Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and mental retardation. It is genetically heterogeneous with seven loci: MCPH1-MCPH7. We have previously reported genetic analysis of 35 families, including the identification of the MCPH7 gene STIL. Of the 35 families, three families showed linkage to the MCPH2 locus. Recent whole-exome sequencing studies have shown that the WDR62 gene, located in the MCPH2 candidate region, is mutated in patients with severe brain malformations. We therefore sequenced the WDR62 gene in our MCPH2 families and identified two novel homozygous protein truncating mutations in two families. Affected individuals in the two families had pachygyria, microlissencephaly, band heterotopias, gyral thickening, and dysplastic cortex. Using immunofluorescence study, we showed that, as with other MCPH proteins, WDR62 localizes to centrosomes in A549, HepG2, and HaCaT cells. In addition, WDR62 was also localized to nucleoli. Bioinformatics analysis predicted two overlapping nuclear localization signals and multiple WD-40 repeats in WDR62. Two other groups have also recently identified WDR62 mutations in MCPH2 families. Our results therefore add further evidence that WDR62 is the MCPH2 gene. The present findings will be helpful in genetic diagnosis of patients linked to the MCPH2 locus.

Nanostructuration via solid state transformation as a strategy for improving the thermoelectric efficiency of PbTe alloys

The approach taken in this paper in order to modify the scattering features of electrons and phonons and improve the figure of merit (ZT) of thermoelectric PbTe is to alter the microstructure at constant chemistry. A lamellar pattern of PbTe/GeTe at the nano- and microscale was produced in Pb(0.36)Ge(0.64)Te alloy by the diffusional decomposition of a supersaturated solid solution. The mechanism of nanostructuration is most likely a discontinuous spinodal decomposition. A simple model relating the interface velocity to the observed lamellar spacing is proposed. The effects of nanostructuration in Pb(0.36)Ge(0.64)Te alloy on the electrical and thermal conductivity, thermopower and ZT were investigated. It was shown that nanostructuration through the formation of a lamellar pattern of PbTe/GeTe is unlikely to provide a significant improvement due to the occurrence of discontinuous coarsening. However, the present study allows an analysis of possible strategies to improve thermoelectric materials via optimal design of the microstructure and optimized heat treatment. (C) 2011 Acta Materialia Inc. Published by Elsevier Ltd. All rights reserved.

Characterization of Clean and Fouled Rail Track Ballast Subsurface Using Seismic Surface Survey Method: Model and Field Studies

The efficiency of track foundation material gradually decreases due to insufficient lateral confinement, ballast fouling, and loss of shear strength of the subsurface soil under cyclic loading. This paper presents characterization of rail track subsurface to identify ballast fouling and subsurface layers shear wave velocity using seismic survey. Seismic surface wave method of multi-channel analysis of surface wave (MASW) has been carried out in the model track and field track for finding out shear wave velocity of the clean and fouled ballast and track subsurface. The shear wave velocity (SWV) of fouled ballast increases with increase in fouling percentage, and reaches a maximum value and then decreases. This character is similar to typical compaction curve of soil, which is used to define optimum and critical fouling percentage (OFP and CFP). Critical fouling percentage of 15 % is noticed for Coal fouled ballast and 25 % is noticed for clayey sand fouled ballast. Coal fouled ballast reaches the OFP and CFP before clayey sand fouled ballast. Fouling of ballast reduces voids in ballast and there by decreases the drainage. Combined plot of permeability and SWV with percentage of fouling shows that after critical fouling point drainage condition of fouled ballast goes below acceptable limit. Shear wave velocities are measured in the selected location in the Wollongong field track by carrying out similar seismic survey. In-situ samples were collected and degrees of fouling were measured. Field SWV values are more than that of the model track SWV values for the same degree of fouling, which might be due to sleeper's confinement. This article also highlights the ballast gradation widely followed in different countries and presents the comparison of Indian ballast gradation with international gradation standards. Indian ballast contains a coarser particle size when compared to other countries. The upper limit of Indian gradation curve matches with lower limit of ballast gradation curves of America and Australia. The ballast gradation followed by Indian railways is poorly graded and more favorable for the drainage conditions. Indian ballast engineering needs extensive research to improve presents track conditions.

Fuel Cell Efficiency Redefined; Carnot Limit Reassessed

There are deficiencies in current definition of thermodynamic efficiency of fuel cells (ηcth = ΔG/ΔH); efficiency greater than unity is obtained when AS for the cell reaction is positive, and negative efficiency is obtained for endothermic reactions. The origin of the flow is identified. A new definition of thennodynamic efficiency is proposed that overcomes these limitations. Consequences of the new definition are examined. Against the conventional view that fuel cells are not Carnot limited, several recent articles have argued that the second law of thermodynamics restricts fuel cell energy conversion in the same way as heat engines. This controversy is critically examined. A resolution is achieved in part from an understanding of the contextual assumptions in the different approaches and in part from identifying some conceptual limitations.

