Medicine and Health Sciences Commons^™

Effect Of Nano2, A Donor Of Nitric Oxide, On Glucose Mediated Oxidative Stress In Pancreaticb-Cells, Kazi Nazrul Islam, Rahib K. Islam, Mohammod B. Rashid, Branson Smith, Safa K. Islam

School of Medicine Faculty Publications

Annual Meeting of the Endocrine Society, ENDO 2024, June 1 - 4, 2024, Boston, MA

Multiregional Transcriptomic Profiling Provides Improved Prognostic Insight In Localized Non-Small Cell Lung Cancer, Chenyang Li, Thinh T Nguyen, Jian-Rong Li, Xingzhi Song, Junya Fujimoto, Latasha Little, Curtis Gumb, Chi-Wan B Chow, Ignacio I Wistuba, Andrew P Futreal, Jianhua Zhang, Shawna M Hubert, John V Heymach, Jia Wu, Christopher I Amos, Jianjun Zhang, Chao Cheng

Faculty, Staff and Student Publications

Lung Cancer remains the leading cause of cancer deaths in the USA and worldwide. Non-small cell lung cancer (NSCLC) harbors high transcriptomic intratumor heterogeneity (RNA-ITH) that limits the reproducibility of expression-based prognostic models. In this study, we used multiregional RNA-seq data (880 tumor samples from 350 individuals) from both public (TRACERx) and internal (MDAMPLC) cohorts to investigate the effect of RNA-ITH on prognosis in localized NSCLC at the gene, signature, and tumor microenvironment levels. At the gene level, the maximal expression of hazardous genes (expression negatively associated with survival) but the minimal expression of protective genes (expression positively associated with …

Multi-Ancestry Gwas Meta-Analyses Of Lung Cancer Reveal Susceptibility Loci And Elucidate Smoking-Independent Genetic Risk, Bryan R Gorman, Sun-Gou Ji, Michael Francis, Anoop K Sendamarai, Yunling Shi, Poornima Devineni, Uma Saxena, Elizabeth Partan, Andrea K Devito, Jinyoung Byun, Younghun Han, Xiangjun Xiao, Don D Sin, Wim Timens, Jennifer Moser, Sumitra Muralidhar, Rachel Ramoni, Rayjean J Hung, James D Mckay, Yohan Bossé, Ryan Sun, Christopher I Amos, Va Million Veteran Program, Saiju Pyarajan

Faculty, Staff and Student Publications

Lung cancer remains the leading cause of cancer mortality, despite declining smoking rates. Previous lung cancer GWAS have identified numerous loci, but separating the genetic risks of lung cancer and smoking behavioral susceptibility remains challenging. Here, we perform multi-ancestry GWAS meta-analyses of lung cancer using the Million Veteran Program cohort (approximately 95% male cases) and a previous study of European-ancestry individuals, jointly comprising 42,102 cases and 181,270 controls, followed by replication in an independent cohort of 19,404 cases and 17,378 controls. We then carry out conditional meta-analyses on cigarettes per day and identify two novel, replicated loci, including the 19p13.11 …

Oral Manifestations Of The Dengue Virus, Griffin S. Eisele, Roman E. Brown Bs, Kristi Soileau Dds, Med, Mshce, Facd, Ficd

New Orleans Dental Association News

Dengue Fever, caused by the DENV virus, is a growing health concern, especially in arid regions. The disease presents oral symptoms that dentists must recognize for timely diagnosis. Dental professionals should exercise caution during surgical procedures due to potential hemorrhagic complications. Early identification and management of oral manifestations can prevent severe outcomes.

Two Lives, Shruti Trehan Mbbs

Journal of Wellness

A busy oncologist makes a decision to leave her busy, thriving, community practice in the Mid-West and moves to a Veterans Affairs hospital in South Florida in the quest for a better work-life balance.

