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Articles 26881 - 26910 of 26958
Full-Text Articles in Entire DC Network
Antecedents Of Emergency Services’ Street Level Bureaucrats’ (Slbs) Delivery Of Public Value: An Exploratory Study, Yvonne Brunetto, Ben Farr-Wharton, Aglae Hernandez Grande, Fleur Sharafizad, Matthew Richman
Antecedents Of Emergency Services’ Street Level Bureaucrats’ (Slbs) Delivery Of Public Value: An Exploratory Study, Yvonne Brunetto, Ben Farr-Wharton, Aglae Hernandez Grande, Fleur Sharafizad, Matthew Richman
Research outputs 2022 to 2026
Street Level Organisations (SLOs) determine the Psychosocial Safety Climate (PSC) in their workplaces and we examine pathways from SLBs’ PSC and Public Service Motivation (PSM) to discretionary power, work stress, wellbeing and the subsequent delivery of public value. The structural equation modelling results from 195 Australian police, fire, ambulance, and emergency services workers indicate that PSC had a more significant role in explaining SLBs’ delivery of public value compared with PSM. The implication is that SLOs’ management must ensure psychosocially safe and supportive workplaces conducive to building SLBs’ wellbeing, because that is the pathway for delivering public value.
Care-Full Climate Justice Organising, Kylie Wrigley
Care-Full Climate Justice Organising, Kylie Wrigley
Research outputs 2022 to 2026
Feminist, Indigenous, and disability theories and activisms have long called for more attention to care–both as an ethic and practice–in response to environmental and social issues. Although care work is vital for collective survival, it is relatively devalued and trivialised in society and under-examined in climate justice research. Emerging critical research suggests that care work is central to how climate justice communities understand and respond to climate change and interlocking structural violences. Yet, there is limited climate justice scholarship that attends to the intersections of care and climate movements. At this juncture, this article draws on empirical reflections from a …
Delirium In The Acute Care Setting From The Families Perspective: A Scoping Review, Amber Mclean, Beverley Ewens, Amanda Towell-Barnard
Delirium In The Acute Care Setting From The Families Perspective: A Scoping Review, Amber Mclean, Beverley Ewens, Amanda Towell-Barnard
Research outputs 2022 to 2026
Aim: To explore the existing literature on delirium within the acute care setting from the family members' perspective and summarise key findings. Design: A scoping review guided by Arksey and O'Malley's methodological framework and refined by the Joanna Briggs Institute. Review Methods: The Population, Concept, and Context framework recommended by the Joanna Briggs Institute's scoping review protocol identified the main concepts in the primary review question. The inclusion criteria focused on primary research studies from any chronological date that explored the family members' experience of delirium within the acute care setting. Following screening by two independent reviewers, data extraction was …
Managing Human Sources: Identification And Management Of Motivation, Tiffany Mckenzie, Pamela Henry, Nikki Rajakaruna
Managing Human Sources: Identification And Management Of Motivation, Tiffany Mckenzie, Pamela Henry, Nikki Rajakaruna
Research outputs 2022 to 2026
Human Source management is a critical function of intelligence and evidence collection by law enforcement and intelligence agencies across the world. Understanding the motivations of Human Sources is key to gaining high intelligence yields. Yet research which explores Human Source motivation, from a handler’s perspective, is limited. Even more limited is research which considers how motivation is identified and managed by law enforcement agencies across the course of a Human Source’s engagement with an agency. This research explores the experiences and perceptions of Human Source handlers from two Australian law enforcement agencies via semi-structured interviews (N = 17). Handlers highlighted …
Persistence Of Contested Value Cocreation Practices, Kim Feddema, Kaisa Koskela-Huotari, Paul Harrigan
Persistence Of Contested Value Cocreation Practices, Kim Feddema, Kaisa Koskela-Huotari, Paul Harrigan
Research outputs 2022 to 2026
