Browsing by Author "Torrington, M."
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- ItemLinkage study of the low-density lipoprotein-receptor gene and cholesterol levels in an Afrikaner family : quantitative genetics and identification of a minor founder effect(Health & Medical Publishing Group, 1990) Brink, P. A.; Brink, L. T.; Torrington, M.; Bester, A. J.Overlap of clinical and biochemical characteristics between hypercholesterolaemia in members of the general population and familial hypercholesterolaemic (FH) individuals may lead to misdiagnosis. Quantitative analyisis of family data may circumvent this problem. A way of looking for an association between plasma cholesterol levels and restriction fragment length polymorphism markers (RFLP) on the low-density lipoprotein (LDL) receptor gene by using reference cholesterol distributions was explored. Linkage, with a logarithm of the odds (LOD) score of 6,8 at θ 0, was detected between cholesterol levels and the LDL receptor in an extended Afrikaner family. Two RFLP-haplotypes, one previously found in a majority of Afrikaner FH homozygotes, and a second, Stu I -, BstE II +, Pvu II +, Nco I +, were associated with high cholesterol levels in this pedigree.
- ItemProgressive familial heart block (type I) : a follow-up study after 10 years(Health & Medical Publishing Group, 1988) Van der Merwe, P.-L.; Weymar, H. W.; Torrington, M.; Brink, A. J.A follow-up study was done on 55 patients, all members of families with type I progressive familial heart block (PFHB) examined during 1977. Of the 55 patients 5 had died, 17 had normal ECGs while 7 with previously abnormal ECGs remained unchanged. All the others had progressed to a more severe form of heart block and 8 of them had received permanent pacemakers. These findings again emphasise the importance of regular ECG follow-up examinations of members of PFHB families.
- ItemProgressive familial heart block, two types(Health & Medical Publishing Group, 1977) Brink A. J.; Torrington, M.Two types of heart block which occur extensively in families in the Republic of South Africa are reported. A type I heart block tends to have the pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together, and manifested clinically when complete heart block supervenes, either with syncopal episodes, Stokes-Adams seizures or sudden death. The condition is inherited r356w1++3.3.1 as an autosomal dominant gene and appears to be progressive in nature; the risk to life appears to be greatest at 3 particular periods: at or soon after birth, during puberty and the early 20s, and again towards middle age. The type II condition also appears to be progressive and is inherited as an autosomal dominant gene. The pattern, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, again presenting clinically as syncopal episodes, Stokes-Adams seizures or sudden death when complete heart block supervenes. Both conditions are likely to be widely prevalent throughout the Republic of South Africa. The pathogenesis is discussed in relation to the patterns of the conduction disturbances.
- ItemA study of a family with inherited disease of cardiac and skeletal muscle. Part II. Skeletal muscle morphology and mitochondrial oxidative phosphorylation(Health and Medical Publishing Group -- HMPG, 1981-03) Lochner, A.; Hewlett, R. H.; O'Kennedy, A.; Van der Walt, J. J.; Tiedt, F. A. C.; Hoffman, H.; De Graaf, A. S.; Przybojewski, J. Z.; Torrington, M.Skeletal muscle morphology and mitochondrial oxidative phosphorylation capacity were examined in a family whose members showed varying combinations of mental subnormality, cardiomyopathy and muscle weakness. Light and electron microscopic findings suggested a neuropathic process, while tests of mitochondrial function indicated a state of tight coupling of oxidative phosphorylation, a feature in marked contrast to those in biochemical studies so far reported.
- ItemA study of a family with inherited disease of cardiac and skeletal muscle. Part III. Genealogical considerations and associations with low intelligence(Health and Medical Publishing Group -- HMPG, 1981-03) Torrington, M.; Przybojewski, J.,Z.; Hoffman, H.; De Graaf, A. S.; Hewlett, R.; Lochner, A.; O'Kennedy, A.; Tiedt, F. A. C.; Van der Walt, J. J.A family with inherited cardiac and skeletal muscle disease was also found to have members with low intelligence. The effects of social and environmental conditions upon the behaviour of family members are described, with particular attention to the sociomedical problems created by the combination of a hereditary disease and low intelligence.