Medicine and Health Sciences Commons^™

Iglon5 Frequency In Idiopathic Rem Sleep Behavior Disorder: A Multicenter Study, Ronald Postuma, Jennifer Mcleland, Albert A. Davis, Yo-El S. Ju, Et Al.

2020-Current year OA Pubs

BACKGROUND AND OBJECTIVES: Idiopathic/isolated REM sleep behavior disorder (iRBD) has been strongly linked to neurodegenerative synucleinopathies such as Parkinson disease, dementia with Lewy bodies, and multiple system atrophy. However, there have been increasing reports of RBD as a presenting feature of serious and treatable autoimmune syndromes, particularly IGLON5. This study's objective was to investigate the frequency of autoantibodies in a large cohort of participants with iRBD.

METHODS: Participants were enrolled in the North American Prodromal Synucleinopathy cohort with polysomnography-confirmed iRBD, free of parkinsonism and dementia. Plasma samples were systematically screened for the autoantibodies IGLON5, DPPX, LGI1, and CASPR2 using plasma …

Clinical Validation Of A Cell-Free Dna Fragmentome Assay For Augmentation Of Lung Cancer Early Detection, Peter J Mazzone, David Gierada, Et Al.

2020-Current year OA Pubs

Lung cancer screening via annual low-dose computed tomography has poor adoption. We conducted a prospective case-control study among 958 individuals eligible for lung cancer screening to develop a blood-based lung cancer detection test that when positive is followed by a low-dose computed tomography. Changes in genome-wide cell-free DNA fragmentation profiles (fragmentomes) in peripheral blood reflected genomic and chromatin characteristics of lung cancer. We applied machine learning to fragmentome features to identify individuals who were more or less likely to have lung cancer. We trained the classifier using 576 cases and controls from study samples and validated it in a held-out …

Dosimetric Predictors Of Acute And Late Gastrointestinal Toxicities In Stereotactic Online Adaptive Magnetic Resonance-Guided Radiotherapy (Smart) For Locally Advanced Pancreatic Adenocarcinoma, Alden D'Souza, Hayley B Stowe, Olga L Green, Joshua Schiff, Geoffrey D Hugo, John Ginn, Borna Maraghechi, Kylie H Kang, Hyun Kim, Shahed N Badiyan, Pamela Samson, Clifford G Robinson, Alex Price, Lauren E Henke

2020-Current year OA Pubs

BACKGROUND AND PURPOSE: A retrospective evaluation of dosimetric predictors and leveraged dose-volume data for gastrointestinal (GI) toxicities for locally-advanced pancreatic cancer (LAPC) treated with daily stereotactic MRI-guided online-adaptive radiotherapy (SMART).

MATERIALS AND METHODS: 147 patients with LAPC were treated with SMART at our institution between 2018 and 2021. Patients were evaluated using CTCAE V5.0 for RT-related acute (≤3 months) and late (>3 months) toxicities. Each organ at risk (OAR) was matched to a ≥ grade 2 (Gr2+) toxicity endpoint composite group. A least absolute shrinkage selector operator regression model was constructed by dose-volumes per OAR to account for OAR …

Effect Of Surgical Fixation Timing On In-Hospital Mortality And Morbidity Of Distal Femur Fractures, Joseph T Gutbrod, Dustin Stwalley, Anna N Miller

2020-Current year OA Pubs

INTRODUCTION: The literature lacks a large-scale study investigating the effect of surgical fixation timing on early mortality and morbidity outcomes in distal femur fractures. The aims of this study were to determine the effect of fixation timing on in-hospital mortality and morbidity outcomes for operatively treated distal femur fractures retrospectively using large database data.

METHODS: This study is a retrospective analysis using data from the National Trauma Data Bank. Patients were stratified into a fragility cohort (age ≥ 60, ISS < 16) and polytrauma cohort (age < 60, ISS ≥16), with both cohorts analyzed separately. Within each cohort, patients were split into three fixation timing groups: within 24 h, between 24 and 48 h, and greater than 48 h from presentation to the hospital. Fixation-timing groups were compared based on the primary outcome of in-hospital mortality rate. Secondary outcomes included hospital length of stay (LOS), ICU length of stay (ICU LOS), days on a ventilator, and complications.

