Expanding multiple marker screening for Down's syndrome to include Edward'S syndrome

Information on maternal age and maternal serum alpha-fetoprotein, unconjugated oestriol (uE₃), and human chorionic gonadotrophin (hCG) levels was used to investigate retrospectively the effect of estimating Edward's syndrome risk in women having multi-marker screening for Down's syndrome. The screened population comprised 15 pregnancies affected by Edward's syndrome, 15 with Down's syndrome and 5472 unaffected pregnancies. The use of all three markers to estimate Edward's syndrome risk would have led to the detection of 10–12 (67–80 per cent) cases with a false-positive rate of 0.3–0.6 per cent depending on the risk cut-off. A further case would have been detected as a result of screening for Down's syndrome alone. Similar results were obtained when the Edward's syndrome risk was based on uE₃ and hCG only. These data suggest that extending Down's syndrome screening to include Edward's syndrome risk will yield a high detection rate with only a small increase in the false-positive rate.     

Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism

Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.     

Serum PAPP-A measurements in first-trimester screening for Down syndrome

Serum PAPP-A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP-A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP-A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP-A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP-A level below 0.3 MOM (approximately 6.5 per cent of this at-risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP-A should continue to be investigated as a potential first-trimester screening test for Down syndrome.     

Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy

Chondroectodermal dysplasia (Ellis-van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis-van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non-invasive prenatal diagnosis of the syndrome is discussed.     

First-trimester prenatal diagnosis of Sanfilippo C disease

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: α-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis.     

NABat: A top-down,bottom-up solution to collaborative continental-scale monitoring

Collaborative monitoring over broad scales and levels of ecological organization can inform conservation efforts necessary to address the contemporary biodiversity crisis. An important challenge to collaborative monitoring is motivating local engagement with enough buy-in from stakeholders while providing adequate top-down direction for scientific rigor, quality control, and coordination. Collaborative monitoring must reconcile this inherent tension between top-down control and bottom-up engagement. Highly mobile and cryptic taxa, such as bats, present a particularly acute challenge. Given their scale of movement, complex life histories, and rapidly expanding threats, understanding population trends of bats requires coordinated broad-scale collaborative monitoring. The North American Bat Monitoring Program (NABat) reconciles top-down, bottom-up tension with a hierarchical master sample survey design, integrated data analysis, dynamic data curation, regional monitoring hubs, and knowledge delivery through web-based infrastructure. NABat supports collaborative monitoring across spatial and organizational scales and the full annual lifecycle of bats.     

Gender differences in public office workers’ satisfaction,subjective symptoms and musculoskeletal complaints in workplace and office environments

This study investigates differences between male and female public office workers’ satisfaction levels, sick building syndrome (SBS) symptoms and musculoskeletal disorder (MSD) complaints in workplace and office environments. Questionnaire surveys were performed in 30 offices from 15 public institutions. Male and female workers of the same age were coupled and selected from each office, gathering a total of 120 male and 120 female subjects. The results show that differences exist between genders in noise and lighting satisfaction levels, SBS-related symptoms (eye, nose, skin) and MSD complaints of hand/wrist/finger, while there is no difference in overall satisfaction level of office environments. The study also suggests that office design for public office workers should take into account gender differences in preventing MSDs and also SBS. The findings of this study are expected to serve as basic data for designing effective public office environments.     

生理因素对驾驶人行为及风险感知影响研究综述

为全面认识驾驶人行为及风险感知并分析行为成因,从驾驶人生理因素着手,从驾驶人视力、阻塞性睡眠呼吸暂停综合征和肌肉骨骼疾患3个方面梳理国内外驾驶人行为及风险感知的研究成果与研究不足。研究结果表明:驾驶人的生理疾病对其驾驶能力和危险感知存在显著影响;生理疾病严重程度与异常驾驶行为中的一般性失误、危险性失误行为之间具有显著正相关关系,疾病严重程度越高,出行失误行为的频率越高;之后可从理论和实验两方面着手,针对驾驶人的不同属性进行研究。     

Hot,Salty Water: A Confluence of Issues in Managing Stormwater Runoff for Urban Streams

Research increasingly highlights cause and effect relationships between urbanization and stream conditions are complex and highly variable across physical and biological regions. Research also demonstrates stormwater runoff is a key causal agent in altering stream conditions in urban settings. More specifically, thermal pollution and high salt levels are two consequences of urbanization and subsequent runoff. This study describes a demonstration model populated with data from a high gradient headwaters stream. The model was designed to explain surface water‐groundwater dynamics related to salinity and thermal pollution. Modeled scenarios show long‐term additive impacts from salt application and suggest reducing flow rates, as stormwater management practices are typically designed to do, have the potential to greatly reduce salt concentrations and simultaneously reduce thermal pollution. This demonstration model offers planners and managers reason to be confident that stormwater management efforts can have positive impacts.