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Biomedical subjects

A M Veale

Publications and source records attributed to A M Veale.

At least 19 recordsLinked to original sources
PubMed1989

Transient neonatal tyrosinaemia.

Children who had presented with transient neonatal tyrosinaemia (TNT) were compared with a group of unaffected controls at 7-9 years of age. A comprehensive psychometric assessment revealed significant differences between the groups in adaptive behaviour, psycholinguistic abilities, and speed of learning. In nearly all components of the tests used, higher levels of TNT were associated with lower levels of performance. This study demonstrates that TNT, a condition commonly regarded as benign in the short term, has long-term effects which may be detrimental to the child in school.

Adaptation, Psychological↗
PubMed1987

Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families.

To determine the mode of inheritance of hypertrophic cardiomyopathy 193 first degree relatives (parents, siblings, and offspring) of 50 patients with hypertrophic cardiomyopathy were assessed by clinical examination, electrocardiography, M mode and cross sectional echocardiography, and necropsy when available. Thirty nine (20%) first degree relatives had hypertrophic cardiomyopathy--37% of parents, 25% of siblings, and 8% of offspring. Eight (23%) of 35 affected relatives diagnosed by echocardiography had normal clinical and electrocardiographic findings. In the total study group 43% of the male population and 30% of the female population were affected. This difference is statistically significant. In 28/50 families there was familial occurrence of hypertrophic cardiomyopathy. Familial occurrence was demonstrated in 17 of 18 families in which five or more family members were assessed. In 15 families the pattern of inheritance was consistent with an autosomal dominant trait; in the other 13 the affected members were identified in a single generation and the pattern of inheritance could not be determined.

Adolescent↗
PubMed1979

Role of modifying alleles in the heritable colorectal cancer syndromes with polyps.

It is proposed, based on in vitro studies on hereditary colorectal cancer syndromes (adenomatosis of the colon and rectum, ACR), that the presence/absence of specific abnormal culture phenotypes within and between such ACR kindreds will demonstrate the interaction of a modifying allele with its proposed major polyposis gene, influencing expression of this major gene, at least in vitro. Such in vitro evidence would suggest that the variability of clinical phenotype was due, at least in part, to such gene-gene interaction and this should be considered as well as the influence of enviornmental agents on the development of both pre-malignant lesions and clinical cancer in such cancer-prone families.

Alleles↗
PubMed1979

Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome.

A girl with a complex rearrangement of chromosome 9 is reported. She shows the characteristic clinical features of monosomy 9p syndrome. The rearrangement was apparently preceded by four breaks which resulted in a presumptive tiny deletion of the distal end of the short arm, inversion of the rest of this arm and a proven deletion of the secondary constriction region of the long arm. By means of C-banding, it was possible to demonstrate the paternal origin of the rearranged chromosome 9. Finally, it is shown that the region determining the phenotypic expression of monosomy 9p syndrome is seemingly located at band 9p24.

Aneuploidy↗
PubMed1978

Genetics of gastrointestinal polyposis.

This review deals with the types of gastrointestinal polyposis in which genetic factors play an essential part, namely, the hamartomatous lesions of Peutz-Jeghers syndrome and multiple juvenile polyposis and the neoplastic tumors of familial polyposis coli and multiple adenomas. The mode of inheritance, associated lesions, malignancy potential, and possible interrelationships between the various types of polyposis are discussed. The knowledge that the lesions are inherited should enable other family members to be investigated and treated at an early stage, a matter of considerable importance in the prevention of cancer when there is an associated risk of gastrointestinal carcinoma.

Adenoma↗
PubMed1977

Down's syndrome and deletion of short arms of a G chromosome.

A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that this chromosomal variant may predispose to developmental abnormalities or to non-disjunction, or both.

Adult↗
PubMed1975

Galactosaemia: estimated live birth incidence in New Zealand.

194 cord blood samples were studied in both a fluorimetric assay and an electrophoresis method for Gal-1-PUT. From this the expected live birth incidence was 1:37000. The New Zealand neonatal screening programme has detected 5 cases in 223326 live births--an apparent incidence of 1:44600. The Beutler testing of dried blood spots collected on filter paper cards is a satisfactory method of detecting galactosaemia in the neonate.

Fetal Blood↗
PubMed1975

Familial leukaemia: a study of 909 families.

A family survey was conducted among 909 patients with leukaemia of all types, with the purpose of establishing the incidence of further cases of leukaemia among relatives. Among a total of 41,807 relatives 8,349 were deceased, and the cause of death was objectively confirmed in 5,011. 72 patients had one or more relatives with leukaemia. First degree relatives with leukaemia were much more frequent in families of patients with chronic lymphocytic than in those of patients with chronic granulocytic leukaemia. The incidence of leukaemia among first degree relatives was established to be 2.8-3.0 times, among more distant relatives about 2.3 times, and overall about 2.5 times that expected. This excess is of the order of that observed in relatives of patients with certain solid tumors. Genetic factors may have accounted for much of the excess incidence in chronic lymphocytic and acute leukaemia, but there was little evidence for a genetic background in chronic granulocytic leukaemia. With the possible exception of one family with multiple cases, a simple Mendelian mechanism did not appear to be involved in the leukaemia families investigated. It appeared more likely that a polygenic mechanism led to a heightened susceptibility to the disease in these families.

Acute Disease↗