Biomedical subjects
Publications and source records attributed to K Rasmussen.
Before the introduction of the banding technique we studied a boy presented as a case of 47, XX,?Yq-(Christensen and Nielsen, 1971). The case has been restudied with the use of different types of banding, which revealed the following karyotype 47, X,del(X)(p11 leads to q13::q21leads toq24), del(Y)(q11).
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1. The beta1-adrenoreceptor-blocking agent atenolol was studied in the treatment of twelve out-patients with essential hypertension. 2. With a mean dose of 110 mg of atenolol daily (range 75-200 mg/day) we observed a pronounced decrease in blood pressure. 3. Only minimal side effects were seen. 4. Cardiac output decreased from 4-6 to 3-4 l/min during treatment. This decrease did not correlate with the decrease in blood pressure but correlated well with the changes in calculated total peripheral resistance.
1. We have evaluated the effectiveness and safety of minoxidil in moderately hypertensive out-patients. Eight patients were treated with hydrochlorothiazide and minoxidil for 5 months. The only female patient developed slight, reversible facial hair growth. In the other seven patients there was a moderate decrease in blood pressure. There were only minimal side-effects. Mild exertional tachycardia and a mean increase in body weight of 0-5 kg was found, but no oedema or signs of cardiac insufficiency were observed. No abnormalities were seen during routine blood tests. 2. This study shows that minoxidil combined with a diuretic may be successfully used in treating moderately hypertensive male patients.
1. In a cross-over study between hydrallazine and prazosin in fifteen patients, also treated with the beta-receptor-blocking agent propranolol, 1 mg of prazosin was found to be equipotent with 30 mg of hydrallazine. 2. All patients were known to tolerate dydrallazine. In one patient prazosin treatment was discontinued because of severe headache. In four patients minor, non-persistent initial side effects were found. These might have been avoided by using a smaller starting dose. One patient fainted on the second day of prazosin treatment, probably from a micturition syncope. 3. Prazosin may be used as an alternative to hydrallazine. 4. The final status of prazosin as an anti-hypertensive drug is uncertain.20
Thirty-nine vectorcardiographic (VCG) data from 45 patients with pure adult aortic stenosis have been tested as to their ability to reflect quantitatively the peak systolic left ventricular pressure (LVPSP), the left ventricular end diastolic pressure (LVEDP), and the X-ray estimated heart volume. VCG was recorded with the axial lead system and simple and multiple linear regression analyses were applied. Eight VCG data correlated significantly (p less than 0.001) with LVPSP, the best indicator being the maximum posterior dislocation in the Z lead (r = 0.65). Through multiple regression analysis a formula was derived which gave a correlation coefficient between observed and calculated pressures of 0.82. The best indicator of LVEDP was the maximum positive P amplitude in the X lead (r = 0.41). The relationship was, however, too poor to have practical significance. A good correlation was found between ST segment dislocation and heart volume (r = 0.65), in good accordance with previous observations as to the effect of right ventricular dilatation on the ECG. The study illustrates how ventricular volume and pressure exert different effects on the ECG, and how all the important hemodynamic aspects in aortic stenosis to some degree are reflected. Only the pressure correlations have, however, practical importance.
Fifteen children with autosomal reciprocal translocations were found in an incidence study of chromosome aberrations among 11,148 consecutively liveborn children in a Danish Maternity Hospital (1.34 per 1,000). The segregation rate of the balanced forms was 60% and that of unbalanced forms 4%; the frequency of familial cases was 73%. None of the probands or their relatives who carried the balanced translocation had any physical or mental abnormalities which could be associated with the chromosome aberration. We found two children with unbalanced translocations among the 45 relatives examined, but more studies of unselected population groups are needed before any segregation rates for unbalanced derivatives of autosomal reciprocal translocations can be estimated. We found a significantly higher frequency of abortions, stillbirths and perinatal deaths in the progeny of carriers with the translocation, compared with non-carriers in the same families. The unbalanced forms of autosomal reciprocal translocations in most cases are probably not compatible with the development of a foetus to a liveborn, healthy child. Fifteen children with 13/14 translocation were found among 11,148 consecutively liveborn children. Incidence, segregation rates and type of translocation are discussed. Fertility and risk for carriers of D/D translocations of producing children with autosomal trisomy are discussed.
Thirty patients on long-term treatment with chlorpromazine in moderate doses showed deposits in the lens, and the majority of the patients also showed deposits in the cornea. These deposits did not increase in the 13 patients who continued on chlorpromazine during an observation period of 31/2 years. Thus, when chlorpromazine is used in moderate doses, the deposits in the eyes seem to increase only up to a certain extent. Twelve patients who were switched over to thioridazine showed no change in the deposition in the lens and cornea after the observation period, indicating that the deposits are irreversible. After the observation period visual acuity had deteriorated somewhat in the material as a whole, presumably because of advancing age, not because of the deposits. The risk of using chlorpromazine in moderate dosage is slight.
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The clinical and laboratory findings in a 2 1/2-year-old boy with non-ketotic hyperglycinaemia are reported. Except for a somewhat impaired liver function there was a picture similar to the cases previously reported in the literature. The patient deviated from the classical description, however, in the excretion of large amounts of D-glyceric acid in the urine. The same compound was also repeatedly found in the serum. It is suggested that the large amounts of glycine found in various body fluids are secondary to a hitherto undescribed enzymatic defect in the degradation of D-glyceric acid.
Studies of a mentally retarded boy, clinically suffering from nonketotic hyperglycinemia, are reported. Using combined gas chromatography-mass spectrometry, enzyme specificity studies, and spectropolariometry D-glyceric acid in extremely elevated concentrations was demonstrated in both serum and urine (serum: 1.0-1.3 mmol/liter, urine: 33-187 mmol/liter). Hydroxypyruvic acid was not detectable in urine from this boy using a gas chromatographic method with a limit of detection of 0.3 mmol/liter. Enzyme assays of D-glyceric dehydrogenase on blood leukocytes demonstrated significantly lower activity in the patient compared with five normal children.
Renewed examinatinon with improved banding techniques of a boy previously reported to have the karyotype 46, XY,del(12)(p11) revealed a translocation 46, XY,t(10;12)(p13;p11), and reexamination of a boy previously reported to have the karyotype 46,XY/46,XY,del(5)(p13) showed the same mosaicism, but with a significantly lower frequency of cells with del(5)(p13), 8% compared with 23% at the time of birth. The decrease of the frequency of cells with chromosome abnormality in mixoploids during the first years of life as found in the present case as well as in prevously reported cases is discussed.
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