The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements

We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal ultrasound diagnosis of Toriello–Carey syndrome

Toriello–Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello–Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello–Carey syndrome is feasible in the second trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Cyanobacterial bloom dynamics in Lake Taihu

<正>Lake Taihu is the third largest freshwater lake in China and serves as an important drinking water source for the local populace;however,decades of excessive nutrient loading fueled by anthropogenic activities have resulted in hypertrophic conditions,promoting the annual formation of nuisance phytoplankton blooms(Chen et al.,2003;Duan et al.,2009)     

Divergence of carbon dioxide fluxes in different trophic areas of Taihu Lake,China

IntroductionCarbondioxide(CO2 )isaprincipalgreenhousegasandthereforetheirair waterexchangesareimportantproblemsinterrestrialecosystemsforclimatechangestudy(Frankignoulle ,1 998;Chimel,2 0 0 1 ) .ThedirectionofCO2 gasexchange(evasionorinvasion)isdependentonthedirectionoftheCO2concentrationgradientbetweentheairandthesurfacewater;themagnitudeoftheexchangedependsadditionallyonthegasexchangecoefficient,k.Alloflakesinland ,withitssmallareabutlargeatmosphericCO2 fluxrange ,playanimportantroleinev…     

基于GIS下的太湖水质富营养化模糊综合评价

在地理信息系统和地统计学的支持下,探讨了模糊数学与层次分析法相结合的方法在水体富营养化评价中的应用.以太湖为研究对象,选取总磷、总氮、叶绿素、化学需氧量、5日生化需氧量、溶解氧和透明度7项指标进行评价.在对研究区域采样数据进行地统计分析后估算出整个区域评价指标的值,在此基础上建立不同指标的隶属度函数,并计算其隶属度;同时根据层次分析法的原理,确定了各项评价指标的权重,最终得到研究区域的综合结果,绘制出富营养化评价图.结果表明:北部、西北部湖区营养水平最高,属重富营养;中部湖区营养程度为中富营养;东南部湖区营养水平最低,属中营养.     

Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36

Deletion of the distal end of the short arm of chromosome 1 (1p36) is thought to be a common terminal chromosomal deletion. However, few cases prospectively diagnosed prenatally have been reported. In this case, prenatal ultrasound at 21 weeks of gestation noted the fetus to have mild ventriculomegaly (Vhanterior = 11 mm and Vhposterior = 12 mm) and increased nuchal edema (6 mm). Maternal serum α-fetoprotein was normal unlike in a majority of previously described cases. The prenatal ultrasound features were further clarified with fetal MRI. Chromosome analysis following amniocentesis demonstrated a 1p36 deletion, which was confirmed by fluorescence in situ hybridization (FISH). The syndrome associated with 1p36 deletion is well described in infants and is characterized by typical facial features (prominent forehead, straight eyebrows. deep-set eyes, flat nasal bridge and a pointed chin). Other associated features are neurodevelopmental delay, seizures, cardiomyopathy and neurosensory hearing impairment. This case supplements our knowledge of the prenatal features of 1p36. Identification of this deletion by direct chromosomal analysis can be technically difficult and vigilance is required to improve diagnosis. FISH analysis is an important diagnostic adjunct where the diagnosis is suspected following classical G-banding techniques. However, in this chromosomal anomaly there remain few characteristic prenatal signs that are readily diagnosed with prenatal imaging. Copyright © 2007 John Wiley & Sons, Ltd.     

Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease that may cause premature sudden death, especially in teenagers and young adults. The recent progress in the molecular genetics of the disease has made genetic testing sometimes available in clinical practice. We report the case of a couple who still requested prenatal molecular testing after detailed information had been given through a multidisciplinary consultation. Prenatal diagnosis in HCM is associated with complex medical and psychological implications, in addition to general ethical considerations, as the potential value of the diagnosis is counterbalanced by the highly variable expression of the disease and the difficulty in predicting its evolution. The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM. In the specific context of this case, we decided to agree to the request of the parents and performed the prenatal diagnosis. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis performed in the context of HCM. Copyright © 2004 John Wiley & Sons, Ltd.     

