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Biomedical subjects

F Gullotta

Publications and source records attributed to F Gullotta.

At least 145 records · Page 8Linked to original sources
PubMed1976

[Pseudodystrophic muscle glycogenosis in adults. (Acid maltase deficiency syndrome) (author's transl)].

A 40-year-old man suffered for 5 years from a progressive proximal myopathy mimicking an atypical limb-girdle dystrophy. A "myopathic" pattern with myotonic and pseudomyotonic discharges was determined by electromyography. Enzyme histochemical and ultrastructural investigations of muscle and liver biopsies pointed to a glycogenosis. Biochemical investigations of muscle and liver samples confirmed this diagnosis, disclosing an acid maltase deficiency. Glycogen filled lysosomes were also revealed electron optically in skin fibroblasts but not in white blood cells. The literature concerning the late onset forms of acid maltase deficiency (type II glycogenosis) has been reviewed, and the clinical course has been compared with that of the infantile form (Pompe's disease). In early infancy the disease has a short and fatal course, with involvement of many organs. primarily skeletal muscules, liver and heart. In the late infantile and juvenile forms the course of the disease is slower, the organ involvement beeing not as severe; muscular symptoms begin to prevail. In adults, type II glycogenosis mimics muscular dystrophy with its prolonged course and the almost exclusive clinical involvement of proximal muscles. Biochemical and ultrastructural investigations have nevertheless demonstrated that other organs and tissues are also involved. The reasons for the variability of organ involvements in different ages are as yet unknown.

Adolescent↗
PubMed1976

[Malignant hyperthermia, chronic alcoholism and tubular aggregates (author's transl)].

A 24-year-old chronic alcoholic survived malignant hyperthermia which developed in connection with maxillo-facial operation. Electron-microscopic investigations of muscle biopsies disclosed so called tubular aggregates. The possible relations between these structures and the occurrence of malignant hyperthermia on the basis of an alcoholic myopathy are discussed. People suffering from idiopathic recurrent myoglobinuria have to be regarded as patients-at-risk.

Adult↗
PubMed1976

Tissue culture, electron microscopic and enzyme histochemical investigations of extraadrenal paragangliomas.

Light and electromicroscopical as well as histochemical investigations were performed on three cases of extraadrenal paragangliomas. They were localized in the carotid body, tympanicum and cauda equina region. Tissue of two cases was cultivated in vitro in nutrient medium TCM 199. The tumours were classified as paragangliomas of the paraganglionic type with typical cell clusters, of the adenomatous and angiomatous type. The enzyme histochemistry showed a very high dehydrogenase activity. Ultrastructurally numerous typical osmiophilic granules could be observed in the cytoplasm of the tumour cells. In tissue culture only a minimal cellular proliferative activity could be detected. The few proliferating cell colonies showed mostly characteristics of epithelial tissue and sometimes a similar behaviour to cells of a ganglioneuroblastoma. The minimal proliferative activity in vitro is in good agreement with the proliferative behaviour of the extraadrenal paragangliomas in vivo.

Carboxylic Ester Hydrolases↗
PubMed1976

[Report on 2 cases of malignant hyperthermia with different clinical courses].

Two cases of malignant hyperthermia with different clinical courses are reported. The patients showed the classical signs of malignant hyperthermia consisting of tachycardia, tachypnoea, ocasional peripheral cyanosis, high body temperature as well as characteristic rise in serum enzymes. In one of the patients the symptoms were recognized early during the operation. The immediate commencement of therapy with ice-cooled. Ringer-Lactate-Solution, Procainmedication, Corticoids as well as physical body cooling favourably influenced the clinical course and the patient survived. In both cases the patients underwent succinylcholine and halothane anaesthesia, but the symptoms of the second patient appeared after the reduction of anaesthesia. In spite of vigorous therapy the hyperpyrexia resulted in heart arrest and death. Morphologically, both patients showed signs of preexistent myopathy with volumetric alterations of the muscle fibres, centralisation of the nuclei and acute muscle fibre necrosis. On the basis of the observed variable course, the various symptom complexes reported in the literature to data are reviewed. A detailed discussion of the "carrier problem" and the available treatment possibilities is also made. Realising that malignant hyperthermia is an inheritable disease, prophylactic measures such as, f.i. the issue of medical certificates to the patient and his relatives are suggested.

