Sporadic distal myopathy with early adult onset. A case report with morphological alterations of mitochondria.
Explore the source record for details and available documents.
Humans↗
Biomedical subjects
R Scelsi
Publications and source records attributed to R Scelsi.
[Epidemiology of cerebral gliomas].
In the present review the results of the main epidemiologic studies on cerebral gliomas are reported. Various characteristics of patients, i.e. endogenous factors including age, sex, familiarity and constitutional factors, and exogenous factors including perinatal and infectious diseases, trauma and geographic and environmental findings, are considered in turn.
ABO Blood-Group System↗
Hemiplegic atrophy. Morphological findings in the anterior tibial muscle of patients with cerebral vascular accidents.
Anterior tibial muscle biopsies of the hemiplegic side of 16 patients with a cerebrovascular accident in the middle cerebral artery region were analyzed qualitatively and quantitatively by enzyme histochemistry and electron microscopy. Patients grouped according to the time lapsed as from the occurrence of the accident (1-17 months) demonstrated a progressive decrease in the fiber diameter and changes in fiber type distribution with predominant type II atrophy and type I predominance. Nuclear internalization, myopathic alterations, and perifascicular fatty infiltrations were observed constantly. In the affected fibers the ultrastructural findings were myofibrillar alterations with the formation of rods and cytoplasmic bodies. There was accumulation of lipofuscin, glycogen, and lipid droplets. Microvascular changes were observed frequently. Biopsies from the asymptomatic legs were either normal or showed age-related muscle alterations. Correlation was noted between the clinical and functional status of the patients and the morphological aspects seen in muscle biopsies.
Adult↗
Detection of myopathies in children by 1H nuclear magnetic resonance (NMR) and comparison with histopathological patterns.
Report of a study of primary myopathies in children conducted within the framework of our program to evaluate the diagnostic potential of 1H NMR in muscular diseases. There are substantial differences in the in vitro 1H NMR response of skeletal muscles between normal children and children with congenital non progressive myopathies and Duchenne muscular dystrophy.
Child↗
Peculiar congenital myopathy in two siblings. Congenital fibre type disproportion or type II fibres hypotrophy?
Explore the source record for details and available documents.
Humans↗
Ophthalmoplegia plus: CSF and CT features of seven cases.
The authors describe the clinical and laboratory results relative to 7 cases of Ophthalmoplegia Plus, with special reference to the histochemical, ultra-structural and CFS findings and to the data obtained by Computerized Tomography (CT) of the brain. The CSF was altered in all the examined patients: 3 out of 7 presented an abnormal albumin quotient, 1 patient had an increased IgG Index; the isoelectrofocusing of the CSF proteins, carried out in 6 out of 7 cases, showed an abnormal protein content referred to gamma trace in 3 cases, oligoclonal bands in the CSF in one case, a double Tau fraction in one case, a damaged blood-brain barrier in 5 cases. The CT-performed in 6 out of 7 cases-revealed in one patient a diffuse hypodensity of the periventricular white matter, without signs of atrophy; 2 cases showed a mild atrophy of the posterior fossa involving the cerebellar hemispheres and vermis in one case, the vermis and the brain stem in the other one; no patient revealed signs of cortical or ventricular atrophy. The boundaries of the Ophthalmoplegia Plus are here discussed on the ground of the results obtained by the employment of the various research methods.
Adult↗
Detection of neurogenic muscle diseases by in vitro 1H nuclear magnetic resonance (NMR) and comparison with histopathologic patterns.
This paper deals with the possibility of using proton (1H) NMR as a diagnostic tool for discriminating between normal and diseased tissues. As an example, we analyze in vitro the 1H NMR response of muscle from patients with neurogenic muscle diseases. It is suggested that there is correlation between the tissue morphology and some details of the proton relaxation processes. Our findings can be of relevance to a clinical application of NMR tomography.
Biopsy↗
Electroencephalographic findings in patients with chronic progressive external ophthalmoplegia.
