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Biomedical subjects

L Palmucci

Publications and source records attributed to L Palmucci.

At least 55 records · Page 3Linked to original sources

A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: its advantages in muscle fibre typing.

A new method for Ca++-ATPase reaction in human muscle fibres is presented as an alternative to previous ATPase stains. The method is based on the use of metachromatic dyes, namely Azure A and Toluidine Blue, and has the advantages of speed, ease of performance and production of an elegant and clearcut fibre typing. The method distinguishes fibre types because of their metachromatic or orthochromatic staining, due to their different content of phosphate after incubation in the reaction medium. The comparison of serial sections stained by cationic dyes and by ammonium sulphide revealed close correspondence of fibre typing. Fibre type differentiation was also obtained with Acridine Orange; however this method was less reproducible.

Acridine Orange↗

Of ghost bodies and calcified globules: a common finding in the perineurium of adult human peripheral nerve.

Ghost bodies and calcified globules were found in the perineurium of three peripheral nerve samples. This is believed to be a rather common change, loosely age-dependent, and unrelated to the presence or absence of nerve pathology. Calcified globules are considered to be none other than so-called ghost bodies, which have evolved and become secondarily permeated with calcium salts. Ghost bodies of the perineurium are considered similar to or the same as the matrix vesicles of physiologic calcification and the analogous profiles of a variety of pathologic conditions.

Adult↗

Intra-astrocytic glycogen granules and corpora amylacea stain positively for polyglucosans: a cytochemical contribution on the fine structural polymorphism of particulate polysaccharides.

A cytochemical procedure for polysaccharides was carried out on a brain biopsy specimen, the thin-section study of which had shown excess glycogen granules and the corpora amylacea variety of polyglucosan bodies. Both granules and amyloid bodies were stained positively in contrast to the remaining structures of the brain tissue which remained unstained. This demonstrates that beta-granules as well as filamentous and amorphous components of amyloid bodies are just different aspects of the polysaccharide molecule. Up to now the same kind of cytochemical evidence has been supplied for Lafora bodies of human material and Lafora-like bodies of rat material. The present study on corpora amylacea of human material shows that amyloid, Lafora, and Lafora-like bodies all behave the same way when stained for polysaccharides.

Adolescent↗

A case of adrenoleukodystrophy in a girl. Genetic considerations.

We report the case of a girl who developed leukoencephalopathy and adrenal atrophy and died at 3 years of age. Histologically, demyelination, gliosis, perivascular lymphocytic cuffing and sudanophilia were present in the brain. The adrenal cortex was atrophic. Ultrastructurally, there were numerous cytoplasmic inclusions in brain macrophages, consisting of two leaflets separated by an intervening space of variable low electron density. Brain tissue cholesterol esters contained a high proportion of long chain fatty acids. The findings are discussed and compared with those in the literature. Emphasis is placed on the fact that the disease occurred in a girl in apparent contradiction to the commonly accepted X-linked hereditary transmission of adrenoleukodystrophy. Some possible genetic explanations for our case are put forward.

Adrenal Cortex↗

On the association of excess glycogen granules and polyglucosan bodies (corpora amylacea) in astrocytes of a 17-year-old patient with a neurologic disease of unknown origin: clinical, biochemical, and ultrastructural observations.

The case of a 17-year-old patient with a severe progressive neurologic disease is presented. Enzymatic studies revealed that total activity of both hexosaminidases A and B against the synthetic substrate was markedly reduced and that hexosaminidase B activity, studied by heat inactivation and isoelectric focusing, was even more reduced. Rectum and skin biopsies studied by electron microscopy were non-contributory. Brain biopsy was histologically normal. With electron microscopy many filamentous bodies were observed mainly in astrocytic processes; they were interpretable as intra-astrocytic polyglucosan bodies (the corpora amylacea variety of polyglucosan bodies). In addition, an excess of non-membrane-bound glycogen particles, mostly within astrocytes, was also present. Some degree of gliosis was noticed, as well as thickening and redundancy of the basement membrane of capillary vessels. The case is discussed and compared with the conditions described in the literature where either accumulation of glycogen or formation of polyglucosan bodies (corpora amylacea, Lafora-like bodies, Lafora bodies, Bielschowsky bodies, amylopectin bodies), or both occur. Since none of them, however, adequately fit the present case, it must remain undiagnosed.

