Digital Commons Network^™

The Murdock Daily Reilly (M.D.R.) Scale: A Pressure Injury Risk Assessment Scale For Critical Care, Ann Murdock, Andrea Daily, Deby Reilly, Shih-Ting Chiu, Melissa Robinson

Publications 2026-present

No abstract provided.

3d Geometric Modelling And Clinical Validation Of Lower Limb And Preliminary 2-Year Post-Operative Clinical Outcomes Of Neutral Boundary Alignment In Total Knee Arthroplasty, Bruno Violante, Lorenzo Deveza, Francesco Pollara, Giovanni Rusconi, Gianroberto Ferreri, Alessandro Annibaldi, Ilwhan Park

Faculty, Staff and Students Publications

Purpose: To introduce a novel three-dimensional (3D) modelling concept for lower limb alignment in total knee arthroplasty (TKA), termed neutral boundary alignment (NBA) and to present preliminary clinical data supporting this physics-based custom alignment strategy.

Methods: NBA is defined as the alignment at which the knee joint line is parallel to the ground during the mid-stance phase of gait, achieving static equilibrium with the NBA axis aligned to gravity. A theoretical geometric model of the lower limb was developed, integrating principles of physics to describe this condition. Preliminary clinical validation was performed using radiographic data from an initial cohort of …

A Comparative Analysis Of The Sport Mental Health Assessment Tool (Smhat-1) Between Paediatric And Adult Olympic And Paralympic Athletes, Ashley N Triplett, Travis Anderson, Eric G Post, Jessica Bartley, Jeffrey S Shilt, Eric L Dugan, Amber Donaldson, Jonathan Finnoff, William M Adams

Faculty, Staff and Students Publications

Objective: To determine if paediatric athletes exhibit differences in positive screenings on the Sport Mental Health Assessment Tool (SMHAT-1) compared with adults.

Methods: Team USA Olympic and Paralympic paediatric athletes ≤21 years (n=589; 58.8% female; age=19.5±1.7 years) completed the SMHAT-1 between January 2021 and September 2024. A comparative sample of Team USA adult athletes (n=493, 54.2% female; age=27.3±4.9 years) matched for sex and sport was randomly sampled, and the percentage of athletes with a positive screening on each questionnaire was calculated. χ2 analysis compared the proportion of positive screenings between paediatric and adult samples. Piecewise linear regression assessed the association …

Npd Winner's Circle: Overcoming Imposter Syndrome In New Clinical Specialties, Leanna Ross

Publications 2026-present

No abstract provided.

Professionalism In Practice: A Novel Approach To Integrating Small Doses Of Case-Based Professionalism Education Into Monthly Grand Rounds., Allison H Taylor, Andrew Caruso, Kelley Arredondo, Ellen M Friedman, Stacey R Rose

Faculty, Staff and Students Publications

Introduction: Professionalism is a critical construct across the health professions, though learners and faculty report feeling underprepared to navigate difficult situations; education in professionalism is challenged by the absence of a universal definition, time constraints due to overcrowded curricula, and the lack of consistent messaging to learners and faculty.

Methods: Professionalism in Practice (PiP) was developed to provide small doses (∼5 minutes) of case-based professionalism education as part of an existing educational forum (Grand Rounds) to optimize attendance of both learners and faculty. Each vignette highlighted a common professionalism challenge and was aligned with an AAMC professional competency. Sessions were …

Unraveling Posttranslational Modification Complexity: Advances In Quantitative Histone Proteoform Mass Spectrometry, Karl F Poncha, Alyssa T Paparella, Nicolas L Young