Penicillin Susceptibility Among Staphylococcus Aureus Skin And Soft Tissue Infections At A Children’S Hospital, J Chase Mcneil, Lauren M Sommer, Marritta Joseph, Kristina G Hulten, Sheldon L Kaplan

Faculty, Staff and Students Publications

Shortly after its introduction into clinical practice, Staphylococcus aureus isolates gained resistance to penicillin via the acquisition of β-lactamases. A number of centers have recently described an increase in the proportion of invasive methicillin-susceptible S. aureus (MSSA), which are also susceptible to penicillin (PSSA). Little data are available regarding the prevalence or impact of PSSA in skin and soft tissue infections (SSTI). Community-acquired MSSA SSTI isolates were obtained through a surveillance study at Texas Children’s Hospital from January 2017 to December 2021. A total of 200 random isolates underwent PCR for blaZ β-lactamase; blaZ-negative isolates then underwent penicillin susceptibility …

Evaluation Of The Clinical Performance Of A Multistep Algorithm For The Diagnosis Of Clostridioides Difficile Infection And Patient Characteristics In A Clinical Setting, Mayuree Khantipong, Ajcharaporn Sawatpanich, Kanphai Wongjarit, Somying Tumwasorn, Pattama Torvorapanit, Suwatchareeporn Rotcheewaphan Dr.

Chulalongkorn Medical Journal

Background: Clostridioides difficile infection (CDI) is a significant cause of antibiotic-associated diarrhea and colitis. The diagnosis of CDI relies on clinical presentations confirmed by laboratory investigations.

Objectives: This study aimed to evaluate the performance of current diagnostic tests and examine the characteristics of patients associated with CDI in a real hospital setting.

Methods: A total of 299 unformed stool specimens were collected and analyzed using the C. DIFF QUIK CHEK COMPLETE and PCR assays. Patient data were retrospectively reviewed from medical records.

Results: The C. DIFF QUIK CHEK COMPLETE and PCR assays detected toxigenic C. difficile …

Impact Of Covid-19 Pandemic On Emergency Department Visits For Opioid Use Disorder Across University Of California Health Centers, Matthew Heshmatipour, Ding Quan Ng, Emily Yi-Wen Truong, Jianwei Zheng, Alexandre Chan, Yun Wang

Pharmacy Faculty Articles and Research

Introduction: Coronavirus 2019 (COVID-19) has had a devastating impact on mental health and access to addiction treatment in the United States, including in California, which resulted in the highest rates of emergency department visits (ED) for opioid poisoning in 2020. As California slowly returns to pre-pandemic normalcy, it remains uncertain whether the rates of opioid-related events have slowed down over time. We hypothesized that the number of opioid-related ED visits were exacerbated after the period of the COVID-19 pandemic and continue at a high rate in the present.

Methods: In this analysis we searched the University of California (UC) Health …

Health Literacy And Cumulative Social Disadvantage Are Associated With Survival And Transplant In Patients With Hepatocellular Carcinoma: A Prospective Study, Lauren D Nephew, Susan M Rawl, Allie Carter, Nicole Garcia, Patrick O Monahan, John Holden, Marwan Ghabril, Eleazar Montalvan-Sanchez, Kavish Patidar, Archita P Desai, Eric Orman, Naga Chalasani

Faculty, Staff and Students Publications

OBJECTIVE: To investigate how individual social determinants of health (SDOH) and cumulative social disadvantage (CSD) affect survival and receipt of liver transplant (LT) in patients with hepatocellular carcinoma (HCC).

METHODS: We enrolled 139 adult patients from two Indianapolis hospital systems between June 2019 and April 2022. Structured questionnaires collected SDOH and social risk factor data. We compared SDOH and CSD by race, gender and disease aetiology, assigning one point per adverse SDOH. Multivariable competing risk survival analysis assessed associations between SDOH, CSD, survival and LT receipt.

RESULTS: Black patients experienced higher CSD than white patients in the cohort (5.4±2.5 vs …

A Rare Case Of Metachronous Gastric Lymphoma And Gastric Adenocarcinoma, Rofinna Johnkennedy Md, Mph, Cheng-Hung Tai, Alexa Plato Md, Department Of Medicine,, Caroline Loeser

Posters

Reports of metachronous primary gastric lymphoma and gastric adenocarcinoma exist in the literature, but it remains a rare entity. We present a rare case of metachronous gastric adenocarcinoma in a patient diagnosed initially with primary gastric lymphoma.

