Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46, XX/47, XX,+mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 a-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.     

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright © 2005 John Wiley & Sons, Ltd.     

Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: Prenatal diagnosis in chorionic villi and amniotic fluid

The prenatal diagnosis of an 11q;22q translocation in a triplet pregnancy detected at the time of chorionic villus sampling (CVS) because of advanced maternal age is reported. Karyo-types obtained from two apparently different CV samples showed the balanced form of translocation, while the one obtained from a third empty sac showed the unbalanced form: 46, XX, −22, + der(22)t(11;22). Second-trimester amniocentesis confirmed the balanced translocation in one of the two viable fetuses and a normal karyotype in the other. The detected karyotypes derived from two different types of meiotic segregation, alternate and adjacent 1. To our knowledge, this is the first reported case of an unbalanced karyotype not due to a 3:1 meiotic segregation of this specific translocation.     

ECD氧气诱导法分析大气中痕量HCFC-22

HCFC-22(CHClF₂)是CFC-12的主要替代物,它在大气中的体积分数仅为10^-12级.而且对ECD检测器响应灵敏度很低.本文经过低温浓缩进样后采用氧气诱导法来增强ECD对它的分析灵敏度,载气中氧气的体积分数为0.54%时,信噪比最大,此时ECD灵敏度增强约500倍.结合该条件下ECD温度选择、程序升温和载气流量的研究,建立了高灵敏度ECD气相色谱测定大气中HCFC-22浓度的实用分析方法.     

Long memory in energy futures markets: Further evidence

This paper investigates long memory (or long-range dependence) in price returns and volatilities of energy futures contracts with different maturities. Based on a modified rescaled range analysis and three local Whittle methods, the results from rolling sample test suggest that the returns showed little or no long-range dependence over time but the volatilities displayed significant time-varying long-range dependence. Our evidence shows that some extreme events could cause long memory in returns and volatilities, leading to market inefficiency. Employing multiscale analysis, we find that the returns displayed no long-range dependence for any of the chosen time scales. Significant long-range dependence only existed in volatilities for daily time scales but not for monthly or yearly time scales.     

某超临界汽轮机主汽阀杆断裂原因分析

目的 某热电厂超临界机组汽轮机发生主蒸汽阀阀杆(标称材质为22Cr12NiMoWV(C422)钢)断裂事故,对发电安全造成不良影响.为此,分析该阀杆断裂失效的原因,提出改进措施,以避免类似事故的发生.方法 从外观检查、成分测定、金相检验以及断口观察等方面入手,结合硬度和冲击性能测试,探讨阀杆断裂的主要原因.结果 该断裂阀杆材质符合22Cr12NiMoWV钢的成分标准,但其内部存在网状分布的组织偏析,导致其力学性能达不到标准要求.此外,该断裂阀杆还存在零件设计、加工及热处理工艺不合理等问题.结论 该阀杆变径处采用直角过渡,十字贯穿孔加工刀痕明显,易造成应力集中,诱发裂纹,裂纹选择性地沿力学性能薄弱的组织偏析区失稳扩展,最终导致阀杆断裂失效.据此,从质量控制、工艺规范化等方面提出改进建议.     

施工环境对密封剂剥离强度影响研究

目的研究密封剂的施工工艺环境对其剥离强度的影响。方法采用正交实验法,分别从待密封表面清洗、密封剂厚度、密封剂混合比、密封剂施工温湿环境等4个影响因素研究对剥离强度的影响,找出影响因素的主次关系和各自影响趋势。结果对密封剂剥离强度影响程度由大到小顺序依次为表面清洁度、涂覆厚度、温度/湿度、密封剂混合比。剥离强度与待密封表面清洗程度、密封剂厚度大小成正相关,与密封剂温/湿环境大小成反相关。结论在密封剂施工工艺环境规范内,了解各环境因素的影响特点,能有效提高密封剂的剥离强度大小。     

Is Russia suffering from Dutch Disease? Cointegration with structural break

This paper examines whether Russia suffers from “Dutch Disease” by investigating the real appreciation of the Russian ruble and the relative de-industrialization in the post Soviet Union-era. According to UNDP Russia Report (2009) the Russian economy has indeed exhibited some typical symptoms of “Dutch Disease” in recent years as upward movements in oil prices are accompanied by a reduction in the share of manufacturing output and an increase in service prices. Furthermore, the report claims that these developments may trigger a recession in Russia in the future. Using Gregory and Hansen (1996a, 1996b) and Arai and Kurozumi (2007) structural break cointegration frameworks, our results indicate that the Russian economy exhibits some typical symptoms of “Dutch Disease”. Although the diagnosis is not certain, the risk is evident. Hence, policies that would make the Russian economy more robust to shocks in the oil price need to be carefully designed and implemented.