Adolescent↗

The significance of minimal alterations in muscle biopsy of Duchenne carriers.

In order to define the significance of minimal histological and ultrastructural abnormalities in Duchenne carriers, 18 normal healthy volunteers were examined by muscle biopsy. Light microscopy evidenced occasional internal nuclei and less frequent small round and angular fibres. Variability of fibre size, increase in connective tissue, necroses and basophilia found in carriers were not present in controls. Histograms constructed on ATPase stain sections demonstrated variability in distribution of fibre types both in normals and in carriers. Fibre size was more variable in carriers, where a significant decrease of the size of type II B fibres was observed. Electron microscopy evidenced knots in overcontraction, myofibrillary widening, subsarcolemmal accumulation of mitochondria and Z band streaming, which have been reported also in carriers. The results are discussed and compared with the data of the literature.

Adult↗

Myoglobinuria: presentation of personal cases and review of the literature.

The presence of myoglobin in the urine is a symptom of rhabdomyolysis occurring in many muscular affections. Muscle tissue from seven patients who had presented one of more episodes of myoglobinuria has been studied by histological, histochemical, and biochemical methods. Three cases belonging to the same family and an additional one revealed a muscular CPT deficiency. Two of those cases were females. In two other cases a toxic etiology was suggested, one due to heroin and the other to associated fenfluramine and phenformin. In the last case the origin of rhabdomyolysis was not clearly defined and viral infection, drug intolerance or electrolytic imbalance were proposed. The cases are discussed in the light of the literature and the possible etiopathogenetic mechanisms are reviewed.

Adolescent↗

Epidemiology of Duchenne muscular dystrophy in the province of Turin.

An epidemiological investigation on Duchenne muscular dystrophy in Turin and its province has been carried out for the period 1955-974. The incidence of the disease proved to be 24 X 10(-5), and the prevalence 2.15 X 10(-5). The mutation rate was 80 X 10(-6). The data are compared with the literature. Segregation analysis on many families was performed in order to find the theoretical number of carrier among Duchenne mothers. The importance of epidemiology for genetic counselling is stressed.

Child↗

Motor neuron disease following poliomyelitis. Bioptic study of five cases.

5 cases of late motor neuron degeneration following poliomyelitis are presented. CPK, CSF, EMG and spine radiology were studied. In all cases, muscle biopsy evidenced neurogenic alterations both in previously affected limbs and in newly affected ones. Mitochondrial abnormalities were found in 1 case. The findings are discussed in the light of the literature with particular regard to the pathogenesis of the disease. The case with abnormal mitochondria is stressed for the possible relationship of this pathology with systemic degenerative diseases.

Adult↗

Analysis of some factors effecting survival in malignant gliomas.

Many factors, including the histological aspect, are known to effect the survival of patients with malignant gliomas. The relation between survival and diagnoses such as primary and secondary glioblastoma, anaplastic astrocytoma, etc., is not definitely clear. In 324 malignant gliomas the relationship between survival and age, sex, tumor pathology, occurrence of lymphoplasmacytic infiltrations, and size of the examined specimen was studied. Preoperative intervals of primary and secondary glioblastomas do not differ; anaplastic astrocytomas show definitely longer preoperative intervals and slightly but not significantly longer postoperative patient survival. The correlations are discussed, focusing on importance of knowing the survival times of untreated cases in order to evaluate the efficacy of chemotherapeutic drugs in malignant gliomas.

Adult↗

Mitochondrial abnormalities of late motor neuron degeneration following poliomyelitis and other neurogenic muscular atrophies.

