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Biomedical subjects

P Mozziconacci

Publications and source records attributed to P Mozziconacci.

At least 55 records · Page 3Linked to original sources
PubMed1975

Hereditary ornithine transcarbamylase deficiency. Report of two male cases with residual enzymatic activity.

The authors report two male cases of liver ornithine carbamyl transferase deficiency. In one the disease occurred at 8 years of age with hyperammoniemic coma leading to death in 48 hours. In the second case, symptoms appeared on the sixth day of life but the outcome was favorable. The child is normal at 15 months. In both cases, there was a residual 6-10% OCT activity. These observations are similar to two other male cases in the literature and are different from the male neonatal fatal form in which the deficiency is virtually total. They underline the genetically heterogeneous nature of OCT deficiencies and the fact that in this X-transmitted trait, hemizygotes can preserve a functional enzymatic activity compatible with life.

Amino Acids↗
PubMed1975

[Ultrastructure of the blood platelets in Wiskott-Aldrich syndrome].

The platelets of 3 undoubted cases of Wiskott-Aldrich syndrome and of 1 suspected case have been investigated from the ultrastructural point of view. The platelet defects were striking by their small size, variable and distorted shape with numerous microvillosities, degranulated cytoplasm (scarce granules or lysosomes, rare mitochondria) and the distension of the canalicular system. The specificity of the ultrastructural platelet defects was discussed in comparison with other hereditary platelet diseases. An attempt was made to find out the meaning of the platelet alterations in this immunologic deficiency.

Blood Platelets↗
PubMed1974

[Inflammatory rheumatism in immunologic deficiencies].

The authors give a general review of rheumatic manifestations associated with immunodeficiency in children with reference to 7 personal observations. The review demonstrates the high frequency of this association, the variable clinical picture in one, a few, or many joints, the prolonged, relatively mild evolution that is never deforming or ankylosing, the existence of frequent auto-immune and rheumatic manifestations in families, and the usual but variable effectiveness of gammaglobulins. The possibility of immunodeficiency should be considered in cases of mono-, oligo-, and polyarthritis. The results of humoral and cellular immunological studies demonstrated a low level of immunoglobulins, the presence of nonfunctional B cells, and the presence of T cells that were probably qualitatively modified. A physiopathological interpretation is suggested.

Adolescent↗