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Biomedical subjects

E Dmoch

Publications and source records attributed to E Dmoch.

13 recordsLinked to original sources

Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989.

In this report, we present the cytogenetic findings in 478 patients with Turner syndrome diagnosed in Leuven in the period 1965-1989. The karyotypic anomalies are classified into seven groups: 1) classic, 45,X karyotype (52.1%); 2) mosaic 45,X/46,XX (10.9%); 3) mosaic 45,X/47,XXX and other "super-female" cell lines (4.6%); 4) isochromosomes i(Xq) and i(Xp) (16.1%); 5) ring chromosomes r(X) (4.4%); 6) other structural aberrations of the X chromosome (7.7%); and finally 7) mosaic 45,X/46,XY patients (4%). The most pertinent chromosomal findings are briefly discussed and compared with previous reported surveys on subject.

Belgium↗

Turner syndrome: II. Associated anomalies, mental performance and psychological problems in 218 patients diagnosed in Leuven in the period 1965-1989.

Selected medical and psychosocial problems in 218 Turner syndrome patients diagnosed at the Leuven Centre for Human Genetics are reported here. Special attention is paid to the associated congenital malformations, the mental performance and the occurrence of psychosocial and/or characterological difficulties. Mental underdevelopment was documented in 50 patients (22.9 per cent) and psychosocial and/or characterological problems in a total of 44 patients (20.2 per cent). This study confirms that in patients with Turner syndrome diagnosis special attention should be drawn to the mental development and psychosocial problems.

Abnormalities, Multiple↗

The effectiveness of intrauterine transfusions.

The results of treatment with intrauterine transfusion are presented. The analysis comprised 48 successful transfusions into 29 foetuses. The reference group consisted of 11 transfusions which proved nonfeasible or ineffective and 54 untreated cases. Following blood treatment, the newborn mortality rate dropped more than threefold. Long-term follow-up of 21 children generally showed their good physical and mental development. We also present 4 cases of supsequent pregnancies after intrauterine blood treatment in a preceding pregnancy, showing that it is possible to save the next baby of the same mother.

Blood Transfusion, Intrauterine↗

[Blood flow in the umbilical vein in normal pregnancy].

Blood flow through the umbilical vein was measured with Doppler's technique in 206 pregnant women with normal course of pregnancy. Flow rate index, vein diameter and total blood flow per unit of fetal weigh have been calculated. It was found, that the blood flow rate and umbilical vein diameter increase with the growth of the normal pregnancy.

Blood Flow Velocity↗

[Blood flow in the umbilical artery in physiological pregnancy].

Fetal umbilical artery flow was measured with Doppler ultrasound technique in 206 cases of the uncomplicated pregnancy. Indices A/B and R.I. were calculated. It was shown that vascular resistance in the umbilical artery is decreasing in the normal pregnancy parallel to its development and is manifested by the changes in A/B and R.I. values.

Adult↗