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Biomedical subjects

F Gullotta

Publications and source records attributed to F Gullotta.

At least 109 records · Page 6Linked to original sources

[Chronic trichinosis and neuromuscular diseases. Morphologic and pathogenetic aspects].

Muscle biopsies were carried out on five patients affected by a chronic neuromuscular disorder, mostly in the form of a spinal muscle atrophy. All patients had suffered from acute trichinellosis many years before, the interval between acute parasitic infection and the appearance of the slowly progressive neuromuscular syndrome being of 21, 13, 35, 26 and 16 years respectively. In biopsy specimens, morphological and enzyme-histochemical changes typical of a progressive neurogenic muscular atrophy were present; in addition, encapsulated but still living, enzyme-positive parasites and signs of focal myositis were detected. The possible pathogenetic correlations between the "chronic" trichinellosis and the "degenerative" neuromuscular disorder are discussed.

Aged↗

Glial fibrillary acidic protein in medulloblastomas and other embryonic CNS tumours of children.

Investigation of GFAP in 50 medulloblastomas showed a few GFAP-positive tumour cells in 5 cases only; 17 tumours were negative, and 28 showed a "pseudopositivity", i.e. GFAP-bearing cells were identified as reactive or degenerating astrocytes, intermingled with tumour elements. A high GFAP content was seen in 2 small-cell gliomas of the cerebellum, whereas 3 pineoblastomas, 2 neuroblastomas of CNS, and one medulloepithelioma were negative. GFAP is a very good method for identificating astrocytes, but does not seem to be reliable for identifying the origin of undifferentiated tumours such as medulloblastomas. In these neoplasms glial differentiation is lacking or extremely rare, GFAP-positivity being mostly an artifact. The investigation of small tumour samples or the positivity of a single cell are inadequate data for a correct evaluation of the findings, especially taking in mind that GFAP of degenerated astrocytes can be phagocytised by cells other than glial (e.g., macrophages, epithelial and meningioma cells). The importance of carefully checking the whole structure of the tumour is stressed, GFAP positivity or negativity being not a sufficient criterion for its nosological classification.

Adolescent↗

[Idiopathic paroxysmal rhabdomyolysis and clinically latent myopathy].

Rhabdomyolysis can appear secondarily in the course of many different diseases, but also primarily as "idiopathic paroxysmal rhabdomyolysis" (i.p.r.), simulating clinically an acute myositis. Different factors can trigger this muscle reaction, the most important of them being physical stress, alcoholism, drug dependence, general anesthetics. In many of these cases biopsy investigations do disclose, out of rhabdomyolysis, a preexistent myopathy, usually dysmetabolic in origin, and often with familial incidence (lipid myopathies; carnitine palmityl-transferase deficiency; mitochondrial myopathies; glycogenoses; hypokaliaemia--but also central core diseases, tubular aggregates myopathy a.s.o.). Exact morphological and biochemical investigations are therefore needed in every case of i.p.r., with the purpose to identify the underlying myopathy in the patients and their relatives. Repeated controls of CPK values should be performed. Bearers of such subclinical myopathies have in fact to be considered patient at-risk if exposed to stress or if submitted to general anesthesia.

Adolescent↗

[Enzyme histochemistry in the biopsy diagnosis of skeletal muscle diseases].

Thanks to the use of enzyme histochemical methods, substantial progresses have been made in muscle biopsy diagnosis in recent years. These methods not only permit detection of early alterations in known ("old") myopathies, they also have led to the discovery of numerous "new" neuromyopathies. They also have opened up the potential for additional, specific electron microscopic and biochemical tests. Some examples of the old and new myopathies are presented.

Adult↗

Rigid spine syndrome. Some evidence of varying pathological patterns.

Rigid spine syndrome is a rare disorder supposed to be myopathic in origin, its major histologic abnormality being apparently a proliferation of connective tissue. A case of this syndrome observed in a 8-year-old girl with a progressive and rapidly fatal course is reported. Examination of nerve conduction velocity suggested a neurogenic rather than a myopathic impairment. Muscle biopsy disclosed nonspecific findings, such as fibre size variation, few streamings, but no proliferation of connective tissue. A review of the cases presented in the literature let us suppose that this syndrome is a complex clinical disorder probably secondary to varying pathological processes.

Child↗

[Muscle biopsy studies in malignant hyperthermia].