Spot Form Net Blotch And Its Management In Barley, Department Of Primary Industries And Regional Development, Western Australia

Grains and other field crops factsheets

Spot form net blotch (SFNB) has become increasingly more common in Western Australia (WA) due to the widespread cultivation of susceptible varieties, such as Spartacus CL and RGT Planet.

These crops generate large amounts of inoculum, which is carried between seasons on infected stubble. Crops grown onto or located close to infected stubble are at greatest risk of infection. The disease can be effectively managed using a combination of varietal selection, crop rotation, and fungicides.

Ophidiomyces Ophidiicola And Texas Snakes: A Field To Bench Study Of Ophidiomycosis, Kenlynn L. Volz

Biology Theses

Ophidiomyces ophidiicola (Oo), the primary cause of Ophidiomycosis, is a fungal pathogen recently detected in Texas snakes. Prior to this study, there were major knowledge gaps regarding Oo growth, spread, and suitable environmental conditions. This study filled those gaps using a field to bench approach involving sampling snakes across Texas, in vitro fungal growth, and ecological niche modeling. 103 snakes were sampled across Texas in 2023 and 2024 and six cases of Oo infection were detected. Results of the growth experiment suggest that Oo prefers more stable temperatures and high humidity to a point and that there is a …

Forecasting The Effects Of Smoking Prevalence Scenarios On Years Of Life Lost And Life Expectancy From 2022 To 2050: A Systematic Analysis For The Global Burden Of Disease Study 2021, Gbd 2021 Tobacco Forecasting Collaborators

Ateneo School of Government Publications

Background

Smoking is the leading behavioural risk factor for mortality globally, accounting for more than 175 million deaths and nearly 4·30 billion years of life lost (YLLs) from 1990 to 2021. The pace of decline in smoking prevalence has slowed in recent years for many countries, and although strategies have recently been proposed to achieve tobacco-free generations, none have been implemented to date. Assessing what could happen if current trends in smoking prevalence persist, and what could happen if additional smoking prevalence reductions occur, is important for communicating the effect of potential smoking policies.

Methods

In this analysis, we use …

Two- Versus One-Bag Fluid Delivery In Pediatric And Adolescent Diabetic Ketoacidosis: A Systematic Review And Meta-Analysis, Maya Nasser, Joseph Nasr, Reem Zalloum, Nathanael Yap, Natalie Bourdakos, Shahid Miangul, Tara Betts, Hayato Nakanishi, Christian Than, Serge Jabbour

Division of Endocrinology, Diabetes and Metabolic Diseases Faculty Papers

Two rehydration protocols currently exist to treat diabetic ketoacidosis (DKA) in pediatric patients aged"one-bag" system and the more recent "two-bag" system. This study aimed to evaluate the safety and efficacy of the newer two-bag system versus the well-established one-bag system. The CiNAHL, Cochrane Library, Embase, PubMed, Scopus, and Web of Science databases were comprehensively searched from inception to June 2023 by 2 independent reviewers using the Preferred Reporting Items for Systematic Reviews and Meta-analysis framework. Eligible studies were those that reported participants(CRD42023427551). From the initial screening of 42 studies, 8 unique studies encompassing 583 patients met the eligibility criteria. The …

Biological Evaluation Of Anti-Cancer Activities Of Novel Small-Molecule Tubulin Polymerization Inhibitors In Prostate And Pancreatic Cancer, Rui Wang

Alternative Theses and Dissertations (AETDs)

Colchicine binding site inhibitors (CBSIs) are an emerging class of microtubule-targeting agents (MTAs) with promising potential for cancer therapy. Traditional MTAs like paclitaxel, docetaxel, and Cabazitaxel, are three FDA-approved taxanes for treating various cancers. Acquired chemoresistance and toxicities caused by chemotherapy are some of the main barriers that limit their clinical outcomes. More effective novel agents and therapeutic strategies are needed to overcome these challenges. Tremendous efforts have been made in discovering novel CBSIs and evaluating many cancer types, reporting their promising potential to treat both primary, resistant, and metastatic cancers including breast cancer, ovarian cancer, lung cancer, and melanoma. …

Employing Multi-Omics Analyses To Understand Changes During Kidney Development In Perinatal Interleukin-6 Animal Model, Ganesh Panzade, Tarak Srivastava, Daniel P. Heruth, Mohammad H. Rezaiekhaligh, Jianping Zhou, Zhen Lyu, Mukut Sharma, Trupti Joshi

