Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH

Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis has previously been mapped to chromosome 5pl5. We have identified a mutation in the ANKH gene that segregates with the disease in a family with this condition. ANKH encodes a putative transmembrane inorganic pyrophosphate (PPi) transport channel. We postulate that loss of function of ANKH causes elevated extracellular PPi levels, predisposing to CPPD crystal deposition.

Genetic factors in the pathogenesis of CPPD crystal deposition disease

Crystal deposition is a very complex process ruled by numerous factors. A small but important proportion of cases of chondrocalcinosis are monogenic, and many of the genes involved have been identified. These genetic findings strongly point to control of the level of extracellular inorganic pyrophosphate as the primary mechanism for their association with either calcium pyrophosphate dihydrate or hydroxyapatite deposition. However, effects on extracellular inorganic pyrophosphate levels do not explain the mechanism of association in all of these monogenic diseases. Further, there are likely to be several as yet unidentified genes that are important in this common condition. This review highlights what genetic studies have demonstrated about the processes involved in these diverse but related disorders.

Postglacial Early Permian (late Sakmarian-early Artinskian) shallow-marine carbonate deposition along a 2000 km transect from Timor to west Australia

Late Sakmarian to early Artinskian (Early Permian) carbonate deposition was widespread in the marine intracratonic rift basins that extended into the interior of Eastern Gondwana from Timor in the north to the northern Perth Basin in the south. These basins spanned about 20° of paleolatitude (approximately 35°S to 55°S). This study describes the type section of the Maubisse Limestone in Timor-Leste, and compares this unit with carbonate sections in the Canning Basin (Nura Nura Member of the Poole Sandstone), the Southern Carnarvon Basin (Callytharra Formation) and the northern Perth Basin (Fossil Cliff Member of the Holmwood Shale). The carbonate units have no glacial influence and formed part of a major depositional cycle that, in the southern basins, overlies glacially influenced strata and lies a short distance below mudstone containing marine fossils and scattered dropstones (perhaps indicative of sea ice). In the south marine conditions became more restricted and were replaced by coal measures at the top of the depositional sequence. In the north, the carbonate deposits are possibly bryozoan–crinoidal mounds; whereas in the southern basins they form laterally continuous relatively thin beds, deposited on a very low-gradient seafloor, at the tops of shale–limestone parasequences that thicken upward in parasequence sets. All marine deposition within the sequence took place under very shallow (inner neritic) conditions, and the limestones have similar grain composition. Bryozoan and crinoidal debris dominate the grain assemblages and brachiopod shell fragments, foraminifera and ostracod valves are usually common. Tubiphytes ranged as far south as the Southern Carnarvon Basin, albeit rarely, but is more common to the north. Gastropod and bivalve shell debris, echinoid spines, solitary rugose corals and trilobite carapace elements are rare. The uniformity of the grain assemblage and the lack of tropical elements such as larger fusulinid foraminifera, colonial corals or dasycladacean algae indicate temperate marine conditions with only a small increase in temperature to the north. The depositional cycle containing the studied carbonate deposits represents a warmer phase than the preceding glacially influenced Asselian to early Sakmarian interval and the subsequent cool phase of the “mid” Artinskian that is followed by significant warming during the late Artinskian–early Kungurian. The timing of cooler and warmer intervals in the west Australian basins seems out-of-phase with the eastern Australian succession, but this may be a problem of chronostratigraphic miscorrelation due to endemic faunas and palynofloras.

