Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000–2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10 323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10 000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10 000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10 000 births, respectively. There were 1 737 RCA cases (17%), giving a prevalence of 7.4/10 000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5–92%) and the prevalence of RCA (range 2.4–12.9/10 000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care

The long-term (1979-2005) effects of the North Atlantic Oscillation on wind-induced wave mixing in Loch Leven (Scotland)

We report on long-term covariation (1979-2005) between indices of the North Atlantic Oscillation (NAO) and wind speed and direction in Loch Leven. The effects of the observed variations in wind speed and direction were combined to produce modelled wave mixed depths (Zc). Positive correlations were observed between seasonal and annual wind speeds, and westerly frequency, and indices of the NAO that are in line with general perception: positive NAO was correlated with stronger, more westerly winds and these effects were strongest in winter and spring. Correlations between NAO and estimates of Zc were strongest in the most westerly exposed site in spring (r2 = 0.701; Zcspring versus spring NAO index). On average, over a 25-year period Zc was deeper in spring and shallower in summer. Major anomalies from the 25-year seasonal means were observed in 1982, 1979, and 1991. Annual average Zc was low in the late 1970s and early 1980s (shallowest average annual Zc of 1.0 m (1984)), high in the late 1980s and early 1990s (deepest average annual Zc of 1.9 m (1990)) and moderate in recent years (up to 2005). This work has major implications for our understanding of potential climate change drivers and the related responses of shallow lake ecosystems, including alterations to littoral habitat quality and benthic-pelagic coupling

The DEAD-box protein p72 regulates ER alpha-/oestrogen-dependent transcription and cell growth, and is associated with improved survival in ER alpha-positive breast cancer

The DEAD-box RNA helicases p68 (DDX5) and p72 (DDX17) have been shown to act as transcriptional co-activators for a diverse range of transcription factors, including estrogen receptor α (ERα). Here, we show that, although both proteins interact with and co-activate ERα in reporter gene assays, siRNA-mediated knockdown of p72, but not p68, results in a significant inhibition of estrogen-dependent transcription of endogenous ERα-responsive genes and estrogen-dependent growth of MCF-7 and ZR75-1 breast cancer cells. Furthermore, immunohistochemical staining of ERα-positive primary breast cancers for p68 and p72 indicate that p72 expression is associated with an increased period of relapse-free and overall survival (p=0.006 and p=0.016 respectively), as well as being inversely associated with Her2 expression (p=0.008). Conversely, p68 shows no association with relapse-free period, or overall, survival but it is associated with an increased expression of Her2 (p=0.001), AIB-1 (p<0.001) and higher tumour grade (p=0.044). Our data thus highlight a crucial role for p72 in ERα co-activation and estrogen-dependent cell growth and provide evidence in support of distinct but important roles for both p68 and p72 in regulating ERα activity in breast cancer