Faculty, Staff and Students Publications

Histone proteins and their posttranslational modifications are central to chromatin structure and function. These modifications often occur in combinations, generating a diverse array of histone proteoforms that contribute to the dynamic regulation of chromatin architecture. Advancements in mass spectrometry-based proteomics, particularly top-down and middle-down approaches, have significantly enhanced our ability to characterize these proteoforms and elucidate PTM crosstalk. This review provides an analysis of the epigenetic machinery involved in the addition, recognition, and removal of histone PTMs, emphasizing the complexity introduced by histone variants and combinatorial PTM patterns. We examine the challenges and limitations of traditional antibody-based methods for PTM …

Clinical Factors And Diagnoses Associated With Inappropriate Urine Culture Ordering In Primary Care, Marissa Valentine-King, Barbara W Trautner, Michael A Hansen, Roger Zoorob, Lisa C K Danek, Kenneth Muldrew, Forrest Hudson, Robert L Atmar, Larissa Grigoryan

Faculty, Staff and Students Publications

Objective: Evaluate the prevalence and risk factors for inappropriately ordered urine cultures in primary care.

Design: Cross-sectional study using chart reviews.

Setting: Two primary care, safety-net clinics in Houston, Texas.

Patients: Non-pregnant adults without a urinary catheter who had a urine culture and a primary care visit between 11/2018 and 3/2020.

Methods: We classified patients lacking physician documentation of the following symptoms as having an inappropriately ordered urine culture: dysuria, frequency, urgency, hematuria, fever, chills, costovertebral angle tenderness, nephrolithiasis, and pain (suprapubic, pelvic, or flank). We extracted patient demographics, visit-related diagnostic codes, past medical history, and urine culture results. Diagnostic …

In Vivo Volumetric Visualization And Quantification Of Cumulus Expansion In Mice With Intravital Optical Coherence Tomography, Kohei Umezu, Frank J Brooks, Irina Larina

Faculty, Staff and Students Publications

Ovulation is preceded by a critical physiological process known as cumulus expansion, during which the cumulus cell layer surrounding the oocyte undergoes structural remodeling. Despite the recognized importance of this process for reproductive success, live quantitative imaging of cumulus expansion has not been previously achieved due to limitations of current imaging technologies for deeply located ovaries. In this study, we employed intravital optical coherence tomography for three-dimensional visualization of mouse follicles containing cumulus-oocyte complexes (COC) within the physiological context of the ovary, both ex vivo and in vivo. This method enabled time-lapse measurement of cumulus layer thickness and COC …

Evolving Burden Of Metabolic Dysfunction-Associated Steatotic Liver Disease And Its Complications In A Us Nationwide Healthcare System, Basim Ali, Ronald Samuel, Jennifer R Kramer, Liang Li, Xian Yu, Yumei Cao, Roxanne Desiderio, George Cholankeril, Steven M Asch, Hashem B El-Serag, Fasiha Kanwal

Faculty, Staff and Students Publications

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing public health problem. Measuring the burden of cirrhosis and its complications in people with MASLD is important to inform health care delivery.

Methods: We aimed to quantify the changes in the burden of MASLD-related cirrhosis and hepatocellular carcinoma (HCC) in a nationwide U.S. healthcare system. We used data from the Veterans Health Administration to examine temporal trends between 2010 and 2021 in the annual incidence and prevalence of cirrhosis and HCC in a large cohort of patients with MASLD, and to compare them to those in patients with hepatitis C …

Platelet Extravasation In The Microvasculature: An Under-Appreciated Role For Platelets, Justin A Courson, Vahid Afshar-Kharghan, Alan R Burns, Rolando E Rumbaut

Faculty, Staff and Students Publications

In recent years, evidence has accumulated highlighting the presence and role of platelet extravasation - wherein platelets accumulate in tissue parenchyma - at a variety of sites throughout the body. While platelets are traditionally known for their roles in hemostasis and thrombosis, it is evident that platelets are potent mediators of inflammation across an array of physiological and pathological contexts. While anucleate and small in size, platelets contain a rich diversity of molecules in their granules capable of modulating cell proliferation, tissue repair, and a host of immune responses. There is growing evidence that platelet extravasation out of the vascular …