Nitrogen-doped graphene films from chemical vapor deposition of pyridine: Influence of process parameters on the electrical and optical properties

Graphene films were produced by chemical vapor deposition (CVD) of pyridine on copper substrates. Pyridine-CVD is expected to lead to doped graphene by the insertion of nitrogen atoms in the growing sp2 carbon lattice, possibly improving the properties of graphene as a transparent conductive film. We here report on the influence that the CVD parameters (i.e., temperature and gas flow) have on the morphology, transmittance, and electrical conductivity of the graphene films grown with pyridine. A temperature range between 930 and 1070 °C was explored and the results were compared to those of pristine graphene grown by ethanol-CVD under the same process conditions. The films were characterized by atomic force microscopy, Raman and X-ray photoemission spectroscopy. The optical transmittance and electrical conductivity of the films were measured to evaluate their performance as transparent conductive electrodes. Graphene films grown by pyridine reached an electrical conductivity of 14.3 × 105 S/m. Such a high conductivity seems to be associated with the electronic doping induced by substitutional nitrogen atoms. In particular, at 930 °C the nitrogen/carbon ratio of pyridine-grown graphene reaches 3%, and its electrical conductivity is 40% higher than that of pristine graphene grown from ethanol-CVD.

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

We report a genome-wide association study for open-angle glaucoma (OAG) blindness using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 controls. We identified associated loci at TMCO1 (rs4656461[G] odds ratio (OR) = 1.68, P = 6.1 × 10-10) and CDKN2B-AS1 (rs4977756[A] OR = 1.50, P = 4.7 × 10-9). We replicated these associations in an independent cohort of cases with advanced OAG (rs4656461 P = 0.010; rs4977756 P = 0.042) and two additional cohorts of less severe OAG (rs4656461 combined discovery and replication P = 6.00 × 10-14, OR = 1.51, 95% CI 1.35-1.68; rs4977756 combined P = 1.35 × 10-14, OR = 1.39, 95% CI 1.28-1.51). We show retinal expression of genes at both loci in human ocular tissues. We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma. © 2011 Nature America, Inc. All rights reserved.

Genetic studies of disorders of calcium crystal deposition

In summary, although many factors are likely to be involved in regulating calcification and ossification processes, studies of the causation of articular chondrocalcinosis and disorders of spinal ossification, such as DISH and OPLL, implicate control over inorganic pyrophosphate levels as being one of the most important factors in their aetiopathogenesis. The findings of these studies may prove relevant to other rheumatic diseases in which ectopic ossification occurs, such as AS.

Small-angle neutron scattering study of micellar structures of dimeric surfactants

Dimeric or gemini surfactants consist of two hydrophobic chains and two hydrophilic head groups co; valently connected by a hydrocarbon spacer. Small-angle neutron scattering measurements from bis-cationic C16H33N+(CH3)(2)-(CH2)(m)-N+(CH3)(2)C(16)H(33)2Br(-) dimeric surfactants, referred to-as 16-m-16, for different length of hydrocarbon spacers m-3-6, 8, 10, and 12, are reported. The measurements have been carried out at various concentrations: C=2.5 and 10 mM for all m and C=30 and 50 mM for m greater than or equal to 5. It is found that micellar structure depends on the length of the spacer. Micelles are disks for m=3, cylindrical for m=4, and prolate ellipsoidals for other values of m. These structural results are in agreement with the theoretical predictions based on the packing parameter. It has also been observed that conformation of the spacer and the hydrophobic chains in the interior of the micelle change as the length of the spacer is increased. The concentration dependence for m greater than or equal to 5 shows that the effect of surfactant concentration on the size of the micelle is more pronounced for m=5 and 12 than for the intermediate spacers. The fractional charge on the micelle increases with the increase in spacer length and decreases when the concentration is increased.

Growth and electron effective mass measurements of strained Si and Si0.94Ge0.06 on relaxed Si0.62Ge0.38 buffers grown by rapid thermal chemical vapor deposition

