Ten principles relevant to health research among Indigenous Australian populations

Writing in the Journal about Indigenous health in 2011, Sir Michael Marmot suggested that the challenge was to conduct research, and to ultimately apply findings from that research, to enable Indigenous Australians to lead more flourishing lives that they would have reason to value.1 As committed Indigenous health researchers in Australia, we reflect Marmot’s ideal — to provide the answers to key questions relating to health that might enable Indigenous Australians to live the lives that they would choose to live.As a group, we have over 120 collective years’ experience in Indigenous health research. Over this time, particularly in recent years as ethical guidelines have come into play, there have been many examples of research done well. However, as the pool of researchers is constantly replenished, we hold persisting concerns that some emerging researchers may not be well versed in the principles of best practice regarding research among Indigenous Australian populations. Implementing any research methodology among Indigenous Australian groups will work best when the following 10 principles are met. These principles are reflected in the many documents related to working and researching with Indigenous Australians; for example, the National Health and Medical Research Council (NHMRC) ethical guidelines for research among Aboriginal and Torres Strait Islander people.2 In this article, we set out these principles in one short, accessible document

A process model for developing learning design patterns with international scope

This paper investigates the process of identifying design patterns in international collaborative learning environments. In this context, design patterns are referred to as structured descriptions of best practice with pre-defined sections such as problem, solution and consequences. We pay special attention to how the scope of a design pattern is identified and articulated. Based on a review of the seminal design patterns literature and current practice in the area of learning design, the lack of a more specific process description for developing patterns with international scope is identified. The paper suggests a process model for developing patterns with international scope. This model is exemplified in a case study that links the analysis of observation in international learning environments to the articulation of design patterns by identifying culturally independent core values that constitute the foundations of a design pattern with international scope. These core values are linked to recurrent learning behaviors and specific artefacts that support learning in the articulation of a design pattern. The findings contribute to gaining a deeper understanding of the pattern scoping and abstraction process in international learning environments

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. METHODS Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1. RESULTS We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 novel mutations. These patients are characterized by congenital or childhood-onset lower limb wasting and weakness frequently associated with cognitive impairment. The clinical severity is variable, ranging from generalized arthrogryposis and inability to ambulate to exclusive and mild lower limb weakness. In many individuals with cognitive impairment (9/30 had cognitive impairment) who underwent brain MRI, there was an underlying structural malformation resulting in polymicrogyric appearance. The lower limb muscle MRI shows a distinctive pattern suggestive of denervation characterized by sparing and relative hypertrophy of the adductor longus and semitendinosus muscles at the thigh level, and diffuse involvement with relative sparing of the anterior-medial muscles at the calf level. Proximal muscle histopathology did not always show classic neurogenic features. CONCLUSION Our report expands the clinical spectrum of DYNC1H1-related SMA-LED to include generalized arthrogryposis. In addition, we report that the neurogenic peripheral pathology and the CNS neuronal migration defects are often associated, reinforcing the importance of DYNC1H1 in both central and peripheral neuronal functions

Proteomics of Buccal Cavity Mucus in Female Tilapia Fish (Oreochromis spp.): A Comparison between Parental and Non-Parental Fish

Mouthbrooding is an elaborate form of parental care displayed by many teleost species. While the direct benefits of mouthbrooding such as protection and transportation of offsprings are known, it is unclear if mouthbrooding offers additional benefits to embryos during incubation. In addition, mouthbrooding could incur negative costs on parental fish, due to limited feeding opportunities. Parental tilapia fish (Oreochromis spp.) display an elaborated form of parental care by incubating newly hatched embryos in oral buccal cavity until the complete adsorption of yolk sac. In order to understand the functional aspects of mouthbrooding, we undertake a proteomics approach to compare oral mucus sampled from mouthbrooders and non-mouthbrooders, respectively. Majority of the identified proteins have also been previously identified in other biological fluids or mucus-rich organs in different organisms. We also showed the upregulation of 22 proteins and down regulation of 3 proteins in mucus collected from mouthbrooders. Anterior gradient protein, hemoglobin beta-A chain and alpha-2 globin levels were lower in mouthbrooder samples. Mouthbrooder oral mucus collectively showed increase levels of proteins related to cytoskeletal properties, glycolytic pathway and mediation of oxidative stress. Overall the findings suggest cellular stress response, probably to support production of mucus during mouthbrooding phase

JNK2 Promotes Endothelial Cell Alignment under Flow

Endothelial cells in straight, unbranched segments of arteries elongate and align in the direction of flow, a feature which is highly correlated with reduced atherosclerosis in these regions. The mitogen-activated protein kinase c-Jun N-terminal kinase (JNK) is activated by flow and is linked to inflammatory gene expression and apoptosis. We previously showed that JNK activation by flow is mediated by integrins and is observed in cells plated on fibronectin but not on collagen or basement membrane proteins. We now show thatJNK2 activation in response to laminar shear stress is biphasic, with an early peak and a later peak. Activated JNK localizes to focal adhesions at the ends of actin stress fibers, correlates with integrin activation and requires integrin binding to the extracellular matrix. Reducing JNK2 activation by siRNA inhibits alignment in response to shear stress. Cells on collagen, where JNK activity is low, align slowly. These data show that an inflammatory pathway facilitates adaptation to laminar flow, thereby revealing an unexpected connection between adaptation and inflammatory pathways

The \u3cem\u3eChlamydomonas\u3c/em\u3e Genome Reveals the Evolution of Key Animal and Plant Functions

Chlamydomonas reinhardtii is a unicellular green alga whose lineage diverged from land plants over 1 billion years ago. It is a model system for studying chloroplast-based photosynthesis, as well as the structure, assembly, and function of eukaryotic flagella (cilia), which were inherited from the common ancestor of plants and animals, but lost in land plants. We sequenced the ∼120-megabase nuclear genome of Chlamydomonas and performed comparative phylogenomic analyses, identifying genes encoding uncharacterized proteins that are likely associated with the function and biogenesis of chloroplasts or eukaryotic flagella. Analyses of the Chlamydomonas genome advance our understanding of the ancestral eukaryotic cell, reveal previously unknown genes associated with photosynthetic and flagellar functions, and establish links between ciliopathy and the composition and function of flagella

Agentic learning: the pedagogical implications of young trans people’s online learning strategies

This paper proposes anew conceptualisation of learning in the age of the internet, increasing systemic rigidity of formal education and intensified media manipulation and partiality. Using empirical data and drawing on Social Activity Method it elaborates the different strategies young trans people recruit in their self-learning and contends that these constitute a type of learning where the control of pedagogy, the learning environment and the subject matter lies to a significant extent, with the learner, taking place in spaces free from the influence of hegemonic transphobia. This type of learning appears to constitute an effective but complex one. As, in this instance, the learning is taking place in a wider cultural environment where the subject matter is often suppressed and subject to ideological misrepresentation by hegemonic control of the public sphere, this study suggests that learning by providing learners with greater control over pedagogy and learning environment is effective