Amiodarone treatment in pregnancy for dilatative cardiomyopathy with ventricular malignant extrasystole and normal maternal and neonatal outcome

Amiodarone treatment in pregnancy might be difficult to handle because of the long half-life of the drug (14–28 days up to 2 months) and because it reduces maternal and neonatal thyroid activity. Although short-term use in pregnancy has been described in cases of fetal supraventricular tachycardia, there are few reports on the chronic use of the drug. In this paper we describe our experience with amiodarone treatment in two pregnant sisters with familial dilatative cardiomyopathy and ventricular malignant extrasystole. Prolonged administration of amiodarone (400–200 mg/die) since the beginning of pregnancy did not have any adverse effects; maternal and neonatal thyroid function was normal, as was the neurological and motor development of the neonates.     

Eutrophication development and its key regulating factors in a water-supply reservoir in North China

Yanghe Reservoir is an important source of drinking water for Qinhuangdao City,North China;however,in recent decades this water source has been eutrophic with recurrent summer cyanobacterial blooms.The trophic grade of the system in summer was mesotrophiceutrophic in 1990 and became hypertrophic in 2011.The nutrient availability is extremely high during the entire year,and the water temperature should be the primary driver of the summer blooms.In May-October of 2010 and 2011,abrupt variations were observed in the Secchi depth(SD) and chlorophyll a(Chl-a),and both the correlated analysis of Chl-a-SD and trophic status indices(TSI) deviation(TSI Chl-a-TSI SD) showed that algal cell density dominated light attenuation.During the algal bloom outbreak,the microcystin concentration was found to vary between 0.35-2.12 μg/L in 2010 and 0.11-1.86 μg/L in 2011.The maximum microcystin content was more than two times the safety limit required for drinking water.Inflow discharges were most concentrated in the summer,with periods of lower residence time and the largest water level fluctuation over the entire year.When a high availability of nutrients promoted a high Chl-a concentration in the whole system,it appeared that the instability caused by the decrease in residence time could not produce effective changes in the cyanobacterial abundance.The results indicated that nutrient enrichment in the aquatic systems of Yanghe Reservoir is the most serious problem and that the status would not been modified effectively by increasing hydrological fluctuations(e.g.,decreasing the residence time).Therefore,decreasing the nutrient concentrations is the only route to improve the water quality of this reservoir.     

Effect of nutrient level on phytoplankton community structure in different water bodies

Increasing levels of pollution within water bodies can cause eutrophication and an associated rapid growth in and reproduction of phytoplankton. Although most frequently occurring in bodies of water such as lakes and dams, in recent years an increasing number of river systems in China have suffered serious algal blooms. The community structure of phytoplankton may differ, however, dependent on the hydrodynamic conditions and nutrient levels within the water body. The field investigation results obtained from a stagnant river in Suzhou City and Taihu Lake, China, showed that in water with higher concentrations of nitrogen and phosphorus, Chlorophyta became the predominant species and in water with lower concentrations of nitrogen and phosphorus, Cyanobacteria became the predominant species. Growth experiments with competitive species, Microcystis aeruginosa Kütz and Scenedesmus quadricauda (Turp.), were conducted at three different nutrient levels. The biomass of algae in pure and mixed cultures was measured under conditions of different N/P ratios at oligotrophic, eutrophic and hypertrophic nutrient levels. The results indicated that the most suitable state for the growth and reproduction of M. aeruginosa and S. quadricauda were eutrophic conditions in both pure and mixed cultures. Under competition, however, the lower medium nutrient levels favoured M. aeruginosa, while the higher medium nutrient levels better suited S. quadricauda. Under similar hydrodynamic conditions, the community structure of phytoplankton in the water body was determined by the dominant species in competition for nutrients.     