RESULTS: The fragility and polytrauma cohorts included 22,045 and 5,905 patients, respectively. The in-hospital mortality rate was 1.23 % in …

A Phase 1 First-In-Human Study Of The Mcl-1 Inhibitor Azd5991 In Patients With Relapsed/Refractory Hematologic Malignancies, Pinkal Desai, Amanda Cashen, Et Al.

2020-Current year OA Pubs

PURPOSE: AZD5991, a human MCL-1 inhibitor, was assessed for safety, tolerability, pharmacokinetics, and antitumor activity as monotherapy and in combination with venetoclax in patients with relapsed or refractory hematologic malignancies.

PATIENTS AND METHODS: In the monotherapy cohort (n = 61), patients with hematologic malignancies received AZD5991 intravenously in escalating doses either once or twice weekly, following intrapatient dose escalation, during a 3-week cycle. In the combination cohort (n = 17), patients with acute myeloid leukemia and myelodysplastic syndrome received escalating doses of AZD5991 and venetoclax during either a 3- or 4-week cycle. Primary objectives were safety and maximum tolerated dose; …

Multiomic Profiling Identifies Predictors Of Survival In African American Patients With Acute Myeloid Leukemia, Andrew Stiff, Geoffrey L Uy, Et Al.

2020-Current year OA Pubs

Genomic profiles and prognostic biomarkers in patients with acute myeloid leukemia (AML) from ancestry-diverse populations are underexplored. We analyzed the exomes and transcriptomes of 100 patients with AML with genomically confirmed African ancestry (Black; Alliance) and compared their somatic mutation frequencies with those of 323 self-reported white patients with AML, 55% of whom had genomically confirmed European ancestry (white; BeatAML). Here we find that 73% of 162 gene mutations recurrent in Black patients, including a hitherto unreported PHIP alteration detected in 7% of patients, were found in one white patient or not detected. Black patients with myelodysplasia-related AML were younger …

Posttreatment Surveillance Intensity And Overall Survival In Prostate Cancer Survivors (Aft-30), Ronald C Chen, Ramsankar Basak, Stacie Dusetzina, Deborah S Usinger, Zahed Mohammed, Aaron D Falchook, Jessica R Schumacher, Amanda B Francescatti, Amanda Cuddy, George J Chang, Benjamin D Kozower, Caprice C Greenberg, Anne K Barber, Aaron J Katz

2020-Current year OA Pubs

BACKGROUND: Posttreatment surveillance affects millions of cancer survivors, but empiric data to guide clinical practice are lacking. This study assessed whether the intensity of surveillance testing after radical prostatectomy or radiation therapy for localized prostate cancer is associated with overall survival.

METHODS: Men diagnosed with localized prostate cancer between 2005 and 2010 who underwent radical prostatectomy or radiation therapy at a Commission on Cancer-accredited facility were randomly sampled. Primary data collected from 10 147 patients sampled across 1007 facilities were linked with existing data from the National Cancer Database. Analysis examined whether intensity of surveillance measured as the number of …

Evidence Of Human Bourbon Virus Infections, North Carolina, Usa, Diana L Zychowski, Gayan Bamunuarachchi, Scott P Commins, Ross M Boyce, Adrianus C M Boon

2020-Current year OA Pubs

Bourbon virus is a tickborne virus that can cause human disease. Cases have been reported in Kansas, Oklahoma, and Missouri, USA. We identified Bourbon virus-specific neutralizing antibodies in patients from North Carolina. Bourbon virus infections are likely more common than previously thought, highlighting the need for improved diagnostics and surveillance.

Association Between Glucagon-Like Peptide-1 Receptor Agonist Use And Progression Of Monoclonal Gammopathy Of Uncertain Significance To Multiple Myeloma Among Patients With Diabetes, Nikhil Grandhi, Lawrence Liu, Mei Wang, Theodore Thomas, Martin Schoen, Kristen Sanfilippo, Feng Gao, Graham A Colditz, Kenneth R Carson, Murali Janakiram, Su-Hsin Chang

2020-Current year OA Pubs

BACKGROUND: In patients with diabetes and monoclonal gammopathy of uncertain significance (MGUS), the impact of glucagon-like peptide-1 (GLP-1) receptor agonists on the natural history of MGUS is unknown. We aimed to assess the association of GLP-1 receptor agonist use in the progression of MGUS to multiple myeloma in patients with diabetes.

