Airi Rakkolainen

VITA Laboratory, Helsinki, Finland

Oral-facial-digital syndrome type 1 (OFD1, MIM 311200) was first described by Papillon-Leage and Psaume1 in 1954 and further delineated in 1962 by Gorlin and Psaume,2 who called it orodigitofacial dysostosis. It is a multiple congenital anomaly syndrome characterised by malformations of the face, oral cavity, and hands and feet. The facial dysmorph...

This critical review questions the present understanding in monitoring of analytical quality control in neonatal screening. Current status and historical background of the analytical quality control, particularly of the tests intended for the screening of congenital hypothyroidism and some inborn errors of metabolism, is reviewed. The reasons why a...

This short communication compares a novel fluorimetric microplate enzyme immunoassay (FEIA) with a commercial time-resolved fluoroimmunoassay for the determination of thyrotropin in dried blood spots. The evaluation was performed using a retrospective study design with newborn blood samples from three screening centres. Non-parametric Spearman rank...

We describe a novel method for the detection of thyrotropin from dried blood spots using a horseradish peroxidase-labelled sandwich enzyme immunoassay with fluorometric detection. The detection limit of the present assay is 1.25 mIU/l with within-run and between-run imprecision being in the range 5.2 to 11.4%. The results of the assay correlate wel...

The application of 3-p-hydroxyphenylpropionic acid (HPPA), a fluorogenic substrate of horseradish peroxidase (HRP) to an automated microplate fluorometric enzyme immunoassay is described. Fluorescence intensity of the end product was highly dependent on the pH of the buffer and on the concentrations of the substrate mixture ingredients. The determi...