A retrospective study of the electroencephalographic patterns in 26 adults with chronic progressive external ophthalmoplegia. 12 of them presented EEG anomalies, all slight and aspecific. Of the various parameters considered (age, age at onset, duration of disease, CT, CSF findings, abnormalities of muscle mitochondria) the only two that seem to correlate are altered EEG patterns and severity of mitochondrial anomalies in skeletal muscle tissue.
Adult↗
Nuclear magnetic resonance response of protons in normal and pathological human muscles.
An in vitro study of the nuclear magnetic resonance (NMR) response of protons in normal and pathological human skeletal muscle is presented. Muscle biopsies from 34 patients with various neuromuscular diseases and five normal subjects were studied by proton NMR techniques and the results were compared with those of light and electron microscopy. Proton spin-lattice relaxation time (T1) and recovery law for the nuclear magnetization have been determined at 37 degrees C and 43.5 MHz. The T1S for normal tissues were in the 650 to 800 ms range and the recovery process was nearly exponential. Muscles with well defined neuromuscular diseases were associated with highly nonexponential relaxation processes. The relationship between morphological alterations of the muscle tissues and the proton NMR response may become the basis of a fast and simple method for the diagnosis of neuromuscular diseases.
Humans↗
Blood cells glutathione peroxidase activity and selenium in multiple sclerosis.
In the present study, the plasma and erythrocyte Se concentration and the erythrocyte and leukocyte glutathione peroxidase (GSH-Px) activity in 20 patients affected by multiple sclerosis (MS) were compared with those of a group of healthy controls. The Se concentration in the food was also studied and found to be less than the minimum values suggested by the US Food and Nutrition Board. The erythrocyte Se levels were found to be similar in both MS patients and in controls, while the plasma Se values were higher in the MS patients. The Se-dependent GSH-Px activity in the erythrocytes was found to be lower in the MS patients while no difference was found in the two groups as far as the leukocytes were concerned. Our data confirm that of other authors and indicate that the modified GSH-Px activity found in erythrocytes of MS patients is independent from the Se concentration and probably due to genetic factors.
Adult↗
Peripheral nerve function in rats chronically treated with carbamazepine.
Explore the source record for details and available documents.
Animals↗
Fluorescence histochemical patterns of Purkinje cell layer in rat cerebellum after long-term phenytoin administration.
The effects of long-term Phenytoin (DPH) administration were studied on the cerebellum Purkinje layer of Sprague-Dawley rats. Histochemical qualitative studies were performed in order to investigate fluorescence patterns linked to degenerative pigment storage and to changes in biogenic amines. Specific tests for Falck's method and the microspectrofluorometric analysis of fluorescent bodies showed: a) an increase in storage lipopigment which, generally referred to in the literature as lipofuscin, partially exhibit a more complex structure due to the simultaneous presence of lipofuscin and ceroids in the same granular body; b) a change in neurotransmitter patterns. This change must be typically related to an altered metabolism of biogenic amines and/or to degenerative phenomena causing the accumulation of biogenic amines in nerve terminals. The morphological and histochemical pictures support the idea of a generalized Purkinje cell damage.
Animals↗
Muscle fiber type morphology and distribution in paraplegic patients with traumatic cord lesion. Histochemical and ultrastructural aspects of rectus femoris muscle.
Biopsies of the rectus femoris muscle of 22 paraplegic patients with complete acute spinal cord transection due to trauma were taken for enzyme-histochemical and electron-microscopic studies in successive stages starting from occurrence of the accident (1-17 months). Ingravescent muscular atrophy was demonstrated with a progressive decrease in the fiber diameter and changes in the fiber type distribution with predominant type II atrophy in the first stage and type I atrophy in the later stage of the cord transection. Muscular "neurogenic" changes, such as angular dark atropic fibers, targetoid fibers, and type predominance are frequently observed. Myopathic alterations are observed in a low percentage in the later stages of the lesion. The ultrastructural findings are characterized by myofibrillar alterations and by dilatation and proliferative phenomena of the sarcoplasmic reticulum and T-system. There are ingravescent accumulation of lipid, interstitial fibrosis and microcirculatory alterations. The possible mechanism of "central" muscle atrophy is reviewed and discussed with reference to the morphological findings.
