Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome

The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar syndrome (ES). The diagnosis of ES in both families was made on the basis of published clinical features. Blood samples were collected from members of both families and used in genomic DNA isolation. The entire coding regions and intron-exon junctions of the ES gene CHRNG (cholinergic receptor, nicotinic, gamma), and two other related genes, CHRND and CHRNA1, were amplified and sequenced to search for mutations in both families. Both families show a typical form of ES. Sequencing of the entire coding regions including the intron-exon junctions of the three genes did not yield any mutations in these families. In conclusion, it is possible that the mutations in these genes are located in the promoter or deep intronic regions that we failed to identify or the ES in these families is caused by mutations in a different gene. The lack of mutations in CHRNG has also been reported in several families, suggesting the possibility of at least one more gene for this syndrome. Clin Dysmorphol 22:54-58 (C) 2013 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

An efficient hybrid approach for design of automotive wheel bearings

Wheel bearings play a crucial role in the mobility of a vehicle by minimizing motive power loss and providing stability in cornering maneuvers. Detailed engineering analysis of a wheel bearing subsystem under dynamic conditions poses enormous challenges due to the nonlinearity of the problem caused by multiple factional contacts between rotating and stationary parts and difficulties in prediction of dynamic loads that wheels are subject to. Commonly used design methodologies are based on equivalent static analysis of ball or roller bearings in which the latter elements may even be represented with springs. In the present study, an advanced hybrid approach is suggested for realistic dynamic analysis of wheel bearings by combining lumped parameter and finite element modeling techniques. A validated lumped parameter representation serves as an efficient tool for the prediction of radial wheel load due to ground reaction which is then used in detailed finite element analysis that automatically accounts for contact forces in an explicit formulation.

Surface morphology, optical properties and conductivity changes of poly(3,4-ethylenedioxythiophene): poly(styrenesulfonate) by using additives

The optical properties and electrical conductivity of highly conducting poly(3,4-ethylenedioxythiophene) (PEDOT) doped with poly(styrenesulfonate) (PSS) are reported as a function of the processing additive conditions. The addition of dimethyl sulfoxide (DMSO) increases the conductivity and modifies the dielectric response as observed from the ellipsometric studies. Also the surface roughness and morphology change with the composition of PEDOT: PSS: DMSO and film deposition conditions. The real part of the dielectric function becomes negative in highly conducting samples, indicating the presence of delocalized charge carriers. The real and imaginary parts of the refractive index were determined as a function of wavelength. The results are consistent with the increase in conductivity upon the addition of DMSO.

Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature

Purpose: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene. Methods: Peripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation. PCR primers were used to amplify the entire coding region including intron-exon junctions of SLC4A11. Amplicons were subsequently sequenced to identify the mutations. Results: DNA sequence analysis of the six families identified four novel (viz., p.Thr262Ile, p.Gly417Arg, p.Cys611Arg, and p.His724Asp) mutations and one known p.Arg869His homozygous mutation in the SLC4A11 gene. The mutation p.Gly417Arg was identified in two families. Conclusions: This study increases the mutation spectrum of the SLC4A11 gene. A review of the literature showed that the total number of mutations in the SLC4A11 gene described to date is 78. Most of the mutations are missense, followed by insertions-deletions. The present study will be helpful in genetic diagnosis of the families reported here.

Role of the Ribosomal P-Site Elements of m(2)G966, m(5)C967, and the S9 C-Terminal Tail in Maintenance of the Reading Frame during Translational Elongation in Escherichia coli

The ribosomal P-site hosts the peptidyl-tRNAs during translation elongation. Which P-site elements support these tRNA species to maintain codon-anticodon interactions has remained unclear. We investigated the effects of P-site features of methylations of G966, C967, and the conserved C-terminal tail sequence of Ser, Lys, and Arg (SKR) of the S9 ribosomal protein in maintenance of the translational reading frame of an mRNA. We generated Escherichia coli strains deleted for the SKR sequence in S9 ribosomal protein, RsmB (which methylates C967), and RsmD (which methylates G966) and used them to translate LacZ from its +1 and -1 out-of-frame constructs. We show that the S9 SKR tail prevents both the +1 and -1 frameshifts and plays a general role in holding the P-site tRNA/peptidyl-tRNA in place. In contrast, the G966 and C967 methylations did not make a direct contribution to the maintenance of the translational frame of an mRNA. However, deletion of rsmB in the S9 Delta 3 background caused significantly increased -1 frameshifting at 37 degrees C. Interestingly, the effects of the deficiency of C967 methylation were annulled when the E. coli strain was grown at 30 degrees C, supporting its context-dependent role.

