Biomedical subjects

A Stoyanova

Publications and source records attributed to A Stoyanova.

3 recordsLinked to original sources

PubMed1996

Glanzmann's thrombasthenia in 11 cases of one family.

We report here the largest family in Bulgaria with Glanzmann's thrombasthenia which is inherited in an autosomal recessive manner. Eleven children in four successive generations were followed up. Clinically, the disease manifested in mucocutaneous haemorrhages. Five of the children died due to severe haemorrhagic episodes. The diagnosis was confirmed by haemostasic investigation; in some of the children the thrombocytes were examined by electron microscopy. Necessity of prenatal diagnosis is suggested.

Adolescent↗

PubMed1996

Solid tumours in newborns and infants.

Thirty two cases of solid tumours in newborns and infants were observed by the authors over a 15 year period. The most common type of tumours were soft tissue tumours (n = 8), neuroblastomas (n = 7), nephroblastomas (n = 5) and germ cell tumours (n = 5). Other types of embryonal tumours such as retinoblastoma and hepatoblastoma were observed in four children and non-Hodgkin's lymphomas in three children. Of 25 children followed up 18 survived. Five children died of their tumours and two children died of causes unrelated to their basic disease. Analysis of the fate of the patients and the effect of the therapy is made. It is concluded that malignant tumours prevail in infancy (90.6% of all cases). The percentage of patients treated successfully with insignificant risk for consequences from radiotherapy and chemotherapy is also high (72%).

Female↗

PubMed1994

Secondary diabetes in children with thalassaemia major (homozygous thalassaemia).

Life expectancy of patients suffering from homozygous beta-thalassaemia has been improved due to the modern treatment of this disease. This has allowed development of late hemosiderosis-related complications and disturbances of the endocrine and exocrine functions of the pancreas. Carbohydrate metabolism of 16 patients with thalassaemia major was studied. Three of them presented with a pronounced clinical picture and biochemical constellations of a severe diabetes mellitus. The remainder had no clinical symptoms of carbohydrate metabolism disorders. The pancreatic beta-cell function of the patients was assessed by measuring the serum concentrations of immunoreactive insulin and by a glucose tolerance test. Most patients showed very low basal insulin levels while glucose tolerance was reduced in only one of them. In this patient we also established delayed insulin response after an intravenous glucose load. We concluded that the disturbed insulin secretion found in the children studied is most likely the earliest manifestation of the pancreatic beta-cell insufficiency which precedes the changes in the glucose tolerance.

Adolescent↗