A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion

Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product resulting from parental pericentric inversion have been reported so far. Only five cases of chromosomal insertion malsegregation involving 3q region are available yet, thus making it relatively rare. In this case report, we are presenting a unique case of discontinuous partial trisomy of 3q26.1-q28 region which resulted from a segregation error of two insertions involving 3q26.1 to 3q27.3 and 3q28 regions with ~ 21 Mb and ~ 2 Mb sizes, respectively. The maternally inherited insertion was cytogenetically characterized as der(8)(8pter → 8p22::3q26 → 3q27.3::3q28 → 3q28::8p22 → 8qter) and the patient's major clinical features involved Dandy Walker malformation, sub-aortic ventricular septal defect, upslanting palpebral fissures, clinodactyly, hirsutism, and prominent forehead. Besides, a review of the literature involving cases with similar chromosomal imbalances and cases with “3q-duplication syndrome” is also provided.     

Increased expression of mdig predicts poorer survival of the breast cancer patients

Breast cancer is the most common cancer and the second leading cause of cancer death among women of all races and Hispanic origin populations in the United States. In the present study, we reported that the survival time of the breast cancer patients is influenced by the expression level of mdig, a previously identified lung cancer-associated oncogene encoding a JmjC-domain protein. By checking the expression levels of mRNA and protein of mdig through both RT-PCR and immunohistochemistry in samples from 204 patients, we noticed that about 30% of breast cancer samples showed increased expression of mdig. Correlation of the mdig expression levels with the survival time of the breast cancer patients indicated a clear inverse relationship between mdig expression and patient survival, including poorer overall survival, distant metastasis free survival, relapse free survival, and post-progression survival. Taken together, these data suggest that an increased expression of mdig is an important prognostic factor for poorer survival time of the breast cancer patients.     

湿地植物根表铁膜研究进展

为了适应渍水环境,许多湿地植物都具有根系泌氧、形成铁膜的能力。因铁膜具有特殊的物理或化学结构,可以通过吸附和共沉淀作用影响元素在土壤中的化学行为和生物有效性,在植物吸收营养元素和重金属中起重要作用。综述了湿地植物根表铁膜的形成、影响因素以及根表铁膜对营养元素和重金属的生态环境效应,从表征技术方面阐述了根表铁膜的作用机制。对今后的研究方向给出如下建议:(1)扩大研究领域;(2)铁膜形成的动态变化过程;(3)铁膜对植物生理形态的影响;(4)利用先进的表征技术以确定铁膜的作用机制。     

Postnatal inflammation in the pathogenesis of bronchopulmonary dysplasia

Exposure to hyperoxia, invasive mechanical ventilation, and systemic/local sepsis are important antecedents of postnatal inflammation in the pathogenesis of bronchopulmonary dysplasia (BPD). This review will summarize information obtained from animal (baboon, lamb/sheep, rat and mouse) models that pertain to the specific inflammatory agents and signaling molecules that predispose a premature infant to BPD. Birth Defects Research (Part A) 100:189–201, 2014. © 2014 Wiley Periodicals, Inc.     

国产血清半乳甘露聚糖检测试剂对侵袭性肺曲霉菌病的诊断价值评估

目的：评估国产血清半乳甘露聚糖（Galactomannan,GM）检测试剂对侵袭性肺曲霉菌病的诊断价值。方法根据血液病/恶性肿瘤患者侵袭性真菌病的诊断标准与治疗原则（第四次修订版）[1]收集临床确诊侵袭性肺曲霉菌病（inva-sive pulmonary aspergillosis,IPA）、临床诊断IPA、拟诊IPA、排除IPA四组病例。采用天津贻诺琦公司酶联免疫吸附法（ELISA）试剂检测纳入的86例患者血清标本的GM浓度,分析其敏感性、特异性、阳性预测值（PPV）、阴性预测值（NPV）。结果86例病例中,临床诊断27例、拟诊12例、排除47例。在3种不同的阳性判断标准下,敏感性：9444%、9630%、6296%;特异性：5625%、4576%、6441%;PPV：4474%、4483%、4474%;NPV：9643%、9643%、7917%。统计学分析证实标准1（即血清GM值〉095μg/L为阳性,〈075μg/L为阴性,075~095μg/L为灰区,未将灰区加入计算）在3种判断标准中最优,故选择其为最终判断标准。结论该血清GM检测试剂盒诊断性能较好,可以用于侵袭性肺曲霉菌病的辅助诊断。     

两性霉素B治疗侵袭性肺部真菌感染的临床分析

目的 分析两性霉素B治疗ICU内侵袭性真菌感染的疗效与不良反应.方法 回顾性分析98例合并侵袭性肺部真菌感染的重症患者接受两性霉素B微泵静脉给药的临床资料.结果 两性霉素B的临床有效率77.55％,真菌清除率75.51％.不良反应包括寒战发热（9.18％）、皮疹（4.08％）、静脉炎（1.02％）、恶心呕吐（6.12％）、低钾血症（16.32％）、肝损害（1.02％）和肾损害（4.08％）.结论 国产两性霉素B对于重症患者侵袭性真菌感染疗效确定,采用持续微泵静脉给药不良反应发生率低.     

