Digital Commons Network^™

Bi-Allelic Variants In Cep295 Cause Seckel-Like Syndrome Presenting With Primary Microcephaly, Developmental Delay, Intellectual Disability, Short Stature, Craniofacial And Digital Abnormalities, Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama Alabdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S Alkuraya, Keren Machol, Jian Wang

Faculty, Staff and Students Publications

BACKGROUND: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases in humans. We sought to explore the roles of CEP295 in human pathology.

METHODS: Whole-exome sequencing was performed to screen for pathogenic variants in patients with severe microcephaly. Patient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying pathomechanisms, including centriole/centrosome development, cell cycle and proliferation changes, and ciliogenesis. Complementary experiments using CEP295 mRNA were performed to determine the pathogenicity of the identified missense variant. …

Self-Rectifying Magnetoelectric Metamaterials For Remote Neural Stimulation And Motor Function Restoration, Joshua C Chen, Gauri Bhave, Fatima Alrashdan, Abdeali Dhuliyawalla, Katie J Hogan, Antonios G Mikos, Jacob T Robinson

Faculty, Staff and Students Publications

Magnetoelectric materials convert magnetic fields into electric fields. These materials are often used in wireless electronic and biomedical applications. For example, magnetoelectrics could enable the remote stimulation of neural tissue, but the optimal resonance frequencies are typically too high to stimulate neural activity. Here we describe a self-rectifying magnetoelectric metamaterial for a precisely timed neural stimulation. This metamaterial relies on nonlinear charge transport across semiconductor layers that allow the material to generate a steady bias voltage in the presence of an alternating magnetic field. We generate arbitrary pulse sequences with time-averaged voltage biases in excess of 2 V. As a …

Interrogating The Value Of Return Of Results For Diverse Populations: Perspectives From Precision Medicine Researchers, Caitlin E Mcmahon, Nicole Foti, Melanie Jeske, William R Britton, Stephanie M Fullerton, Janet K Shim, Sandra Soo-Jin Lee

Center for Medical Ethics and Health Policy Staff Publications

Background: Over the last decade, the return of results (ROR) in precision medicine research (PMR) has become increasingly routine. Calls for individual rights to research results have extended the "duty to report" from clinically useful genetic information to traits and ancestry results. ROR has thus been reframed as inherently beneficial to research participants, without a needed focus on who benefits and how. This paper addresses this gap, particularly in the context of PMR aimed at increasing participant diversity, by providing investigator and researcher perspectives on and questions about the assumed value of ROR in PMR.

Methods: Semi-structured interviews with a …

Bridging The Gap: Transforming Primary Care Through The Artificial Intelligence And Machine Learning For Primary Care (Aim-Pc) Curriculum, Winston Liaw, Brian Hischier, Cornelius A James, Ioannis Kakadiaris, Jacqueline K Kueper, Vasiliki Rahimzadeh

Center for Medical Ethics and Health Policy Staff Publications

No abstract provided.

Towards Objective, Temporally Resolved Neurobehavioral Predictors Of Emotional State, Katherine E Kabotyanski, Han G Yi, Rahul Hingorani, Brian S Robinson, Hannah P Cowley, Matthew S Fifer, Brock A Wester, Bishal Lamichhane, Ashutosh Sabharwal, Anusha B Allawala, Sameer V Rajesh, Nabeel Diab, Raissa K Mathura, Victoria Pirtle, Joshua Adkinson, Andrew J Watrous, Eleonora Bartoli, Jiayang Xiao, Garrett P Banks, Sanjay J Mathew, Wayne K Goodman, Xaq Pitkow, Nader Pouratian, Benjamin Y Hayden, Nicole R Provenza, Sameer A Sheth

Staff and Researcher Publications

No abstract provided.

