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Biomedical subjects

F Gemignani

Publications and source records attributed to F Gemignani.

At least 55 records · Page 3Linked to original sources
PubMed1991

Magnetic motor evoked potentials (MEPs) in masseter muscles.

Electromyographic responses of the masseter muscles and orbicularis oris muscles following transcranial magnetic stimulations were recorded with surface and needle electrodes. MEPs in masseter muscles (latency 6.9 +/- 0.71 ms, mean +/- SD) due to activation of controlateral cortico-nuclear connections were evoked by magnetic stimulations at 4 cm laterally to the vertex on the biauricular line. These MEPs were followed bilaterally by a silent period lasting about 20 ms and, less constantly, by a later silent period lasting up to 80 ms. The ipsilateral responses to the same stimuli presented shorter latencies and higher amplitudes and they were ascribed to direct stimulation of the trigeminal nerve, probably its intracisternal portion. Ipsilateral masseter "cortical" MEPs could be elicited only by a lower output setting (70% of the maximum output) of the stimulator. Orbicularis oris MEPs were polyphasic and dispersed with latencies ranging from 7 to 11 ms. In patients with hemispheric or capsular ischemic lesions "cortical" MEPs were absent when stimulating the affected hemisphere and present when stimulating the unaffected one. We suggest that the direct corticomotoneuronal projections for the masseter are mainly crossed.

Adult↗
PubMed1990

[Peripheral neuropathy with mixed cryoglobulinemia].

Among 54 patients with mixed cryoglobulinemia a peripheral neuropathy was demonstrated in 23 patients (42.6%). Five patients had a secondary form while the majority (18) had essential cryoglobulinemia. The immunoglobulin components were polyclonal in 5 cases, only present in trace amounts in 5 and of type II in 13 patients. Fifteen patients had symptoms of polyneuropathy, but in 18 cases the symptomatology had symmetrical features and in two cases asymmetrical characteristics. In 8 patients a mono-polyneuropathy was observed. The most significant electrophysiological finding was the decreased amplitude of the sensory action potential of the sural nerve, which we observed in 95% of the instances, whereas a decreased sensory conduction velocity was seen in 8/23 cases only. A biopsy of the sural nerve, performed in eleven cases, always showed abnormal epi- and endoneurial vessels. Epineurial vessel vasculitis was found in 4 cases and fibrous thickening of the vessel wall in two cases. Endothelial swelling of the endoneurial vessels was observed in 7 patients and luminal obliteration in 3 samples. Axonal degeneration demonstrated in 7 of the 11 processed sample tissues was the main pathological finding. Signs of de/remyelination were associated in 3 cases, and were the dominant lesions in a single specimen. The simultaneous biopsy of the peroneus brevis muscle showed signs of denervation in all samples, vasculitis in 7 cases and deposits of filaments plus annular bodies of the vessel wall in 2 samples. All these data support the hypothesis that ischaemic damage may be the final common pathway of the majority of peripheral neuropathies in mixed cryoglobulinemia patients.

Adult↗
PubMed1989

Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers.

A neuromuscular disorder is reported in two brothers, aged 28 and 38 years, with glycogenosis type III. Both patients had proximal weakness, pseudohypertrophy of sternocleidomastoid, trapezius and quadriceps muscles, mild distal wasting and myopathic EMG changes. Pseudohypertrophy was more evident in the younger brother, whereas weakness was prominent in the older one. In the former, muscle biopsy revealed vacuolar myopathy and virtual absence of amylo-1,6-glucosidase enzyme. Few familial cases of debrancher deficiency neuromuscular disorder have been reported. Distal wasting has been considered a quite characteristic manifestation of the disease. It is also suggested that this particular kind of pseudohypertrophy may represent a distinctive feature of glycogenosis type III.

Adult↗
PubMed1987

Polyneuropathy and systemic vasculitis. An electrophysiological study.

A review of cases of systemic vasculitis followed for one year in a rheumatology department resulted in the detection of 18 patients who on the clinical and electrophysiological evidence had symmetrical distal polyneuropathy. A moderate impairment of the motor conduction velocity was present in 7 patients, with electromyographic neurogenic changes in the distal lower limbs of all but one patient. The sensory action potential of the sural nerve was bilaterally absent in one case, and its amplitude was reduced in 14 out of 16 patients, with a decreased sensory conduction velocity in 9 cases. The sural nerve biopsy, performed in 6 patients, was prevalently suggestive of previous axonal degeneration. This investigation illustrates the spectrum of diffuse peripheral nerve involvement associated with systemic vasculitis. A variable impairment of the sensory action potential, ranging from slight decrease of amplitude to no response, is the most common finding. Conduction velocities appear to be relatively spared.

