophysiological investigation showed a severe reduction of conduction velocity of the peripheral nerve to the four limbs. A muscle and sural nerve biopsy were performed. Sural nerve displayed a severe loss of myelinated and unmyelinated fibers. No amyloid deposit was observed in vessels, perineurium and endomysium by electron microscopy examination. No onion bulb formation was present in nerve tissue, but many demyelinated fibers were surrounded by circumferentially disposed Schwann cell processes without any interposition of collagen fibrils. Some fibers exhibit signs of active remyelination; axonal alterations were rarely seen. Collagen pockets were frequently observed among proliferated collagen fibrils. The mechanism of peripheral nerve lesions in various categories of multiple myeloma is till now an unsolved problem. In this case the unusual association with a light chain myeloma suggest that these immunoglobulins play a role in the pathogenesis of the polyneuropathy as supported by experimental studies.

Female↗
PubMed1981

Ophthalmoplegia plus: neuropathological and metabolic studies with a therapeutic trial in seven cases.

Seven cases of chronic progressive external ophthalmoplegia (CPEO) have been studied. They all present palpebral ptosis, slowly progressive ophthalmoparesis without diplopia, descending myopathy and hypoacusia. Additional symptoms were small stature in 5 cases, vestibulo-cerebellar dysfunction in 4 cases, cardiac conductive defects in 6 cases, pigmentary degeneration of the retina in 2 cases, endocrine abnormalities in 2 cases. Muscle biopsy displays in all patients numerous ragged red fibers with typical mitochondrial changes, glycogen accumulation and abnormal amounts of lipid droplets. Metabolic studies reveal in all cases abnormal levels of pyruvic and lactic acid both in basal condition and after an oral glucose load. All the patients have been treated with pyridoxine-alpha-ketoglutarate (PAK). This substance is known to reduce pyruvic and lactic acid concentration in normal subjects after muscular exercise. Two months later a reduction of blood pyruvic and lactic acid both in normal condition and after oral glucose load was observed. The AA. discuss the possible physiological mechanism which can explain their findings.

Adolescent↗
PubMed1980

A hereditary case of lipid storage myopathy with carnitine deficiency. Ultrastructural observation of muscle tissue in parents.

A case of lipid storage myopathy with systemic carnitine deficiency is reported. There was lipid storage also in the liver but not in leukocytes or the Schwann cells of peripheral nerves. Carnitine concentration was normal in the father but below normal in the mother's muscle where abnormal accumulations of lipid droplets and mitochondria were present between the myofibrils and beneath the sarcolemmal sheath. Histographic analysis demonstrated type I fiber predominance in the patient and in his parents. Hereditary transmission of the disease through a recessive autosomal mechanism might be admitted in this case.

Adult↗
PubMed1980

Ophthalmoplegia plus. A multisystem disorder of unknown etiopathogenesis.

Six cases of Ophthalmoplegia Plus (OP) have been studied: all the patients had palpebral ptosis, ophthalmoparesis and descending myopathy. Hypoacusis, cardiac conduction impairment, small stature, mental deficit and vestibulo-cerebellar dysfunction were present only in some cases. EMG showed a severe slowing of motor and sensory conduction velocity in one patient. Polyphasic and long duration MU action potentials, which are indicative of a neurogenic myopathy, were found in all cases. Every muscle biopsy showed many "ragged red fibers" which, in EM, appeared to contain abnormal mitochondria. According to the literature and our data, OP appears to be a multisystemic disorder with severe muscle mitochondrial abnormalities, but it is not certain whether it must be considered a syndrome with multiple etiological factors or a single nosological entity with different possibilities of clinical manifestations.

Action Potentials↗
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

Wound infections in patients undergoing total hip arthroplasty. Ultraviolet light for the control of airborne bacteria.

Ultraviolet (UV) irradiation (1,537 A) during total hip arthroplasty will effectively reduce risk of airborne bacterial contamination of the operative field. An air sampling study at the operative site compared 28 total hip arthroplasties with UV lights on and 19 operations with UV lights off. The use of UV irradiation significantly reduced the average number of airborne bacteria over the operative site, although the results indicate that the number of airborne bacteria collected at the operative site in each conventional operating room without UV irradiation was quite low. Data confirmed the fact that airborne bacteria are a reflection of operating room personnel and their activities. With UV light, the rate of infection from possible airborne sources was 0.15% for 1,322 total hip patients. Thus, emphasis is now placed on those causes of infection that are not airborne.

Adult↗