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F J Rutten

Publications and source records attributed to F J Rutten.

15 recordsLinked to original sources
PubMed1981

alpha-Aminoadipic aciduria and persistence of fetal haemoglobin in an oligophrenic child.

The case of a mentally retarded girl with a number of dysmorphic features, Raynaud's phenomenon, hypotonia and petit mal seizures is presented. Laboratory investigations showed alpha-aminoadipic aciduria and a high level of fetal haemoglobin. Oral L-lysine loading resulted in a marked increase of alpha-aminoadipic acid in blood and urine. After 3 months of pyridoxine medication the increase of alpha-aminoadipic acid in blood and urine during the oral L-lysine loading test was less than in the test before treatment. A normal degradation rate of DL-alpha-amino [1-14C] adipic acid in fibroblasts of the patient, as measured by 14CO2 production, did not indicate a primary enzyme defect in the alpha-aminoadipic acid transamination or decarboxylation steps. The persistent HbF could be the result of stress on the erythropoiesis by a secondary induced defect in an early stage of haemoglobin synthesis in which alpha-amino-beta-ketoadipic acid, a structural analogue of alpha-amino-adipic acid, is an intermediate.

2-Aminoadipic Acid↗
PubMed1978

15/17 translocation in acute promyelocytic leukaemia.

A translocation between a chromosome 15 and a chromosome 17 was found in the bone marrow of a 14-year-old boy who had clinical and laboratory symptoms of acute promyelocytic leukemia (APL). As far as we know, this is the sixth case of APL with 15/17 translocation to be reported in the literature. This observation gives further support to the hypothesis that there is an association between this chromosomal rearrangement and APL.

Adolescent↗
PubMed1978

A case of partial 9p monosomy with some unusual clinical features.

A patient is described with a karyotype 46,XX,del(9)(qter leads to p22:) and having the main clinical characteristics of pure monosomy for part of the short arm of chromosome No 9, among which craniosynostosis and trigonocephaly. She has also a few atypical features: a clearly advanced osseous maturation, marked congenital vertebral anomalies and unusual dermatoglyphics.

Abnormalities, Multiple↗
PubMed1977

Monosomy 7 in two patients with a myeloproliferative disorder.

Clinical and laboratory data are presented for two patients with a dyshaematopoietic disorder, and monosomy 7 in their bone marrow cells. The first patient, a 55-year-old woman, had been treated with chlorambucil for an ovarian carcinoma. After 4 years an oligoblastic myeloid leukaemia was diagnosed and she later died with an acute transformation of the disease. The second patient, a 21-year-old male, has had a dyserythropoietic anaemia with transient pancytopenia for over 5 years without any signs of malignancy. The possible relationship between therapy, the monosomy 7 and the other bone marrow abnormalities is briefly discussed. From an analysis of the data of these and comparable cases in the literature it appears that loss of chromosome No. 7 material is often associated with erythropoietic disorders such as erythroid hyperplasia and erythraemia. The reduction or absence of the Colton blood group antigens found in our patients and in a few other monosomy 7 cases also points to an abnormality of the red cell line.

Adolescent↗
PubMed1977

Bloom's syndrome in two Dutch families.

The clinical and cytogenetic data are presented of four children with Bloom's syndrome, who belong to two unrelated Dutch families. The patients showed, in varying degrees, the clinical features most characteristic of the syndrome: stunted growth; telangiectatic facial erythema; sun-sensitivity of the skin; and decreased immuno-competence. In one child the skin lesions were only minor and the diagnosis would probably not have been made if her sib had not been recognized as having Bloom's syndrome. The cytogenetic characteristics of the syndrome were present in all patients. Each showed a high number of chromosomal aberrations and numerous sister-chromatid exchanges per cell.

Abnormalities, Multiple↗
PubMed1975

Trisomy 4p in a family with A t(4;15).

This report concerns a trisomy 4p in a mentally retarded girl with multiple congenital anomalies. A translocation between chromsomes Nos. 4 and 15 was discovered in three generations of the patient's pedigree.

Abnormalities, Multiple↗
PubMed1973

Acquired trisomy 9.

Explore the source record for details and available documents.

Chromosomes, Human, 6-12 and X↗
PubMed1967

Interruption of malaria transmission by chloroquinized salt in Guyana, with observations on a chloroquine-resistant strain of Plasmodium falciparum.

Malaria and its local vector, Anopheles darlingi, were eradicated from the coastlands and near interior of Guyana by DDT house-spraying in 1945-51. In the remote interior, where 10% of the population live, only partial control could be achieved, owing to the semi-silvatic habits of A. darlingi and the considerable movement of the sparse population; low malaria endemicity persisted in these areas with occasional localized outbreaks. In the south-west the problem was further complicated by the presence of malaria across the frontier.During the years 1961-65, the use of chloroquinized salt was made compulsory over an area of some 109 000 km(2), covering a population of 48 500. Satisfactory results were obtained over 84% of this area within 6 months of the start of the campaign; only four cases of malaria were seen in four years. In the south-west, however, an initially favourable trend was reversed in 1962 with the introduction of a chloroquine-resistant strain of Plasmodium falciparum from Brazil. The situation was brought under control by house-spraying with DDT and interruption of transmission is expected.

Chloroquine↗