Adiponectin levels measured in dried blood spot samples from neonates born small and appropriate for gestational age.

OBJECTIVE: Adiponectin levels measured in neonatal dried blood spot samples (DBSS) might be affected by both prematurity and being born small for gestational age (SGA). The aim of the study was to measure adiponectin levels in routinely collected neonatal DBSS taken on day 5 (range 3-12) postnatal from infants. DESIGN: A retrospective case-control study. SUBJECTS AND METHODS: One hundred and twenty-two infants: 62 very premature (34 SGA) and 60 mature infants (27 SGA). Adiponectin concentrations were determined in stored neonatal DBSS using a sandwich immunoassay based on flow metric Luminex xMap technology. RESULTS: Adiponectin was measurable in all samples, and repeated measurements correlated significantly (r = 0.94). Adiponectin concentrations were negatively associated with both SGA (B = -0.283, P = 0.04) and prematurity (B = -2.194, P < 0.001), independently of each other. In the premature but not the mature group, adiponectin levels increased with increasing postnatal age at blood sampling (B = 0.175, P < 0.001). CONCLUSIONS: Reliable quantification of adiponectin in stored DBSS is feasible and may be used to study large populations of routinely collected samples. Low levels of adiponectin in neonatal DBSS are associated with SGA as well as prematurity. Blood adiponectin levels increase with postnatal age in premature infants, suggesting a rapid yet unexplained metabolic adaptation to premature extrauterine life.

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

Carnitine transporter deficiency (CTD) and holocarboxylase synthetase deficiency (HLCSD) are frequent in The Faroe Islands compared to other areas, and treatment is available for both disorders. In order to evaluate the feasibility of neonatal screening in The Faroe Islands we studied detection in the neonatal period by tandem mass spectrometry, carrier frequencies, clinical manifestations, and effect of treatment of CTD and HLCSD. We found 11 patients with CTD from five families and 8 patients with HLCSD from five families. The natural history of both disorders varied extensively among patients, ranging from patients who presumably had died from their disease to asymptomatic individuals. All symptomatic patients responded favourably to supplementation with L: -carnitine (in case of CTD) or biotin (in case of HLCSD), but only if treated early. Estimates of carrier frequency of about 1:20 for both disorders indicate that some enzyme-deficient individuals remain undiagnosed. Prospective and retrospective tandem mass spectrometry (MS/MS) analyses of carnitines from neonatally obtained filter-paper dried blood-spot samples (DBSS) uncovered 8 of 10 individuals with CTD when using both C(0) and C(2) as markers (current algorithm) and 10 of 10 when using only C(0) as marker. MS/MS analysis uncovered 5 of 6 patient with HLCSD. This is the first study to report successful neonatal MS/MS analysis for the diagnosis of HLCSD. We conclude that CTD and HLCSD are relatively frequent in The Faroe Islands and are associated with variable clinical manifestations, and that diagnosis by neonatal screening followed by early therapy will secure a good outcome.

Incidence of the apolipoprotein B-3500 mutation in Denmark.

A total of 5000 consecutively samples newborn screening cards were anonymously selected for screening for the apolipoprotein B-3500 (apo B-3500) mutation, which causes familial defective apolipoprotein B-100 (FDB). The mutation was found in 5 of 5000 Danish children, of whom 2 were twins. This indicates a lower prevalence of this mutation in Danes than that reported in the UK, Germany, USA, Austria, Canada and especially Switzerland. Haplotype studies suggest that Caucasian subjects with the apo B-3500 mutation have a common founder. The apparently lower prevalence in Denmark than in Switzerland and Central Europe may indicate that the mutation was brought from these areas to Denmark after the initial settling of Denmark. In 101 unrelated Danish subjects with familial hypercholesterolemia, diagnosed on clinical and biochemical criteria including tendon xanthomata, 2 were heterozygous for the apo B-3500 mutation (2%).

[Do pregnant women need supplementation of folic acid?]. / Behøver gravide tilskud af folinsyre?

Neutral tube defects (NTDs) occur at an incidence of about 0.01 per cent, and in Denmark 40-50 new cases are recorded annually. Although the metabolism of folic acid increases during pregnancy, the dietary supply is marginal. Finding in recent studies suggest that folic acid supplementation as prophylactic treatment of gravidae reduces the incidence of NTDs. Folic acid prophylaxis is already being recommended as a general policy, with treatment starting before conception.