Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

PURPOSE The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy research. Our long-term goal is to explore the genetic basis of epilepsies in one such population, the Gypsies. The aim of this report is the clinical and genetic characterization of a Gypsy family with a partial epilepsy syndrome. METHODS Clinical information was collected using semistructured interviews with affected subjects and informants. At least one interictal electroencephalography (EEG) recording was performed for each patient and previous data obtained from records. Neuroimaging included structural magnetic resonance imaging (MRI). Linkage and haplotype analysis was performed using the Illumina IVb Linkage Panel, supplemented with highly informative microsatellites in linked regions and Affymetrix SNP 5.0 array data. RESULTS We observed an early-onset partial epilepsy syndrome with seizure semiology strongly suggestive of temporal lobe epilepsy (TLE), with mild intellectual deficit co-occurring in a large proportion of the patients. Psychiatric morbidity was common in the extended pedigree but did not cosegregate with epilepsy. Linkage analysis definitively excluded previously reported loci, and identified a novel locus on 5q31.3-q32 with an logarithm of the odds (LOD) score of 3 corresponding to the expected maximum in this family. DISCUSSION The syndrome can be classified as familial temporal lobe epilepsy (FTLE) or possibly a new syndrome with mild intellectual deficit. The linked 5q region does not contain any ion channel-encoding genes and is thus likely to contribute new knowledge about epilepsy pathogenesis. Identification of the mutation in this family and in additional patients will define the full phenotypic spectrum.

Homology between jacalin and artocarpin from jackfruit (Artocarpus integrifolia) seeds. Partial sequence and preliminary crystallographic studies of artocarpin

Jacalin and artocarpin, the two lectins from jackfruit (Artocarpus integrifolia) seeds, have different physicochemical properties and carbohydrate-binding specificities. However, comparison of the partial amino-acid sequence of artocarpin with the known sequence of jacalin indicates close to 50% sequence identity. Artocarpin crystallizes in two forms, both monoclinic P2(1), with one and two tetramic molecules, respectively, in the asymmetric units of form I (a = 69.9, b = 73.7, c = 60.6 Angstrom and beta = 95.1 degrees) and form II (a = 87.6, b = 72.2, c = 92.6 Angstrom and beta = 101.1 degrees). Both the crystal structures have been solved by the molecular replacement method using the known structure of jacalin as the search model and ope of them partially refined, confirming that the two lectins are indeed homologous.

Oxidation of aqueous sulfur dioxide catalyzed by poly-4-vinylpyridine-Cu(II) complex. Part 1: Homogeneous phase oxidation

The oxidation of aqueous sulfur dioxide in the presence of polymer-supported copper(II) catalyst is also accompanied by homogeneous oxidation of aqueous sulfur dioxide catalyzed by leached copper(II) ions. Aqueous phase oxidation of sulfur dioxide of low concentrations by oxygen in the presence of dissolved copper(II) has therefore been studied. The solubility of SO2 in aqueous solutions is not affected by the concentration of copper(II) in the solution. In the oxidation reaction, only HSO3- is the reactive S(IV) species. Based on this observation a rate model which also incorporates the effect of sulfuric acid on the solubility of SO2 is developed. The rate model includes a power-law type term for the rate of homogeneous phase reaction obtained from a proposed free-radical chain mechanism for the oxidation. Experiments are conducted at various levels of concentrations of SO2 and O-2 in the gas phase and Cu(II) in the liquid phase. The observed orders are one in each of O-2, Cu(II) and HSO3-. This suggests a first-order termination of the free radicals of bisulfite ions.

Highly efficient C-8 oxidation of substituted xanthines with substitution at the 1-, 3-, and 7- positions using biocatalysts

A bacterial consortium consisting of strains belongings to the genus Klebsiella and Rhodococcus quantitatively converts 1-, 3- and 7-substituted xanthines to their respective 8-oxo compounds.

High Oxygen Storage Capacity and High Rates of CO Oxidation and NO Reduction Catalytic Properties of Ce1-xSnxO2 and Ce0.78Sn0.2Pd0.02O2-delta

Ce1-xSnxO2 (x = 0.1-0.5) solid solution and its Pd substituted analogue have been prepared by a single step solution combustion method using tin oxalate precursor. The compounds were characterized by X-ray diffraction (XRD), X-ray photoelectron spectroscopy (XPS), transmission electron microscopy (TEM), and H-2/temperature programmed redution (TPR) studies. The cubic fluorite structure remained intact up to 50% of Sri substitution in CeO2, and the compounds were stable up to 700 C. Oxygen storage capacity of Ce1-xSnxO2 was found to be much higher than that of Ce1-xZrxO2 due to accessible Ce4+/Ce3+ and Sn4+/Sn2+ redox couples at temperatures between 200 and 400 C. Pd 21 ions in Ce0.78Sn0.2Pd0.02O2-delta are highly ionic, and the lattice oxygen of this catalyst is highly labile, leading to low temperature CO to CO2 conversion. The rate of CO oxidation was 2 mu mol g(-1) s(-1) at 50 degrees C. NO reduction by CO with 70% N-2 selectivity was observed at similar to 200 degrees C and 100% N-2 selectivity below 260 degrees C with 1000-5000 ppm NO. Thus, Pd2+ ion substituted Ce1-xSnxO2 is a superior catalyst compared to Pd2+ ions in CeO2, Ce1-xZrxO2, and Ce1-xTixO2 for low temperature exhaust applications due to the involvement of the Sn2+/Sn4+ redox couple along with Pd2+/Pd-0 and Ce4+/Ce3+ couples.

