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Biomedical subjects

D F Roberts

Publications and source records attributed to D F Roberts.

At least 145 records · Page 8Linked to original sources
PubMed1977

Genetic variants of cytoplasmic malate dehydrogenase (MDH:EC:1.1.1.37) in populations in England and the Indian subcontinent. A new S-MDH variant.

A new variant malate dehydrogenase is described, designated S-MDHInd to indicate its discovery in the Indian subcontinent pending full comparison with all other variants. It occurred during a survey of the incidence of variant S-MDH phenotypes in 4149 subjects in north-east England and 1494 subjects from several populations in the Indian region. The variants previously thought to be restricted to the New Guinea region and to African populations occurred in three English subjects in northeast England. The incidence of variant S-MDH phenotypes in other populations is summarised.

Bangladesh↗
PubMed1977

A study of menarcheal age in India.

A study of menarcheal age was carried out in southern India. A logit method of analysis was applied to status quo data on 1267 Tamil and Telugu speaking girls aged 9 to 18 years in 3 schools catering for different socio-economic groups. There appears to be no relationship of menarcheal age with dietary pattern classified simply as vegetarian and non-vegetarian. Differences in median age at menarche between schools correspond well with the socio-economic differences between them. The median age in the most advantaged school (12-86 years) is comparable with that in recent studies in southern and eastern Europe, and may perhaps be in advance of some recent north-west European samples.

Adolescent↗
PubMed1977

Genetic polymorphisms in Afghanistan.

The gene frequencies in samples of two language groups from Afghanistan, comprising 104 Pushtu and 179 Dari subjects living in Kabul, have been examined for 24 loci. Some systems suggest greater affinity to the west (e.g. the MS gene combination, the esterase D2 allele), some to the east (e.g. the K blood group), while others are intermediate between those of India and the Orient on the one hand, and Europe and the West on the other. In general, the gene frequency levels are much as would be expected from the geographical position of the country. The two language samples are essentially similar in gene frequency, so any earlier gene frequency differences that may have existed between the language groups are no longer distinguishable. However, the amount of heterozygosity shows that the Kabul population is not yet homogeneous and that the two endogamous linguistic groups remain disparate to some extent.

Afghanistan↗
PubMed1977

Immunoglobulin levels in dystrophia myotonica.

Levels of immunoglobulins IgG, IgA, and IgM were measured in 38 patients with myotonic dystrophy, in normal members of their families, and in matched controls. Log IgG was significantly reduced in the patients. IgG investigation provides a further parameter to appraise the status of apparently unaffected members of myotonic dystrophy families.

Humans↗
PubMed1977

Immunoglobulin levels in Iraq.

In a study of immunoglobulin levels in 192 apparently healthy individuals in Iraq, regional differences occur in IgE and IgG. The main levels of IgG, IgM and IgA tend to be low, and of IgE clearly elevated. It is suggested that this pattern may be explained by the presence of intestinal parasites which stimulate IgE production. The genetic differences that exist between the regional populations, and the occurrence of associations of immunoglobulin level with several polymorphic systems, suggests the possibility of a genetic element in the regional immunoglobulin differences.

Blood Group Antigens↗
PubMed1976

A survey of glucose-6-phosphate-dehydrogenase deficiency in the North Central Province of Sri Lanka (formerly Ceylon).

A high frequency of the G6PD deficient gene was detected in the North Central Province of Sri Lanka. The frequency in the ancient villages is much higher than that of the recently colonised areas. The Sinhalese and Ceylon Moors have a significantly higher frequency as opposed to the Ceylon Tamils. The distribution appears to be related to a history of exposure to malarial endemicity.

Adult↗
PubMed1976

Environmental correlations of skin colour.

Skin colour data obtained by reflectance spectrophotometry on indigenous populations are compared with environmental variables--latitude, temperature, humidity and altitude. Association with latitude predominates at all wavelengths. Temperatures show a small but appreciable association at the shorter wavelengths, humidity at wavelengths above 595 nm. Over 80 per cent of the total interpopulation variance at each wave length is accounted for by these variables, more at the shorter wavelengths. It is suggested that skin colour should be regarded as a complex of entities of differing selective values rather than a single entity.

