Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping

Purpose

To explore the feasibility of performing rapid prenatal diagnoses of FSHD1 using a combination of Bianano optical mapping and linkage-based karyomapping.

Methods

DNA specimens from a family that had been previously diagnosed with FSHD1 using Southern Blot analysis were used for this study. Genetic diagnosis of the proband, fetus chorionic amniotic fluid, and aborted fetal tissue was performed using Bianano optical mapping (BOM) together with linkage-based karyomapping.

Results

BOM analysis showed that the proband's 4q35.2 region contained four D4Z4 repeats and the 4qA permissible allele, consistent with the previous FSHD1 diagnosis obtained by Southern Blotting. BOM analysis of the fetus' 4q35.2 region was consistent with that of the proband. Karyomap analysis revealed that the fetus inherited the affected chromosome segment from the proband. After genetic counseling, the couple choose termination of pregnancy, and we performed gene diagnosis of the abortus tissue by BOM.

Conclusions

Bianano optical mapping can determine the number of D4Z4 repeats and exclude interference of the 10q26.3 homologous region, and in combination with karyomapping, can be used for rapid and accurate prenatal diagnosis of FSHD1.     

季铵盐类离子液体中制备TiO2光催化剂

通过改变季铵盐类离子液体([CPL][TBAB])用量,恒温水浴时间,恒温水浴温度,干燥温度等因素探索了利用季铵盐类离子液体制备TiO2光催化剂的实验条件。根据实验结果分析讨论,得出了利用季铵盐类离子液体制备TiO2光催化剂的最佳条件为:[CPL][TBAB]与TiO2用量比为1 g∶10 ml;恒温水浴的温度为50℃,时间为30 h;干燥温度为80℃,时间为12 h。在此条件下制备的TiO2光催化剂具有较高的光催化活性。     

焦油渣和煤沥青焚烧处置实验研究

通过开展残渣与有机污染土壤的混合焚烧实验,分析了炉渣、烟气中多环芳烃和重金属的含量及浓度,明确了残渣焚烧的适用工艺及条件。结果表明,在一段炉焚烧温度600~900℃、二段炉出口温度≥1 100℃、烟气停留时间≥2s、急冷器出口温度≤150℃的条件下,炉渣中重金属含量较高,少部分进入到尾气中,多环芳烃含量极少,大部分被焚烧破坏和尾气净化设施去除。实验结果表明,在残渣掺入量为30%条件下,尾气排放能够满足标准要求。     

低碳经济下的智能用电技术与环境安全

智能用电作为建设坚强智能电网的重要组成部分,具有高度的自动化水平和很强的自愈能力。采用智能用电技术可以将各种分布式再生能源迅速接入电网,对环境安全具有重要的促进作用。通过介绍智能用电这一新技术的发展现状和及其关键技术,从能源防御体系、土地利用和电力生产等方面对智能用电与环境安全之间的关系进行了分析。采用智能用电技术可以减少碳排放,提高用电系统的抗击灾害能力,保护环境、集约利用土地,是环境安全体系中非常重要的组成环节。     

气凝胶消防服概念研究

对现役消防服的隔热材质和使用性能,以及气凝胶作为新型纳米隔热材料在服装方面的应用现状进行了分析。根据初步对比讨论了SiO2气凝胶复合材料用于消防服的可行性,得出以下结论：在同样的热防护性能前提下,采用SiO2气凝胶复合材料可使消防服重量及厚度降低70％以上。     

Biodegradation of organochlorine pesticide endosulfan by bacterial strain Alcaligenes faecalis JBW4

The recently discovered endosulfan-degrading bacterial strain Alcaligenesfaecalis JBW4 was isolated from activated sludge. This strain is able to use endosulfan as a carbon and energy source. The optimal conditions for the growth of strain JBW4 and for biodegradation by this strain were identified, and the metabolic products of endosulfan degradation were studied in detail. The maximum level of endosulfan biodegradation by strain JBW4 was obtained using broth at an initial pH of 7.0, an incubation temperature of 40℃ and an endosulfan concentration of I00 mg/L. The concentration of endosulfan was determined by gas chromatography. Strain JBW4 was able to degrade 87.5% of α-endosulfan and 83.9% of β-endosulfan within 5 days. These degradation rates are much higher than the previously reported bacterial strains. Endosulfan diol and endosulfan lactone were the major metabolites detected by gas chromatography-mass spectrometry; endosulfan sulfate, which is a persistent and toxic metabolite, was not detected. These results suggested that A. faecalis JBW4 degrades endosulfan via a non-oxidative pathway. The biodegradation of endosulfan by A. faecalis is reported for the first time. Additionally, the present study indicates that strain JBW4 may have potential for the biodegradation of endosulfan residues.     

Safety evaluation and ibuprofen removal via an Alternanthera philoxeroides-based biochar

Environmental Science and Pollution Research - Pharmaceutical and personal care products (PPCPs) are a representative class of emerging contaminants. This study aimed to investigate the PPCP...     

Synthesis of nitrogen-doped carbon nanotubes-FePO4 composite from phosphate residue and its application as effective Fenton-like catalyst for dye degradation

Phosphate residue is regarded as a hazardous waste, which could potentially create significant environmental and health problems if it is not properly treated and disposed of. In this study, nitrogen-doped carbon nanotubes-FePO_4(NCNTs-FePO_4) composite was successfully synthesized from phosphate residue, and its application as an effective catalyst was explored. Firstly, an effective method was developed to recover FePO_4 from phosphate residue, achieving an impressive FePO_4 mass recovery rate of 98.14%. Then, the NCNTsFePO_4 catalyst was synthesized from the recovered FePO_4 by two main reactions, including surface modification and chemical vapor deposition. Finally, the synthesized NCNTs-FePO_4 was applied to photo-degrade 15 mg/L Rhodamine B(RhB) in a Fenton-like system. The results showed that 98.9% of RhB could be degraded in 60 min, closely following the pseudofirst-order kinetics model. It was found that even after six consecutive cycles, NCNTs-FePO_4 still retained a high catalytic capacity(50%). Moreover, ·OH radicals participating in the RhB degradation process were evidenced using quenching experiments and electron paramagnetic resonance analysis, and a rational mechanism was proposed. It was demonstrated that the materials synthesized from hazardous phosphate residue can be used as an effective catalyst for dye removal.     

不同温度条件下高分子固化剂改良砂土的强度特性∗

近年来城市热岛效应越加明显,温度变化对土体性质的影响程度备受关注。通过一系列无侧限抗压强度试验,对高分子固化剂改良砂土在不同温度条件下的抗压强度特性进行了研究,并结合微观扫描电镜对改良砂土的微观结构和改良机理进行了研究。结果表明：在相同温度条件下,高分子固化剂改良砂土的强度和弹性模量随高分子固化剂含量的增加而增大;随着温度的升高,高分子固化剂改良砂土的强度和弹性模量一直保持增强趋势,且当温度达到 35℃后,加入 3% 和 4% 含量的高分子固化剂改良砂土的强度增幅变缓;高分子固化剂溶液均匀分散在砂土中,随着水分挥发,在砂粒之间形成了空间网状固化膜,使得分散的土体连接成为一体,从而提高砂土强度;且随着温度的增加,形成的固化膜强度增强,使得改良砂土强度进一步增加。高分子固化剂在高温条件下对砂土依然具有较好的加固效果,可为高温地区防风固沙加固提供新途径。