Requirement Of A Diperoxovanadate-Derived Intermediate for the Interdependent Oxidation Of Vanadyl And Nadh

Oxygen release accompanying oxidation of vanadyl by diperoxovanadate was suppressed on addition of NADH. The added NADH was rapidly oxidized, oxygen in the medium was consumed, and the reaction terminated on exhaustion of either NADH or vanadyl. The consumption of oxygen and disappearance of NADH needed small concentrations of diperoxovanadate to initiate and increased with increase in the concentration of vanadyl and NADH or decrease of pH. The products of the reaction were found to be NAD(+) from NADH and vanadate oligomers from vanadyl and oxygen. The reaction was insensitive to catalase and was not dependent on H2O2. The reaction was inhibited by superoxide dismutase, cytochrome c, EDTA, Mn2+, histidine, and DMPO, but not by hydroxyl radical scavengers such as ethanol and benzoate, The ESR spectrum of the reaction mixture showed the presence of the 1:2:2:1 quartet signal typical of a DMPO-OH adduct, but this was not modified by ethanol, This oxygen radical species, possibly of (OV)-O-. type derived from diperoxovanadate, is proposed to have a role in the reactions of oxygen release and NADH oxidation

Synergy between tribo-oxidation and strain rate response on governing the dry sliding wear behavior of titanium.

The present work provides an insight into the dry sliding wear behavior of titanium based on synergy between tribo-oxidation and strain rate response. Pin-on-disc tribometer was used to characterize the friction and wear behavior of titanium pin in sliding contact with polycrystalline alumina disk under ambient and vacuum condition. The sliding speed was varied from 0.01 to 1.4 ms(-1), normal load was varied from 15.3 to 76 N and with a sliding distance of 1500 m. It was seen that dry sliding wear behavior of titanium was governed by combination of tribo-oxidation and strain rate response in near surface region of titanium. Strain rate response of titanium was recorded by conducting uni-axial compression tests at constant true strain rate of 100 s(-1) in the temperature range from 298 to 873 K. Coefficient of friction and wear rate were reduced with increased sliding speed from 0.01 to 1.0 ms(-1). This is attributed to the formation of in situ self lubricating oxide film (TiO) and reduction in the intensity of adiabatic shear band cracking in the near surface region. This trend was confirmed by performing series of dry sliding tests under vacuum condition of 2 x 10(-4) Torr. Characterization tools such as optical microscopy, scanning electron microscopy, and X-ray diffractometer provided evidence of such processes. These experimental findings can be applied to enhance the dry sliding wear behavior of titanium with proper choice of operating conditions such as sliding speed, normal load, and environment.

Partial discharges at low pressures in a dielectric interface between uniform field electrodes

Partial discharges in a gaseous interface due to the presence of a dielectric between two uniform field electrodes in air at different pressures from 0.5 to 685 mm Hg have been studied and measurements of inception and extinction voltages, number of pulses and their charge magnitudes at inception are reported. It has been observed that the extinction voltage can be as low as 70% of the inception voltage suggesting that the working voltage in such cases should be about 30% lower than the observed inception voltage. Small magnitude pulses are found to be more in number than large magnitude pulses. The charge is found to be pressure dependent. The results have been explained on the basis of an equivalent circuit consisting of resistance and capacitance in which the discharge gap functions as a switch.

Partial Loss Of Support And Frame-Soil Interaction

An interaction analysis has been conducted to study the effects of a local loss of support beneath the beam footing of a two-bay plane frame. The results of the study indicate that the magnitude of increase in the bending moment and axial force in the structure due to the presence of a void are dependent, not only on the extent of support loss, but also on the relative stiffnesses between foundation beam and soil, and between superstructure and soil. The increase in bending moment even for a void span of 1/12 of the foundation beam length can become so significant as to exceed the safety provisions. The study shows that the effect of a void on the superstructure moments can be greatly minimized by a combination of rigid foundation and flexible superstructure.

