[The significance of screening tests for aneuploidies in populations at low and high maternal-age-related risk]. / Il significato dei test di screening per le aneuploidie in popolazione a basso e alto rischio per età.

AIM: The aim of this study was to evaluate the validity of the triple test and the screen test in maternal populations at low and high maternal-age-related risk for fetal aneuploidy. METHODS: As a whole, 9,680 pregnant women at low risk and 627 at high risk underwent the triple test; 2,780 pregnant women at low risk and 408 at high risk underwent the screen or combined test; sensitivity, specificity, false positives and detection rate were compared between populations using Student's t-test. RESULTS: The triple test showed a detection rate of 75% in the low and 83.3% in the high risk population with a difference (P<0.003) for detection of trisomies 21 and 18 between the 2 populations; the screen test had a detection rates of 100% and 90% in the 2 populations, respectively, with a difference (P<0.005) between the 2 tests. CONCLUSIONS: Both tests are reliable for screening aneuploidies in the low risk population, the screen test having better performance; in the high risk population, the number of invasive procedures can be reduced by 78% with the triple test and by 84% with the screen test.

Hormonal and clinical effects of GnRH agonist alone, or in combination with a combined oral contraceptive or flutamide in women with severe hirsutism.

The objective of this prospective randomized study was to evaluate and compare the hormonal and clinical effects of long-acting gonadotropin-releasing hormone (GnRH) agonist and a combination of GnRH agonist with combined oral contraceptive (COC) or flutamide in women with polycystic ovary syndrome (PCOS). Thirty-five hirsute women with PCOS, ranging in age from 19-27 years, were randomly divided into three groups: group A treated with GnRH agonist (n = 12), group B (n = 12) treated with GnRH agonist plus COC and group C (n = 11) treated with GnRH agonist plus flutamide for 6 months. Before, at the end and 6 months after the end of treatment, blood samples were drawn from all women (in early follicular phase in those with menstrual cycles) to measure ovarian and adrenal androgens, gonadotropins luteinizing hormone (LH) and follicle-stimulating hormone (FSH), estradiol and estrone plasma levels. The results showed that all three protocols had good therapeutic efficacy. A significant reduction in hirsutism was observed in all patients after 6 months of therapy, the Ferriman-Gallwey scores dropping to 9 +/- 3 in group A, 10 +/- 4 in group B and 11 +/- 5 in group C. Six months after the end of therapy, the hirsutism score continued to be significantly reduced in all groups. After 6 months of therapy, a reduction in plasma levels of LH, FSH, estrone, estradiol, testosterone, free testosterone, androstenedione and dehydroepiandrosterone sulfate (DHEAS) was observed in all groups although this was more pronounced in group B and group C. These therapies may be the basis of future treatments that quickly reduce hirsutism and remove its causes by reducing the secretion of ovarian and adrenal androgens and by blocking androgen receptors.

Hypothalamo-pituitary-adrenal axis and adrenal function before and after ovariectomy in premenopausal women.

The hypothalamo-pituitary-adrenal (HPA) axis is modulated by sex hormones. Few data exist on the relation between acute estrogen deficit and HPA axis response to corticotropin-releasing hormone (CRH). The effects of a sudden drop in estradiol levels on basal and CRH-stimulated levels of ACTH, cortisol, testosterone, androstenedione and 17-hydroxyprogesterone (17-OHP) were assessed in nine premenopausal women (44-48 years of age), before and after ovariectomy. The CRH test was performed before and 8 days after ovariectomy. A significant reduction in ACTH and adrenal steroids but not in cortisol response to CRH was observed after ovariectomy. The ratio of deltamax androstenedione/17-OHP after CRH stimulation was substantially the same before and after ovariectomy, whereas deltamax 17-OHP/cortisol was significantly lower in ovariectomized women showing increased 21- and 11beta-hydroxylase activity. The results show that the acute estrogen deficit induces changes in the HPA axis characterized by reduced stimulated secretion of ACTH and steroids but normal stimulated cortisol production.

Changes in erythrocyte properties during the first hours of life: electron spin resonance of reacting sulfydryl groups.

In an attempt to clarify the mechanism by which the red cells (RBC) of newborn infants are protected against oxidative agents, electron spin resonance (ESR) assays were carried out using the nitroxide radical 4-maleimide-2,2,6,6-tetramethylpiperidinyl-1-oxyl (Mal-6), a sulfydryl-reacting agent. The ESR assays were performed in 24 samples of cord blood, 20 samples of blood from 4-day-old infants, and eight samples of 8-h-old infants. The analyses were carried out on whole blood and washed erythrocytes were resuspended in buffered saline. The same experiments were performed in 10 blood samples from healthy adults as controls. Whole blood, before and after removing the buffy coat, and cell-free plasma were also examined by ESR assay. Cell-free plasma and buffy coats proved not to be appreciably involved in the Mal-6 behavior. The data of the ESR spectroscopy demonstrated a significantly slower reaction rate in the samples of cord blood and in blood of 8-h-old infants, compared to that of 4-day-old infants and adults. No significant differences in Mal-6 behavior could be detected between cord blood and 4-day-old infant blood in the results of ESR assays performed in washed red cells. Chemical determination of RBC-reacting sulfydryl groups and the assays of glutathione also demonstrated the absence of differences between cord blood and blood of 4-day-old infants. The results of our investigation suggest that the RBC-sulfydryl-reacting groups are less involved in the detoxification of oxidative agents during the first hours of life than in the following days.(ABSTRACT TRUNCATED AT 250 WORDS)

Neonatal hyperbilirubinemia. Evidence for a role of the erythrocyte enzyme activities involved in the detoxification of oxygen radicals.

Determinations of erythrocyte enzyme scavengers of oxygen radicals (glutathione-peroxidase, superoxide-dismutase and catalase) and determinations of erythrocyte age-dependent glycolytic activities (glucose-6-phosphate-dehydrogenase, pyruvate-kinase and glucose-phosphate-isomerase) were carried out in cord blood and in the blood taken on the 4th day of life in 152 newborn infants with different peak bilirubin levels. The enzyme activities scavenging oxygen radicals, glutathione-peroxidase and superoxide-dismutase were significantly lower in infants with peak bilirubinemia higher than 214 mumol/l, compared to less-jaundiced neonates, both at birth and on the 4th day of life; their values correlated negatively with peak bilirubinemia at birth and on the 4th day of life. Glycolytic age-dependent enzyme activities were significantly higher in more jaundiced newborn infants only on the 4th day of life, when their values correlated positively with peak bilirubinemia. The results of this investigation suggest that a deficiency of factors protecting from oxygen toxicity, may play a role in the development of neonatal hemolysis and jaundice.