Adult↗
PubMed1986

Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis in two brothers.

Two brothers aged 75 and 61 years, born from non-consanguineous non-affected parents, had spinocerebellar ataxia and impaired proprioception in the lower limbs, associated with sensorineural deafness, amyotrophy of the hands and spastic paraparesis. The older patient also had vitiligo of the right hand, and both displayed likely dysendocrine features. The disease was present since the second-third decade and showed a slow course. An EMG confirmed a neurogenic disorder strictly localized to the distal upper limbs. This new phenotype of heredoataxia is compared with previously reported similar syndromes and, in particular, with diseases featuring localized amyotrophy of the hands.

Aged↗
PubMed1985

Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum.

A 65-year-old man with Tangier disease (analphalipoproteinemia) had had a progressive sensorimotor distal neuropathy with sensory ataxia for 1 year. Muscle biopsy demonstrated excess lipid vacuoles on histochemical and electron-microscopic techniques. Sural nerve biopsy showed a marked loss of large fibers and an increase in small myelinated fibers, with presence of remyelinating fibers and clusters of regeneration; a few aspects of active demyelination and some onion-like formations were also present. Lipid accumulation chiefly affected the Schwann cells of unmyelinated fibers and, to a lesser degree, of myelinated fibers, endoneurial fibroblast, and vasa nervorum. Teased fibers showed prevalent aspects of de-/remyelination and, often in association, marked myelin wrinkling suggesting axonal atrophy. This Tangier patient differs from known cases for the presence of a distal symmetrical sensorimotor polyneuropathy (not previously reported in Tangier disease) and because of the morphological findings of de-/remyelination coexisting with aspects of axonal atrophy and previous degeneration, and of lipid accumulation within striated muscle and vasa nervorum. This latter finding contrasts with the assumption that in Tangier disease vessel walls are not a site of lipid storage: probably the vasa nervorum are different, in this respect, from other vessels, because of the intense lipid metabolism of the nervous tissue. Thus we suggest that involvement of vasa nervorum in Tangier disease may be more important than previously suspected, possibly playing a role in the causation of neuropathy.

Aged↗
PubMed1984

Pathological study of the sural nerve in Fabry's disease.

A man with Fabry's disease, who died at 52, suffered from lancinating limb pains between the age of 20 and 27, and from severe arthralgia between 20 and 40. The sural nerve showed a severe loss of fibers (1,614 myelinated fibers/mm2), chiefly affecting the small myelinated fibers. Inclusions of both homogeneous and lamellated appearance were present in the perineurial cells, fibroblasts and vessel walls. Teased fibers displayed moderate remyelination, regeneration and the presence of globular focal myelin thickening. The transient time course of painful manifestations in this case is stressed in view of a possible pathogenesis of pain in Fabry's disease. It appears that small-fiber neuropathy is not directly related to the occurrence of pain symptoms, since the prevalent loss of small myelinated fibers was seen in the absence of actual pain. The small sensory neurons in the dorsal root ganglia, that are especially affected by lipid accumulation, probably give rise to abnormal discharges producing pain via the prevalence of the small-fiber versus the large-fiber input to the dorsal horn of the spinal cord (gate control theory). Thus pain fits may spontaneously abate, as in our case, if degeneration and loss of the small sensory neurons overstep a critical level.

Fabry Disease↗
PubMed1983

Neuronal loss in the basal nucleus of Meynert in progressive supranuclear palsy.

A morphometric study of the basal nucleus of Meynert (bnM) has been performed in a 70-year-old man with a 4-year history of pathologically confirmed progressive supranuclear palsy (PSP). An important neuronal loss (52%) was demonstrated in the bnM. This finding has not been previously documented with morphometric methods in PSP, but the involvement of the bnM is well known in other related conditions, i.e., Parkinson's disease, Alzheimer's disease, and Parkinson-dementia complex of Guam. Our findings yield support to the view that the involvement of the bnM, a nucleus with complex connections with various subcortical structures and diffuse cholinergic projections on the neocortex, could play an important role in the physiopatholog of subcortical dementia.

Aged↗
PubMed1983

Localized nodular myositis and the diagnosis of the localized muscle mass.

