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Biomedical subjects

F Losan

Publications and source records attributed to F Losan.

At least 19 recordsLinked to original sources

Cytogenetic analysis of chromosomal aberrations of peripheral lymphocytes in workers occupationally exposed to nickel.

The authors carried out a cytogenetic examination of chromosomal aberrations of peripheral lymphocytes (100 cells evaluated in each sample) with simultaneous monitoring of the level of exposure by means of determination of nickel in the urine, serum and hair. The series included 21 workers occupationally exposed to nickel at two workshops producing NiO (6 persons) and NiSO4 (15 persons) in a chemical plant. At the same time a comparable control group, i.e., 19 workers of the same chemical plant but without any direct occupational nickel exposure (clerks, service men, etc.), were examined in the same way. In the exposed group chromosomal aberrations of peripheral lymphocytes were detected with an average value of 6.41 +/- 1.9% (range 2-14%); in the group producing NiO it was, on the average, 9.5 +/- 3.2% (range 7-14%) whereas in the NiSO4 production workers it was only 5.2 +/- 1.9% (range 2-10%). There was a dependence of chromosomal aberrations of peripheral lymphocytes on the exposure time and on the nickel content of the biological material. Significantly increased values (in contrast to the normal value of chromosomal aberrations of peripheral lymphocytes, up to 2%) were detected in the control group as well (average value of 4.05 +/- 2.27%, range 1-10%). The authors explain this fact by the nickel-polluted environment of the whole observed chemical plant.

Adult

[Diagnosis of Turner's syndrome 1965-1989: karyotype, age at diagnosis and determining signs].

Early diagnosis of Turner's syndrome makes possible optimal application of all procedures of substitution and symptomatic therapy and offers also psychological support to the parents and the patients. In 1965-1989 in two centres 135 girls with Turner's syndrome were detected, 72 with karyotype 45, X, 63 with a chromosomal mosaic and/or structural anomaly. Girls and women with karyotype 45, X are detected sooner (9.4 +/- 6.9 years, as compared with 14.2 +/- 8.1 years, p = 0.0003). Before the age of three 28% of the girls with karyotype 45, X were detected (by congenital lymphoedemas, coarctation of the aorta, poor progress), only 9% of the others. Growth impairment revealed the diagnosis in 27% of the affected girls. Girls with karyotype 45, X were diagnosed on account of impaired growth sooner (7.9 +/- 2.2 years as compared with 11.8 +/- 2.7 years, p = 0.00005). At a time when the diagnosis of girls with karyotype was practically completed, 16% of the spontaneously maturing and menstruating women with chromosomal mosaic where the syndrome was detected during examination of sterility or habitual abortion were still not diagnosed.

Age Factors

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.

Adult

Results of screening for phenylalanine and other amino acid disturbances among pregnant women.

Blood specimens were collected from 15000 pregnant women during the first 3 months of their pregnancy and screened for amino acid disturbances by means of paper chromatography. A high incidence of disturbances in the phenylalanine metabolism was discovered: three cases of mild hyperphenylalaninaemia without phenylpyruvicaciduria (incidence 1:5000); two cases of mild hyperphenylalaninaemia with phenylpyruvicaciduria (incidence 1:7550); four cases of mild phenylketonuria (incidence 1:3750). Disturbances in the metabolism of other amino acids were found to be rare. Metabolic and genealogical findings in some detected families are briefly described.

Adult