The Role of Lanthanum Stearate on Strain-Induced Crystallization and the Mechanical Properties of Whole Field Latex Rubber.

Natural rubber (NR) is extensively utilized in numerous industries, such as aerospace, military, and transportation, because of its exceptional elasticity and all-around mechanical qualities. However, commercial NR made using various techniques typically has distinct mechanical characteristics. For instance, whole field latex rubber (SCR-WF) cured with accelerator 2-Mercaptobenzothiazole exhibits poor mechanical properties. This work attempts to enhance the mechanical property of SCR-WF via the addition of lanthanum stearate (LaSt). The influence of LaSt on strain-induced crystallization (SIC) and the mechanical properties of SCR-WF were investigated. The results of crosslinking density measured by the equilibrium swelling method demonstrate that the presence of LaSt significantly increases the crosslinking density of SCR-WF with lower loading of LaSt. The results of the mechanical properties show that the introduction of LaSt can enhance the tensile strength and fracture toughness of SCR-WF. To reveal the mechanism of LaSt improving the mechanical properties of SCR-WF, synchrotron radiation wide-angle X-ray diffraction (WAXD) experiments were used to investigate the SIC behaviors of SCR-WF. We found that the LaSt leads to higher crystallinity of SIC for the strain higher than 3.5. The tube model indicates the contribution of LaSt in both crosslinking and topological constraints. This work may provide an instruction for developing SCR-WF with superior mechanical properties.

Detection, characterization, and persistence of Campylobacter hepaticus, the cause of spotty liver disease in layer hens.

A Campylobacter species was first described as the etiological agent of Spotty Liver Disease (SLD) in 2015 and subsequently named as Campylobacter hepaticus in 2016. The bacterium predominantly affects barn and/or free-range hens at peak lay, is fastidious and difficult to isolate, which has impeded elucidation of its sources, means of persistence and transmission. Ten farms from South-Eastern Australia, of which 7 were free range entities participated in the study. A total of 1,404 specimens from layers and 201 from environmental sources, were examined for the presence of C. hepaticus. In this study, our principal findings included the continuing detection of C. hepaticus infection in a flock following an outbreak, indicating a possible transition of infected hens to asymptomatic carriers, that was also characterized by no further occurrence of SLD in the flock. We also report that the first outbreaks of SLD on newly commissioned free-range farms affected layers ranging from 23 to 74 wk of age, while subsequent outbreaks in replacement flocks on these farms occurred during the more conventional peak lay period (23-32 wk of age). Finally, we report that in the on-farm environment, C. hepaticus DNA was detected in layer feces, inert elements such as stormwater, mud, soil, as well as in fauna such as flies, red mites, Darkling beetles, and rats. While in off-farm locations, the bacterium was detected in feces from a variety of wild birds and a canine.

Stabilized High-Membered and Phase-Pure 2D All Inorganic Ruddlesden-Popper Halide Perovskites Nanocrystals as Photocatalysts for the CO2 Reduction Reaction.

In contrast to the 2D organic-inorganic hybrid Ruddlesden-Popper halide perovskites (RPP), a new class of 2D all inorganic RPP (IRPP) has been recently proposed by substituting the organic spacers with an optimal inorganic alternative of cesium cations (Cs+ ). Nevertheless, the synthesis of high-membered 2D IRPPs (n > 1) has been a very challenging task because the Cs+ need to act as both spacers and A-site cations simultaneously. This work presents the successful synthesis of stable phase-pure high-membered 2D IRPPs of Csn+1 Pbn Br3n+1 nanosheets (NSs) with n = 3 and 4 by employing the strategy of using additional strong binding bidentate ligands. The structures of the 2D IRPPs (n = 3 and 4) NSs are confirmed by powder X-ray diffraction and high-resolution aberration-corrected scanning transmission electron microscope measurements. These 2D IRPPs NSs exhibit a strong quantum confinement effect with tunable absorption and emission in the visible light range by varying their n values, attributed to their inherent 2D quantum-well structure. The superior structural and optical stability of the phase-pure high-membered 2D IRPPs make them a promising candidate as photocatalysts in CO2 reduction reactions with outstanding photocatalytic performance and long-term stability.

Atomic-Layer Controlled Interfacial Band Engineering at Two-Dimensional Layered PtSe2/Si Heterojunctions for Efficient Photoelectrochemical Hydrogen Production.

