Biomedical subjects
Publications and source records attributed to J G Hall.
A patient with craniosynostosis and a small deletion of part of the short arm of chromosome 7 is described. A review of the literature indicates that craniosynostosis has occurred in at least four of the five infants (the fifth having microcephaly) affected by structural changes (resulting in deletion) within the terminal region of the short arm of chromosome 7.
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Genetic analyses, involving backcross and F2 matings, demonstrate that the type I hyperprolinemia of PRO/Re mice is caused by an abnormal allelet at a single locus designated pro-1. Mice homozygous for this allele (pro-1b/pro-1b) posses a deficiency in the activity of component 1 of mitochondrial proline dehydrogenase. In liver mitochondria of normal C57BL/6J mice, two proline dehydrogenase activity components are demonstrable by electrophoretic resolution of Triton X-100 solubilized extracts. In mitochondria of PRO/Re mice, the activity of component 1 is not readily detectable. Residual proline dehydrogenase activity in PRO/Re mitochondria appears, therefore, to be due in large measure to activity component 2 which is more stable to incubation at 40 C, exhibits slower electrophoretic mobility, and is less reactive to menadione. Kinetic analyses demonstrate a Km (proline) for the Triton X-100 solubilized enzyme activities of PRO/Re and C57BL/6J liver mitochondria of 0.4 M and 2.9 X 10(-3) M, respectively. C57BL/6J enzyme activity is inhibited by high substrate concentration. The actins of PRO/Re liver obtained by differential centrifugation. Abnormal control of respiratory chain function in PRO/Re mitochondria appears to involve primarily proline oxidation, as indicated by the level of activity of several inner membrane enzymes.
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A family is described with essential non-progressive chorea occurring in an autosomal dominant inheritance pattern over four generations. A few families with an apparently similar disorder have been reported previously. This condition is characterized by early childhood onset of chorea which is not progressive and is compatible with a long life. It is not associated with dementia, seizures, rigidity, or ataxia. It is a socially embarrassing condition and may, sometimes, be associated with behavioural problems and learning difficulties. For genetic counselling, it is important to distinguish this disorder from Huntington's disease and other hereditary disorders associated with chorea.
A method for cannulating the efferent duct of the prescapular lymph node of sheep was developed and carried out on over 100 occasions so that lymph could be collected from unanaesthetized sheep under physiological conditions. On average the lymph flowed at 9 ml/h and contained 15 X 10(6) lymphocytes/ml. The surgical procedure and relevant anatomical details are described.
Morphine, naloxone, nalorphine, levorphanol, dextrorphan and levallorphan were ejected electrophoretically from micropipettes near cholinoceptive and noncholinoceptive cells of the spinal cord, ventrobasal thalamus and cerebral cortex of decerebrate and barbiturate-anesthetized cats. Morphine excited those cells having nicotinic receptors for acetylcholine. Naloxone and nalorphine reduced the action of morphine and acetylcholine on these cells but not the effects of excitant amino acids. Levorphanol excited spinal neurons also excited by acetylcholine, an effect antagonized by naloxone, but also showed atropine-like activity when ejected for prolonged periods. Dextrorphan depressed the firing of both cholinoceptive and noncholinoceptive spinal neurons. Levallorphan reduced the effects of both acetylcholine and excitant amino acids on spinal neurons. The depressant effects of morphine and levorphanol on noncholinoceptive spinal neurons were not antagonized by naloxone.
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1. Two automated colorimetric methods have been developed for assaying the GSH and total thiol in protein-free extracts of erythrocytes. They employ as chromogens 5,5'-dithiobis-(2-nitrobenzoate) (DTNB) and alloxan. 2. The concentrations of GSH, GSSG and total non-protein thiol have been estimated in high and low GSH erythrocytes from Finnish Landrace and Tasmanian Merino sheep. 3. In both breeds of sheep low GSH cells were found to have low concentrations of total non-protein thiol and GSSG as well as of GSH. 4. Nevertheless high and low GSH cells have similar values for the oxidation-reduction potential of the GSH : GSSG couple.
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The normal anatomy of the three cochlear nuclei in the hen, the nucleus laminaris, the nucleus angularis and the nucleus magnocellularis is described. Following lesions of the cochlear nerve, all three nuclei are shown to receive primary cochlear fibers (silver impregnation methods). The part of nucleus laminaris which consists of a ventral convex sheet of cells is shown to receive cochlear nerve fibers from both ears, the nerve fibers from the ipsilateral ear terminating dorsal to the cell sheet while contralateral nerve fibers terminate ventral to the nerve cells. The cochlear ganglion cells projecting to the nucleus laminaris are apparently situated in other parts of the ganglion that the cells projecting to the nucleus angularis and magnocellularis. The findings are discussed in the light of known data on the organization and function of the cochlear nuclei in birds.