Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation

AIM: To investigate mitochondrial factors associated with Leber hereditary optic neuropathy (LHON) through complete sequencing and analysis of the mitochondrial genome of Chinese patients with this disease. METHODS: Two unrelated southern Chinese families with LHON and 10 matched healthy controls were recruited, and their entire mitochondrial DNA (mtDNA) was amplified and sequenced with the universal M13 primer. Then DNA sequence analysis and variation identification were performed by DNAssist and Chromas 2 software and compared with authoritative databases such as Mitomap. RESULTS: Mutational analysis of mtDNA in these two Chinese pedigrees revealed one common LHON-associated mutation, G11778A (Arg -> His), in the MT-ND4 gene. In addition, there were two secondary mutations in Pedigree 1: C34971 (Ala -> Val), and C3571T (Leu -> Phe) in the MT-ND1 gene, which have not been reported; and two secondary mutations occurred in Pedigree 2: A10398G (Thr -> Ala) in the MT-ND3 gene, and T14502C (Ile -> Val) in the MT-ND6 gene. Three polymorphisms, A73G, G94A and A263G in the mtDNA control region, were also found. CONCLUSION: Our study confirmed that the known MT-ND4* G11778A mutation is the most significant cause of LHON. The C3497T and C3571T mutations in Pedigree 1 were also both at hot-spots of MT-ND1; they may affect the respiratory chain in coordination with the primary mutation G11778A. In Pedigree 2, the two secondary mutations A10398G of MT-ND3 and T14502C of MT-ND6 may influence mitochondrial respiratory complex I, leading to the mitochondrial respiratory chain dysfunction which results in optic atrophy together with G11778A. Therefore, not only the common primary LHON mutation is responsible for the visual atrophy, but other secondary mtDNA mutations should also be considered when giving genetic counseling.

Characterization of the copper-containing amine oxidase from Trifolium pratense seedlings

We studied the kinetic characterizations of the Trifolium pratense seedlings copper-containing amine oxidase(TPAO) by using various amine-containing substrates.The catalyzing rate for all of amine-containing substrates can be ordered as diamines > polyamines > aromatic monoamines,and it shows an apparent trend in each category of substrates such as the longer the carbon chain,the lower the V_(max) is,so does the V_(max)/K_m values but is opposite for the K_m value of TPAO.The distinct differences between the kinetic parameters for different amine-containing substrates indicated that the rate-determining step of the catalytic reaction strongly depends on the substrate's chemical structure.It is concluded that both pH and ionic strength can affect the catalytic activity of TPAO via influencing the coulomb interaction-mediated enzyme-substrate docking processes,which can be attributed to the potential of charged groups from both substrates and the activity sites of TPAO by the regulation of ionic strength.

Preparation and upconversion luminescence of YVO_4:Er^(3+),Yb^(3+)

YVO4：Er^3＋,Yb^3＋ with varying Yb^3＋ concentrations were prepared by a precipitation method.The results of X-ray diffraction （XRD） show that all the samples have a tetragonal zircon structure; the calculated average crystallite sizes are in the range of 14-22 nm.The lattice constants and cell volume of the samples decrease slightly with the increase in Yb^3＋ concentration.The upconversion luminescence spectra of all the samples were studied under 980 nm laser excitation.The strong green emission is observed,which is attributed to the 2^H11/2→4I15/2 and 4^S3/2→4^I15/2 transitions of Er^3＋,and the red emission peaks in 650-675 nm can be ignored.The emission intensity for the sample depends on the Yb^3＋concentration.These results reveal that the upconversion processes of YVO4：Er^3＋,Yb^3＋ are related to the structure and the doping Yb^3＋ concentration of the sample.

The Role of Processing Solvent on Morphology Optimization for Slot-Die Printed Organic Photovoltaics

The morphology manipulation of the active layers is important for improving the performance of organic photovoltaics(OPVs).The choice of processing solvent has great impact on the crystallization and phase separation during film formation,since solvent properties,including solvent effect on molecular crystallization,boiling point,and interaction parameters,can directly change the evolution pathways associated with thermodynamics and kinetics.Therefore,revealing the underlying solvent-regulated morphology mechanism is potential to provide guiding strategies for device optimization.In this study,chloroform,chlorobenzene,and toluene are used to process PM6:Y6 blends by slot-die printing to fabricate OPV devices.The chloroform printed film forms a fibrillar network morphology with enhanced crystallization,facilitating exciton dissociation,charge transport and extraction,resulting in an optimal power conversion efficiency of 16.22%.However,the addition of the additive chloronaphthalene in chloroform solution leads to over-crystallization of Y6,and thus,increasing domain size that exceeds the exciton diffusion length,resulting in lower device efficiency.In addition,both the chlorobenzene and toluene suppress the crystallization of Y6,which drastically decreased short-circuit current and fill factor.These results demonstrate the important role of processing solvent in dictating film morphology,which critically connects with the resultant printed OPV performance.

有机薄膜光伏电池印刷制备与原位形貌检测

有机共混薄膜的干燥过程直接影响最终的内部形貌,通过原位散射的技术,可以实时监测薄膜生长过程中的形貌细节,从而进行形貌的研究和调控.通过合理设计和运行原位检测系统,探究了高效率PTB7-th:PC71BM共混薄膜干燥过程中聚合物分子的结晶行为,以及添加剂1,8-diiodooctane (DIO)的加入对形貌调控产生作用.同时,通过集成在系统中的印刷设备制备的印刷器件获得了接近9%的转换效率,具有较大的科学和商业价值.

