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Biomedical subjects

G Scarlato

Publications and source records attributed to G Scarlato.

At least 235 records · Page 13Linked to original sources
PubMed1984

Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures.

Muscle was cultured from a 7-month-old boy affected by generalized weakness, macroglossia, cardiomegaly, hepatomegaly and increasing dyspnea. Muscle biopsy showed a vacuolar myopathy with glycogen accumulation (Pompe's disease). The muscle was cultured to verify whether the abnormality could be expressed in culture during myogenesis. In the living muscle cultures, phase-contrast microscopy revealed that myotubes as young as two weeks were vacuolated and that the vacuolization was higher in the older cultures compared to parallel control cultures. Fluorescent microscopy by acridine orange staining of the cultures showed a marked increase in acridine orange positive material (presumptive lysosomes) throughout the sarcoplasm. Electron microscopic data revealed myofibrillar destruction in the muscle biopsy and vacuolized cytoplasm in the Schwann cells. Cytochemically, the patient's myotubes stained very intensely for acid phosphatases. The increased acid phosphatase activity was quantitatively confirmed by cytophotometric evaluation performed on patient and control parallel myotubes. This is the first evidence that an increase in acid phosphatases has been quantitatively demonstrated in cultured muscle from a patient with acute infantile onset acid maltase deficiency (Pompe's disease) although the enzymatic activity was assayed at only one time of incubation.

Cells, Cultured↗
PubMed1983

Idiopathic inflammatory polyradiculoneuropathy: evaluation of clinical and laboratory data and therapeutic considerations.

The clinical, immunological and neurophysiological data on 54 patients with idiopathic inflammatory polyradiculoneuropathy (IIP) are reviewed in order to reach a correct diagnostic and therapeutic approach. 49 of these patients presented acute and 5 recurrent IIP. Of the acute cases 10 patients had a severe course with paralysis of all limbs and respiratory insufficiency, and 3 died. An increase in CSF total proteins and impairment of nerve motor conduction velocities proved to be valuable tests for the diagnosis of IIP; these tests usually become more significant after 2 or 3 weeks of illness. Steroid treatment did not prove to be effective, while two patients with acute and progressive IIP, subjected to plasmapheresis, showed rapid and steady improvement. In these two patients the plasmapheresis was associated with azathioprine.

Adolescent↗
PubMed1983

Syndromes of abnormal muscular activity: overlap between continuous muscle fibre activity and the stiff man syndrome.

Four patients with muscular pain, fasciculations, contractures or cramps are presented. Evidence of peripheral nerve involvement was revealed by electromyography and nerve conduction studies. Muscle biopsy showed mild signs of denervation and reinnervation and, at electron microscopy, dilatations of terminal cisternae were found. All patients showed a remarkable improvement after therapy with diphenylhydantoin or carbamazepine. These clinical, neurophysiological and morphological data underline the role of peripheral nerve pathology in various syndromes of abnormal continuous muscular activity.

Adult↗
PubMed1982

Familial nemaline myopathy.

Two sisters with congenital nemaline myopathy are described. In both cases almost 70% of muscle fibers contained rods which were selectively localized in the larger ones. The variability coefficient was abnormally increased. Histochemical reactions showed that almost all the muscle fibers were type 1. In one case many fibers contained one or more core-like lesions. The parents and two siblings of the patients were clinically normal; EMG examination also showed normal motor unit potentials. Muscle biopsy was normal in the father; in the mother a slight type 1 predominance was detected without rods or other signs of myopathy. The disease seems to be transmitted by an autosomal recessive trait, although incomplete penetrance of a dominant trait cannot be excluded.

Biopsy↗
PubMed1982

Lymphocyte subpopulations and surface membrane immunoglobulins in myasthenia gravis.

Lymphocyte subpopulations were studied in 16 myasthenic patients by means of E and EA7s rosettes and surface membrane immunofluorescence. Myasthenic patients showed an increase in lymphocytes with surface IgM an IgD when compared to a control group. In female patients this increase was highly significant, and lymphocytes bearing membrane IgG and IgA were also augmented. No difference was found in male patients when compared with sex-matched controls. These results suggest an activation of the B cell compartment restricted to female patients, and support the hypothesis of different immunopathogenetic mechanisms in this disease.

Adult↗
PubMed1982

Fast to slow change of myosin in nemaline myopathy: electrophoretic and immunologic evidence.

Muscle biopsies from two familial and one sporadic case with congenital nemaline myopathy and seven healthy family members were examined for myosin composition. Myosin was characterized with respect to light chain (LC) composition by one-dimensional and two-dimensional electrophoresis, and by immunologic methods (enzyme-linked immunosorbent assay [ELISA]), using specific antibody for rabbit fast myosin LCl (LC1F). Type I fiber predominance was associated with the substitution of a hybrid, predominantly "slow" to a virtually pure "slow" myosin LC pattern for the "mixed" pattern found with myosin of normal muscle. Muscle myosin from the relatives had apparently normal light chain composition.

Adult↗