Search PubMed⌕ Search

Biomedical subjects

R Yarom

Publications and source records attributed to R Yarom.

At least 73 records · Page 4Linked to original sources
PubMed1981

Nemaline myopathy and a mitochondrial neuromuscular disorder in one family.

A family composed of parents and four children is reported. Two brothers presented from early infancy with hypotonia and non-progressive weakness. Muscle biopsy in both revealed numerous typical nemaline rods. The father, suffering from backache, had a slow MNCV of both common peroneal nerves. His muscle revealed variation in fiber size, splitting, type 1 atrophy and numerous pleomorphic mitochondria with crystalline inclusions. The mother's muscle showed type 2 atrophy, foci of myofibrillar degeneration, and lipofuscin bodies. In a 12-year-old daughter and a 5-year-old son the muscle revealed an excess of small, bizarre mitochondria and lipid droplets. The coexistence of nemaline myopathy and a mitochondrial neuromuscular disorder in one family has never been reported in the literature. It might be a coincidence of two rare muscle disorders in one family, or it might be the polymorphic expression of a single etiological factor causing a defect in protein synthesis.

Adult↗
PubMed1981

Reye's syndrome; diagnosis by muscle biopsy?

Three children with Reye's syndrome are described. One child died, the second had mild and transient illness, and the third had recurrent episodes. In all 3 children a muscle biopsy showed pronounced infiltration of the myofibres with fat microdroplets as shown by the oil red O stain and by electron microscopical examination. We suggest that needle biopsy of muscle may be a quick and safe aid to the diagnosis of Reye's syndrome, and may be preferable to liver biopsy in view of the pronounced tendency to bleed in Reye's syndrome.

Biopsy, Needle↗
PubMed1981

Myopathy in hyperornithinemic gyrate atrophy of choroid and retina.

Five patients in two families with hyperornithinemia and gyrate atrophy (HOGA) of the choroid and retina are reported. All patients had marked muscle wasting. Biochemical studies revealed high levels of plasma ornithine and low levels of plasma lysine. Muscle biopsies were performed in four patients and showed subsarcolemmal accumulation of pleomorphic mitochondria and tubular aggregates. These findings suggest that muscle wasting in HOGA is associated with a myopathy that is probably secondary to hyperornithinemia and/or hypolysinemia.

Adolescent↗
PubMed1980

Thick filament size changes in contraction of human muscles.

Measurements done on electron micrographs shows that in myofibres with sarcomeres contracted to below 2.1 micron, proportional shortening of the A bands occurs. In muscles from patients with idiopathic scoliosis very short A bands are especially prominent.

Cytoskeleton↗
PubMed1980

Thick filament degeneration in a case of acute quadriplegia.

Absence of thick filaments from the A bands in tissue giving apparently normal histochemical reactions for myosin ATPase, was seen in a case of acute onset muscle weakness progressing rapidly to quadriplegia with cerebral involvement. There was also widespread degeneration of interstitial structures and much phagocytosis. The dissociation of structure and function of the thick filaments suggests that a selective injury occurred within the myosin molecule. The etiology of the condition although clinically suggestive of a polyneuropathy remains pathologically uncertain. Toxic, immunological or viral causation may be responsible.

Adenosine Triphosphatases↗
PubMed1980

Microanalysis and X-ray fluorescence spectrometry of platelets in diseases with elevated muscle calcium.

Electron microscopic X-ray microanalysis and X-ray fluorescence spectrometry were done on platelets from patients with Duchenne muscular dystrophy and idiopathic scoliosis (both these conditions are known to be associated with increased intramyofibre calcium). A significant increase in calcium and phosphorus concentrations was found in the dense granules and whole cells of both conditions. The findings suggest that idiopathic scoliosis like Duchenne muscular dystrophy is a multisystem disease with detectable changes in platelets.

Adolescent↗
PubMed1980

Platelet pathology in patients with idiopathic scoliosis: Ultrastructural morphometry, agrregations, x-ray spectrometry, and biochemical analysis.

