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M Maia

Publications and source records attributed to M Maia.

29 records · Page 2Linked to original sources
PubMed1988

Giant axonal disease: report of three cases and review of the literature.

We describe three cases of Giant Axonal Neuropathy (GAN) with clinical signs of central nervous system involvement and an abnormal CT in one case. Two of these cases are sibs, pointing to an autosomal recessive inheritance as two other families previously reported. The review of the literature shows that most cases have central nervous system and cranial nerves involvement suggesting a generalized disorder in keeping an inborn error of organization of intermediate filaments. According to this, we think that Giant Axonal Disease (GAD) is a better designation to this condition.

Adolescent↗
PubMed1988

Plasmids of Azotobacter vinelandii.

Four laboratory strains and two isolates of Azotobacter vinelandii were found to contain plasmids. Twenty-five laboratory strains which could fix nitrogen did not have free, covalently closed circular plasmid DNA. The plasmids varied in size from 9 to 52 megadaltons, and each strain yielded only one plasmid. No discernible differences in ability to fix nitrogen were found between plasmid-bearing and cured cultures.

Azotobacter↗
PubMed1977

[Multiple eccrine spiradenomas. Apropos of 2 cases in 2 sisters].

Two cases of multiple eccrine spiradenoma were studied, representing respectively up to the present time the 7th and 8th registered cases in the world literature. These cases two are siblings, a fact that had never been observed before. The histogenesis of the tumour has been the subject of controversy. The presence of multiple lesions in each patient and the incidence in siblings are two important points in favour of the naevic character of eccrine spiradenoma. Among other therapeutic measures we wish to draw attention to the excellent result we obtained with small doses of radiotherapy (1,500 rads divided in ten applications). It should be kept in mind that remission of the disease may only be temporary.

Adenoma↗
PubMed1974

Strümpell's familial spastic paraplegia: genetics and neuropathology.

Uncomplicated Strümpell's disease (Strümpell's familial spastic paraplegia) with a dominant mode of inheritance is recorded in six families. The neuropathological findings in two cases from these families are given, bringing the total of similar histologically documented reports in the literature to 11. It is concluded that, although exact classification and identification of the many different hereditary neurological degenerative diseases is not yet practicable, cases conforming to the picture described by Strümpell can be separated from larger general group of familial spastic paraplegias, show a consistent clinical picture, and have a standard pathology. It is suggested that, since the lesions are confined to the longest fibre tracts in the central nervous system, the pathological process may be different from that found in the `system' degenerations.

Adolescent↗
PubMed1974

Sjögren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia.

Two sibs are described with Sjögren-Larsson syndrome. Another sib died in early life with signs which appear to be indicative of the same condition. In the two cases studied we have documented signs of peripheral nerve involvement (not previously reported in the literature) which point towards a pathological process acting on ectodermal structures to a greater extent than has previously been considered.

Adolescent↗
PubMed1972

Syndrome of rapid irregular movements of eyes and limbs in childhood.

Electroencephalographic (E.E.G.), polyelectromyographic (poly-E.M.G.), and electro-oculographic (E.O.G.) studies were made of 16 young children and babies referred because of prolonged episodes of rapid irregular movements of eyes and limbs (R.I.M.E.L.) sometimes involving also the trunk and head. This unusual syndrome of unknown aetiology developed over a period of a few days and persisted for months or years. In the E.E.G. there were only minor changes, without discharges of any kind during the episodes of involuntary movements, and during sleep the spindles were unusually fast. In the poly-E.M.G. single or multiple spikes appeared as electrical concomitants of brief myoclonic phenomena at irregular intervals and independently in the various groups of muscles examined. In the E.O.G. the frequent episodes of irregular jerky movements of the eyeballs occurred at various intervals and without rhythmicity. On clinical observation alone this syndrome may not be easily separated from other conditions such as myoclonic epilepsy, gross ataxia, tremors, or choreiform syndromes in young children; the peculiar combination of neurophysiological findings is essential in the identification of this unusual disorder.

Child↗
PubMedDate not supplied

DNA quantification and ploidy patterns in human adrenocortical neoplasms.

The determination of DNA ploidy and the study of the cell cycle in adrenocortical tumoral cells could help in the distinction between benign and malignant lesions and also in the prediction of the biological behaviour of these tumors. We analysed 32 cases of adrenal tissue (8 normal adrenals--N, 12 benign adenomas--A and 12 carcinomas--C). DNA was quantified by image analysis of Feulgen stained sections (Ahrens System) employing ACAS3 software. The DNA content was considered to be diploid in 70% of the N and in 67% of the A groups and in none of C. In this latter group nearly 90% were triploid or tetraploid while this did not occur in any of the A cases. The percentage of cases with a 5c-exceeding rate (5cER) above 5% was nil in the N and A groups and 100% in C. In what concerns the distribution in the cell cycle we found a very distinctive pattern between the groups as the percentage of cases in which the S-phase fraction exceeded 33% was nil in the normals, 8% in A and 83% in the C cases. In conclusion, there was a good correlation between the analysed parameters and the clinically defined groups of adrenal cortex tumors.

Adenoma↗