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Biomedical subjects

F Jerusalem

Publications and source records attributed to F Jerusalem.

16 recordsLinked to original sources
PubMed1978

Hyperreactive (hyaline, opaque, dark) muscle fibers in Duchenne dystrophy. A biopsy study of 16 dystrophy and 205 other neuronmuscular disease cases and controls.

Biopsies of 16 patients with Duchenne dystrophy and 205 consecutive biopsies of other neuromuscular diseases and controls were studied for the presence of hyperreactive (hyaline, dark, opaque) fibers. All biopsies of Duchenne dystrophy showed hyperreactive fibers; the percentage varies between values below 1 up to 19 (median 3.5%). In 11 (69%) of the 16 biopsies the percentage was more than 1. Only in 34 (17%) of the 205 consecutive biopsies were hyperreactive fibers found. In 30 of these 34 biopsies the percentage of hyperreactive fibers was below 1. A positive or negative correlation between the increased level of serum-CPK or the early stage of Duchenne dystrophy and the number of hyperreactive fibers could not be demonstrated. Obviously the hyperreactive fibers are not specific for Duchenne dystrophy. On the other hand a value of 1% supports this diagnosis. Delta lesions were demonstrated in 54% of the hyperreactive fibers.

Child↗
PubMed1978

The syndrome of 'continuous muscle fiber activity.'.

A 7-year-old boy who suffered from increasing stiffness and contractures of the extremities had distally pronounced atrophy and absent tendon reflexes. Electromyography showed continuous electrical activity during rest, sleep, after intravenous injection of diazepam, and after peripheral nerve block. The H reflex was elicitable; the silent period after the reflex was absent. Histopathological examination of the peroneus muscle disclosed a marked preponderance of type I fibers and slight atrophy of the type II fibers. Electron microscopic examination of the endplates demonstrated a marked atrophy of the postsynaptic regions and widened synaptic clefts. After one year's treatment with phenytoin, 200 mg daily, the patient showed an almost normal muscle tone. As not all of these electrophysiological phenomena can be fully explained by disturbances of the nerve terminals or the endplates, a further anomaly proximal from the peripheral nerve block seems to have been present.

Child↗
PubMed1977

[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders].

Two patients aged 17 and 25 years with Kearns syndrome are described. This condition is characterized by the triad of chronic progressive external ophthalmoplegia, pigmentary degeneration of of the retina and cardiac conduction defects. A review of the literature reveals frequent association with other symptoms, mainly cerebellar ataxia, neurosensory hearing loss, small stature, muscle weakness, mental retardation or dementia and endocrine disturbances. In skeletal and extraocular muscle biopsies, abnormalities of mitochondria, at present of unknown significance, have been found. CSF protein is almost always increased. The etiology of this multisystem disorder remains obscure. The 58 published cases have been sporadic, with no evidence of hereditary transmission. The prognosis seems mainly to depend on the progressive cardiac conduction defects, since several patients have already died in the second or third decade due to heart block. Patients with progressive external ophthalmoplegia should be investigated for Kearns syndrome. If appropriate, implantation of a cardiac pacemaker should be considered.

Adolescent↗
PubMed1977

[Exercise-induced muscular weakness, myalgia and contractures. I. A clinical review].

In the differential diagnosis of intermittent claudication some rare myopathies have to be considered. The most frequent is phosphorylase deficiency (McArdle's disease). Exercise-induced muscular pain, weakness, contractures and occasionally myoglobinuria are the most prominent clinical signs. Serum creatine phosphokinase, aldolase and lactic dehydrogenase may be elevated after exertion. In the ischemic forearm test there is no rise of serum lactic acid. The enzyme deficiency can be demonstrated by histochemical and biochemical examination of a muscle specimen. Further, but more infrequent, enzymatic disturbances of glycolysis are phosphofructokinase deficiency and phosphohexoisomerase inhibitor, which also yield an abnormal ischemic forearm test and must be demonstrated histochemically and biochemically. Apart from muscular signs, myopathy with lactic acidosis is associated with palpitation, dyspnea and exhaustion, and a disproportionate rise in serum lactic acid level after exertion. Histochemically and electronmicroscopically demonstrable fat accumulation in the muscle can be a sign of a disturbance in lipid metabolism. This type of exercise-induced myopathy has been reported only in a few cases with carnitine-pylmityltransferase deficiency, which has to be demonstrated biochemically. Muscular contractures also exercise-induced but painless and reversible within seconds may be due to deficient uptake of sarcoplasmic calcium in the tubular system. Dyskalemic paralysis causes painless paresis within minutes of hours after exertion, which disappears within hours to a few days. Myopathy with tubular aggregates can be differentiated from other exercise-induced myopathies by morphology. Myotonia combined with painful contractures characterizes myopathia myotonica.

Acidosis↗
PubMed1977

[Myasthenia gravis. New results on etiology, diagnosis and therapy].

