Candidate gene association studies : a comprehensive guide to useful in silico tools

The candidate gene approach has been a pioneer in the field of genetic epidemiology, identifying risk alleles and their association with clinical traits. With the advent of rapidly changing technology, there has been an explosion of in silico tools available to researchers, giving them fast, efficient resources and reliable strategies important to find casual gene variants for candidate or genome wide association studies (GWAS). In this review, following a description of candidate gene prioritisation, we summarise the approaches to single nucleotide polymorphism (SNP) prioritisation and discuss the tools available to assess functional relevance of the risk variant with consideration to its genomic location. The strategy and the tools discussed are applicable to any study investigating genetic risk factors associated with a particular disease. Some of the tools are also applicable for the functional validation of variants relevant to the era of GWAS and next generation sequencing (NGS).

Studies of the phase evolution of YBCO materials with different additives

Y123 samples with varying amounts of added Y211, PtO 2 and CeO 2 have been melt processed and quenched from temperatures between 960°C and 1100°C. The microstructures of the quenched samples have been characterized using a combination of x-ray diffractometry, optical microscopy, scanning electron microscopy, microprobe analysis, energy-dispersive x-ray spectroscopy and wavelength-dispersive x-ray spectroscopy. The Ba-Cu-O-rich melt undergoes complex changes as a function of temperature and time. A region of stability of BaCuO 2 (BC1) and BaCu 2O 2 (BC2) exists below 1040°C in samples of Y123 + 20 mol% Y211. Ba 2Cu 3O 5 is stabilized by rapid quenching but appears to separate into BC1 and BC2 at lower quenching rates. PtO 2 and CeO 2 additions affect the distribution and volume fractions of the two Ba-Cu-oxide phases.

Higher harmonic large-amplitude fourier transformed alternating current voltammetry : analytical attributes derived from studies of the oxidation of ferrocenemethanol and uric acid at a glassy carbon electrode

An analytical evaluation of the higher ac harmonic components derived from large amplitude Fourier transformed voltammetry is provided for the reversible oxidation of ferrocenemethanol (FcMeOH) and oxidation of uric acid by an EEC mechanism in a pH 7.4 phosphate buffer at a glassy carbon (GC) electrode. The small background current in the analytically optimal fifth harmonic is predominantly attributed to faradaic current associated with the presence of electroactive functional groups on the GC electrode surface, rather than to capacitive current which dominates the background in the dc, and the initial three ac harmonics. The detection limits for the dc and the first to fifth harmonic ac components are 1.9, 5.89, 2.1, 2.5, 0.8, and 0.5 µM for FcMeOH, respectively, using a sine wave modulation of 100 mV at 21.46 Hz and a dc sweep rate of 111.76 mV s−1. Analytical performance then progressively deteriorates in the sixth and higher harmonics. For the determination of uric acid, the capacitive background current was enhanced and the reproducibility lowered by the presence of surface active uric acid, but the rapid overall 2e− rather than 1e– electron transfer process gives rise to a significantly enhanced fifth harmonic faradaic current which enabled a detection limit of 0.3 µM to be achieved which is similar to that reported using chemically modified electrodes. Resolution of overlapping voltammetric signals for a mixture of uric acid and dopamine is also achieved using higher fourth or fifth harmonic components, under very low background current conditions. The use of higher fourth and fifth harmonics exhibiting highly favorable faradaic to background (noise) current ratios should therefore be considered in analytical applications under circumstances where the electron transfer rate is fast.

Experimental studies of hollow flange channel beams subject to combined bending and shear actions

This paper presents the details of an experimental study of a cold-formed steel hollow flange channel beam known as LiteSteel Beam (LSB) subject to combined bending and shear actions. The LSB sections are produced by a patented manufacturing process involving simultaneous cold-forming and electric resistance welding. Due to the geometry of the LSB, as well as its unique residual stress characteristics and initial geometric imperfections resultant of manufacturing processes, much of the existing research for common cold-formed steel sections is not directly applicable to LSB. Experimental and numerical studies have been carried out to evaluate the behaviour and design of LSBs subject to pure bending actions and predominant shear actions. To date, however, no investigation has been conducted into the strength of LSB sections under combined bending and shear actions. Combined bending and shear is especially prevalent at the supports of continuous span and cantilever beams, where the interaction of high shear force and bending moment can reduce the capacity of a section to well below that for the same section subject only to pure shear or moment. Hence experimental studies were conducted to assess the combined bending and shear behaviour and strengths of LSBs. Eighteen tests were conducted and the results were compared with current AS/NZS 4600 and AS 4100 design rules. AS/NZS 4600 design rules were shown to grossly underestimate the combined bending and shear capacities of LSBs and hence two lower bound design equations were proposed based on experimental results. Use of these equations will significantly improve the confidence and cost-effectiveness of designing LSBs for combined bending and shear actions.

