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781 documents, page 1 of 79

Medullary Cystic Disease and Juvenile Nephronophthisis in Separate Members of the Same Family

Sworn, M. J.; Eisinger, A. J. (1972)
The clinical and pathological findings in three sibs dying in renal failure at 9, 15, and 21 years of age respectively are presented. The three sibs showed a similar clinical presentation with an insidious onset of azotaemia without hypertension in association with obligatory dilute urine virtually free of albumin and formed elements. There was renal osteodystrophy in all cases with tertiary hyperparathyroidism in one case.

Immunogenetics

Galaktionov, V. G. (1972)

Clinical and Laboratory Study of Children Exposed in utero to Maternal Rubella

Peckham, Catherine S. (1972)
Clinical and serological findings are described in 218 children aged 1 to 4 years who were exposed in utero to maternal rubella infection, and who were apparently normal at birth. 84 children were reassessed at 6 to 8 years of age. At the first examination, 23% of children had rubella-like defects, the most common of which was deafness associated in some cases with retinopathy. There was a close correlation between the incidence of rubella defects and both the time of exposure to maternal rub...

Las relaciones entre sociología y filosofía: algunas sugerencias concretas

Sklair, L. (Leslie) (1972)
Aproximación de la sociología y la filosofía al estudio de los cambios sociales, de la ética y de la ciencia. Contribuciones y tareas.

Neuronal Ceroid Lipofuscinosis (Batten's Disease)

Gordon, N. S.; Marsden, H. B.; Noronha, M. J. (1972)
Four patients are described, who on clinical, histological, and biochemical criteria are considered to be suffering from neuronal ceroid lipofuscinosis. It is suggested that this may be the commonest condition included under the term amaurotic family idiocy. A number of gangliosidoses can be classified on a biochemical basis and considerable advances have been made in identifying the enzyme deficiencies. The aetiology of neuronal ceroid lipofuscinosis is unknown, and it is possible that there...