Long-term comparison of full-bed deep anterior lamellar keratoplasty and penetrating keratoplasty in treating keratoconus

Objective: To compare postoperative outcomes of full-bed deep anterior lamellar keratoplasty (DALK) with penetrating keratoplasty (PK) in treating keratoconus. Methods: Seventy-five eyes of 64 patients who received full-bed DALK and 52 eyes of 51 patients who received PK between June 2000 and August 2010 were included in this retrospective study. Full-bed DALK was performed using Yao's hooking-detaching technique. PK was performed using a standard technique. Intraoperative and postoperative complications, visual acuity, rejection, graft survival, endothelial cell density, corneal sensation recovery, and re-innervation were compared between the two groups. Results: A best correct visual acuity of 0.5 or better was achieved in 90.7% of eyes after full-bed DALK and in 92.3% of eyes after PK (P=0.75). By the fifth postoperative year, graft endothelial cell loss reached 34.6% in the PK group vs. 13.9% in the full-bed DALK group (P<0.001). There were no statistical differences in corneal sensitivity recovery or corneal re-innervation between the groups (P>0.05). Intraoperative microperforation occurred in seven out of 75 (9.3%) eyes with a temporally postoperative double anterior chamber in two eyes in the full-bed DALK group. Postoperative complications in the PK vs. the full-bed DALK groups respectively were: rejection (7.7% vs. 0%, P=0.015), high intraocular pressure (IOP) (46.2% vs. 1.3%, P<0.001), secondary glaucoma (9.6% vs. 0%, P=0.006), complicated cataract (19.2% vs. 0%, P<0.001), and wound dehiscence (9.6% vs. 0%, P=0.006). Conclusions: Both full-bed DALK and PK can offer long-term satisfactory visual outcomes for keratoconus. Graft rejection, secondary glaucoma, complicated cataracts, and constant endothelial cell loss were observed in eyes only after PK.

Crystallization-induced phosphorescence of pure organic luminogens

This review summarizes the recent progress of efficient room temperature phosphorescence（RTP） from pure organic luminogens achieved by crystallization-induced phosphorescence（CIP）,with focus on the advances in our group.Besides homocrystals,mixed crystals and cocrystals are also discussed.Meanwhile,intriguing RTP emission from the luminogens without conventional chromophores is demonstrated.

功能薄膜形貌表征技术

功能薄膜在光电器件、燃料电池、储能电池、气体分离、微电子及生物医学等领域表现出极大的应用潜力,成为学术界和工业界的研究重点.理解薄膜内部形貌形成机理,调控结晶行为和相分离结构,是提高薄膜器件性能的重要途径.散射技术,包括同步辐射X射线广角/小角散射(GIWAXS/GISAXS)、小角中子散射(SANS)、共振软X射线散射(RSoXS),作为表征薄膜内部微纳结构的有效手段,不仅可以研究薄膜材料的结晶行为,包括结晶强度、分子堆积方式和取向性质,还可以研究薄膜内的相分离行为和界面取向与粗糙度等结构细节.同时,原位散射技术可以实时检测薄膜形貌的形成过程,对理解非平衡态形貌形成机制具有重要意义.本文不仅总结了GIWAXS、GISAXS、SANS、RSoXS和原位散射技术的基本工作原理,还通过经典案例详尽地介绍了各形貌表征技术的功能和数据解析过程,为科研工作者快速选择合适的形貌表征技术提供指导作用.

Aggregation-induced phosphorescence and mechanochromic luminescence of a tetraphenylethene-based gold(Ⅰ) isocyanide complex

In this study,a new twisting gold（Ⅰ） isocyanide complex based on tetraphenylethene（TPE）,TPE-NC-Au.was designed and synthesized.It exhibits aggregation induced phosphorescence（AIP） characteristics,owing to the incorporation of Au moiety and conformation rigidification in the aggregated states.Moreover,the emission color of the crystalline solid of TPE-NC-Au changes from blue（454 nm） to green（500 nm） in response to mechanical grinding,due to the combined effects of conformation planarization,enhanced π…π stacking,as well as the emergence of aurophilic interactions in the ground amorphous state.Notably,the emission color can be restored upon solvent fuming,associating with the reconstruction of crystalline lattices.The AIP and switchable mechanochromism of TPE-NC-Au make it suitable for potential applications in bioimaging,sensing,and optoelectronic devices.

Unraveling the Effect of Solvent Additive and Fullerene Component on Morphological Control in Organic Solar Cells

The manipulation of the morphology of the active layers is crucial for improving the performance of organic photovoltaic(OPV)devices. In particular, the development of non-fullerene acceptors(NFAs) has led to a large number of new materials with more complex interactions. Therefore, the investigation on the morphology control mechanism is the key aspect in providing guidance for material design and device optimization. In this study, the film morphology optimization using 1,8-diiodooctane(DIO) additive and a ternary fullerene acceptor strategy have been carried out based on the PCE10:ITIC blends. It is seen that suitable amount of DIO helps to increase the crystallization of the blended thin film. However, excessive DIO elevates the crystallization-induced phase separation and the domain size can exceed the exciton diffusion length, leading to efficiency drop. The addition of fullerene acceptor can improve the carrier transport of the blends, and its presence could retard the excessive phase separation induced by DIO additive. Under the joint optimization of the solvent additive and PCBM acceptor,the film morphology achieves a balance between crystallization and phase separation scales, the exciton diffusion and carrier transport are also optimized, and the short-circuit current(JSC) and fill factor(FF) of the device can be improved significantly.