153 research outputs found
The Role of FRMD7 in Idiopathic Infantile Nystagmus
Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease. Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton
Zebrafish Optokinetic Reflex: Minimal Reporting Guidelines and Recommendations
Optokinetic reflex (OKR) assays in zebrafish models are a valuable tool for studying a diverse range of ophthalmological and neurological conditions. Despite its increasing popularity in recent years, there are no clear reporting guidelines for the assay. Following reporting guidelines in research enhances reproducibility, reduces bias, and mitigates underreporting and poor methodologies in published works. To better understand optimal reporting standards for an OKR assay in zebrafish, we performed a systematic literature review exploring the animal, environmental, and technical factors that should be considered. Using search criteria from three online databases, a total of 109 research papers were selected for review. Multiple crucial factors were identified, including larval characteristics, sample size, fixing method, OKR set-up, distance of stimulus, detailed stimulus parameters, eye recording, and eye movement analysis. The outcome of the literature analysis highlighted the insufficient information provided in past research papers and the lack of a systematic way to present the parameters related to each of the experimental factors. To circumvent any future errors and champion robust transparent research, we have created the zebrafish optokinetic (ZOK) reflex minimal reporting guideline
Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant
Background The genetic basis of monocular elevation deficiency (MED) is unclear. It has previously been considered to arise due to a supranuclear abnormality.Methods Two brothers with MED were referred to Leicester Royal Infirmary, UK from the local opticians. Their father had bilateral ptosis and was unable to elevate both eyes, consistent with the diagnosis of congenital fibrosis of extraocular muscles (CFEOM). Candidate sequencing was performed in all family members.Results Both affected siblings (aged 7 and 12 years) were unable to elevate the right eye. Their father had bilateral ptosis, left esotropia and bilateral limitation of elevation. Chin up head posture was present in the older sibling and the father. Bell’s phenomenon and vertical rotational vestibulo-ocular reflex were absent in the right eye for both children. Mild bilateral facial nerve palsy was present in the older sibling and the father. Both siblings had slight difficulty with tandem gait. MRI revealed hypoplastic oculomotor nerve. Left anterior insular focal cortical dysplasia was seen in the older sibling. Sequencing of TUBB3 revealed a novel heterozygous variant (c.1263G>C, p.E421D) segregating with the phenotype. This residue is in the C-terminal H12 α-helix of β-tubulin and is one of three putative kinesin binding sites.Conclusion We show that familial MED can arise from a TUBB3 variant and could be considered a limited form of CFEOM. Neurological features such as mild facial palsy and cortical malformations can be present in patients with MED. Thus, in individuals with congenital MED, consideration may be made for TUBB3 mutation screening
Gender Differences in Russian Colour Naming
In the present study we explored Russian colour naming in a web-based psycholinguistic experiment
(http://www.colournaming.com). Colour singletons representing the Munsell Color Solid (N=600 in total) were presented on a computer monitor and named using an unconstrained colour-naming method. Respondents were
Russian speakers (N=713). For gender-split equal-size samples (NF=333, NM=333) we estimated and compared (i)
location of centroids of 12 Russian basic colour terms (BCTs); (ii) the number of words in colour descriptors; (iii) occurrences of BCTs most frequent non-BCTs. We found a close correspondence between females’ and males’
BCT centroids. Among individual BCTs, the highest inter-gender agreement was for seryj ‘grey’ and goluboj
