Biomedical subjects
G Scarlato
Publications and source records attributed to G Scarlato.
Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues.
We report biochemical, immunological, and morphological findings in a patient with fatal Kearns-Sayre syndrome. Histochemical and biochemical findings from muscle biopsy specimens obtained 7 years apart documented the disease's evolution from a mild mitochondrial disorder affecting a small proportion of muscle fibers to a severe disorder affecting a large proportion of muscle fibers. Cytochrome c oxidase activity in muscle declined profoundly as the disease progressed, although the level of enzyme protein was normal, as shown by immunochemical techniques. Other organs were severely affected by the disease. Examination of postmortem tissue showed spongiosis in the frontal cortex, diffuse loss of Purkinje cells in the cerebellum, liver steatosis, and heart fibrosis with mitochondrial abnormalities. Cytochrome c oxidase activity was only slightly reduced in these organs.
Visual evoked potentials in patients with neuropathy and macroglobulinemia.
Visual evoked potentials were studied in 11 patients with neuropathy and macroglobulinemia. The P100 latency was increased bilaterally in 5 of the 6 patients whose IgM M-proteins reacted with myelin-associated glycoprotein (MAG) and in 1 of the other patients. In patients whose M-protein bound to MAG, abnormal visual evoked potentials correlated with the presence of the M-protein in the cerebrospinal fluid. Subclinical involvement of the central nervous system is frequent in patients with neuropathy and anti-MAG M-proteins and may be due to the binding of M-proteins to central nervous system myelin.
ALS cerebrospinal fluid enhances human foetal astroglial cell proliferation in vitro.
Explore the source record for details and available documents.
Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.
In a new case of carnitine palmityl transferase (CPT) deficiency the defect was documented in muscle and muscle cultures with an isotope exchange reaction, using different concentrations of palmityl-DL-carnitine and a forward reaction with and without albumin. The defect was expressed in cultured skin fibroblasts only by the "reverse" and "hydroxamate" reactions. The parents and the patient's daughter had intermediate levels of the enzyme in platelets and fibroblasts, supporting the concept that CPT deficiency has an autosomal recessive pattern of inheritance. The growth pattern and development of muscle cultures in this CPT-deficient patient indicate that CPT activity may be sufficient to allow normal muscle differentiation in culture without lipid storage.
Myasthenia gravis treatment: twelve years experience on 110 patients.
The clinical conditions of 110 patients affected by myasthenia gravis (MG) were followed from two to twelve years. Patients with thymectomy showed a statistically higher percentage of clinical remissions than patients without thymectomy. In patients without clinical remission immunosuppressive drugs were prescribed in different schedule; the greater percentage of pharmacological remissions with less adverse effects was obtained with administration of prednisone 50-75 mg/die initially, than gradually reduced to smaller dosage in alternate day, associated to azathioprine. Plasmapheresis, performed in six cases not responders to immunosuppressive drugs, always showed a positive and even prolonged effect.
Biochemical and immunologic studies in a case of congenital myopathy with unusual morphologic features.
Mitochondria and myosin were isolated from a muscle biopsy of a 9-year-old boy with an unusual congenital myopathy characterized by type I fiber uniformity, jagged Z-line, and transverse network hypertrophy of mitochondria. Biochemical examination of isolated mitochondria showed that only citrate synthase activity was significantly reduced. Electrophoresis of myosin heavy chains and immunoenzymatic analysis of myosin heavy and light chains with antibodies specific to either fast or slow myosins showed that only the slow-type isoform of myosin was detectable. Indirect immunofluorescence of muscle biopsy showed that all muscle fibers homogeneously expressed only the slow type of myosin.
Peripheral neuropathy in macroglobulinemia: incidence and antigen-specificity of M proteins.
Peripheral neuropathy was found in 12 (46%) of 26 patients with macroglobulinemia. The neuropathy was subclinical in two. Anti-myelin-associated glycoprotein (MAG) activity was found in six (50%) patients with neuropathy. Sural nerve biopsies showed demyelination and IgM deposits on the myelin sheath. In one patient who had no anti-MAG activity, the serum IgM bound to peripheral myelin by indirect immunofluorescence and to several protein bands in peripheral nerve and other tissues by immunoblot. In the other five patients with neuropathy, we found no binding of M proteins to nerve components, but in three patients there were endoneurial IgM deposits in nerve biopsy. Peripheral neuropathy may be related to the antigen-specificity of M proteins.
Human Schwann cells: cytochemical, ultrastructural and immunological studies in vivo and in vitro.
Cytochemical, ultrastructural and immunological properties of human Schwann cells were studied in normal adult and foetal nerve sections and in tissue cultures. As specific markers for Schwann cells we used S-100 protein and laminin. The presence of Sudan black-positive, Oil Red-O-negative material was found in Schwann cells in vitro. Structural features, examined at E.M. level, are described. This information may be useful in nerve tissue culture studies, a new tool for the investigation of dyschwannian neuropathies.
Neurophysiological problems in poliomyelitis diagnosis: a case report.
Explore the source record for details and available documents.
Cytogenetic analysis and muscle differentiation in a girl with severe muscular dystrophy.
