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Background: Paired-like homodomain transcription factor 3 has been found to be important for the differentiation and survival of midbrain dopaminergic neurons. Methods: To determine whether genetic variation in the coding region of the paired-like homodomain transcription factor 3 gene plays a role in Parkinson's disease, genetic analysis was performed in 112 patients with Parkinson's disease. Results: We did not identify any mutations except rs2281983, but when we extended the analysis of rs2281983 and 2 intron variants (rs4919621 and rs3758549) in 336 patients with Parkinson's disease and 244 controls, we found that rs2281983 and rs4919621 appeared to confer susceptibility to Parkinson's disease, especially in early-onset Parkinson's disease and familial Parkinson's disease. © 2011 Movement Disorder Society

We report a simple method for the fabrication of biomimetic antireflective hierarchical arrays based on the combination of self-assembled polymer spheres and nanoimprint lithography (NIL). The hierarchical structures are fabricated by creating nanopillars on the microscale round protrusion arrays, which are similar to natural mosquito eyes consisting of combined micro- and nanostructures. The hierarchical arrays dramatically suppress the surface reflection from visible to near-infrared regions with an angle of incidence of up to 70°.

PurposeThe purpose of this paper is to study the reliability of SnAgCu solder interconnections under different thermal shock (TS) loading conditions.Design/methodology/approachThe finite element method was employed to study the thermomechanical responses of solder interconnections in TS tests. The stress‐strain analysis was carried out to study the differences between different loading conditions. Crack growth correlations and lifetime predictions were performed.FindingsNew crack growth data and correlation constants for the lifetime prediction model are given. The predicted lifetimes are consistent with the experimental results. The simulation and experimental results indicate that among all the loading conditions studied the TS test with a 14‐min cycle time leads to the earliest failure of the ball‐grid array (BGA) components.Originality/valueThe paper presents new crack growth correlation data and the constants of the lifetime prediction models for SnAgCu solder interconnections, as well as for the BGA components. The paper adds insight into the thermomechanical reliability evaluation of SnAgCu solder interconnections.

An ethanol–water (CH3CH2OH–H2O) system was designed to synthesize α-Bi2O3 microrods by a mild and one-step solvothermal method in the presence of surfactant dodecylamine (C12H27N). X-ray diffractio...

In the present study, an algorithm, combining the Potts model based Monte Carlo (MC) and finite element methods, is developed in order to predict the dynamic recrystallization of tin in tin-rich lead-free solder interconnections during thermal cycling. A correlation between real time and MC simulation time is established. The phenomenon that intermetallic particles provide favorable sites for nucleation of new tin grains in solder matrix is also simulated. It is demonstrated that the present algorithm predicts the incubation period of the recrystallization as well as the growth tendency of the recrystallized regions, in a way consistent with the experimental findings. This quantitative description of the microstructural changes will contribute significantly to the reliability studies of solder interconnections.

The heating processes of the single-layer gold thin film and the two-layer film assembly of gold padded with other metal (silver, copper and nickel) irradiated by femtosecond laser pulse are studied by the two-temperature model. It is found that the substrate metal can change energy transport, which is corresponding to the temperature changing process, and the thermal equilibrium time. Compared with the single-layer gold film at the same laser fluence, the two-layer film structure can change the damage threshold of the gold surface. Our results indicate that we can maximize the damage threshold of the gold film surface by altering the thickness ratio of the gold layer and the substrate layer in the two-layer film assembly.

It is essential to ensure the stability for the normal operation of refrigeration systems. This paper reviews the researches on the theory and solutions of the instability of refrigeration systems. The instability of refrigeration systems includes two aspects: the two-phase flow instability in refrigeration system, the instability on refrigeration system control characteristics. As an inherent characteristic of two-phase evaporating flow, several separate explanations for the formation of oscillation of mixture–vapor transition point in the evaporation process by different scholars had been given but there is no general explanation till now. The investigation of instability on refrigeration system control characteristics focused on both static and dynamic researches. The minimum stable signal line theory, as a very important finding for the static instability of the evaporator and thermal expansion valve control loop, presented the different result to other researches. Dynamic researches on simulation and frequency-domain analysis provided various means for forecast and validation with considerable precision while their application range was still confined. With the development of variable capacity compressor and electronic expansion valve, further researches should be carried out to analyze the instability of the variable capacity refrigeration system with considering the influence of parameter coupling and control algorithm.