The climate crisis and other global challenges make it clear that not only are new value cocreation practices (VCPs) needed, but some current VCPs must be discontinued. Prior service literature assumes that VCPs can be disrupted by reforming the institutions that govern them. However, empirical observations show that VCPs may persist even when targeted by institutional work, and recent organizational research points to contested practices that continue to be enacted even when challenged or criticized. To understand this phenomenon in value cocreation, we conducted an embedded case study of exotic pet-keeping—a set of VCPs that continue despite intervention efforts. Our …
I Am Still Concerned About Them: Grandmother Kinship Caregivers And The Challenge Of Abuse By Children In Their Care, Hajara Bentum, Vicki Banham, Kwadwo Adusei-Asante
I Am Still Concerned About Them: Grandmother Kinship Caregivers And The Challenge Of Abuse By Children In Their Care, Hajara Bentum, Vicki Banham, Kwadwo Adusei-Asante
Research outputs 2022 to 2026
Research evidence has shown that adverse occurrences within the kinship caregiving environment, such as the grandparents' experiences of violence and abuse, may introduce new stressors or exacerbate existing aged-related challenges, leading to adverse impacts on grandparent kinship carers. Yet no research has explored the impact of abuse and violence experienced by grandparent kinship caregivers from children in their care. This study involved narrative interviews with 31 grandmother kinship caregivers in Ghana to explore the adverse effects of the abuse they have experienced from children in their care. The study findings revealed the following impacts on grandmothers: (1) high blood pressure, …
Blending Minds, Balancing Goals: Tmt Heterogeneity And Sustainable-Innovation In Family Firms, Mahdi Vesal, Muhammad Aftab Alam, Mohammad H. Rahmati
Blending Minds, Balancing Goals: Tmt Heterogeneity And Sustainable-Innovation In Family Firms, Mahdi Vesal, Muhammad Aftab Alam, Mohammad H. Rahmati
Research outputs 2022 to 2026
Family firms often prioritize profitability and growth, but balancing these with environmental sustainability is challenging. While TMT heterogeneity shapes various performance outcomes, its role in addressing the profitability–environmental sustainability dilemma in family firms remains unclear. Building on the upper echelons theory, we investigate how TMT heterogeneity drives the simultaneous pursuit of financial and environmental performance, which we refer to as hybrid financial–environmental performance, through sustainable-innovation practices. Additionally, we examine how family-firm governance mechanisms influence these relationships. Analyzing data from two matched samples of CEOs and senior production managers of Australian family firms, we find not only that TMT heterogeneity enhances …
A Critical Review Of The Theory Of Planned Behaviour In Tourism Research, Kourosh Esfandiar, Arghavan Hadinejad
A Critical Review Of The Theory Of Planned Behaviour In Tourism Research, Kourosh Esfandiar, Arghavan Hadinejad
Research outputs 2022 to 2026
The Theory of Planned Behaviour (TPB) has received considerable attention across various academic disciplines and remains one of the most widely applied–yet increasingly critiqued–theoretical frameworks in tourism research. Despite its widespread use, there is a notable lack of critical reflection on its adequacy in capturing the complexity of tourist behaviour and a limited exploration of alternative theoretical pathways. This paper addresses this gap by critically evaluating the appropriateness and limitations of the TPB in tourism research. Special attention is given to the Theory of Reasoned Goal Pursuit (TRGP), a recent extension of the TPB, alongside complementary frameworks from parent disciplines …
Advancing Sustainable Tourism Behavioural Research: A Metacognitive Perspective, Arghavan Hadinejad, Kourosh Esfandiar, Liubov Skavronskaya
Advancing Sustainable Tourism Behavioural Research: A Metacognitive Perspective, Arghavan Hadinejad, Kourosh Esfandiar, Liubov Skavronskaya
Research outputs 2022 to 2026
The current scholarly inquiry on sustainable tourism behaviour research predominantly relies on cognitive behavioural approaches, particularly exemplified by the widespread application of the theory of planned behaviour among other theories. Given recent advancements in psychology underscoring the necessity to expand beyond conventional cognitive frameworks, the current research aims to integrate metacognitive perspectives in sustainable tourism behaviour scholarship. This perspective explores the reflective awareness and control individuals exert over their cognitive processes which can uncover nuanced factors shaping sustainable tourism behaviour that may be overlooked in traditional cognitive models. Using a critical review approach, this research proposes the adoption of alternative …
