Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.

The aryl hydrocarbon receptor interacting protein (AIP) founder mutation R304 (or p.R304 ; NM_003977.3:c.

The prevalence of alpha-1 antitrypsin deficiency in Ireland.

Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.

Folic acid fortification and public health: report on threshold doses above which unmetabolised folic acid appear in serum.

Background: All flour in the USA is fortified with folic acid at a level of 140 microg/100 g which is estimated to supply an extra 100 microg daily to the average diet. Some researchers have advocated that this be increased to double and even four times this amount. Based on previous research these higher levels are likely to lead to the appearance of unmetabolised vitamin in the circulation, which may have safety implications for sub-groups of the population.

The rate of intestinal absorption of natural food folates is not related to the extent of folate conjugation.

Background: Evidence is conflicting as to whether the bioavailability of food folates is influenced by the extent of their conjugation.

Objective: The objective was to compare the bioavailability of 3 representative food folate sources with various degrees of glutamylation-ie, egg yolk, spinach, and yeast, whose polyglutamyl folate content measured 0%, 50%, and 100%, respectively.

Design: In a randomized crossover trial, 13 male subjects, after a prestudy folate saturation procedure, received in random order either placebo or 500 mug total folate, which was provided as concentrated freeze-dried extract removed from the normal food matrix of egg yolk, spinach, or yeast.