Platinum diselenide (PtSe2) is a group-10 two-dimensional (2D) transition metal dichalcogenide that exhibits the most prominent atomic-layer-dependent electronic behavior of "semiconductor-to-semimetal" transition when going from monolayer to bulk form. This work demonstrates an efficient photoelectrochemical (PEC) conversion for direct solar-to-hydrogen (H2) production based on 2D layered PtSe2/Si heterojunction photocathodes. By systematically controlling the number of atomic layers of wafer-scale 2D PtSe2 films through chemical vapor deposition (CVD), the interfacial band alignments at the 2D layered PtSe2/Si heterojunctions can be appropriately engineered. The 2D PtSe2/p-Si heterojunction photocathode consisting of a PtSe2 thin film with a thickness of 2.2 nm (or 3 atomic layers) exhibits the optimized band alignment and delivers the best PEC performance for hydrogen production with a photocurrent density of -32.4 mA cm-2 at 0 V and an onset potential of 1 mA cm-2 at 0.29 V versus a reversible hydrogen electrode (RHE) after post-treatment. The wafer-scale atomic-layer controlled band engineering of 2D PtSe2 thin-film catalysts integrated with the Si light absorber provides an effective way in the renewable energy application for direct solar-to-hydrogen production.

Lithiation-induced fracture of silicon nanowires observed by in-situ scanning electron microscopy.

Silicon is expected to be a useful anode material in lithium ion batteries for future energy storage applications, because of its high theoretical charge storage density of Li+ ions. However, volume expansion due to lithiation fractures the Si anode material, leading to poor cycle stability of battery operation. The approaches to overcome the problem include using Si nanowires to relieve the stress induced by volume expansion and coating a protective layer on the Si anode to prevent delamination. In this study, we use in-situ scanning electron microscopy to monitor the morphological changes of 90 nm thick pristine Si nanowires and the Si nanowires coated with amorphous TiO2, respectively, during electrochemical lithiation. The results of in-situ observation show that both kinds of Si nanowires exhibit a larger thickness after 10 h lithiation and suffer fracture after 25 h. It is also found that the TiO2 layer is not strong enough to prevent Si nanowires from fracture. Since the TiO2 layer can not be elastically deformed, this surface shell fractures earlier in the lithiation process than pristine Si nanowires. Transformation of the crystalline Si nanowires to an amorphous phase and lithium composition detected in the nanowires support that the observed fracture indeed results from lithiation.

Exploring the Origin of Phase-Transformation Kinetics of CsPbI3 Perovskite Nanocrystals Based on Activation Energy Measurements.

Perovskite α-CsPbI3 nanocrystals (NCs) with a high fluorescence quantum yield (QY) typically undergo a rapid phase transformation to a low-QY δ-CsPbI3 phase, thus limiting their optoelectronic applications. In this study, organic molecule hexamethyldisilathiane (HMS) is used as a unique surfactant to greatly enhance the stability of the cubic phase of CsPbI3 NCs (HMS-CsPbI3) under ambient conditions. The reaction kinetics of the phase transformation of CsPbI3 NCs are systemically investigated through in situ photoluminescence (PL), X-ray diffraction, and transmission electron microscope (TEM) measurements under moisture. The activation energy of HMS-CsPbI3 NCs is found to be 14 times larger than that of CsPbI3 NCs capped by olyelamine (OLA-CsPbI3 NCs). According to density functional theory calculations, the bonding between HMS and CsPbI3 NCs is stronger than that between OLA and CsPbI3 NCs, preventing the subsequent phase transformation. Our study presents a clear pathway for achieving highly stable CsPbI3 NCs for future applications.

Prevalence of Congenital Heart Disease Amongst Schoolchildren in Southwest China.

OBJECTIVE: To investigate the prevalence and risk factors of congenital heart disease in Yunnan, China which has diverse ethnic groups. METHODS: This cross-sectional study enrolled 244,023 children from 2010 to 2015. To diagnose CHD, a conventional physical examination was used to screen suspicious cases, which were further confirmed by echocardiography. RESULTS: A total of 1695 children were diagnosed with CHD. The estimated prevalence was 6.94%. Atrial septal defects were the most common cardiac abnormalities. A higher prevalence of CHD was observed with preterm birth, low birth weight, maternal age ≥35 years, and high-altitude regions. The prevalence also showed differences between diverse ethnic groups. CONCLUSIONS: The prevalence of CHD in China may have ethnic differences.

