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Biomedical subjects

J Leisti

Publications and source records attributed to J Leisti.

At least 73 records · Page 4Linked to original sources
PubMed1984

Chromosome aberrations in lymphocytes of nurses handling cytostatic agents.

In an evaluation of the possible chromosome damage caused by cytostatic agents 11 nurses with long-term exposure to such agents were studied. Five laboratory workers and 11 hospital clerks served as referents. The number of chromosomally aberrant lymphocytes was significantly higher in the group of nurses than in the group of laboratory workers or hospital clerks. The number of chromosome-type breaks was increased significantly among the nurses as compared to the reference groups. There was no significant difference in the number of chromatid-type breaks between the groups. The observed increase in chromosome-type aberrations may have been due to long-term occupational exposure to cytostatic agents.

Adult↗
PubMed1983

Marker X-associated mental retardation. A study of 150 retarded males.

One hundred and fifty male patients with mental retardation of unknown origin were studied cytogenetically. Six patients (4%) were marker X-positive. All these index cases were found in a subgroup of patients with no dysmorphic features, significant neurological findings or childhood psychosis. In this subgroup the frequency was 8.8%. One of the index cases had a family history suggestive of X-linked mental retardation, four had retarded 1st degree relatives and one had no family history of mental retardation.

Adolescent↗
PubMed1980

Oblique facial clefts: case report.

In a material of about 3,600 facial clefts eleven oblique clefts were observed (3.1%). The most frequent types were the medial oro-ocular and naso-ocular clefts and their combinations. There were two atypical cases and one lateral oro-ocular variety. The oblique clefts were frequently associated with other types of clefts and/or more distant anomalies. No genetic chromosomal or environmental factors were found to explain their etiology. Amniotic bands could possibly be thought to be responsible for the severe malformations in two instances. The lacrimal apparatus was always involved to some degree with the exception of a few incomplete forms. In the alveolar arch the cleft seemed to be situated between the medial incisor and the canine.

Adult↗
PubMed1980

Partial trisomy 1 (q42 leads to ter).

Clinical findings on three closely related, severely malformed infants and a 20-week-old fetus with an identical partial trisomy of chromosome 1 (1q42 leads to ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide sutures and fontanels, characteristic facial features, colobomata of the iris, small hands and feet, and early death.

Abnormalities, Multiple↗
PubMed1979

Wegener's granulomatosis in childhood. A clinical report based on 3 cases.

Wegener's granulomatosis is a very rare disease in children; only 10 cases have been reported in the literature. The present report describes 3 cases where Wegener's granulomatosis developed at an early stage, beginning with upper respiratory tract symptoms. All the 3 children have been successfully treated with a combination of azathioprine and corticosteroids.

Adolescent↗
PubMed1979

Hexokinase deficiency in erythrocytes: a new variant in 5 members of a Finnish family.

15 cases of congenital haemolytic anaemia have thus far been attributed to hexokinase (HK) deficiency in erythrocytes. We report some clinical, biochemical and genetic findings from 5 members of a Finnish family with this deficiency. The proband, a 1-year-old girl, was the only patient with anaemia. All subjects had either mild or marked reticulocytosis. Red cell ATP levels were at the lower range of normal in all subjects and 2,3-DPG was abnormally low in one. The activities of red cell enzymes, other than HK, were within or above the normal range, respectively. The Km-values for glucose and fructose were elevated (ATP normal) in the subjects with HK deficiency. We speculate that the family represents heterozygosity of a mutant allele and that there is phenotypic variation associated with the HK mutant. The locus might be subject to mutations which lead to a variety of HK variants and to a spectrum of diseases. This point of view is in accordance with the overwhelming variation of reaction kinetics and metabolic effects of this and other reported cases.

Adenosine Triphosphate↗
PubMed1976

Mapping of the gene for glutathione reductase on chromosome 8.

Red cell glutathione reductase (E-GSR) activity in 3 patients with mos46,XY/47,XY,+8 was higher than the mean value in controls, confirming the previous assignment of the E-GSR locus to chromosome 8. In a infant with a terminal deletion of the short arm of chromosome 8, 46,XX,del(8)(:p21 leads to qter), E-GSR activity was markedly lower than in infant controls. The authors suggest that the E-GSR locus is in the region 8p21 leads to pter.

Chromosome Mapping↗