Digital Commons Network^™

Characterizing The Genetic Basis For Inherited Retinal Disease: Lessons Learned From The Foundation Fighting Blindness Clinical Consortium's Gene Poll, Kari Branham, Lassana Samarakoon, Isabelle Audo, Allison R Ayala, Janet K Cheetham, Stephen P Daiger, Patty Dhooge, Jacque L Duncan, Todd A Durham, Abigail T Fahim, Rachel M Huckfeldt, Robert B Hufnagel, Susanne Kohl, Ramiro S Maldonado, Michele Melia, Michel Michaelides, Mark E Pennesi, José-Alain Sahel, Juliana M Ferraz Sallum, Mandeep S Singh, Dror Sharon, Kimberly Stepien, Kaylie Jones, Christina Y Weng

Faculty, Staff and Students Publications

PURPOSE: The Foundation Fighting Blindness (FFB) Consortium is a collaboration of 41 international clinical centers that manage patients affected with inherited retinal diseases (IRDs). The annual Consortium gene poll was initiated in 2020 to capture the genetic cause of disease in patients with IRD and associated clinical practices of Consortium sites. Data from the 2022 gene poll are reported here.

METHODS: In 2022, academic, private practice, and government ophthalmology clinics that are members of the Consortium centers were polled to identify per-case IRD genetic causality from a list of 387 syndromic and nonsyndromic IRD genes. The survey also assessed how …

From Bench To Bedside: Murine Models Of Inherited And Sporadic Brain Arteriovenous Malformations, Ashely R Ricciardelli, Gael Genet, Nafiisha Genet, Samuel T Mcclugage, Peter T Kan, Karen K Hirschi, Jason E Fish, Joshua D Wythe

Faculty, Staff and Students Publications

Brain arteriovenous malformations are abnormal vascular structures in which an artery shunts high pressure blood directly to a vein without an intervening capillary bed. These lesions become highly remodeled over time and are prone to rupture. Historically, brain arteriovenous malformations have been challenging to treat, using primarily surgical approaches. Over the past few decades, the genetic causes of these malformations have been uncovered. These can be divided into (1) familial forms, such as loss of function mutations in TGF-β (BMP9/10) components in hereditary hemorrhagic telangiectasia, or (2) sporadic forms, resulting from somatic gain of function mutations in genes involved in …

Cumulative Excess Body Mass Index And Mgus Progression To Myeloma, Lawrence Liu, Nikhil Grandhi, Mei Wang, Ekaterina Proskuriakova, Theodore Thomas, Martin W Schoen, Kristen M Sanfilippo, Kenneth R Carson, Alissa Visram, Celine Vachon, Graham Colditz, Murali Janakiram, Mengmeng Ji, Su-Hsin Chang

2020-Current year OA Pubs

IMPORTANCE: Obesity is a risk factor associated with multiple myeloma (MM) and its precursor, monoclonal gammopathy of unknown significance (MGUS). However, it is unclear how cumulative exposure to obesity affects the risk of MGUS progression to MM.

OBJECTIVE: To determine the association of cumulative exposure to excess body mass index (EBMI), defined as BMI (calculated as weight in kilograms divided by height in meters squared) greater than 25, with risk of MGUS progression to MM.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study included patients with MGUS, including immunoglobin G, immunoglobin A, or light chain MGUS, from the nationwide US Veterans …

Racial Differences In Ctdna Profiles, Targeted Therapy Use, And Outcomes In Metastatic Breast Cancer, Emily L Podany, Katherine Clifton, Shaili Tapiavala, Foluso O Ademuyiwa, Cynthia X Ma, Andrew A Davis, Et Al.

2020-Current year OA Pubs

IMPORTANCE: Black patients with metastatic breast cancer (mBC) have higher mortality rates than White patients despite advances in treatment.

OBJECTIVES: To examine whether Black patients with metastatic breast cancer have different genomic profiles compared with White patients and whether there are inequities in targeted treatment use between these groups.

DESIGN, SETTING, AND PARTICIPANTS: This retrospective, population-based cohort study assessed adult patients with mBC who underwent genomic profiling at academic institutions in the US between January 1, 2015, and December 31, 2023. Data analysis was performed between July 2023 and July 2024. A validation cohort was also included.

EXPOSURES: Targeted treatment …

Safety And Tolerability Of Letetresgene Autoleucel (Gsk3377794): Pilot Studies In Patients With Advanced Non-Small Cell Lung Cancer, Mehmet Altan, Ramaswamy Govindan, Et Al.