Drop reliability of surface mount electronic components is usually studied by drop tests according to the standard (JESD22-B111). The present study assessed the drop reliability of four different component boards. The component boards were tested at elevated temperatures and also simulated via the finite element method. It has been found that temperature had a significant influence on the drop reliability of the component boards. Therefore, numerical experiments were designed to elucidate the temperature effects on the reliability. The simulation results provide convincing explanations for the three failure modes distinguished by the fracture morphologies.

Corrugated silicon nanocone (SiNC) arrays have been fabricated on a silicon wafer by two polystyrene-sphere- monolayer-masked etching steps in order to create high-performance antireflective coatings. The reflectance was reduced from above 35% to less than 0.7% in the range 400-1050 nm, and it remained below 0.5% at incidence angles up to 70° at 632.8 nm for both s- and p-polarized light. The fluorinated corrugated SiNC array surface exhibits superhydrophobic properties with a water contact angle of 164° .

We report a simple and low-cost nonlithographic approach to fabricate tapered silicon arrays for broad-band antireflective coatings. Wafer-scale, subwavelength-structured pyramidal arrays are directly patterned on Si using mixed self-assembled monolayers consisting of octadecyltrichlorosilane islands as KOH etching masks. We have investigated the effects of etching conditions (such as temperature and pH of solution and etching time) on antireflective properties. The reflectivity of Si surfaces can be suppressed to below 3.8% in the waveband of 300−2000 nm. This technique combines the simplicity of self-assembly and cost benefits of chemical etching, which is promising for reducing the manufacturing cost of crystalline silicon solar cells and optical devices.

This paper is on a new device developed to measure the piston stroke length (PSL) of the variable displacement swash plate compressor (VDSC), with which the test bench for the VDSC and test system for automotive air conditioner with VDSC is constructed. The volumetric efficiency, PSL and displacement control, and transient behavior along with air conditioning load or compressor rotary speed are investigated experimentally. The experiment results show that the volumetric efficiency of the VDSC is directly proportional to the PSL due to the constant absolute clearance at different piston stroke lengths. When the air conditioning load keep constant, the PSL and displacement of the VDSC are regulated to meet the air conditioning load at different compressor rotary speeds or vehicle speeds. When the air conditioning load changes gradually, the PSL has a number of small step changes so that the refrigerating capacity of the VDSC can well fit the air conditioning load. When the compressor rotary speed changes abruptly, the piston stroke length, refrigerant mass flow rate, and other parameters change with a very short time delay to ensure a nearly constant refrigerating capacity of compressor.

PurposeThe purpose of this paper is to describe a local melt process of solder bumping employed in electronic packaging applications by an induction heating reflow method, for a combined numerical and experimental study involving a temperature measurement using an infrared thermometer during the reflow process and microstructural observations after reflow, which can be used to control the height and shape of solder interconnects.Design/methodology/approachIn the induction heating reflow process, the temperature distribution within the solder ball during the heating phase is of prime importance for the success of the process and the geometry control quality of final joints. This paper investigates the local melt process of solder balls reflowed onto Cu/Ni/Au pads, and focuses on the effect of the inductive heat on the thermal distribution during the melting process. A finite‐element model is applied to simulate the thermal field in a solder bump during the induction heating period in a reflow process. The effects of the coil current and the electromagnetic frequency on the thermal performance are investigated by using the validated thermal model. The local melt phenomenon in the solder joint is observed and identified by the microstructures taken using scanning electron microscopy.FindingsIn this paper, the numerical results match the experimental results quite well to validate the finite element modeling model. The local melt phenomenon predicted by simulation, and verified by experiments, is demonstrated to be capable of controlling the solder joint shape. Several parametric studies are carried out to understand the effects of different frequencies during assembly, and to suggest that a higher frequency is easier to get a greater temperature gradient, thus a more obvious local melt phenomenon, which is good for achieving the geometry control for solder joints.Originality/valueThe findings of this paper will help to understand the detailed solder bumping process during induction heating reflow and the effects of electromagnetic field frequency on solder joint shape controlling.