Executive Summary Of The Kdigo 2026 Clinical Practice Guideline For The Management Of Anemia In Chronic Kidney Disease (Ckd), Jodie L Babitt, Jeffrey S Berns, Biykem Bozkurt, Rebecca S Cheung Khedairy, Yarieli Cuevas, Emmanuel E Effa, Michele F Eisenga, Steven Fishbane, Yelena Z Ginzburg, Volker H Haase, S Susan Hedayati, Siah Kim, José A Moura-Neto, Evi V Nagler, Patrick Rossignol, Manisha Sahay, Tetsuhiro Tanaka, Angela Yee-Moon Wang, David C Wheeler, Karen A Robinson, Lisa M Wilson, Renee F Wilson, Amy Earley, Elie A Akl, Marcello Tonelli

Faculty, Staff and Students Publications

The Kidney Disease: Improving Global Outcomes (KDIGO) 2026 Clinical Practice Guideline for the Management of Anemia in Chronic Kidney Disease (CKD) represents an update to the guideline published in 2012. Its scope includes diagnosis and evaluation of anemia; use of iron to treat iron deficiency and anemia in CKD; use of erythropoiesis-stimulating agents and hypoxia-inducible factor-prolyl hydroxylase inhibitors to treat anemia in CKD; and red blood cell transfusions to treat anemia in CKD. The guideline has been developed with patient partners, healthcare providers, and researchers around the world, with the goal to generate a useful resource for healthcare providers and …

Interdisciplinary Swiss Consensus Recommendations For Follow-Up After Radical Cystectomy And Trimodal Treatment For Muscle-Invasive Bladder Cancer, Ernest Kaufmann, Stefanie Aeppli, Andres Affentranger, Nicolas Arnold, Winfried Arnold, Fabian Aschwanden, Panagiotis Balermpas, Jörg Beyer, Uwe Bieri, Joost Boormanns, Richard Cathomas, Berardino De Bari, Marco Dressler, Daniel S Engeler, Andreas Erdmann, Andrea Gallina, Silvia Gomez, Matthias Guckenberger, Thomas Herrmann, Thomas Hermanns, Ilaria Lucca, Hubert John, Thomas Matthias Kessler, Jan Klein, Mohamed Laouiti, David Lauffer, Seth Paul Lerner, Agostino Mattei, Michael Müntener, Daniel Nguyen, Philipp Niederberger, Alexandros Papachristofilou, Lukas Prause, Paul Martin Putora, Karsten Reinhardt, Emanuela Salati, Philippe Sèbe, Mohamed Shelan, Silvan Sigg, Räto Thomas Strebel, Arnoud Jan Templeton, Ursula Vogl, Marian Severin Wettstein, Stephen Wyler, Deborah Zihler, Thomas Zilli, Daniel Zwahlen, Beat Roth, Christian Daniel Fankhauser

Faculty, Staff and Students Publications

Introduction: Radical cystectomy or trimodal therapy are treatment options for non-metastatic bladder cancer. However, there is limited evidence guiding post-treatment follow-up regimens, resulting in variations in care.

Objective: A Swiss consensus meeting aimed to identify gaps in follow-up strategies and subsequently tailoring follow-up protocols after curative treatment for bladder cancer.

Methods: A consensus meeting including participants from urology, oncology, radiation oncology, neuro-urology, international advisors, and patient representatives was held. 19 pre-formulated questions addressing follow-up duration, frequency, and modalities after radical cystectomy or trimodal therapy for bladder cancer were discussed and voted by participants.

