稀土对甘蔗增产增糖机理的探讨

以盆栽试验为主,结合大田生产试验来研究稀土微肥对甘蔗增产增糖的机理。研究结果表明,稀土能提高甘蔗叶片叶绿素含量,改善叶片的超微结构,增加叶肉细胞和维管束鞘细胞的叶绿体数,增加叶肉细胞叶绿体中的基粒数和基粒片层数,增大叶片光合膜面积,能促进根系生长,提高根系活力,促进根系对N、P、K等营养元素的吸收;能提高甘蔗体内K、Ca、Zn、Cu等元素的水平,而相对降低Mn、Na等元素的水平;能提高甘蔗伸长期叶片酸性转化酶活性,降低成熟期叶片酸性转化酶活性,提高伸长期及成熟期叶片中性转化酶活性,协调甘蔗的生长和蔗糖分的积累,能调节细胞的渗透压,维持细胞膜结构和功能的稳定性和完整性,增强细胞壁的伸缩性,提高甘蔗的抗旱性;能改善质膜的透性,提高其选择吸收能力,减轻高浓度Na~+的毒害,提高甘蔗的耐盐能力。     

年龄与Casson粘度和Casson屈服值的关系

健康人 43例为对象．观察了其 Caｓson粘度（CV）和 Casson屈服值（CY）与年龄的关系。结果提示；随着年龄的增长，ＣＶ逐渐升高，而ＣＹ在组无显著差异．我们认为，老年人ＣＶ高可能是心脑血管病的易患因素之一．     

Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice

Although genetic revolution of recent years has vastly expanded a list of genes implicated in epilepsies, complex architecture of epilepsy genetics is still largely unknown, consequently, universally accepted workflows for epilepsy genetic testing in a clinical practice are missing. We present a comprehensive NGS‐based diagnostic approach addressing both the clinical and genetic heterogeneity of disorders involving epilepsy or seizures. A bioinformatic panel of 862 epilepsy‐ or seizure‐associated genes was applied to Mendeliome (4813 genes) or whole‐exome sequencing data as a first stage, while the second stage included untargeted variant interpretation. Eighty‐six consecutive patients with epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations were investigated. Of the 86 probands, 42 harbored pathogenic and likely pathogenic variants, giving a diagnostic yield of 49%. Two patients were diagnosed with pathogenic copy number variations and 2 had causative mitochondrial DNA variants. Eleven patients (13%) were diagnosed with diseases with specific treatments. Besides, genomic approach in diagnostics had multiple additional benefits due to mostly non‐specific, overlapping, not full‐blown phenotypes and abilities to diagnose novel and ultra rare epilepsy‐associated diseases. Likely pathogenic variants were identified in SOX5 gene, not previously associated with epilepsy, and UBA5, a recently associated with epilepsy gene.     

卡森(Casson)粘度与卡森屈服值

血液的流变特性遵从卡森方程。卡森粘度与卡森屈服值为方程的两个重要宏观参数，本文研究出卡森粘度的物理意义，即随着切变率的增加，血液表观粘度下降所应达到的下限值．同时给出锥板粘度计测定血液表观粘度可信性的判据，以及卡森粘度与卡森屈服值的推算方法．卡森粘度与红细胞变形性相关，卡森屈服值与红细胞聚集性相关。通过这两方面研究，有利于阐明疾病的血液流变学机理。     

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

Neuromuscular diseases (NMDs) include a broad range of disorders affecting muscles, nerves and neuromuscular junctions. Their overlapping phenotypes and heterogeneous genetic nature have created challenges in diagnosis which calls for the implementation of massive parallel sequencing as a candidate strategy to increase the diagnostic yield. In this study, total of 45 patients, mostly offspring of consanguineous marriages were examined using whole exome sequencing. Data analysis was performed to identify the most probable pathogenic rare variants in known NMD genes which led to identification of causal variants for 33 out of 45 patients (73.3%) in the following known genes: CAPN3, Col6A1, Col6A3, DMD, DYSF, FHL1, GJB1, ISPD, LAMA2, LMNA, PLEC1, RYR1, SGCA, SGCB, SYNE1, TNNT1 and 22 novel pathogenic variants were detected. Today, the advantage of whole exome sequencing in clinical diagnostic strategies of heterogeneous disorders is clear. In this cohort, a diagnostic yield of 73.3% was achieved which is quite high compared to the overall reported diagnostic yield of 25% to 50%. This could be explained by the consanguineous background of these patients and is another strong advantage of offering clinical exome sequencing in diagnostic laboratories, especially in populations with high rate of consanguinity.     