The triggers of the cGAS-STING pathway and the connection with inflammatory and autoimmune diseases.

Cyclic GMP-AMP synthase (cGAS) is a cytosolic nucleic acid sensor that can bind to dsDNA. It maintains an autoinhibited state in the absence of cytosolic dsDNA, while when activated, it in turn activates its adaptor protein STING, ultimately triggering a cascade that produces inflammatory cytokines and type I interferons (IFNs). With further research, additional types of nucleic acids have been found to be activators of the cGAS-STING pathway. The cGAS-STING pathway can provide protection or resistance against infections; however, improper or overactivation might cause severe inflammatory pathologies, including autoimmunity. This article systematically reviews the latest research progress on the axis, including categorical pathway triggers, the connection with autoimmune disease and drug therapy progress.

Effect of miR-301a/PTEN pathway on the proliferation and apoptosis of cervical cancer.

The aim of this study was to evaluate the effect of the miR-301a/PTEN pathway in cervical cancer. miR-301a and PTEN expression were measured by quantitative real-time PCR (qRT-PCR) in tissues samples and HeLa cells. PTEN protein level was determined by Western blotting. Dual reporter luciferase assay was performed to validate PTEN as a direct target of miR-301a. The gain- and loss-of function assay was performed by miR-301a overexpression and silencing. Cell proliferation was monitored by cell counting Kit-8 (CCK-8). Cell apoptosis was quantitated by flow cytometry. SPSS was used to analyze the significant difference in the treatments. miR-301a demonstrated a significantly higher expression in cervical carcinoma tissues compared with the paired non-carcinoma tissues ( n = 12), while PTEN expression was found to be significantly lower in cervical carcinoma tissues than their paired non-carcinoma tissues ( n = 12). In addition, PTEN was identified as the direct target of miR-301a. Moreover, overexpression of miR-301a significantly promoted HeLa cells proliferation and anti-apoptosis which had a reverse pattern after PTEN overexpression. Our results confirm PTEN as a direct target of miR-301a in HeLa cells and suggest that miR-301a/PTEN pathway contributes to the development and progression of cervical cancer.

Mouse models in modeling aging and cancer.

Mouse models have been widely used in the research of human diseases. Aging, just as cancer, is influenced by the interaction of various genetic and environmental factors. Currently, aging could be induced by many mechanism, including telomere dysfunction, oxidase stress, DNA damage and epigenetic changes. Many of these genetic pathways are also shared by aging and cancer. The mouse models generated to study these pathways might manifest either aging or cancer phenotypes, sometimes both, which in deed has worked as a good model system in understanding the correlation between aging and cancer. Here, we reviewed these mouse models that were generated to model aging or cancer. These mouse models might help us put those related pathways in context and discover essential interactions in cancer and aging regulation.

Plan-view transmission electron microscopy specimen preparation for atomic layer materials using a focused ion beam approach.

Using the focused ion beam (FIB) to prepare plan-view transmission electron microscopy (TEM) specimens is beneficial for obtaining structural information of two-dimensional atomic layer materials, such as graphene and molybdenum disulfide (MoS2) nanosheets supported on substrates. The scanning electron microscopy (SEM) image in a dual-beam FIB-SEM can accurately locate an area of interest for specimen preparation. Besides, FIB specimen preparation avoids damages and hydrocarbon contamination that are usually produced in other preparation methods, in which chemical etching and polymer adhesion layers are used. In order to reduce harmful ion-beam bombardment and re-deposition on the thin atomic layers during FIB specimen preparation, we develop a method to protect the atomic layers by making a "microcapsule" to insulate the sample surface. The method is applied respectively to prepare plan-view TEM specimens of a graphene sheet with multiple adlayers and MoS2 atomic layers. Useful electron diffraction results can be obtained from these specimens for understanding the interlayer orientation relationships in the two materials. Auger electron spectroscopy analysis further confirms that the sample surface is free from contamination under the sufficient protection given by the proposed method.

Umbilical cord mesenchymal stem cell transplantation in the treatment of multiple sclerosis.

