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1.
EMHJ-Eastern Mediterranean Health Journal. 1999; 5 (6): 1213-1217
in English | IMEMR | ID: emr-156720

ABSTRACT

Biotinidase deficiency is an autosomal recessive genetic disorder which is not uncommon in the Saudi population. Biotinidase is responsible for biotin recycling and biotin is an essential cofactor for activation of the carboxylase enzymes. Absence of biotinidase leads to infantile or early childhood encephalopathy, seizure disorder, dermatitis, alopecia, neural deafness and optic atrophy. The disease can be diagnosed by simple fluorometric enzyme assay. Treatment with biotin is both cheap and simple, resulting in rewarding clinical recovery and normalization of the biochemical, neuroradiological and neurophysiological parameters. If neglected, however, a patient may die of acute metabolic acidosis or may suffer from permanent neural deafness and optic atrophy, with mental and motor handicap. We describe the detection and treatment of 20 cases of biotinidase deficiency in our hospital and recommend the introduction of a neonatal screening programme for this disorder


Subject(s)
Female , Humans , Infant , Male , Amidohydrolases/physiology , Biotin , Biotinidase , Cause of Death , Electroencephalography , Genes, Recessive/genetics , Infant, Newborn , Tomography, X-Ray Computed , Treatment Outcome
2.
Acta amaz ; 151985.
Article in English | LILACS-Express | LILACS, VETINDEX | ID: biblio-1454077

ABSTRACT

Twenty-eoght algal samples were collected in September-October, 1984, from two distinct habitats in the state of Acre, Brazil. Eleven were from the Moa River, and 17 were from a sulfur water spring which flows into the Moa River. A total of 74 species, representing 48 genera of algae, were identified from these samples. Forty-nine species were found in the Moa River and 67 in the sulfur water spring. Both coolection site had rich assemblages of cyanophycean algae, chlorophycean algae, and diatoms. Chlorophycean species dominated the algae flora at both sites, cut were more numerous at the sulfur water spring. There was also a definite difference in the relatives proportions of desmids to filamentous chlorophycean algae at the two sites.


Vinte e oito amostras de algas foram coletadas nos meses de setembro e outubro de 1984, provenientes de dois habitats distintos no Estado do Acre: o Rio Moa (11 amostras) e uma fonte de água sulfurosa afluente do Rio Moa (17 amostras).Ao todo foram identificadas 74 espécies, representando 48 gêneros de algas. Quarenta e nove espécies foram isoladas do Rio Moa e sessenta e sete da fonte salfurosa. Ambas as localidades de coleta revelaram ricos conjuntos de algas clorófitas, algas cianofíceas e diatomas. Especies clorófitas dominaram a flora algal de ambas as localidades, embora mais numerosas na fonte sulfurosa. Também foi observada uma diferença significante entre as duas localidades nas suas respectivas proporções de desmidiáceas: algas clorófitas filamentosas.

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