Results: 42 experts from 22 institutions participated …

Epigenetic Crosstalk In Neuroblastoma Development And Progression, Nathan Drolet, Amber Wolf, Joanna Yi, Eveline Barbieri

Faculty, Staff and Students Publications

Neuroblastoma (NB), a pediatric malignancy of the peripheral nervous system, accounts for 15% of pediatric cancer deaths and remains a major challenge for cancer therapy. NB originates from sympathoadrenal (SA) progenitors of the neural crest (NC) cell lineage, whose formation and differentiation are controlled by epigenetic mechanisms. Although signaling pathways and epigenetic factors implicated in NB tumorigenesis have been well-described, a holistic understanding of how development and epigenetics overlap to drive NB is lacking. By exploring vital interplays and co-dependencies between key pathways and their epigenetic control in NC development, we have gained novel insights into the mechanisms governing NB …

Case Report: Primed Dendritic Cell Immunotherapy For Multiple Solid Tumors, Jeffrey Jones, Aly Alrabaa, William Decker, Luis Ferbeyre, Gregorio Viramontes, Rafael Gonzalez, Elideth Angulo, Antonio Zamudio, Raul Hernandez, Stephen Noga, Susana Hernandez-Reyes, Paul Zhang, Darryl Smith, Ara Karamanian, Luis Tamara, Dalton Greenwood, Matthew Halpert

Faculty, Staff and Students Publications

Many patients with advanced solid tumors ultimately develop resistance to conventional therapies, with especially limited options for those experiencing rapid progression or poor performance status, highlighting the need for personalized immunotherapies capable of inducing durable responses. In this retrospective case series, we describe the clinical course and outcomes of five adults (4 male, 1 female; median age 51 years [range, 39-62]) with metastatic solid tumors who achieved complete and durable remission following doubly loaded autologous dendritic cell therapy after failure of standard treatments, such as immune checkpoint inhibition, radiation, surgery, or endocrine therapy. Five patients, including prostate adenocarcinoma (n=1), malignant …

Metabolites Produced By Agat+ Cells Support Regeneration In The Planarian Schmidtea Mediterranea, Aubrey M Kent, Carlos Guerrero-Hernández, Carolyn Brewster, Sean Mckinney, Jason A Morrison, Mary C Mckinney, Eric J Ross, Frederick G Mann, Blair W Benham-Pyle, Alejandro Sánchez Alvarado

Faculty, Staff and Students Publications

Planarians exhibit extraordinary regenerative abilities driven by pluripotent neoblasts, yet the roles of post-mitotic progenitor and differentiated cells in this process remain incompletely understood. Here, we investigate the function of agat+ cells, epidermal progenitors expressing members of the arginine:glycine amidinotransferase (agat) gene family, in the regeneration of Schmidtea mediterranea. Comprehensive analysis of all five planarian agat paralogs revealed that agat-1, -2, -3, and -4 are co-expressed in subepidermal populations enriched at wound sites, while agat-5 is minimally expressed. RNAi-mediated knockdown of agat-1 and agat-2 resulted in severe defects: agat-1 primarily disrupted tissue homeostasis, …

Inheriting Chromosome Conformation, Kyle P Eagen

Faculty, Staff and Students Publications

No abstract provided.

Concordance Of Fluorescence In Situ Hybridization, Whole-Exome Sequencing, And Chromosomal Microarray For Evaluating High-Risk Molecular Features In Meningiomas, Brenndan Crumley, Emilie Russler-Germain, Sonika Dahiya

2020-Current year OA Pubs

BACKGROUND: Meningiomas are the most common primary intracranial tumors, classified into three WHO grades based on histologic and/or molecular criteria. cIMPACT-NOW Update 8 underscores the increasing importance of molecular testing in grading and risk stratification, noting that morphologically WHO grade 1 tumors with concurrent 1p and 22q losses demonstrate clinical behavior comparable to WHO grade 2 meningiomas. This study aimed to assess the concordance of fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and whole-exome sequencing (WES) in defining the molecular risk profile of meningiomas.