A note on new indices for the equatorial Indian Ocean oscillation

It is now well known that there is a strong association of the extremes of the Indian summer monsoon rainfall (ISMR) with the El Nio and southern oscillation (ENSO) and the Equatorial Indian Ocean Oscillation (EQUINOO), later being an east-west oscillation in convection anomaly over the equatorial Indian Ocean. So far, the index used for EQUINOO is EQWIN, which is based on the surface zonal wind over the central equatorial Indian Ocean. Since the most important attribute of EQUINOO is the oscillation in convection/precipitation, we believe that the indices based on convection or precipitation would be more appropriate. Continuous and reliable data on outgoing longwave radiation (OLR), and satellite derived precipitation are now available from 1979 onwards. Hence, in this paper, we introduce new indices for EQUINOO, based on the difference in the anomaly of OLR/precipitation between eastern and western parts of the equatorial Indian Ocean. We show that the strong association of extremes of the Indian summer monsoon with ENSO and EQUINOO is also seen when the new indices are used to represent EQUINOO.

Photocytotoxicity of copper(II) complexes of curcumin and N-ferrocenylmethyl-L-amino acids

Copper(II) complexes Cu(Fc-aa)(cur)] (1-3) of curcumin (Hcur) and N-ferrocenylmethyl-L-amino acids (Fc-aa), viz., ferrocenylmethyl-L-tyrosine (Fc-TyrH), ferrocenylmethyl-L-tryptophan (Fc-TrpH) and ferrocenylmethyl-L-methionine (Fc-MetH), were prepared and characterized. The DNA photocleavage activity, photocytotoxicity and cellular localization in HeLa and MCF-7 cancer cells of these complexes were studied. Acetylacetonate (acac) complexes Cu(Fc-aa)(acac)] (4-6) were prepared and used as controls. The chemical nuclease inactive complexes showed efficient pUC19 DNA cleavage activity in visible light. Complexes 1-3 showed high photocytotoxicity with low dark toxicity thus giving remarkable photodynamic effect. FACScan analysis showed apoptosis of the cancer cells. Fluorescence microscopic studies revealed primarily cytosolic localization of the complexes. (C) 2013 Elsevier Masson SAS. All rights reserved.

Subject independent human action recognition using spatio-depth information and meta-cognitive RBF network

In this paper, we present a machine learning approach for subject independent human action recognition using depth camera, emphasizing the importance of depth in recognition of actions. The proposed approach uses the flow information of all 3 dimensions to classify an action. In our approach, we have obtained the 2-D optical flow and used it along with the depth image to obtain the depth flow (Z motion vectors). The obtained flow captures the dynamics of the actions in space time. Feature vectors are obtained by averaging the 3-D motion over a grid laid over the silhouette in a hierarchical fashion. These hierarchical fine to coarse windows capture the motion dynamics of the object at various scales. The extracted features are used to train a Meta-cognitive Radial Basis Function Network (McRBFN) that uses a Projection Based Learning (PBL) algorithm, referred to as PBL-McRBFN, henceforth. PBL-McRBFN begins with zero hidden neurons and builds the network based on the best human learning strategy, namely, self-regulated learning in a meta-cognitive environment. When a sample is used for learning, PBLMcRBFN uses the sample overlapping conditions, and a projection based learning algorithm to estimate the parameters of the network. The performance of PBL-McRBFN is compared to that of a Support Vector Machine (SVM) and Extreme Learning Machine (ELM) classifiers with representation of every person and action in the training and testing datasets. Performance study shows that PBL-McRBFN outperforms these classifiers in recognizing actions in 3-D. Further, a subject-independent study is conducted by leave-one-subject-out strategy and its generalization performance is tested. It is observed from the subject-independent study that McRBFN is capable of generalizing actions accurately. The performance of the proposed approach is benchmarked with Video Analytics Lab (VAL) dataset and Berkeley Multimodal Human Action Database (MHAD). (C) 2013 Elsevier Ltd. All rights reserved.

