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Biomedical subjects

R Perelman

Publications and source records attributed to R Perelman.

13 recordsLinked to original sources
PubMed1992

[Acute heart insufficiency in an 8-month-old infant presenting with hypocalcemia and Epstein-Barr virus infection: acute myocarditis? Or primary hypokinetic dilated cardiomyopathy?].

An eight-month-old was admitted for acute congestive heart failure with fever. The respective parts played by hypocalcemia (due to vitamin-D deficiency rickets) and acute Epstein-Barr virus infection are discussed. Hypocalcemia was sufficiently marked to induce heart failure per se but replenishment of calcium stores was followed by only partial improvement in cardiac manifestations. Initial management was difficult because of the risks associated with concomitant administration of calcium and digitalis. After eighteen months during which the patient's status remained stable, evaluation showed that clinical features were consistent with sequelae of acute viral myocarditis. The possibility of primary hypokinetic dilated cardiomyopathy was then considered. Esterified carnitine levels were found to be increased leading to further investigations which outruled mitochondrial cytopathy.

Acute Disease↗
PubMed1989

[Mitral valve prolapse and Willebrand disease. Study of 16 cases of Willebrand disease].

We studied mitral valve morphology and kinetics in 16 children aged 3 to 15 years with documented von Willebrand disease. Mitral valve prolapse was demonstrated in four cases (25%); this result is consistent with findings of similar studies in adults. This non-random association between mitral valve prolapse and von Willebrand disease, as well as embryologic evidence and reports of other conditions found in patients with von Willebrand disease, suggest that mesenchymal dysplasia is the underlying anomaly. Patients with von Willebrand disease and mitral valve prolapse may be at increased risk for cerebrovascular events.

Adolescent↗
PubMed1975

The ultrastructure of hepatocytes in alpha-1-antitrypsin deficiency with the genotype Pi--.

The ultrastructural appearance of the endoplasmic reticulum of the hepatocytes was found to be normal in a 5-year-old girl with alpha-1-antitrypsin deficiency with the genotype Pi--. The liver ultrastructure of this variant is therefore different from that of alpha-1-antitrypsin deficiency with the genotype PiZZ in which aggregates of an abnormal, unsecreted alpha-1-antitrypsin accumulate in the endoplasmic reticulum of the hepatocytes. The normal appearance of the endoplasmic reticulum in alpha-1-antitrypsin deficiency with the genotype Pi-- is compatible with the hypothesis, in this variant, synthesis of alpha-1-antitrypsin is completely, or nearly completely, absent; an alternative hypothesis would be that an abnormal alpha-1-antitrypsin is produced by the liver and secreted into the plasma, but disappears rapidly from the plasma.

Carbohydrate Metabolism, Inborn Errors↗
PubMedDate not supplied

[About 2 cases of "dry syndrome" associating xerophthalmy, xerostomy and cutaneous dryness. A new entity or an unrecognized diagnostic? (author's transl)].

Two cases, in children of distinct families, of a particular form of "dry syndrome", are described. This syndrom, which associates xerophthalmy, xerostomy and cutaneous dryness, is congenital and familial. He looks different from previously described diseases or syndroms which include one or several of these three components.

Child↗
PubMedDate not supplied

[A case of pulmonary hemosiderosis associated with rhumatoid arthritis with LE cells (author's transl)].

In a three and a half old girl, we have noticed the apparition: first, of on idiopathic pulmonary hemosiderosis; then, five months later, of a rheumatoid arthritis with LE cells and antinuclear antibodies of very difficult detection. The meaning of this articular involvement is discussed: rheumatoid arthritis with LE cells, or rheumatoid arthritis marking the beginning of a systemic lupud erythematosus. The literature concerning the association of an hemosiderosis and a connectivite is reviewed.

Antibodies, Antinuclear↗