A simple approach to wafer-scale self-cleaning antireflective hierarchical silicon structures is demonstrated. By employing the KOH etching and silver catalytic etching, pyramidal hierarchical structures were generated on the crystalline silicon wafer, which exhibit strong antireflection and superhydrophobic properties after fluorination. Furthermore, a flexible superhydrophobic substrate was fabricated by transferring the hierarchical Si structure to the NOA 63 film with UV-assisted imprint lithography. This method is of potential application in optical, optoelectronic, and wettability control devices.

We report a simple bottom-up approach for the fabrication of highly antireflective optical surfaces. The Langmuir−Blodgett (LB) monolayer with domain structures was used as a mask for selective etching of Si in a KOH solution. The obtained pyramidal structures can reduce the reflectivity to less than 6% at the wavelengths from 400 to 2400 nm. This technique combines the simplicity and scalability of self-assembly and cost benefits of chemical etching. These antireflective structures may have potential applications in optical devices and solar cells. Moreover, the reflectivity of polymer materials can also be reduced by transferring the pyramidal structures onto their surfaces via molding and nanoimprint lithography (NIL).

A rapid yet simple methodology to form the solder joints used in electronic packaging has been demonstrated through an induction heating system in this paper. The objective is to control the shapes of the solder joints precisely and form the hourglass-shaped solder joint using local melting phenomenon. For Sn–Ag eutectic solder bullet-shaped solder bumps and hourglass-shaped solder joints can be obtained easily within 2.3 s. The reason for the formation of hourglass-shaped solder joints has been analyzed using different morphologies of Ag 3 Sn intermetallic compound (IMC), and is explained by the non-uniform temperature distribution caused by a local melting phenomenon and skin effect.

A novel lead-free bumping technique using an alternating electromagnetic field (AEF) was investigated. Lead-free solder bumps reflowed onto copper pads through AEF have been achieved. A comparison was conducted between the microstructures of the lead-free solder joints formed by the conventional thermal reflow and AEF reflow. Keeping the substrate temperature lower than that of the solder bumps, AEF reflow successfully created metallurgical bonding between the lead-free solders and metallizations through an interfacial intermetallic compound (IMC). The AEF reflow could be finished in several seconds, much faster than the conventional hot-air reflow. Considering the morphology of the interfacial Cu6Sn5 IMC, a shorter heating time above the melting point would be a better choice for solder joint reliability. The results show that AEF reflow is a promising localized heating soldering technique in electronic packaging.

Purpose – The aim of the paper is to control the height and shape of solder interconnects employed in electronic packaging applications by an induction heating reflow method, which can achieve the solder bumping and interconnecting process in a simple way.Design/methodology/approach – Through the application of a designed induction heating system, a new methodology was forced to exhibit its certain qualities of forming and geometry controlling in the process. The corresponding temperature distribution has been analyzed based on a discussion of skin effects in metal spheres. The local melt phenomenon is observed and identified via the microstructures taken by scanning electron microscope (SEM).Findings – In this work, barrel‐shaped solder joints with high heights and hourglass‐shaped solder joints can be obtained, which is good for improving the solder joint lifetime. The mechanism of solder joint height and shape control, which can be explained by the local melt phenomenon, is discussed and demonstrated v...

The focus of this study was on discussing the novel reflow method ISHR (Induction spontaneous heat reflow) used for high-density area array packaging and assembly. Multi-layer under bump metallization (UBM) and Sn3.5Ag lead-free solder ball were laid in the high frequency electromagnetic field. Because of the induction heating, solder balls melted and spread onto the UBM to form solder bumps. The solder bumps could be formed within 2 seconds through this method; meanwhile, the infrared temperature measurement results showed that the rosin substrate temperature was lower. The shear test indicated that the solder bumps made by ISHR can satisfy the mechanical requirement. Finally, the feasibility experiment was performed to demonstrate the application feasibility of this ISHR technology. Through all these experiments, conclusion can be made that the ISHR as a novel reflow method can be applied in microelectronics packaging.

