[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.].

Galician newborn screening program for early detection of endocrine and metabolic diseases began in 1978 and was a pioneer in expanded newborn screening in Spain with the incorporation of mass spectrometry in July 2000. As a primary objective, 28 diseases are screened, including those recommended SNS except sickle cell anemia which is in the inclusion phase. In its 20-year history, 404,616 newborns (nb) have been analyzed, identifying 547 cases affected by the diseases included, with a global incidence of 1: 739 newborns and 1: 1.

Cyanotoxin level prediction in a reservoir using gradient boosted regression trees: a case study.

Cyanotoxins are a type of cyanobacteria that is poisonous and poses a health threat in waters that could be used for drinking or recreational purposes. Thus, it is necessary to predict their presence to avoid risks. This paper presents a nonparametric machine learning approach using a gradient boosted regression tree model (GBRT) for prediction of cyanotoxin contents from cyanobacterial concentrations determined experimentally in a reservoir located in the north of Spain.

Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening.

The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some time, but has not hitherto been exploited for primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determination of the product of reaction between urinary pregnanetriolone and phosphoric acid.

Copper nanowires immobilized on the boards of microfluidic chips for the rapid and simultaneous diagnosis of galactosemia diseases in newborn urine samples.

Galactosemia is a rare disease that is diagnosed through the identification of different metabolite profiles. Therefore, the specific detection of galactose 1-phosphate (Gal 1-P), galactose (Gal), and uridyl diphosphate galactose (UDP-Gal) confirms type I, II, and III galactosemia diseases. Because of the low prevalence of galactosemia, sample availability is very scarce and screening methods to diagnose the illness are not commonly employed around the world.

Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.

We report a case of congenital hypothyroidism (CH) with neurological and respiratory alterations due to a heterozygotic c.374-1G > A mutation of TITF1/NKX2-1. The hypothyroidism was detected using a neonatal screening protocol in which the thyroid stimulating hormone (TSH) threshold is re-set each day on the basis of within-day variability and between-day variation.