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Biomedical subjects

R Mande

Publications and source records attributed to R Mande.

At least 19 recordsLinked to original sources

[A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study].

The term nephrosialidosis is proposed to describe a type of oligosaccharidosis in which a glomerular nephropathy develops early and causes death in the early years of life. The clinical and radiological features of the disease are dysmorphic facies, visceral storage disease, early and severe mental retardation and skeletal abnormalities of a type often described in this group of diseases. Foam cells were present in the marrow and, late in the illness, a cherry red spot was present on fundoscopy. The condition is inherited as an autosomal recessive. The leucocytes were deficient in alpha-(2-6) neuraminidase, an abnormality that has also been described in mucolipidosis type I and in other conditions quite distinct from nephrosialidosis. Thus the conditions characterised by this enzyme deficiency are definitely heterogeneous.

Eye Manifestations

Acceptability of BCG vaccination.

The acceptability of BCG vaccination varies a great deal according to the country and to the period when the vaccine is given. The incidence of complications has not always a direct influence on this acceptability, which depends, for a very large part, on the risk of tuberculosis in a given country at a given time.

BCG Vaccine