This paper presents a feasibility study of using eddy current induced heating for the solder reflow of area array packages. With a high frequency electromagnetic field, Sn 3.5% Ag lead-free solder balls were heated to melt and wet the solder pads on an organic substrate. The experimental results showed that such a solder reflow process could be implemented effectively in a wide processing window. With an infrared temperature sensor, it was found that the temperature difference between the solder balls and the FR4 board might reach 80 , indicating a rather localized heating mechanism. In addition, the heating and cooling rates during the soldering were found very high. This is another feature of the induction heating reflow process. It was also found that the generated temperature in the solder balls would depend on the size of the solder balls. This characteristic may be used to perform selective soldering of flip chip BGA packages. Furthermore, the developed soldering process was applied to the board level reflow of actual components. The result verified that the induction heating reflow is a feasible soldering process in actual applications.

Herein, a series of nitrogen-doped ordered mesoporous carbons (NOMCs) with tunable porous structure were synthesized via a hard-template method with a green biological dye as precursor, under various carbonization temperatures (700-1100 °C). Compared with the ordered mesoporous silica-modified and unmodified electrodes, the use of electrodes coated by NOMCs (NOMC-700-NOMC-1100) resulted in enhanced signals and well-resolved oxidation peaks in electrocatalytic sensing of catechol and hydroquinone isomers, attributable to NOMCs' open porous structures and increased edge-plane defect sites on the N-doped carbon skeleton. Electrochemical sensors using NOMC-1000-modified electrode were fabricated and proved feasible in tap water sample analyses. The NOMCs were also used as sorbents for high-pressure CO2 storage. The NOMC with the highest N content exhibits the best CO2 absorption capacities of 800.8 and 387.6 mg/g at 273 and 298 K (30 bar), respectively, which is better than those of other NOMC materials and some recently reported CO2 sorbents with well-ordered 3D porous structures. Moreover, this NOMC shows higher affinity for CO2 than for N2, a benefit of its higher nitrogen content in the porous carbon framework.

Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co‑segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease.

In Cognitive Radio systems, the performance of spectrum sensing will directly affect spectrum reallocation. Energy detection (ED) method is one of the most commonly used signal sensing methods in spectrum sensing, due to its low implementation complexity. ED can achieve a good detection performance when the noise variance is known. However in most cases, the noise variance is estimated. To reduce the impact of uncertainty in noise variance, an ED based signal detection method is proposed in this paper. This method exploits multiple antennas in a simple way to obtain the decision statistic as ED does. A technique is proposed to construct the decision statistic so that it is independent of the noise variance. As a consequence, the proposed method can significantly reduce the effect of noise variance uncertainty. Theoretical formulas are derived to describe the probability of detection and the probability of false alarm, which are free of noise variance uncertainty. The simulation results show that the detection performance of the proposed method can outperform the existing ED detection methods when the number of antenna is greater than four.

Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of the helix of the ear. The aim of this study is to identify the genetic cause of a 4-generation Chinese family of Tujia ethnicity with congenital contractural arachnodactyly by exome sequencing. The clinical features of patients in this family are consistent with CCA. A novel missense mutation, c.3769T>C (p.C1257R), in the fibrillin 2 gene (FBN2) was identified responsible for the genetic cause of our family with CCA. The p.C1257R mutation occurs in the 19th calcium-binding epidermal growth factor-like (cbEGF) domain. The amino acid residue cysteine in this domain is conserved among different species. Our findings suggest that exome sequencing is a powerful tool to discover mutation(s) in CCA. Our results may also provide new insights into the cause and diagnosis of CCA, and may have implications for genetic counseling and clinical management.