Localized nodular myositis (LNM) is a rare variant of polymyositis beginning with inflammatory nodules within muscles. Only seven cases have so far been reported in the literature. We describe a probable further case of LNM in a 67-year-old man with ischemic claudication of the left leg for three years who presented with painful nodules in the left gastrocnemius muscle and signs of systemic disease; a complete follow-up was not possible, because the patient died after only two months and autopsy was not performed. Muscle biopsy showed localized areas of necrotic and inflammatory pleomorphic changes, in keeping with the features of the other known cases. The ultrastructural findings (not previously reported in this disease) were characterized by marked changes of endomysial capillaries, with fibroblastic metamorphosis of the endothelial cells, and by the presence of filamentous inclusions in the myonuclei. The differential diagnosis of LNM from other localized muscle masses, chiefly from muscle infarct, is discussed.

Aged↗
PubMed1983

Immunological abnormalities in a family with progressive external ophthalmoplegia.

The authors report the muscular and humoral immunological abnormalities found in a family with progressive external ophthalmoplegia (PEO) of the "pure" form. Serum circulating immune complexes as determined by the polyethylen glycol (PEG) test and double radial immunodiffusion (DRID) were positive for IgG in both cases studied and for IgM and Clq for the propositus. In the latter circulating auto-antibodies against smooth muscle were also present. Immunohistochemical studies on striated muscle of the propositus showed positive perivascular IgG and IgM staining and IgG in the sarcolemma basement membrane complex. It is suggested that in this family a genetically inherited abnormal immune response to the muscular blood vessel wall has induced vascular injury and ultimately chronic ischemic muscular damage. This is consistent with the view that PEO is a clinical syndrome, i.e. the expression of various defects affecting primarily or secondarily the energy metabolism of the muscular tissue.

Aged↗
PubMed1982

Anderson-Fabry's disease: neuropathological and neurochemical investigation.

A clinical, neuropathological and neurochemical study of a case of Anderson-Fabry's disease is described. The clinical course mainly consisted of repeated ictus with major involvement of the CNS. The neuropathological examination is dominated by severe alterations in the cerebral vessels due to glycolipid deposits on the walls, with reduction or occlusion of the lumen. This is correlated with secondary ischaemic foci scattered throughout the cortex as well as through the white matter. In addition, the cells of the cerebral cortex, thalamus, basal ganglia, amygdala, cerebellar and olivary nuclei show a marked accumulation of lipofuscin. Biochemical examination reveals a threefold increase in galactolipids due to the specific alpha-galactosidase deficiency. Cholesterol is reduced secondarily to ischaemic myelin damage. Glycosaminoglycans uronic acid is increased in cytosol and membrane-bound fractions which could be related to reactive gliosis. Glycoprotein sugars show a decrease in N-acetyl-neuraminic acid and fucose as well as an increase in hexosamines and hexoses in membrane-bound fraction, while in cytosol fraction all sugars are increased. This suggests that the alpha-galactosidase deficiency can alter not only the glycolipid but also the glycoprotein metabolism, resulting in a higher presence of hexosamines and hexoses-rich glycoproteins.

Amygdala↗
PubMed1982

Polyneuropathy in progressive external ophthalmoplegia.

A case of progressive external ophthalmoplegia (PEO) in association with peripheral neuropathy and other neural and visceral manifestations is reported. Pathological studies of the sural nerve demonstrated loss of large myelinated fibers, segmental demyelination with remyelination, and excess of zebra bodies in the Schwann cells on electron microscopy. Peripheral neuropathy in the course of PEO is regarded as a further although rare aspect of a multisystem disease.

Biopsy↗
PubMed1981

Progressive supranuclear palsy in the course of subclavian steal syndrome.

A 70-year-old man manifested during four years a progressive clinical picture consisting in palsy of gaze, axial rigidity, disorders of standing and gait, dysarthria, dysphagia. Neuroradiological investigations demonstrated proximal thrombosis of the left subclavian artery with subclavian steal. At necropsy, degenerative changes in several areas of the basal ganglia and brain stem, with presence of globose neurofibrillary tangles, were found, consistently with the pathologic pattern of the Progressive Supranuclear Palsy (PSP). The association of PSP and subclavian steal syndrome has not been previously reported, to our knowledge. We hypothesize that chronic ischemia, due to subclavian steal syndrome, in the vertebral basilar system and its watershed versus carotid system may have favoured the appearance, in these same areas, of the changes of the PSP.

Aged↗