To investigate the clinical efficacy and safety of umbilical cord mesenchymal stem cell (UCMSC) transplantation for treating multiple sclerosis (MS), the patients with MS were recruited and treated with UCMSC. The procedure of preparing UCMSC was in accordance with the standards formulated by the International Society for Cell Biology. Cell surface markers, multiple differentiation potential and safety of UCMSC for transplantation were detected. The number of cells in each infusion was 1 to 2×106 cells/kg. Patients were recruited in accordance with the standards of the International Mesenchymal Stem Cells Transplantation Study Group. After treatment, the clinical therapeutic effects including symptoms, vital signs, clinical attacks, magnetic resonance imaging (MRI), neurological function scores and adverse reactions such as fever, dizziness, and vascular irritation were monitored and evaluated. In addition, the regulatory effects of UCMSC on immune system of patients were also assessed. The results showed that the patients' symptoms were improved after UCMSC transplantation. No clinical attacks occurred during transplantation. MRI revealed a reduced number of foci and Expanded Disability Status Scale scores were decreased. Some of patients had adverse reactions after transplantation. These adverse effects were not serious and lasted short duration, thus no intervention was conducted and let it be eliminated by itself. The mRNA expression of CD86, IL-2, CTLA-4, and HLADRB1 in peripheral blood was significantly decreased after UCMSC transplantation (P < 0.05). Based on our present studies, UCMSCs would be considered as a safe and alternative option for treatment of MS.

Gain of function in the mouse model of a recurrent mutation p53N236S promotes the formation of double minute chromosomes and the oncogenic potential of p19ARF.

The mutation p53N236S (p53S) has been identified as one of the recurrent mutations in human cancers by TCGA database. Our in vitro data revealed the oncogenic gain of function of p53S. To understand the function of p53S in vivo, we generated the p53S knock-in mouse. The p53S/S mice manifested highly invasive lymphomas and metastatic sarcomas with dramatically increased double minute chromosomes. The survival curve, the incidence of tumors and the tumor spectrum of p53S/S mice is very similar to the p53R172H mouse model. The p53S/+ mice showed delayed onset of tumorigenesis and a high metastasis rate (40%) and low loss of heterozygosity rate (2/16). The activation of CDKN2A pathway in p53S/S MEF and tumors, and the accumulation of p19ARF protein in tumor tissues suggested p19ARF might contribute to the accumulation of mutant p53S protein in the tumor and promote tumorigenesis. The high expression of p19ARF correlated with mutant p53 accumulation and tumor progression, suggesting a dual role of p19ARF in tumor promotion or suppression that might depend on the p53 mutation status in tumor cells. The oncogenic gain of function of this recurrent mutation p53S prompts the reconsideration of p53 mutations function that occurs at a low frequency.

Brominated indoles from a marine mollusc inhibit inflammation in a murine model of acute lung injury.

New drug leads for the treatment of inflammation are urgently needed. Marine molluscs are widely used as traditional medicines for the treatment of inflammation. Here we report the positive effects of a hypobranchial gland (HBG) extract and the dominant bioactive compound 6-bromoisatin from the Muricidae mollusc Dicathais orbita, for reducing lipopolysaccharide (LPS) induced acute lung inflammation in a mouse model. Both 6-bromoisatin and the HBG extract suppressed the inflammatory response in mice that were pre-treated by oral gavage at 48, 24 and 1 h prior to LPS infusion. The inflammatory antagonists were tested at concentrations of 0.5 mg/g and 0.1 mg/g HBG extract and 0.1 mg/g and 0.05 mg/g 6-bromoisatin in carrier oil and all treatments reduced inflammation as indicated by a significant suppression of inflammatory markers present in bronchoalveolar lavage fluid (BALF), in comparison to LPS induced positive control mice administered the carrier oil alone (p < 0.0001). Tumour necrosis factor-alpha (TNFα) and interleukin-1 beta (IL-1ß) levels, in addition to total protein concentration were all significantly reduced in BALF from mice treated with the extract or 6-bromoisatin. Furthermore, all treatment groups showed significant reductions in neutrophil sequestration and preservation of the lung tissue architecture compared to the positive control (p < 0.0001). The combined results from this study and our previous in vitro studies indicate that 6-bromoisatin in the HGB extracts inhibit the activation of inflammatory signalling pathway. The results from this study further confirm that the HBG extract from Muricidae molluscs and 6-bromoisatin are bioavailable and effective in vivo, thus have potential for development as natural therapeutic agents for inflammation.

Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome.

AIMS: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by fibrofatty infiltration of the myocardium and ventricular arrhythmias that may lead to sudden cardiac death. It has been observed that male patients develop the disease earlier and present with more severe phenotypes as compared to females. Thus, we hypothesized that serum levels of sex hormones may contribute to major arrhythmic cardiovascular events (MACE) in patients with ARVC/D. METHODS AND RESULTS: The serum levels of five sex hormones, sex hormone-binding globulin, high sensitivity troponin T, pro-brain natriuretic peptide, cholesterol, triglycerides, insulin, and glucose were measured in 54 ARVC/D patients (72% male). Twenty-six patients (48%) experienced MACE. Total and free testosterone levels were significantly increased in males with MACE as compared to males with a favourable outcome, whereas estradiol was significantly lower in females with MACE as compared to females with a favourable outcome. Increased testosterone levels remained independently associated with MACE in males after adjusting for age, body mass index, Task Force criteria, ventricular function, and desmosomal mutation status. Furthermore, an induced pluripotent stem cell-derived ARVC/D cardiomyocyte model was used to investigate the effects of sex hormones. In this model, testosterone worsened and estradiol improved ARVC/D-related pathologies such as cardiomyocyte apoptosis and lipogenesis, strongly supporting our clinical findings. CONCLUSIONS: Elevated serum testosterone levels in males and decreased estradiol levels in females are independently associated with MACE in ARVC/D, and directly influence disease pathology. Therefore, determining the levels of sex hormones may be useful for risk stratification and may open a new window for preventive interventions.

Advanced rechargeable aluminium ion battery with a high-quality natural graphite cathode.

Recently, interest in aluminium ion batteries with aluminium anodes, graphite cathodes and ionic liquid electrolytes has increased; however, much remains to be done to increase the cathode capacity and to understand details of the anion-graphite intercalation mechanism. Here, an aluminium ion battery cell made using pristine natural graphite flakes achieves a specific capacity of ∼110 mAh g-1 with Coulombic efficiency ∼98%, at a current density of 99 mA g-1 (0.9 C) with clear discharge voltage plateaus (2.25-2.0 V and 1.9-1.5 V). The cell has a capacity of 60 mAh g-1 at 6 C, over 6,000 cycles with Coulombic efficiency ∼ 99%. Raman spectroscopy shows two different intercalation processes involving chloroaluminate anions at the two discharging plateaus, while C-Cl bonding on the surface, or edges of natural graphite, is found using X-ray absorption spectroscopy. Finally, theoretical calculations are employed to investigate the intercalation behaviour of choloraluminate anions in the graphite electrode.

Interactions between angiotensin-converting enzyme-2 polymorphisms and high salt intake increase the risk of hypertension in the Chinese Wa population.

Interactions between angiotensin-converting enzyme-2 (ACE2) gene polymorphisms and high salt intake increase the risk of hypertension (HTN); however, this association is not well-established in the Chinese Wa population. In this study, we investigated the prevalence and associated factors of HTN in the Chinese Wa ethnic minority in Yunnan Province, China. In addition, we assessed the associations of single nucleotide polymorphisms (SNPs) in ACE2 with blood pressure and environmental factors. Among a total of 838 Wa individuals, the overall prevalence, awareness, treatment and control rates of HTN were 31.03%, 32.81%, 10.77%, and 0.70%, respectively. In addition, 260 hypertensive patients and 290 normotensive individuals were randomly selected for investigations of salt intake and ACE2 SNPs. The levels of e24-h salt intake in female hypertensive patients were significantly higher that those in normotensive individuals. The ACE2 rs2285666 T allele or TT genotype and rs714205 G allele or GG genotype were identified as risk factors for the development of HTN in female Wa individuals. The CGTG haplotype was a risk factor in hypertensive patients. Moreover, high salt intake increased the occurrence of hypertension among ACE2 rs2285666 TT and rs714205 GG individuals. In this study, we not only identified an association between ACE2 gene polymorphism and HTN in the Chinese Wa population, but also a possible link interaction between ACE2 polymorphism type and high salt intake in increasing the risk of HTN in this population.

Immunization of stromal cell targeting fibroblast activation protein providing immunotherapy to breast cancer mouse model.

