The Documentary Real: Thinking Documentary Aesthetics

In this article we consider the growing interest in recent years in the use of documentary strategies in the wold of contemporary art, film and performing arts and explore some of the central epistemological assumptions underpinning the persistent idea that the documentary should be equated with ‘non-fiction’. Following Stella Bruzzi we argue that if documentary theory maintains objectivity as the primary measure of value, it will inevitably and continuously arrive at the conclusion that the documentary genre is fundamentally flawed. Instead, we propose to move beyond the ‘realist epistemology’ of documentary theory and focus on the ‘documentary real’, i.e. the specific performativity of the reality constructed in and by the documentary genre. In the last paragraphs, we introduce the various articles that address the “documentary real” in this special issue.     

A common variant associated with prostate cancer in European and African populations

With the increasing incidence of prostate cancer, identifying common genetic variants that confer risk of the disease is important. Here we report such a variant on chromosome 8q24, a region initially identified through a study of Icelandic families. Allele -8 of the microsatellite DG8S737 was associated with prostate cancer in three case-control series of European ancestry from Iceland, Sweden and the US. The estimated odds ratio (OR) of the allele is 1.62 (P = 2.7 x 10(-11)). About 19% of affected men and 13% of the general population carry at least one copy, yielding a population attributable risk (PAR) of approximately 8%. The association was also replicated in an African American case-control group with a similar OR, in which 41% of affected individuals and 30% of the population are carriers. This leads to a greater estimated PAR (16%) that may contribute to higher incidence of prostate cancer in African American men than in men of European ancestry.     

Mesenchymal–epithelial interactions during digestive tract development and epithelial stem cell regeneration

The gastrointestinal tract develops from a simple and uniform tube into a complex organ with specific differentiation patterns along the anterior–posterior and dorso-ventral axes of asymmetry. It is derived from all three germ layers and their cross-talk is important for the regulated development of fetal and adult gastrointestinal structures and organs. Signals from the adjacent mesoderm are essential for the morphogenesis of the overlying epithelium. These mesenchymal–epithelial interactions govern the development and regionalization of the different gastrointestinal epithelia and involve most of the key morphogens and signaling pathways, such as the Hedgehog, BMPs, Notch, WNT, HOX, SOX and FOXF cascades. Moreover, the mechanisms underlying mesenchyme differentiation into smooth muscle cells influence the regionalization of the gastrointestinal epithelium through interactions with the enteric nervous system. In the neonatal and adult gastrointestinal tract, mesenchymal–epithelial interactions are essential for the maintenance of the epithelial regionalization and digestive epithelial homeostasis. Disruption of these interactions is also associated with bowel dysfunction potentially leading to epithelial tumor development. In this review, we will discuss various aspects of the mesenchymal–epithelial interactions observed during digestive epithelium development and differentiation and also during epithelial stem cell regeneration.     

Updating the mechanisms of common fragile site instability: how to reconcile the different views?

Common fragile sites (CFSs) are large chromosomal regions long identified by conventional cytogenetics as sequences prone to breakage in cells subjected to replication stress. The interest in CFSs came from their key role in the formation of DNA damage, resulting in chromosomal rearrangements. The instability of CFSs was notably correlated with the appearance of genome instability in precancerous lesions and during tumor progression. Identification of the molecular mechanisms responsible for their instability therefore represents a major challenge. A number of data show that breaks result from mitotic entry before replication completion but the mechanisms responsible for such delayed replication of CFSs and relaxed checkpoint surveillance are still debated. In addition, clues to the molecular events leading to breakage just start to emerge. We present here the results of recent reports addressing these questions.     

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses (ARCI), to carry out a genome-wide association study. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family.     

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.     

白洋淀轮虫群落结构及富营养化评价

于2018年5月(春)、8月(夏)和10月(秋)对白洋淀26个采样点轮虫物种组成和群落结构进行了系统调查,测定了水温(WT)、溶解氧(DO)、pH值、水深(WD)、透明度(Tr)、总氮(TN)、总磷(TP)、叶绿素a(Chla)等环境因子,分析了轮虫群落参数与环境因子的关系,综合评价了白洋淀水体富营养化程度.共鉴定出轮虫21属61种,以耐污性种类为主,角突臂尾轮虫、萼花臂尾轮虫和小多肢轮虫为优势种.各采样点轮虫种数差异较大,最多为20种(聚龙淀),最少仅为6种(大麦淀).轮虫平均丰度和生物量呈现明显的季节变化,秋季最高(3 372 ind./L,0.90 mg/L),夏季其次(1 240 ind./L,0.88 mg/L),春季最低(210 ind./L,0.22 mg/L);轮虫最高丰度为6 930 ind./L(三角淀,秋季),最低仅为2 ind./L(平阳淀,夏季).Shannon-Wiener多样性指数(H')和Pielou均匀度指数(J)夏季最高(分别为2.30和0.86).经相关性分析发现,轮虫丰度与DO、WD、Chla、TP呈显著正相关,而与Tr显著负相关;轮虫种数与WD显著正相关,与WT显著负相关.与历史资料相比,白洋淀水质在一定程度有所好转,但仍处于富营养化状态.     

水平井筒流体变质量流动压力梯度模型

建立了水平井筒油藏流体从管壁流入时孔眼段流体压力梯度模型 ,讨论了井筒有效管壁摩擦系数对流体压力梯度的影响。在此基础上 ,建立了同时考虑井筒流体流动和油藏渗流的井筒油藏耦合模型 ,该模型将Dikken模型中沿整个水平段单位长度生产指数为常数的假定进行了推广。在给定条件下对压力降模型进行了讨论 ,计算了单个孔眼段的压力损失。计算结果表明 ,水平井段较长或产量较高时 ,水平段流体压力降比较明显。     

钢纤维高强混凝土抗冲击性能的数值仿真

采用显式动力有限元软件LS-DYNA,对钢纤维高强混凝土的霍普金森压杆冲击试验过程进行了数值仿真,混凝土和霍普金森压杆的本构关系分别采用弹塑性流体动力模型和虎克定律描述,钢纤维的增强与增韧作用则通过钢纤维高强混凝土强度与失效应变来体现.结果表明:试件内部应力趋近于均匀之前,经历了初始状态的应力震荡;试件的破坏稍微滞后于应力峰值;相同的冲击速度下,钢纤维高强混凝土试件各个时刻的破坏程度轻于未掺钢纤维的基体混凝土试件,当基体混凝土试件裂成多块时,钢纤维高强混凝土试件还基本保持整体.数值仿真结果与试验结果有较好的相似性,基本能够反映出试件受力与破坏的特征.