Incorporating translation in qualitative studies : two case studies in education

Cross-language qualitative research in education continues to increase. However, there has been inadequate discussion in the literature concerning the translation process that ensures research trustworthiness applicable for bilingual researchers. Informed by the literature on evaluation criteria for qualitative data translation, this paper compares two different procedures for incorporating translation in education qualitative research to provide a clear depiction of the complexities involved in translating qualitative data and the strengths and weaknesses of each procedure. To maintain the trustworthiness of the qualitative research, it is necessary to minimise translation errors, provide detailed accounts of the translation process, involve more than one translator and remain open to scrutiny from those seeking to access the translation process. Taking into account the resource constraints often faced by novice qualitative researchers, this paper provides some strategies that can be employed in similar contexts.

Gender studies : Intersex by Catherine Harper

Intersex is the condition whereby an individual is born with biological features that are simultaneously perceived as male and female. Ranging from the ambiguous genitalia of the true 'hermaphrodite' to the 'mildly or internally intersexed', the condition may be as common as cleft palate. Like cleft palate, it is hidden and surgically altered, but for very different reasons. Intersex draws heavily on the personal testimony of intersexed individuals, their loved ones and medical carers. The impact of early sex-assignment surgery on an individual's later life is examined within the context of ethical and clinical questions. Harper challenges the conventional and radical 'treatment' of intersexuality through non-consensual infant sex-assignment surgery. In doing so, she exposes powerful myths, taboos and constructions of gender - the perfect phallus, a bi-polar model of gender and the infallibility of medical decisions. Handling sensitive material with care, this book deepens our understanding of a condition that has itself only been medically understood in recent years.

Validation of β-actin used as endogenous control for gene expression analysis in mechanobiology studies : amendments

We write in response to the letter by Liu et al. [1] commenting on our article, ‘‘Mesenchymal Stem Cells Regulate Angiogenesis According to Their Mechanical Environment’’ [2]. The study by Liu et al. demonstrates that the commonly used endogeneous reference gene (ERG), b-actin, is upregulated by mechanical loading, indicating a potential bias in the determined target gene expression when normalizing to b-actin, such as in our report on unchanged vascular endothelial growth factor (VEGF) and hypoxia-inducible factors (HIF)-1a mRNA levels in mechanically loaded mesenchymal stem cells (MSCs).

Lesson studies in Chinese kindergartens

Lesson studies are a powerful form of professional development (Doig and Groves, 2011). The processes of creating, enacting, analyzing, and refining lessons to improve teaching practices are key components of lesson studies. Lesson studies have been the primary form of professional development in Japanese classrooms for many years (Lewis, Perry and Hurd, 2009). This model is now used to improve instruction in many South-East Asian countries (White and Lim, 2008), as well as increasingly in North America (Lesson Study Research Group, 2004), and South Africa (Ono and Ferreira, 2010). In China, this form of professional development aimed at improving teaching, has also been adopted, originating from Soviet models of teacher professional development arising from influences post 1949 (China Education Yearbook, 1986). Thus, China too has a long history of improving teaching and learning through this form of school-based professional learning.

End-of-life care in the intensive care unit : a systematic review of qualitative studies investigating the experiences and perceptions of the patient's family

Review question/objective The review objective is to synthesise the best available evidence on experiences and perceptions of family members of intensive care unit patients on the adequacy of end-of-life care, where life-support modalities have been withheld or withdrawn. Inclusion criteria Types of participants This review will consider studies that report on the experiences and perceptions of patients’ families on EOLC in the ICU, where life-support modalities have been withheld or withdrawn. The family is defined as “those who are closest to the patient... the family may include the biological family, family by acquisition, and the family of choice and friends”. Phenomena of interest The phenomena of interest for this review are the patients’ families experiences, perceptions or views on the adequacy of EOLC delivered in the ICU, where life-support modalities were withheld or withdrawn. These experiences may refer to the following views on domains of care considered important at the end-of-life in the ICU, which have been described already in the existing literature: timely, consistent, and compassionate communication, clinician availability, clinical decision making based on patients’ preferences, goals and values, physical care implemented to maintain patient comfort, holistic interdisciplinary care and bereavement care for families of patients who died.

The strange death and curious after-lives of the academic journal

Discussion at a session featuring a panel of editors of six leading media and communication journals. Annual conference of the Australian and New Zealand Communication Association, University of Melbourne, July 2007.

Feminist crime fiction : an examination of embodied feminist intentions in Denise Mina’s The Field of Blood (2005)

The writing of award winning tartan noir author, Denise Mina, “crime queen of Glasgow” has been identified with “explicitly feminist politics,” and Mina herself claims, as a feminist, she wants to use crime fiction to present a “narrative about very disempowered people becoming empowered.” This paper explores how Mina’s avowed stance on feminism plays out in her novel, The Field of Blood (2005), and examines whether her concerns are reflected in the embodied actions of her young protagonist, would-be investigative journalist, Paddy Meehan. It asks whether Mina has succeeded in working against entrenched patriarchal codes of crime fiction’s dominant narrative construction or whether her feminist intentions have been undermined by traditional stereotypical conventions of the genre.