scholarly journals Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Cells ◽  
2020 ◽  
Vol 9 (4) ◽  
pp. 931 ◽  
Author(s):  
Gayle B. Collin ◽  
Navdeep Gogna ◽  
Bo Chang ◽  
Nattaya Damkham ◽  
Jai Pinkney ◽  
...  

Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal models, particularly the laboratory mouse, have been used to understand the pathogenic mechanisms that underlie PR cell loss and to explore therapies that may prevent, delay, or reverse RD. Here, we reviewed entries in the Mouse Genome Informatics and PubMed databases to compile a comprehensive list of monogenic mouse models in which PR cell loss is demonstrated. The progression of PR cell loss with postnatal age was documented in mutant alleles of genes grouped by biological function. As anticipated, a wide range in the onset and rate of cell loss was observed among the reported models. The analysis underscored relationships between RD genes and ciliary function, transcription-coupled DNA damage repair, and cellular chloride homeostasis. Comparing the mouse gene list to human RD genes identified in the RetNet database revealed that mouse models are available for 40% of the known human diseases, suggesting opportunities for future research. This work may provide insight into the molecular players and pathways through which PR degenerative disease occurs and may be useful for planning translational studies.

2010 ◽  
Vol 114 (1155) ◽  
pp. 321-332 ◽  
Author(s):  
J. Wang ◽  
A. Baker

Abstract This paper summarises recent research conducted at the Defence Science and Technology Organisation in the area of aircraft battle damage repair, covering aspects such as ballistic testing, ballistic damage prediction, non-destructive damage inspection, structure residual-strength assessment, repair materials and techniques, repair design approaches, repair implementation and demonstration. The research has been focused on military helicopter composite structures. This paper provides an overview of a wide range of research conducted and detailed information in selected areas. Considerations for future research directions are also briefly discussed.


1994 ◽  
Vol 72 (9-10) ◽  
pp. 439-446 ◽  
Author(s):  
Paul Wong ◽  
Diane E. Borst ◽  
Debora Farber ◽  
Janet S. Danciger ◽  
Martin Tenniswood ◽  
...  

Retinitis pigmentosa (RP) is a genetically and clinically heterogeneous group of human disorders that is characterized by diminished retinal function, visual cell loss, and blindness. Elevated levels of TRPM-2/clusterin mRNA, a marker for the apoptotic process, have been reported in retinas from patients with advanced stage RP. In the present study we examine TRPM-2/clusterin expression in two genetically distinct mouse models of RP, the rd (retinal degeneration) and rds (retinal degeneration slow) mice. We establish that in advanced postretinal degenerative stages of the rd mutant the retinal TRPM-2/clusterin mRNA levels are highly elevated, as is seen in the case of human RP. Examination of TRPM-2/clusterin mRNA levels in retina and whole eyes from the rd mouse and morphologically normal controls during the period of retinal degeneration (postnatal days 8–21) in the rd phenotype shows that TRPM-2/clusterin mRNA levels are elevated in the rd animal, and this increase begins just after postnatal day 10 and remains high for the remainder of the time course examined. Northern analysis of rds retina and whole eyes shows a delayed increase in TRPM-2/clusterin mRNA levels relative to the rd profile, coinciding with the known period of rds retinal degeneration (postnatal day 14 to 1 year). In each case, the onset of increased TRPM-2/clusterin mRNA levels coincides with the time of photoreceptor cell death.Key words: retinal degeneration, TRPM-2, clusterin, apoptosis, retinitis pigmentosa.


2019 ◽  
Vol 50 (4) ◽  
pp. 693-702 ◽  
Author(s):  
Christine Holyfield ◽  
Sydney Brooks ◽  
Allison Schluterman

Purpose Augmentative and alternative communication (AAC) is an intervention approach that can promote communication and language in children with multiple disabilities who are beginning communicators. While a wide range of AAC technologies are available, little is known about the comparative effects of specific technology options. Given that engagement can be low for beginning communicators with multiple disabilities, the current study provides initial information about the comparative effects of 2 AAC technology options—high-tech visual scene displays (VSDs) and low-tech isolated picture symbols—on engagement. Method Three elementary-age beginning communicators with multiple disabilities participated. The study used a single-subject, alternating treatment design with each technology serving as a condition. Participants interacted with their school speech-language pathologists using each of the 2 technologies across 5 sessions in a block randomized order. Results According to visual analysis and nonoverlap of all pairs calculations, all 3 participants demonstrated more engagement with the high-tech VSDs than the low-tech isolated picture symbols as measured by their seconds of gaze toward each technology option. Despite the difference in engagement observed, there was no clear difference across the 2 conditions in engagement toward the communication partner or use of the AAC. Conclusions Clinicians can consider measuring engagement when evaluating AAC technology options for children with multiple disabilities and should consider evaluating high-tech VSDs as 1 technology option for them. Future research must explore the extent to which differences in engagement to particular AAC technologies result in differences in communication and language learning over time as might be expected.


