268 research outputs found

    Beyond Conventional Boundaries: Advancing Equity and Inclusivity in Educational Supervision

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    This special issue of the Journal of Educational Supervision, Cases in Critical Supervision within School Contexts, critically examines educational supervision models, highlighting their limitations in fostering equity and inclusivity. As greater attention and awareness of diverse identities and experiences becomes more common in schools there also needs to be acknowledgement of how supervision is experienced by educators and enacted by instructional supervisors. We argue for a paradigm shift towards more empathetic and diverse supervisory practices that consider the varied backgrounds and needs of students. Throughout this special issue, researchers propose innovative approaches that prioritize collaboration, understanding, and the recognition of the unique potential of every teacher, educator, and student. Empowered with a willingness and an awareness of how educational experiences can be experienced differently, researchers suggest supervisory models to transform educational environments into spaces where all students, especially those from marginalized groups, can thrive

    Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene

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    <p>Abstract</p> <p>Background</p> <p>Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (<it>RB1</it>) mutations. In germline retinoblastoma, mutations in the <it>RB1 </it>gene predispose individuals to increased cancer risks during development. These mutations segregate as autosomal dominant traits with high penetrance (90%).</p> <p>Methods</p> <p>We screened 30 family members from one family using high resolution melting assay and DNA direct sequencing for mutations in the <it>RB1 </it>gene. We evaluate the phenotype and penetrance of germline mutations of the <it>RB1 </it>gene in a large Taiwanese family.</p> <p>Results</p> <p>The molecular analysis and clinical details of this family showed phenotypic variability associated with the p.V654L mutation in exon 19 of the <it>RB1 </it>gene in 11 family members. The phenotype varied from asymptomatic to presence of a unilateral tumor. Only four individuals (2 males and 2 females) developed unilateral retinoblastoma, which resulted in calculated low penetrance of 36% (4/11). The four individuals with retinoblastoma were diagnosed before the age of three years. None of their relatives exhibited variable severity or bilateral retinoblastoma.</p> <p>Conclusions</p> <p>The diseased-eye ratio for this family was 0.36, which is lower than current estimates. This suggests that the <it>RB1 </it>p.V654L mutation is a typical mutation associated with low penetrance.</p

    Germline BAP1 Inactivation Is Preferentially Associated with Metastatic Ocular Melanoma and Cutaneous-Ocular Melanoma Families

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    Background: BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM) and germline inactivation in a few individuals from cancer-prone families. These findings suggest that constitutional BAP1 changes may predispose individuals to metastatic OM and that familial permeation of deleterious alleles could delineate a new cancer syndrome. Design: To characterize BAP1’s contribution to melanoma risk, we sequenced BAP1 in a set of 100 patients with OM, including 50 metastatic OM cases and 50 matched non-metastatic OM controls, and 200 individuals with cutaneous melanoma (CM) including 7 CM patients from CM-OM families and 193 CM patients from CM-non-OM kindreds. Results: Germline BAP1 mutations were detected in 4/50 patients with metastatic OM and 0/50 cases of non-metastatic OM (8 % vs. 0%, p = 0.059). Since 2/4 of the BAP1 carriers reported a family history of CM, we analyzed 200 additional hereditary CM patients and found mutations in 2/7 CM probands from CM-OM families and 1/193 probands from CM-non-OM kindreds (29 % vs. 0.52%, p =.003). Germline mutations co-segregated with both CM and OM phenotypes and were associated with the presence of unique nevoid melanomas and highly atypical nevoid melanoma-like melanocytic proliferations (NEMMPs). Interestingly, 7/14 germline variants identified to date reside in C-terminus suggesting that the BRCA1 binding domain i

    Retromer and Its Role in Regulating Signaling at Endosomes.

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    The retromer complex is a key element of the endosomal protein sorting machinery being involved in trafficking of proteins from endosomes to the Golgi and also endosomes to the cell surface. There is now accumulating evidence that retromer also has a prominent role in regulating the activity of many diverse signaling proteins that traffic through endosomes and this activity has profound implications for the functioning of many different cell and tissue types from neuronal cells to cells of the immune system to specialized polarized epithelial cells of the retina. In this review, the protein composition of the retromer complex will be described along with many of the accessory factors that facilitate retromer-mediated endosomal protein sorting to detail how retromer activity contributes to the regulation of several distinct signaling pathways

    Expression of cyclin D1, D3, E, and p27 in human renal cell carcinoma analysed by tissue microarray

