Abstract-Congenital heart disease (CHD), comprising structural or functional abnormalities present at birth, is the most common birth defect in humans. Reduced expression of connexin40 (Cx40) has been found in association with atrial fibrillation, and deletion of Cx40 in a mouse model causes various structural heart abnormalities in 18% of heterozygotes. We screened 505 unrelated CHD cases for deletions or duplications of the Cx40 gene (GJA5) by real-time quantitative PCR, in order to determine whether altered copy number of this gene may be associated with a cardiac phenotype in humans. Dosage of Cx40 flanking genes (ACPL1 and Cx50 gene, GJA8) was determined by real-time PCR for all apparent positive cases. In total, 3 cases were found to carry deletions on chromosome 1q21.1 spanning ACPL1, Cx40, and Cx50 genes. Absence of heterozygosity was observed in all 3 index cases over a 1.5-to 3-Mb region. Samples from the parents of two cases were obtained, and microsatellites across 1q21.1 were genotyped. One of the apparently unaffected parents was found to carry this deletion. All 3 index cases presented with obstruction of the aortic arch as the common structural cardiac malformation, and had no consistent dysmorphic features. Genotyping of 520 unrelated normal controls for this deletion was negative. We hypothesize that this 1q21.1 multigene deletion is associated with a range of cardiac defects, with anomalies of the aortic arch being a particular feature.

No abstract

Cellulite is a complex condition, and treatments such as weight loss have variable effects on the improvement or worsening of this condition. Additional studies are required to understand how the factors that influence and modulate cellulite severity, particularly those at the level of the subcutaneous tissue septa, can be manipulated to improve this condition.

Common risk factors for different alcohol consumption patterns are unintended pregnancy and substance use behaviors prior to pregnancy. Other risk factors were specific to the different patterns. Targeted strategies that address the needs of alcohol or nicotine using women and that can reduce the risk of unintended pregnancy may be beneficial.

Sulfide accumulation due to bacterial sulfate reduction is responsible for a number of serious problems in the oil industry. Among the strategies to control the activity of sulfate-reducing bacteria (SRB) is the use of nitrate, which can exhibit a variety of effects. We investigated the relevance of this approach to souring oil fields in Oklahoma and Alberta in which water flooding is used to enhance oil recovery. SRB and nitrate-reducing bacteria (NRB) were enumerated in produced waters from both oil fields. In the Oklahoma field, the rates of sulfate reduction ranged from 0.05 to 0.16 microM S day(-1) at the wellheads, and an order of magnitude higher at the oil-water separator. Sulfide production was greatest in the water storage tanks in the Alberta field. Microbial counts alone did not accurately reflect the potential for microbial activities. The majority of the sulfide production appeared to occur after the oil was pumped aboveground, rather than in the reservoir. Laboratory experiments showed that adding 5 and 10 mM nitrate to produced waters from the Oklahoma and Alberta oil fields, respectively, decreased the sulfide content to negligible levels and increased the numbers of NRB. This work suggests that sulfate reduction control measures can be concentrated on aboveground facilities, which will decrease the amount of sulfide reinjected into reservoirs during the disposal of oil field production waters.

No abstract

No abstract

BackgroundDevelopmental and language outcomes at 2 years of age of children who had arterial switch operation (ASO) for transposition of the great arteries 2004–2010 are described.MethodsIn this prospective cohort study, 91/98 (93 %) children who underwent ASO were assessed at 2 years of age with the Bayley Scales of Infant & Toddler Development—3rd Edition. Outcomes were compared by patient and perioperative variables using bivariate and multivariate regression analyses to identify predictors of language delay.ResultsInfants without ventricular septal defect (VSD) (n = 60) were more likely to be outborn (73 vs 58 %, p = 0.038), require septostomy (80 vs 58 %, p = 0.026), have a shorter cross clamp time (min) (62.7 vs 73.0, p = 0.019), and a lower day 1 post-operative plasma lactate (mmol/L) (3.9 vs 4.8, p = 0.010). There were no differences in cognitive, motor and language outcomes based on presence of a VSD. Language delay (<85) of 29 % was 1.8 times higher than the normative sample; risk factors for this in multivariate analyses included <12 years of maternal education (AOR 19.3, 95 % CI 2.5–148.0) and cross-clamp time ≥70 min (AOR 14.5, 95 % CI 3.1–68.5). Maternal education <12 years was associated with lower Language Composite Scores (−20.2, 95 % CI −32.3 to −9.1).ConclusionsOutcomes at 2 years of age in children who undergo ASO are comparable to the normative sample with the exception of language. There is a risk of language delay for which maternal education and cross-clamp duration are predictors. These findings suggest that focused post-operative early language interventions could be considered.