METHODS: A total of 113 meningiomas were analyzed by WHO grade to assess the …

Spatial Variation In Socio-Economic Vulnerability To Influenza-Like Infection For The Us Population, Shrabani S. Tripathy, Joseph V. Puthussery, Taveen S Kapoor, John R. Cirrito, Rajan K. Chakrabarty

2020-Current year OA Pubs

This study aims to quantify environmental health impacts and assess risk by understanding the disproportionate burden of infectious diseases, specifically Influenza-like Illness (ILI), across regions with varying socio-economic characteristics. We introduce a novel vulnerability-based approach to better understand the complex relationship between socio-economic factors and ILI burden. We develop a machine-learning-driven framework to assess and map state-level socio-economic vulnerability to ILI in the United States. A vulnerability index was created by integrating 39 diverse socio-economic and health indicators from the latest CENSUS. A Random Forest Regression model then weighed these indicators to quantify each state's vulnerability for the ILI values …

Capacity And Site Readiness For Hypertension Control Program Implementation In Nigeria: A Nationwide Cross-Sectional Study, Innocent Ijezie Chukwuonye, Mark D. Huffman, Et Al.

2020-Current year OA Pubs

BACKGROUND: The aim of this study is to determine the capacity and readiness of Nigerian primary healthcare facilities to adopt a multi-level approach for the diagnosis, treatment, and control of hypertension.

METHODS: Using a multi-stage sampling technique, 5 states were selected for the nationwide study, and 10 Primary Healthcare Centres (PHCs) were selected from each of the participating states. The 50 PHCs were evaluated using the World Health Organization-modified Service Availability and Readiness Assessment, focusing on the diagnosis and treatment of hypertension in Nigeria. The indicator scores for general and cardiovascular service preparedness were computed using the proportion of PHCs …

Dysregulated Lactate Metabolism Synergizes With Als Genetic Risk Factors To Accelerate Motor Decline, Shweta Tendulkar, Tong Wu, Amy Strickland, Amber R. Hackett, Yurie Sato-Yamada, Xianrong Mao, Yo Sasaki, Jeffrey Milbrandt, A. Joseph Bloom, Aaron Diantonio

2020-Current year OA Pubs

Neurons rely on glial 'lactate shuttling' for metabolic support, which declines with aging and in neurodegenerative disease. Full disruption of lactate shuttling in peripheral nerves causes progressive axon degeneration, but we were interested to understand how partial disruption, a scenario more relevant to aging and disease, contributes to neurodegeneration risk. Pyruvate and lactate are interconverted by lactate dehydrogenases (LDHA and LDHB) in both lactate producing and consuming cells. We therefore began by investigating Ldhb knockout mice (loss of LDHA, the dominant LDH in liver and muscle, caused embryonic lethality), and discovered that they develop progressive neuromuscular junction atrophy and functional …

Implementing The Lung Donor (Lundon) Acceptability Score In U.S. Donor Management And Transplant Decision-Making: A Multi-Aim, Mixed-Methods Protocol, Nikki E. Rossetti, Su-Hsin Chang, Yan Yan, Graham Jaensch-Frie, Charles R. Liu, Nahom Y. Seyoum, Meghna Katta, Arvind Kumar, Zhizhou Yang, Christian Oncken, Christy Hamilton, Kyle Stumbaugh, Brendan Heiden, Sarah Peskoe, Varun Puri, Et Al.

2020-Current year OA Pubs

BACKGROUND: Despite advances in transplantation science, a persistent shortage of donor lungs continues to limit access to life-saving lung transplants. The Lung Donor (LUNDON) Acceptability Score is a validated tool that predicts donor lung utilization and post-transplant recipient outcomes, but integration into practice remains limited. This study will evaluate determinants of LUNDON score adoption, its impact on clinical decision-making, and develop tools to support its implementation.