‘light blue’, while the lowest was for sinij ‘dark blue’ and krasnyj ‘red’. Females revealed a significantly richer repertory of distinct colour descriptors, with great variety of monolexemic non-BCTs and “fancy” colour names; in comparison, males offered relatively more BCTs or their compounds. Along with these measures, we gauged
denotata of most frequent CTs, reflected by linguistic segmentation of colour space, by employing a synthetic
observer trained by gender-specific responses. This psycholinguistic representation revealed females’ more
refined linguistic segmentation, compared to males, with higher linguistic density predominantly along the redgreen axis of colour space
Crop Updates 2001 - Oilseeds
ABSTRACT
This session covers twenty five papers from different authors:
FORWARD, Mervyn McDougall, CHAIRMAN, PULSES AND OILSEEDS PARTNERSHIP GROUP
PLENARY
1. Implications of the ‘green-bridge’ for viral and fungal disease carry-over between seasons, Debbie Thackray, Agriculture Western Australia and Centre for Legumes in Mediterranean Agriculture
2. Insect pest development in WA via the ‘green-bridge’, Kevin Walden, Agriculture Western Australia
VARIETIES
3. Performance of new canola varieties in AGWEST variety trials, G. Walton, Crop Improvement Institute, Agriculture Western Australia
4. New herbicide tolerant varieties in WA, Kevin Morthorpe, Stephen Addenbrooke, Pioneer Hi-Bred Australia P/L
5. IT v’s TT – Head to head, Paul Carmody, Centre for Cropping Systems, Agriculture Western Australia
ESTABLISHMENT
6. Effect of stubble, seeding technique and seed size on crop establishment and yield of canola, Rafiul Alam, Glen Riethmuller and Greg Hamilton, Agriculture Western Australia
7. Canola establishment survey 2000, Rafiul Alam, Paul Carmody, Greg Hamilton and Adrian Cox, Agriculture Western Australia
8. Tramline farming for more canola, Paul Blackwell, Agriculture Western Australia
NUTRITION
9. Comparing the phosphorus requirement of canola and wheat in WA, M.D.A. Bolland and M.J. Baker, Agriculture Western Australia
10. Will a rainy summer affect nitrogen requirement: Tailoring your fertiliser decisions using the new nitrogen calculator, A.J. Diggle, Agriculture Western Australia
11. Canola – More response to lime, Chris Gazeyand Paul Carmody, Centre for Cropping Systems, Agriculture Western Australia
AGRONOMY
12. Hormone manipulation of canola development, Paul Carmody and Graham Walton, Agriculture Western Australia
13. Yield penalties with delayed sewing of canola, Imma Farre, CSIRO Plant Industry, Michael J. Robertson, CSIRO Sustainable Ecosystems, Graham H. Walton, Agriculture Western Australia, Senthold Asseng, CSIRO Plant Industry
14. Dry matter and oil accumulation in developing seeds of canola varieties at different sowing dates, Ping Si1, David Turner1 and David Harris2 , 1Plant Sciences, Faculty of Agriculture, The University of Western Australia, 2Chemistry Centre of Western Australia
13. Simulating oil concentrations in canola – virtually just the beginning, David Turner1 and Imma Farré2, 1Plant Sciences, Faculty of Agriculture, The University of Western Australia, 2CSIRO Plant Industry, Centre for Mediterranean Agricultural Research
PESTS AND DISEASES
14. Further evidence that canola crops are resilient to damage by aphids, Françoise Berlandier and Christiaan Valentine, Entomology, Agriculture Western Australia
15. Management of Diamondback moth (DBM) in canola, David Cook, Peter Mangano, David Cousins, Françoise Berlandier, and Darryl Hardie, Crop Improvement Institute,Agriculture Western Australia
16. Effect of time of sowing in conjunction with fungicides on blackleg and yield of canola, Ravjit Khangura and Martin Barbetti, Agriculture Western Australia
17. Further developments in forecasting aphid and virus risk in canola, Debbie Thackray, Jenny Hawkes and Roger Jones, Agriculture Western Australia and Centre for Legumes in Mediterranean Agriculture
18. Efficiency of selected insecticides for the use on Diamondback Moth in canola, Kevin Walden, Agriculture Western Australia
