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Biomedical subjects

E Tuncbilek

Publications and source records attributed to E Tuncbilek.

32 records · Page 2Linked to original sources
PubMed1980

Hematological evaluation of patients with various combinations of alpha-thalassemia.

Six patients and their parents from five different families with Hb H have been evaluated clinically and hematologically. Previous studies using restriction endonuclease mapping technique indicated that alpha-thalassemia determinants in these cases are heterogeneous. Only one of the five cases have the usual genotype for Hb H, which is characterized by an alpha-DNA-specific fragment of 20 kb long by Eco RI digestion. Three cases from two different families have Hb H disease with alpha-specific DNA fragments of 22.5 kg/2.6 kg long; and the other two have alpha-specific DNA fragments of 20 kb/2.6 kg long, in Eco RI digestion of the cellular DNA. The hematological examination of the parents suggests that the alpha-thalassemia condition associated with the Eco RI fragment of alpha-specific cellular DNA of approximately 22.5 kb long produces an alpha-thal-2-like clinical condition, while the other alpha-thalassemia determinant associated with a fragment 2.6 kg long results in an alpha-thal-1-like clinical condition. The clinical and hematological findings of the cases with 22.5 kb/2.6 kb fragment patterns were more severe than the case with the 20 kb/2.6 kb combination. This study suggests that variation in the clinical and hematological findings among patients with Hb H disease may well reflect a heterogeneity of the genotype combination.

Adult↗
PubMed1978

Accessory diaphragm in the left side.

A case with accessory diaphragm is presented. She was diagnosed primarily by X-ray and bronchography. The patient also had spina bifida at the T 1-2 level. The accessory diaphragm was on the left side in our patient, contrary to most of the reported cases. Since our patient was clinically in good condition surgical intervention was not considered. Previously reported cases are also reviewed especially in the respect of associated congenital malformations.

Bronchography↗
PubMed1977

Aglossia-adactylia syndrome (special emphasis on the inheritance pattern).

Three cases, one with aglossia-adactylia and two with aglossia, are presented, all of whom were born to consanguineous families. Although none of the cases had similarly affected sibs, the possibility of the autosomal recessive mode of inheritance might be taken into account in this syndrome. The dermatoglyphic findings in one previously reported patient showed great similarity to those of one of our cases.

Abnormalities, Multiple↗
PubMed1976

45,XO/46,XYg dic mosaicism in a patient with ambiguous genitalia.

45,XO/46,XYq dic mosaicism was found in a patient with ambiguous genitalia. The patient had dysgenetic testis and gonadoblastoma. The same mosaicism was found in skin and gonadal tissue cultured fibroblasts. Localization of the genes related to height and male determination is discussed.

Adolescent↗
PubMed1974

Trisomy-8 syndrome.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMedDate not supplied

CYP1A1 gene polymorphism and risk of endometrial hyperplasia and endometrial carcinoma.

The cytochrome P4501A1 (CYP1A1) is involved in the metabolism of environmental carcinogens and estrogen. We hypothesized that CYP1A1 genetic polymorphism may be a susceptibility factor for endometrial hyperplasia (EH) and endometrial carcinoma (ECa). We therefore evaluated this hypothesis in patients with EH and ECa and control subjects using allele-specific polymerase chain reaction-based method in a Turkish population. The patients with CYP1A1 Ile/Val genotype had a fivefold higher risk of having EH than those with Ile/Ile. In contrast, a higher frequency of any Val genotype (Ile/Val and Val/Val) was found in patients with EH, indicating that persons carrying any Val allele are at increased risk for developing EH. In the ECa group, patients were also more likely to have CYP1A1 Ile/Val allele, with an adjusted odds ratio of 3.0. Moreover, there was a statistically significant increase in relative risk association with any Val genotype between patients and controls, suggesting that individuals carrying any Val genotype are at increased risk for developing ECa. We concluded that variant alleles of the CYP1A1 gene might be associated with EH and ECa susceptibility. Further studies with a large sample size should be considered to address issues of interactions between CYP1A1 and other risk factors.

Adult↗