The uncommon case is described of a girl severely affected with Duchenne muscular dystrophy. Cytogenetic analysis revealed no numerical or structural abnormalities of the X-chromosome in any of the cells examined (leucocytes and myoblasts). No abnormality in morphology, growth pattern or differentiation was observed in the dystrophic muscle cultures as compared with control cultures.
S-100 protein and laminin: immunocytochemical markers for human Schwann cells in vitro.
Human fetal and adult Schwann cells, which had been maintained in culture for 5 weeks according to an explant-reexplantation technique, were labeled by immunoperoxidase using antibodies directed against S-100 protein and laminin in order to find specific antigenic markers. Immunocytochemical analysis of the distribution of both proteins showed that they were expressed in long-term cultures. The localization of S-100 protein and laminin in long-term cultures indicated that the expression of these proteins by human Schwann cells was not axon-dependent and also occurred in absence of myelin synthesis.
Failure to detect anti-MAG antibodies by RIA in CSF of patients with multiple sclerosis.
Using a sensitive double-antibody radioimmunoassay (RIA) we measured IgG antibodies to the myelin-associated glycoprotein (MAG) in cerebrospinal fluid (CSF) of patients with active multiple sclerosis (MS) and with other neurological diseases (OND). Comparable levels of precipitation of radiolabeled MAG were obtained with CSF from the patients of the two groups.
Myosin light chains and muscle pathology.
We evaluated the isoform composition of heavy and light chains of myosin in single muscle fibers from patients with Duchenne dystrophy, myotonic dystrophy, or polymyositis. In all myopathic muscles, there was an increase in the proportion of intermediate fibers which, by analysis of myosin isoforms, fell into two subpopulations, one that contained both fast and slow myosin and another that contained myosin molecular hybrids. The increased proportion of intermediate (or transitional) fibers suggests changes in the equilibrium between fast and slow motor units. These changes could result from regeneration and subsequent maturation of fibers or from direct transformation of mature fibers of one type into the opposite.
Analysis of fibronectin expression during human muscle differentiation.
Fibronectin expression during human muscle differentiation was investigated by determining its distribution in foetal, normal adult and dystrophic muscle and in foetal, normal adult and dystrophic muscle cultures during myogenesis. Muscle sections and muscle cultures were studied by indirect immunofluorescence staining using polyclonal and monoclonal anti-human antibodies. Mass and clonal muscle cultures were prepared from foetal, adult and dystrophic muscle tissue. Immunofluorescence staining detected fibronectin on the epimysium, perimysium and endomysium of transverse sections of normal adult muscle, while sarcoplasm was devoid of this glycoprotein. In foetal muscle, some fibers showed a prominent ring of fibronectin. In mass and clonal cultures, myoblasts were found to synthesize and accumulate fibronectin while myotubes did not. No difference in fibronectin distribution was observed between Duchenne Muscular Dystrophy (DMD) and control myotubes. An enzyme-linked immunoassay (ELISA), performed on homogenated muscle, sonicated fibroblasts and muscle cells, showed a high fibronectin level in fibroblasts when compared with the other samples tested.
A case of congenital neuromuscular disease with uniform type I fibers, abnormal mitochondrial network and jagged Z-line.
Histological, histochemical and ultrastructural studies of muscle biopsy in a case of congenital neuromuscular disease revealed unusual findings consisting of muscle fibers uniformity which were all type I and of small diameter, jagged Z-line and abnormally developed transverse network of mitochondria. E.M.G. examination demonstrated a myopathic pattern, but mitochondrial changes are quite different from those reported in mitochondrial myopathies and jagged Z-line seems poorly correlated with Z-line streaming present in denervation atrophy, target fibers, core-like lesions or other Z-line abnormalities of the nemaline myopathy. On the other hand type I histochemical uniformity seems more likely related to some dysfunction of the neuronal mechanisms that control both the fiber type differentiation and other trophic influences. It also suggests that myogenic E.M.G. pattern might actually be pseudo-myopathic and due to a reduction of the cross sectional area of the individual muscle fibers composing the motor unit.
Digital subtraction angiography in patients with cerebral ischaemic attacks and normal continuous wave Doppler studies.
The cervico-cranial arteries were studied using digital subtraction angiography in 50 patients with reversible cerebral ischaemic attacks and normal continuous wave Doppler examination. Digital subtraction angiography was able to visualise the arteries satisfactorily in 45 patients (90%), and revealed minor arterial abnormalities in 12 patients (24%). However, neither occlusions nor stenoses greater than 50% of the diameter of the vessel lumen were found. Although digital subtraction angiography is more accurate than continuous wave Doppler examination in detecting arterial lesions, it did not provide alternative therapeutic choices in any of these patients.
Slow myosin heavy chain isozyme in nemaline myopathy.
Muscle biopsies from two sporadic cases of congenital nemaline myopathy were examined for myosin heavy chain composition. Electrophoresis of congenital nemaline myopathy (CNM) muscle myosin in SDS-5% polyacrylamide gels gave rise to a single heavy chain band, with a migration rate and antigenic properties identical to that of the adult slow form, as demonstrated by Western blot techniques and by using specific antibody. Immunofluorescent studies indicate that CNM muscle fibers, including the most severely atrophic fibers, are homogeneous with respect to myosin heavy chain composition.