Culture, Community, And Development: Unpacking The ‘Socio-Cultural Milieu Dynamics’ Of Solomon Islands And Their Influence On Australia's Aid Localisation, Mark Opoku Amankwa, Gladys Nangira Murruka, Kwadwo Adusei-Asante, Vicki Frances Banham, Clement Amponsah, Emmanuel Enyinful
Culture, Community, And Development: Unpacking The ‘Socio-Cultural Milieu Dynamics’ Of Solomon Islands And Their Influence On Australia's Aid Localisation, Mark Opoku Amankwa, Gladys Nangira Murruka, Kwadwo Adusei-Asante, Vicki Frances Banham, Clement Amponsah, Emmanuel Enyinful
Research outputs 2022 to 2026
Using public ethnography anchored in the post-development theory and interpretivist epistemological paradigm, this study examines what we term the ‘socio-cultural milieus dynamics’ (SCMD) of the Solomon Islands (SI) and how these shape meaning, discourse, and practice in ways that influence Australia's aid localisation efforts and aid outcomes. The findings indicate that local communities are deeply entrenched in complex SCMD with heterogeneous networks of decision-makers within the ecosystem. These SCMD, we argue, are evident in the structural and contested roles associated with the gendered composition of local committees, the power asymmetries between dominant local elites and subalternised groups, and the relationalities …
Metaverse And Artificial Intelligence As Web 4.0: The Next Generation Of The Internet, Anton Klarin, Elena Gorenskaia, Qijie Xiao, Pi-Shen Seet
Metaverse And Artificial Intelligence As Web 4.0: The Next Generation Of The Internet, Anton Klarin, Elena Gorenskaia, Qijie Xiao, Pi-Shen Seet
Research outputs 2022 to 2026
This study utilizes systems thinking to explore and entwine an evolving metaverse scholarship to a relatively underexplored phenomenon of Web 4.0. We adopt a soft systems thinking framework to guide the interpretation of complex and evolving metaverse scholarship, using bibliometric mapping of 5587 publications sourced from Scopus. Using systems thinking, we synthesize these clusters into the following four thematic areas: (i) business and society implications, (ii) optimization, (iii) integration with other technologies and (iv) metaverse education. Drawing on the largest-to-date review of the metaverse as well as a systematic review of Web 4.0 literature, we propose a novel conceptualization of …
The Strategic Competence Of Secondary Mathematics Teachers Solving Algebraic Word Problems, Vesife Hatisaru, Steven Richardson, Helen Chick, John Sevier
The Strategic Competence Of Secondary Mathematics Teachers Solving Algebraic Word Problems, Vesife Hatisaru, Steven Richardson, Helen Chick, John Sevier
Research outputs 2022 to 2026
We examined the strategic competence of 22 secondary mathematics teachers by considering their solutions to an algebraic word problem involving simultaneous equations. The analyses have shown that although the majority could solve the problem, the strategic competence of the participants varied, with some teachers having greater fluency with an algebraic solution, and the others less likely to address simultaneity. Overall, many of the teachers had relatively limited capacity to identify additional solution approaches. The study highlights the usefulness of a strategic competence scheme with key indicators that may reveal areas for further teacher development, with the specific findings suggesting the …
Covert Transmission For Active Ris-Aided Full-Duplex Uav Integrated Sensing, Communication, And Computation Systems, Qi Zhang, Wei Gao, Chuan Liu, Yu Yao, Shihao Yan, Feng Shu, Shi Jin
Covert Transmission For Active Ris-Aided Full-Duplex Uav Integrated Sensing, Communication, And Computation Systems, Qi Zhang, Wei Gao, Chuan Liu, Yu Yao, Shihao Yan, Feng Shu, Shi Jin
Research outputs 2022 to 2026
Next-generation wireless network should accomplish integrated sensing, communication, and computation (ISCC) capabilities. This paper proposes a novel covert transmission scheme based on active reconfigurable intelligent surface (RIS)-enabled full-duplex (FD) unmanned aerial vehicle (UAV)-ISCC framework, where the multi-functional UAV realizes simultaneous target sensing and uplink (UL) covert communication, as well as performing edge computing (EC) for users. To maximize the minimum covert transmission rate (CTR) among all UL users, UAV transmit beamforming and trajectory, RIS weights, power allocation and signal processing in a FD UL transmission system are jointly devised. To tackle the intractable non-convex problem, we leverage second order cone …