2020-Current year OA Pubs

PURPOSE: The study aims to evaluate the safety, tolerability, and antitumor response of letetresgene autoleucel (lete-cel), genetically modified autologous T cells expressing a T-cell receptor specific for New York esophageal squamous cell carcinoma 1 (NY-ESO-1)/LAGE-1a shared epitope, alone or in combination with pembrolizumab, in HLA-A*02-positive (HLA-A*02:01, HLA-A*02:05, and/or HLA-A*02:06) patients with NY-ESO-1- and/or LAGE-1a-positive non-small cell lung cancer.

PATIENTS AND METHODS: Study 208749 was a single-arm study of lete-cel alone. Study 208471 was a multiarm study of lete-cel alone or in combination with pembrolizumab in patients with advanced or recurrent non-small cell lung cancer.

RESULTS: More than 2,500 patients were …

Intersection Of Race And Rurality With Health Care-Associated Infections And Subsequent Outcomes, Katelin B Nickel, Hannah Kinzer, Anne M Butler, Karen E Joynt Maddox, Victoria J Fraser, Jason P Burnham, Jennie H Kwon

2020-Current year OA Pubs

IMPORTANCE: Health care-associated infections (HAIs) are a major cause of morbidity and mortality, but little is known about whether structural factors impacting race and rurality are associated with HAI and subsequent outcomes.

OBJECTIVE: To evaluate the association of race and rurality, which are proxies for structural disadvantage, with HAI and subsequent outcomes.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study was conducted at 3 US urban and suburban hospitals. Participants were adults aged 18 years or older admitted for 48 hours or longer from January 1, 2017, to August 31, 2020. Statistical analysis was performed from November 2022 to April 2024. …

Advances In The Development Of Mitochondrial Pyruvate Carrier Inhibitors For Therapeutic Applications, Henry Politte, Lingaiah Maram, Bahaa Elgendy

2020-Current year OA Pubs

The mitochondrial pyruvate carrier (MPC) is a transmembrane protein complex critical for cellular energy metabolism, enabling the transport of pyruvate from the cytosol into the mitochondria, where it fuels the citric acid cycle. By regulating this essential entry point of carbon into mitochondrial metabolism, MPC is pivotal for maintaining cellular energy balance and metabolic flexibility. Dysregulation of MPC activity has been implicated in several metabolic disorders, including type 2 diabetes, obesity, and cancer, underscoring its potential as a therapeutic target. This review provides an overview of the MPC complex, examining its structural components, regulatory mechanisms, and biological functions. We explore …

Differential Impact Of Lymphatic Outflow Pathways On Cerebrospinal Fluid Homeostasis, Zachary Papadopoulos, Leon C D Smyth, Igor Smirnov, Daniel A Gibson, Jasmin Herz, Jonathan Kipnis

2020-Current year OA Pubs

Dysfunctional lymphatic drainage from the central nervous system (CNS) has been linked to neuroinflammatory and neurodegenerative disorders, but our understanding of the lymphatic contribution to CNS fluid autoregulation remains limited. Here, we studied forces that drive the outflow of the cerebrospinal fluid (CSF) into the deep and superficial cervical lymph nodes (dcLN and scLN) and tested how the blockade of lymphatic networks affects CNS fluid homeostasis. Outflow to the dcLN occurred spontaneously in the absence of lymphatic pumping and was coupled to intracranial pressure (ICP), whereas scLN drainage was driven by pumping. Impaired dcLN drainage led to elevated CSF outflow …

Impacts Of Changing Temperatures On The Water Budget In The Great Salt Lake Basin, Grace Affram, Jihad Othman, Reza Morovati, Saddy Pineda Castellanos, Sajad Khoshnoodmotlagh, Diana Dunn, Braedon Dority, Katherine Osorio Diaz, Cody Ratterman, Wei Zhang

Plants, Soils and Climate Student Research

Quantifying the water budget in the Great Salt Lake (GSL) basin is a nontrivial task, especially under a changing climate that contributes to increasing temperatures and a shift towards more rainfall and less snowfall. This study examines the potential impacts of temperature thresholds on the water budget in the GSL, emphasizing the influence on snowmelt, evapotranspiration (ET), and runoff under varying climate warming scenarios. Current hydrological models such as the Variable Infiltration Capacity (VIC) model use a universal temperature threshold to partition snowfall and rainfall across different regions. Previous studies have argued that there is a wide range of thresholds …

The Effect Of Cigarette Smoking And Heated Tobacco Products On Different Denture Materials; An In Vitro Study., Sara Fikry, Mahmoud Ankily Dr, Fatma Makkeyah Dr, Mohamed Shamel Dr, Eman Khedr Dr, Sara Motaz Dr, Ayman Amin Dr