Unlike heterogeneous tumor cells, cancer-associated fibroblasts (CAF) are genetically more stable which serve as a reliable target for tumor immunotherapy. Fibroblast activation protein (FAP) which is restrictively expressed in tumor cells and CAF in vivo and plays a prominent role in tumor initiation, progression, and metastasis can function as a tumor rejection antigen. In the current study, we have constructed artificial FAP(+) stromal cells which mimicked the FAP(+) CAF in vivo. We immunized a breast cancer mouse model with FAP(+) stromal cells to perform immunotherapy against FAP(+) cells in the tumor microenvironment. By forced expression of FAP, we have obtained FAP(+) stromal cells whose phenotype was CD11b(+)/CD34(+)/Sca-1(+)/FSP-1(+)/MHC class I(+). Interestingly, proliferation capacity of the fibroblasts was significantly enhanced by FAP. In the breast cancer-bearing mouse model, vaccination with FAP(+) stromal cells has significantly inhibited the growth of allograft tumor and reduced lung metastasis indeed. Depletion of T cell assays has suggested that both CD4(+) and CD8(+) T cells were involved in the tumor cytotoxic immune response. Furthermore, tumor tissue from FAP-immunized mice revealed that targeting FAP(+) CAF has induced apoptosis and decreased collagen type I and CD31 expression in the tumor microenvironment. These results implicated that immunization with FAP(+) stromal cells led to the disruption of the tumor microenvironment. Our study may provide a novel strategy for immunotherapy of a broad range of cancer.

Comparative transcriptome analysis of atrial septal defect identifies dysregulated genes during heart septum morphogenesis.

Congenital heart disease (CHD) is one of most common birth defects, causing fetal loss and death in newborn all over the world. Atrial and ventricular septal defects were the most common CHD subtypes in most districts. During the past decades, several genes were identified to control atrial septum formation, and mutations of these genes can cause cardiac septation defects. However, the pathogenic mechanism of ASD on transcriptional levels has not been well elucidated yet. Herein, we performed comparative transcriptome analysis between normal and atrial septal defect (ASD) patients by Illumina RNA sequencing (RNA-seq). Advanced bioinformatic analyses were employed to identify dysregulated genes in ASD. The results indicated that cardiac specific transcriptional factors (GATA4 and NKX2-5), extracellular signal molecules (VEGFA and BMP10) and cardiac sarcomeric proteins (MYL2, MYL3, MYH7, TNNT1 and TNNT3) were downregulated in ASD which may affect heart atrial septum formation, cardiomyocyte proliferation and cardiac muscle development. Importantly, cell cycle was dominant pathway among downregulated genes, and decreased expression of the proteins included in cell cycle may disturb cardiomyocyte growth and differentiation during atrial septum formation. Our study provided evidences of understanding pathogenic mechanism of ASD and resource for validation of CHD genomic studies.

Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population.

Congenital heart disease (CHD) is the most common birth abnormality, and more than 40% CHD subtypes are sporadic atrial septal defect (ASD) and ventricular septal defect (VSD). The etiology of ASD and VSD remains largely unknown. NKX2-5 gene is a highly conserved homeobox protein gene and expressed in the developing heart. Its mutations can cause sporadic ASD and VSD. This study aimed to investigate the genetic variations of NKX2-5 in ASD and VSD in Chinese Yunnan population. The whole 2 coding exon and partial flanking intron sequences of NKX2-5 gene were screened using DNA sequencing in 107 ASD patients and 391 VSD patients as well as 487 healthy individuals (control) who had parental origin (three generations) from the Yunnan province in China. Results found that, 4 reported single nucleotide polymorphisms (SNPs) (rs2277923, rs3729753, rs703752 and rs202071628) were detected. A novel heterozygous DNA sequence variant (DSV) (1500G>C) in the 3'UTR region of NKX2-5 gene were identified in 2 VSD patients, but none in ASD and controls. One single nucleotide polymorphism (rs2277923), the frequency of which was significantly higher in ASD group, and the allele and genotype were associated with the occurrence of ASD. Besides, a weak statistical association existed between rs703752 and VSD (uncorrected P=0.028). The novel DSV (1500G>C) of NKX2-5 gene may contribute to a small number of VSD, and rs2277923 SNP may contribute to the risk of sporadic ASD in Chinese Yunnan population.