Search PubMed⌕ Search

Biomedical subjects

F Jerusalem

Publications and source records attributed to F Jerusalem.

At least 55 records · Page 3Linked to original sources
PubMed1980

[Carnitine deficiency myopathy (author's transl)].

Carnitine is a carrier for the transport of long-chain fatty acids from the cytoplasmic to the mitochondrial space. So far 18 cases of carnitine deficiency myopathy have been recognized, generally occurring as progressive or relapsing myopathy. In contrast episodic exercise-induced myalgia and paresis was found in a 46-year-old patient with carnitine deficiency myopathy which was quickly reversible at rest. As a consequence of this observation carnitine deficiency myopathy must be added to the differential diagnosis of the McArdle syndrome (muscular phosphorylase deficiency) and other "exercise myopathies".

Biopsy↗
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↗