Abstract: We report the growth and the electron cyclotron resonance measurements of n-type Si/Si0.62Ge0.38 and Si0.94Ge0.06/Si0.62Ge0.38 modulation-doped heterostructures grown by rapid thermal chemical vapor deposition. The strained Si and Si0.94Ge0.06 channels were grown on relaxed Si0.62Ge0.38 buffer layers, which consist of 0.6 mu m uniform Si0.62Ge0.38 layers and 0.5 mu m compositionally graded relaxed SiGe layers from 0 to 38% Ge. The buffer layers were annealed at 800 degrees C for 1 h to obtain complete relaxation. A 75 Angstrom Si(SiGe) channel with a 100 Angstrom spacer and a 300 Angstrom 2 X 10(19) cm(-3) n-type supply layer was grown on the top of the buffer layers. The cross-sectional transmission electron microscope reveals that the dense dislocation network is confined to the buffer layer, and relatively few dislocations terminate on the surface. The plan-view image indicates the threading dislocation density is about 4 X 10(6) cm(-2). The far-infrared measurements of electron cyclotron resonance were performed at 4 K with the magnetic field of 4-8 T. The effective masses determined from the slope of the center frequency of the absorption peak versus applied magnetic field plot are 0.203m(0) and 0.193m(0) for the two dimensional electron gases in the Si and Si0.94Ge0.06 channels, respectively. The Si effective mass is very close to that of a two dimensional electron gas in an Si MOSFET (0.198m(0)). The electron effective mass of Si0.94Ge0.06 is reported for the first time and is about 5% lower than that of pure Si.

Evidence of clustering in an aqueous electrolyte solution: a small-angle X-ray scattering study

The work reported hen was motivated by a desire to verify the existence of structure - specifically MP-rich clusters induced by sodium bromide (NaBr) in the ternary liquid mixture 3-methylpyridine (Mf) + water(W) + NaBr. We present small-angle X-ray scattering (SAXS) measurements in this mixture. These measurements were obtained at room temperature (similar to 298 K) in the one-phase region (below the relevant lower consolute points, T(L)s) at different values of X (i.e., X = 0.02 - 0.17), where X is the weight fraction of NaBr in the mixture. Cluster-size distribution, estimated on the assumption that the clusters are spherical, shows systematic behaviour in that the peak of the distribution shifts rewards larger values of cluster radius as X increases. The largest spatial extent of the clusters (similar to 4.5 nm) is seen at X = 0.17. Data analysis assuming arbitrary shapes and sizes of clusters gives a limiting value of cluster size (- 4.5 nm) that is not very sensitive to X. It is suggested that the cluster size determined may not be the same as the usual critical-point fluctuations far removed from the critical point (T-L). The influence of the additional length scale due to clustering is discussed from the standpoint of crossover from Ising to mean-field critical behaviour, when moving away from the T-L.

The functional liminality of the not-dead-yet students, or, how public schooling became compulsory: A glancing history

This paper redefines the focus for narrating histories of education in the USA through a ‘glancing history’. It highlights the important role played by ‘not-dead-yet students’ who occupied a liminal place on the scale of life in late nineteenth- and early twentieth-century. Traditional histories of education have been more singularly focused on the advent and dynamics of public schooling, ignoring the functionality of such child subjects to public schooling’s existence. This paper argues that public schools as historical objects cannot be understood outside of a broader trinary system of prior institutions that were established for ‘delinquent’ and ‘special’ children. These prior institutions facilitated the formation of ‘the public’ in public schooling less in opposition to ‘the private’ and more in consonance with ‘the human’. The existence of prior institutions enabled the enforcement of compulsory attendance legislation. Compulsory attendance legislation, in place across all existing states by 1918, was concerned more with the conditions for exclusion and exemption than with compelling attendance. Thus, at the most immediate level, this paper historicizes some of the discursive and hence institutional events that linked an array of tutelary complexes by the early 1900s, and which enabled such legislation. This part of the argument extends the notion of institution to consider broader places of confinement and systematicity. It examines the prior practice of reservation and slavery systems, and the efficacy they lent to further institutionalized segregation in the USA. At a second level, the narrative reflects on how such a narration has become possible. It considers how histories of education can currently be rethought and rewritten around the notion of dis/ability, historicizing the formation of dis/ability as identity categories made noticeable in part (and circularly) through the crystallization of a segregated but linked common schooling system. The paper thus provides a counter-memory against dominant economic foundationalist and psychomedical accounts of schooling’s past. It documents both ‘external’ conditions of possibility for public schooling’s emergence and ‘internal’ effects that emerged through the experiences of confinement

Site-controlled growth of Ge nanostructures on Si(100) via pulsed laser deposition nanostenciling

The authors combine nanostenciling and pulsed laser deposition to patterngermanium(Ge)nanostructures into desired architectures. They have analyzed the evolution of the Ge morphology with coverage. Following the formation of a wetting layer within each area defined by the stencil’s apertures, Gegrowth becomes three dimensional and the size and number of Ge nanocrystals evolve with coverage. Micro-Raman spectroscopy shows that the deposits are crystalline and epitaxial. This approach is promising for the parallel patterning of semiconductor nanostructures for optoelectronic applications.