Faslpr Gene Dosage Tunes The Extent Of Lymphoproliferation And T Cell Differentiation In Lupus, Ritu Bohat, Xiaofang Liang, Yanping Chen, Chunyu Xu, Ningbo Zheng, Ashley Guerrero, Jiakai Hou, Roshni Jaffery, Nicholas A Egan, Yaxi Li, Yitao Tang, Esra Unsal, Adolfo Robles, Si Chen, Angela M Major, Hadil Elldakli, Sang-Hyuk Chung, Han Liang, M John Hicks, Yong Du, Jamie S Lin, Xiqun Chen, Chandra Mohan, Weiyi Peng

Faculty, Staff and Student Publications

Sle1 and Fas^lpr are two lupus susceptibility loci that lead to manifestations of systemic lupus erythematosus. To evaluate the dosage effects of Fas^lpr in determining cellular and serological phenotypes associated with lupus, we developed a new C57BL/6 (B6) congenic lupus strain, B6.Sle1/Sle1.Fas^lpr/+ (Sle1homo.lprhet) and compared it with B6.Fas^lpr/lpr (lprhomo), B6.Sle1/Sle1 (Sle1homo), and B6.Sle1/Sle1.Fas^lpr/lpr (Sle1homo.lprhomo) strains. Whereas Sle1homo.lprhomo mice exhibited profound lymphoproliferation and early mortality, Sle1homo.lprhet mice had a lifespan comparable to B6 mice, with no evidence of splenomegaly or lymphadenopathy. Compared to B6 monogenic lupus strains, Sle1homo.lprhet mice exhibited significantly …

Liver Directed Adeno-Associated Viral Vectors To Treat Metabolic Disease, Marcel A Chuecos, William R Lagor

Faculty, Staff and Students Publications

The liver is the metabolic center of the body and an ideal target for gene therapy of inherited metabolic disorders (IMDs). Adeno-associated viral (AAV) vectors can deliver transgenes to the liver with high efficiency and specificity and a favorable safety profile. Recombinant AAV vectors contain only the transgene cassette, and their payload is converted to non-integrating circular double-stranded DNA episomes, which can provide stable expression from months to years. Insights from cellular studies and preclinical animal models have provided valuable information about AAV capsid serotypes with a high liver tropism. These vectors have been applied successfully in the clinic, particularly …

Call The Experts: Identifying Stakeholders In The Long-Term Care Of Youth With Hypospadias, Vinaya P Bhatia, Kristin Ebert, Shannon Cannon, Walid A Farhat, Heidi W Brown, Jane Mahoney, Marisa E Hilliard, Kristina L Penniston

Faculty, Staff and Students Publications

Long-term follow-up for individuals with hypospadias remains a critical area of need, yet evidence-based guidelines for such follow-up are lacking, and the role of involvement of relevant experts is not yet established. Using our hypospadias-specific health-related quality of life conceptual framework and a subsequent qualitative study of prepubertal males and parents of males with hypospadias, we identified potential priorities for long-term follow-up of youth with hypospadias. Using thematic codes from our patient and parent interviews, we searched PubMed for relevant articles and identified the specialties represented by all the authors of these articles. Our search strategy revealed consistent expertise across …

Welcoming 2024: Supporting Students' Well-Being, Eric A Storch, Rick Yang

Faculty, Staff and Students Publications

No abstract provided.

Salivary Biomarkers: The Early Diagnosis Of Alzheimer's Disease, S. Nazir

School of Engineering, Computing and Mathematics

The precise identification of Alzheimer's disease and other prevalent neurodegenerative diseases remains a difficult issue that requires the development of early detection of the disease and inexpensive biomarkers that can replace the present cerebrospinal fluid and imaging biomarkers. Blood biomarkers, such as amyloid and neurofilament light, have been emphasized as an important and practical tool in a testing or examination procedure thanks to advancements in ultra-sensitive detection techniques. Although saliva is not currently being researched for neurodegenerative diseases, it is an important source of biomarkers that can be used for the identification of diseases and has some advantages over other …

Federated Learning For Efficient Spectrum Allocation In Open Ran, Muhammad Asad, Safa Otoum