Seismic hazard analysis of Lucknow considering local and active seismic gaps

The Himalayas are one of very active seismic regions in the world where devastating earthquakes of 1803 Bihar-Nepal, 1897 Shillong, 1905 Kangra, 1934 Bihar-Nepal, 1950 Assam and 2011 Sikkim were reported. Several researchers highlighted central seismic gap based on the stress accumulation in central part of Himalaya and the non-occurrence of earthquake between 1905 Kangra and 1934 Bihar-Nepal. The region has potential of producing great seismic event in the near future. As a result of this seismic gap, all regions which fall adjacent to the active Himalayan region are under high possible seismic hazard due to future earthquakes in the Himalayan region. In this study, the study area of the Lucknow urban centre which lies within 350 km from the central seismic gap has been considered for detailed assessment of seismic hazard. The city of Lucknow also lies close to Lucknow-Faizabad fault having a seismic gap of 350 years. Considering the possible seismic gap in the Himalayan region and also the seismic gap in Lucknow-Faizabad fault, the seismic hazard of Lucknow has been studied based on deterministic and the probabilistic seismic hazard analysis. Results obtained show that the northern and western parts of Lucknow are found to have a peak ground acceleration of 0.11-0.13 g, which is 1.6- to 2.0-fold higher than the seismic hazard compared to the other parts of Lucknow.

Morphological and electrochemical characterization of electrodeposited Zn-Ag nanoparticle composite coatings

Silver nanoparticles with an average size of 23 nm were chemically synthesized and used to fabricate Zn-Ag composite coatings. The Zn-Ag composite coatings were generated by electrodeposition method using a simple sulfate plating bath dispersed with 0.5, land 1.5 g/l of Ag nanoparticles. Scanning electron microscopy, X-ray diffraction and texture co-efficient calculations revealed that Ag nanoparticles appreciably influenced the morphology, micro-structure and texture of the deposit. It was also noticed that agglomerates of Ag nanopartides, in the case of high bath load conditions, produced defects and dislocations on the deposit surface. Ag nanoparticles altered the corrosion resistance property of Zn-Ag composite coatings as observed from Tafel polarization, electrochemical impedance analysis and an immersion test. Reduction in corrosion rate with increased charge transfer resistance was observed for Zn-Ag composite coatings when compared to a pure Zn coating. However, the particle concentration in the plating bath and their agglomeration state directly influenced the surface morphology and the subsequent corrosion behavior of the deposits. (C) 2013 Elsevier Inc. All rights reserved.

Dielectric Function of Undoped and Doped Poly2-methoxy-5-(3 `,7 `-dimethyloctyloxy)-1,4-phenylene-vinylene] by Ellipsometry in a Wide Spectral Range

Ellipsometric measurements in a wide spectral range (from 0.05 to 6.5 eV) have been carried out on the organic semiconducting polymer, poly2-methoxy-5-(3',7'-dimethyloctyloxy)-1,4-phenylene-vinylene] (MDMO-PPV), in both undoped and doped states. The real and imaginary parts of the dielectric function and the refractive index are determined accurately, provided that the layer thickness is measured independently. After doping, the optical properties show the presence of new peaks, which could be well-resolved by spectroscopic ellipsometry. Also for the doped material, the complex refractive index, with respect to the dielectric function, has been determined. The broadening of the optical transitions is due to the delocalization of polarons at higher doping level. The detailed information about the dielectric function as well as refractive index function obtained by spectroscopic ellipsometry allows not only qualitative but also quantitative description of the optical properties of the undoped/doped polymer. For the direct characterization of the optical properties of MDMO-PPV, ellipsometry turns out to be advantageous compared to conventional reflection and transmission measurements.

Adiabatic Eigenfunction Based Approach to Coherent Transfer: Application to the Fenna-Matthews-Olson (FMO) Complex and the Role of Correlations in the Efficiency of Energy Transfer

We have recently suggested a method (Pallavi Bhattacharyya and K. L. Sebastian, Physical Review E 2013, 87, 062712) for the analysis of coherence in finite-level systems that are coupled to the surroundings and used it to study the process of energy transfer in the Fenna-Matthews-Olson (FMO) complex. The method makes use of adiabatic eigenstates of the Hamiltonian, with a subsequent transformation of the Hamiltonian into a form where the terms responsible for decoherence and population relaxation could be separated out at the lowest order. Thus one can account for decoherence nonperturbatively, and a Markovian type of master equation could be used for evaluating the population relaxation. In this paper, we apply this method to a two-level system as well as to a seven-level system. Comparisons with exact numerical results show that the method works quite well and is in good agreement with numerical calculations. The technique can be applied with ease to systems with larger numbers of levels as well. We also investigate how the presence of correlations among the bath degrees of freedom of the different bacteriochlorophyll a molecules of the FMO Complex affect the rate of energy transfer. Surprisingly, in the cases that we studied, our calculations suggest that the presence of anticorrelations, in contrast to correlations, make the excitation transfer more facile.