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2), in the myoxin XVa gene (MYO15A) was identified by exome sequencing and Sanger sequencing. The homozygous MYO15A c.9316dupC variant co-segregated with the phenotypes in the ARNSHL family and was absent in two hundred normal controls. The variant was predicted to interfere with the formation of the Myosin XVa-whirlin-Eps8 complex at the tip of stereocilia, which is indispensable for stereocilia elongation. Our data suggest that the homozygous MYO15A c.9316dupC variant might be the pathogenic mutation, and exome sequencing is a powerful molecular diagnostic strategy for ARNSHL, an extremely heterogeneous disorder. Our findings extend the mutation spectrum of the MYO15A gene and have important implications for genetic counseling for the family.

It is important to investigate the influence of surfactants on structures and physical/chemical properties of oil/water interfaces. This work reports a second harmonic generation study of the adsorption of malachite green (MG) on the surfaces of oil droplets in a hexadecane/water emulsion in the presence of surfactants including sodium dodecyl sulfate, polyoxyethylene-sorbitan monooleate (Tween80), and cetyltrimethyl ammonium bromide. It is revealed that surfactants with micromolar concentrations notably influence the adsorption of MG at the oil/water interface. Both competition adsorption and charge-charge interactions played very important roles in affecting the adsorption free energy and the surface density of MG at the oil/water interface. The sensitive detection of the changing oil/water interface with the adsorption of surfactants at such low concentrations provides more information for understanding the behavior of these surfactants at the oil/water interface.

PURPOSE Congenital cataract is a visual impairment that needs correction as early as possible after birth. This study aimed to identify whether genetic defects exist in a Chinese Han pedigree with congenital nuclear cataract. METHODS A family consisting of six members and three patients with nuclear cataract spanning three generations and 100 unrelated ethnically matched normal subjects were recruited in this study. Exome sequencing was performed in the 24-year-old proband, and Sanger sequencing was then conducted in other family members and 100 normal controls. RESULTS A novel missense variant, c.428G>A (p.G143E), in the gap junction protein-alpha 3 gene (GJA3) was identified in three patients of the family but unidentified in three family members without lens opacity and 100 normal controls. CONCLUSIONS A novel missense mutation, c.428G>A (p.G143E), in the GJA3 gene, localized to the cytoplasmic loop, was suggested to be the genetic cause of congenital nuclear cataract, which further expands the gene mutation spectrum. Our findings suggest that exome sequencing is a powerful and cost-effective tool to discover mutation(s) in disorders with high genetic and clinical heterogeneity. Further functional studies in the GJA3 gene mutations may help uncover pathogenic mechanisms of congenital cataract and therefore provide a possible genetic therapy for this disorder.

Supplementary material, approximately 3.50 MB.

BiVO4 Prepared via Hydrothermal Method Xingxing Gao, Jian Wang, Hongbo Xu and Jianglong Yu School of Chemical Engineering, University of Science and Technology Liaoning, High-Tech District 185 Qianshan Middle Road, Anshan 114051, China. School of Mining Engineering, University of Science and Technology Liaoning, High-Tech District 185 Qianshan Middle Road, Anshan 114051, China. Chemical Engineering, University of Newcastle, Callaghan NSW 2308, Australia lnkdxhb@163.com

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC.

A facile microwave-assisted synthetic route has been successfully developed to prepare CuO microspheres in the presence of poly(vinylpyrrolidone) (PVP). The products were characterized by X-ray dif...

Growing evidences show that genetic abnormalities play an important role in the etiopathogenesis of Parkinson disease (PD). At least 18 genetic loci and 13 disease-related genes for parkinsonism have been identified. Recently, the p.Ala502Val and p.Arg1205His variants in the eukaryotic translation initiation factor 4-gamma 1 gene (EIF4G1) were found to be associated with PD. To evaluate whether the EIF4G1 p.Ala502Val and p.Arg1205His variants are related to PD in Chinese Han population, we conducted genetic examination of these two variants in 425 PD patients from Mainland China and none was found in our patients. We did identify a known non-pathogenic polymorphism c.3660C>T (p.Ala1220Ala, rs143852330) in a 73-year-old male patient. Our results, consistent with other recent reports, suggest that the EIF4G1 p.Ala502Val and p.Arg1205His variants are a rare cause of PD, at least in Chinese population.

