Biomedical subjects
A Chudley
Publications and source records attributed to A Chudley.
Genetic landmarks through philately: the Human Genome Project and the new millennium.
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Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives.
We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and/or autopsy. The infants were normal newborns who rapidly developed rigidity of all skeletal muscles, with early, respiratory insufficiency. Death occurred before 18 months of age. Electromyography showed increased insertion activity and profuse fibrillation potentials; motor unit potentials and interference pattern are normal until late in the course. Pathologic features include progressive, granular to powdery Z-band transformation, myofibrillar loss, and muscle regeneration. SDS-gel electrophoresis of one muscle sample revealed increased 54kDa and reduced 80kDa protein fractions. This disease differs from other conditions with Z-band alterations because of continuous muscle activity and relentless clinical progression. The clinical features, elevated serum creatine kinase, electromyographic and muscle biopsy findings suggest a dystrophic process. The recognition of this condition as an autosomal recessive disorder allows appropriate genetic counselling.
A statistical approach to the discrimination of the cranial form.
In a study of lateral cephalographic dimensions, their multivariate statistical analysis was shown to discriminate between patients with gross cranial anomalies and controls exhibiting no abnormal morphology. Although the degree of discrimination depended upon the group of dimensions included in the analysis, discrimination was more consistent than when compared using univariate statistical techniques. As cephalographic dimensions combine both size and shape parameters together, however, the interpretation of such contrasts must await more specific analytic techniques development.
Prenatal diagnosis in Becker muscular dystrophy.
Prenatal diagnosis in a pregnancy at risk for Becker muscular dystrophy is reported. The diagnosis was made prior to 12 weeks of gestation by typing a CVS sample for DNA markers.