Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd.     

西安市大气中二元羧酸有机气溶胶组成及来源

为研究西安市冬季大气PM10中二元羧酸类有机气溶胶的组成和来源,采集了西安市2009年1~2月份的PM10样品,并利用GC/MS对样品中二元羧酸进行了化学表征.结果表明:西安市冬季大气中二元羧酸总浓度为(1597±725)ng/m3,其中草酸浓度最高[(1162±570)ng/m3],其次是邻苯二甲酸[(196±82)ng/m3]、丁二酸[(98±71)ng/m3]和丙二酸[(58±45)ng/m3].西安市二元羧酸浓度高于北京、南京、广州、香港等城市14%~350%,表明其污染严重,其中草酸相对含量远高于国内其他城市,显示西安市冬季大气气溶胶更为老化.C3/C4, C6/C9和Ph/C9比值及其相关性进一步表明二元羧酸主要来自光化学氧化.通过对水溶性有机碳(WSOC), 有机碳(OC), 元素碳(EC), 二次有机碳(SOC)的分析,发现WSOC主要来自于二次有机碳(SOC)的形成.另外,温度升高,相对湿度增加,导致春节后尽管燃煤排放污染物减少,但二元羧酸浓度并无降低,而相对含量较节前却显著增加.     

内电解人工湿地冬季低温尾水强化脱氮机制

针对湿地冬季运行效率低、污染物去除能力差,本研究通过对比无植物湿地、普通湿地和内电解湿地冬季低水温下(3~12℃)对污水厂尾水的脱氮效能,深入分析其微生物群落结构组成,揭示内电解湿地的强化脱氮机制.结果表明,内电解湿地可以更好地利用尾水中碳源,脱氮效果优势明显,出水TN浓度维持在(9±0.29)mg·L~(-1),TN平均去除率达42.27%,比无植物湿地和普通湿地分别高出17.91%、17.33%.冬季低温条件下,内电解湿地微生物活性仍很高,荧光显色法测得微生物活性达到0.224 mg·g~(-1),分别是无植物湿地和普通湿地的2.6、3.4倍,反硝化强度分别是无植物湿地和普通湿地的2.8、3.3倍.高通量测序表明,内电解湿地基质微生物群落多样性优于无植物湿地和普通湿地.检测出的脱氮微生物主要有脱氯单胞菌、根瘤菌、生丝微菌、红杆菌,还有自养反硝化细菌产硫酸杆菌.内电解湿地在脱氮微生物总量上有明显优势,脱氮微生物占微生物总量的7.13%,分别是无植物湿地、普通物湿地的3.8、8.7倍,因而脱氮效率更高.     

湖南慈利马尾松树轮宽度对气候的响应及1854年以来冬季极端低温重建

利用采自湖南慈利的马尾松树轮样本,建立研究区的标准树轮宽度年表。树轮气候响应分析发现:马尾松径向生长与月最大日降水量在生长季之前部分月份显著负相关(p0.05),在生长季之内部分月份显著正相关(p0.05),与月平均温度、月平均最低温度、月极端最低温度在生长季之前和之内大多月份均显著正相关(p0.05),其中与上一年11月到当年2月(冬季)的平均极端最低温度相关最好(r=0.62,p0.01)。重建了湖南慈利地区1854年以来冬季极端最低温度,重建气温在十年尺度上表现出明显的反"S"型,1854—1916年和1981—2015年处于暖冬时期,1917—1980年处于寒冬时期。此外,共发现29个寒冬年,其中包括3个寒冬时段,分别为1922—1925年、1927—1930年和1953—1960年,其中1953—1960年是自1854年以来最冷的时段。空间相关性分析表明重建序列可以指示我国中东部的冬季低温变化,而冬季低温可能与热带印度洋、西太平洋海温变化异常有关。     

A new report of mesomelic camptomelia,polydactyly and Dandy–Walker complex in siblings

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy–Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright © 2003 John Wiley & Sons, Ltd.     

Features of fatal injuries in older cyclists in vehicle–bicycle accidents in Japan

Objective: The purpose of this study was to identify and better understand the features of fatal injuries in cyclists aged 75 years and over involved in collisions with either hood- or van-type vehicles.