Dentistry

Abstract Purpose This study compares the effect of conventional cigarette smoke versus heated tobacco on the discoloration, surface roughness, and bacterial colonization of different oral prosthesis materials. Materials and methods A total of one hundred and twenty disc-shaped samples made of four different denture base materials were prepared to represent different denture bases to assess the surface roughness and biofilm formation; group (CA): conventional heat-cured acrylic resin (Acrostone, Egypt), group (FA): flexible acrylic resin (Valplast International Corp, USA), group (TA): heat-cured acrylic resin reinforced with titanium nanoparticles (TA nanoparticles, Nanogate, Egypt), and group (PA): 3D printed acrylic resin (Nexdent, The …

Defining The Role Of Adjuvant Radiotherapy For Biliary Tract Cancers: A Site-Specific Propensity-Matched Analysis, Yongwoo David Seo, Belkacem Acidi, Andrew Newton, Antony Haddad, Yi-Ju Chiang, Rainna Coelho, Timothy E Newhook, Ching-Wei D Tzeng, Yun Shin Chun, Ethan B Ludmir, Eugene J Koay, Milind Javle, Jean Nicolas Vauthey, Hop S Tran Cao

Faculty, Staff and Student Publications

Background: Biliary tract cancers (BTCs) have distinct tumor biology but share a poor prognosis, with a 5-year-survival-rate of 5-19%. Surgical resection is the only potential cure, but recurrences are common. The role of adjuvant radiotherapy (XRT) remains unclear.

Methods: Using the National Cancer Database (2006-2018), we analyzed resected non-metastatic BTCs. Patients who survived beyond 90 days post-surgery were included, while those with R2 resections or neoadjuvant therapy were excluded. Propensity matching was performed based on predictors of adjuvant radiation, age, and sex. Survival outcomes were compared between no adjuvant therapy, chemotherapy alone, and XRT ± chemotherapy.

Results: …

Investigating The In Vivo Effects Of Anti-Prion Protein Nanobodies On Prion Disease With Aav Vector, Jingjing Zhang, Mengfei Wang, Dan Wang, Xiangyi Zhang, Yue Ma, Els Pardon, Jan Steyaert, Romany Abskharon, Fei Wang, Jiyan Ma

Faculty, Staff and Student Publications

Prion diseases are fatal neurodegenerative disorders affecting humans and animals, and the central pathogenic event is the conversion of normal prion protein (PrPC) into the pathogenic PrPSc isoform. Previous studies have identified nanobodies that specifically recognize PrPC and inhibit the PrPC to PrPSc conversion in vitro. In this study, we investigated the potential for in vivo expression of anti-PrPC nanobodies and evaluated their impact on prion disease. The coding sequences of three nanobodies were packaged into recombinant adeno-associated virus (rAAV) and were administered via intracerebroventricular (ICV) injection in newborn mice. We found that the expression of these nanobodies remained robust …

Cardiovascular Disease In Adults With Osteogenesis Imperfecta: Clinical Characteristics, Care Recommendations, And Research Priorities Identified Using A Modified Delphi Technique, Lars Folkestad, Siddharth K Prakash, Sandesh C S Nagamani, Niels Holmark Andersen, Erin Carter, Jannie Dahl Hald, Riley J Johnson, Bente Langdahl, Eleanor M Perfetto, Cathleen Raggio, Stuart H Ralston, Robert A Sandhaus, Oliver Semler, Laura Tosi, Eric Orwoll

Faculty, Staff and Student Publications

Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels, and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI. However, there is no consensus on how CVD in OI should be assessed or managed. To fill this gap, a multidisciplinary group was convened to develop clinical guidance. The work included a systematic review of the …

Dairy Consumption And The Colonic Mucosa-Associated Gut Microbiota In Humans-A Preliminary Investigation, Ellie Chen, Nadim J Ajami, Donna L White, Yanhong Liu, Shawn Gurwara, Kristi Hoffman, David Y Graham, Hashem B El-Serag, Joseph F Petrosino, Li Jiao

Faculty, Staff and Students Publications

Background: Dairy consumption has been associated with various health outcomes that may be mediated by changes in gut microbiota.