Integrating Environmental Awareness In Underwater Acoustic Networks: A Comprehensive Review, Sadaf Vahabli, Iftekhar Ahmad, Quoc Viet Phung, Daryoush Habibi, Walid K. Hasan, Ruba Zaheer
Integrating Environmental Awareness In Underwater Acoustic Networks: A Comprehensive Review, Sadaf Vahabli, Iftekhar Ahmad, Quoc Viet Phung, Daryoush Habibi, Walid K. Hasan, Ruba Zaheer
Research outputs 2022 to 2026
Underwater Acoustic Networks (UANs) are critical for enabling long-range underwater communication, supporting a wide range of applications, such as environmental monitoring, resource exploration, disaster prevention and marine security. Unfortunately, UANs operate within a limited acoustic spectrum, where these spectrums often overlap with those used by marine animals for communication, navigation and foraging. Additionally, anthropogenic noise from industrial activities contributes to acoustic pollution, intensifying this problem. This frequency overlap poses significant risks to marine life. Therefore, this review highlights the urgent need to develop environmentally aware UANs that minimize harmful acoustic interference with marine mammals, fish and invertebrates. Further, it focuses …
Limited Site-Specific Blue Carbon Recovery Following Tropical Seagrass Restoration In Thailand, Ratchanee Kaewsrikhaw, Milica Stankovic, Pere Masqué, Mathew A. Vanderklift, Tipamat Upanoi, Anchana Prathep
Limited Site-Specific Blue Carbon Recovery Following Tropical Seagrass Restoration In Thailand, Ratchanee Kaewsrikhaw, Milica Stankovic, Pere Masqué, Mathew A. Vanderklift, Tipamat Upanoi, Anchana Prathep
Research outputs 2022 to 2026
Seagrass restoration is gaining popularity as a nature-based method for climate change mitigation, owing to its effectiveness in capturing and storing organic carbon (Corg). However, demonstrating blue carbon additionality — defined as a measurable increase in carbon stocks directly attributable to restoration activities — remains challenging. This research assessed sedimentary Corg stocks and carbon accumulation rates in restored tropical seagrass meadows throughout Thailand. Despite successful restoration at multiple sites, sediment analysis showed little Corg accumulation, low Corg and organic matter content, with non-significant differences among restored seagrass areas, patchy natural meadows, and nearby bare sand areas. Limited sediment accumulation was …
Bitcoin Halving: How Effective Is It In Driving Cryptocurrency Market Dynamics?, Nyoman Sri Subawa, Caren Angellina Mimaki, I. Made Oka Mahendra, Made Srinitha Millinia Utami
Bitcoin Halving: How Effective Is It In Driving Cryptocurrency Market Dynamics?, Nyoman Sri Subawa, Caren Angellina Mimaki, I. Made Oka Mahendra, Made Srinitha Millinia Utami
Research outputs 2022 to 2026
Bitcoin halving is a quadrennial event that halves mining rewards and is believed to influence cryptocurrency prices and cryptocurrency market dynamics. This study examines the effect of Bitcoin halving on Cryptocurrency Prices, with Government Regulations, Market Sentiment, and Cryptocurrency Performance as mediating variables. A quantitative research approach was employed, gathering original data via survey instruments from 294 participants within the cryptocurrency community in Bali, which were analyzed using PLS-SEM. The findings indicate that Bitcoin halving exerts a favorable and statistically meaningful influence on Government Regulations, Market Sentiment, Cryptocurrency Performance, and Cryptocurrency Prices. Market Sentiment fully mediates the influence of Government …
Gut Microbial Composition And Short-Chain Fatty Acid Metabolism In Cognitively Unimpaired Adults Stratified By Amyloid-Β Status, D. M.Sithara Dissanayaka, Thilini N. Jayasinghe, Hamid R. Sohrabi, Stephanie R. Rainey-Smith, Kevin Taddei, Colin L. Masters, Ralph N. Martins, W. M.A.D.Binosha Fernando
Gut Microbial Composition And Short-Chain Fatty Acid Metabolism In Cognitively Unimpaired Adults Stratified By Amyloid-Β Status, D. M.Sithara Dissanayaka, Thilini N. Jayasinghe, Hamid R. Sohrabi, Stephanie R. Rainey-Smith, Kevin Taddei, Colin L. Masters, Ralph N. Martins, W. M.A.D.Binosha Fernando