Quantification of microcystin-producing and non-microcystin producing Microcystis populations during the 2009 and 2010 blooms in Lake Taihu using quantitative real-time PCR

Lake Taihu, a large, shallow hypertrophic freshwater lake in eastern China, has experienced lake-wide toxic cyanobacterial blooms annually during summer season in the past decades. Spatial changes in the abundance of hepatotoxin microcystin-producing and non-microcystin producing Microcystis populations were investigated in the lake in August of 2009 and 2010. To monitor the densities of the total Microcystis population and the potential microcystin-producing subpopulation, we used a quantitative real-time PCR assay targeting the phycocyanin intergenic spacer (PC-IGS) and the microcystin synthetase gene (mcyD), respectively. On the basis of quantification by real-time PCR analysis, the abundance of potential toxic Microcystis genotypes and the ratio of the mcyD subpopulation to the total Microcystis varied significantly, from 4.08× 10⁴ to 5.22× 10⁷ copies/mL, from 5.7% to 65.8%, respectively. Correlation analysis showed a strong positive relationship between chlorophyll-a, toxic Microcystis and total Microcystis; the abundance of toxic Microcystis correlated positively with total phosphorus and ortho-phosphate concentrations, but negatively with TN:TP ratio and nitrate concentrations. Meanwhile the proportion of potential toxic genotypes within Microcystis population showed positive correlation with total phosphorus and ortho-phosphate concentrations. Our data suggest that increased phosphorus loading may be a significant factor promoting the occurrence of toxic Microcystis bloom in Lake Taihu.     

太湖春季和秋季浮游植物的光合作用活性

应用Phyto-PAM浮游植物荧光仪对2012年太湖浮游植物群落光合作用活性的时空分布进行测定. 结果表明:春季蓝藻、绿藻和硅/甲藻的F_v/F_m(最大光量子产量)分别为0.35~0.49、0.34~0.68和0.09~0.56;秋季则分别为0.34~0.53、0.55~0.68和0.28~0.61. 春季蓝藻、绿藻和硅/甲藻的NPQ(非光化学淬灭)分别为0.012~0.165、0.085~0.201和0.104~0.281,秋季则分别为0.035~0.263、0.052~0.118和0.048~0.301. RLC(快速光响应曲线)的特征参数表明,太湖浮游植物群落光能利用效率和光合作用速率具有显著时空差异. 相关分析表明,绿藻和硅/甲藻的光合作用活性与环境因子没有显著相关性;而蓝藻的F_v/F_m与RLC的特征参数呈显著正相关,与ρ(Chla)呈显著正相关(P<0.05,R=0.49),与SD(透明度)呈极显著负相关(P<0.01,R=-0.56),说明太湖蓝藻的光合作用活性与富营养化水平具有一致性. 从空间分布来看,草型湖区蓝藻的光合作用活性和ρ(Chla)均显著低于藻型湖区,表明水草能抑制蓝藻的光合作用活性和生长,进而降低蓝藻水华强度.      

Contrasting factors controlling microbial respiratory activity in the sediment of two adjacent Mediterranean wetlands

Electron transport system (ETS) activity of sediments as an indication of microbial metabolic activity was examined in two adjacent Mediterranean wetlands (southern Spain). We determined the spatio-temporal variation in ETS, and we explored the potential biological [organic matter (OM), chlorophyll a (Chl a), aerobic and anaerobic bacteria] drivers of sediment ETS activity. ETS activity was notably higher in the eutrophic Lake Nueva (34.91 μl O₂ g⁻¹ D.W. h⁻¹) than in the hypertrophic Lake Honda (24.99 μl O₂ g⁻¹ D.W. h⁻¹). Strong spatial differences were observed in ETS in both study sites. Highest ETS values were achieved at the surface sediment at the deepest sampling station in each lake and a notable reduction in ETS with sediment depth was observed. By using linear regression and multiple regression analysis, OM was identified as the best predictor of ETS in Lake Honda while Chl a was the best predictor in Lake Nueva. The strong influence of OM supply on ETS activity in sediment from Lake Honda was the consequence of the labile nature of sedimentary OM, while a more refractory OM (with a higher contribution of vascular plants) comprised most of the sedimentary OM from Lake Nueva. By contrast, a large contribution of phytobenthos (supported by a higher lake water transparency) to ETS has been recognized in sediments from Lake Nueva. In summary, the results of this study revealed that the relative importance of planktonic primary producers (phytoplankton), benthic algae and vascular plants in the study sites could explain the differences observed in the intensity of sediment ETS as well as in their drivers.     

