Biomedical subjects
Publications and source records attributed to T Pop.
The authors present a family in which the father has brachymetacarpy and brachymetatarsy and the mother has a 13/20 translocation. A baby was born with multiple malformations similar to the trisomy syndrome for the short arms of chromosome 20. The genetic consequences of the translocation are discussed.
The carcino-embrionary antigen was estimated in 26 patients without malignant diseases (15 with inguinal hernia and 11 with urinary lithiasis--all of them before surgery), and in 47 patients with urothelial tumors. The direct radioimmune technique was used (a commercial kit from France /CEA IRE SORIN/) applied to isolated samples of sterile urine obtained at 12 hours. It was noted that:--patients without urologic disturbances had values under 1.5 micrograms in 12 hours in 93.4% of the cases;--in 44% of patients with non-malignant urological diseases (urinary lithiasis) the antigen values ranged between 1.5 and 3.0 micrograms in 12 hours;--patients with urothelial tumors had high values of the urinary carcinoembrionary antigen, in the range between 1.92 and 162.5 micrograms;--concentration of the urinary carcino-embionary antigen increases with the stage of the disease, with tumor polyploidia and in tumors with a high degree of anaplasia;--10--14 days after the removal of the tumor the values of the carcino-embrionary antigen show a significant decrease, even after total cystectomy but with cutaneous uretherostomy.
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A 46, XY/46, XY 18 p-mosaic was encountered in a child with cranio-facial dysmorphia, anomalies of the fingers, metaphyseal and epiphyseal dysgenesis, psycho-motor backwardness, anomalies of EEG and convulsions.
The plasma volume (PV) was determined in 109 patients with chronic arterial hypertension (AH) by 131I-labeled serumalbumin, expressing the results in ml/cm body height. An attempt was made to establish a statistical correlation between PV and diastolic pressure (DP). In essential AH three types of PV were found: normal, hypovolemic and hypervolemic; in hypertensive patients with stenosis of the renal aorta and in those with pheochromocytoma PV was slightly diminished; in hyperaldosteronism it was increased. In AH due to renal parenchymatous lesions the mean PV values were normal, a positive correlation being found between PV and DP (r + 0.929 and p = 0.05) in contrast to the other types of AH, where r was non significant or negative (stenosis of the renal artery, pheochromocytoma, malignant AH).