Biomedical Sciences

Chronic kidney disease (CKD) is a leading cause of morbidity and mortality globally. Maternal obesity during pregnancy is linked to systemic inflammation and elevated levels of the proinflammatory cytokine interleukin-6 (IL-6). In our previous work, we demonstrated that increased maternal IL-6 during gestation impacts intrauterine development in mice. We hypothesized that IL-6-induced inflammation alters gene expression in the developing fetus. To test this, pregnant mice were administered IL-6 or saline during mid-gestation. Newborn mouse kidneys were analyzed using mRNA-seq, miRNA-seq and whole-genome bisulfite-seq (WGBS). A multi-omics approach was employed to quantify mRNA gene expression, miRNA expression and DNA methylation, using …

Soprano: Macitentan In Patients With Pulmonary Hypertension Following Left Ventricular Assist Device Implantation, Robert P. Frantz, Shashank S. Desai, Gregory Ewald, Veronica Franco, Antoine Hage, Evelyn M. Horn, Shane J. Larue, Michael A. Mathier, Stacy Mandras, Myung H. Park, Ashwin K. Ravichandran, Joel D. Schilling, I-Wen Wang, Ronald Zolty, Gabriela Gomez Rendon, Mark A. Rocco, Mona Selej, Carol Zhao, J. Eduardo Rame

Jefferson Hospital Staff Papers and Presentations

Macitentan is a dual endothelin receptor antagonist (ERA) approved for treating pulmonary arterial hypertension (PAH). SOPRANO evaluated the efficacy and safety of macitentan versus placebo in pulmonary hypertension (PH) patients after left ventricular assist device (LVAD) implantation. SOPRANO was a phase 2, multicenter, double-blind, randomized, placebo-controlled, parallel-group study. Patients with an LVAD implanted within the prior 90 days who had persistent PH (i.e., mean pulmonary arterial pressure ≥25 mmHg, pulmonary artery wedge pressure [PAWP] ≤18 mmHg, and pulmonary vascular resistance [PVR] >3 Wood units [WU]) were randomized (1:1) to macitentan 10 mg or placebo once daily for 12 weeks. The …

Who Is Treating Periprosthetic Femur Fractures? An Analysis Of The Periprosthetic Research Consortium, Nicholas Pohl, Arjun Saxena, Jeffrey Stambough, John Martin, Simon Mears, Paul Lichstein, Eric Jordan, Cameron Egan, Antonia Chen, Greg Erens, Samir Chabib, Bryce Wall, Navin Fernando, Jordan Nichols, Ran Schwarzkopf, Katherine Lygrisse, Derek Amanatullah, Prerna Arora, David Ivanov, Galvin Loughran, James Browne, Danielle Hogarth, Parke Hudson, Thomas Donaldson, Frank Buttacavoli, Ravi Kari, Galen Mills

Rothman Institute Papers

Background: Periprosthetic femur fractures (PPFFs) following total hip arthroplasty (THA) have increased in the past decade as the demand for primary surgery continues to grow. Although there is now more evidence to describe the treatment of Vancouver B fractures, there is still limited knowledge regarding factors that cause surgeons to perform either an open reduction and internal fixation (ORIF) or revision THA (rTHA). The purpose of this study was to determine what type of surgeons treat Vancouver B PPFFs at 11 major academic institutions and if there are trends in treatment decision-making regarding the use of ORIF or rTHA based …

Effects Of Educational Intervention On Asthmatic Children, Zoe Coggins

Nursing | Student Research Posters

Abstract

Children are more vulnerable to asthmatic symptoms due to the physiological immaturity of their respiratory systems. Therefore, irritants are deemed more hazardous for the pediatric population. Pollution is a growing health concern, and within the literature review, several approaches to the measurement of the impact of low air quality and educational interventions are discussed. The themes identified in the literature review are increased risk of pollution-induced exacerbation due to age, behavior, and residential proximity to emission-producing facilities. The review of the literature demonstrated how pollution is a growing public health concern, especially among the pediatric population. Interventions, reviewed in …