Methods: This cross-sectional study investigated the association between the colonic mucosa-associated gut microbiota and the self-reported intake of total dairy, milk, cheese, and yogurt. A total of 97 colonic mucosal biopsies collected from 34 polyp-free individuals were analyzed. Dairy consumption in the past year was assessed using a food frequency questionnaire. The 16S rRNA gene V4 region was amplified and sequenced. Operational taxonomic unit (OTU) classification was performed using the UPARSE and SILVA databases. OTU diversity and relative abundance were compared …

Volume 37-1 Complete Issue, C. Nicholas Raphael

The Geographical Bulletin

Volume 37-1 Complete Issue

Place And Cultural Identity Among Guatemalan Indians: "The Fragility Of Goodness", Edward Davis

The Geographical Bulletin

Place experience may be more important to culture groups in war-torn and impoverished countries than to those in stable, developed regions. There is evidence from diverse sources that place experiences are directly relevant to the distinct Indian identities found within Guatemala's western highlands. Individual municipios often are distinct in their clothing, language and attachment to the land. A rereading of ethnographies gathered during the last few decades, along with new survey data, suggest that place and identity are strongly linked, possibly in part as a response to a history of violence and oppression in the region.

A Review On Exploring Artificial Intelligence Applications, Advancements, Issues, And Future Challenges, Sajid Naeem, Novman Nabeel, Waseem Beg, Shujaat Ali, Rajiv N. Kanojiya, Satish S. Mandawade, Chetan R. Yewale, Sc Kulkarni, Vt Salunke, Av Patil

Polytechnic Journal

Artificial intelligence (AI) is a transformative technology with diverse applications that is transforming several industries. AI is the use of systems and technology to replicate human intelligence and solve common real-world issues. Machine learning (ML) and deep learning are AI technologies that use algorithms to more accurately predict occurrences without the need for human intervention. Explainable Artificial Intelligence (XAI) refers to AI that can explain decisions or forecasts to human users. XAI seeks to improve AI systems' transparency, trustworthiness, and accountability, particularly when utilized in high-risk applications such as healthcare, finance, or security. This review article provides a thorough overview …

Woody Plant Reinvasion Shortens The Lifespan Of Grassland Restoration Treatments, Dillon T. Fogarty, Michele Beadle, Craig R. Allen, Christine Bielski, Dirac Twidwell

Biology Student Work

An important question in restoration ecology is whether restored ecological regimes are more vulnerable to transitions back to a degraded state. In woody-invaded grasslands, high-intensity fire can collapse woody plant communities and induce a shift back to a grass-dominated regime. Yet, legacies from woody-dominated regimes often persist and it remains unclear whether restored regimes are at heightened vulnerability to reinvasion. In this study, we utilize a 17-year history of fire-based restoration in Nebraska's Loess Canyons Experimental Landscape to determine whether restored grassland regimes experience faster rates of Juniperus virginiana (eastern redcedar) reinvasion compared to the initial invasion process in adjacent …

Effects Of Initial Foot Position On Neuromuscular And Biomechanical Control During The Stand-To-Sit Movement: Implications For Rehabilitation Strategies, Woohyoung Jeon, Ashley Dalby, Xuanliang Neil Dong, Chung-Hyun Goh

Health & Kinesiology Faculty Publications and Presentations

Background: Initial foot position (IFP) is one of the important movement strategies that influence neuromuscular and biomechanical control during sit-to-stand (STS) movements. Similarly, stand-to-sit (StandTS) is vital in rehabilitation settings for evaluating strength and balance control during descending movements. Understanding how IFP impacts changes in biomechanical and neuromuscular movement control factors during StandTS can provide valuable insights for designing effective rehabilitation programs.

Methods: Twelve healthy young adults participated in this study, examining three symmetric IFPs: (1) REF (reference); (2) wide: each foot was shifted outwards by 30% from REF; (3) TO (toes-out): symmetric toes-out angle of 30° from REF. Kinematic …

Covid-19- In Children Evidence For Treatment With Remdesivir, Children's Mercy Kansas City

Clinical Critically Appraised Topics

No abstract provided.

February 2025 Quicknotes, Southern Adventist University

QuickNotes – Advancement e-Newsletter

QuickNotes is an e-newsletter that comes from Advancement at Southern Adventist University. The February 2023 edition features information the ivory comb exhibit, MLK Service Day, and a new scholarship.

Magnetus: A Magnetized Plasma Research Ecosystem, N. C. Hurst, M. Abler, Michael R. Brown, J. Juno, E. G. Kostadinova, N. A. Murphy, J. Olson, D. M. Orlov, D. B. Schaeffer, D. A. Schaffner, E. E. Scime, T. M. Tenbarge, S. C. Thakur

Physics & Astronomy Faculty Works

MagNetUS is a network of scientists and research groups that coordinates and advocates for fundamental magnetized plasma research in the USA. Its primary goal is to bring together a broad community of researchers and the experimental and numerical tools they use in order to facilitate the sharing of ideas, resources and common tasks. Discussed here are the motivation and goals for this network and details of its formation, history and structure. An overview of associated experimental facilities and numerical projects is provided, along with examples of scientific topics investigated therein. Finally, a vision for the future of the organization is …