2015 ◽  
Vol 25 (1) ◽  
pp. 15-23 ◽  
Author(s):  
Ryan W. McCreery ◽  
Elizabeth A. Walker ◽  
Meredith Spratford

The effectiveness of amplification for infants and children can be mediated by how much the child uses the device. Existing research suggests that establishing hearing aid use can be challenging. A wide range of factors can influence hearing aid use in children, including the child's age, degree of hearing loss, and socioeconomic status. Audiological interventions, including using validated prescriptive approaches and verification, performing on-going training and orientation, and communicating with caregivers about hearing aid use can also increase hearing aid use by infants and children. Case examples are used to highlight the factors that influence hearing aid use. Potential management strategies and future research needs are also discussed.


2009 ◽  
Vol 23 (4) ◽  
pp. 191-198 ◽  
Author(s):  
Suzannah K. Helps ◽  
Samantha J. Broyd ◽  
Christopher J. James ◽  
Anke Karl ◽  
Edmund J. S. Sonuga-Barke

Background: The default mode interference hypothesis ( Sonuga-Barke & Castellanos, 2007 ) predicts (1) the attenuation of very low frequency oscillations (VLFO; e.g., .05 Hz) in brain activity within the default mode network during the transition from rest to task, and (2) that failures to attenuate in this way will lead to an increased likelihood of periodic attention lapses that are synchronized to the VLFO pattern. Here, we tested these predictions using DC-EEG recordings within and outside of a previously identified network of electrode locations hypothesized to reflect DMN activity (i.e., S3 network; Helps et al., 2008 ). Method: 24 young adults (mean age 22.3 years; 8 male), sampled to include a wide range of ADHD symptoms, took part in a study of rest to task transitions. Two conditions were compared: 5 min of rest (eyes open) and a 10-min simple 2-choice RT task with a relatively high sampling rate (ISI 1 s). DC-EEG was recorded during both conditions, and the low-frequency spectrum was decomposed and measures of the power within specific bands extracted. Results: Shift from rest to task led to an attenuation of VLFO activity within the S3 network which was inversely associated with ADHD symptoms. RT during task also showed a VLFO signature. During task there was a small but significant degree of synchronization between EEG and RT in the VLFO band. Attenuators showed a lower degree of synchrony than nonattenuators. Discussion: The results provide some initial EEG-based support for the default mode interference hypothesis and suggest that failure to attenuate VLFO in the S3 network is associated with higher synchrony between low-frequency brain activity and RT fluctuations during a simple RT task. Although significant, the effects were small and future research should employ tasks with a higher sampling rate to increase the possibility of extracting robust and stable signals.


2020 ◽  
Author(s):  
Sina Faizollahzadeh Ardabili ◽  
Amir Mosavi ◽  
Pedram Ghamisi ◽  
Filip Ferdinand ◽  
Annamaria R. Varkonyi-Koczy ◽  
...  

Several outbreak prediction models for COVID-19 are being used by officials around the world to make informed-decisions and enforce relevant control measures. Among the standard models for COVID-19 global pandemic prediction, simple epidemiological and statistical models have received more attention by authorities, and they are popular in the media. Due to a high level of uncertainty and lack of essential data, standard models have shown low accuracy for long-term prediction. Although the literature includes several attempts to address this issue, the essential generalization and robustness abilities of existing models needs to be improved. This paper presents a comparative analysis of machine learning and soft computing models to predict the COVID-19 outbreak as an alternative to SIR and SEIR models. Among a wide range of machine learning models investigated, two models showed promising results (i.e., multi-layered perceptron, MLP, and adaptive network-based fuzzy inference system, ANFIS). Based on the results reported here, and due to the highly complex nature of the COVID-19 outbreak and variation in its behavior from nation-to-nation, this study suggests machine learning as an effective tool to model the outbreak. This paper provides an initial benchmarking to demonstrate the potential of machine learning for future research. Paper further suggests that real novelty in outbreak prediction can be realized through integrating machine learning and SEIR models.