A case of late motor neuron degeneration following poliomyelitis with abnormal mitochondria in muscle fibers is presented with two additional cases of systemic neurogenic muscular atrophy (Charcot-Marie-Tooth disease). Muscle biopsy revealed a neurogenic pattern of variable severity in all cases. Subsarcolemmal zones of hyperactivity and hyperpositive intermyofibrillar collections of granular material present in a variable proportion of type I fibers were demonstrated by oxidative enzymes. Ultrastructurally they corresponded to abnormal mitochondria, with paracrystalline inclusions in one case. The finding is discussed in the light of the previous literature on mitochondrial myopathies. Mitochondrial alterations are not specific and their significance in neurogenic conditions is debated.

Adolescent↗

Central core disease: histochemical and ultrastructural study of muscle biopsies of father and daughter.

Two cases of central core disease, father and daughter, of a family with dominant autosomal inheritance, are presented, one with bilateral congenital dislocation of the hip. Muscle biopsy was performed in both cases. Oxidative enzymes evidenced only type I fibers, most of them presenting a central core and not uncommonly more than one. On electron microscopy the cores generally appeared well demarcated from the surrounding fibrils and were characterized by lack of mitochondria and abnormalities of the Z line. Transitional aspects from normal fibers to completely unstructured cores were observed, as well as from well structured and unstructured cores. These findings are discussed in the light of the previous literature and particular attention is paid to the problem of differentiation between central core and multicore disease. The pathogenesis of the muscular alteration is also discussed in relation with the possibility of their neurogenic origin. Eventually, the histochemical and ultrastructural similarities between central cores and target fibers are focused.

Biopsy↗

Histochemical and ultrastructural findings in a case of centronuclear myopathy.

A case of centronuclear myopathy is presented. The presence of central nuclei in almost all fibres, the existence of type I fibres only, the histochemical pattern of a negative central zone with a perinuclear halo and a hyperactive rim with oxidative enzymes and the ultrastructural data are discussed in the light of the previous literature. The possible relationships with other myopathies are taken into consideration as well as the fact that central nuclei may be a non-specific change in several conditions. Consequently centronuclear myopathy could turn out to be a syndrome from which different entities can be isolated.

Adenosine Triphosphatases↗

Sporadic oculopharyngeal myopathy with abnormal mitochondria.

A case of late onset ophthalmoplegia and dysphagia is presented. Serum enzymes, ECG, EEG, thyroid function and edrophonium test were normal. Muscle biopsy revealed the presence at oxidative enzymes of 5% of fibres displaying subsarcolemmal hyperactivity and a coarse network pattern, mainly involving type II fibres. At electron microscopy mitochondrial abnormalities with paracrystalline inclusions were detected. The case is discussed in the light of the heterogeneity of ocular myopathies and their overlapping both with one another and with the so called mitochondrial myopathies.

Deglutition Disorders↗

The significance of atypical mitoses in malignant meningiomas.

A group of 5 selected malignant meningiomas was studied in relation to the incidence and morphology of the mitoses. Beside a high mitotic rate many structural chromosomal abnormalities were observed. In agreement with other malignant onco-types previously studied, the authors suggest that atypical mitoses together with a tissue and cytological undifferentiation may be assumed to be an important prognostic criterium for meningiomas. The problem of malignancy in meningiomas has not been, so far, satisfactorily resolved, so that, in our opinion, the definition of even minimal details may be of some interest. For example, as it clearly appears from reviewing the literature on this sugject, no particular attention has been paid to the mitotic features. Referring to previous studies on the mitotic abnormalities in different malignant cerebral onco-types, the authors aimed to examine the various mitotic aspects in a limited group of tumors selected on the basis of clinical and histological malignancy.

Adult↗

The microglia in brain granulomatoses. Histo-enzymological study.

The microglial participation in the different granulomatous processes was studied by silver impregnation techniques and histoenzymological methods. In florid granulomatous areas two types of metallophilic cells were detected, corresponding to the common macrophages and perhaps to the ameboid modification of the microglia. Hydrolytic enzyme preparations showed a pattern of distribution and intensity similar to that of the impregnated cells. Only in the adjacent nervous parenchyma the different methods evidenced the presence of hyperplastic ramified microglia associated with reactive astrocytes.

Brain Diseases↗