Medicine and Health Sciences Commons^™

Genome Sequencing Reveals The Impact Of Pseudoexons In Rare Genetic Disease, Georgia Pitsava, Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos, Miguel Almalvez, Ingrid Chen, Kaylee Scozzaro, Jianhua Zhao, Rebekah Barrick, Nicholas Ah Mew, Vincent A Fusaro, Jonathan Lotempio, Matthew Taylor, Luisa Mestroni, Sharon Graw, Dianna Milewicz, Dongchuan Guo, David R Murdock, Kinga M Bujakowska, Changrui Xiao, Emmanuèle C Délot, Seth I Berger, Eric Vilain

Faculty, Staff and Student Publications

Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing; yet, the diagnostic yield remains around 30% to 40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.

Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing. Two other collaborative research cohorts, focused on aortopathy and dilated cardiomyopathy, consisted of individuals who were undiagnosed but had not undergone harmonized prior testing.

Results: We sequenced 353 families (754 participants) and found a molecular diagnosis in 54 (15.3%) …

Restricting Metabolic Plasticity Enhances Stress Adaptation Through The Modulation Of Pdh And Hif1a In Trap1-Depleted Colon Cancer, Hong-Yuan Tsai, Miao-Hsueh Chen, Jihye Yun, Lisa A Lai, John F Valentine, Mary P Bronner, Teresa A Brentnall, Sheng Pan, Ru Chen

Faculty, Staff and Student Publications

Metabolic plasticity allows cancer cells to survive under adverse conditions. To investigate the role of mitochondrial chaperone tumor necrosis factor receptor-associated protein 1 (TRAP1) in this process, we used CRISPR/Cas9 mediated genetic deletion to knock out (KO) TRAP1 in colon cancer cells. Depletion of TRAP1 triggered a series of events: induced metabolic reprogramming, increased glycolytic flux, downregulation of mitochondrial complex I, and elevated ROS generation. TRAP1-deficient cells showed tolerance to Oxidative Phosphorylation (OXPHOS) inhibitors and exhibited a higher extracellular acidification rate (ECAR). Additionally, TRAP1 depletion activated hypoxia response elements (HREs) and upregulated HIF1A target genes such as GLUT1 and MCT1. …

Risk Score Roulette: A Cautionary Tale Of Polygenic Risk Score Reliability, Diane Xue, Elizabeth E Blue, Alexis C Wood, Jerome I Rotter, Alison E Fohner

Children’s Nutrition Research Center Staff Publications

Genetic risk prediction for Alzheimer's disease (AD) has high potential impact, yet few studies have assessed the reliability of various polygenic risk score (PRS) methods at the individual level. Here, we evaluated the reliability of AD PRS estimates among 6338 participants from the Multi-Ethnic Study of Atherosclerosis. We compared four PRS models that have been previously associated with dementia risk. Despite similar population-level performance metrics, inter-model reliability of individual-level risk assessment was low, even among individuals classified in the top and bottom deciles. These findings raise serious concerns about the downstream application of PRS for guiding interventions for AD.

Comparison Of Metal Nanoparticles As Antifungal Agents: Efficacy, Mechanisms, And Toxicity Against Candida, Aspergillus, And Cryptococcus, Ahmed Falah Imran, Hayder Hameed Saeed, Khaldoon Jasim Mohammed

AUIQ Complementary Biological System

Candida albicans, Aspergillus fumigatus, and Cryptococcus neoformans are the invasive fungi whose diseases are becoming a growing health issue in the global community, particularly in immunocompromised people. The increasing resistance of the conventional antifungals and the shortage of the existing treatment methods require alternative methods. The present review is an evaluation of the antifungal activity of metal-based nanoparticles, including silver (Ag), copper (Cu), zinc oxide (ZnO), titanium dioxide (TiO₂), and selenium (Se) in relation to the three predominant pathogenic fungi. It also talks about their mode of action, relative efficacy, toxicity and their possible future clinical …

Upper Respiratory Tract Infection Leading To A New Diagnosis Of Sweet Syndrome And Monoclonal Gammopathy Of Unknown Significance, Nidhi Rawat, Meron Gebrehiwot, Jason Raw, Jeyaprakash Ramachandran

HCA Healthcare Journal of Medicine

Background

We present a rare case of Sweet syndrome with underlying monoclonal gammopathy of unknown significance (MGUS) which initially presented as upper respiratory tract infection.