Sex Differences In The Association Between Glial Fibrillary Acidic Protein And Cognitive Performance In Autosomal Dominant Alzheimer’S Disease, Taryn Gordon

Doctor of Psychology (PsyD)

The rising incidence of Alzheimer’s Disease and its disproportionate prevalence in the female sex has led to a growth in research focused on preclinical Alzheimer’s Disease and the histopathological brain changes. However, limited research has focused on preclinical changes in Autosomal Dominant Alzheimer’s Disease populations and sex differences within these unique populations. This study aimed to address gaps in the literature by examining biological markers of neuroinflammation, glial fibrillary acidic protein (GFAP), in preclinical Autosomal Dominant Alzheimer’s Disease mutation carriers and non-carriers, and its relationship with cognitive function and sex. Archival data was utilized from the Colombia-Boston biomarker study of …

A Mixed Methods Evaluation Of Pharmacists' Readiness To Provide Long-Acting Injectable Hiv Pre-Exposure Prophylaxis In California, Raiza Beltran, Lauren A. Hunter, Laura J. Packel, Loriann De Martini, Ian W. Holloway, Betty J. Dong, Jerika Lam, Sandra I. Mccoy, Ayako Miyashita Ochoa

Pharmacy Faculty Articles and Research

Background:

Pre-exposure prophylaxis (PrEP) uptake remains low among people who could benefit, some of whom may prefer alternatives to oral PrEP, such as long-acting injectable pre-exposure prophylaxis (LAI-PrEP). We evaluated the potential for LAI-PrEP provision in pharmacies through a mixed methods study of pharmacists in California, where Senate Bill 159 enables pharmacists to independently provide oral PrEP.

Methods:

In 2022–2023, we conducted an online cross-sectional survey of California pharmacists and pharmacy students (n = 919) and in-depth interviews with pharmacists (n = 30), both of which included modules assessing attitudes about PrEP provision. Using log-binomial regression, we estimated prevalence ratios …

Radiographic Outcomes And Subsidence Rate In Hyperlordotic Versus Standard Lordotic Interbody Spacers In Patients Undergoing Anterior Cervical Discectomy And Fusion, Rajkishen Narayanan, Nicholas Pohl, Jonathan Dalton, Yunsoo Lee, Anthony Labarbiera, Meryem Guler, Emilie Sawicki, Sebastian Fras, Mark Kurd, John Mangan, I David Kaye, Jose Canseco, Alan Hilibrand, Alex Vaccaro, Christopher Kepler, Gregory Schroeder, Joseph Lee

Rothman Institute Papers

Background: Anterior cervical discectomy and fusion (ACDF) is a common surgery for patients with degenerative cervical disease and current interbody spacers utilized vary based on material composition, structure, and angle of lordosis. Currently, there is a lack of literature comparing subsidence rates or long-term radiographic outcomes with hyperlordotic and standard lordotic spacers. This study compares long-term radiographic outcomes, subsidence rate, and rate of fusion in patients who underwent ACDF with hyperlordotic or standard interbody placement. Materials and Methods: Patients who underwent 1-3-level ACDF with either a standard lordosis or hyperlordotic interbody were included. Standard radiographs were evaluated for C2-7 lordosis …

The Five Homologous Ciar-Controlled Ccn Srnas Of Streptococcus Pneumoniae Modulate Zn-Resistance, Nicholas R De Lay, Nidhi Verma, Dhriti Sinha, Abigail Garrett, Maximillian K Osterberg, Daisy Porter, Spencer Reiling, David P Giedroc, Malcolm E Winkler

Faculty, Staff and Student Publications

Zinc is a vital transition metal for all bacteria; however, elevated intracellular free Zn levels can result in mis-metalation of Mn-dependent enzymes. For Mn-centric bacteria such as Streptococcus pneumoniae that primarily use Mn instead of Fe as an enzyme cofactor, Zn is particularly toxic at high concentrations. Here, we report our identification and characterization of the function of the five homologous, CiaRH-regulated Ccn sRNAs in controlling S. pneumoniae virulence and metal homeostasis. We show that deletion of all five ccn genes (ccnA, ccnB, ccnC, ccnD, and ccnE) from S. pneumoniae strains D39 (serotype 2) and TIGR4 (serotype 4) causes Zn …

