Search PubMed⌕ Search

Biomedical subjects

F Gemignani

Publications and source records attributed to F Gemignani.

At least 19 recordsLinked to original sources
PubMed1992

Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature.

Peroneal muscular atrophy (PMA) associated with hereditary spastic paraparesis (HSP) is a nosologically ill-defined disease, which has been classified by Dyck as hereditary motor and sensory neuropathy type V (HMSN V). Nerve biopsy has been rarely reported in this condition. We examined sural nerve biopsies in four patients, demonstrating the following: severe myelinated fiber loss especially of large fibers, with moderate (one case) or prominent (one case) onion bulb formation; selective decrease of large fibers with moderate Schwann cell hyperplasia (one case); normal myelinated fiber population with minimal changes (one case). After reviewing previously reported cases we, conclude that in PMA with HSP sural nerve biopsy may show features either of hypertrophic type of PMA, of neuronal type, or of spinal type; thus, it seems inappropriate to allocate PMA with HSP in a unique subtype of HMSN. In addition, HSP may be not associated with peripheral neuropathy, and thus the classification in the HMSN group may be incongruous. A proper classification of PMA with HSP may be in the "complicated" forms of HSP according to Harding [Lancet I: 1151-1155 (1983)]; however, the nosology of this condition needs to be further elucidated, possibly on the basis of the underlying molecular genetic mechanisms of HSP and PMA.

Adult↗
PubMed1992

Peripheral neuropathy in essential mixed cryoglobulinaemia.

The prevalence of various forms of peripheral neuropathy has not been previously assessed in large series of patients with essential mixed cryoglobulinaemia (EMC). Clinical and electrophysiological signs of peripheral neuropathy were observed in 21 of 37 EMC patients, consisting of polyneuropathy in 19, mononeuropathy or multiple mononeuropathy in eight, and both in six. The various forms of peripheral neuropathy occurred differently in the subgroups of EMC. Isolated polyneuropathy was more common with type II (eight of 10) than type III EMC (two of eight). Multifocal neuropathy, in association with polyneuropathy, was the most common form in type III EMC (five of eight). Patients with peripheral neuropathy and type II EMC were significantly older than type II EMC patients without neuropathy, regarding present age and age of onset of EMC. Patients with peripheral neuropathy and type III EMC tended to have higher values of ESR and IgM than type III EMC patients without neuropathy. Electrophysiological findings and sural nerve biopsy specimens (nine cases) showed prominent axonal changes. Vascular changes included vasculitis and alterations of the endoneurial microvessels in type II and type III EMC. Our findings suggest that distinct pathogenic factors are implicated in the subgroups of cryoglobulinaemic neuropathy, possibly inducing different types of vascular changes underlying polyneuropathy or, respectively, mononeuropathy and multiple mononeuropathy.

Adult↗
PubMed1992

Acute sensory and autonomic neuropathy: possible association with coxsackie B virus infection.

This report describes a 26 year old woman with a Coxsackie B virus infection complicated by an acute pandysautonomic and sensory neuropathy. Electrophysiological studies suggested an axonal neuropathy. A sural nerve biopsy performed early in the disease showed axonal degeneration with a virtual absence of unmyelinated fibres and moderate loss of myelinated fibres, mainly affecting the small fibres; this differs from previous reports. An immune-mediated or direct virus action might explain the pathogenesis of this unusual evolution of a viral infection.

Adult↗
PubMed1991

Peripheral neuropathy associated with hypereosinophilia.

Three patients with hypereosinophilia showed different forms of peripheral neuropathy: severe polyneuropathy of prevalently sensory type (case 1), mild sensory neuropathy (case 2), acute mononeuropathy of the median nerve with subclinical polyneuropathy (case 3). Hypereosinophilia was probably idiopathic, however the presence of atypical findings suggested transition to vasculitides or collagen disease. Sural nerve biopsy in cases 1 and 2 showed features of axonopathy in both, although of different severity, reflecting the variability of clinical involvement and, probably, heterogeneous pathogenic mechanisms. Peripheral nerve involvement associated with hypereosinophilia may be related to neurotoxicity of eosinophils, or to vascular damage.

Aged↗
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↗
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↗
PubMed1979

Fabry's disease with familial lymphedema of the lower limbs. Case report and family study.

The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.

Cerebroside-Sulfatase↗
PubMed1979

[Poligraphy during awakeness and sleep in patients with epilepsia partialis continua].

Report is made of two patients with Epilepsia Partialis Continua (E.P.C.) from brain organic damage (since carcinoma metastasis and localized ischemia). Clinical EEG, neuroradiological and anatomo-pathological and therapeutical problems are dealth with the light of a review on previous papers. The EEG by itself is assumed as a not sufficient neurophysiological mean. Long time poligraphic enregistrations during awakeness and sleep havae, on the contrary, produced interesting data. The continuous and localized more or less rhythmic myoclonus, which are the distinctive feature in the E.P.C., were in both the patients confined to the first two fingers of their hands; the more they decreased the deeper was sleep (phase II and III-IV) and almost disappeared in the REM phase. Thus poligraphic enregistrations for E.P.C. patients are maintained as very significant.

Adenocarcinoma↗
PubMed1977

[Petit mal status].

The historical evolution of P.M.S. nosography is pointed out, and his clinical features are exposed, mainly on the ground of the study performed by Lob and Coll., for the Tenth Marseilled Colloquium. Stress is laid upon the onset age of P.M.S., making reference to a review of 133 cases previously reported in the literature. Two paradigmatic cases are reported, selected between six P.M.S. observations we collected, and electroclinically investigated, from 1972 to 1975: a woman aged 34 who was suffering from P.M. and G.M. seizures since she was 12-years old, and also had some other P.M.S. episodes during past years; a woman aged 45 who suffered from a sudden P.M.S. attack, during a febrile illness: it seemed that it was the first occurrence, but an accurate catamnestic search suggested that previous P.M.S. manifestations had probably occurred during the infancy. Finally P.M.S. nosography is discussed for what concerns the variable features emphasized by our observations, the correlation between P.M. and P.M.S., and the problem of P.M.S. as the sole epileptic phenomenon.

Adult↗
PubMed1977

[Use of EEG response following intravenous diazepam administration in the etiologic diagnosis of brain lesions].

The authors take into consideration the reactivity of the E.E. Graphic focal anomalies to the i.v. infusion of 10 mg Diazepam. The cases includ 28 patients (15 with cerebral neoplasia, 8 with severe vascular accident, 5 with light vascular accident); among these, 19 showed typical E.E. Graphic focuses after administration of Diapezam, like those previously described by Weber and other Authors. Subjects with severe cerebral lesions and in the third age, after i.v. administration of 10 mg Diazepam showed vegetative disorders (hypotension, tachycardia or bradycardia, apnoea, periodic respiration). The reliability of the reactivity of the EEG focal anomalies to i.v. administration of Diazepam is confuted and the risks of such a methodology in subjects with severe cerebral damage or in the third age, are pointed out.

Adult↗
PubMedDate not supplied

[The problem of spinal myoclonus (author's transl)].

A case of the so called "spinal myoclonus" in a 71 year-old-man affected by lung carcinoma is reported. Clinical manifestations and comparison with similar previously described in literature induce to believe in the existence of a myoclonic syndrome, whose pattern seems to give support to the attribute of "spinal", at least as conventional term. An involvement of intercalated neurons is advanced as pathogenic ground. Anyhow, possible suprasegmental implications are also considered.

Aged↗