Activation of Big Grain1 significantly improves grain size by regulating auxin transport in rice

Grain size is one of the key factors determining grain yield. However, it remains largely unknown how grain size is regulated by developmental signals. Here, we report the identification and characterization of a dominant mutant big grain1 (Bg1-D) that shows an extra-large grain phenotype from our rice T-DNA insertion population. Overexpression of BG1 leads to significantly increased grain size, and the severe lines exhibit obviously perturbed gravitropism. In addition, the mutant has increased sensitivities to both auxin and N-1-naphthylphthalamic acid, an auxin transport inhibitor, whereas knockdown of BG1 results in decreased sensitivities and smaller grains. Moreover, BG1 is specifically induced by auxin treatment, preferentially expresses in the vascular tissue of culms and young panicles, and encodes a novel membrane-localized protein, strongly suggesting its role in regulating auxin transport. Consistent with this finding, the mutant has increased auxin basipetal transport and altered auxin distribution, whereas the knockdown plants have decreased auxin transport. Manipulation of BG1 in both rice and Arabidopsis can enhance plant biomass, seed weight, and yield. Taking these data together, we identify a novel positive regulator of auxin response and transport in a crop plant and demonstrate its role in regulating grain size, thus illuminating a new strategy to improve plant productivity.Because it is one of the most important staple food crops cultivated worldwide, improvement of grain yield is a major focus of rice-breeding programs (1). Grain size is one of the determining factors of grain yield (2, 3). A number of quantitative trait loci (QTLs) controlling rice grain size have been identified in recent years (4–11). However, functional mechanisms of these genes remain largely unknown. Because QTLs usually have important functions in determining grain size, many of them have been widely selected in breeding processes or existed in modern elite varieties, and a certain QTL could be only applicable in certain varieties (12). Thus, exploration of new grain size-associated genes and elucidation of their functional mechanisms have great significance for further improvement of rice yield (12).Seed size, as well as other organ size, is controlled by various plant hormones, such as auxin, brassinosteroid, and cytokinin (10, 13, 14). A number of studies have demonstrated that auxin plays a vital role in organ size determination by affecting cell division, cell expansion, and differentiation (15–17). Auxin exists predominantly as indole-3-acetic acid (IAA) in plants, and genetic studies of its biosynthetic genes in Arabidopsis have demonstrated that IAA regulates many aspects of plant growth and development, including stem elongation, lateral branching, vascular development, and tropic growth responses (18, 19). Combined with biochemical studies, the tryptophan (Trp)-dependent IAA biosynthesis pathway has been clearly established involving the YUCCA family flavin monooxgenases (20). Importantly, the two-step pathway is highly conserved throughout the plant kingdom (21). Until very recently, the Trp-independent auxin biosynthetic pathway was elucidated as contributing to early embryogenesis in Arabidopsis (22). Primary auxin signaling is a rapid process initiated from the hormone perception by receptor TIR1, an F-box protein, followed by degradation of the negative regulator AUX/IAA proteins, and further release the downstream auxin response factors (ARFs) (23–26). However, how the ARFs work in plants remains elusive. Auxin transport, generally referring to the cell-to-cell transportation of the hormone directed basipetally from shoots to roots in vascular tissues, plays a critical role in auxin response (18). The transport involves a number of membrane-associated proteins, such as PINs (protein inhibitor of nNOS), AUX1 (AUXIN TRANSPORTER PROTEIN 1), and ABCBs (ATP-BINDING CASSETTE, SUB-FAMILY B PROTEINS) as efflux or influx carriers (27–30). Disruption of auxin transport induced by either gene mutations or chemical inhibitor treatment will lead to diverse development defects, such as decreased lateral organ initiation and defective tropic growth responses (27, 31–34).In this study, we identify a rice mutant, named big grain1-D (Bg1-D) because it is a dominant mutant having extralarge grain size. BG1 encodes a novel plasma membrane-associated protein, and is specifically induced by auxin treatment. We show that BG1 is a new positive regulator of auxin response involved in auxin transport, and demonstrate that manipulation of BG1 expression can greatly improve grain size and plant productivity.     

烫骨碎补配方颗粒的提取工艺优选及其含量测定

目的:优选烫骨碎补配方颗粒的提取工艺,建立柚皮苷的含量测定方法,为有效控制该制剂的质量提供参考。方法:以柚皮苷提取量和出膏率为综合评价指标,采用正交试验考察加水量、提取时间和提取次数对烫骨碎补配方颗粒提取工艺的影响。采用HPLC测定柚皮苷含量,流动相甲醇-乙酸-水(35∶4∶65),检测波长283 nm。结果:最佳提取工艺为浸泡0.5h,加10,8倍量水提取2次,每次0.5 h;柚皮苷质量分数0.77%,出膏率12.6%。柚皮苷在0.063~1.575μg与峰面积呈良好线性关系,平均加样回收率100.70%,RSD 1.2%;暂定本品配方颗粒每1 g含柚皮苷≥5.0 mg。结论:该提取工艺和含量测定方法稳定可行,有效成分提取效率高,为烫骨碎补配方颗粒的生产和质量控制提供参考。     

复原膏应用于自然分娩产后34例临床研究

目的:观察复原膏应用于自然分娩产妇产后的临床疗效。方法:将68例自然分娩产妇随机分为对照组和观察组各34例,对照组给予产妇常规治疗,观察组在对照组治疗的基础上给予复原膏口服,治疗7 d观察产妇的泌乳量和子宫复原情况。结果:观察组产妇平均每日的泌乳量正常者27例,泌乳不足者4例,缺乳者3例,对照组产妇正常者18例,泌乳不足者13例,缺乳者3例,观察组产妇每日的泌乳量多于对照组,差异具有统计学意义(P0.01);观察组56 d内子宫复原32例,对照组24例,观察组产妇子宫复原情况的疗效好于对照组,差异具有统计学意义(P0.01)。结论:复原膏不但可提高产妇的泌乳量而且可以提高产妇子宫复原率,这有利于产妇身体的恢复和婴儿的成长,疗效显著。