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Biomedical subjects

G Galassi

Publications and source records attributed to G Galassi.

At least 37 records · Page 2Linked to original sources
PubMed1989

Familial pseudotumor cerebri in male heterozygous twins.

Papilledema due to raised intracranial pressure in absence of intracranial mass arose roughly at the same time in 2 male heterozygous twins. The diagnosis of benign intracranial hypertension (BIH) was confirmed by the finding of normal cerebrospinal fluid and high opening pressure. Neurologic examination was normal. In both cases choroidal folds were evident. The relationship between BIH and genetic factors is discussed.

Diseases in Twins↗
PubMed1989

Electrophysiologic study of experimental demyelination induced by serum of patients with IgM M proteins and neuropathy.

We induced progressive conduction block in feline sciatic nerve by endoneurial injection of serum from 2 patients with demyelinating neuropathy and an anti-myelin-associated glycoprotein (MAG) IgM M protein. The block was longlasting (up to 4 days) and affected about half the motor nerve fibers. Control serum from patients with an IgM M protein that did not react with MAG produced a transient block (less than 48 hours) that affected an average of 25% of motor fibers. Nerves with sustained block showed widespread demyelination of many nerve fibers, exceeding controls. The findings support the view that chronic demyelinating neuropathy in these patients is caused by the anti-MAG M protein.

Animals↗
PubMed1989

Dermal alterations in patients with Wilson's disease treated with D-penicillamine.

Wilson's disease is characterized by accumulation of copper and D-penicillamine favors its elimination. However, penicillamine binds to precursors of intermolecular crosslinks both in collagen and elastin, and could lead to alterations of these two fibrous proteins. In the present report skin biopsies from patients with Wilson's disease, treated with 900 mg/day of D-penicillamine, for 5, 9, 58 and 60 months, were studied by electron microscopy and compared with findings obtained from skin biopsies of age-matched normal subjects. Clinically, the elasticity and consistency of the skin of Wilson's patients was not modified by D-penicillamine treatment. The ultrastructural organization of collagen fibrils appeared normal in the adults treated with D-penicillamine for 5-9 months. In a 15-year-old girl, treated for 48 months, a high number of collagen fibrils were swollen and unreeved. Elastin fibers were altered in all patients. The alterations were mostly pronounced in the reticular dermis, were proportional to the time of treatment, and consisted of polymorphous aggregates of elastin connected to apparently normal elastin fibers. A stereological analysis, on EM pictures from the patient treated for 60 months, and from an age-matched control, showed a significant decrease in the percentage of collagen and of the mean area occupied by each collagen bundle in the reticular dermis of the patient compared to control; on the contrary, the number of elastin fibers per unit area increased significantly, and the mean area of each elastin fiber decreased. The volume density of elastin was similar to control. The results indicate that prolonged administration of penicillamine to humans induces alterations in the deposition of dermal collagen and elastin.

Adolescent↗
PubMed1987

High serum levels of creatine kinase: asymptomatic prelude to distal myopathy.

Two brothers and an unrelated man had serum creatine kinase values of 3000-8000 units when they were asymptomatic, and there was no weakness on examination. EMG and muscle biopsy showed changes indicative of myopathy. Years later, all three developed weakness that was limited to the gastrocnemius. Because siblings were affected, the disorder can be regarded as a form of muscular dystrophy. The distribution of weakness, serum enzyme changes, and histologic changes resembled an autosomal recessive distal myopathy first described by Miyoshi and differed from many other reported cases of distal myopathy. Our cases also indicate that myopathy may be asymptomatic.

Adolescent↗
PubMed1987

Muscle CT, biopsy and EMG in diagnosis of neuromuscular diseases.

The diagnostic value of EMG and muscle biopsy has been compared with muscle CT in 53 patients with neuromuscular diseases. CT concordance with clinical diagnosis was found in 62% of myopathies and was highest in Duchenne PMD and scapulo-peroneal myopathy and very low in metabolic and inflammatory myopathies. In neurogenic diseases muscle CT agreed with clinical diagnosis in 63% of patients: the highest concordance was found in acquired polyneuropathies.

Biopsy↗
PubMed1986

Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease?

Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progression, humeroperoneal weakness and wasting, limited neck flexion, elbow and ankle joint contractures, cardiopathy and myopathic pattern on EMG. Muscle histology and histochemistry showed type I fiber atrophy and predominance in both. Cardiac abnormalities, in the first case, were suggestive of a hypertrophic cardiomyopathy while in the second hypotension and chronic bradycardia were present. Neurological signs, EMG and morphology seemed to point to a genetic variant of the form of dystrophy named Emery-Dreifuss disease. The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.

Adolescent↗
PubMed1986

Sensory action potentials and biopsy of the sural nerve in the neuropathy of nonmalignant IgMk plasma cell dyscrasia.