Menin Inhibitors In Pediatric Acute Leukemia: A Comprehensive Review And Recommendations To Accelerate Progress In Collaboration With Adult Leukemia And The International Community, Branko Cuglievan, Hagop Kantarjian, Jeffrey E Rubnitz, Todd M Cooper, C Michel Zwaan, Jessica A Pollard, Courtney D Dinardo, Tapan M Kadia, Erin Guest, Nicholas J Short, David Mccall, Naval Daver, Cesar Nunez, Fadi G Haddad, Miriam Garcia, Kapil N Bhalla, Abhishek Maiti, Samanta Catueno, Warren Fiskus, Bing Z Carter, Amber Gibson, Michael Roth, Sajad Khazal, Priti Tewari, Hussein A Abbas, Wallace Bourgeois, Michael Andreeff, Neerav N Shukla, Danh D Truong, Jeremy Connors, Joseph A Ludwig, Janine Stutterheim, Elisabeth Salzer, Kristian L Juul-Dam, Koji Sasaki, Kris M Mahadeo, Sarah K Tasian, Gautam Borthakur, Samantha Dickson, Nitin Jain, Elias Jabbour, Soheil Meshinchi, Guillermo Garcia-Manero, Farhad Ravandi, Eytan M Stein, E Anders Kolb, Ghayas C Issa

Faculty, Staff and Student Publications

Aberrant expression of HOX and MEIS1 family genes, as seen in KMT2A-rearranged, NUP98-rearranged, or NPM1-mutated leukemias leads to arrested differentiation and leukemia development. HOX family genes are essential gatekeepers of physiologic hematopoiesis, and their expression is regulated by the interaction between KMT2A and menin. Menin inhibitors block this interaction, downregulate the abnormal expression of MEIS1 and other transcription factors and thereby release the differentiation block. Menin inhibitors show significant clinical efficacy against KMT2A-rearranged and NPM1-mutated acute leukemias, with promising potential to address unmet needs in various pediatric leukemia subtypes. In this collaborative initiative, pediatric and adult hematologists/oncologists, and stem cell …

Unlocking Ferroptosis In Prostate Cancer – The Road To Novel Therapies And Imaging Markers, Pham Hong Anh Cao, Abishai Dominic, Fabiola Ester Lujan, Sanjanaa Senthilkumar, Pratip K Bhattacharya, Daniel E Frigo, Elavarasan Subramani

Faculty, Staff and Student Publications

Ferroptosis is a distinct form of regulated cell death that is predominantly driven by the build-up of intracellular iron and lipid peroxides. Ferroptosis suppression is widely accepted to contribute to the pathogenesis of several tumours including prostate cancer. Results from some studies reported that prostate cancer cells can be highly susceptible to ferroptosis inducers, providing potential for an interesting new avenue of therapeutic intervention for advanced prostate cancer. In this Perspective, we describe novel molecular underpinnings and metabolic drivers of ferroptosis, analyse the functions and mechanisms of ferroptosis in tumours, and highlight prostate cancer-specific susceptibilities to ferroptosis by connecting ferroptosis …

Discordance Between Aptt And Anti-Xa In Monitoring Heparin Anticoagulation In Mechanical Circulatory Support, Song Li, Ang Li, Jennifer A Beckman, Christopher Kim, Marian A Granich, John Mondin, Daniel E Sabath, David A Garcia, Claudius Mahr

Faculty, Staff and Students Publications

AIMS: It is unclear whether activated partial thromboplastin time (aPTT) or anti-Xa is more accurate for monitoring heparin anticoagulation in mechanical circulatory support (MCS) patients. This study investigates the relationship between aPTT and anti-Xa in MCS patients and identifies predictors of discordance.

