DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions

The challenge of Duchenne muscular dystrophy (DMD) carrier identification resides in the ability to identify the presence of a mutant gene over the background contributed by the normal allele. Current diagnosis of carrier status when a deletion has been identified in a proband is based on an analysis of a gene dosage. We present a diagnostic strategy that uses fluorescence in situ hybridization (FISH) to detect female carriers with major deletions in the dystrophin gene. We screened a human X-chromosome-derived genomic library with a full-length dystrophin cDNA and isolated 15 dystrophin-specific cosmids that contain DMD gene exons. Six cosmids were further tested as FISH probes in control individuals and subsequently applied on chromosomes from eight males with DMD and known deletions and on samples from three female carriers. As expected, X chromosomes in normal females displayed four signals, two for the DMD-specific probe and two for the X-chromosome centromeric probe. Hybridization on chromosomal spreads from carriers of deletions revealed only one signal from the DMD-specific probe and two from the control centromeric probe. Males carrying deletions showed no DMD-specific signal for the deleted exons tested. Our data indicate that FISH could represent an alternative method for the detection of female carriers with DMD gene deletions.     

It's the genes! EST access to human genome content

ESTs or 'expressed sequence tags' are DNA sequences read from both ends of expressed gene fragments. The Merck-WashU EST Project and several other public EST projects are being performed to rapidly discover the complement of human genes, and make them easily accessible. These ESTs are widely used to discover novel members of gene families, to map genes to chromosomes as 'sequence-tagged sites' (STSs), and to identify mutations leading to heritable diseases. Informatic strategies for querying the EST databases are discussed, as well as the strengths and weaknesses of the EST data. There is a compelling need to build on the informatic synthesis of human gene data, and to devise facile methods for determining gene functions.     

Nicotine withdrawal in chippers and regular smokers: Subjective and cognitive effects.

From previous studies, chippers (very light, long-time cigarette smokers) seem not to be nicotine dependent, despite decades of smoking. The effect of tobacco deprivation on chippers' withdrawal reactions was examined. Matched groups of 26 chippers and 25 regular smokers were studied while abstaining or smoking for 2-day blocks, with assessments administered 5 times daily by palm-top computers. As hypothesized, chippers showed no changes as a result of nicotine deprivation. In contrast, regular smokers demonstrated distinct changes in craving, mood, arousal, and sleep disturbance. The computers also tested participants' cognitive performance. Unlike chippers, regular smokers' performance on complex tasks was slower under deprivation; the effect could not be explained by changes in motor performance or simple reaction time. Results suggest performance may have been improved by nicotine rather than worsened by withdrawal. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

In situ polymerization and nano‐templating phenomenon in nylon fiber/PMMA composite laminates

Supercritical Carbon Dioxide (SC CO₂) is used as a reaction/processing medium in the fabrication of fiber‐reinforced composite materials. SC CO₂ allows resin (reactive monomer), to penetrate inside the fibers themselves, partitioning into the amorphous regions of the fiber. The crystal structure then templates polymerization of matrix within the fiber. This process produces a composite that exhibits ultralong‐range order from the nanoscale reinforcement of crystals to the macroscale fiber reinforcement of matrix. In addition, SC CO₂ lowers resin viscosity and aids in wetting out Nylon 6,6 fiber reinforcement in a process similar to reaction injection molding (RIM) or resin transfer molding (RTM). This article will discuss the fabrication technique in detail, including process parameters and the structure of resulting composites and morphology of modified fibers. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 1600–1607, 2003     

Biomic river restoration: A new focus for river management

River management based solely on physical science has proven to be unsustainable and unsuccessful, evidenced by the fact that the problems this approach intended to solve (e.g., flood hazards, water scarcity, and channel instability) have not been solved and long‐term deterioration in river environments has reduced the capacity of rivers to continue meeting the needs of society. In response, there has been a paradigm shift in management over the past few decades, towards river restoration. But the ecological, morphological, and societal benefits of river restoration have, on the whole, been disappointing. We believe that this stems from the fact that restoration overrelies on the same physical analyses and approaches, with flowing water still regarded as the universally predominant driver of channel form and structural intervention seen as essential to influencing fluvial processes. We argue that if river restoration is to reverse long‐standing declines in river functions, it is necessary to recognize the influence of biology on river forms and processes and re‐envisage what it means to restore a river. This entails shifting the focus of river restoration from designing and constructing stable channels that mimic natural forms to reconnecting streams within balanced and healthy biomes, and so levering the power of biology to influence river processes. We define this new approach as biomic river restoration.     

Target coverage in camera networks for manufacturing workplaces

In this paper, we investigate the camera network placement problem for target coverage in manufacturing workplaces. The problem is formulated to find the minimum number of cameras of different types and their best configurations to maximise the coverage of the monitored workplace such that the given set of target points of interest are each k-covered with a predefined minimum spatial resolution. Since the problem is NP-complete, and even NP-hard to approximate, a novel method based on Simulated Annealing is presented to solve the optimisation problem. A new neighbourhood generation function is proposed to handle the discrete nature of the problem. The visual coverage is modelled using realistic and coherent assumptions of camera intrinsic and extrinsic parameters making it suitable for many real world camera based applications. Task-specific quality of coverage measure is proposed to assist selecting the best among the set of camera network placements with equal coverage. A 3D CAD of the monitored space is used to examine physical occlusions of target points. The results show the accuracy, efficiency and scalability of the presented solution method; which can be applied effectively in the design of practical camera networks.     

Scientific productivity paradox: The case of China's S&T system

Summary In 1985 China began the reform of its Science & Technology (S&T) sector inherited from the planned economy. To disclose the impact of the drawn-out reform on the efficiency of the whole sector, we measure the scientific productivity of China's S&T institutes. The analysis is based on R&D input and output data at the country aggregate and provincial level. We utilize Polynomial Distributed Lag model to uncover the structure of the lag between R&D input and output. The findings reveal that the growth rate of scientific productivity of China's S&T institutes has been negative since the 1990s.     

Fix-and-Relax-Coordination for a multi-period location–allocation problem under uncertainty

A multi-period discrete facility location problem is introduced for a risk neutral strategy with uncertainty in the costs and some of the requirements along the planning horizon. A compact 0–1 formulation for the Deterministic Equivalent Model of the problem under two alternative strategies for the location decisions is presented. Furthermore, a new algorithmic matheuristic, Fix-and-Relax-Coordination, is introduced. This solution scheme is based on a specialization of the Branch-and-Fix Coordination methodology, which exploits the Nonanticipativity Constraints and uses the Twin Node Family concept. The results of an extensive computational experience allow to compare the alternative modeling strategies and assess the effectiveness of the proposed approach versus the plain use of a state-of-the-art MIP solver.     

Improving Implicit Stochastic Reservoir Optimization Models with Long-Term Mean Inflow Forecast

This technical note introduces a reservoir operation model based on implicit stochastic optimization (ISO) in which the release policy is guided by the forecast of the mean inflow for a given future horizon rather than by the prediction of the current-month inflow, such as in typical ISO models. The model also does not require the forecast of all inflows for the future horizon and shows to be more efficient in finding less vulnerable release policies when compared to several other explicit and implicit stochastic procedures.