METHODS: This is a multi-aim mixed-methods pre-implementation study that will be conducted across U.S. Organ Procurement Organizations (OPOs) and lung transplant centers. Aim 1 will identify barriers and facilitators of LUNDON score adoption through …

From Passive To Powerful: Creating Engaging Resident-As-Teacher Modules, Anna E Rueda, Stephanie V Sherman, Sherita J Love, Glenn C Bridges, Wesley A Mayer, Mark J Harbott, Teri L Turner, Bani M Ratan

Faculty and Staff Publications

Background: We aimed to design, implement, and evaluate three novel institutional resident-as-teacher (RAT) e-modules for postgraduate year (PGY) 1, 2, and 3 and compare them to previously utilized online trainings.

Methods: We utilized PICRAT, a model examining both students' relationship with technology (passive, interactive, creative) and instructors' use of technology (replaces, amplifies, or transforms) to create interactive experiences that amplified teaching methodologies. We compared evaluations of the previous and new trainings with an unpaired t test. New modules were assessed with one-way analysis of variance for specialty-based acceptability and content analysis of two open-ended questions.

Results: Response rates averaged 93.2% …

Clinical Informatics Education To Advance Learning Health Systems: A Scoping Review, Alexandra Zingg, L Ida Tovar, Laura Witte, Kelsey L Koym, Kyler Godwin

Library Staff Publications

Introduction: Learning health systems leverage clinical data and knowledge to advance healthcare quality. Effective training in informatics concepts and tools is essential for medical trainees to become health system experts and contributors to positive organizational change. The objective of this study is to summarize characteristics of existing clinical informatics training programs and map these to recommended Learning Health System informatics competencies. We aim to answer the following research questions: (1) How are academic medical institutions implementing informatics education initiatives for medical trainees? (2) Are these initiatives implementing recommended informatics competencies? and (3) How effective are these initiatives according to established …

Polyfluoroalkyl Substances And Altered Glucose Homeostasis In Adolescents Following Bariatric Surgery, Elizabeth Costello, Brittney O Baumert, Zhenjiang Li, Vishal Midya, Shudi Pan, Justin R Ryder, Thomas H Inge, Todd M Jenkins, Stephanie Sisley, Stavra A Xanthakos, Anita Courcoulas, Douglas I Walker, Nikos Stratakis, Damaskini Valvi, Scott M Bartell, Angela L Slitt, Rohit Kohli, Sarah Rock, Michele A La Merrill, Sandrah P Eckel, Max T Aung, Rob Mcconnell, David V Conti, Lida Chatzi

Children’s Nutrition Research Center Staff Publications

Objectives: Bariatric surgery is an effective treatment for severe obesity and associated metabolic comorbidities. Exposure to polyfluoroalkyl substance (PFAS) before bariatric surgery may attenuate improvements in glucose metabolism and explain some of the heterogeneity in post-surgery outcomes.

Design: This is an observational cohort study.

Methods: Adolescents (n = 186) enrolled in the Teen-Longitudinal Assessment of Bariatric Surgery study were included. Eight-PFAS congeners were measured in plasma before surgery. Linear and logistic regressions were used to examine cross-sectional associations between log2-transformed PFAS (ng/mL) and fasting glucose, insulin, hemoglobin A1c (HbA1c), and homeostatic model assessment for insulin resistance (HOMA-IR). Linear mixed …

Alternative Polyadenylation Signatures Distinguish Maladaptive Right Ventricular Remodeling In Pulmonary Hypertension: Implications For Rna-Based Diagnostics And Therapeutics, Janani Subramaniam, Venkata Jonnakuti, Scott D Collum, Sandra Martineau, Kai-Lieh Huang, Sandra Breuils-Bonnet, Andrea L Frump, Bindu H Akkanti, Jayeshkumar A Patel, Manish K Patel, Ismael Salas De Armas, Isabella N Lefebvre, Rajko Radovancevic, Elvin Blanco, Eric J Wagner, Igor Gregoric, Sriram Nathan, Biswajit Kar, Steeve Provencher, Sebastien Bonnet, François Potus, Hari Krishna Yalamanchili, Harry Karmouty-Quintana