School of Engineering, Computing and Mathematics

In the evolving landscape of Open Radio Access Networks (Open RAN), the dynamic and unpredictable nature of network conditions presents significant challenges for traditional spectrum allocation strategies. This paper introduces an innovative framework that leverages Federated Learning (FL) to refine and enhance spectrum allocation within Open RAN. Utilizing the decentralized architecture of FL, our model introduces a system that is not only more adaptive to real-time changes but also offers enhanced robustness for spectrum management. We delve into the advantages of this approach, such as significant improvements in data traffic management, latency reduction, and overall network capacity enhancement. Additionally, we …

'A Knock At The Door': A Memoir With A Supplemental Dissertation About Its Craft In The Context Of Alan Bennett's 'The Lady In The Van' And Lemn Sissay's 'My Name Is Why', Robert Parsons

School of Law, Humanities and Social Sciences Theses

My project has two elements: a memoir, titled 'A Knock at the Door', and a critical dissertation.On December 23rd, 1975, Ronnie, a homeless man who had spent the majority of his childhood in care and had educational challenges, knocked on our door. At that time, I was a young lawyer and had been married for four years. I invited him in; my wife and I gave him a meal and offered that he stay the night. He never left. He died in September 2020 having lived with us for forty-five years. During that time, we had children, brought them up …

Utilising Blood-Derived Products For Guided Tissue Regeneration In Periradicular Surgery: A Systematic Review And Meta-Analysis, Gabriele Baniulyte, Lorna Burns, Kamran Ali

Peninsula Dental School

BackgroundSince 1982, guided tissue regeneration (GTR) has become increasingly popular. The recent progress in GTR research focuses on the application of blood-derived products. However, no comprehensive systematic review has been conducted to assess its effectiveness specifically in periradicular surgery. Therefore, the aim of this review was to analyse the outcomes of root-end surgery compared to periapical surgery incorporating GTR using blood-derived products.MethodsThis review involved randomised controlled trials exploring the comparison between GTR utilising blood-derived products and the conventional periapical surgery. The databases Embase, MEDLINE, Cochrane CENTRAL, and Dentistry and Oral Sciences Source were searched, with the most recent search conducted …

Studying Ht-Mcss In Ieee 802.11n Networks Via Simulations, Jun Peng

Electrical and Computer Engineering Faculty Publications

We study the High Throughput Modulation and Coding Schemes (HT-MCS) in IEEE 802.11n In networks in this paper. The HT-MCSs are designed to deal with various channel conditions in the networks. We used ns-3 simulations to study HT-MCS 0 to HT-MCS 31 under various radio propagation models. The simulation results are presented in this paper. In our simulations the HT-MCSs were tested in networks with Friis, Nakagami, and log-distance propagation models for studying their performance under various signal attenuation and fading effects. The HT-MCSs provided consistent performance under most channel conditions in our simulations. However, they showed significantly degraded performance …

Approximating Discrimination Within Models When Faced With Several Non-Binary Sensitive Attributes, Yijun Bian, Yujie Luo, Ping Xu

Electrical and Computer Engineering Faculty Publications

Discrimination mitigation with machine learning (ML) models could be complicated because multiple factors may interweave with each other including hierarchically and historically. Yet few existing fairness measures are able to capture the discrimination level within ML models in the face of multiple sensitive attributes. To bridge this gap, we propose a fairness measure based on distances between sets from a manifold perspective, named as ‘harmonic fairness measure via manifolds (HFM)’ with two optional versions, which can deal with a fine-grained discrimination evaluation for several sensitive attributes of multiple values. To accelerate the computation of distances of sets, we further propose …

Identification Of Druggable Regulators Of Cell Secretion Via A Kinome-Wide Screen And High-Throughput Immunomagnetic Cell Sorting, Mahmoud Labib, Zongjie Wang, Yunhye Kim, Sichun Lin, Abdalla Abdrabou, Hanie Yousefi, Pei Ying Lo, Stéphane Angers, Edward H. Sargent, Shana O. Kelley

Peninsula Medical School

The identification of genetic regulators of cell secretions is challenging because it requires the sorting of a large number of cells according to their secretion patterns. Here we report the development and applicability of a high-throughput microfluidic method for the analysis of the secretion levels of large populations of immune cells. The method is linked with a kinome-wide loss-of-function CRISPR screen, immunomagnetically sorting the cells according to their secretion levels, and the sequencing of their genomes to identify key genetic modifiers of cell secretion. We used the method, which we validated against flow cytometry for cytokines secreted from primary mouse …