Fetal arrhythmias: the Saint-Justine hospital experience

We intend to review our experience with the investigation and management of foetal arrhythmia on the basis of superior vena cava/ascending aorta (SVC/AA) Doppler flow velocity recordings. Irregular rhythms n = 307. Premature atrial and ventricular contractions were easily identified and generally self-limited in time. Sustained bradycardia n = 19. Four had sinus bradycardia, six presented with blocked atrial bigeminism, three showed 2:1, and five had a complete atrio-ventricular (AV) block. Another foetus that presented with first-degree AV block developed a Luciani–Wenckebach phenomenon 1 week later. These different types of bradycardia were all identified on SVC/AA Doppler recordings. Tachyarrhythmia n = 30. Five types of tachyarrhythmia were observed: Type I: Short ventriculo-atrial (VA) tachycardia (VA < AV) , n = 11. Ten foetuses of this group presented a distinctive Doppler flow velocity pattern characterised by 1:1 AV conduction and a tall atrial wave (‘a’ wave) superimposed on the aortic ejection wave. They were considered to have re-entrant tachycardia through a fast-conducting AV accessory pathway; all 10 responded to digoxin therapy. The eleventh foetus with short VA tachycardia had atrial ectopic tachycardia with AV node dysfunction; he was treated successfully with sotalol. Type II: Long VA tachycardia (VA > AV): n = 8. In seven cases, an ‘a’ wave of normal amplitude with normal AV time interval could be clearly identified in front of the aortic ejection wave: one foetus in this group was considered to be in sinus tachycardia based on the variability of its heart rate; in another, sudden onset of tachycardia triggered by extrasystoles led to the possibility of permanent junctional reciprocating tachycardia (PJRT). The five other foetuses had atrial ectopic tachycardia. The last foetus presented with AV and VA intervals of the same duration and a heart rate of 210 beats/min; he did not respond either to digoxin or to sotalol, and was found after birth to have PJRT. The drug of first choice in this group was sotalol. Type III: Simultaneous onset of atrial and ventricular contractions : n = 3. These foetuses were classified as junctional ectopic tachycardia. Two responded to amiodarone. The other foetus converted spontaneously to sinus rhythm. Type IV: Flutter : n = 7. All presented with 2:1 AV relationship except one who had a variable block. Digoxin was prescribed as a first choice associated with sotalol in three cases. Conversion to sinus rhythm was documented in all; however, one hydropic foetus with advanced cardiomyopathy died one day after birth. Type V: Ventricular tachycardia : n = 1. This 30-week foetus presented alternance of AV dissociation (atrial rate: 130, ventricular rate: 170 beats/min) and atrial capture (ventricular rate of 138 beats/min). The arrhythmia responded well to propanol, and no recurrence was recorded after birth. Precise prenatal identification of arrhythmia type can be achieved with the SVC/AA Doppler approach. Such information allows for a better management and a rational choice of appropriate anti-arrhythmic drug. Copyright © 2004 John Wiley & Sons, Ltd.     

黔东同古金矿床地质特征及其成因探讨

同古金矿已有较长的民采历史。本研究在前人工作的基础上．结合开采揭车出的地质现象，从地层、构造、石英脉地质特征、矿石组分、金的富集和产出特征、成矿温度，矿床成因等方面对该金矿的地质特征进行了较全面的研究，特别是对以往工作没有揭露但对矿床有着重要控制作用的、新发现的剪切破碎带Fx进行了详细的研究，并指出了进一步找矿的方向。本研究成果对该地区寻找同类型金矿和新的富矿体将起重要作用。     

Transport of fish from Norway: energy analysis using industrial ecology as the framework