Research outputs 2022 to 2026
Short-chain fatty acids (SCFAs) produced by gut microbial fermentation influence host metabolism and neuroinflammatory processes implicated in Alzheimer’s disease (AD). However, the relationship between fecal SCFAs, microbial taxa, and cerebral amyloid-β (Aβ) burden in cognitively unimpaired individuals remains unclear. Fecal SCFAs were quantified using GC-MS, and microbial species were profiled by shotgun metagenomics in 87 participants. Associations between SCFAs, demographics, APOE ε4 status, and Aβ burden were tested using nonparametric statistics and multivariable regression. Microbial–SCFA links were evaluated using Spearman correlations and multivariate ordinations, with mediation analysis exploring potential indirect pathways. Acetate was the predominant SCFA and demonstrated the most …
Optimizing Ev Battery Charging Using Fuzzy Logic In The Presence Of Uncertainties And Unknown Parameters, Minhaz Uddin Ahmed, Md Ohirul Qays, Stefan Lachowicz, Parvez Mahmud
Optimizing Ev Battery Charging Using Fuzzy Logic In The Presence Of Uncertainties And Unknown Parameters, Minhaz Uddin Ahmed, Md Ohirul Qays, Stefan Lachowicz, Parvez Mahmud
Research outputs 2022 to 2026
The growing use of electric vehicles (EVs) creates challenges in designing charging systems that are smart, dependable, and efficient, especially when environmental conditions change. This research proposes a fuzzy-logic-based PID control strategy integrated into a photovoltaic (PV) powered EV charging system to address uncertainties such as fluctuating solar irradiance, grid instability, and dynamic load demands. A MATLAB-R2023a/Simulink-R2023a model was developed to simulate the charging process using real-time adaptive control. The fuzzy logic controller (FLC) automatically updates the PID gains by evaluating the error and how quickly the error is changing. This adaptive approach enables efficient voltage regulation and improved system …
Rapid Decentralized Prostate Cancer Risk Stratification By Portable Liquid Biopsy Analysis Within A Clinical Biosensor Validation Framework, Kevin M. Koo, Grant Phillips, Sriganesh Srihari, Áine Farrell, Binny Jaradi, Kira J. Fitzpatrick, John W. Yaxley, Hemamali Samaratunga, Paul N. Mainwaring, Ke-Lin Ru, Darren J. Korbie, Scott A. Tomlins, Matthew J. Roberts, Robert A. Gardiner, Matt Trau
Rapid Decentralized Prostate Cancer Risk Stratification By Portable Liquid Biopsy Analysis Within A Clinical Biosensor Validation Framework, Kevin M. Koo, Grant Phillips, Sriganesh Srihari, Áine Farrell, Binny Jaradi, Kira J. Fitzpatrick, John W. Yaxley, Hemamali Samaratunga, Paul N. Mainwaring, Ke-Lin Ru, Darren J. Korbie, Scott A. Tomlins, Matthew J. Roberts, Robert A. Gardiner, Matt Trau
Research outputs 2022 to 2026
Clinical liquid biopsy (e.g., blood or urine) specimens, as a minimally invasive source of crucial molecular information, continue to grow in importance for efficacious targeted cancer treatment. Yet, current molecular profiling technologies are still confined to centralized laboratory testing, which escalates testing costs, result turnaround time, and patient anxiety. Crucially, there is also a scarcity of purposeful clinical validation studies to rigorously evaluate emerging liquid biopsy technologies from research settings to facilitate clinical translation. Here, we report liquid biopsy biosensor advancements in achieving rapid, accurate, and decentralized molecular profiling of a clinically accredited prostate cancer (PCa) urinary circulating RNA biomarker …
User Experience In Virtual Self-Disclosure: Appraising Natural, Urban, And Artificial Vr Environments, Shane L. Rogers, Tasha Canes, Alexis Pallister
User Experience In Virtual Self-Disclosure: Appraising Natural, Urban, And Artificial Vr Environments, Shane L. Rogers, Tasha Canes, Alexis Pallister
Research outputs 2022 to 2026
Featured Application: This study informs the design of virtual environments for therapeutic and emotionally meaningful conversations delivered through VR platforms. The findings show that nature-themed environments, particularly virtual blue spaces, can enhance users’ comfort and calmness when disclosing personal experiences. These results can guide developers of VR counselling systems, digital mental-health tools, and conversational-agent platforms in selecting or tailoring virtual environments that promote psychological safety and ease of communication. Virtual reality (VR) offers new opportunities for delivering psychologically meaningful conversations in digitally mediated settings. This study examined how environmental designs influence user experience during emotionally relevant self-disclosure. Fifty university students …