Specification Based Regression Testing Using Explicit State Space Enumeration

This paper presents a method of partial automation of specification based regression testing, which we call ESSE (Explicit State Space Enumeration). The first step in ESSE method is the extraction of a finite state model of the system making use of an already tested version of the system under test (SUT). Thereafter, the finite state model thus obtained is used to compute good test sequences that can be used to regression test subsequent versions of the system. We present two new algorithms for test sequence computation - both based on our finite state model generated by the above method. We also provide the details and results of the experimental evaluation of ESSE method. Comparison with a practically used random-testing algorithm has shown substantial improvements.

Evaluation of 2D image reconstruction using fan-beam FBP algorithm with no backprojection weight from WLP completed truncated projection data

This paper presents the image reconstruction using the fan-beam filtered backprojection (FBP) algorithm with no backprojection weight from windowed linear prediction (WLP) completed truncated projection data. The image reconstruction from truncated projections aims to reconstruct the object accurately from the available limited projection data. Due to the incomplete projection data, the reconstructed image contains truncation artifacts which extends into the region of interest (ROI) making the reconstructed image unsuitable for further use. Data completion techniques have been shown to be effective in such situations. We use windowed linear prediction technique for projection completion and then use the fan-beam FBP algorithm with no backprojection weight for the 2-D image reconstruction. We evaluate the quality of the reconstructed image using fan-beam FBP algorithm with no backprojection weight after WLP completion.

Unified Spectral Efficiency Analysis of Cellular Systems with Channel-Aware Schedulers

Spectral efficiency is a key characteristic of cellular communications systems, as it quantifies how well the scarce spectrum resource is utilized. It is influenced by the scheduling algorithm as well as the signal and interference statistics, which, in turn, depend on the propagation characteristics. In this paper we derive analytical expressions for the short-term and long-term channel-averaged spectral efficiencies of the round robin, greedy Max-SINR, and proportional fair schedulers, which are popular and cover a wide range of system performance and fairness trade-offs. A unified spectral efficiency analysis is developed to highlight the differences among these schedulers. The analysis is different from previous work in the literature in the following aspects: (i) it does not assume the co-channel interferers to be identically distributed, as is typical in realistic cellular layouts, (ii) it avoids the loose spectral efficiency bounds used in the literature, which only considered the worst case and best case locations of identical co-channel interferers, (iii) it explicitly includes the effect of multi-tier interferers in the cellular layout and uses a more accurate model for handling the total co-channel interference, and (iv) it captures the impact of using small modulation constellation sizes, which are typical of cellular standards. The analytical results are verified using extensive Monte Carlo simulations.

Fluid Mechanics of Aquatic Locomotion at Large Reynolds Numbers

Abstract | There exist a huge range of fish species besides other aquatic organisms like squids and salps that locomote in water at large Reynolds numbers, a regime of flow where inertial forces dominate viscous forces. In the present review, we discuss the fluid mechanics governing the locomotion of such organisms. Most fishes propel themselves by periodic undulatory motions of the body and tail, and the typical classification of their swimming modes is based on the fraction of their body that undergoes such undulatory motions. In the angulliform mode, or the eel type, the entire body undergoes undulatory motions in the form of a travelling wave that goes from head to tail, while in the other extreme case, the thunniform mode, only the rear tail (caudal fin) undergoes lateral oscillations. The thunniform mode of swimming is essentially based on the lift force generated by the airfoil like crosssection of the fish tail as it moves laterally through the water, while the anguilliform mode may be understood using the “reactive theory” of Lighthill. In pulsed jet propulsion, adopted by squids and salps, there are two components to the thrust; the first due to the familiar ejection of momentum and the other due to an over-pressure at the exit plane caused by the unsteadiness of the jet. The flow immediately downstream of the body in all three modes consists of vortex rings; the differentiating point being the vastly different orientations of the vortex rings. However, since all the bodies are self-propelling, the thrust force must be equal to the drag force (at steady speed), implying no net force on the body, and hence the wake or flow downstream must be momentumless. For such bodies, where there is no net force, it is difficult to directly define a propulsion efficiency, although it is possible to use some other very different measures like “cost of transportation” to broadly judge performance.

Biological and materials properties of various cholesterol based systems

Liposomes composed of cationic lipids have become very popular gene delivery vehicles. A great deal of research is being pursued to make efficient vectors by varying their molecular architecture. Cholesterol being ubiquitous component in most of the animal cell membranes is increasingly being used as a hydrophobic segment of synthetic cationic lipids. In this review we describe various cholesterol based cationic lipids and focus on the effect of modifying various structural segments like linker and the head group of the cationic lipids on gene transfection efficiency with a special emphasis on the importance of ether linkage between cholesteryl backbone and the polar head group. Interaction of cationic cholesteryl lipids with dipalmitylphosphatidycholine membranes is also discussed here. Apart from cholesterol being an attractive scaffold in the drug/gene delivery vehicles, certain cholesteryl derivatives have also been shown to be attractive room temperature liquid-crystalline materials.

Bold strategies for Indian science

When an Indian prime minister publicly admits that India has fallen behind China, it is news. Manmohan Singh's statement last January at the Indian Science Congress in Bhubaneswar that this is so with respect to scientific research, and that “India's relative position in the world of science has been declining”, has rung alarm bells. Singh was not springing anything new on Indian scientists; many of us will admit that things are not well1. Recognizing the problem is the first step towards reversing this slide.