Biomedical subjects
Publications and source records attributed to M Nyholm.
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The consequences of two amino acid polymorphisms of human electron transfer flavoprotein (alpha-T/I171 in the alpha-subunit and beta-M/T154 in the beta-subunit) on the thermal stability of the enzyme are described. The alpha-T171 variant displayed a significantly decreased thermal stability, whereas the two variants of the beta-M/T154 polymorphism did not differ. We wished to test the hypothesis that these polymorphisms might constitute susceptibility factors and therefore determined their allele and genotype frequencies in (i) control individuals, (ii) medium-chain acyl-CoA dehydrogenase-deficient patients homozygous for the K304E mutation (MCAD E304), (iii) a group of patients with elevated urinary excretion of ethylmalonic acid (EMA) possibly due to decreased short-chain acyl-CoA dehydrogenase activity, and (iv) in patients with proven deficiency of very-long-chain acyl-CoA dehydrogenase (VLCAD). No significant overrepresentations or underrepresentations were found in the first two patient groups, suggesting that the polymorphisms studied are not significant susceptibility factors in either the MCAD E304 or the EMA patient group. However, in the VLCAD deficient patients the alpha-T171 variant (decreased thermal stability) was significantly overrepresented. Subgrouping of the VLCAD patients into three phenotypic classes (severe childhood, mild childhood, and adult presentation) revealed that the overrepresentation of the alpha-T171 variant was significant only in patients with mild childhood presentation. This is compatible with a negative modulating effect of the less-stable alpha-T171 ETF variant in this group of VLCAD patients that harbor missense mutations in at least one allele and therefore potentially display residual levels of VLCAD enzyme activity.
In our comparative study of a Rodenstock sight-screener and a clinical eye examination, an orthoptic examination was included. The present study describes the orthoptic examination of 109 subjects and evaluates the predictive diagnostic value of Lang two-pencil test, TNO stereotest and Bagolini striated glasses. We found 14 orthoptic pathological cases most of which could be revealed by an accurate cover test. The TNO stereotest and the Bagolini glasses have high predictive diagnostic values of negative and even of positive tests. If one of these tests is used as a supplement to the ophthalmological examination and anamnesis, we find it to be a valuable hint of orthoptic normality or abnormality. If an orthoptic pathology is suggested, this must be followed by a complete orthoptic examination concerning diagnosis and treatment.
A rodenstock sight-screener has been used in examinations of more than 20 000 employees in trade and industry by an organisation sponsored by Danish optical companies. In a following report it was stated, that a great deal of these people, because of reduced sight-function, would benefit from further examination by optician or ophthalmologist with prescription of glasses. On that background we undertook an examination of 109 adults working in our hospital. First they were tested with the Rodenstock sight-screener and afterwards they underwent orthoptic and clinical ophthalmological examinations in a blind design. The sight-screening included examination of vision for near and far, stereopsis, phoria, dark adaption and visual fields. We found some difference between our results and those published earlier. Furthermore we found bad clinical accordance. In conclusion, many people will be worried by this kind of sight-screening procedure and only few will benefit from it.
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17 amblyopic children between 4 and 9 years were fitted with high power plus extended wear soft contact lenses (Scanlens 24 h, Duragel 75) for optical occlusion of strabismic amblyopia. Amblyopia and eccentric fixation responded quickly to treatment between 2 to 13 weeks. Only one patient failed to reach 6/9, and 11 patients achieved equal visual acuity. Out of 10 patients with eccentric fixation only two remained eccentric after treatment. The contact lenses were tolerated by the children. Among the problems, concerning the use of extended wear soft contact lenses, should be mentioned fitting problems, deposits, loss of lenses (1 child needed 4 lenses) and occurrence of conjunctivitis (5 eyes). No major infections were seen. A one year follow-up showed that almost all the children needed renewed occlusion treatment. It is therefore recommended to continue with contact lens occlusion for at total period of 3 months.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.