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Biomedical subjects

E S Azevêdo

Publications and source records attributed to E S Azevêdo.

At least 19 recordsLinked to original sources
PubMed1991

Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome.

We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty-four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution.

Abnormalities, Multiple↗
PubMed1991

Factor VIII:C, ABO blood groups, and black admixture in a Brazilian sample.

The effects of ABO blood groups and black admixture on the level of factor VIII:C are studied in healthy adults from Salvador, Bahia, Brazil. A racially mixed sample of 125 males was selected as follows: 25 whites, 25 light mulattoes, 25 medium mulattoes, 25 dark mulattoes, and 25 blacks. Levels of both factor VIII:C and K-PTT followed normal distributions. O blood group subjects showed lower factor VIII:C levels (110.20 +/- 30.76%) than non-O blood group members (135.24 +/- 31.42%) (t123 = 4.47; p less than 0.0001) and higher K-PTT levels (37.69 +/- 4.57 s) than non-O blood group subjects (35.25 +/- 3.82 s) (t123 = 3.24; p less than 0.01). By holding ABO blood type constant, there is a significant racial effect (white) on lowering the factor VIII:C level within both blood group O (t43 = 2.23; p less than 0.05) and non-O (t36 = 3.44; p less than 0.002). There is no interaction effect of race and blood group (F = 0.19; p greater than 0.6) on the factor VIII:C levels.

ABO Blood-Group System↗
PubMed1991

Null allele in a human polymorphism restricted to the placenta: call for a search.

The identification of a null allele in a human genetic system restricted to the placenta is a great challenge for two reasons: the impossibility of carrying out family studies and the unviability of sample recollections because the placenta itself is a disposable universe. Thus, in addition to reporting the finding of a null phenotype of placental alkaline phosphatase in a dark mulatto newborn from a black mixed population of Bahia, Brazil, here we present other evidence for the presence of the ALPP*Q0 allele with considerably high frequency in this population.

Alkaline Phosphatase↗
PubMed1984

Multivariate study of birth weight and maternal heterozygosity for sickle cell anemia in Bahia, Brazil.

A series of 1,008 newborns of indigent mothers from a mixed Brazilian population was studied with respect to the effect on birth weight of heterozygosity for sickle cell anemia, fetal sex, maternal age, parity, smoking, alcohol consumption and black admixture. Maternal heterozygosity for sickle cell anemia had no measurable effect on birth weight. Significant effects were found for male sex (increase) and smoking (decrease).

Anemia, Sickle Cell↗
PubMed1981

Generalized joint hypermobility and black admixture in school children of Bahia, Brazil.

Joint hypermobility was investigated in a sample of 3,000 school children, ages 6--7 years, in Bahia, Brazil. A sampling method was designed to assure an equal number of 50 children in the smallest size classes, when age, race, and sex were held constant. Race was classified in five subgroups to assess the proportion of black admixture. The overall frequency of generalized joint hypermobility was 2.3%. The darker the children the lower the frequency of affected children. However, this racial effect was also associated with age: The highest frequency of generalized joint hypermobility was among the youngest and less black mixed children, whereas among the oldest and darker children there was no case of joint hypermobility.

Adolescent↗
PubMed1981

Genetic and anthropological studies in the island of Itaparica, Bahia, Brazil.

The ongoing racial admixture was studied in the island of Itaparica off the coast of the State of Bahia, in Brazil. The following gene frequencies were observed: Hb S = 0.039; Hb C = 0.022; PGD C = 0.024; Gd A = 0.217 and Gd A = 0.052, among 293 mixed school children whose black phenotype index (medium mulatto + dark mulatto + black/total) was 0.457. Data on racial groups, obtained from 898 death certificates of three periods (1889-1890, 1934-1937 and 1975-1980) showed that in about 90 years (three generations) the proportion of mulattoes had doubled, the whites had decreased to one third, and the blacks showed no variation. Changes in the frequencies of surnames within the whites over the same 90 years indicated a growing proportion of individuals with black ancestry flowing into the white group. Higher reproductive rates among the more negroid individuals is probably the leading force directing the racial admixture in the island.

Black People↗
PubMed1980

Distribution of abnormal hemoglobins and glucose-6-phosphate dehydrogenase variants in 1200 school children of Bahia, Brazil.

School children from Bahia, Brazil were studied for hemoglobin and glucose-6-phosphate dehydrogenase electrophoretic variants. Eighty-nine heterozygotes Hb AS and 41 Hb AC were identified out of 1200 children. In a subsample of 369 male children there were 38 Gd A-, 38 Gd A, and six Gd Med. An example of Gd MG was identified and evidence is added to the suggestion that this allele is not rare in Brazil.

Brazil↗
PubMed1980

Inbreeding in a Brazilian general hospital.

A group of 925 adult in-patients of a Brazilian general hospital was matched by race (subdivided in five groups) and age with a group of 925 of their visitors, who were taken as controls. Illiteracy increases from Whites to Blacks and is significantly more prevalent among the patients than among their respective controls. Inbreeding, on the contrary, increases from Blacks to Whites. White patients showed a significantly higher rate of inbreeding than their corresponding controls. The difference is also significant for the fraction Whites plus Light Mulattoes, but not for the other race subgroups. As regards the total, the significance is present only in a one-tailed distribution. It is concluded that the inbreeding load (if any) acting on the total of the patients is negligible; it seems significantly different from 0 only among Whites. No inbreeding effect could be verified, however, on any particular condition among the Whites. Estimates of the number of morbid equivalents per gamete (morbons) revealed values which are both significantly (among Whites and Whites plus Light Mulattoes) and non-significantly (among the other racial subgroups) different from zero. These estimates reflect the situation in the sample which has been artificially organized to contain 50% of patients.

Adult↗
PubMed1979

Human aconitase polymorphism in three samples from northeastern Brazil.

Human aconitase (ACONS) polymorphism was studied in three samples from northeastern Brazil. Two of the samples were collected in the State of Bahia and one in the State of Sergipe. The main characteristic of the samples was given by different degrees of Black admixture. The results showed that the more negroid the samples the higher the frequencies of the alleles ACONS4, ACONS2 and ACONS6. These findings fit well with the known ACONS gene frequencies in present-day Nigerians and with the past history of Yoruba slaves in Bahia.

Aconitate Hydratase↗