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Ore-forming fluids enriched in alkali carbonate are commonly observed in natural melt and fluid inclusions associated with tin mineralization, particularly in granitic pegmatite. However, the roles of alkali carbonates remain unclear. Hence, to investigate the roles of alkali carbonate, herein, cassiterite (SnO2) crystallization experiments in SnO2-Li2CO3-H2O and SnO2-Na2CO3-H2O systems were conducted using a hydrothermal diamond-anvil cell. The results showed that SnO2 could dissolve into the alkali carbonate aqueous solution during heating, and long prismatic cassiterite crystals grew during the subsequent cooling stage at average rates of 0.61 x 10-6 to 8.22 x 10-6 cm/s in length and 3.40-19.07 µm³/s in volume. The mole fraction of cassiterite crystallized from the SnO2-Li2CO3-H2O system ranges from 0.03 to 0.41 mol%, which depends on the Li2CO3 content dissolved in the aqueous solution. In situ Raman analysis of the alkali carbonate-rich aqueous solution in the sample chamber suggests that the dissolution of SnO2 can be attributed to the alkaline conditions produced by hydrolysis of alkali carbonate in which Sn(OH)2-6 may be a potential tin-transporting species. The cassiterite crystallization conditions obtained in our SnO2-alkali carbonate-H[sub 2]O systems primarily fell within the 400-850 °C and 300-850 MPa temperature and pressure ranges, respectively; furthermore, cassiterite crystallization ended in rare metal pegmatite-forming conditions. These crystallization features of cassiterite are similar to those formed in tin-mineralized granitic pegmatites. It indicates that an alkali carbonate-rich aqueous solution or hydrous melt can work as a favorable transport medium for tin and provides the necessary conditions for cassiterite crystallization in granitic pegmatite, bearing the roles in decreasing the viscosity of hydrous melts and enhancing the solubility of SnO2 in ore-forming melts or fluids. These roles of alkali carbonate can also be extended for the mineralization of other rare metals (e.g., Li and Be) in granitic pegmatite. [ABSTRACT FROM AUTHOR]

A new type of HDAC-V hydrothermal diamond anvil cell (HDAC-VT) has been designed to meet the demands of X-ray research including X-Ray Fluorescence, X-ray Absorption Spectroscopy, and small angle X-ray scattering. The earlier version of HDAC-V that offered a large rectangular solid angle used two posts and two driver screws on both sides of a rectangular body. The new version HDAC-VT in a triangular shape has two alternative guide systems, either three posts inserted into bushings suitable for small anvil faces or linear ball bearings suitable for large anvil faces. The HDAC-VT having three driver screws offers the advantage of greater control and stability even though it sacrifices some of the size of solid angle. The greater control allows better sealing of samples, while greater stability results in longer survival for anvils and ceramic parts. This improved design retains several beneficial features of the original HDAC-V as well. These include the small collar that surrounds the heater and sample chamber forming an Ar + H2 gas chamber to protect diamonds and their heating parts from being oxidized. Three linear ball bearings, when used, fit to the three posts prevent seizing that can result from deterioration of lubricant at high temperatures. Positioning the posts and bearings outside of the gas chamber as in HDAC-V also prevents seizing and possible deformation due to overheating. In order to control the heating rate precisely with computer software, we use Linkam T95 and have replaced the Linkam 1400XY heating stage with the HDAC-VT allowing the HDAC to be heated to 950 °C at a rate from 0.01 °C/min to 50 °C/min. We have used the HDAC-VT and Linkam T95 to observe in situ nucleation and growth of zabuyelite in aqueous fluid and to homogenize melt inclusions in quartz from three porphyry deposits in Shanxi, China. [ABSTRACT FROM AUTHOR]

Lithium resources support the development of high-technology industries. China has abundant lithium resources which are mainly distributed in Tibet, Qinghai, Sichuan and Jiangxi. Salt lakes in China have significant lithium reserves, but lithium is mainly produced from hard rock lithium deposits because the extraction from salt lakes requires further improvements. The hard rock lithium deposits mainly occur in granitic pegmatite in the Altay region of Xinjiang and the Jiajika deposit in western Sichuan Province; they mainly formed in the Mesozoic and occurred in a relatively stable stage during orogenic processes. On the basis of the information from 151 lithium deposits or spots, 14 lithium metallogenic series were identified, and granitic pegmatite, granite, and sedimentary types were considered to be the main prediction types of lithium resources. Twelve lithium mineralization belts were divided and a series of maps showing the lithium metallogenetic regularity in China were drawn. We conclude that the hard rock and brine type of lithium resources possibly have a similar lithium source related to magmatism. The metallogenic features of the lithium in China were related with the distinct history of tectonic-magmatic activity in China. This study benefits the assessment of, and prospecting for, lithium resources in China. [ABSTRACT FROM AUTHOR]