2019 ◽  
Vol 20 (3) ◽  
pp. 251-264 ◽  
Author(s):  
Yinlu Feng ◽  
Zifei Yin ◽  
Daniel Zhang ◽  
Arun Srivastava ◽  
Chen Ling

The success of gene and cell therapy in clinic during the past two decades as well as our expanding ability to manipulate these biomaterials are leading to new therapeutic options for a wide range of inherited and acquired diseases. Combining conventional therapies with this emerging field is a promising strategy to treat those previously-thought untreatable diseases. Traditional Chinese medicine (TCM) has evolved for thousands of years in China and still plays an important role in human health. As part of the active ingredients of TCM, proteins and peptides have attracted long-term enthusiasm of researchers. More recently, they have been utilized in gene and cell therapy, resulting in promising novel strategies to treat both cancer and non-cancer diseases. This manuscript presents a critical review on this field, accompanied with perspectives on the challenges and new directions for future research in this emerging frontier.


2021 ◽  
Vol 7 (3) ◽  
pp. e001108
Author(s):  
Omar Heyward ◽  
Stacey Emmonds ◽  
Gregory Roe ◽  
Sean Scantlebury ◽  
Keith Stokes ◽  
...  

Women’s rugby (rugby league, rugby union and rugby sevens) has recently grown in participation and professionalisation. There is under-representation of women-only cohorts within applied sport science and medicine research and within the women’s rugby evidence base. The aims of this article are: Part 1: to undertake a systematic-scoping review of the applied sport science and medicine of women’s rugby, and Part 2: to develop a consensus statement on future research priorities. This article will be designed in two parts: Part 1: a systematic-scoping review, and Part 2: a three-round Delphi consensus method. For Part 1, systematic searches of three electronic databases (PubMed (MEDLINE), Scopus, SPORTDiscus (EBSCOhost)) will be performed from the earliest record. These databases will be searched to identify any sport science and medicine themed studies within women’s rugby. The Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for Scoping Reviews will be adhered to. Part 2 involves a three-round Delphi consensus method to identify future research priorities. Identified experts in women’s rugby will be provided with overall findings from Part 1 to inform decision-making. Participants will then be asked to provide a list of research priority areas. Over the three rounds, priority areas achieving consensus (≥70% agreement) will be identified. This study has received institutional ethical approval. When complete, the manuscript will be submitted for publication in a peer-reviewed journal. The findings of this article will have relevance for a wide range of stakeholders in women’s rugby, including policymakers and governing bodies.


Author(s):  
Takeuchi Ayano

AbstractPublic participation has become increasingly necessary to connect a wide range of knowledge and various values to agenda setting, decision-making and policymaking. In this context, deliberative democratic concepts, especially “mini-publics,” are gaining attention. Generally, mini-publics are conducted with randomly selected lay citizens who provide sufficient information to deliberate on issues and form final recommendations. Evaluations are conducted by practitioner researchers and independent researchers, but the results are not standardized. In this study, a systematic review of existing research regarding practices and outcomes of mini-publics was conducted. To analyze 29 papers, the evaluation methodologies were divided into 4 categories of a matrix between the evaluator and evaluated data. The evaluated cases mainly focused on the following two points: (1) how to maintain deliberation quality, and (2) the feasibility of mini-publics. To create a new path to the political decision-making process through mini-publics, it must be demonstrated that mini-publics can contribute to the decision-making process and good-quality deliberations are of concern to policy-makers and experts. Mini-publics are feasible if they can contribute to the political decision-making process and practitioners can evaluate and understand the advantages of mini-publics for each case. For future research, it is important to combine practical case studies and academic research, because few studies have been evaluated by independent researchers.


2021 ◽  
pp. 016264342198997
Author(s):  
Sojung Jung ◽  
Ciara Ousley ◽  
David McNaughton ◽  
Pamela Wolfe

In this meta-analytic review, we investigated the effects of technology supports on the acquisition of shopping skills for students with intellectual and developmental disabilities (IDD) between the ages of 5 and 24. Nineteen single-case experimental research studies, presented in 15 research articles, met the current study’s inclusion criteria and the What Works Clearinghouse (WWC) standards. An analysis of potential moderators was conducted, and we calculated effect sizes using Tau-U to examine the impact of age, diagnosis, and type of technology on the reported outcomes for the 56 participants. The results from the included studies provide evidence that a wide range of technology interventions had a positive impact on shopping performance. These positive effects were seen for individuals across a wide range of ages and disability types, and for a wide variety of shopping skills. The strongest effect sizes were observed for technologies that provided visual supports rather than just auditory support. We provide an interpretation of the findings, implications of the results, and recommended areas for future research.


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