Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia

Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.     

Functional adaptation: the key to plasticity of cardiovascular "stem" cells?

There is increasing evidence that cells of disparate phenotypes displaying various degrees of proliferative capacity engraft and function heterotopically in adult organisms. Efforts were made to reconcile these findings with the embryologic notions of pluripotent stem or progenitor cell, although the nature of the 'stemness' remained elusive. This topic is particularly important for the cardiovascular system, in which cytotrophoblasts, certain tumor cells, monocytes/macrophages, peritoneal mesothelial cells, and others acquire endothelial properties and/or perform endothelial functions. Here we suggest that this pluripotency reflects a fundamental characteristic of cellular diversity, which is manifested as the adaptive response to a functional pressure exerted by the cell's biochemical and biophysical microenvironments that would drive their differentiation. In this model, differentiation is a dynamic, reversible, and open-ended process where the cells would maintain the flexibility to respond to changing environmental clues with a fine tuning of their structure, a property that was previously called cellular plasticity. Pluripotent adult stem cells that display this property in culture, and, perhaps upon in vivo administration, were described. Therefore, we also suggest that differentiation of stem cells is a form of cellular plasticity within the larger context of functional adaptation, whereas their stemness remains associated with self-renewal.     

A Different Kind of Christmas Tree: Anomalous Origin of the Right Coronary Artery from the Pulmonary Artery (ARCAPA)

Anomalous right coronary artery from the pulmonary artery (ARCAPA) is a rare congenital coronary anomaly that has an incidence of 0.002%. We report a case of a previously healthy female who presented to our hospital with pneumonia and was incidentally discovered to have ARCAPA. This was initially diagnosed on echocardiography by the unusual echocardiographic finding of multiple color flow Doppler signals around the right ventricular free wall and apex which were subsequently confirmed by angiography to be due to extensive collateral circulation between the left and right coronary arteries. This represents an unusual echocardiographic manifestation of this very rare condition.     

Social support as a predictor exhaled nitric oxide in healthy individuals across time

Psychosocial factors such as social support and depression have long been associated with health outcomes. Elevated depressive symptoms are usually associated with worse health outcomes, whereas social support has been related to improvements in health. Nitric oxide levels are an important marker of both cardiovascular health and immune function. Research suggests that exhaled nitric oxide is affected by stress, negative affect, and depression; however, the effect of social support has not been previously explored. Thus, we sought to examine the association of social support, negative affect, and depression with exhaled nitric oxide in a group of 35 healthy individuals (10 males and 25 females) with a mean age of 20.5 years across five weekly assessments. Results showed that changes in social support within individuals were positively associated with levels of exhaled nitric oxide independent of other psychosocial factors. Further exploration of the health implications of this positive relationship between airway nitric oxide and social support is necessary.     

Why search for a sperm donor online? The experiences of women searching for and contacting sperm donors on the internet

Whilst studies have examined the experiences of women who use clinic donors, to date there has been limited research investigating women’s motivations and experiences of searching for a sperm donor online. A total of 429 women looking for a sperm donor on Pride Angel (a website that facilitates contact between donors and recipients) completed an online survey. Fifty-eight percent (249) saw advantages of obtaining donated sperm online with the most common advantage reported as being able to connect with and meet the donor (n?=?50 (24%)). A third (n?=?157 (37%)) of the participants gave disadvantages, the most common reported was encountering ‘dishonest donors’ (n?=?63 (40%)). Most recipients (n?=?181 (61%)) wanted the donor to be ‘just a donor’ (i.e. to provide sperm and have no further contact). Whilst it was important for recipients to know the identity of the donor, some did not see this as important for the child and thus the level of information that parents have about the donor, and that which the child has, can differ. Finding a donor online blurs the distinction between categories of ‘anonymous’, ‘known’ and ‘identity release’ donations. Whilst the survey had a large sample size, the representativeness of the sample is not known.     

Germanium quantum dot/nitrogen-doped graphene nanocomposite for high-performance bulk heterojunction solar cells

This study presents the successful synthesis of a novel nanocomposite, namely a germanium quantum dot/nitrogen-doped graphene nanocomposite (GeQD/NGr), and its use in the modification of the photoactive medium of bulk heterojunction solar cells (BHJ-SCs). The nanocomposite was prepared in two sequential steps. Firstly, a reduced graphene oxide-germanium oxide nanocomposite (rGO-GeO₂) was synthesized by microwave-assisted solvothermal reaction. The second step involved simultaneous N-doping of graphene and reduction of GeO₂ to obtain the GeQD/NGr nanocomposite by thermal treatment. The nanocomposite consists of highly crystalline, spherical shaped GeQDs with a mean diameter of 4.4 nm affixed on the basal planes of NGr sheets. Poly-3-hexylthiophene (P3HT), (6-6)phenyl-C60-butyric acid methyl ester (PCBM) and GeQD/NGr were used as the photoactive layer blend in the fabrication of BHJ-SCs. Enhanced short-circuit current density (J_sc) and fill factor (FF) is derived from the incorporation of the GeQD/NGr nanocomposite in the active layer. The nanocomposite in the active layer blend serves to ensure effective charge separation and transportation to the respective electrodes. Consequently, an improvement of up to 183% in the power conversion efficiency is achieved in the BHJ-SCs by the GeQD/NGr modification.

Germanium quantum dot/nitrogen-doped graphene, a novel nanocomposite, is successfully synthesized and utilized in the photoactive medium of organic solar cells.     

Socially marketed insecticide-treated nets improve malaria and anaemia in pregnancy in southern Tanzania

OBJECTIVES: To study the uptake of socially marketed insecticide-treated nets (ITNs) and their impact on malaria and anaemia in pregnancy; and to report on a discount voucher system which aimed to increase coverage in pregnancy. METHODS: A 12-month cross-sectional study of women in the second or third trimester of pregnancy. ITN use and other factors were assessed by questionnaire and a blood sample taken for malaria parasitaemia and anaemia. 'Non-users' of ITNs included both women not using any net and women using untreated nets. RESULTS: Fifty three per cent of pregnant women used ITNs. Women aged 15-19, primigravidae, unmarried women, and those with no access to cash had the lowest ITN use. Fewer ITN users were positive for malaria than ITN non-users (25 vs. 33%: P=0.06), and the protective efficacy (PE) for parasitaemia was 23% (CI 2-41). Multiparous ITN users had a twofold decrease in parasite density compared with multiparous non-ITN users (625 parasites/microl vs. 1173 parasited/microl: P=0.01). Fewer ITN users were anaemic (Hb < 11 g/dl) than ITN non-users (72 vs. 82%: P=0.01). ITNs had a PE of 12% (CI 2-21) against mild anaemia and a PE of 38% (CI 4-60) against severe anaemia (Hb < 8 g/dl). There was a trend in the prevalence of severe, mild and no anaemia, and of high density, low density and no malaria infection by ITN status. Recently treated nets were most effective at preventing malaria and anaemia (prevalence of mild anaemia was 68% compared with 82% for those without nets (P=0.002); prevalence of malaria was 22% compared with 33% for those without nets (P=0.02). Knowledge and reported use of the discount voucher system were low. Further qualitative research is ongoing. CONCLUSIONS: A modest impact of ITNs on pregnancy malaria and anaemia was shown in our high malaria transmission setting. The development of ITN programmes for malaria control should include pregnant women as a specific target group.