Association between carrier screening and incidence of cystic fibrosis

Context A downward trend in cystic fibrosis (CF) birth incidence has been reported in some areas. Objective To evaluate the association between carrier screening and CF birth incidence. Design, Setting, and Participants In northeastern Italy, CF birth incidence is monitored by means of a long-standing neonatal screening program. In the same area, 2 sections using different carrier detection approaches were identified—the western region, in which CF carrier tests are offered only to relatives of patients or to couples planning in vitro fertilization; and the eastern region, in which carrier testing is offered to relatives and carrier screening to infertile couples and to couples of reproductive age. A total of 779 631 newborns underwent CF neonatal screening between January 1993 and December 2007, of whom 195 had CF detected. Main Outcome Measure Cystic fibrosis birth incidence in the 2 regions. Results A time-related decrease in birth incidence was found, with a mean annual percentage decrease of 0.16 per 10 000 neonates (P < .001). In the western region, 2559 carrier tests were performed, 314 carriers were identified, and 9 carrier couples were detected. In the eastern region, 87 025 carrier tests were performed, 3650 carriers were identified, and 82 carrier couples were detected. The birth rate decrease was greater in the eastern region (decrease rate, 0.24; 95% confidence interval [CI], 0.12-0.36) than in the western region (decrease rate, 0.04; 95% CI, –0.16 to 0.08; P = .01). The increase in the number of screened carriers over time was significantly correlated with the decrease in CF birth incidence (correlation coefficient = −0.53; 95% CI, –0.20 to –0.74; P = .003). Conclusion In northeastern Italy, carrier screening was associated with a decrease in the incidence of CF

The DNSev™ expert system in the auto-verification of tumour markers and hormones results

Most of the immunoassays workload is processed in clinical laboratories within a time span comparable to the clinical chemistry and the haematology assays and the analytical work is usually completed between 1:00 and 2:00 p.m. In order to accelerate the auto-verification of the results of tumour markers (Total and free PSA, CEA, CA 125, CA 15-3, CA 19-9, TPA, AFP, NSE, S 100 protein), and hormones (TSH, FT4, FT3, Prolactin, total testosterone) and Procalcitonin (PCT) we used DNSevTM expert system implementing 13 rules based on decision levels/reference intervals and reference change values. The auto-verification procedure has been implemented after a 6-month trial in June 2004 and in 2005 the immunoassays section supervisor was able to verify about 500 results in about 30 min 5 days/week. We conclude that the auto-verification of immunoassays implemented in our laboratory is fast and consistent among different supervisors and leaves more time for an effective and timely interaction with clinicians and general practitioner

Association between carrier screening and incidence of cystic fibrosis

Context A downward trend in cystic fibrosis (CF) birth incidence has been reported in some areas. Objective To evaluate the association between carrier screening and CF birth incidence. Design, Setting, and Participants In northeastern Italy, CF birth incidence is monitored by means of a long-standing neonatal screening program. In the same area, 2 sections using different carrier detection approaches were identified-the western region, in which CF carrier tests are offered only to relatives of patients or to couples planning in vitro fertilization; and the eastern region, in which carrier testing is offered to relatives and carrier screening to infertile couples and to couples of reproductive age. A total of 779 631 newborns underwent CF neonatal screening between January 1993 and December 2007, of whom 195 had CF detected. Main Outcome Measure Cystic fibrosis birth incidence in the 2 regions. Results A time-related decrease in birth incidence was found, with a mean annual percentage decrease of 0.16 per 10 000 neonates (P < .001). In the western region, 2559 carrier tests were performed, 314 carriers were identified, and 9 carrier couples were detected. In the eastern region, 87 025 carrier tests were performed, 3650 carriers were identified, and 82 carrier couples were detected. The birth rate decrease was greater in the eastern region (decrease rate, 0.24; 95% confidence interval [CI], 0.12-0.36) than in the western region (decrease rate, 0.04; 95% CI, -0.16 to 0.08; P = .01). The increase in the number of screened carriers over time was significantly correlated with the decrease in CF birth incidence (correlation coefficient=-0.53; 95% CI, -0.20 to -0.74; P = .003). Conclusion In northeastern Italy, carrier screening was associated with a decrease in the incidence of CF

Transfer hydrogenation of acetophenone catalyzed by half-sandwich ruthenium(II) complexes containing amino amide ligands. Detection of the catalytic intermediates by electrospray ionization mass spectrometry

A series of natural amino acid (alanina, valina, phenylalanine and isoleucine) amides have been synthesized and fully characterized. They have been used as supporting ligands in the Ru(II) catalyzed asymmetric transfer hydrogenation (ath) of acetophenone in the presence of i-PrOH/KOH. Secondary amides impart high reactivity to the corresponding Ru(II) complexes, with TOFs up to 1680 h-1 and ees up to 47%. The amino acid and the substituents of the amide nitrogen govern the activity and the enantioselectivity of the catalytic processes. The pre-catalysts obtained by reacting (L)-phenylalanine p-anisidineamide and (L)-valine o-anisidineamide with [Ru(p-cymene)Cl2]2 have been isolated and characterized as the half-sandwich complexes [(η6-p-cymene)Ru(κ2-N,N′-aminoamidato)Cl] (10 and 11, respectively). An ESI-MS study conducted on the acetophenone reduction catalyzed by 11 has led to the detection of the organometallic intermediates involved in the catalytic cycle: the pre-catalyst 11, the 16e--complex [(η6-p-cymene)Ru(κ2-N,N′-diamide)] 12 and the hydride [(η6-p-cymene)Ru(κ2-N,N′-aminoamidato)H] 13