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Biomedical subjects

A Federico

Publications and source records attributed to A Federico.

At least 235 records · Page 13Linked to original sources
PubMed1980

Behçet's disease: an unusual case with bilateral obliterating retinal panarteritis and ischemic optic atrophy.

Report of an unusual case of Behçet's disease with bilateral obliterating retinal panarteritis and ischemic optic atrophy. The rarity of the primary optic nerve involvement and chiefly the exceptional full acute bilateral occlusion of the retinal arteries are emphasized. This ophthalmoscopic picture is further clinical evidence for the major importance of the vascular involvement in the pathogenesis of Behçet's disease.

Adolescent↗
PubMed1979

Urinary glycosaminoglycans in patients with progressive myoclonus epilepsy.

Urinary GAGs analysis in Progressive Myoclonus Epilepsy (PME) showed an accumulation of uronic acid in the fraction eluted by 1 M NaCl and 3 M NaCl. As analogous changes were found in other myoclonic and epileptic patients receiving large doses of anticonvulsant drugs, these alterations in the GAG urinary pattern were not considered a primary disturbance of PME.

Adolescent↗
PubMed1977

Glycosaminoglycans and glycoproteins in metachromatic leucodystrophy.

A study is reported of the brain glycoproteins and the glycosaminoglycans in a case of infantile metachromatic leucodystrophy, associated with a ponto-cerebellar systemic atrophy, verified by autopsy. The glycosaminoglycan concentrations in the grey matter were within the normal range, while in the white matter they were slightly increased. The glycopeptides from the soluble and insoluble glycoproteins of white matter were altered not only in their quantity but also in their composition. In the grey matter a decrease of all sugars except the NaNa was detected in the insoluble fraction while in the soluble no change was detected, except for a threefold increase of fucose. The relationship was discussed of soluble to insoluble glycoproteins, and a mechanism for their derangement in MLD was suggested.

Adult↗
PubMed1975

[Oculopharyngeal myopathy. Histochemical observation of the muscles and concentration of immunoglobulins in the serum of an Italian family].

We reported the first Italian family with oculopharyngeal myopathy. Five of six brothers, aged 60 to 76, showed to a different degree ptosis of the eyelids, ophtalmoparesis, hypomimic face, troubles in chewing, swallowing and speaking, some wiggling gait, and a widespread, mainly proximal, muscular hypotrophy and weakness. Characteristic of this disease are its hereditary transmission of dominant autosomic type, its late appearance also after 50 years of age and its slow progression without periods of improvement. Electromyography, histologic and histochemical study of extra-ocular muscles were performed in two patients and showed clear changes of myopathic type. Besides, we found in 3 patients increased serum immunoglobulins, chiefly IgG, as first Russe, Busey and Barbeau demonstrated in a large French-Canadian family.

Adult↗
PubMedDate not supplied

Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.

Here we report a new case in which the clinical manifestation were compatible with the phenotype described by Lujan et al. [Am J Med Genet 1984; 17: 311-22] as 'X-linked mental retardation with marfanoid habitus'. Based upon the presence of mild psychomotor retardation, epilepsy and skeletal malformations, a sister can be considered an affected carrier, whereas an older brother showed skeletal abnormalities and juvenile glaucoma. The mother had bilateral palpebral ptosis with minimal mitochondrial abnormalities at muscle biopsy.

Adolescent↗