Age-Related Prevalence of Open Ductus Arteriosus in Full-Term Newborns.

BACKGROUND: The ductus arteriosus is part of the fetal circulation. Normally, the vessel closes during the cardiac transition. Delayed closure is associated with complications. The aim of this study was to evaluate the age-related prevalence of open ductus arteriosus in full-term neonates. METHODS: Echocardiograms were collected in the population study, the Copenhagen Baby Heart Study. The present study included full-term neonates with an echocardiogram performed within 28 days after birth. All echocardiograms were reviewed to assess ductus arteriosus patency. RESULTS: A total of 21,649 neonates were included. In neonates examined at day zero and day seven, an open ductus arteriosus was found in 36% and 0.6%, respectively. Beyond day seven, the prevalence remained stable at 0.6%. CONCLUSION: More than one-third of full-term neonates had an open ductus arteriosus on the first day of life, declining rapidly within the first week and stabilizing below 1% after day seven.

Repeatability and Reproducibility of Neonatal Echocardiography: The Copenhagen Baby Heart Study.

BACKGROUND: The Copenhagen Baby Heart Study (CBHS) is a population-based cohort study of neonates (N = 25,000), including echocardiography. Echocardiography in neonates is mainly focused on congenital heart disease (CHD), whereas general aspects of cardiac dimensions and function in neonates without CHD remain to be further addressed. PURPOSE: This study was conducted to assess the reliability of neonatal echocardiography and validity of echocardiographic methods used in the CBHS. METHODS: Reliability and agreement were tested for two-dimensional (2D), M-mode, spectral Doppler, and tissue velocity echocardiography for the following. (1) Measurements: seven sonographers independently performed two measurement rounds: (a) measurement of the same 50 echocardiograms (n = 350 echocardiograms measured) and (b) repeated measurement of 25 of the 50 echocardiograms (n = 175 echocardiograms measured). (2) Acquisition: four sonographers independently performed two rounds of echocardiographic acquisition and subsequent measurement of the same 22 neonates (n = 176 acquisitions and measures). Intra- and interobserver variabilities were assessed by determinations of coefficient of variation (CV), intraclass correlation coefficient (ICC), Bland-Altman plot, and 95% limits of agreement. RESULTS: (1) Measurements: we found intra- and interobserver ICC ≥ 0.67 for 2D parameters, except for left ventricular (LV) wall thicknesses and LV diameter (interobserver); ICC ≥ 0.84 for tricuspid annular plane systolic excursion (TAPSE); ICC ≥ 0.93 for pulsed-wave Doppler (PW); ICC ≥ 0.84 for continuous-wave Doppler; and ICC ≥ 0.87 for tissue velocity parameters. We found CV < 15% for all parameters except LV wall thicknesses. (2) Acquisition: we found intra- and interobserver ICC ≥ 0.69 for 2D parameters, except for LV wall thicknesses, aortic valve annulus (interobserver), and LV end-systolic diameter (interobserver); ICC = 0.45-0.49 for TAPSE; ICC = 0.48-0.64 for PW; and ICC ≥ 0.70 for continuous wave. We found CV < 15% for all parameters. CONCLUSIONS: Reliability of echocardiographic measurements and acquisition of cardiac dimensions and function were good for most parameters but lower for TAPSE (acquisition) and PW Doppler (acquisition) and poor for LV wall thicknesses. In general, echocardiography of cardiac dimensions and function in the neonate is reliable.

CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders.

BACKGROUND: Inuit have lived for thousands of years in an extremely cold environment on a diet dominated by marine-derived fat. To investigate how this selective pressure has affected the genetic regulation of fatty acid metabolism, we assessed 233 serum metabolic phenotypes in a population-based sample of 1570 Greenlanders. METHODS AND RESULTS: Using array-based and targeted genotyping, we found that rs80356779, a p.Pro479Leu variant in CPT1A, was strongly associated with markers of n-3 fatty acid metabolism, including degree of unsaturation (P=1.16×10-34), levels of polyunsaturated fatty acids, n-3 fatty acids, and docosahexaoenic acid relative to total fatty acid levels (P=2.35×10-15, P=4.02×10-19, and P=7.92×10-27). The derived allele (L479) occurred at a frequency of 76.2% in our sample while being absent in most other populations, and we found strong signatures of positive selection at the locus. Furthermore, we found that each copy of L479 reduced height by an average of 2.1 cm (P=1.04×10-9). In exome sequencing data from a sister population, the Nunavik Inuit, we found no other likely causal candidate variant than rs80356779. CONCLUSION: Our study shows that a common CPT1A missense mutation is strongly associated with a range of metabolic phenotypes and reduced height in Greenlanders. These findings are important from a public health perspective and highlight the usefulness of complex trait genetic studies in isolated populations.

Effect of the 13-valent pneumococcal conjugate vaccine on nasopharyngeal carriage by respiratory pathogens among Greenlandic children.

BACKGROUND: In 2010, Greenland introduced the 13-valent pneumococcal conjugate vaccine (Prevnar 13®- PCV-13) in the childhood immunisation program. The authors aimed to evaluate the impact of PCV-13 on nasopharyngeal carriage of bacteria frequently associated with respiratory infections in children. METHOD: In 2013 a cross-sectional population-based study of nasopharyngeal carriage was conducted among Greenlandic children aged 0-6 years and results were compared with an equivalent study from 2011. Nasopharyngeal swab samples were tested for Streptococcus pneumoniae, non-typeable Haemophilus influenzae, Moraxella catarrhalis and Staphylococcus aureus. Pneumococcal serotyping was performed by Quellung reaction and serotype-specific antisera. Statistical analysis included logistic regression models, adjusting for known risk factors. RESULT: A total of 377 nasopharyngeal samples were collected. Overall carriage rate of S. pneumoniae remained unchanged from 2011 to 2013 (51% and 56%, p=0.13), but significant serotype shifts were observed among both vaccinated and unvaccinated children with marked reductions in carriage of vaccine-type pneumococci, counterbalanced by increasing carriage of non-vaccine types. Carriage rate of S. aureus decreased significantly among vaccinated children whereas that of M. catarrhalis increased. CONCLUSION: PCV-13 introduction in Greenland is associated with significant changes in nasopharyngeal bacterial carriage. Continued surveillance is warranted to clarify whether these changes are persistent, and affect the pattern of respiratory and invasive diseases in Greenland.

[Activation of psoriasis in patients undergoing treatment with interferon-beta]. / Aktivering af psoriasis hos patienter i interferon-beta-behandling.

Psoriasis is a chronic, inflammatory skin disorder that is induced and aggravated by a number of endogenous and exogenous factors. Traditionally lithium, beta blockers, NSAIDs, ACE inhibitors and antimalarials have been associated with psoriasis, but interferon can also be a triggering factor. We present two patients with multiple sclerosis who suffered from activation of psoriasis in relation to interferon-beta treatment. In one of the patients, psoriasiform injection site lesions persisted six years after termination of the interferon treatment.