Case Presentation

A 52-year-old woman presented with a complaint of sore throat for 6 days, productive cough and fever for 5 days, and red, pruritic, circular, tender rashes on face, arms and trunk for 2 days. There was a past history of similar self-limiting rashes presenting intermittently for 1.5 years. She also reported to be taking tablet ibuprofen, as required for the past 1-2 years, for cervical spondylosis. On integumentary examination, widespread, red, tender, annular …

Safety And Efficacy Of Liver-Directed Radiotherapy After Chemoimmunotherapy For Advanced Cholangiocarcinoma: An Early Report From A Large Tertiary Cancer Center, Abdulmoiz Asif, Abdulmoid Asif, Michael K Rooney, Enoch Chang, Felicity Namayanja, Kimana Quentin, Sunyoung Lee, Ian Hu, Vincent Bernard, Prajnan Das, Emma B Holiday, Sonal Noticewala, Grace L Smith, Albert C Koong, Ethan B Ludmir, Milind Javle, Lianchun Xiao, Eugene J Koay

Faculty, Staff and Student Publications

BACKGROUND: Recent randomized controlled trials have established chemoimmunotherapy as the standard of care for patients with advanced biliary cancers with a median overall survival (OS) of about thirteen months. No data exist to demonstrate the safety and efficacy of liver-directed radiotherapy (RT) for extrahepatic and intrahepatic cholangiocarcinoma (CCA) in the era of chemoimmunotherapy. The purpose of this study is to report our early experience treating patients with CCA using RT and chemoimmunotherapy.

METHODS: Twenty-eight patients with CCA who received chemoimmunotherapy sequentially and/or concurrently with RT were retrospectively analyzed. The median biologic equivalent dose (BED) of RT was 84.0 [interquartile range …

Understanding Tobacco Use Among Bangladeshi Men: A Socio-Demographic Analysis Of Risk Factors, Md. Rashedus Salekin Sabbir, Helal Uddin, Md Shazid Hossain Shohan

Indonesian Journal of Public Health Nutrition (IJPHN)

Tobacco consumption remains a major public health concern in Bangladesh, where adult males represent the most affected group. Despite existing bans on public smoking, cultural norms, media influence, and limited awareness continue to sustain high prevalence. The objective of this study was to examine the socio-demographic determinants of tobacco use among Bangladeshi men, focusing on regional variation, education, media exposure, and family influence. A cross-sectional survey was conducted among 275 adult males in Dhaka Division using a structured questionnaire. Data was analyzed through descriptive statistics, chi-square tests, and binary logistic regression to identify significant predictors of tobacco consumption. Findings reveal …

Proportion Of Chronic Energy Deficiency In Relation To Macronutrient Intake And Other Determinants Among Pregnant Women In Selected Community Health Center Service Areas In Bogor 2025, Fathimah Afliansa, Ratu Ayu Dewi Sartika, Diah Mulyawati Utari, Suparno Suparno

Indonesian Journal of Public Health Nutrition (IJPHN)

The prevalence of chronic energy deficiency (CED) among pregnant women in Indonesia remains relatively high, ranging from 11.6% to 57.6%. This study aimed to examine the differences in the proportion of CED based on macronutrient intake and related factors. The study used a quantitative cross-sectional design with secondary data involving 124 pregnant women in selected areas served by community health centers in Bogor City and Regency. Data were analyzed using the chi-square test. CED prevalence was 11.3% in the overall areas, with 10.9% in Bogor City and 11.7% in Bogor Regency. Significant differences in the CED proportion were found based …

The Relationship Between Anemia, Chronic Energy Deficiency, Knowledge, And Other Factors And Anc Attendance Among Pregnant Women In Bogor City And Regency 2025, Winfried Ichtussend Hartnajaya Chrisna, Ratu Ayu Dewi Sartika, Nurul Dina Rahmawati, Daden Setiawan

Indonesian Journal of Public Health Nutrition (IJPHN)

Antenatal Care (ANC) is a comprehensive health service to optimize pregnancy outcomes. In 2023 in Bogor City, the ANC K6 coverage rate has reached the target (98.63%), but this is not the case with the coverage in Bogor Regency (62.25%). ANC visits that do not reach the standard can be influenced by predisposing factors, supporting factors, and health needs factors. The inequality that occurs can hinder efforts to reduce maternal mortality. This study aims to determine the relationship between knowledge and other factors with ANC visits in Bogor City and Regency in 2025. This study is quantitative with a cross-sectional …

Determinants Of Abdominal Obesity In Adults (19 – 44 Years Old) In Riau Islands Province (Analysis Of Ski 2023 Data), Hanifah Mulia Rachman, Triyanti Triyanti, Ratu Ayu Dewi Sartika, Kusharisupeni Djokosujono

Indonesian Journal of Public Health Nutrition (IJPHN)