Faculty, Staff and Student Publications

Increased pulmonary vascular pressures due to vascular remodeling, elevated vascular resistance, and vasoconstriction characterize Pulmonary Arterial Hypertension (PAH). The narrowing of the pulmonary arteries and obstruction of blood flow increase the Right Ventricular (RV) afterload, forcing the RV to undergo structural and functional changes. While adaptive remodeling leads to RV compensation by maintaining function, maladaptive remodeling leads to RV decompensation, characterized by worsening function and eventual failure. At present, there is no effective treatment for these patients as therapies for left ventricular failure are ineffectual, and there are no therapies specifically targeting the RV. Therefore, there is a clear need …

Test-Retest Apparent Diffusion Coefficient Reproducibility In Head And Neck Cancer Using A 15-T Mr-Linac, Brigid A Mcdonald, Dina El-Habashy, Renjie He, Sam Mulder, Sarah Mirbahaeddin, Abdallah S R Mohamed, Sara Ahmed, Yao Ding, Jihong Wang, Stephen Y Lai, Alex Dresner, John Christodouleas, Clifton D Fuller

Faculty, Staff and Student Publications

Purpose

To evaluate the reproducibility of apparent diffusion coefficient (ADC) measurements in head and neck squamous cell carcinoma (HNSCC) using a 1.5-T MR-linac (MRI-guided linear accelerator) system.

Materials and Methods

In this retrospective study, conducted between February 2021 and January 2024, patients with HNSCC lesions underwent echo-planar imaging diffusion-weighted MRI on a 1.5-T MR-linac system at two time points before the start of radiation therapy. Mean and median ADC values and volumes were measured for each lesion. Absolute and percent reproducibility coefficients (RCs) were calculated. Linear regression analyses and F tests were performed to determine whether the lesion volume or …

Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group

Duncan NRI Faculty and Staff Publications

Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.

Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.

Results: Between …

Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe

Duncan NRI Faculty and Staff Publications

Dystonia is a complex neurological disorder characterized by sustained or intermittent abnormal movements and/or postures. However, dystonia's non-motor symptoms, particularly the sleep disturbances, are critical yet underexplored concerns that affect all ages. Here, we synthesize current knowledge on the motor and non-motor domains of dystonia, emphasizing the functional interconnections and plasticity within cerebellar motor, cognitive, and sleep-associated circuits to motivate more comprehensive and effective treatments that improve overall quality of life.

Organ Chips And Translational Research: Identifying And Examining New Ethical Issues, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

Organ chips, also known as organ-on-a-chip devices, tissue chips, or microphysiological systems, have emerged over the last decade as a promising translational technology amidst growing concern about the translational crisis between laboratory research and patient bedside. Pointing to high rates of failure between nonhuman animal models and safety and efficacy in humans, organ chips and similar new approach methods have attracted substantial public and private investment. As human-cell-based alternatives to animal models, organ chips promise more predictive, efficient, and ethical platforms for pharmaceutical and toxicity testing. Engineered cultivation systems that enable cells to assemble into tissue-like structures (e.g. kidney, brain, …

Putting The L In Elsi: Legal Methods For Bioethics Research, Anya E R Prince, Benjamin Berkman, Donald Ford, Dov Fox, Christi Guerrini, Amy Koopmann, Natalie Ram, Jessica L Roberts, Kayte Spector-Bagdady, Sonia Suter

Center for Medical Ethics and Health Policy Staff Publications

Lawyers and law professors are increasingly involved in interdisciplinary scientific teams and grant research to answer ethical, legal and policy questions related to biomedical topics. Yet, the methods that lawyers use to conduct legal research and analysis are not always familiar to scientists and social scientists conducting peer review of a proposed project with legal aims or a publication reporting a legal study. To better facilitate interdisciplinary ethical, legal, and social implications collaboration, there is a need to better explain how legal research methodologies can provide robust tools to address a range of nuanced biomedical questions. This paper explores …