Uaa Report And Findings, National Technology & Engineering Solutions Of Sandia, Llc (Ntess) And Department Of Energy (Doe)

Tijeras Arroyo Use Attainability Analysis

Between 2018 and 2023 NTESS and DOE conducted a UAA for the Rio Grande to Four Hills Reach of Tijeras Arroyo (AU NM-9000.A_070). The UAA was conducted to formally evaluate whether the Rio Grande to Four Hills Bridge reach of Tijeras Arroyo exhibits characteristics of an ephemeral water body under 20.6.4.97 NMAC. Based on the information presented in the UAA, the Rio Grande to Four Hills Bridge reach of Tijeras Arroyo (AU NM-9000.A_070) exhibits characteristics of an ephemeral water body. NTESS and DOE intend to petition the New Mexico Water Quality Control Commission for an amendment of the reach’s classification …

Research Update - February 2025, Office Of Research

Research Update

No abstract provided.

Daily Announcements February 2025, Wofford College. Office Of Marketing And Communications

Communications Office Daily Announcements

No abstract provided.

Uaa Public Involvement, National Technology & Engineering Solutions Of Sandia, Llc (Ntess) And Department Of Energy (Doe), U.S. Department Of Energy

Tijeras Arroyo Use Attainability Analysis

Between 2018 and 2023 NTESS and DOE conducted a UAA for the Rio Grande to Four Hills Reach of Tijeras Arroyo (AU NM-9000.A_070). The UAA was conducted to formally evaluate whether the Rio Grande to Four Hills Bridge reach of Tijeras Arroyo exhibits characteristics of an ephemeral water body under 20.6.4.97 NMAC. Based on the information presented in the UAA, the Rio Grande to Four Hills Bridge reach of Tijeras Arroyo (AU NM-9000.A_070) exhibits characteristics of an ephemeral water body. NTESS and DOE intend to petition the New Mexico Water Quality Control Commission for an amendment of the reach’s classification …

Operationalizing And Measuring Climate Change Adaptation Success, Henry A. Bartelet, Michele L. Barnes, Lalu A.A. Bakti, Graeme S. Cumming

Quantitative Methods and Information Technology Faculty Publications

In a context of rapid global change, understanding whether and how adaptation to climate change can be considered successful has become an important research gap within the climate change adaptation literature. Although definitions of adaptation success have been formulated, it remains unclear how they can be operationalized and tested empirically. To address this gap, we operationalized one of the most prominent definitions of successful adaptation within the academic literature, which describes success as adaptations that support reductions in risk and vulnerability without compromising sustainability. Specifically, drawing on data collected from 209 coral reef tourism operators across 28 locations and eight …

3d Printing Insect Models For K-12 Education, Henry L. Whittemore, Jason Oliver, Karla M. Addesso

Extension Publications

No abstract provided.

An Approach To Estimate Angling Effort, Catch, And Harvest Of Burbot Lota Lota, Collin J. Mitchell

Biology Graduate Theses

Once commonly thought of as a nuisance, Burbot Lota lota are now being frequently targeted by anglers in Minnesota. However, the amount of angling effort directed at Burbot, the distribution of effort, catch, and harvest are unknown. Historically, creel surveys have been used to estimate angling effort, catch, and harvest. Additionally, digital cameras have been used independently and supplementally to estimate angling effort, catch, and harvest. In this study, we estimate angling effort, catch, and harvest of Burbot using creel survey techniques and motion-activated digital cameras on Bad Medicine Lake, Minnesota, while also investigating and exploring the limitations of these …

A Numerical Assessment Of Ocean Alkalinity Enhancement Efficiency On A River-Dominated Continental Shelf—A Case Study In The Northern Gulf Of Mexico, Yanda Ou, Z. George Xue, Xinping Hu

Faculty Publications

A robust high-resolution coupled hydrodynamic-biogeochemical model was applied to the northern Gulf of Mexico to assess the efficiency of river- and ocean-sourced ocean alkalinity enhancement (OAE). Sensitivity tests indicate that the effectiveness of OAE-induced CO2 uptake is primarily influenced by the amount of alkalinity introduced and local wind-driven mixing, with the former determining the overall uptake and the latter affecting short-term variability. Compared to ocean-sourced OAE (direct ocean release), river-sourced OAE (elevated river alkalinity) is more effective and sustainable. River-sourced OAE has higher CO2 uptake efficiency with reduced spatial and temporal uncertainty and greater overall CO2 uptake. For river-sourced OAE, …