Human biochemical genetics： an insight into inborn errors of metabolism

Inborn errors of metabolism （IEM） include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on： （1） manifestations of representative metabolic disorders; （2） the emergent technology and application of newborn screening of metabolic disorders using tandem mass spectrometry; （3） principles of managing IEM; （4） the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment.     

Diagnosis of Major Organic Acidurias in Children: Two Years Experience at a Tertiary Care Centre

Organic acid disorders are inherited metabolic disorders in which organic acids accumulate in tissues and biological fluids of affected individuals. Classical organic acidurias include methylmalonic aciduria, propionic aciduria, isovaleric aciduria and maple syrup urine disease (MSUD). They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present with acute symptoms early in life. 420 cases clinically suspected to have organic aciduria, with upper age limit of 12 years for a 2-year period (January 2007–December 2008) were enrolled into this study. Metabolic acidosis and neurological symptoms were the most common signs. Screening tests and thin layer chromatography were done for detection of organic acidurias. Identification and quantitation of organic acids in urine and quantification of amino acids in blood were done by high performance liquid chromatography. Out of 420 patients, 45 patients (10.7%) were found to have organic acidurias. 15 cases of methylmalonic aciduria, 16 cases of propionic aciduria, 13 cases of MSUD, and one case of isovaleric aciduria were diagnosed. Results demonstrate the importance of testing for organic acidurias. Since organic aciduria may cause irreversible brain damage if not treated, we recommend selective screening amongst severely ill children despite implied extra costs.     

Google应用技巧

文章详细分析了网络搜索引擎Google 的功能特征, 讨论了在使用中存在的一些现象和问题。通过具体例证说明: 在进行组合查询时, 要对所有的查询词分别加引号; Google 在对中文繁简字体语义转换时, 有可能出现明显的错误; 搜索到的数据在同一范围内、在以小时为单位内也会出现巨大的变化; 以及在不同范围内, 搜索同一信息时, 随时间的不同, 搜索到的结果会有不同的排序。     

广告语英译中的失误与策略评析--以国内服装品牌为例

广告语翻译不同于一般的翻译,它承载着推销产品,劝导消费者购买产品的重要功能,具有明确的商业目的。中文广告语的英译水平将直接影响到国内品牌与产品是否能被广大译语消费者接受和购买,使企业获取经济利益。通过对现今国内知名服装品牌的大量广告语翻译案例进行对比分析,针对在翻译过程中常出现的关于文化、语言、思维方面的失误,本文提出了相应的改进策略和方法,为今后广告语英译所借鉴。     

浅谈船舶实施ISPS规则对限制区安全管理出现的误区

面对严峻的全球反恐形势,海事组织为了防范海上恐怖主义及其它来自非传统领域的安全威胁,制定了《国际船舶和港口设施保安规则》(ISPS规则),并已于2004年7月1日实施。但由于实施时间较短,经验不足,通过对保安规则的具体实施情况的研究,总结出船舶在实施ISPS规则时针对船舶限制区的安全管理产生的一些误区。     

Interference of medical contrast media on laboratory testing

The use of contrast media such as organic iodine molecules and gadolinium contrast agents is commonplace in diagnostic imaging. Although there is widespread perception that side effects and drug interactions may be the leading problems caused by these compounds, various degrees of interference with some laboratory tests have been clearly demonstrated. Overall, the described interference for iodinate contrast media include inappropriate gel barrier formation in blood tubes, the appearance of abnormal peaks in capillary zone electrophoresis of serum proteins, and a positive bias in assessment of cardiac troponin I with one immunoassay. The interference for gadolinium contrast agents include negative bias in calcium assessment with ortho-cresolphthalein colorimetric assays and occasional positive bias using some Arsenazo reagents, negative bias in measurement of angiotensin converting enzyme (ACE) and zinc (colorimetric assay), as well as positive bias in creatinine (Jaffe reaction), total iron binding capacity (TIBC, ferrozine method), magnesium (calmagite reagent) and selenium (mass spectrometry) measurement. Interference has also been reported in assessment of serum indices, pulse oximetry and methaemoglobin in samples of patients receiving Patent Blue V. Under several circumstances the interference was absent from manufacturer-supplied information and limited to certain type of reagents and/or analytes, so that local verification may be advisable to establish whether or not the test in use may be biased. Since the elimination half-life of these compounds is typically lower than 2 h, blood collection after this period may be a safer alternative in patients who have received contrast media for diagnostic purposes.     

“新疆班”维吾尔族学生汉语句法偏误探究

通过对合肥幼儿师范高等专科学校12级“新疆班”维吾尔族学生的作业分析,总结搭配不当、残缺和多余、语序颠倒、多种句法偏误杂糅四种维吾尔族学生汉语句法偏误类型,探究维吾尔族学生汉语句法的语际迁移和语内迁移等偏误成因,为今后的对“新疆班”维吾尔族学生的汉语教学提供参考。     

Psychometric Properties of IRT Proficiency Estimates

Psychometric properties of item response theory proficiency estimates are considered in this paper. Proficiency estimators based on summed scores and pattern scores include non-Bayes maximum likelihood and test characteristic curve estimators and Bayesian estimators. The psychometric properties investigated include reliability, conditional standard errors of measurement, and score distributions. Four real-data examples include (a) effects of choice of estimator on score distributions and percent proficient, (b) effects of the prior distribution on score distributions and percent proficient, (c) effects of test length on score distributions and percent proficient, and (d) effects of proficiency estimator on growth-related statistics for a vertical scale. The examples illustrate that the choice of estimator influences score distributions and the assignment of examinee to proficiency levels. In particular, for the examples studied, the choice of Bayes versus non-Bayes estimators had a more serious practical effect than the choice of summed versus pattern scoring.     

《诗三家义集疏》标点斠例

1987年中华书局出版的校点本王先谦<诗三家义集疏>在使用中发现王氏所征引的毛<传>、郑<笺>部分标点有不妥之处.这些标点错误归纳起来,有不当断而断、当断而不断、当属上而属下、当属下而属上、因不明假借字而误断、因不明古今字而误断、因不明语法而误断,因不明名物而误断、因不明礼制而误断等九个方面.     

基于理想认知模型理论的商务翻译

运用认知语言学的理想认知模型理论可以较有效地解决商务翻译中译者由于受源文概念意义的影响而造成翻译中的语义错误这一问题。词语导引的具体理想认知模型决定词语的具体语义,通过分析认知模型即可识解词语的具体语义,从而有效避免由于误解所造成的误译。