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Increased Erythrocytic Osmotic Fragility in Pseudohypertrophic Muscular Dystrophy
Edwin R. Fisher, MD;
Emmanuel Silvestri;
John W. Vester, MD;
Sean Nolan, MD;
Usman Ahmad, MD;
Thaddeus S. Danowski, MD
JAMA. 1976;236(8):955.
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THE DEMONSTRATION by scanning electron microscopy1 that erythrocytes in patients with pseudohypertrophic muscular dystrophy (PHMD) have an irregular, crenated-like surface prompted us to investigate the fragility of these erythrocytes, since crenation represents an early stage in the development of osmotic fragility.2 Our studies indicate that the susceptibility of erythrocytes to hemolysis in hypotonic saline is increased in 85% of patients with PHMD.
Materials and Methods
Venous blood (0.1 ml) from 94 patients with PHMD and 19 healthy, aging, and sex-matched controls was added to hypotonic saline for the detection of osmotic fragility of erythrocytes. The concentrations of saline are indicated in the Table. The percent of hemolysis of erythrocytes was determined by spectrophotometry.
The diagnosis of PHMD was based in each instance on muscle weakness on recording ergometry, increased calf size, and increased serum creatine phosphokinase levels. In addition, electromyography (41 patients), motor nerve conduction velocity (40 patients),
. . . [Full Text PDF of this Article]
Author Affiliations
From the departments of pathology (Dr Fisher and Mr Silvestri) and medicine (Drs Vester, Nolan, Ahmad, and Danowski), Shadyside Hospital, Pittsburgh.
Footnotes
Reprint requests to Director of Laboratories, Shadyside Hospital, 5230 Centre Ave, Pittsburgh, PA 15232 (Dr Fisher).
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