Low PAPR Square STBCs from Complex Partial-Orthogonal Designs (CPODs)

Space-time codes from complex orthogonal designs (CODs) with no zero entries offer low Peak to Average Power Ratio (PAPR) and avoid the problem of switching off antennas. But square CODs for 2(a) antennas with a + 1. complex variables, with no zero entries were discovered only for a <= 3 and if a + 1 = 2(k), for k >= 4. In this paper, a method of obtaining no zero entry (NZE) square designs, called Complex Partial-Orthogonal Designs (CPODs), for 2(a+1) antennas whenever a certain type of NZE code exists for 2(a) antennas is presented. Then, starting from a so constructed NZE CPOD for n = 2(a+1) antennas, a construction procedure is given to obtain NZE CPODs for 2n antennas, successively. Compared to the CODs, CPODs have slightly more ML decoding complexity for rectangular QAM constellations and the same ML decoding complexity for other complex constellations. Using the recently constructed NZE CODs for 8 antennas our method leads to NZE CPODs for 16 antennas. The class of CPODs do not offer full-diversity for all complex constellations. For the NZE CPODs presented in the paper, conditions on the signal sets which will guarantee full-diversity are identified. Simulation results show that bit error performance of our codes is same as that of the CODs under average power constraint and superior to CODs under peak power constraint.

Partial intervertebral fusion secures successful outcomes after thoracoscopic anterior scoliosis correction: A low-dose computed tomography study

Study Design Retrospective review of prospectively collected data. Objectives To analyze intervertebral (IV) fusion after thoracoscopic anterior spinal fusion (TASF) and explore the relationship between fusion scores and key clinical variables. Summary of Background Information TASF provides comparable correction with some advantages over posterior approaches but reported mechanical complications, and their relationship to non-union and graft material is unclear. Similarly, the optimal combination of graft type and implant stiffness for effecting successful radiologic union remains undetermined. Methods A subset of patients from a large single-center series who had TASF for progressive scoliosis underwent low-dose computed tomographic scans 2 years after surgery. The IV fusion mass in the disc space was assessed using the 4-point Sucato scale, where 1 indicates <50% and 4 indicates 100% bony fusion of the disc space. The effects of rod diameter, rod material, graft type, fusion level, and mechanical complications on fusion scores were assessed. Results Forty-three patients with right thoracic major curves (mean age 14.9 years) participated in the study. Mean fusion scores for patient subgroups ranged from 1.0 (IV levels with rod fractures) to 2.2 (4.5-mm rod with allograft), with scores tending to decrease with increasing rod size and stiffness. Graft type (autograft vs. allograft) did not affect fusion scores. Fusion scores were highest in the middle levels of the rod construct (mean 2.52), dropping off by 20% to 30% toward the upper and lower extremities of the rod. IV levels where a rod fractured had lower overall mean fusion scores compared to levels without a fracture. Mean total Scoliosis Research Society (SRS) questionnaire scores were 98.9 from a possible total of 120, indicating a good level of patient satisfaction. Conclusions Results suggest that 100% radiologic fusion of the entire disc space is not necessary for successful clinical outcomes following thoracoscopic anterior selective thoracic fusion.

Phylogeography of the pharaoh cuttle Sepia pharaonis based on partial mitochondrial 16S sequence data

The pharaoh cuttle Sepia pharaonis Ehrenberg, 1831 (Mollusca: Cephalopoda: Sepiida) is a broadly distributed species of substantial fisheries importance found from east Africa to southern Japan. Little is known about S. pharaonis phylogeography, but evidence from morphology and reproductive biology suggests that Sepia pharaonis is actually a complex of at least three species. To evaluate this possibility, we collected tissue samples from Sepia pharaonis from throughout its range. Phylogenetic analyses of partial mitochondrial 16S sequences from these samples reveal five distinct clades: a Gulf of Aden/Red Sea clade, a northern Australia clade, a Persian Gulf/Arabian Sea clade, a western Pacific clade (Gulf of Thailand and Taiwan) and an India/Andaman Sea clade. Phylogenetic analyses including several Sepia species show that S. pharaonis sensu lato may not be monophyletic. We suggest that "S. pharaonis" may consist of up to five species, but additional data will be required to fully clarify relationships within the S. pharaonis complex.

Mechanism of oxidation of α,β-unsaturated thiones by singlet oxygen

Photo-oxidation of α,β-unsaturated thiones yields the corresponding ketones as the only product. Studies carried out on three systems, namely thioketones, α,β-unsaturated thiones and thioketenes, have revealed that there exists a similarity in their mechanism of oxidation. It has been suggested that the thiocarbonyl chromophore is the site of attack by singlet oxygen in α,β-unsaturated thiones and that the adjacent C-C double bond is inert under these conditions. Absence of sulphine during the oxidation of α,β-unsaturated thiones is attributed to the electronic factors operating on the zwitterionic/diradical intermediate. While α,β-unsaturated ketones are poorly reactive, α,β-unsaturated thiones are highly reactive toward singlet oxygen.

Characterisation of humidity dependence of a metal oxide semiconductor (MOS) sensor array using Partial Least Squares (PLS)

Metal oxide semiconductor (MOS) sensors are a class of chemical sensor that have potential for being a practical core sensor module for an electronic nose system in various environmental monitoring applications. However, the responses of these sensors may be affected by changes in humidity and this must be taken into consideration when developing calibration models. This paper characterises the humidity dependence of a sensor array which consists of 12 MOS sensors. The results were used to develop calibration models using partial least squares. Effects of humidity on the response of the sensor array and predictive ability of partial least squares are discussed. It is shown that partial least squares can provide proper calibration models to compensate for effects caused by changes in humidity.