Tourette syndrome/chronic tic phenotype (TS-CTD) is a neurological disorder manifested particularly by motor and vocal tics and associated with a variety of behavioral abnormalities. Recently, the mitochondrial ribosomal protein L3 gene (MRPL3) S75N, the DnaJ (Hsp40) homolog subfamily C member 13 gene (DNAJC13) A2057S, the orofacial cleft 1 candidate 1 gene (OFCC1) R129G and c.-5A>G variants are reported to be associated with Tourette syndrome/chronic tic phenotype (TS-CTD) in patients of European ancestry. To evaluate whether these variants are associated with TS-CTD in Chinese Han patients, we screened 132 Chinese Han patients from Mainland China. None of the 132 samples from patients with TS-CTD showed the MRPL3 S75N, DNAJC13 A2057S, OFCC1 R129G and c.-5A>G variants, and these variants probably are a rare cause of TS-CTD in a Chinese Han ethnic group. Genetic heterogeneity of TS should be considered and tests designed to detect these variants in Chinese Han ethnic group probably will not have a diagnostic utility in clinical practice.

Essential tremor (ET) is shown an autosomal dominant mode of inheritance, with no disease-causing gene has been found. Genetic variations in the leucine-rich repeat and lg domain containing nogo receptor-interacting protein genes (LINGO1 and LINGO2) were reported to be associated with an increased risk of developing ET. To explore whether the LINGO4 gene (a homologous gene of the LINGO1 and the LINGO2 genes) plays a role in ET susceptibility, we performed genetic analysis of coding region of the LINGO4 gene in 100 patients with ET from Mainland China. Two nucleotide variants had been identified: (1) T > A transition (rs61746299), predicted to lead to the amino acid change Thr444Ser, and (2) C > T transition (rs1521179), located 12 bp downstream to the end of coding region. To evaluate whether these variants are related to ET susceptibility, we investigated a total of 150 Chinese Han ET patients (77 familial ET and 73 sporadic ET) and 300 sex, age and ethnicity matched normal controls. No significant differences in genotypic and allele distributions between patients and control subjects for rs61746299 and rs1521179 (p = 0.531 and p = 0.867 for genotypic distributions; p = 1.000 and p = 0.844 for allele distributions) were observed, suggesting variants in coding region of the LINGO4 gene may play litter or no role in the risk of ET susceptibility.

MicroRNAs (miRNAs), which are a class of small RNAs, have been shown to negatively regulate the expression of their target genes by directly binding to the 3′-untranslated region (3′-UTR) of mRNA. miRNA dysregulation has been associated with the pathogenesis of numerous types of human cancer. However, the role of miRNAs in intrahepatic cholangiocarcinoma (ICC) has yet to be fully elucidated. The present study aimed to investigate the role of miR-212 in the growth and metastasis of ICC in vitro, as well as the underlying mechanism. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and western blotting were used to examine mRNA and protein expression. An MTT assay and transwell assay were conducted to determine cell proliferation and invasion rates. The results of the RT-qPCR demonstrated that miR-212 was downregulated in the majority of investigated ICC tissues, as compared with their matched adjacent non-tumor tissues. In addition, miR-212 expression was shown to be markedly downregulated in three ICC cell lines, as compared with human intrahepatic biliary epithelial cells. Furthermore, restoration of miR-212 expression significantly suppressed the proliferation and invasion of ICC QBC939 cells. Forkhead box protein A1 (FOXA1) was predicted to be a putative target of miR-212 by bioinformatics analysis with TargetScan. Therefore, a luciferase reporter assay was conducted to confirm that miR-212 was able to directly bind to the 3′-UTR of FOXA1 mRNA. In addition, using western blot analysis, the protein expression of FOXA1 was shown to be negatively regulated by miR-212 in ICC QBC939 cells. In conclusion, it was demonstrated that FOXA1 was frequently upregulated in various ICC tissues and cell lines. The results of the present study suggested that miR-212 inhibits the proliferation and invasion of ICC cells by directly targeting FOXA1, and thus may be considered a potential candidate for the treatment of ICC.