Adult↗
PubMed1975

[Clinical and morphological findings in a case of malignant hyperthermia (author's transl)].

A 32-year-old man survived malignant hyperthermia which developed in conjunction with laparotomy. Muscles biopsy indicated acute necrosis of muscle fibers as well as changes consistent with a latent myopathy. Clinical, laboratory and morphological studies of the relatives revealed familial subclinical myopathy. The hyperthermia resulting from the anaesthesia is thought to be casually related to the myopathy, and members of the family have been warned against this potential risk.

Adult↗
PubMed1975

[Histological, histochemical, and ultrastructural findings in malignant hyperthermia (author's transl)].

Malignant hyperthermia is a rare but severe complication of modern anesthesia, induced by halothane and succinylcholine. The syndrome is characterized by a rapid sustained and extreme rise in body temperature associated with muscular rigidity, tachycardia, tachypnoea and cyanosis. The lethality is about 60%. The present paper describes the histological, histochemical and electron microscopical findings performed on muscle biopsies of 3 patients with malignant hyperthermia (1 patient died) and a so called risk patient. In all patients morphological findings consistent with a pre-existent myopathy were found. Histologically there were acute necrotic muscular fibers as well as in types I and II, variations in the fiber diameter and centralization of the nuclei. In two cases even fibers that had a normal aspect in HE slides, showed a pathologic pattern after phosphorylase reaction. In addition to acute rhabdomyolysis, electron-microscopic investigations revealed cystic expansion of the cisterns of the sarcoplasmic reticulum with a peculiar proliferation of the sarcolemma. In a degenerating mitochondrium, a crystalline inclusion was identified. These findings support the pathogenetic concept of Britt and coworkers of a functional defect in the calcium release or binding mechanism of sarcoplasmic reticulum. Since it is known that malignant hyperthermia has a familial predilection, it seems very important that clinical, biochemical, and morphological investigations be performed such as CPK estimations and muscular biopsies not only of the patients but also of the relatives in order to rule out this type of latent myopathy.

Adult↗
PubMed1975

[Clinical and morphological considerations concerning "medulloepithelioma" (author's transl)].

The clinical course and autopsy findings in a 20 months old child with a so-called medulloepithelioma of the brain stem are reported. The histological features of this tumour are described. Ten previous cases in the literature are reviewed and the controversial problems of this entity are discussed. It seems reasonable to place this malignant tumour in the group of ependymomas; in detail, the definition "embryonic ependymoma"; proposed by Fowler, appears to be the most suitable, because it comprises all morphological and biological features of this rare malignant tumour.

Brain Neoplasms↗
PubMed1975

[Juvenile spongy dystrophy of CNS with necrosis of the medulla. A. complication of hydroxyquinoline therapy (author's transl)].

A girl of 10-5/12 years is described, who had diabetes mellitus from the age of 5 years on and who developed bilateral ptosis, pigment degeneration of the retina and bilateral impairment of hearing at the age of nine years. A few weeks before death she suffered from an acute gastrointestinal infection which was successfully treated by a hydroxyquinoline derivative. In the days following a severe encephalopathy and signs of cardiac involvement appeared. A month later the girl died of bulbar paralysis and acute heart failure. Histology showed remnants of a granulomatous inflammation in the heart, the kidneys, the pancreas and the skeletal muscles. Furthermore there was a widespread spongiosis in the white substance of the brain, with large astrocytes, and partly also in the basal ganglia, the brain stem and the cerebellum. Foci of sudanophilic tissue necrosis resembling Wernicke's Encephalopathy were found in the medulla oblongata and the spinal cord. The peripheral nerves appeared partially demyelinated and showed axonal lesions. This case is classified as a Juvenile Type of so-called Canavan's Disease. It shows some resemblence to the "Progressive Chronic Ophthalmoplegia with Spongiform Encephalopathy described by Daroff, Kearn and Sayre. The possible neurotoxical effects of the hydroxyquinoline therapy are discussed.

Brain↗