Granitic pegmatites are commonly thought to form by fractional crystallization or by liquid immiscibility of granitic magma; however, these proposals are based mainly on analyses of fluid and melt inclusions. Here, we use the Jiajika pegmatite deposit, the largest spodumene deposit in Asia, as a case study to investigate ore forming processes using isotope dating. Daring of a single granite sample from the Jiajika deposit using multiple methods gave a zircon U-Pb SHRIMP age of 208.4 ± 3.9 Ma, an 40Ar/39Ar age for muscovite of 182.9 ± 1.7 Ma, and an 40Ar/39Ar age for biotite of 169.9 ± 1.6 Ma. Based on these dating results and the 40Ar/39Ar age of muscovite from the Jiajika pegmatite, a temperature-time cooling track for the Jiajika granite was constructed using closure temperatures of the different isotope systems. This track indicates that the granite cooled over ∼40 m. y., with segregation of the pegmatite fluid from the granitic magma at a temperature of ∼700°C. This result suggests that the Jiajika pegmatite formed not by fractional crystallization, but by segregation of an immiscible liquid from the granitic magma. When compared with fractional crystallization, the relatively early timing of segregation of an immiscible liquid from a granitic magma can prevent the precipitation of ore-forming elements during crystallization, and suggests that liquid immiscibility could be an important ore-forming process for rare metal pegmatities. We also conclude that isotope dating is a method that can potentially be used to determine the dominant ore-forming processes that occurred during the formation of granite-related ore deposits, and suggest that this method can be employed to determine the formation history of the W-Sn ore deposits found elsewhere within the Nanling Metallogenic Belt. [ABSTRACT FROM AUTHOR]

Abstract: Compositionally graded Pb(Zr,Ti)O3 thin films were prepared on the Pt(111)/Ti/SiO2/Si, LNO/Si(100) and LNO/Pt(111)/Ti/SiO2/Si substrates by a modified sol–gel method and rapid heat-treatment. The composition depth profile of a typical up-graded film was determined using a combination of auger electron spectroscopy and Ar-ion etching. The crystallographic orientation and the microstructure of the resulting graded PZT thin films on the different substrates were characterized by XRD. The dielectric and ferroelectric properties of the graded PZT films were discussed. The graded PZT films on LNO/Pt/Ti/SiO2/Si and LNO/Si(100) substrates have larger dielectric constant and remnant polarizations compared to that grown on Pt/Ti/SiO2/Si substrates. [Copyright &y& Elsevier]

Abstract: The crystalline quality, dielectric and ferroelectricity of the Pb(Zr0.52Ti0.48)O3 (PZT) films deposited on the LaNiO3 (LNO), LNO/Pt and Pt bottom electrodes were comparatively analyzed to investigate the possibility for their application. LNO thin films were successfully prepared on Si (100) and Pt(111)/Ti/SiO2/Si substrates by modified metallorganic decomposition (MOD). The PZT thin films were spin-coated onto the LNO, LNO/Pt and Pt bottom electrodes by sol–gel method. The crystallographic orientation and the microstructure of the resulting LNO films and PZT thin films on the different bottom electrodes were characterized by X-ray diffraction analysis. The dielectric and ferroelectric properties of PZT films on the different bottom electrodes are discussed. The PZT films deposited onto Pt/Ti/SiO2/Si and LNO/Si substrates show strong (110) and (100) preferred orientation, respectively, while the films deposited onto LNO/Pt/Ti/SiO2/Si substrates show the peaks of mixed orientations. PZT films on LNO and LNO/Pt bottom electrodes have larger dielectric constant and remnant polarizations compared with those grown on the Pt electrode. [Copyright &y& Elsevier]