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    Aberrations in the GI/S transition of the cell cycle have been observed in many malignancies and seem to be critical in the transformation process. Few studies have delineated the presence of GI/S regulatory defects and their clinical relevance in renal cell carcinoma (RCC). Therefore, we have examined the protein contents of cyclin D 1, D3, E, and p27 in 218 RCCs, using tissue microarray and immunohistochemistry. The results from a subset of tumours were confirmed by Western blotting and immunohistochemical staining of regular tissue sections. Interestingly, low protein contents of cyclin D I and p27 were associated with high nuclear grade, large tumour size, and poor prognosis for patients with conventional tumours. We further observed substantial differences in the pattern of GI/S regulatory defects between the different RCC subtypes. The majority of both conventional and papillary cases expressed p27; however, chromophobe tumours generally lacked p27 staining. In addition, conventional RCCs often expressed high cyclin DI protein levels, while papillary RCCs exhibited high cyclin E. In summary, we have shown that GI/S regulatory defects are present in RCC and are associated with clinico-pathological parameters. The pattern of cell cycle regulatory defects also differed between RCC subtypes. (C) 2003 Cancer Research UK

    Seeded Bayesian Networks: Constructing genetic networks from microarray data

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    <p>Abstract</p> <p>Background</p> <p>DNA microarrays and other genomics-inspired technologies provide large datasets that often include hidden patterns of correlation between genes reflecting the complex processes that underlie cellular metabolism and physiology. The challenge in analyzing large-scale expression data has been to extract biologically meaningful inferences regarding these processes – often represented as networks – in an environment where the datasets are often imperfect and biological noise can obscure the actual signal. Although many techniques have been developed in an attempt to address these issues, to date their ability to extract meaningful and predictive network relationships has been limited. Here we describe a method that draws on prior information about gene-gene interactions to infer biologically relevant pathways from microarray data. Our approach consists of using preliminary networks derived from the literature and/or protein-protein interaction data as seeds for a Bayesian network analysis of microarray results.</p> <p>Results</p> <p>Through a bootstrap analysis of gene expression data derived from a number of leukemia studies, we demonstrate that seeded Bayesian Networks have the ability to identify high-confidence gene-gene interactions which can then be validated by comparison to other sources of pathway data.</p> <p>Conclusion</p> <p>The use of network seeds greatly improves the ability of Bayesian Network analysis to learn gene interaction networks from gene expression data. We demonstrate that the use of seeds derived from the biomedical literature or high-throughput protein-protein interaction data, or the combination, provides improvement over a standard Bayesian Network analysis, allowing networks involving dynamic processes to be deduced from the static snapshots of biological systems that represent the most common source of microarray data. Software implementing these methods has been included in the widely used TM4 microarray analysis package.</p

    ISBS 2018 AUCKLAND CONFERENCE SPRINZ-HPSNZ-AUT MILLENNIUM APPLIED PROGRAMME

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    An interactive afternoon of sessions delivered by High Performance Sport New Zealand (HPSNZ) and AUT SPRINZ Biomechanists, Performance Analysts and other biomechanics relevant sport facing practitioners. The 11 sessions are at AUT Millennium (AUTM), which is a satellite site of AUT University and the Auckland training hub for many HPSNZ supported sports such as athletics, sailing, and swimming. These sports and others (cycling, rowing, snow sports etc.) will be represented in the line-up. The applied sessions involve practical demonstrations of aspects of analysis and/or tools used to deliver in the field to directly positively impact athletes performances on the world stage. Following these engaging sessions there will be tasting of New Zealand wine, allowing for further discussion and networking. Sir Graeme Avery will be acknowledged for his contribution to sport science. Mike Stanley is AUT Millennium Chief Executive & NZ Olympic Committee President will explain the partners in the facility. AUT Millennium is a charitable trust established to help New Zealanders live longer and healthier lives, and to enjoy and excel in sport through the provision of world-class facilities, services, research and education. Founded in 2002 as Millennium Institute of Sport and Health (MISH) by Sir Stephen Tindall and Sir Graeme Avery as a premium health and fitness facility for both athletes and the public alike. Partnered with AUT University in 2009, forming AUT Millennium, to expand research and education in the sporting sector. Professor Barry Wilson is an Adjunct Professor with SPRINZ at Auckland University of Technology and will be outlining the research and student opportunities. Martin Dowson is the General Manager Athlete Performance Support at High Performance Sport New Zealand and has overall responsibility for the programme. Simon Briscoe, AUT Millennium Applied Session Coordinator, is the head of the Performance and Technique Analysis discipline within HPSNZ. Simon is coordinating the applied sessions along with technical support from Dr Allan Carman, Research Fellow, AUT SPRINZ. Jodi Cossor and Matt Ingram will provide a demonstration of a multidisciplinary approach driven by biomechanical analysis for Paralympic swimmers. Justin Evans and Sarah-Kate Millar will provide a practical session assessing the athletes rowing stroke to assist the coach on technical changes. This session will demonstrate various rowing traits and how the biomechanist and coach can work together to optimise boat speed. Mike Schofield and Kim Hébert-Losier will provide a session looking at shotput and the evidence based approach to coaching. Dr Craig Harrison and Professor John Cronin will provide examples from the AUTM Athlete Development programme. Kim Simperingham and Jamie Douglas who work with high performance rugby athletes will outline sprinting mechanics in practice. Dr Bruce Hamilton, Fiona Mather, Justin Ralph and Rone Thompson will demonstrate the approach of HPSNZ and Cycling NZ performance health teams in the use of some specific tools for prevention of injury and optimisation of performance. Kelly Sheerin, Denny Wells and Associate Professor Thor Besier will provide examples of using IMU and motion capture methods for running and basketball biomechanics research, education and service. Dr Rodrigo Bini and Associate Professor Andrew Kilding will show how linking of biomechanics and physiology improves injury prevention and performance enhancement. Robert Tang, Andre de Jong and Farhan Tinwala discuss select projects developed by Goldmine, HPSNZ’s in-house engineering team, and how these innovations have enabled unprecedented levels of biomechanics feedback. Cameron Ross and Paul McAlpine demonstrate the technology being used at the Snow Sports NZ training centre in Cadrona to enhance load monitoring of athletes. This application allows greater insight into training performances and biomechanical loads than has been previously possible in the training environment. AUT Millennium tour guides are coordinated by Josh McGeown and include Enora Le Flao, Dustin Oranchuk, Erika Ikeda, Jono Neville, Aaron Uthoff, Andrew Pichardo, Farhan Tinwala, Shelley Diewald, Renata Bastos Gottgtroy, Jessica Yeoman, Casey Watkins, Eric Harbour, Anja Zoellner, Alyssa Joy Spence, Victor Lopez Jr, and Albert Chang