METHODS AND RESULTS: aPTT and anti-Xa were simultaneously measured in a prospective cohort of MCS patients receiving unfractionated heparin at a tertiary academic medical centre. Therapeutic aPTT and anti-Xa levels were 60-100 s and 0.3-0.7 IU/mL, respectively, and concordance was defined as both levels being subtherapeutic, therapeutic, or supratherapeutic. To identify predictors of discordance, both a machine learning …

Meta-Analysis Comparing Oral Anticoagulant Monotherapy Versus Dual Antithrombotic Therapy In Patients With Atrial Fibrillation And Stable Coronary Artery Disease, Mushood Ahmed, Areeba Ahsan, Aimen Shafiq, Raheel Ahmed, Mahboob Alam, Pierre Sabouret, Jamal S Rana, Gregg C Fonarow

Faculty, Staff and Students Publications

BACKGROUND: Oral anticoagulants (OACs) are routinely used for the management of atrial fibrillation (AF) while antiplatelet agents are used in coronary artery disease (CAD). However, data regarding the comparative clinical outcomes of OAC monotherapy versus dual antithrombotic therapy (anticoagulant plus antiplatelet agent) in patients with AF and stable CAD are limited.

METHODS: A comprehensive search of major databases including PubMed/MEDLINE, Cochrane Library, and Embase was performed from inception to September 1, 2024 to identify randomized control trials (RCTs) that compared OAC monotherapy with dual antithrombotic therapy in patients with AF and stable CAD. The risk ratios (RRs) were estimated with …

Decoding Complex Inherited Phenotypes In Rare Disorders: The Decipherd Initiative For Rare Undiagnosed Diseases In Chile, M Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos, Joan Orellana, Gabriela Moreno, Luz M Martín, Gonzalo Encina, Daniela Böhme, Víctor Faundes, M Jesús Zavala, Trinidad Hasbún, Sara Fischer, Florencia Brito, Diego Araya, Manuel Lira, Javiera De La Cruz, Camila Astudillo, Guillermo Lay-Son, Carolina Cares, Mariana Aracena, Esteban San Martin, Zeynep Coban-Akdemir, Jennifer E Posey, James R Lupski, Gabriela M Repetto

Faculty, Staff and Students Publications

Rare diseases affect millions of people worldwide, and most have a genetic etiology. The incorporation of next-generation sequencing into clinical settings, particularly exome and genome sequencing, has resulted in an unprecedented improvement in diagnosis and discovery in the past decade. Nevertheless, these tools are unavailable in many countries, increasing health care gaps between high- and low-and-middle-income countries and prolonging the "diagnostic odyssey" for patients. To advance genomic diagnoses in a setting of limited genomic resources, we developed DECIPHERD, an undiagnosed diseases program in Chile. DECIPHERD was implemented in two phases: training and local development. The training phase relied on international …

Multifocal Retinocytoma Associated With Intronic Acceptor Splice Site Variants In The Rb1 Gene, Jennifer Li-Wang, Patricia Chévez-Barrios, Jessica S Thomas, Amy C Schefler

Faculty, Staff and Students Publications

Retinocytomas are benign tumors that arise from mutations in the RB1 gene. Previous research describes the appearance of retinocytomas as that of treated retinoblastoma (Rb) lesions, with characteristics such as chorioretinal atrophy, calcification, and a lack of necrosis or mitotic activity on histopathology. We present the unusual case of an asymptomatic seven-year-old girl with two independent translucent masses in the peripheral retina of the right eye (OD) and extensive intraretinal tumor and vitreous seeds. Initial fundus examination and B-scan ultrasonography documented the two lesions with extensive placoid intraretinal tumor, uncalcified vitreous seeds, and an area of large subhyaloid seed on …

Mutant Npm1 Marginally Impacts Ribosome Footprint In Acute Myeloid Leukemia Cells, Lorenzo Brunetti, Giulia Pianigiani, Michael C Gundry, Margaret A Goodell, Brunangelo Falini

Faculty, Staff and Students Publications

BACKGROUND:NPM1‐mutated acute myeloid leukemia (AML) is the most frequent AML subtype. As wild‐type NPM1 is known to orchestrate ribosome biogenesis, it has been hypothesized that altered translation may contribute to leukemogenesis and leukemia maintenance in NPM1‐mutated AML. However, this hypothesis has never been investigated. We reasoned that if mutant NPM1 (NPM1c) directly impacts translation in leukemic cells, loss of NPM1c would result in acute changes in the ribosome footprint.

METHODS: Here, we performed ribosome footprint profiling (Ribo-seq) and bulk messenger RNA (mRNA) sequencing in two

RESULTS AND DISCUSSION: Incubation of degron cells with the small compound dTAG-13 …