Gold precipitation in hydrothermal systems is traditionally attributed to supersaturation of gold due to decreasing gold complex stability triggered by changes in physicochemical conditions of the ore fluid. However, ultrahigh-grade gold veins in orogenic (shear zone related) gold deposits can contain kilograms per tonne of gold or more, in marked contrast to the typically very low gold concentrations (tens of parts per billion) in fluid. The gold mineral assemblage is commonly restricted to native gold and/or Au-(Ag)-tellurides and occurs in micro-fractures of sheared quartz veins. Textural and compositional characterization of such assemblages, coupled with hydrothermal diamond anvil cell experiments and heating-freezing experiments, provides evidence for an alternative ultrahigh-grade gold enrichment mechanism via growth of polymetallic melt droplets induced by quartz fracturing. We propose that polymetallic melt droplets of Au-Ag-Te-Bi-rich composition form through adsorption-reduction of metal complexes on fractured quartz surfaces, where surface silanol groups and hydrogen serve as reductants. The melt droplets subsequently grow by catalyzing reduction of metal complexes and absorbing metals from fluids percolating in the fractured quartz network. The mobile and reactive polymetallic melt droplets can repeatedly react with the fluid on protracted quartz fracturing and efficiently continue to scavenge gold from multiple pulses of gold-undersaturated ore fluids. [ABSTRACT FROM AUTHOR]

Bio-polymers and bio-surfactants have attracted increasing attention for their application in chemical enhanced oil recovery (EOR) due to the environmental concerns of synthetic chemical agents. Here, a ternary compound system consisted of carboxylic cellulose nanofibrils (CCNF), ethoxylated phytosterol (BPS), and n-pentanol was constructed. The rheological property and interfacial activity of the compound system and the effects of each component at high temperature (80 °C) was investigated systematically. The ternary compound system exhibited excellent performance in thickening, IFT reduction (<10-2mN m-1), emulsification, and better salt tolerance. CBP, the ternary system of CCNF (2000 mg L-1), BPS (2000 mg L-1), and n-pentanol (5000 mg L-1), greatly enhanced the oil recovery (24.3%) in the core flooding tests by its high displacement efficiency and sweep enlargement, which was demonstrated directly in the visual micromodel flooding. As an eco-friendly system with remarkable performance, the compound system of CBP shows great application potential in EOR. [ABSTRACT FROM AUTHOR]

The article explores the ore-forming mechanism of the asikaerte granitic pegmatite beryllium deposit. Topics discussed include role of granitic pegmatite in studying magmatic-hydrothermal evolution, observation of melt and fluid inclusions in the asikaerte deposit and presence of more water in crystal-rich inclusions. Other topics include presence of liquid immiscibility of granitic magma in the asikaerte deposit.

Alagille syndrome (AGS) is a highly variable, autosomal dominant disease that affects multiple structures including the liver, heart, eyes, bones and face. Targeted region capture sequencing focuses on a panel of known pathogenic genes and provides a rapid, cost‑effective and accurate method for molecular diagnosis. In a Chinese family, this method was used on the proband and Sanger sequencing was applied to validate the candidate mutation. A de novo heterozygous mutation (c.3254_3255insT p.Leu1085PhefsX24) of the jagged 1 gene was identified as the potential disease‑causing gene mutation. In conclusion, the present study suggested that target region capture sequencing is an efficient, reliable and accurate approach for the clinical diagnosis of AGS. Furthermore, these results expand on the understanding of the pathogenesis of AGS. [ABSTRACT FROM AUTHOR]

Background: Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a fishy smell. The Monell Chemical Senses Center is a research institute with a program to evaluate people with odor complaints for TMAU. Methods: Here we evaluated ten subjects by (1) odor evaluation by a trained sensory panel, (2) analysis of their urine concentration of TMA relative to TMAO before and after choline ingestion, and (3) whole exome sequencing as well as subsequent variant analysis of all ten samples to investigate the genetics of TMAU. Results: While all subjects reported they often emitted a fish-like odor, none had this malodor during sensory evaluation. However, all were impaired in their ability to produce >90% TMAO/TMA in their urine and thus met the criteria for TMAU. To probe for genetic causes, the exome of each subject was sequenced, and variants were filtered by genes with a known (FMO3) or expected effect on TMA metabolism function (other oxidoreductases). We filtered the remaining variants by allele frequency and predicated functional effects. We identified one subject that had a rare loss-of-function FMO3 variant and six with more common decreased-function variants. In other oxidoreductases genes, five subjects had four novel rare single-nucleotide polymorphisms as well as one rare insertion/deletion. Novel in this context means no investigators have previously linked these variants to TMAU although they are in dbSNP. Conclusions: Thus, variants in genes other than FMO3 may cause TMAU and the genetic variants identified here serve as a starting point for future studies of impaired TMA metabolism. [ABSTRACT FROM AUTHOR]

