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R T Paasuke

Publications and source records attributed to R T Paasuke.

11 recordsLinked to original sources
PubMed1987

Central core disease. Clinical features in 13 patients.

Findings in 13 patients with central core disease are reported and compared with 62 patients from the literature. Patients with central core disease show wide variation in the clinical spectrum of muscle involvement. Some will have no symptoms and be completely normal on examination, many will show mild to moderate weakness, and a small number will be severely affected. Muscle atrophy is a frequent finding, but progression of muscle weakness is rare and occurs only slowly. Musculoskeletal deformities, including kyphoscoliosis, congenital hip dislocation, feet deformities, and joint contractures, are often seen but generally do not alter the natural history of the disease. Surgical treatment may be required for some of these abnormalities. No relationship appears to exist between the degree of muscle weakness and the presence or type of musculoskeletal deformities. Cardiac abnormalities have rarely been reported in association with central core disease. Mitral valve prolapse was noted in 3 of our patients and 2 others had cardiac arrhythmias. Central core disease and susceptibility to malignant hyperthermia was present in all 11 patients we studied (2 patients with central core disease did not have studies for malignant hyperthermia). These 11 patients came from 4 families. All patients with central core disease should be considered at risk for malignant hyperthermia unless in-vitro contracture tests show that the particular patient is free of the trait.

Adolescent↗
PubMed1986

Serum creatine kinase level as a screening test for susceptibility to malignant hyperthermia.

One hundred thirty-one patients who were referred for muscle biopsy for in vitro contracture testing (IVCT) for susceptibility to malignant hyperthermia (MH) were studied. Serum creatine kinase (CK) levels were determined routinely before biopsy by the hospital clinical laboratories. Thirty-four had abnormal IVCTs (indicating susceptibility to MH) and 87 patients had normal IVCTs; all these 121 patients had normal CK levels. Ten additional patients had other muscle disorders (central core disease, hyperkalemic periodic paralysis, and Duchenne's muscular dystrophy) and abnormal IVCTs; six of the ten had elevated CK levels. We conclude that the serum CK level, as determined routinely, does not identify MH-susceptible individuals, but may indicate the presence of muscle disease. Therefore, the use of serum CK level as a screening or diagnostic test for susceptibility to MH should be abandoned.

Biopsy↗
PubMed1986

Electrophoresis of muscle proteins is not a method for diagnosis of malignant hyperthermia susceptibility.

The authors used denaturing polyacrylamide slab gel electrophoresis, employing 7.5-20% and 15-20% polyacrylamide gradients, to compare total skeletal muscle proteins of 12 normal and 19 malignant hyperthermia (MH)-susceptible individuals. The patients' MH status was determined by contracture testing. No consistent qualitative or quantitative differences could be detected. Because MH is believed to be triggered by a loss of control of sarcoplasmic [Ca2+], the authors compared: 1) the Ca2+-binding proteins of eight normal and ten MH muscles using Ca2+-dependent electrophoretic mobility shifts and a transblot/45CaCl2 overlay technique; and 2) the total protein composition of a heavy sarcoplasmic reticulum fraction isolated from five normal and nine MH muscles. Again, no differences were detected. Finally, a similar electrophoretic study was conducted to compare the total protein composition of five normal and six MH-susceptible, central core disease-affected human muscles. No significant differences could be observed. It appears, therefore, that simple electrophoretic techniques cannot be applied in the diagnosis of MH susceptibility.

Caffeine↗