Modified Stranski–Krastanov growth in Ge/Si heterostructures via nanostenciled pulsed laser deposition

The combination of nanostenciling with pulsed laser deposition (PLD) provides a flexible, fast approach for patterning the growth of Ge on Si. Within each stencilled site, the morphological evolution of the Ge structures with deposition follows a modified Stranski–Krastanov (SK) growth mode. By systematically varying the PLD parameters (laser repetition rate and number of pulses) on two different substrate orientations (111 and 100), we have observed corresponding changes in growth morphology, strain and elemental composition using scanning electron microscopy, atomic force microscopy and μ-Raman spectroscopy. The growth behaviour is well predicted within a classical SK scheme, although the Si(100) growth exhibits significant relaxation and ripening with increasing coverage. Other novel aspects of the growth include the increased thickness of the wetting layer and the kinetic control of Si/Ge intermixing via the PLD repetition rate.

Studies on the target conditioning for deposition of $LiCoO_{2}$ films

Deposition of good quality thin films of Lithium Cobalt Oxide (LiCoO2), by sputtering is preceded by target conditioning, which dictates the surface composition, morphology and electrochemical performance of the deposited film. Sputtering from a Virgin target surface, results in films with excess of the more reactive elements. The concentration of these reactive elements in the films decreases until the system reaches a steady state after sufficient sputtering from the target. This paper discusses the deposition kinetics in terms of target conditioning of LiCoO2. The composition, morphology and texturing of deposited film during various hours of sputtering were analyzed using X-ray photoelectron Spectroscopy (XPS) and Field Emission Scanning electron microscopy (FESEM). The compositional stability is not observed in the films formed during the initial hours or Sputtering from the fresh target, which becomes stable after several hours of sputtering. The Li and Co concentration in the Films deposited subsequently is found to be varying and possible causes are discussed. After the compositional stability is reached, electrochemical analysis of LiCoO2 thin films was performed, which shows a discharge capacity of 129 mu Ah/cm(2).

Dynamic analysis of small signal voltage instability decoupled from angle instability

This paper presents a methodology for dynamic analysis of short term small signal voltage instability in a multi-machine power system. The formulation of the problem is done by decoupling the angle instability from the voltage instability. The method is based on the incremental reactive current flow network (IRCFN), where the incremental reactive current injection at each bus is related to the incremental voltage magnitude at all the buses. Small signal stability using the eigenvalue analysis is illustrated utilizing a single-machine load bus (SMLB) and three-machine system examples. The role of a static var compensator (SVC) at the load bus is also examined.

The Influence of Processing Parameters on Characteristics of an Aluminum Alloy Spray Deposition

In the present investigation, two nozzle configurations are used for spray deposition, convergent nozzle (nozzle-A), and convergent nozzle with 2 mm parallel portion attached at its end (nozzle-C) without changing the exit area. First, the conditions for subambient aspiration pressure, i.e., pressure at the tip of the melt delivery tube, are established by varying the protrusion length of the melt delivery tube at different applied gas pressures for both of the nozzles. Using these conditions, spray deposits in a reproducible manner are successfully obtained for 7075 Al alloy. The effect of applied gas pressure, flight distance, and nozzle configuration on various characteristics of spray deposition, viz., yield, melt flow rate, and gas-to-metal ratio, is examined. The over-spray powder is also characterized with respect to powder size distribution, shape, and microstructure. Some of the results are explained with the help of numerical analysis presented in an earlier article.