Electrophysiological findings in 10 patients with polyneuropathy and nonmalignant IgMk plasma cell dyscrasia are reported. The amplitude of sensory action potentials and maximum conduction velocity along the sural and median nerves are related to the structural changes found at the biopsy and to the immunologic results. Quantitative analysis of the sural nerve showed a loss of large myelinated fibers in all 8 patients, in whom the nerve could be examined. The sural action potential as well as conduction velocity were undetectable in 4 cases, diminished in 5 and normal in 1. The primary mechanism underlying nerve damage in these neuropathies is discussed. It is suggested that the IgM paraprotein may act heterogeneously on the peripheral nerve's component.

Action Potentials↗
PubMed1986

[Role of computerized tomography in the TNM staging of laryngeal and hypopharyngeal neoplasms].

70 patients with squamous cell carcinoma of larynx and hypopharynx were examined by computed tomography; the TNM staging of tumors by CT, by endoscopy and by surgical operation was reviewed. CT proved to be reliable both to recognize the presence of neoplasms, with the exception of those very superficial, and their deep spreading to pre-epiglottic and para-laryngeal spaces, to the soft tissues of the neck and to the cartilages. Therefore CT is the examination of choice in laryngeal neoplasms staging, because it precisely completes the clinical and endoscopical informations.

Humans↗
PubMed1984

Sarcoidosis of the peripheral nerve: clinical, electrophysiological and histological study of two cases.

Two cases of sarcoid polyneuropathy were diagnosed by histological examination of the nerve biopsy. The electrophysiological findings in both patients suggested a neuropathy of axonal type, confirmed by a morphological study of a sural nerve biopsy by light microscopy and on teased-fiber preparations. The sarcoid granulomas were multiple, especially in case 2; they were sparse in the epineurial and perineurial spaces and absent in the endoneurium, whose interstitial component contained cellular infiltrations of scattered macrophages. Blood vessel changes were a constant morphological feature. The mechanisms that possibly contribute to the pathogenesis of the sarcoid neuropathy are discussed in relation to previous reports.

Aged↗
PubMed1983

Polyneuropathy in nonmalignant IgM plasma cell dyscrasia: a morphological study.

Six patients had peripheral neuropathy and nonmalignant IgM plasma cell dyscrasia. In two of them, immunological studies indicated that the monoclonal immunoglobulin reacted with myelin-associated glycoprotein, a constituent of peripheral nerve myelin. Sural nerve biopsy specimens from both patients showed morphological signs of primary damage to the myelin sheath. In the other four patients, two of whom had a monoclonal IgMK reactive with chondroitin sulfate C, the axon rather than the myelin sheath was considered the chief site of nerve injury. The morphological findings suggest that the pathogenesis of peripheral neuropathies in IgM plasma cell dyscrasia is heterogeneous. Moreover, the observations are consistent with a pathogenic interaction of the IgM paraprotein with autoantigens in peripheral nerve in some instances.

Aged↗
PubMed1983

Monoclonal IgM kappa antibody precipitating with chondroitin sulfate C from patients with axonal polyneuropathy and epidermolysis.

We studied two patients with an axonal type of polyneuropathy, epidermolysis, and IgM kappa plasma cell dyscrasia. The IgM kappa was deposited in the dermis, was absorbed from the serum by axonal micelle preparations, and was precipitated with chondroitin sulfate in highly purified agarose in 0.15 M NaCl with 0.01 M phosphate buffer, pH 7.8. In contrast, we found none of these abnormalities in three patients with IgM plasma cell dyscrasia and demyelinating neuropathy. Of 78 other macroglobulinemic serum samples from patients without neuropathy, 7 precipitated with a sulfated polysaccharide. This reaction occurred at low ionic strength, 0.05 M barbital buffer, pH 8.1, but did not occur in the higher ionic strength of 0.01 M phosphate with 0.15 M NaCl (PBS). The interaction of the IgM with chondroitin sulfate at relatively high ionic strength could cause both the axonal polyneuropathy and the epidermolysis.

Absorption↗
PubMed1982

Peripheral neuropathy in multiple system atrophy with autonomic failure.

Two patients with multiple system atrophy, autonomic failure, and peripheral neuropathy are reported. EMG conduction study in both muscle and sural nerve histology in one patient documented the involvement of the neuromuscular system. Morphologic study of the biopsied nerve showed marked reduction of large myelinated fibers, whereas the unmyelinated axons were totally spared. The latter finding provides evidence that the syspathetic nervous system contributes few, if any, axons to the total population of unmyelinated fibers in the human sural nerve. Peripheral nerve damage may be common in the Shy-Drager syndrome.

Atrophy↗
PubMed1981

Symmetric sarcoid polyneuropathy: analysis of a sural nerve biopsy.

A 20-year-old woman with sarcoidosis had uveitis, subacute symmetric sensorimotor neuropathy, and noncaseous granulomas in biopsies of gastrocnemius muscle and sural nerve. Morphologic studies of the nerve confirmed the electrodiagnostic impression of an acute axonal and demyelinating neuropathy. Of 100 teased myelinated nerve fibers, 15% contained myelin ovoids and 24% demonstrated segmental demyelination. Quantitative analysis showed a reduction in the numerical density of myelinated fibers. By electronmicroscopy, unmyelinated fibers were largely spared. The exact mechanism of nerve fiber damage was not determined, but a local effect of the granuloma seemed likely, because most lesions were found in the endoneurium.

Adult↗