Adolescent↗
Chronic progressive external ophthalmoplegia. Clinical, electrophysiological, histochemical and ultrastructural studies of 14 cases.
Clinical, histochemical and ultrastructural findings concerning 14 cases with diagnosis of Chronic Progressive External Ophthalmoplegia are described. According to the clinical features the patients have been rated in two groups: the first including subjects with isolated ptosis or ptosis with external ophthalmoplegia and the second including subjects with a spreading of the muscular deficit and involvement of the neck and limbs. The most frequent histological and histochemical features are type I fibre atrophy, ragged-red fibres, DPNH-diaphorase reaction disorders and abnormal accumulation of lipids into the fibres. Electron microscopy reveal myofibrillar disorganization and clusters of polymorphous, abnormal mitochondria. In five cases mitochondria contain a variety of crystalline inclusions. Correlations between clinical data and histochemical and ultrastructural findings are discussed. Mitochondrial abnormalities are postulated to be a characteristic physiopathological pattern in CPEO.
Adult↗
Neuromuscular diseases associated with benign monoclonal gammopathy. Study of CSF and serum proteins by isoelectric focusing.
In over 1200 cases examined by isoelectric focusing of CSF and serum proteins, 4 patients had benign monoclonal gammopathy. These patients were affected by amyotrophic lateral sclerosis of bulbar onset, sensitive neuropathy of Thevenard type, myasthenia gravis, and limb-girdle muscular dystrophy, respectively. The difficulty to relate the differences in the clinical features of these cases to a common physiopathological mechanism and the incidence of this finding (0.4% in 873 cases ranging from 21-60 years of age) do not seem to suggest any pathogenetic relationship between benign monoclonal gammopathy and the different neurological disorders encountered in these patients.
Adult↗
Effects of lithium administration on central and peripheral nervous system in rats. Biochemical and morphological findings.
The effect of 4 weeks' treatment with lithium chloride on the central and peripheral nervous system of Wistar albino rats was studied. Normal activity values of some brain enzymes related to energy transduction (LDH, MDH, COX, NADH-ccRT) and neuro-transmission (ACHe), evaluated both in the homogenate in toto and in the crude mitochondrial fraction, were obtained. Fine changes in mitochondrial organelles and nerve processes of neurocytes were ultrastructurally observed. The peripheral nerve studies revealed in some treated rats a slight motor nerve conduction velocity impairment by electro-physiological methods, but no significant alterations in the sciatic nerve specimens examined by electron microscopy.
Animals↗
An ocular myopathy with glycogen storage and abnormal mitochondria in muscle fibres. Histochemical and ultrastructural findings.
The case of a 66-year-old woman with progressive external ophthalmoplegia and involvement of the proximal muscles of the upper and lower limbs is described. EMG examinations show signs of myopathic involvement. Histochemical and biochemical studies exclude a primary defect in glycogenolysis. The authors stress the peculiarity of the histochemical findings, characterized by the rare associated appearance of both mitochondrial changes and glycogen accumulation in muscle fibres. The most prominent ultrastructural findings are evidence of increased glycogen, usually present in vesicles or in mitochondria, and changes in number, size and structure of mitochondria. Quantitative biochemical examination of muscle homogenates confirmed the increased content of glycogen in muscle fibres.
Aged↗
Industrial neuropathy due to n-hexane. Clinical and morphological findings in three cases.
Three cases of motor polyneuropathy due to industrial exposure to an adhesive agent containing 80.4% of n-hexane as the volatile substance are described. Histological and ultrastructural studies on sural nerve reveal alterations of both myelin sheaths and axons of large diameter fibers, with segmental swelling and increase of neurofilaments. In the muscle specimens there is a pattern of denervation atrophy with focal degenerative-inflammatory changes. Some differences between the present cases and those previously described in the literature are discussed.
Adhesives↗