19. Impact® applied ‘in furrow’ controls blackleg in canola, Cameron Weeks and Erin Hasson, Mingenew-Irwin Group Inc.
20. Effect of time of sowing and Impact® on canola yield, Esperance, Dave Eksteen, Agriculture Western Australia
21. Australian Plague Locust Campaign 2000, Kevin Walden, Agriculture Western Australia
WEED CONTROL
22. New herbicide options for canola, John Moore and Paul Matson, Agriculture Western Australia
HARVESTING
23. Effects of time of swathing and desiccant application on the seed yield and oil content of canola, Carla Thomas and Lionel Martin, Muresk Institute of Agriculture, Curtin University of Technology
DECISION SUPPORT AND ADOPTION
24. Using canola monitoring groups to understand factors affecting canola production in Esperance, Dave Eksteen, Agriculture Western Australia
25. Nitrogen and canola, Dave Eksteen, Agriculture Western Australi
Management of nystagmus in children : a review of the literature and current practice in UK specialist services
Nystagmus is an eye movement disorder characterised by abnormal, involuntary rhythmic oscillations of one or both eyes, initiated by a slow phase. It is not uncommon in the UK and regularly seen in paediatric ophthalmology and adult general/strabismus clinics. In some cases, it occurs in isolation, and in others, it occurs as part of a multisystem disorder, severe visual impairment or neurological disorder. Similarly, in some cases, visual acuity can be normal and in others can be severely degraded. Furthermore, the impact on vision goes well beyond static acuity alone, is rarely measured and may vary on a minute-to-minute, day-to-day or month-to-month basis. For these reasons, management of children with nystagmus in the UK is varied, and patients report hugely different experiences and investigations. In this review, we hope to shine a light on the current management of children with nystagmus across five specialist centres in the UK in order to present, for the first time, a consensus on investigation and clinical management
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization
Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a custom-targeted next generation sequencing (NGS) gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. We report 16 novel SLC38A8 mutations. The sixth transmembrane domain is most frequently disrupted by missense SLC38A8 mutations. Ninety percent of our cases were initially misdiagnosed as PAX6-related phenotype or ocular albinism prior to NGS. We characterized the retinal development in vivo in patients with SLC38A8 mutations using high-resolution optical coherence tomography. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity. Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal development at an earlier stage resulting in a more under-developed retina and severe phenotype
The Private Equity Premium Puzzle Revisited: New Evidence on the Role of Heterogeneous Risk Attitudes
Learning together for and with the Martuwarra Fitzroy River
Co-production across scientific and Indigenous knowledge systems has become a cornerstone of research to enhance knowledge, practice, ethics, and foster sustainability transformations. However, the profound differences in world views and the complex and contested histories of nation-state colonisation on Indigenous territories, highlight both opportunities and risks for Indigenous people when engaging with knowledge co-production. This paper investigates the conditions under which knowledge co-production can lead to improved Indigenous adaptive environmental planning and management among remote land-attached Indigenous peoples through a case study with ten Traditional Owner groups in the Martuwarra (Fitzroy River) Catchment in Western Australia’s Kimberley region. The research team built a 3D map of the river and used it, together with an interactive table-top projector, to bring together both scientific and Indigenous spatial knowledge. Participatory influence mapping, aligned with Traditional Owner priorities to achieve cultural governance and management planning goals set out in the Fitzroy River Declaration, investigated power relations. An analytical framework, examining underlying mechanisms of social learning, knowledge promotion and enhancing influence, based on different theories of change, was applied to unpack the immediate outcomes from these activities. The analysis identified that knowledge co-production activities improved the accessibility of the knowledge, the experiences of the knowledge users, strengthened collective identity and partnerships, and strengthened Indigenous-led institutions. The focus on cultural governance and management planning goals in the Fitzroy River Declaration enabled the activities to directly affect key drivers of Indigenous adaptive environmental planning and management—the Indigenous-led institutions. The nation-state arrangements also gave some support to local learning and decision-making through a key Indigenous institution, Martuwarra Fitzroy River Council. Knowledge co-production with remote land-attached Indigenous peoples can improve adaptive environmental planning and management where it fosters learning together, is grounded in the Indigenous-led institutions and addresses their priorities
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