High density of ‘spiky’ excrescences covering the surface of an erythrocyte infected with Plasmodium malariae

10.1111/j.1365-2141.2010.08261.xBritish Journal of Haematology15111-BJHE

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.Funding for the project was provided by the Wellcome Trust for UK10K (WT091310) and DDD Study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003] - see www.ddduk.org/access.html for full acknowledgement. This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute and the Common Fund, NIH Office of the Director. This work was supported in part by the German Ministry of Research and Education (grant nos. 01GS08160 and 01GS08167; German Mental Retardation Network) as part of the National Genome Research Network to A.R. and D.W. and by the Deutsche Forschungsgemeinschaft (AB393/2-2) to A.R. Brain expression data was provided by the UK Human Brain Expression Consortium (UKBEC), which comprises John A. Hardy, Mina Ryten, Michael Weale, Daniah Trabzuni, Adaikalavan Ramasamy, Colin Smith and Robert Walker, affiliated with UCL Institute of Neurology (J.H., M.R., D.T.), King’s College London (M.R., M.W., A.R.) and the University of Edinburgh (C.S., R.W.)

Evaluation of appendicitis risk prediction models in adults with suspected appendicitis

Background Appendicitis is the most common general surgical emergency worldwide, but its diagnosis remains challenging. The aim of this study was to determine whether existing risk prediction models can reliably identify patients presenting to hospital in the UK with acute right iliac fossa (RIF) pain who are at low risk of appendicitis. Methods A systematic search was completed to identify all existing appendicitis risk prediction models. Models were validated using UK data from an international prospective cohort study that captured consecutive patients aged 16–45 years presenting to hospital with acute RIF in March to June 2017. The main outcome was best achievable model specificity (proportion of patients who did not have appendicitis correctly classified as low risk) whilst maintaining a failure rate below 5 per cent (proportion of patients identified as low risk who actually had appendicitis). Results Some 5345 patients across 154 UK hospitals were identified, of which two‐thirds (3613 of 5345, 67·6 per cent) were women. Women were more than twice as likely to undergo surgery with removal of a histologically normal appendix (272 of 964, 28·2 per cent) than men (120 of 993, 12·1 per cent) (relative risk 2·33, 95 per cent c.i. 1·92 to 2·84; P < 0·001). Of 15 validated risk prediction models, the Adult Appendicitis Score performed best (cut‐off score 8 or less, specificity 63·1 per cent, failure rate 3·7 per cent). The Appendicitis Inflammatory Response Score performed best for men (cut‐off score 2 or less, specificity 24·7 per cent, failure rate 2·4 per cent). Conclusion Women in the UK had a disproportionate risk of admission without surgical intervention and had high rates of normal appendicectomy. Risk prediction models to support shared decision‐making by identifying adults in the UK at low risk of appendicitis were identified

Variations of fish composition and diversity related to environmental variables in shallow lakes in the Yangtze River basin

Variations in fish communities of shallow lakes in the Yangtze basins were investigated from September 2007 to September 2009. Six lakes were chosen for comparative study of species composition and diversity in relation to environmental variations. Lake heterogeneity was described with environmental physico-chemical variables, using principal component analysis. Sixteen families, composed of 75 species of fish were found in the studied lakes, Cyprinidae being the dominant group. Fish species were divided by habitat preference and trophic guild: benthopelagic and herbivorous fish were the most common guilds in all lakes. Species diversity and richness were significantly higher in spring, while the evenness, expressed by equitability of Simpson’s index, was not significantly different among seasons. Species richness and diversity were significantly higher in vegetated lakes (e.g. Liangzihu Lake) than in non-vegetated lakes (e.g. Biandantang Lake), with the largest area (Liangzihu Lake) harbouring the largest species richness and the greatest diversity. The relationship between environmental variables and fish assemblage were analysed using canonical correspondence analysis (CCA). The dominant gradients describing species composition and abundance among the sampling sites were: total phosphorus, total nitrogen, chlorophyll a, transparency and water depth. Our study led to the following conclusions: 1) the water quality was better - i.e. high transparency, low total phosphorus (TP) and total nitrogen (TN) and chlorophyll a- in vegetated lakes than in unvegetated lakes; 2) vegetated lakes had higher fish diversity than unvegetated lakes; 3) fish relative abundance (CPUE: number of fish per fishing pass) was significantly related to water chemical parameters. Consequently, the details of the findings are useful and relevant for developing suitable conservation strategies to sustain the integrity of fish communities in these lakes

Community structure of small fishes in a shallow macrophytic lake (Niushan Lake) along the middle reach of the Yangtze River, China

This study describes the current status of the small fish community in Niushan Lake in China, and examines the spatial and seasonal variations of the community in relation to key environmental factors. Based on macrophyte cover conditions, the lake was divided into three major habitat types: (1) Potamogeton maackianus habitat, (2) Potamogeton maackianus and Myriophyllum spicatum habitat, and (3) uncovered or less-covered habitat. Fish were sampled quantitatively in the three habitat types by block nets seasonally from September 2002 to August 2003. A total of 10 469 individuals from 27 fish species were caught, among which 20 species were considered as small fishes. Rhodeus ocellatus, Paracheilognathus imberbis, Pseudorasbora parva, Micropercops swinhonis and Cultrichthys erythropterus were recognized as dominant small fishes according to their abundance and occurrence. It was noted that (1) small fishes predominated the total number of fish species in the lake, which reflected to some degree the size diminution phenomenon of fish resources; (2) many small fishes had plant detritus as their food item, which was consistent with the abundance of macrophyte detritus in the lake and implied the importance of detritus in supporting small fish secondary production. Canonical correspondence analysis suggested that the spatial distributions of most small fishes were associated with complex macrophyte cover conditions. Macrophyte biomass was positively correlated with species richness, diversity index and the catch per unit of effort (CPUE) of the fish community. Water depth had no significant effects on species diversity and distribution of the small fishes. Correspondence analysis revealed a higher occurrence of the small fishes and higher abundance of individuals in summer and autumn. Seasonal length-frequency distributions of several species indicated that more larval and juvenile individuals appeared in spring and summer. This study provides some baseline information which will be essential to long-term monitoring of small fish communities in the Yangtze lakes

A study on the preference for leadership and management with personality traits and values as antecedents

The terms leadership and management have often been used interchangeably. Despite certain similarities, both terms have distinctly different origins and specific meanings. In view of this, our study aims to empirically examine the differences and establish them as distinct but related constructs. In addition, we will examine the practical usage of this by exploring the preference for leadership and managerial roles with personality and values as antecedents. A survey questionnaire to measure leadership and management preferences was developed through a pilot study. Together with established measures of personality traits and values, a web-based survey was administered to NTU students. Results from 582 participants showed that leadership and management are indeed distinct but related: personality traits have a relatively stronger relationship with one’s preference for leadership than management, while values have a relatively stronger relationship with one’s preference for management. Furthermore, the findings also showed that personality traits such as agreeableness, extraversion, and openness to experience, and values of collectivism had the greatest correlation with leadership, while personality traits such as conscientiousness, uncertainty avoidance, and collectivism values correlated higher with management. Limitations and directions for future studies are also discussed, such as conducting the research with working adults, who have more exposure to leadership and managerial experiences.BUSINES

Suppression of nitridation-induced interface traps and hole mobility degradation by nitrogen plasma nitridation

10.1149/1.1459682Electrochemical and Solid-State Letters54G26-G28ESLE