成人先天性角化不良并肺间质纤维化一例并文献复习

人先天性角化不良(dyskeratosis congenita,DC)是一种罕见的先天性中胚层及外胚层发育不良综合征,文献报道,DC发病率约1/1000000[1],属临床罕见病,迄今全球报道病例仅900~1000例[2]。DC主要累及更新较快的组织,如上皮组织、黏膜组织及骨髓组织等,属累及多系统的遗传性疾病。其典型的临床表现为口腔黏膜白斑、皮肤色素沉着和指/趾甲营养不良三联征[3],可累及血液系统、呼吸系统、泌尿生殖系统和自身免疫系统。随着疾病进展,患者可发展为进行性骨髓衰竭、肺纤维化、食管狭窄、尿道狭窄、肝硬化以及血液病和实体恶性肿瘤。临床易误诊和漏诊,现将本院收治的1例成人DC并肺间质纤维化的病例报告如下,并进行文献复习,以提高临床医师对其认识水平。

The different responses of planktonic bacteria and archaea to water temperature maintain the stability of their community diversity in dammed rivers

Background Planktonic bacteria and archaea play a key role in river nutrient biogeochemical cycling;however,their respective community assembly and how to maintain their diversity are not well known in dammed rivers.Therefore,a seasonal survey of planktonic bacterial and archaeal community compositions and related environmental factors was conducted in 16 cascade reservoirs and corresponding river waters on the Wujiang River and the Pearl River in southwest China to understand the above mechanisms.Results Deterministic processes dominated bacterial and archaeal community assembly.The structural equation models showed that water temperature can directly or indirectly affect the microbial diversity.Interestingly,planktonic bacterial diversity increased with increasing water temperature,while archaea showed the opposite trend;the overall diversity of bacteria and archaea was no significant changes with changeable water temperature.Abundant microbes had a stronger distance–decay relationship than middle and rare ones,and the relationship was stronger in winter and spring than in summer and autumn.Conclusions Planktonic bacteria and archaea in dammed rivers had different biogeographic distributions,and water temperature was a key controlling factor.The different responses of planktonic bacterial and archaeal diversity to water temperature could be due to their different phylogenetic diversity.This ultimately maintained the stability of total microbial community diversity.This study reveals the different responses of planktonic bacteria and archaea to water temperature and perfects the theoretical framework for planktonic microbial biogeography in dammed rivers.

The function of small RNAs in plant biotic stress response

Small RNAs（s RNAs） play essential roles in plants upon biotic stress. Plants utilize RNA silencing machinery to facilitate pathogen-associated molecular pattern-triggered immunity and effector-triggered immunity to defend against pathogen attack or to facilitate defense against insect herbivores. Pathogens, on the other hand, are also able to generate effectors and s RNAs to counter the host immune response. The arms race between plants and pathogens/insect herbivores has triggered the evolution of s RNAs,RNA silencing machinery and pathogen effectors. A great number of studies have been performed to investigate the roles of s RNAs in plant defense, bringing in the opportunity to utilize s RNAs in plant protection. Transgenic plants with pathogen-derived resistance ability or transgenerational defense have been generated, which show promising potential as solutions for pathogen/insect herbivore problems in the field. Here we summarize the recent progress on the function of s RNAs in response to biotic stress, mainly in plant-pathogen/insect herbivore interaction,and the application of s RNAs in disease and insect herbivore control.

Realizing enhanced thermoelectric properties in Cu_(2)S-alloyed Sn Se based composites produced via solution synthesis and sintering

Sn Se emerges as one of the most promising Te-free thermoelectric materials due to its strong anharmonicity and multiple valence bands structure.Recently,compositing has been proven effective in optimizing thermoelectric performance of various metal chalcogenides.Herein,a series of Sn Se-x Cu_(2)S(x=0,0.5%,1%,3%,5%)materials have been fabricated via solution synthesis,particle blending,and spark plasma sintering in sequence.After incorporating Cu_(2)S,the materials become Sn Se based composites with Cu doping,S substitution and Cu_(2)Sn Se_(3)secondary phase.We elucidate that the power factor of polycrystalline Sn Se can be tuned and enhanced at varied temperature ranges through adjusting the addition amount of Cu_(2)S.Additionally,the composites achieve suppressed lattice thermal conductivity when compared to Sn Se itself,as the introduced point defects and Sn Se/Cu_(2)Sn Se_(3)interfaces intensify phonon scattering.Consequently,Sn Se-0.5%Cu_(2)S and Sn Se-3%Cu_(2)S achieve a peak z T of 0.70 at 830 K(intermediate temperature range)and a highly increased z T of 0.28 at 473 K(low temperature range),respectively,which are~130%and 200%of values reached by Sn Se at the corresponding temperatures.The study demonstrates that our approach,which combines compositing with elemental doping and substitution,is effective in optimizing the thermoelectric performance of Sn Se at varied temperature ranges.