Abdominal obesity is a condition characterized by excessive fat accumulation in the abdominal region, which can increases the risk of type 2 diabetes mellitus, dyslipidemia, hypertension, and cardiovascular diseases. In 2023, Riau Islands Province recorded the highest prevalence of abdominal obesity in the island of Sumatra, at 42.5%. This study aimed to analyze the determinants of abdominal obesity among adults aged 19–44 years in Riau Islands Province based on gender, using secondary data from the 2023 Indonesia Health Survey (SKI). A total of 3,466 respondents were analyzed using chi-square tests and multiple logistic regression. The results showed that the prevalence …

Perceived Benefits And Side Effect Of High-Fiber, High-Protein Meal Replacements In Weight Loss Programs, Esti Nurwanti, Harry Fl Muhammad, Naufal M. Nurdin

Indonesian Journal of Public Health Nutrition (IJPHN)

Obesity is a major risk factor for chronic diseases and early mortality. Although dietary counseling is essential in managing obesity, maintaining a calorie deficit and preventing weight regain remain difficult. Functional foods like high-protein, high-fiber meal replacements may enhance adherence and support weight loss. This randomized controlled trial evaluated the subjective outcomes of a weight loss program incorporating a protein- and fiber-enriched meal replacement among 73 overweight women aged 20–30 years. Participants were randomized to an intervention group (n=38), receiving dietary counseling plus one daily meal replacement, or a control group (n=35), receiving counseling alone. Both groups followed an 8-week …

Analysis Of Macronutrient Content, Antioxidant Activity, And Organoleptic Quality Of Snack From Jackfruit Seed Flour (Artocarpus Heterophyllus) And Pigeon Pea Flour (Cajanus Cajanus) As A Snack For Patients With Type 2 Diabetes Mellitus, Maya Siwi Tri Nugroho Heni, Tesa Rafkhani

Indonesian Journal of Public Health Nutrition (IJPHN)

Type 2 diabetes mellitus characterized by chronic hyperglycemia and oxidative stress. Snack bars with functional ingredients such as legumes may help regulate blood glucose levels. Jackfruit seeds and pigeon peas are sources of protein, complex carbohydrates, and bioactive compounds. This study aimed to analyze macronutrient content, antioxidant activity, and organoleptic quality of jackfruit seeds and pigeon pea flour snack bars. This study used a completely randomized design (CRD) one factor with two replications. The proportions of jackfruit seeds and pigeon pea flour are: F1 (30%:70%), F2 (40%:60%), F3 (50%:50%). Macronutrient content was analyzed using proximate analysis, antioxidant activity using the …

Runx2 Cooperates With Srebp1 To Rewire Cancer Metabolism And Promote Aggressiveness, Emanuele Vitale, Mila Gugnoni, Veronica Manicardi, Silvia Muccioli, Federica Torricelli, Benedetta Donati, Simonetta Piana, Gloria Manzotti, Elisa Salviato, Francesca Reggiani, Cristian Ascione, Rebecca Vezzani, Moira Ragazzi, Mattia Forcato, Oriana Romano, Silvio Bicciato, Aaron Goldman, Marco Tigano, Alessia Ciarrocchi

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Embryonic Transcription Factors (TFs) are often reactivated in cancer, driving developmental gene programs that support phenotypic plasticity. Metabolic adaptation fuels this plasticity by supplying energy and molecular building blocks for growth. RUNX2, the master regulator of bone morphogenesis, is ectopically expressed in epithelial cancer, promoting metastasis through trans-differentiation processes like Epithelial-to-Mesenchymal Transition (EMT) and osteomimicry. By combining omics data with functional validation, we demonstrated that RUNX2 drives cancer cell metabolic rewiring by repressing mitochondrial respiration while promoting anabolic processes. We showed that RUNX2 upregulates key genes of lipid biosynthesis by regulating and cooperating with SREBP1. In vivo expression analysis in …

The Key To Acquiring The Language Of Law, Science, And Technology In The Esl College Classroom, Patricia George-Hunter

Journal of English Learner Education

Since vocabulary plays a significant role in second language acquisition, expansive vocabulary targets should be set and pursued. This paper explores the results of introducing affixes to develop vocabulary and increase motivation for beginner to intermediate-level English language learners (ELLs) pursuing academic disciplines in law, science, and technology at a New York City community college. Participants included 23 ELLs with diverse linguistic, educational, and sociocultural backgrounds enrolled in an online synchronous Integrative Language Seminar (ILS) designed to develop all areas of English language proficiency. Pre‑, post‑, delayed tests, questionnaires, and post‑intervention interviews were conducted and analyzed to establish the language …

Exploring Stem Cell Therapies For Chronic Diseases, Ashley Thompson

Trick to the Treat of Internships and Research

No abstract provided.

Research Assistant At The University Of Minnesota Advanced Research And Diagnostics Laboratory, Vishnu Vundamati

Trick to the Treat of Internships and Research

No abstract provided.

