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Biomedical subjects

F Gemignani

Publications and source records attributed to F Gemignani.

At least 73 records · Page 4Linked to original sources
PubMed1981

[Late myopathy with mitochondrial changes in the muscle].

The ultrastructural finding of abnormal muscle mitochondria has been reported in various conditions, but mostly in association with the clinical picture of ophthalmoplegia, and in cases of "floppy infant" syndrome. In the case herein reported, the mitochondrial abnormalities were found in the muscle biopsy of a 49-year-old man suffering from a late onset proximal myopathy; he was affected also by polyneuropathy, subclinical thyroid dysfunction, disturbances of heart conduction, and unilateral gynaecomastia. The association of abnormal muscle mitochondria and late onset myopathy without involvement of the extraocular muscles has been reported in a very few cases. It is not possible, at present, to state that these cases represent a nosological entity; the existence of an underlying biochemical defect, accounting for the mitochondrial abnormalities, could be suspected, but it seems more probable that these changes are non-specific features of muscular damage, possibly related to the stage and the degree of the process. In this view, the coexistence of neurogenic damage, gastrointestinal malabsorption, and thyroid dysfunction, could play an additional role in the case herein described. Finally, the coexisting findings of cardiac, endocrine, and neuropathic damage are discussed with regard to the Kearns-Sayre syndrome, which also associates mitochondrial myopathy and multisystemic involvement.

Humans↗
PubMed1980

Transient hemiballismus and subclavian steal syndrome. Case report.

Transient hemiballismus was observed in a 74-year-old man, displaying subclavian steal syndrome. Such a correlation has not been previously reported in the literature. In this case, transient hemiballismus seemed to depend on hemodynamic factors, but other mechanisms possibly explaining early recovery of the hyperkinesias are discussed. In particular, stress is laid upon the role of preexisting pathological changes of the central nervous system (diffuse cerebral atrophy) associated to the "releasing" lesion.

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↗
PubMedDate not supplied

[Idiopathic orthostatic hypotension: Shy-Drager's syndrome (author's transl)].

The authors report a clinical case of idiopathic orthostatic hypotension with associated signs of focal cerebrovascular lesion. They discuss aetiopathologic hypotheses which have been proposed to interpret pathological situations of this type. It seems reasonable to attribute an autonomous disease classification to idiopathic orthostatic hypotension as a systemic degenerative disease concerning peripheral and central structures with vegetative functions. The Shy-Drager syndrome (idiopathic orthostatic hypotension associated with diverse signs of involvement of the central nervous system) must not, however, be considered as an independent form of disease. The associated signs are none other than the expression of commonly found cerebral ischemic lesions deriving from abrupt arterial hypotension, or from cerebral dysautoregulation; or the expression of the association of a systemic degenerative disease with another, a not infrequent occurrence well known in the pathology of the nervous system.

Cerebrovascular Disorders↗
PubMedDate not supplied

Mitochondrial paracrystalline inclusions in the peroneus brevis muscle of patients with peripheral neuropathy.

In a series of 50 consecutive biopsies of peroneus brevis muscle (PBm) taken from patients with ascertained or suspected polyneuropathy in the course of sural nerve biopsy, we found a high incidence (26%) of intramitochondrial paracrystalline inclusions (MPI). Five out of these 13 patients were also submitted to an additional biopsy of a proximal muscle, which in no case confirmed the finding of MPI. Six out of the 13 patients with MPI were affected by diseases with a presumably important ischemic component. The mean age of patients with MPI was quite elevated (60.7), and the difference in distribution of age between patients with and without MPI was statistically significant. No significant difference in histochemical changes was found between the group of MPI patients and a control group of age-matched patients without MPI, thus excluding that MPI in the PBm are specifically associated with other neurogenic or myopathic aspects. We conclude that aging and, probably, ischemia are largely responsible for the frequent presence of MPI in the PBm. In addition, factors intrinsic to the muscle itself, possibly related to morphological, physiological, or biochemical peculiarities, may also influence the development of MPI.

Aging↗
PubMedDate not supplied

Polyneuropathy in Sjögren's syndrome. A case of prevalently autonomic neuropathy with tonic pupil and hypohidrosis.

A 38-year-old woman suffering from primary Sjögren's syndrome displayed a neurologic picture consisting of left tonic pupil, generalized tendon areflexia and left-sided hypohidrosis. Electrophysiological and pathological studies suggested a mild degree of peripheral nerve involvement. Moderate loss of large myelinated fibres and obliteration of small endoneurial vessels were seen in the sural nerve biopsy. Sympathetic skin response was absent and alterations of unmyelinated nerve fibres were found. A prevalently autonomic neuropathy with tonic pupils may represent a characteristic picture in the spectrum of peripheral nerve involvement in Sjögren's syndrome. Other similar cases reported in the literature are reviewed.

Adult↗
PubMedDate not supplied

Abnormal muscle mitochondria in ischemic claudication.

The gastrocnemius and quadriceps muscles findings in 18 patients with chronic arterial insufficiency were reviewed with regard to mitochondrial changes. Prominent mitochondrial alterations were present in eight out of 18 patients. The comparison of clinical data between patients with and without mitochondrial changes revealed that in this latter group all patients were at stage IV, whereas the degree of ischemic disease was milder in the other group: the difference in distribution of patients at stage IV between the two groups was statistically significant. This supports the view that mitochondrial changes are expression of adaptive modification rather than damage.

Adult↗