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Biomedical subjects

E Fernandez Alvarez

Publications and source records attributed to E Fernandez Alvarez.

10 recordsLinked to original sources

[Primary versus secondary stereotypic movements].

Stereotypic movements are repetitive patterns of movements whose physiopathology and relations to other neurobehavioural disorders are still only poorly understood. In this paper our aim is to distinguish between primary stereotypic movements, which are the sole manifestation of an anomaly, while the complementary examinations, except for those involving molecular genetics, are normal; associated stereotypic movements, when they meet primary disorder criteria but there are other coexisting independent neurological signs, that is to say, they are neither the cause nor the consequence of the movement disorder; and secondary stereotypic movements, when they are the consequence of a lesion or acquired neurological dysfunction. Examples of primary stereotypic movements include episodes of parasomnia, such as head rocking, in subjects who are otherwise normal, and stereotypic movements due to emotional disorders, severe environmental deprivation or in institutionalised infants. Examples of associated stereotypic movements are those observed in Rett syndrome, in subjects with sensory defects or with mental retardation due to a variety of causes. And as instances of secondary stereotypic movements we have those that can be seen in infinite like syndrome caused by congenital cerebellar lesions. The purpose of the classification is to lay the foundations for the identification of new syndromes, which would without a doubt facilitate research into their physiopathology, their aetiology and the possible therapeutic attitude to be adopted.

Humans↗

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement. The plasma phenylalanine levels were normal. Treatment with L-dopa/carbidopa, started at age 1 year, was associated with sustained recovery from all neurologic signs. The patients were homozygous for a new recessive mutation in the GHI gene.

Adolescent↗

A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.

We have reported three cases of hyperornithinaemia associated with hyperammonaemia and homocitrullinuria (HHH). They deal with two brothers and a sister from a family where the parents and four other children are healthy on clinical and biochemical examination. The biochemical findings in our patients indicate the existence of a defect in the transport of ornithine into the mitochondria. Cultured skin fibroblasts from two of these patients incorporated six times less [14C]ornithine into protein as compared to control cells. The most characteristic sign of the clinical picture is the progressive spastic paraparesis found in one of the cases. Ornithine supplementation and restricted protein intake may be useful in the treatment of this syndrome since after three years of treatment the clinical response was favourable and the patients showed no adverse clinical effects.

Adolescent↗

CT scan appearance in subacute necrotising encephalomyelopathy.

Three patients with subacute necrotising encephalolmyelopathy are reported, all of whose CT brain-scans showed areas of low attenuation in the basal ganglia, especially in the lenticular nucleus. The authors suggest that this brain-scan appearance may help in the diagnosis of this disorder during life.

Basal Ganglia↗

Acetylenic and allenic derivatives of 2-(1-methylindolyl) methylamine as selective inhibitors of the monoamine oxidases A and B.

This paper reports the synthesis of a new series of acetylenic and allenic derivatives of 2-(1-methylindolyl) methylamine as well as the preliminary results of their study as selective inhibitors of the A and B forms of the mitochondrial monoamine oxidase from bovine brain. The compounds were obtained from 2-(1-methylindole)carboxylic acid which, as its acyl halide, reacts with amines to give the respective amides. The latter compounds were reduced with lithium aluminium hydride to the respective amines (II a-c) and then N-alkylated by reaction with 2-propynyl-, 2-butynyl- or 2,3-butadienyl bromides to the corresponding amines (III a-j).

Alkenes↗