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Biomedical subjects
E G Murphy
Publications and source records attributed to E G Murphy.
Serum creatine kinase and pyruvate kinase in Duchenne muscular dystrophy carrier detection.
The incidence of elevated serum creatine kinase (CK) and pyruvate kinase (PK) activities was compared in 20 definite carriers of Duchenne muscular dystrophy (DMD), 47 possible carriers, and 42 female controls. When adult age was not regarded as a variable, 70% of the definite carriers had elevated PK, 55% had elevated CK, and 75% had elevated PK or elevated CK or both, 38% of the possible carriers had elevated PK, 19% had elevated CK, and 40% had elevated PK or elevated CK or both. The detection efficiency of the CK test was influenced by the age of the subjects: the upper normal limit of serum CK in the adult controls was at the minimum between 21 and 35 years of age, and CK activity in some carriers declined from elevated to normal levels with increasing age. With these considerations, 70% of definite carriers had elevated CK and 80% had elevated PK and/or CK; 34% of the possible carriers had elevated CK and 43% had elevated PK and/or CK. On the basis of the PK and CK measurements, only 16 of 24 possible carrier mothers were likely to be DMD carriers, implying that the other 8 were non-carrier mothers of new mutant sons.
Adolescent↗
Neonatal Guillain-Barré syndrome.
A term female infant had the clinical manifestations and accompanying electrophysiologic studies to fulfill the criteria of Guillain-Barré syndrome. At birth, she presented with generalized hypotonia, paucity of lower limb movements, and diminished muscle stretch reflexes. At 3 weeks of age, motor nerve conduction studies demonstrated evidence of demyelination and axonal involvement. Progressive clinical improvement was observed beginning at the age of 2 weeks with subsequent normalization of clinical examinations and nerve conduction studies. To our knowledge, this patient is the youngest reported with Guillain-Barré syndrome.
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