抗烯醇化酶抗体与（1-3）-β-D-葡聚糖检测诊断侵袭性念珠菌病的临床比较

目的：比较抗烯醇化酶抗体（抗-Eno）检测与（1-3）-β-D-葡聚糖（BG）检测对侵袭性念珠菌病（invasivecandidia-sis,IC）的诊断价值。方法留取临床为诊断IC而送检BG测定的患者血样,用ELISA法测定抗-Eno抗体,以真菌培养结果为基础,分析比较两种血清学方法诊断IC的效能。结果210例患者为研究对象。15例患者经念珠菌培养确诊IC,确诊感染率71%;BG阳性54例,阳性率为257%;抗-Eno阳性33例,检出阳性率为157%。抗-Eno和G试验诊断IC感染的敏感性、特异性、阳性预测值、阴性预测值分别为467%、867%、212%、955%和333%、749%、93%、936%。两种血清学方法联合检测,敏感性提高至667%。结论抗-Eno对IC的诊断性能优于G试验;联合两种血清学方法,能有效提高敏感性。     

分子影像技术在转化医学中的应用*

摘要：基础医学、药物研发和临床医学是三个不同的的领域,因此这些领域的很多生命科学研究成果经常无法及时应用于临床实 践。转化医学是以疾病为中心,加速将基础研究的成果用于临床诊断和治疗中,旨在有效的将三个领域有机结合在一起。分子影 像学(molecular imaging, MI) 可在活体上、在细胞和分子水平对生物学过程成像并进行定性和定量研究,为转化医学的实现提供 了保证。分子影像技术采用无创的医学影像技术使活体状态下组织细胞中的特殊分子生物学特性得以直观揭示,主要用于对疾 病早期诊断、疾病分期（分层）、疗效监测、指导疾病的个体化治疗以及新药的研发等领域。本文主要介绍分子影像的技术特点、其 在转化医学中发挥的作用以及其在个体化治疗中临床意义进行综述。     

阻生牙拔除术的临床进展

阻生牙是指由于各种阻力导致不能正常萌出的牙齿的统称,通常阻生牙牙体大部甚至全部埋伏于骨内。阻生牙可导致各种并发症的发生,因此临床上一般主张预防性拔除阻生牙。阻生牙拔除手术因其难度高、风险大、术后反应重一直是口腔牙槽外科关注的重点。近年来随着手术器械、手术观念等方面的进步,阻生牙拔除术取得了一些临床进展。新型CT扫描设备CBCT可以为手术设计提供精确定位;借助各类微创器械,微创拔牙技术减小了手术创伤,降低了手术风险;新型麻醉方式和新型局麻药物可以极大减轻疼痛反应;心理干预也将成为阻生牙拔除患者围手术期管理的重要步骤。本文对近年来阻生牙拔除术在定位方式、微创技术、团队协作、疼痛控制和心理干预等方面的临床进展做一综述。     

Environment and dispersal paths override life strategies and residence time in determining regional patterns of invasion by alien plants

We describe a novel dissimilarity framework to analyze spatial patterns of species diversity and illustrate it with alien plant invasions in Northern Portugal. We used this framework to test the hypothesis that patterns of alien invasive plant species richness and composition are differently affected by differences in climate, land use and landscape connectivity (i.e. Geographic distance as a proxy and vectorial objects that facilitate dispersal such as roads and rivers) between pairs of localities at the regional scale. We further evaluated possible effects of plant life strategies (Grime's C-S-R) and residence time. Each locality consisted of a 1 km² landscape mosaic in which all alien invasive species were recorded by visiting all habitat types.Multi-model inference revealed that dissimilarity in species richness is more influenced by environmental distance (particularly climate), whereas geographic distance (proxies for dispersal limitations) is more important to explain dissimilarity in species composition, with a prevailing role for ecotones and roads. However, only minor differences were found in the responses of the three C-S-R strategies. Some effect of residence time was found, but only for dissimilarity in species richness. Our results also indicated that environmental conditions (e.g. climate conditions) limit the number of alien species invading a given site, but that the presence of dispersal corridors determines the paths of invasion and therefore the pool of species reaching each site. As geographic distances (e.g. ecotones and roads) tend to explain invasion at our regional scale highlights the need to consider the management of alien invasions in the context of integrated landscape planning. Alien species management should include (but not be limited to) the mitigation of dispersal pathways along linear infrastructures. Our results therefore highlight potentially useful applications of the novel multimodel framework to the anticipation and management of plant invasions.