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Biomedical subjects

F Jerusalem

Publications and source records attributed to F Jerusalem.

At least 37 records · Page 2Linked to original sources
PubMed1989

Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus.

Coenzyme Q10 (CoQ) was measured in serum and muscle of 17 patients with ophthalmoplegia plus (including 5 patients with Kearns-Sayre syndrome), in muscle of 9 patients with neurogenic atrophies, 5 patients with myositis, and 5 patients with progressive muscular dystrophies (including 1 patient with oculopharyngeal dystrophy), and in serum and muscle of normal controls. CoQ was markedly decreased in serum and muscle of 1 patient with Kearns-Sayre syndrome and treatment with CoQ resulted in a significant clinical improvement. The other 4 patients with Kearns-Sayre syndrome and the patients with ophthalmoplegia plus exhibited normal concentrations of CoQ in serum and muscle. CoQ levels in muscle of patients with progressive muscular dystrophies, myositis or neurogenic atrophies were within the normal range. Concentrations of CoQ in serum and muscle of normal controls were independent of age and showed no sex difference. The data indicate that CoQ deficiency might be the specific cause of mitochondrial encephalomyopathy in 1 patient but it was not the underlying defect common to all cases with Kearns-Sayre syndrome and ophthalmoplegia plus, although the possibility of a focal CoQ deficiency affecting only single muscle fibres cannot be excluded.

Adolescent↗
PubMed1988

Motor neuron syndrome and monoclonal IgM with antibody activity against gangliosides GM1 and GD1b.

We demonstrated that an IgM M-protein from a patient with motor neuron syndrome had antibody activity against gangliosides GM1, GD1b, and asialo GM1. Studies with a sugar-binding lectin suggested that the epitope in the patient's M-IgM involved the Gal(beta 1-3) GalNAc moiety. Immunohistological techniques demonstrated staining of axons in the lumbar roots, granular cells, and white matter in the cerebellum by the patient's M-IgM. We propose that, in this case, an autoimmune mechanism of motor neuron syndrome associated with a monoclonal protein is most likely.

Antibodies, Monoclonal↗
PubMed1985

[Arthralgia and neurologic deficit. A differential diagnostic review].

The diagnostic classification of arthralgia and non-characteristic neurological deficit is a challenge for the neurologist and the internist if both symptoms arise simultaneously or in combination. Diseases with the combined appearance of both symptoms are grouped into those with early and more or less simultaneous onset, those starting with arthralgias followed by neurological deficits, neurogenic arthropathies, and those presenting both symptoms as complications of ongoing internal disease. A diagnostic procedure is set out and recommended.

Arthritis↗
PubMed1985

[Paroxysmal phenomena in multiple sclerosis].

The different types and common features of paroxysmal attacks are illustrated by three case reports. The main cause for these attacks is multiple sclerosis, but the mechanism is still unknown: ephaptic activation of demyelinated neurons is discussed. "Anticonvulsive therapy" leads to cessation of the attacks.

Adult↗
PubMed1984

Salicylate prophylaxis in migraine.

46 migraine patients and 4 patients suffering from "nonmigrainous" vascular headache were treated with 250 mg salicylate daily for 2 months. Platelet aggregability before and under treatment was measured in all patients and in 10 controls. The results confirm platelet hyperaggregability in migraine patients and a reduction of aggregability under salicylate out provide no evidence of any significant clinical improvement, thus falsifying the hypothesis of migraine as a platelet aggregation disorder.

Adolescent↗
PubMed1983

A dominantly inherited myopathy with excessive tubular aggregates.

We studied a family in which seven individuals in three generations had slowly progressive weakness without atrophy, myalgia, cramps, or episodic weakness. Creatine kinase was normal, and EMG showed only slight "myopathic" changes. Neuromuscular transmission was undisturbed. Muscle biopsies were performed in three patients. About 60 to 90% of all fibers contained tubular aggregates. There was a marked variation in fiber size and a marked type II fiber atrophy. Biopsy of an asymptomatic family member was normal. The nature of the underlying disease was obscure.

Adult↗
PubMed1982

Evidence for a chronic axonal atrophy in oculopharyngeal "muscular dystrophy".

We report on morphometric investigations of peripheral nerves in a woman, who died at the age of 69, presenting the classical symptoms of oculopharyngeal muscular dystrophy (OPMD) and a typical family history with several members (males and females) affected over three generations. Evidence for chronic axonal atrophy was found in peripheral nerves and especially in oculomotor nerves with severe axon loss in endomysial nerve twigs of extraocular, laryngeal, and tongue muscles. Whereas limb muscles presented features of neurogenic atrophy, severe changes of "myopathic" type were evident in extrinsic eye muscles, laryngeal constrictor, tongue, and diaphragma. However, we interpreted these changes as neurogenic in origin in view of the severe denervation found in those muscles. Our findings suggest that OPMD is a disease of primary neurogenic origin rather than a primary myopathic disorder.

Aged↗
PubMed1981

[Central-core myopathy. A clinical and morphological study on the diagnostic specificity of central muscle fiber changes].

Predominance of type I fibres and loss of oxidative enzyme activity, such as DPNH-dehydrogenase, in the centre of muscle fibres, an alteration called "central core", are considered characteristic findings in central core myopathy. Similar findings in various peripheral neurogenic disorders motivated the authors to check the diagnostic specificity of central cores. Among 1200 muscular biopsies performed for various neuromuscular diseases, 13 biopsies with central cores were found. Only 2 or 3 of them were central core myopathies, while clinical and electromyographic findings served to classify the remaining 10 cases as peripheral neurogenic disorders (anterior horn cells, anterior nerve roots, plexus, peripheral nerves). The results support the observation that central cores are not a specific finding in central core myopathy; identical alterations are caused by various peripheral neurogenic disorders. Clinical, electromyographic and morphologic findings must be considered for the purpose of diagnostic classification. It is not yet known whether central core myopathy really is of myogenic origin or whether it is caused by a peripheral neurogenic disorder. The authors therefore prefer the term "central core disease" to "central core myopathy". Their findings support the neurogenic hypothesis.

Adolescent↗
PubMed1981

[Is myositis in chronic polyarthritis using d-penicillamine drug-induced?].

Myositis was diagnosed twenty months after starting treatment with d-penicillamine in a patient suffering from uncomplicated rheumatoid arthritis for nearly three years. The diagnosis was established by electromyographic investigation and by biopsy. In this patient d-penicillamine had been intermittently increased to a dose over 1 g per day and then reduced because of mild proteinuria. The appearance of myositis during d-penicillamine therapy, its immediate regression on discontinuing the drug, and the absence of signs of vasculitis or other extraarticular manifestations in this patient suggest that this complication may be drug-induced. The clinical course is compared with isolated cases reported in the literature. The significance of this rare side effect is discussed.

Arthritis, Rheumatoid↗