Biol 3400 Microbiology/Lab (Tiny Earth) With Dr. Garcia, Noura Naami

Trick to the Treat of Internships and Research

No abstract provided.

Mentored Structural Biology Of Human Pathogens (Msbio-Path) Summer Program, Harani Athwale

Trick to the Treat of Internships and Research

No abstract provided.

Biol 1000/1001 Introduction To Biology Research I/Ii (Sea Phages), George Vasilakis

Trick to the Treat of Internships and Research

No abstract provided.

Radiofrequency Ablation Research At Worcester Polytechnic Institute, Maanya Chitrapu

Trick to the Treat of Internships and Research

No abstract provided.

Student Athletes Abroad - Pre-Health Costa Rica, Bridget Mcgrath

Trick to the Treat of Internships and Research

No abstract provided.

Science Alive - Stem Education Outreach, Brianna Bourke, Maggie Luo, Amaan Khan

Trick to the Treat of Internships and Research

No abstract provided.

Md Anderson University Outreach, Sanjana Ananthula, Tulsi Desai

Trick to the Treat of Internships and Research

No abstract provided.

Summer 2025 Surgical Internship At The Medical University Of Graz, Caroline Rodriguez Chang, Rochelle Avezki, Irene Murathe

Trick to the Treat of Internships and Research

No abstract provided.

Discover Eden Ecology Internship, South Africa, Daphne De Sedas, Gabriella Flora, Reagan Spahr

Trick to the Treat of Internships and Research

No abstract provided.

Analyzing The Implications Of Artificial Intelligence (Ai) For Active Learning And Assessment Globally In Healthcare And Stem, Vinay Munlapudi, Santanu De

Trick to the Treat of Internships and Research

No abstract provided.

Optometric Internship For Biol4950: Eyes On Southern, Ella Weinlick

Trick to the Treat of Internships and Research

No abstract provided.

Understanding The Effects Of Real-Time Head Position Feedback On Postural Sway In Terms Of Changes In Underlying Deterministic And Stochastic Dynamical Processes, Steven J. Harrison, Benjamin De Bari, Ryan Poutre, Jeffrey M. Kinsella-Shaw

College of Humanities and Sciences Faculty Papers

Our perceptual systems detect information about how our body is moving relative to the surrounding environment. Such information is essential to our ability to maintain upright standing balance. Real-time postural feedback systems are technologies that appear to enhance our ability to detect information about the movements of our body, and as a consequence improve our capacity to control the posture of our body. Here we examine a system in which real-time measurements of head position were "felt" as changes in the intensity of vibration of tactors in a headband. Using this system, participants were able to stabilize their body posture, …

Erratum To <[Transplant Cell Ther 2023 Jul;29(7):438e1-438e16 Epub 2023 Mar 9]>, Melissa R Hines, Tristan E Knight, Kevin O Mcnerney, Mark B Leick, Tania Jain, Sairah Ahmed, Matthew J Frigault, Joshua A Hill, Michael D Jain, William T Johnson, Yi Lin, Kris M Mahadeo, Gabriela M Maron, Rebecca A Marsh, Sattva S Neelapu, Sarah Nikiforow, Amanda K Ombrello, Nirav N Shah, Aimee C Talleur, David Turicek, Anant Vatsayan, Sandy W Wong, Marcela V Maus, Krishna V Komanduri, Nancy Berliner, Jan-Inge Henter, Miguel-Angel Perales, Noelle V Frey, David T Teachey, Matthew J Frank, Nirali N Shah

Faculty, Staff and Student Publications

No abstract provided.

Final Analysis Of The Resonate-2 Study: Up To 10 Years Of Follow-Up Of First-Line Ibrutinib Treatment For Cll/Sll, Jan A Burger, Paul M Barr, Tadeusz Robak, Carolyn Owen, Alessandra Tedeschi, Anita Sarma, Piers E M Patten, Sebastian Grosicki, Helen Mccarthy, Fritz Offner, Edith Szafer-Glusman, Cathy Zhou, Anita Szoke, Lynne Neumayr, James P Dean, Paolo Ghia, Thomas J Kipps

Faculty, Staff and Student Publications

With up to 10 years of follow-up, we report results from the final analysis of RESONATE- 2, a phase 3 study of first-line ibrutinib vs chlorambucil for the treatment of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). Patients aged ≥65 years with previously untreated CLL/SLL without del(17p) were randomly assigned to receive either single-agent ibrutinib (420 mg/d; n = 136) or chlorambucil (0.5-0.8 mg/kg; ≤12 cycles; n = 133). With a median follow-up of 9.6 years in the ibrutinib arm, the median progression-free survival (PFS) was 8.9 years (95% confidence interval [CI], 7.0 to not estimable [NE]) vs 1.3 years (95% …