Methods: This study investigated the fatal injuries of cyclists aged 75 years old and over by analyzing accident data. We focused on the body regions to which the fatal injury occurred using vehicle–bicycle accident data from the Institute for Traffic Accident Research and Data Analysis (ITARDA) in Japan. Using data from 2009 to 2013, we examined the frequency of fatally injured body region by gender, age, and actual vehicle travel speed. We investigated any significant differences in distributions of fatal injuries by body region for cyclists aged 75 years and over using chi-square tests to compare with cyclists in other age groups. We also investigated the cause of fatal head injuries, such as impact with a road surface or vehicle.

Results: The results indicated that head injuries were the most common cause of fatalities among the study group. At low vehicle travel speeds for both hood- and van-type vehicles, fatalities were most likely to be the result of head impacts against the road surface.

The percentage of fatalities following hip injuries was significantly higher for cyclists aged 75 years and over than for those aged 65–74 or 13–59 in impacts with hood-type vehicles. It was also higher for women than men in the over-75 age group in impacts with these vehicles.

Conclusions: For cyclists aged 75 years and over, wearing a helmet may be helpful to prevent head injuries in vehicle-to-cyclist accidents. It may also be helpful to introduce some safety measures to prevent hip injuries, given the higher level of fatalities following hip injury among all cyclists aged 75 and over, particularly women.     

Oil dependency,political institutions,and urban–rural disparities in access to electricity in Africa

In line with the resource curse literature, this paper examines the effect of oil dependency on the disparities in access to electricity between urban and rural areas in Africa, conditional on the quality of political institutions. Based on data from 36 African countries over the period 2000–2017, our investigation suggests that oil rents (% of GDP) increase urban–rural disparities in access to electricity. However, the quality of institutions shapes the effect of oil dependency on these disparities. Specifically, a 10% increase in the institutional quality score reduces the adverse effects of oil rent on electricity access disparity by around 19%, and the negative impact of oil dependency on urban–rural disparities is reversed when institutional quality reaches a score of 52% on a scale from 0 to 100. The robustness tests support these results and call for strengthening the quality of institutions to overcome the resource curse in Africa.     

Dynamic pressure induced by a methane–air explosion in a coal mine

The hazardous effect of dynamic pressure and strong gas flows induced by a methane–air mixture explosion in underground coal mines is studied. The dynamic pressure effect of a methane–air explosion was analyzed by numerical simulation, in a duct and tunnel. Compared to the overpressure generated by an explosion that can act on a body, the dynamic pressure caused by the high-speed flow of the gaseous combustion products can cause serious damage as well. At the structural opening of a coal mine, the destruction caused by the dynamic pressure induced by a methane–air explosion is more serious than the overpressure. For a tube or tunnel partially filled by a methane–air mixture, the dynamic pressure is lower than the overpressure in the region occupied by the flammable mixture. Beyond the premixed region, the dynamic pressure is of the same order of magnitude as the overpressure.     

The moderating role of calling in the work–family interface: Buffering and substitution effects on employee satisfaction

This research seeks for improved understanding regarding the interaction of meaningful work and the work–family interface. Existing literature suggests that experiencing a sense of calling toward work makes the work domain particularly salient to employees compared to other life domains. In this article, we draw on this idea, rooted in identity theory, to hypothesize that a sense of calling toward work diminishes the effects of work–family conflict and work–family enrichment on employee's job and life satisfaction. We test these ideas in two studies. First, we surveyed an alumni sample of 598 employees from various jobs, industries, and job levels. Then, in a constructive replication, we surveyed 327 employees using a time-lagged design. Calling was found to significantly buffer the effect of work–family conflict on job satisfaction in Study 2, but not Study 1. Calling did not buffer the effect of conflict on life satisfaction in either study. However, both studies demonstrated that calling attenuated (substituted for) the effect of work–family enrichment on job satisfaction. Study 1 supported the idea that calling attenuates the effect of enrichment on life satisfaction; however, this interactive effect was reversed in Study 2, contrary to expectations. We discuss implications for theory and practice related to callings and career choices, as well as for the role of calling and work identity in the work–family interface.