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Biomedical subjects

M Super

Publications and source records attributed to M Super.

At least 109 records · Page 6Linked to original sources
PubMed1985

Velo-cardio-facial syndrome presenting as holoprosencephaly.

A baby with holoprosencephaly and the tetralogy of Fallot is described. The mother had operative correction of the same cardiac lesion and shows features typical of the velo-cardio-facial syndrome, an autosomal dominant disorder. The association between holoprosencephaly and this condition has not been previously reported. When holoprosencephaly is found associated with congenital heart disease, velo-cardio-facial syndrome should be sought in other family members.

Abnormalities, Multiple↗
PubMed1984

Isoelectric focusing of serum in genetic counselling of families with cystic fibrosis.

The high incidence of carriers of cystic fibrosis in the general population allows application of a less than perfect test to genetic counselling of relatives of children with the disorder and their spouses. In the absence of a definitive carrier detection test, we employ isoelectric focusing of serum in this way and include the a priori chance of carrier status in calculating the risk. The test will eventually be replaced but for the present is preferable in our hands to counselling based simply on the known gene frequency.

Adult↗
PubMed1984

Serum-IgE levels in rural Namibian infants.

Serum IgE levels were examined in 237 infants ages 2 wk to 12 mo in a remote rural area of Namibia. There was a wide range of values (0.5 to 884 IU/ml). The highest value in the first month of life was 295 IU/ml. Median values for the age groups 2 wk to 3 mo, 3 to 6 mo, and 6 to 12 mo were higher than those reported from Western countries. Values in general increased with age, but only 4% of the variation is explicable on this basis. There were differences between median values for male and female infants, but they did not reach statistical significance at the 5% level. Levels between Baster and Nama infants, the main ethnic groups in the area, did not differ. The median IgE levels in breast-fed infants, although high, tended to be lower than those in weaned infants. The differences were not statistically significant (p greater than 0.05). Investigations did not suggest that parasitic infestations or atopy were of significant importance. It was not possible to identify the factor(s) responsible for the high IgE levels. They must have been operative from very early life. However, the basic immunologic mechanisms involved are presumably genetically determined and similar to those responsible for the corresponding high IgG, IgA, and IgM levels reported in infants from developing communities.

Breast Feeding↗
PubMed1982

Controlled trial of serum isoelectric focusing in the detection of the cystic fibrosis gene.

Three independent observers assessed the discriminating power of serum isoelectric focusing in detecting the presence of the cystic fibrosis gene. On the basis of average scores, four out of 23 cystic fibrosis patients, six out of 22 heterozygotes, and three out of 16 controls were misclassified. However, the mean scores for the cystic fibrosis and heterozygote groups were significantly different to that for the control group. It is concluded that isoelectric focusing is insufficiently reliable to be used for diagnosis or heterozygote detection in cystic fibrosis, but that it does provide evidence for the presence of a protein associated with the mutant gene.

Blood Proteins↗
PubMed1979

Heterozygote advantage in cystic fibrosis: mosquito tests.

Tests to demonstrate a preference by mosquitoes for stinging controls as opposed to obligate heterozygotes for Cystic Fibrosis proved negative. If a heterozygote advantage caused a lower malarial incidence in carriers in South West Africa, it must have worked through the malarial parasite being adversely affected by a serum factor. This remains to be tested.

Culicidae↗
PubMed1978

Cystic fibrosis in Southern Africa. Including the preparation of a register of carriers and potential carriers.

Little has been published on cystic fibrosis (CF) in Whites in southern Africa, and no figures as to incidence exist. A register of CF patients, their parents (obligatory carriers), siblings, uncles, aunts and first cousins (potential carriers) has been compiled for southern Africa. The degree of co-operation shown by colleagues and by families whose addresses have been provided by them, and possible reasons for non-co-operation are discussed. From the numbers and birth dates of patients a rough estimate of the incidence in the Republic of South Africa, South West Africa and Rhodesia has been made. In all three regions, but especially in South Africa, incidence is likely to have been underestimated. Details available from the register include the number of CF patients alive and dead, those who presented with meconium ileus, the number of affected patients per family, consanguinity among the parents or grandparents, the frequency with which identical surnames were encountered, and the sibship sizes of all those on the register. Towns and districts with a population rich in the CF gene are mentioned. The number of potential carriers has been determined, so that they can be screened when a practicable detection test is devised. The register has answered a number of questions about CF in southern Africa. It has focused attention on the disease in the region and played a major catalytic role in the formation of the Southern African Cystic Fibrosis Association.

Child↗
PubMed1977

Cystic fibrosis.

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Cystic Fibrosis↗