The fundamental similarity between platelets and muscle, suggested the possiblity of a shared defect in idiopathic scoliosis, a genetic disease with lateral deformity of the spine in which there is an elevation of calicum concentration in muscles and platelets. A variety of platelet tests revealed the following abnormalities: (1) Electron microscopic x-ray analysis and x-ray fluorescence spectrometry showed a 2- to 3-fold increase in calcium and phosphorus in whole cells and in individual dense bodies. (2) Electron microscopy morphometry revealed an increase in electron-opaque bodies in air-dried cells; granules and microtubules were unchanged. There were more large cells and membranous complexes. (3) Aggregations with epinephrine and ADP were depressed in some patients. (4) Proteins (total and contractile) and myosin. ATPase activity in centrifuged fractions of platelets were decreased in the cytosol and increased in the fraction containing membranes and granules. The correlated findings suggest that platelets in idiopathic scoliosis have a mild calcium transport defect related to membrane and/or contractile protein metabolism. This investigation also shows that platelets may be used to advantage in diagnosis and research of muscle diseases.

Actins↗
PubMed1979

Electron microscopic x-ray microanalysis in pathology: current status.

Electron microscopic X-ray microprobe analysis is very suited to pathological investigations. It may lead to a better understanding of the relationship between structure and function in disease processes. It may also help to detect localized abnormalities before the appearance of morphological changes. This methodology may thus contribute to earlier diagnoses and detection of the carrier state, and may aid in the study of reactions to injury and therapy.

Electron Probe Microanalysis↗
PubMed1979

Muscle pathology in idiopathic scoliosis.

Muscles from patients with scoliosis were studied to determine the possible relationship between neuromuscular disease and idiopathic scoliosis. Biopsies taken from the paraspinal musculature, the gluteus maximus and other sites were examined and compared with control specimens taken from patients undergoing spinal surgery for other disorders. Morphological and morphometric examinations by light and electron microscopy revealed a wide range of pathological changes and an alteration in the normal distribution of fiber types in most muscles. Changes were mainly nonspecific, but one unusual feature in idiopathic scoliosis but not in the other types of scoliosis consisted of type I fiber atrophy in paraspinal and deltoid muscles of the concave side paraspinal muscle, the site of the maximum morphological changes. The localized muscle changes, which are disease and not deformity related, suggest that idiopathic scoliosis is a separate disease entity and that the central nervous system may be involved in its genesis.

Adolescent↗
PubMed1978

Electron microscopic X-ray microanalysis of localized element concentrations in human cardiomyopathies: a pilot study.

The elemental content in localized cellular regions of human myocardial biopsy specimens was studied by electron microscopic x-ray microanalysis. The elements detected were phosphorus, sulfur, chlorine, calcium, and zinc and occasionally tracrs of iron and copper. Nucleoli and heterochromatin contained the highest concentrations of phosphorus and calcium, whereas sulfur was prominent in sarcomeres, dark mitochondria, and secondary lysosomes. Dark mitochondria often had more phosphorus, sulfur, and calcium than swollen, paler ones.

Adult↗
PubMed1978

X-ray fluorescence analysis of muscles in scoliosis.

X-ray fluorescence spectrometry was used to determine calcium, copper, and zinc concentrations in paraspinal and gluteal muscles obtained during spinal surgery from patients with scoliosis. Samples of 1-3 mg were sufficient to demonstrate that calcium was higher in idiopathic than in other forms of scoliosis or in normal control muscles. It is suggested that a calcium-related neuromuscular defect could be an important factor in the genesis of idiopathic scoliosis.

Calcium↗
PubMed1977

Zinc distribution in injured myocardium. EMMA-4 examinations of dogs' hearts after coronary ligation.

Electron microscopic X-ray microanalysis and atomic absorption spectrophotometry were used to determine changes in zinc concentration after myocardial ischemic injury by coronary ligature in dogs. The zinc concentration increased in the damaged myocardium especially in specific intracellular locations identified by means of the microprobe. It was concluded that the selective zinc augmentation was related to proliferative and biosynthetic reactive processes in the myocardium.

Animals↗
PubMed1977

Myosin degeneration in a congenital myopathy.

In a muscle biopsy specimen from a baby girl with hypotonia, there was the ultrastructural finding of selective myosin degeneration in some myofibers. The sarcomeres were either well aligned or completely distorted. Excessive glycogen, fiber and fibril splitting, and occasional aggregates of vesicles were the other abnormalities present.

Female↗
PubMed1977

Electron-microscopic X-ray microanalysis of normal and diseased human muscle.

Electron-microscopic X-ray microanalysis has been used to compare elemental concentrations in specific organelles in normal and diseased human muscle. An elevated calcium to phosphorus ratio has been found in both myonuclei and interstitial cell nuclei in diseased muscle compared with controls. Preliminary observations also suggest that differences in elemental concentrations may be associated with structural abnormalities such as internal nuclei, and loss of myofibrils.

Adolescent↗