    High prevalence of dna from non-H. pylori helicobacters in the gastric mucosa of venezuelan pet dogs and its histological alterations

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    Non-H. pylori helicobacters (NHPH) have been demonstrated as gastric spiral-shaped bacteria in specimens obtained from dogs; however, their roles in the pathogenesis of upper gastrointestinal disease have not yet been clearly established. The purpose of this study was to evaluate the prevalence of NHPH DNA in the gastric mucosa of dogs and its association with histopathology. Helicobacter was detected through histopathological techniques, PCR, and FISH analysis from fundic biopsies of twenty dogs with or without signs of gastrointestinal disease. PCR and FISH were based on partial 16S rRNA gene sequences. Nineteen dogs showed mild to marked gastritis in the fundus, and only one dog had a healthy gastric mucosa. NHPH DNA was detected in 18 dogs with gastritis and one with normal gastric mucosa. However, there was no significant correlation between the presence of NHPH DNA and the degree of gastritis. These results show a high prevalence of NHPH DNA in the gastric mucosa of dogs from Venezuela. Further studies are necessary to determine a possible association between a specific NHPH species and the degree of gastritis

    Credible knowledge: A pilot evaluation of a modified GRADE method using parent-implemented interventions for children with autism

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    Abstract Background Decision-making in child and youth mental health (CYMH) care requires recommendations that are developed through an efficient and effective method and are based on credible knowledge. Credible knowledge is informed by two sources: scientific evidence, and practice-based evidence, that reflects the "real world" experience of service providers. Current approaches to developing these recommendations in relation to CYMH will typically include evidence from one source or the other but do not have an objective method to combine the two. To this end, a modified version of the Grading Recommendations Assessment, Development and Evaluation (GRADE) approach was pilot-tested, a novel method for the CYMH field. Methods GRADE has an explicit methodology that relies on input from scientific evidence as well as a panel of experts. The panel established the quality of evidence and derived detailed recommendations regarding the organization and delivery of mental health care for children and youth or their caregivers. In this study a modified GRADE method was used to provide precise recommendations based on a specific CYMH question (i.e. What is the current credible knowledge concerning the effects of parent-implemented, early intervention with their autistic children?). Results Overall, it appeared that early, parent-implemented interventions for autism result in positive effects that outweigh any undesirable effects. However, as opposed to overall recommendations, the heterogeneity of the evidence required that recommendations be specific to particular interventions, based on the questions of whether the benefits of a particular intervention outweighs its harms. Conclusions This pilot project provided evidence that a modified GRADE method may be an effective and practical approach to making recommendations in CYMH, based on credible knowledge. Key strengths of the process included separating the assessments of the quality of the evidence and the strength of recommendations, transparency in decision-making, and the objectivity of the methods. Most importantly, this method combined the evidence and clinical experience in a more timely, explicit and simple process as compared to previous approaches. The strengths, limitations and modifications of the approach as they pertain to CYMH, are discussed
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