In this article, industrial ecology is used as a framework for analysing transport energy and its implication for products. The importance of the energy use for transport in a natural resource production system is analysed. By using fish as a case study, it is shown that the amount of energy for transport is highly dependent on the transport mode used. When applying industrial ecology principles for making assessments of the environmental impacts of products, the whole product chain is examined. This is an extended life-cycle approach, which also includes the transport of the finished products from the exporter to the importing country. This last part of the transport chain can be extremely energy demanding, as is shown for the case of fish transport. This finding has implications for the products, and for the form in which the products should be transported. Increasing the energy efficiency of production systems is an important industrial ecology principle, and must be taken into consideration when analysing product chains. A revision of today's practice of transporting large quantities of fresh whole fish by transcontinental airliners is bound to be necessary. This is a consequence of the demands for increased energy efficiency of tomorrow's industrial production systems.     

离子色谱法测定多种水体中碘化物应用研究

利用AS19阴离子交换分离柱,KOH淋洗液自动发生器,抑制型电导检测器,建立了测定多种水体中碘化物的离子色谱法.讨论了干扰及消除、色谱条件的优化,分析方法的线性与检出限、精密度、准确度等,并应用该方法对多种水体中碘化物进行了测定.结果表明:该方法不受水体中其他阴离子干扰,检出限低,线性范围宽,相关系数R2=0.999 9,精密度高,准确度好,操作简便可行,适用于多种水体中碘化物的测定.     

浅谈一元线性回归在清洁生产审核中的应用

回归分析法是分析相关因素相互关系的一种数理统计方法,这种方法通常应用在预测分析中,如在市场预测时的产品需求预测,而这种方法亦可用于企业清洁生产审核,通过建立一元回归方程,从而表明消耗-生产之间的关系,并更深入地对绩效进行简单的分析,本文就一元线性回归在企业清洁生产审核中的应用进行了简要论述.     

Local agenda 21; articulating the meaning of sustainable development at the level of the individual enterprise

While there are examples of good practice the engagement of business in Local Agenda 21 has been restricted. This is certainly true in the UK experience. ‘Missing’ the supply side of the economy in this way is clearly unsatisfactory. This problem has been addressed by the Centre for Sustainable Development from a particular perspective, which follows the multi stakeholder principles of sustainable development (SD). This paper analyses a project to make a simple clear communication tool, without jargon, to communicate the meaning of SD in different dimensions to small and medium sized businesses. The project produced a business workbook directly useful to business and that can be utilised by local authorities in the business interaction parts of their Local Agenda 21 programmes. The paper examines further what is involved in a particular aspect of the process of SD, in the regional context, and seeks to underpin the understanding that SD is a process. As part of this issues relevant to culture change are examined. A consideration of the stakeholder relationships and dynamics is central.     

Development and valuation of adaptation pathways for storm water management infrastructure

Policymakers today are faced with a difficult task of planning for large scale infrastructure that can cater to the climatic and socio-economic changes that the future will bring. To address the deeply uncertain nature resulting from long-term changes, it is becoming necessary to develop strategies that support flexibility and react more strategically than traditional planning approaches. This paper applies the concept of adaptation tipping points and adaptation pathways to a case study in Singapore for the planning of long-term urban drainage infrastructure. Using conventional grey and sustainable green solutions in isolation and in combination, adaptation pathway maps are developed and compared across outlined climatic and landuse scenarios. To understand and justify if the imparted flexibility is worth its cost, economic assessments are performed. This is a valuable extension of the existing framework, helps to identify the preferred configuration of land use and sub-select adaptation actions that should be implemented at the current time frame. The main finding of this study is that the adaptation pathways map for the sustainable grey landuse scenario economically outperforms those of the other outlined land uses. This provides a valuable insight for policy makers, as it implies that if carefully planned development is undertaken, the requirements of storm water management can be met in a sustainable manner, while simultaneously freeing up land for other purposes. This is especially important in the context of highly dense urban areas such as Singapore, where land is a scare resource.