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Biomedical subjects

A Marbini

Publications and source records attributed to A Marbini.

At least 55 records · Page 3Linked 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↗
PubMed1978

Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.

The unusual association of Werdnig-Hoffmann disease and nephrogenic diabetes insipidus in a 5-month-old child is described for the first time. The association is casual, considering the different pathways of genetical transmission in these two diseases. The possibility of identifying the heterozygote is discussed and it appears to be limited to nephrogenic diabetes insipidus.

Diabetes Insipidus↗
PubMed1977

[Clinical and muscle istochemical observations in secondary hypokalaemia (author's transl)].

A case of hypokalaemia due to chronic administration of Clortalydone is reported. The histochemistry of muscle biopsy showed the morphologic changes which are usually found in the muscle fibers of periodic familial paralysis (necrotic fibers, accumulation of PAS positive substance, inflammatory cells, intermyofibrillar network degeneration, increase of lipids content). Such findings suggest some clues to the pathophysiology of the essential hypokalaemic paralysis and the possible practical importance of these histopathologic muscular findings in the diagnosis of secondary hypokalaemia.

Aged↗
PubMedDate not supplied

[Diagnostic problems posed by hypotrophic facio-scapulo-humeral syndromes (author's transl)].

The Authors, on the ground of the literature and of their own observations, stress the diagnostic non specificity of hypotrophic facio-scapulo-humeral syndromes: these sindromes, contrary to the current opinion, aren't always of primitive myodistrophic nature but may also be "neurogenic", inflammatory, collagenopathis, etc. In this connection they present an illustrative case of facio-scapulo-humeral syndrome which had clinical features typically "myogenic" but turned out to be "neurogenic" after electromyographic and histochemical investigation.

Electromyography↗
PubMedDate not supplied

[Duchenne muscular dystrophy in girls (author's transl)].

The AA., after a review cases of girls suffering from a muscular dystrophy like Duchenne, present two cases that they think to set in the same nosographical context. Even though they admit its extreme rarity and the possiblility that many cases previously published are controversial, they accept that Duchenne myodistrophic syndromes certainly occur in girls, even if their substantial nature remain uncertain.

Adolescent↗
PubMedDate not supplied

[Some clinical and paraclinical observations about the syndrome of "acropathie ulcero-mutilante" (author's transl)].

A case of "acropathie ulcero-mutilante" is reported, some features of which contribute to a better knowledge of the following controversial points: a) the occurrence of sporadic non familiar cases; b) the existence of degenerative changes in the motor pathways; c) the hystochemical picture, which has been not previously described. This case confirm sporadicity and degenerative changes in motor pathways. The histochemical picture show typical signs of denervation.

Arthritis↗
PubMedDate not supplied

[Further remarks on histochemistry applied to myodiagnosis: findings of "type predominance" (author's transl)].

Data concerning muscular biopsies (histochemically examined) of three patients affected by Charcot-Marie-Tooth disease, neurogenic atrophy of spondilosic origin and benign congenital hypotonia, are described. The common finding was a histochemical appearence of "type predominance". This point and the possible "neurogenic" origin of benign congenital hypotonia, are discussed.

Adult↗
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

[Dilated cardiomyopathy due to primary carnitine deficiency].

A case of a 3 and a half years old girl with severe congestive heart failure, and typical picture of dilated cardiomyopathy is presented. The serum level of carnitine (17.2 micromoles/l, versus 44.1 +/- 12.2 micromoles/l, normal value for age) and the histologic and biochemical evaluation of quadriceps muscle tissue confirmed the diagnosis of primary deficit of carnitine. L-carnitine (2 gr. three times a day p.o.) was added to anti-congestive therapy. After 8 weeks of therapy, the general and cardiocirculatory conditions are much improved. The physiopathology of dilated cardiomyopathy due to deficit of carnitine are discussed. An early diagnosis, and an early substitutive therapy with L-carnitine dramatically improve the outcome of the disease.

Biopsy↗
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↗