Dielectric relaxation and anti-ferromagnetic coupling of BiEu03 and BiGd03

BiEuO3 (BE) and BiGdO3 (BG) are synthesized by the solid-state reaction technique. Rietveld refinement of the X-ray diffraction data shows that the samples are crystallized in cubic phase at room temperature having Fm3m symmetry with the lattice parameters of 5.4925(2) and 5.4712(2) A for BE and BG, respectively. Raman spectra of the samples are investigated to obtain the phonon modes of the samples. The dielectric properties of the samples are investigated in the frequency range from 42 Hz to 1.1 MHz and in the temperature range from 303 K to 673 K. An analysis of the real and imaginary parts of impedance is performed assuming a distribution of relaxation times as confirmed by the Cole-Cole plots. The frequency-dependent maxima in the loss tangent are found to obey an Arrhenius law with activation energy similar to 1 eV for both the samples. The frequency-dependent electrical data are also analyzed in the framework of conductivity formalism. Magnetization of the samples are measured under the field cooled (EC) and zero field cooled (ZFC) modes in the temperature range from 5 K to 300 K applying a magnetic Field of 500 Oe. The FC and ZFC susceptibilities show that BE is a Van Vleck paramagnetic material with antiferromagnetic coupling at low temperature whereas BG is an anti-ferromagnetic system. The results are substantiated by the M-11 loops of the materials taken at 5 K in the ZFC mode. (C) 2014 Elsevier B.V. All rights reserved

Cryptic species and Miocene diversification of Palaearctic naked-toed geckos (Squamata: Gekkonidae) in the Indian dry zone

We sampled Palaearctic naked-toed geckos from across their range in India and used two mitochondrial and two nuclear genes to reconstruct relationships within a global phylogeny. Published sequences of Peninsular Indian Hemidactylus allow us to contrast these two groups in dating analyses - providing insights into the history of the Indian dry zone. Palaearctic naked-toed geckos first moved onto the Indian Plate in the Oligocene, with higher-level diversification probably linked to collision of the Indian and Eurasian plates, and subsequent dispersal into-India and diversification with increasing Miocene aridity. An independent gekkonid radiation with species in the dry zone, Hemidactylus diversified during the same period in Peninsular India. Our results demonstrate that dry zone taxa across India may date back to at least the Miocene, with a potential historical climatic barrier between the Indus and Peninsular Indian Divisions. `Cyrtopodion' aravallense is revealed to be a complex with seven genetically and environmentally divergent lineages that began diversifying in the late Miocene, congruent with increased aridity in north-western India. This discovery of cryptic diversity in the Indian dry zone represents the first terrestrial vertebrate radiation from north-western central India and highlights how little we understand of the regions' biodiversity, emphasizing the need for systematic geographic sampling and multiline evidence to reveal true patterns of diversity. The ancestor of `Cyrtopodion' aravallense came into the nascent Indian dry zone in the Miocene and has since diversified, potentially in the absence of any sympatric scansorial rupicolous geckos. Cyrtopodion scabrum represents a unique case of commensalism and shows phylogeographic structure in its presumed native range. The taxonomic implications of our study include a number of undescribed species, recognition of `Cyrtopodion' as a distinct lineage and the non-monophyly of Altiphylax.

Oxovanadium(IV) complexes of curcumin for cellular imaging and mitochondria targeted photocytotoxicity

Oxovanadium(IV) complexes VO(R-tpy)(cur)](ClO4) (1, 2) of curcumin (Hcur) and terpyridine ligands (R-tpy) where R is phenyl (phtpy in 1) or p-triphenylphosphonium methylphenyl bromide (C6H4CH2PPh3Br) (TPP-phtpy in 2) were prepared and characterized and their DNA photocleavage activity, photocytotoxicity and cellular localization in cancer cells (HeLa and MCF-7) were studied. Acetylacetonate (acac) complexes VO(R-tpy)(acac)](ClO4) of phtpy (3) and TPP-phtpy (4) were prepared and used as the control species. These complexes showed efficient cleavage of pUC19 DNA in visible light of 454 nm and near-IR light of 705 rim. Complexes 1 and 2 showed significant photocytotoxicity in visible light of 400-700 nm. FACS analysis showed sub-G1/G0 phase cell-cycle arrest in cancer cells when treated with 1 and 2 in visible light in comparison with the dark controls. Fluorescence microscopic studies revealed specific localization of the p-triphenylphosphonium complex 2 in the mitochondria of MCF-7 cancer cells whereas no such specificity was observed for complex 1.