Telomerase is a ribonucleoprotein enzyme that is necessary for overcoming telomere shortening in human germ and stem cells. Mutations in telomerase or other telomere-maintenance proteins can lead to diseases characterized by depletion of hematopoietic stem cells and bone marrow failure (BMF). Telomerase localization to telomeres requires an interaction with a region on the surface of the telomere-binding protein TPP1 known as the TEL patch. Here, we identify a family with aplastic anemia and other related hematopoietic disorders in which a 1-amino-acid deletion in the TEL patch of TPP1 (AK170) segregates with disease. All family members carrying this mutation, but not those with wild-type TPP1, have short telomeres. When introduced into 293T cells, TPP1 with the AK170 mutation is able to localize to telomeres but fails to recruit telomerase to telomeres, supporting a causal relationship between this TPP1 mutation and bone marrow disorders. ACDTTPP1 is thus a newly identified telomere-related gene in which mutations cause aplastic anemia and related BMF disorders. [ABSTRACT FROM AUTHOR]

Objective: Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated in CHH, while the genetic basis of CDGP is poorly understood. Design: We characterized and compared the genetic architectures of CHH and CDGP, to test the hypothesis of a shared genetic basis between these disorders. Methods: Exome sequencing data were used to identify rare variants in known genes in CHH (n = 116), CDGP (n = 72) and control cohorts (n = 36 874 ExAC and n = 405 CoLaus). Results: Mutations in at least one CHH gene were found in 51% of CHH probands, which is significantly higher than in CDGP (7%, P = 7.6 × 10-11) or controls (18%, P = 5.5 × 10-12). Similarly, oligogenicity (defined as mutations in more than one gene) was common in CHH patients (15%) relative to CDGP (1.4%, P = 0.002) and controls (2%, P = 6.4 × 10-7). Conclusions: Our data suggest that CDGP and CHH have distinct genetic profiles, and this finding may facilitate the differential diagnosis in patients presenting with delayed puberty. [ABSTRACT FROM AUTHOR]

Euodia rutaecarpa is a common traditional Chinese medicine (TCM) in clinical practice, having the ability to suppress pain and cease coughing; however, with the increasing reports showing that it is toxic, particularly hepatotoxic, the concerns raised by what cause its toxicity is growing. In the current study, an analysis method based on the spectrum effect has been employed to screen the major hepatotoxic components in Euodia rutaecarpa so that the toxic material's basis would be elucidated. A fingerprinting method of the Euodia rutaecarpa extracts (which were petroleum ether, chloroform, ethyl acetate, n-butanol, and water) using ultra-high-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometer (UHPLC-QTOF/MS) has been developed. Orthogonal partial least squares (OPLS) was used to establish the spectrum-toxicity relationship with the levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) in mice serum as evaluation indices for liver injury. The UHPLC-MS fingerprint was established and the OPLS analytical results suggested that coniferin, 1-methyl-2-undecyl-4(1H)-quinolone, 1-methyl-2-[(6Z,9Z,12E)-pentadeca triene]-4(1H)-quinolone, evocarpine, 1-methyl-2-[(Z)-7-tridecenyl]-4(1H)-quinolone, dihydroevocarpine, and 1-methyl-2-tetradecy-4-(1H)-quinolone probably associated with the hepatotoxicity of Euodia rutaecarpa. This paper offered considerable methods and insight for the fundamental research of the toxic material basis of similar toxic TCMs. [ABSTRACT FROM AUTHOR]

Background: Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of many cataract patients remain unknown. In this study, the aim is to identify the genetic cause of a five-generation Chinese autosomal dominant congenital cataract family.Methods: Whole exome sequencing (WES) was performed on three affected and one unaffected member of the family, known causative genes were scanned first. Sanger sequencing was used to validate co-segregation of the candidate variant in the family. The impact on the transcript and amino acid sequences of the variant was further analyzed.Results: We identified a novel splice donor site mutation c. 2825+1G >A in EPHA2 that was absent in public and in-house databases and showed co-segregation in the family. This variant resulted in an altered splice that led to protein truncation.Conclusions: The mutation we identified was responsible for congenital cataract in our studied family. Our findings broaden the spectrum of causative mutations in EPHA2 gene for congenital cataract and suggest that WES is an efficient strategy to scan variants in known causative genes for genetically heterogeneous diseases. [ABSTRACT FROM AUTHOR]