Myasthenia gravis is discussed with reference to recent immunologic findings, improvements in diagnostic procedure, and therapy. Myasthenic reactions can be produced in animals by injection of receptor proteins. In addition, the injection of thymopoietin causes neuromuscular block. The majority of patients with myasthenia gravis have antibodies against acetylcholine receptors, and there is a markedly reduced number of bungarotoxin binding receptors at the endplates. Further, recent immunologic findings indicate that genetic factors may be involved in the etiology of myasthenia gravis. The recently developed single fiber electromyography is useful in the diagnosis of myasthenia gravis. New statistics demonstrate the value of thymectomy in the treatment of myasthenia gravis. Good results have been reported following treatment with corticosteroids and azathioprine.

Adrenal Cortex Hormones↗
PubMed1976

[Selective muscle fiber type anomalies in neuromusclar disorders. An analysis of 124 consecutive muscle biopsies (author's transl)].

The following parameters were measured and calculated in 124 consecutive muscle biopsies: mean fiber diameter, standard deviation, percentage of type I and Type II fibers, variability coefficient, hypertrophy and atrophy factor. Twenty percent of the histometrically analyzed biopsies showed a type II atrophy and four percent a type I atrophy. Type II atrophy was found particularly in the following disorders: collagen vascular diseases, steroid myopathies, cachexia and as a result of inactivity. Some neurogenic processes also demonstrated a selective type II atrophy. The combination of a grouped type II atrophy with a type I hypertrophy is characteristic of chronic and usually heredodegenerative disorders of the motoneurons. The presence of a selective type II atrophy argues against a genetically determined muscular dystrophy. A mixed atrophy classified here as strong or very strong primarily suggests a neuropathy. A selective type I hypertrophy has been found exclusively in neurogenic processes, and type II hypertrophy predominantly in the cases of chronic heredodegenerative neurogenic and primarily myopathic diseases. An increase of the variability coefficient of both types of muscle fibers is more frequent and pronounced in neurogenic processes than in myopathic syndromes. Type II fibers show a selective increase in the variability coefficient considerably more often than type I fibers. In contrast to other reports we seldom found a fiber type predominance or a pathological type-grouping. Only two out of five biopsies with pathological fiber type-grouping were definitely neurogenic. In special cases the histometric analysis of muscle fiber types improves the diagnostic efficiency of muscle biopsies.

Atrophy↗
PubMed1976

Hypotheses and recent findings concerning aetiology and pathogenesis of the muscular dystrophies.

The survey reports recent findings and current hypotheses on the aetiology and pathogenesis of the muscular dystrophies. Briefly presented are (1) biochemical anomalies of structure and metabolism, (2) membrane defects, (3) the neural hypothesis, (4) the vascular hypothesis, and (5) the connective tissue hypothesis. At present, research interest is focused primarily on membrane structure and biochemistry, on neural muscle trophism, and on the genetic aspects of abnormalities in molecular biology. Whether the progressive muscular dystrophies are primary disorders of voluntary muscle or whether the primary alteration is located outside of the muscle still remains unknown.

Cell Membrane Permeability↗
PubMed1975

Lipid storage myopathy with normal carnitine levels.

A 28-year-old female, who showed a floppy baby syndrome during early infancy, had a non-progressive proximal muscle weakness with easy fatiguability since childhood. Two muscle specimens biopsied at the age of 28 years revealed myriads of 1-3-mum wide abnormal spaces containing neutral fat in type I and type II fibers. Both biopsies demonstrated a type I fiber preponderance. Electron microscopy demonstrated lipid excess and normal mitochondria by simple inspection. The mitochondrial area and sarcotubular membrane profile concentration in morphometry of longitudinal sections were also normal. Cross-sections, however, revealed a slight decrease of the individual mitochondrial size and of the sarcotubular membrane profile concentration . Serum and muscle carnitine levels and the muscle carnitine palmityltransferase level were all within normal range. Besides carnitine deficiency other biochemical defects can occur in lipid storage myopathy, which represents a syndrome rather than a unique disease entity.

Acetyltransferases↗
PubMed1975

Human muscle fiber fine structure: morphometric data on controls.

Muscle fiber fine structure was quantitatively analyzed in 70 longitudinally and 65 transversely sectioned fibers from 10 control subjects without weakness. The average mitochondrial fraction of the fiber volume is close to 4 percent and the mean size of a mitochondrion is about 0.1 mum2. The sarcotubular surface area per unit fiber volume is close to 1.5 mum2/mum3 in transverse sections and 0.65 times this value in longitudinal sections. Only one-third of all fibers contain lipid droplets in the sectioned plane, and for all fibers the droplets account for approximately 0.12 percent of the fiber volume. Variations with the age and sex of the subjects and with different muscles were analyzed and the feasibility of typing human muscle fibers at the ultrastructural level was evaluated.

Adult↗