Biomedical subjects

E E Calore

Publications and source records attributed to E E Calore.

42 records · Page 3Linked to original sources

PubMed1994

Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family.

Three members of a family with a hereditary neuropathy were studied. Light, electron microscopy and teasing of isolated fibres were performed. The findings confirmed the clinical and electrophysiological hypothesis of hypertrophic form of Charcot-Marie-Tooth disease. Hypertrophy of Schwann cells with the formation of onion bulb figures as the most evident ultrastructural feature, besides demyelination, remyelination and mild axonal degeneration. Recent data about the genetic transmission and pathogenesis of the hereditary motor and sensory neuropathies (HMSN) are discussed.

Adult↗

PubMed1994

Hyperthermic reaction to haloperidol with rigidity, associated to central core disease.

A 21-year-old female patient with psychotic symptoms developed hyperthermia, muscular rigidity and hypertension after administration of haloperidol. A muscle biopsy showed some atrophic and necrotic fibers, and a great number of fibers with central cores in the oxidative enzyme preparations. A related syndrome, Malignant Hyperthermia (MH), is sometimes associated with central core disease. The present case shows an association of a hyperthermic syndrome related to haloperidol with central core disease.

Adult↗

PubMed1992

Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies.

In order to evaluate the developmental status of myofibers in 3 cases of adult centronuclear myopathies (CNM) with type I predominance, we searched for the expression of (a) developmentally regulated cytoskeleton proteins (myosin heavy chains (MHC), vimentin, desmin), and (b) cell surface molecules (neural cell adhesion molecules isoforms, NCAM). Desmin intermediate filaments were overexpressed in some fibers with centrally located nuclei and radially organized. Muscle fibers do not express vimentin. These findings were not observed in muscle biopsies from disease controls with numerous central nuclei. Few myofibers (less than 5%) expressed developmental MHC together with either embryonic NCAM or adult NCAM and rare fibers only expressed adult NCAM. Most of the remaining fibers neither expressed NCAM nor developmental MHC but were slow MHC positive. These features do not favor the hypothesis of a general arrest of muscle fiber maturation in adult CNM. It is more likely that fibers undergo a very slow developmental process with a long delay of innervation as shown by some fibers with NCAM expression. Nevertheless, innervation appears to be successful, as suggested by the large number of NCAM negative fibers. Moreover, the abnormal myofiber distribution could be related to this functional disturbance of innervation.

Adult↗

PubMed1992

[Polysaccharide amylopectin-type storage myopathy].

We report a late onset form of polysaccharide myopathy with progressive limb girdle muscles weakness, without cardiomyopathy. Muscle biopsy showed a vacuolar myopathy in type 1 fibres. The PAS positive diastase resistant deposits were made of filamentous material at electron microscopy similar to long chain glycogen. Muscle glycogen levels and glycogen metabolism enzymes were normal. Numerous abnormal mitochondrial with paracrystalline inclusions were observed around the storage material. Twelve patients with polysaccharide amylopectin-like storage myopathy have previously been reported. This disease must be distinguished from other diseases with polysaccharide accumulation such as branching enzyme deficiency and some cases of phosphofructokinase deficiency. In other disorders, no deficient enzymes in the glycogen pathway was found. Some of them show systemic storage (Lafora disease, adult polyglucosan body disease). Corpora amylacea, Bielchowsky bodies and basophilic degeneration of the myocardium represent localised depositions. A few inclusions can also be observed in hypothyroid myopathy. In polysaccharide myopathy allosteric inactivation of phosphofructokinase by a mitochondrial dysfunction is considered by analogy with cases of polysaccharide storage related to phosphofructokinase deficiency.

Aged↗

PubMed1992

[Inclusion body myositis and neuromuscular diseases with rimmed vacuoles].

A retrospective study of 40 patients with various neuromuscular disorders and more than 3 muscle fibers with rimmed vacuoles has been performed. Two subgroups of patients were distinguished according to the presence or absence of inflammatory exudates. In the first group (14 patients), inflammatory exudates were observed and numerous fibers showed partial invasion. Abnormal filamentous inclusions (16-18 nm in diameter) were found by electron microscopy in muscle fibers cytoplasm and/or nuclei. The diagnosis of inclusion body myositis (IBM) was made in these cases. They presented with insidious proximal muscle weakness and were not improved by immunosuppressive therapy. Immunohistological studies demonstrated T lymphocytes predominance, only few natural killer and B lymphocytes. The number of T8 lymphocytes was high in endomysial sites while T4 were more numerous in perivascular exudates. Abnormal membranous expression of class I MHC antigens was observed on muscle fibers lying near the inflammatory exudates. In the second group of cases (26 patients), no inflammatory exudate was observed. This group of neuromuscular diseases with rimmed vacuoles was heterogeneous. In 10 cases, abnormal filamentous inclusions (16-18 nm in diameter) were observed in rimmed vacuoles. However, this ultrastructural feature did not help in distinguishing subgroups. Various neuromuscular disorders were observed in this group: oculopharyngeal muscular dystrophy (12 cases with IBM like filaments in 4 cases), chronic spinal atrophy (5 cases with IBM like filaments in 3 cases), post poliomyelitis syndrome (2 cases with IBM-like filaments in one), muscle glycogenosis with IBM like filaments (2 cases), hereditary limb girdle myopathy or distal myopathy (3 cases) and 1 patient clinically presenting with polymyositis and another with cramps and myalgias. No abnormal sarcolemmal expression of class I MHC was found in this group. The pathogenesis of IBM is discussed. Besides T cell mediated cytotoxicity, denervation may be involved. The nature of the abnormal 16-18 nm filamentous inclusions remains unknown. These filaments are not IBM specific.

Adult↗

PubMedDate not supplied

Muscle pathology in juvenile dermatomyositis.

OBJECTIVE: To study muscle biopsies, using histochemistry, on ten children with infantile dermatomyositis. DESIGN: Series of ten patients (of whom eight patients had received treatment and two had not) were submitted to muscle biopsy in order to diagnose possible inflammatory myopathy or to detect recurrences. PLACE OF DEVELOPMENT OF THE STUDY: Public Health Service of São Paulo State. PARTICIPANTS: Children with clinical features of inflammatory myopathy. INTERVENTION: Biopsies were performed on the vastus lateralis using local anesthetic. Histochemistry was performed according to standardized methods. RESULTS: Architectural changes of the muscle fibers, necrosis of variable intensity and accentuated evidence of regeneration were observed in patients who had not received treatment (2 cases) and in one case where muscular weakness persisted in spite of corticosteroid therapy. Necrosis and regeneration were minimal or absent in cases treated for one year or more (4 cases). In 3 cases with clinical and laboratorial recurrences, muscle necrosis and architectural changes were detected. CONCLUSIONS: It was concluded that muscle biopsy could aid in diagnosing infantile dermatomyositis as well as in detecting recurrences even in cases without clinical activity of the disease.

Adolescent↗