It Makes You Nervous When You Start Talking About Racism: Shining Light On Teacher Educators’ Experiences Of Anti-Racist Pedagogy In Australian Teacher Education, Sasha Janes
Research outputs 2022 to 2026
Teacher educators have a significant responsibility in promoting anti-racist pedagogy and guiding preservice teachers to engage in critical self-examination regarding dominant narratives. However, many teacher education programmes fall short of adequately equipping aspiring teachers for diverse classrooms as they often perpetuate a predominantly white system and curricula. Informed by Critical Pedagogy and underpinned by a lens of Culturally Sustaining Pedagogies, this paper discusses the experiences of teacher educators facilitating anti-racist pedagogy within teacher education programmes at Australian universities. Semi-structured interviews were held with 23 experienced teacher educators employed at universities across Australia. Data reveal teacher educators’ efforts to promote anti-racist …
Assessment Of In-Frame Indel Variants In An Unsolved Cohort Of Inherited Retinal Diseases Using Machine Learning, David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C Brock, Yumei Li, Molly Marra, Mark E Pennesi, Paul Yang, Everett Lesley, Irma Lopez, Robert Koenekoop, Edward Ryan Collantes, Joanne Bolinao, Rui Chen
Assessment Of In-Frame Indel Variants In An Unsolved Cohort Of Inherited Retinal Diseases Using Machine Learning, David E Rauch, Meng Wang, Muhammad Jafar Hussain Hafiz, Daniel C Brock, Yumei Li, Molly Marra, Mark E Pennesi, Paul Yang, Everett Lesley, Irma Lopez, Robert Koenekoop, Edward Ryan Collantes, Joanne Bolinao, Rui Chen
Faculty, Staff and Students Publications
The standard for in silico pathogenicity prediction of in-frame insertions and deletions (indels) is less established compared to other types of variations. We aimed to systematically assess the performance of in silico machine learning (ML) tools on a patient cohort with inherited retinal diseases (IRDs). The performance of four ML tools (CADD, FATHMM-indel, VEST4, and MetaRNN-indel) was compared. Among them, MetaRNN-indel showed the best overall results. MetaRNN-indel was then applied to 1013 unsolved IRD patients, identifying two likely pathogenic causal variants in two unrelated IRD patients by confirming clinical phenotypes. Hence, our findings indicate that reliable prediction of the pathogenicity …
Molecular Heterogeneity Of Hpv-Associated Cancers And Strategies To Overcome Treatment Resistance, Sara Rasouli, Weiyi Gong, Raegan Wood, Danyal Daneshdoust, Anam Khan, Rani Mahyoob, Chongwen Cao, Zihao Yu, Nagireddy Putluri, Gennady Shvets, Haichang Li, Bo Zhao, Xuefeng Liu, Jenny Li
Molecular Heterogeneity Of Hpv-Associated Cancers And Strategies To Overcome Treatment Resistance, Sara Rasouli, Weiyi Gong, Raegan Wood, Danyal Daneshdoust, Anam Khan, Rani Mahyoob, Chongwen Cao, Zihao Yu, Nagireddy Putluri, Gennady Shvets, Haichang Li, Bo Zhao, Xuefeng Liu, Jenny Li
Faculty, Staff and Students Publications
Human papillomavirus (HPV) is a major driver of global cancer incidence, responsible for nearly all cervical cancers and a significant proportion of oropharyngeal, anal, and other anogenital cancers. Despite the availability of effective vaccines, HPV-associated cancers persist due to persistent infection, immune evasion, and the virus's ability to integrate into the host genome, contributing to molecular heterogeneity and therapeutic resistance. Here, we summarize molecular heterogeneity and the emerging combined therapeutic strategies. High-risk HPV types, notably HPV16 and HPV18, initiate carcinogenesis through persistent infection of epithelial basal cells and through the actions of the E6 and E7 oncoproteins, which disrupt the …
Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini
Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini
Faculty, Staff and Students Publications
Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing …
Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu
Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu
Faculty, Staff and Students Publications