China has abundant reserves of magnesite, making it the world's leading source of this strategic mineral. Sparry magnesite is the main type of magnesite deposit, and is easy to exploit. It occurs mainly as the sedimentary-metamorphic type. Production is centred on eastern Liaoning Province, where a world-class large to super large magnesite ore processing and production facility has been developed. Hydrothermal metasomatic deposits, associated with ultramafic complexes and eluvial deposits produced by weathering, are two other important types found in China. The Western section of the Bangonghu-Nujiang metallogenic belt is an important target region for prospecting lake-sedimentary magnesite deposits. Based on a systematic analysis of material from 62 magnesite production areas, this study investigated the metallogeny of magnesite and delineated 13 magnesite metallogenic belts. Maps were produced showing metallogenic regularities in magnesite deposits, the metallogenic system of the magnesite deposits, and the distribution of the metallogenic belts of Chinese magnesite deposits. It provides a theoretical basis for forecasting the location of potential magnesite resources in China. Finally, it explores some key scientific issues, including the formation processes of ultra magnesite ore-concentrated areas, and their sources of magnesium. [ABSTRACT FROM AUTHOR]

Background: Hereditary ataxias are a heterogeneous group of neurodegenerative disorders, where exome sequencing may become an important diagnostic tool to solve clinically or genetically complex cases. Methods: We describe an Italian family in which three sisters were affected by ataxia with postural/intentional myoclonus and involuntary movements at onset, which persisted during the disease. Oculomotor apraxia was absent. Clinical and genetic data did not allow us to exclude autosomal dominant or recessive inheritance and suggest a disease gene. Results: Exome sequencing identified a homozygous c.6292C > T (p.Arg2098*) mutation in SETX and a heterozygous c.346G > A (p.Gly116Arg) mutation in AFG3L2 shared by all three affected individuals. A fourth sister (II.7) had subclinical myoclonic jerks at proximal upper limbs and perioral district, confirmed by electrophysiology, and carried the p.Gly116Arg change. Three siblings were healthy. Pathogenicity prediction and a yeast-functional assay suggested p.Gly116Arg impaired m-AAA (ATPases associated with various cellular activities) complex function. Conclusions: Exome sequencing is a powerful tool in identifying disease genes. We identified an atypical form of Ataxia with Oculoapraxia type 2 (AOA2) with myoclonus at onset associated with the c.6292C > T (p.Arg2098*) homozygous mutation. Because the same genotype was described in six cases from a Tunisian family with a typical AOA2 without myoclonus, we speculate this latter feature is associated with a second mutated gene, namely AFG3L2 (p.Gly116Arg variant). We suggest that variant phenotypes may be due to the combined effect of different mutated genes associated to ataxia or related disorders, that will become more apparent as the costs of exome sequencing progressively will reduce, amplifying its diagnostics use, and meanwhile proposing significant challenges in the interpretation of the data. [ABSTRACT FROM AUTHOR]

Oxidative stress plays an important role in Parkinson's disease and other neurodegenerative disorders. Lycium barbarum polysaccharides (LBP), the main active ingredients extracted from the fruits of Lycium barbarum L., have been shown to be a potent antioxidant. In the present study, we investigated the protective effects, and the possible mechanism of action of LBP against 6-hydroxydopamine (6-OHDA)-induced apoptosis in PC12 cells. Our data demonstrated that LBP significantly reversed the 6-OHDA-induced decrease in cell viability, prevented 6-OHDA-induced changes in condensed nuclei and decreased the percentage of apoptotic cells in a dose-dependent manner. Furthermore, LBP also slowed the accumulation of reactive oxygen species (ROS) and nitric oxide (NO), decreased the level of protein-bound 3-nitrotyrosine (3-NT) and intracellular free Ca2+, and inhibiting the overexpression of nuclear factor κB (NF-κB), neuronal nitric oxide synthase (nNOS) and inducible nitric oxide synthase (iNOS). These results demonstrate that LBP prevents 6-OHDA-induced apoptosis in PC12 cells, at least in part through the ROS-NO pathway. [ABSTRACT FROM AUTHOR]