Recently, the rs3129882 variant in intron 1 of HLA-DRA was found to be associated with late-onset sporadic Parkinson disease (PD) in Americans of European ancestry. To evaluate whether the same variant is related to PD in Chinese population, we investigated late-onset sporadic PD patients of Chinese Han ethanicity in Mainland China. We found significant difference in genotypic and allele distribution between patients and control subjects ( χ 2 = 6.446, p = 0.040 for genotypic distribution; χ 2 = 5.762, p = 0.016 for allele distribution), suggesting this variant is associated with late-onset sporadic PD in Chinese Han population.

The aim of the present study was to retrospectively analyze the clinical efficacy and side-effects of two-dimensional conventional radiotherapy (2D-CRT) and intensity-modulated radiotherapy (IMRT) in 53 NPC patients with cervical spine involvement, without distant metastases. In total, 53 patients were enrolled in the present study, with 24 being treated with IMRT and 29 being treated with 2D-CRT. All 53 patients received platinum-based concurrent chemotherapy and 4-6 cycles of adjuvant chemotherapy subsequent to radiation. The patients were clinically staged according to the seventh edition of the UICC and AJCC staging systems. Overall survival (OS), local progression-free survival (LPFS) and distant metastasis-free survival (DMFS) rates were calculated. The 3- and 5-year OS rates were 87.7% and 45.5% in the IMRT-treated group and 65.5% and 9.1% in the 2D-CRT-treated group (P=0.01). The 3- and 5-year LPES rates were 87.4% and 69.9% in the IMRT-treated group compared with 49.4% and 9.4% in the 2D-CRT-treated group, respectively (P=0.00). The 3- and 5-year DMFS rates were 94.4 and 40.8% in the IMRT-treated group and 79.8 and 30.4% in the 2D-CRT-treated group (P=0.13). N stage (P=0.00) and radiotherapy methods (P=0.01) were relevant to the OS and LPFS rates, it also revealed a significant difference when the DMFS rates were analyzed in N stage. The incidence of dry mouth in the IMRT group was significantly lower (P=0.01), but there was no statistically significant difference in acute oropharyngeal mucositis or myelosuppression. IMRT had significant advantages in local control and OS compared with conventional 2D-CRT, but IMRT failed to reduce the incidence of distant metastasis.

A method using trivalent chromium has been used to replace hexavalent chromium for the electro-deposition of chromium. Using a tri-chamber bath system various anodic materials and membranes were evaluated to minimize the production of environmentally and health damaging chromic acid. By measuring the absorbance of Cr(VI) at 640 nm, the results indicate that the use of a titanium plated ruthenium (Ti-Ru) anode produces the least amount of chromic acid byproduct compared to lead-gold alloy and graphite anodes. The concentration of Cr(VI) in the immediate vicinity of the Ti-Ru anode decreased from 0.389 mg/L to 0 during a 40-min deposition period. The use of a Nafion TM quaternary cation exchange membrane portioning the buffer and anode selectively prevented Cr(III) from entering the anode compartment whilst allowing the migration of H + to maintain overall voltaic continuity. It has been demonstrated that the use of a Ti-Ru anode with a Nafion TM membrane can eliminate the production of chromic acid associated with the electro-deposition of chromium plate thereby preventing its health damaging exposure to plant operators and preventing discharge of Cr(VI) into the environment. Addition of a surfactant improved current efficiency by 34.7%.

Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3), the collagen type IV alpha-4 gene (COL4A4), and the collagen type IV alpha-5 gene (COL4A5), which encodes type IV collagenα3,α4, andα5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Glnfs*36) in theCOL4A5gene was identified. This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family. Neither sensorineural hearing loss nor typicalCOL4A5-related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy) were present in patients of this family. The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD). Our discovery broadens the mutation spectrum in theCOL4A5gene associated with AS, which may also shed new light on genetic counseling for AS.

Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and a missense variant c.139GA (p.D47N) in the gap junction protein-alpha 3 gene (GJA3) was identified. The variant co-segregated with patients of the family and was not observed in unaffected family members or normal controls. The above findings indicated that the variant was a pathogenic mutation. The mutation p.D47N was found in the first extracellular loop (El) domain of GJA3 protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in cataract, a disorder with high genetic heterogeneity. Our findings may also provide new insights into the cause and diagnosis of congenital nuclear cataract and have implications for genetic counseling.

Familial hypophosphatemic rickets (HR), the most common inherited form of rickets, is a group of inherited renal phosphate wasting disorders characterized by growth retardation, rickets with bone deformities, osteomalacia, poor dental development, and hypophosphatemia. The purpose of this study was to identify the genetic defect responsible for familial HR in a four-generation Chinese Han pedigree by exome sequencing and Sanger sequencing. Clinical features include skeletal deformities, teeth abnormalities, hearing impairments and variable serum phosphate level in patients of this family. A novel deletion mutation, c.1553delT (p.F518Sfs*4), was identified in the X-linked phosphate regulating endopeptidase homolog gene (PHEX). The mutation is predicted to result in prematurely truncated and loss-of-function PHEX protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in HR, a disorder with genetic and clinical heterogeneity. The findings may also provide new insights into the cause and diagnosis of HR, and have implications for genetic counseling and clinical management.

A facile encapsulation strategy was reported for preparing nanoparticles/metal–organic framework hybrid thin films which exhibit both the active (catalytic, magnetic, and optical) properties derived from the NPs and the size-selectivity originating from the well-defined microporous structure of the MOF thin films.

One of the biggest challenges in e-commerce is to utilize data mining methods for the improvement of profitability for both platform hosts and e-commerce vendors. Taking Alibaba as an example, the more efficient method of operation is to collect hosting service fees from the vendors that use the platform. The platform defines a service fee value and the vendors can decide whether to accept or not. In this sense, it is necessary to create an analytical tool to improve and maximize the profitability of this partnership. This work proposes a dynamic in-cooperative E-Commerce Game Model (E-CGM). In E-CGM, the platform hosting company and the e-commerce vendors have their payoff functions calculated using backwards induction and their activities are simulated in a game where the goal is to achieve the biggest payoff. Taking into consideration various market conditions, E-CGM obtains the Nash equilibrium and calculates the value for which the service fee would yield the most profitable result. By comparing the data mining results obtained from a set of real data provided by Alibaba, E-CGM simulated the expected transaction volume based on a selected service fee. The results demonstrate that the proposed model using game theory is suitable for e-commerce studies and can help improve profitability for the partners of an online business model.

In this work, we present a method for fabricating high-resolution metal arrays based on the topography-mediated electrochemical deposition (ECD) process. By this approach, silver arrays of 200nm feature size can be obtained with the mediation of microscale patterns on silicon wafer. It should be possible to extend this method to other materials and substrates, which may have applications in sensors, optical and optoelectronic devices.

The proneural protein Neurogenin 2 (NEUROG2) is a transcription factor of importance for the differentiation and survival of midbrain dopaminergic neurons. To determine whether genetic variation in the coding region of the NEUROG2 gene plays a role in the etiology of Parkinson's disease (PD), we screened DNA samples from 202 PD patients and 201 normal controls. No mutation in the NEUROG2 gene was identified in our PD cohort, except that novel compound heterozygous variants (Gly56Arg and Asp206Glu) were found in a 91-year normal male, suggesting that mutations in the coding region of the NEUROG2 gene play little or no role in the development of PD.

Background - Several genetic variants in transcription factor genes have been reported to be associated with Parkinson's disease (PD). The muscle segment homeobox drosophila homolog of 1 gene (MSX1) is a major upstream regulator of the dopaminergic neuronal subtype specification. Aims of the study - To determine whether genetic variation in the coding region of the MSX1 gene plays a role in the etiology of PD. Methods - We searched for genetic variations in the coding region of the MSX1 gene in 202 patients with PD and 200 normal controls by PCR-single-strand conformation polymorphism (PCR-SSCP) and sequencing. Results - No mutation in the MSX1 gene was identified in our cohort. Conclusions - Mutations in the coding region of the MSX1 gene play little or no role in the development of PD.