Improved Structure And Function In Early-Detected Second-Eye Neovascular Age-Related Macular Degeneration: Fasbat/Early Detection Of Neovascular Age-Related Macular Degeneration Report 1, Fasbat Study Group, Richard P Gale, Archana Airody, Sobha Sivaprasad, Rachel L W Hanson, Victoria Allgar, Martin Mckibbin, Antony B Morland, Tunde Peto, Mia Porteous, Usha Chakravarthy

Peninsula Medical School

PURPOSE: Visual acuity (VA) and structural biomarker assessment before and 24-months after early detection and routine treatment of second-eye involvement with neovascular age-related macular degeneration (nAMD) and additional comparison with the first eye affected.

DESIGN: Prospective, 22-center observational study of participants with unilateral nAMD in the Early Detection of Neovascular AMD (EDNA) study, coenrolled into the Observing Fibrosis, Macular Atrophy and Subretinal Highly Reflective Material, Before and After Intervention with anti-VEGF Treatment (FASBAT) study for an additional 2-year follow-up.

PARTICIPANTS: Older adults (> 50 years) with new onset nAMD in the first eye.

METHODS: Assessment of both eyes with OCT, …

The Role Of Data Sharing In Transboundary Waterways: The Case Of The Helmand River Basin, Najibullah Loodin, Gabriel Eckstein, Vijay P. Singh, Rosario Sanchez

Faculty Scholarship

While data and information exchanges theoretically play an effective role in the decision-making process of a shared watercourse, in practice, there are several challenges that prevent riparians from sharing data in an effective and cooperative manner. This chapter seeks to assess why the riparian nations of the Helmand River have failed to adopt an effective data exchange mechanism although both nations signed an internationally recognized bilateral water treaty in 1973. Applying a mixed study approach, the study draws on the theory of planned behavior (TPB) to interpret the main obstacles of data sharing between Afghanistan, the upstream state, and Iran, …

Hydrogen Production From Microbial Electrolysis Cells Powered With Microbial Fuel Cells, Dina Aboelela

Biochemical Engineering

No abstract provided.

Process Simulation For Converting Co2 Emissions From The Cementindustry To Dimethyl Ether, Nour Abou Seada, Dina Aboelela

Biochemical Engineering

Climate change is the leading severe problem in the twenty-first century, which is associated with greenhouse gas emissions,carbon dioxide that is the foremost cause of global warming and super greenhouse effect. In this concern, to avoid hazardousproblems, the steady stream of CO2 effluents existing in the atmosphere must be transformed to beneficial products for beingused as an abundant chemical feedstock. Implementing a new green strategy, which is known for the catalytic hydrogenationof CO2 into alternative fuels and valuable chemicals, will be a long-lasting solution to alleviate CO2 emissions. In this paper,a process simulation showing the synthesis of dimethyl ether (DME) …

What Is The Volume, Quality And Characteristics Of Evidence Relating To The Effectiveness And Cost-Effectiveness Of Multi-Disciplinary Occupational Health Interventions Aiming To Improve Work-Related Outcomes For Employed Adults? An Evidence And Gap Map Of Systematic Reviews, Elizabeth Shaw, Michael Nunns, Stuart G. Spicer, Hassanat Lawal, Simon Briscoe, G. J. Melendez-Torres, Ruth Garside, Kristin Liabo, Jo Thompson Coon

Peninsula Medical School

Background: In the UK, tens of millions of working days are lost due to work-related ill health every year, costing billions of pounds. The role of Occupational Health (OH) services is vital in helping workers to maintain employment when they encounter injury or illness. OH providers traditionally rely on a clinical workforce to deliver these services, particularly doctors and nurses with OH qualifications. However, the increasing demand for OH services is unlikely to be met in the future using this traditional model, due to the declining number of OH-trained doctors and nurses in the UK. Multi-disciplinary models of OH delivery, …