Adult↗
PubMed1976

A family study of coarctation of the aorta.

Families of 100 patients with coarctation of the aorta and 50 controls for age, sex, and social status were studied to assess the influence of genetic and environmental variables in the aetiology. A tendency to familial aggregation of the condition and other congenital heart defects compatible with multifactorial inheritance was discerned. Recurrence risk for sibs is approximately 1 in 200 for coarctation of the aorta, and 1% for any form of congenital heart defect. The heritability of coarctation is estimated at 58%. The tendency for other non-cardiac defects to occur in the patients with coarctation does not appear in their sibs and is not so pronounced as in some other congenital heart conditions. Of the several environmental variables examined, there was no definitive association with any other than season of birth, which implies a possible association with maternal infection; there is also a suggestion of a paternal age effect, but these require investigation in a prospective survey.

Abnormalities, Multiple↗
PubMed1976

Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY) and he was clinically less severely affected than his brothers. Coincidentally five other members of the family suffered from a form of familial spastic paraplegia.

Adult↗
PubMed1975

Some hereditary blood factors of the Bengali Muslim of Bangladesh (red cell enzymes, haemoglobins, and serum proteins).

In a sample of Bengali Muslems from Dacca, haptoglobin, group-specific component, haemoglobin, adenosine deaminase, adenylate kinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase, acid phosphatase and several other red cell enzyme types were studied. For most serum protein and red cell enzyme systems the gene frequencies are similar to those in other populations to the west of Bangladesh, but others suggest affinity with populations to the east.

Acid Phosphatase↗
PubMed1975

Serum alkaline phosphatase in patients with multiple sclerosis.

Sera from multiple sclerosis patients show a deficit of intestinal alkaline phosphatase (serum type Pp2) by comparison with normal sera. This is not due to variation in ABO frequency, since the specimens from patients and normals are matched for ABO frequency, and it is not due to differences in secretor frequency, but represents a real dificit for Pp2 in patients with multiple sclerosis, particularly noticeable in group O individuals.

ABO Blood-Group System↗
PubMed1975

Retinoblastoma-a clinical survey and its genetic implications.

A clinical, pathological and genetic study was made of 50 patients with retinoblastoma in the Newcastle Hospital region over the period 1931-1970 inclusive. Twenty-seven patients were affected in one eye only; 23 had bilateral tumours. The incidence of the tumour was approximately 1:16,000 live births. Bilateral cases tended to present at a younger age, and were more likely to be familial. In bilateral cases the tumour in the second eye was often detected at an early stage by ophthalmoscopy. In a quarter of the cases there was a considerable interval (up to 10 years) before the second eye was found to be affected. A surprisingly large proportion of eyes with clinically advanced tumour proved to have the tumour histologically confined to the retina. This disparity between clinical and pathological severity emphasises the jusifiability of conservative treatment in the first instance in many cases. Twelve of the 50 patients developed a new tumour, local spread, or reactivation of a treated tumour, over a period ranging from 2 months to 10 years after primary treatment. This finding emphasizes the importance of frequent follow-up of all cases. Follow-up should include the patient's siblings and offspring, even in apparently "sporadic" cases. The of liability to develop retinoblastoma is suggested.

Child↗
PubMed1975

Menarcheal age in Northumberland.

A second survey of age at menarche in north-east England, how it is affected by family environment and how it affects physique, was carried out in 1960-70 on a large sample of schoolgirls in the suburbs of Newcastle. Age at menarche shows no independent effect of social class or of position in sibship, but is strongly influenced by the size of family in which a girl grows up. Menarche is associated with pronounced increments in height and weight, in the presence of which no consistent effects of variables of the family environment on physique can be clearly identified. The results are very similar to those from the first study in South Shields, County Durham.

Adolescent↗