Alzheimer's disease is characterized by complex molecular and cellular heterogeneity, which complicates efforts to identify consistent biomarkers and therapeutic targets. To better characterize the heterogeneity, we applied latent factor modeling to RNA sequencing data from approximately 2,500 human Alzheimer's disease brain samples, uncovering underlying patterns in gene expression. These transcriptional groups demonstrated unique gene expression profiles related to synaptic and neuronal pathways, vasculature development, and protein folding and antigen processing. Notably, this latent factor reflects variation in spatial sampling. Adjusting for the latent factor improved the identification of differentially expressed genes in disease samples. This finding suggests that spatial heterogeneity …
Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González
Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González
Faculty, Staff and Students Publications
Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by TK2 variants, leading to mitochondrial DNA depletion and/or multiple deletions. People with thymidine kinase 2 deficiency experience progressive myopathy, bulbar weakness and respiratory insufficiency, often losing the ability to walk, eat and breathe independently. Doxecitine and doxribtimine represents the first approved treatment for patients with thymidine kinase 2 deficiency with age of symptom onset ≤12 years by the US Food and Drug Administration and the European Medicines Agency; previously, disease management was limited to supportive care. We investigated the efficacy and safety of pyrimidine …
Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz
Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz
Faculty, Staff and Students Publications
Single nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving TBX4 have been associated with pulmonary arterial hypertension, ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs). Thus far, all large CNV deletions encompassing entire TBX4 have been found to have arisen de novo. Here, we present a three-generation family with three neonate siblings who died within 35-66 days due to histopathologically diagnosed LLDD. Whole-genome sequencing identified an ~108-kb CNV deletion encompassing TBX4 in all three infants. The deletion was also found in their mother with a history of pneumonia and persistent thick upper airway secretions and in the maternal grandfather …
Age-Related Variations Of The Hemodynamic Response Function Spatially Resolved Across Human Cerebral Cortex, Nooshin J Fesharaki, Amanda Taylor, David Ress
Age-Related Variations Of The Hemodynamic Response Function Spatially Resolved Across Human Cerebral Cortex, Nooshin J Fesharaki, Amanda Taylor, David Ress
Faculty, Staff and Students Publications
Normal aging leads to regional vascular and neural alterations. Age-related impairments in neurovascular coupling (NVC) affect the blood-oxygen-level-dependent (BOLD) hemodynamic response function (HRF) measured with functional magnetic resonance imaging, causing changes in both amplitude and temporal dynamics. Previously, global, systematic age-related changes in HRF characteristics were demonstrated, consistent with known microvascular aging effects. In this follow-up study, a standard space was used to compare spatially resolved cortical HRF dynamics between sex-balanced groups of young and older adults. The results showed substantial age-related differences in both HRF amplitude and timing across distinct cortical regions. Nearly twice as much cortical area exhibited …
Dynamic Progression Of Ectopic Lymphoid Structure Formation In Lacrimal Glands Of A Sjögren’S Disease Murine Model, Sara Abdelhamid, Alison V Ramirez, Emre Aksan, Elizaveta A Demianova, Cintia S De Paiva, Maria C Edman, J Andrew Mackay, Sarah F Hamm-Alvarez
Dynamic Progression Of Ectopic Lymphoid Structure Formation In Lacrimal Glands Of A Sjögren’S Disease Murine Model, Sara Abdelhamid, Alison V Ramirez, Emre Aksan, Elizaveta A Demianova, Cintia S De Paiva, Maria C Edman, J Andrew Mackay, Sarah F Hamm-Alvarez
Faculty, Staff and Students Publications
Background: Sjögren's Disease (SjD) is a chronic autoimmune condition characterized by lymphocytic infiltration of lacrimal glands (LG) and salivary glands (SG). In SG, these immune structures have properties of ectopic lymphoid structures (ELS) and appear to play a critical role in disease pathology. While the presence of ELS in patients' SG biopsies is linked to disease severity, their presence and composition in LG has not been well characterized.