Muscle biopsies were carried out in 41 patients with malignant hyperthermia, or supposed at-risk, as well as in some of their relatives. In 20 patients no changes were detected, and in 2 patients only acute rhabdomyolysis was seen (53.7%); in 19 patients (that is 46.3%) myopathic aspects were found in form of minimal changes, but also of syndrome-like tissue alterations (e.g. core disease, muscle dystrophy). These results confirm the existence of a morphologically detectable "subclinical myopathy" in about half of our patients. Four cases apt to demonstrate the variability, and the large morphological spectrum of these "myopathies" within the same family are described. In children, morphological changes are often missing. Carriers of such "subclinical myopathies" are occurring probably more frequently than supposed. Their identification in time is difficult, the only reliable methods being pharmacological fiber contraction-tests which can be performed in special laboratories only. A raw screening of patients-at-risk may be, however, achieved by exact anamnestic investigations and preoperative CPK-controls. Individuals suffering from paroxysmal myoglobinuria at any rate have to be considered patients at-risk.

Adult↗

Minicore myopathy.

A case of minicore diseases (MCD) detected in a 10-year-old boy was reported and the nosological entity of this "myopathy" discussed. Its pathogenesis was unknown. Similar findings have been reported in many different conditions of human and experimental pathology. This suggests the possibility that at least some "core diseases" (central-, mini-, multicore myopathies), might not be diseases but just tissue syndromes. The possible relationship between these myopathies and malignant hyperthermia is stressed.

Child↗

[Chronic trichinellosis and neuromuscular diseases: clinical, serological and therapeutic observations].

In six males with chronic neurological signs who, 14-41 years previously, had an episode of acute trichinellosis cardinal symptoms were chronic muscle pain and lower-neuron damage. Other findings, probably related to trichinellosis, were episodes of pyrexia, chronic gastro-intestinal and cardiac symptoms, and in one case symptomatic epilepsy with psychomotor attacks. Significant laboratory findings were a chronic leukocytosis in one case, repeated elevations of eosinophil count in three. Muscle biopsy in all patients revealed live trichinella and (or) focal myositis. The serological findings did not correlate with the biopsy ones. If the live trichinae are encapsulated, antibody titres may be negative, while they may be markedly elevated when the trichinellae are dead. Whether encapsulated larvae can be influenced by tiabendazol or mebendazol is not clear from these observations.

Adult↗

["Malignant hyperthermia" following NLA and spinal anaesthesia (author's transl)].

A 51 years old patient underwent 3 urological operations within a short space of time. The anaesthetic procedures (NLA and spinal anaesthesia) caused a rise of temperature, hyperventilation and tremor, suggesting a malignant hyperthermia. The patient refused a muscle bioptical investigation. Biopsies were performed in the patient's children. In the daughter, some "whorled fibres" and single fibre necrosis, interpreted as signs of myopathy, were detected. The clinical syndrome of the father and the histological results of the daughter point out to the possibility that in this family a predisposition to malignant hyperthermia is present.

Anesthesia, Spinal↗

Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL).

This report concerns morphologic findings in two middle-aged women, who died of sporadic adult neuronal ceroid-lipofuscinosis (NCL) and whose brains were studied histologically, by electron microscopy and by pigmentoarchitectonic techniques. In addition, the brain of a 35-year-old woman, who died of familial protracted juvenile NCL, was also investigated using pigmentoarchitectonic methods. Clinical, light and electron microscopic findings were compatible with the above-mentioned diagnosis. Pigmentoarchitectural analysis of homotypical isocortex in these three brains revealed (1) loss of pigment-laden stellate cells in layer II, (2) axonal enlargements of layer IIIab-pyramidal cells, and (3) considerable cell loss in layer Va. The changes were more pronounced in the brain affected by protracted juvenile NCL than in the two brains affected by adult NCL. The study emphasizes the value of the pigmentoarchitectonic technique, both in diagnostic neuropathology and in ascertaining patients afflicted with adult NCL. The ultrastructure of the lipopigments showed a motley spectrum of membrane formation such as curvilinear, fingerprint, or straight membranes and was less granular than regular senile lipofuscin.

Adult↗

The Mafucci-Kast Syndrome. Dyschondroplasia with hemangiomas and frontal lobe astrocytoma.

The authors describe radiologic and pathoanatomic findings in the very rare Mafucci-Kast syndrome. In a 39-year-old Libyan patient multiple enchondromas of the fifth ray of the left hand were found with signs of malignant transformation. Furthermore, there were angiomas of the skin, of the soft meninges, and the bone. In addition, there was a low-grade malignant astrocytoma of the frontal lobe of the brain. Chromosome analysis revealed a normal male chromosome set. The tendency to develop malignant tumors which is repeatedly emphasized in the literature was also shown in the present case. The reason for this, especially for the high spontaneous rate of malignant transformation of multiple enchondromas, is unknown. The occurrence of angiomas and multiple enchondromas in cartilaginous performed bone suggests the presence of mesodermodysplasia.

Adult↗