Methods: The properties and time course of apparent ELS development in LG from the male non-obese diabetes free (NOR) sub-strain of the Non-Obese Diabetic (NOD) mice was investigated at stages encompassing early …
Disrupted Intrathalamic And Thalamocortical Structural Covariance Networks In Posttraumatic Stress Disorder, Nick Steele, Ahmed Hussain, Delin Sun, C Lexi Baird, Courtney Russell, Neda Jahanshad, Lauren E Salminen, Miranda Olff, Jessie L Frijling, Dick J Veltman, Saskia B J Koch, Laura Nawijn, Mirjam Van Zuiden, Li Wang, Ye Zhu, Gen Li, Dan J Stein, Jonathan Ipser, Sheri Koopowitz, Yuval Neria, Xi Zhu, Orren Ravid, Sigal Zilcha-Mano, Amit Lazarov, Benjamin Suarez-Jimenez, Ashley A Huggins, Jennifer Stevens, Kerry Ressler, Tanja Jovanovic, Sanne J H Van Rooij, Negar Fani, Emily L Dennis, David F Tate, David X Cifu, William C Walker, Elisabeth A Wilde, Ivan Rektor, Pavel Říha, Milissa L Kaufman, Lauren A M Lebois, Justin T Baker, Anthony King, Israel Liberzon, Mike Angstadt, Nicholas D Davenport, Seth G Disner, Scott R Sponheim, Thomas Straube, David Hofmann, Guang Ming Lu, Rongfeng Qi, Amit Etkin, Adi Maron-Katz, Xin Wang, Austin Kunch, Hong Xie, Yann Quidé, Wissam El-Hage, Shmuel Lissek, Hannah Berg, Steven E Bruce, Josh Cisler, Marisa Ross, Ryan Herringa, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine Larson, Terri A Deroon-Cassini, Carissa W Tomas, Jacklynn M Fitzgerald, Brandee Feola, Jennifer U Blackford, Bunmi O Olatunji, Geoffrey May, Steven M Nelson, Evan M Gordon, Chadi G Abdallah, Ruth Lanius, Maria Densmore, Jean Théberge, Richard W J Neufeld, Paul M Thompson, Rajendra A Morey
Disrupted Intrathalamic And Thalamocortical Structural Covariance Networks In Posttraumatic Stress Disorder, Nick Steele, Ahmed Hussain, Delin Sun, C Lexi Baird, Courtney Russell, Neda Jahanshad, Lauren E Salminen, Miranda Olff, Jessie L Frijling, Dick J Veltman, Saskia B J Koch, Laura Nawijn, Mirjam Van Zuiden, Li Wang, Ye Zhu, Gen Li, Dan J Stein, Jonathan Ipser, Sheri Koopowitz, Yuval Neria, Xi Zhu, Orren Ravid, Sigal Zilcha-Mano, Amit Lazarov, Benjamin Suarez-Jimenez, Ashley A Huggins, Jennifer Stevens, Kerry Ressler, Tanja Jovanovic, Sanne J H Van Rooij, Negar Fani, Emily L Dennis, David F Tate, David X Cifu, William C Walker, Elisabeth A Wilde, Ivan Rektor, Pavel Říha, Milissa L Kaufman, Lauren A M Lebois, Justin T Baker, Anthony King, Israel Liberzon, Mike Angstadt, Nicholas D Davenport, Seth G Disner, Scott R Sponheim, Thomas Straube, David Hofmann, Guang Ming Lu, Rongfeng Qi, Amit Etkin, Adi Maron-Katz, Xin Wang, Austin Kunch, Hong Xie, Yann Quidé, Wissam El-Hage, Shmuel Lissek, Hannah Berg, Steven E Bruce, Josh Cisler, Marisa Ross, Ryan Herringa, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine Larson, Terri A Deroon-Cassini, Carissa W Tomas, Jacklynn M Fitzgerald, Brandee Feola, Jennifer U Blackford, Bunmi O Olatunji, Geoffrey May, Steven M Nelson, Evan M Gordon, Chadi G Abdallah, Ruth Lanius, Maria Densmore, Jean Théberge, Richard W J Neufeld, Paul M Thompson, Rajendra A Morey
Faculty, Staff and Students Publications
The thalamus is a heterogeneous structure crucial for corticocortical communication, affective–perceptual integration, motor preparation, and memory-related functions. Posttraumatic stress disorder (PTSD) is characterized by various symptoms that likely relate to thalamic functions. Group-level and individual differential structural covariance (SC) analyses were conducted on intrathalamic, thalamocortical, and thalamosubcortical volumetric networks by segmenting structural MRI data from 2,784 subjects (PTSD n = 1,306; controls n = 1,478) into 25 thalamic nuclei per hemisphere. We found that PTSD was associated with stronger intrathalamic and thalamocortical network strength and stronger SC between the limbic thalamus and the somatomotor and auditory thalamus. PTSD severity was …