METHODS: This is a population-based cohort study of veterans diagnosed with MGUS from 2006 to 2021 with a prior diagnosis of diabetes. A validated natural language processing algorithm was used to confirm MGUS and progression to multiple myeloma. We performed 1:2 matching for individuals with and without GLP-1 receptor …

Fusobacterium Nucleatum Abundance Is Associated With Cachexia In Colorectal Cancer Patients: The Colocare Study, Mmadili N Ilozumba, Adetunji T Toriola, Et Al.

2020-Current year OA Pubs

BACKGROUND: Cachexia accounts for about 20% of all cancer-related deaths and indicates poor prognosis. The impact of Fusobacterium nucleatum (Fn), a microbial risk factor for colorectal cancer (CRC), on the development of cachexia in CRC has not been established.

METHODS: We evaluated the association between Fn abundance in pre-surgical stool samples and onset of cachexia at 6 months post-surgery in n = 87 patients with stages I-III CRC in the ColoCare Study.

RESULTS: High fecal Fn abundance compared to negative/low fecal Fn abundance was associated with 4-fold increased risk of cachexia onset at 6 months post-surgery (OR = 4.82, 95% …

Evaluation Of Combat Harmonization For Reducing Across-Tracer Differences In Regional Amyloid Pet Analyses, Braden Yang, Tom Earnest, Sayantan Kumar, Deydeep Kothapalli, Tammie Benzinger, Brian Gordon, Aristeidis Sotiras

2020-Current year OA Pubs

Differences in amyloid positron emission tomography (PET) radiotracer pharmacokinetics and binding properties lead to discrepancies in amyloid-β uptake estimates. Harmonization of tracer-specific biases is crucial for optimal performance of downstream tasks. Here, we investigated the efficacy of ComBat, a data-driven harmonization model, for reducing tracer-specific biases in regional amyloid PET measurements from [

Ocular Myasthenia Gravis; A Case Report, Amy Garbo Maxey Od, Kristin Wilson Od

Optometric Clinical Practice

Abstract

Background: Myasthenia gravis (MG) is an autoimmune disease disorder that affects the skeletal muscles causing increased fatigability and weakness. When it affects the ocular muscles only, it is known as ocular myasthenia gravis (OMG). Patients with OMG will often have symptoms of diplopia and ptosis, which will be worse towards the end of the day. This case report will discuss the common symptoms of OMG as well as the appropriate treatment and management. It will also review the diagnostic tests used to aid in the diagnosis of OMG and discuss the prognosis of OMG. Case Report: A 67-year-old male …

Assessing The Effectiveness Of A Non-Punitive Fall Prevention Program, Nicki Roderman, Shandlie Wilcox, Cynthia Lang

HCA Healthcare Journal of Medicine

Background

Our single-center, quality improvement project evaluated the impact of a fall reduction plan while using a Just Culture Algorithm that included weekly fall reviews involving front line staff using a non-punitive structure. The project has shown successful results.

Methods

Prior to starting the program, data at this institution indicated falls were higher than the national fall rate of 3-5 per 1000 patient days. To achieve the goal of reducing the fall rate to below 3.1, an interdisciplinary fall committee was formed, consisting of nurses, nursing leaders, patient care technicians, pharmacists, and physical therapists. The committee operated in a non-punitive …

A Large Scale Multi Institutional Study For Radiomics Driven Machine Learning For Meningioma Grading, Mert Karabacak, Shiv Patil, Rui Feng, Raj K. Shrivastava, Konstantinos Margetis

Department of Medicine Faculty Papers

This study aims to develop and evaluate radiomics-based machine learning (ML) models for predicting meningioma grades using multiparametric magnetic resonance imaging (MRI). The study utilized the BraTS-MEN dataset's training split, including 698 patients (524 with grade 1 and 174 with grade 2-3 meningiomas). We extracted 4872 radiomic features from T1, T1 with contrast, T2, and FLAIR MRI sequences using PyRadiomics. LASSO regression reduced features to 176. The data was split into training (60%), validation (20%), and test (20%) sets. Five ML algorithms (TabPFN, XGBoost, LightGBM, CatBoost, and Random Forest) were employed to build models differentiating low-grade (grade 1) from high-grade …

Optimal Infused Cd34+ Cell Dose In Multiple Myeloma Patients Undergoing Upfront Autologous Hematopoietic Stem Cell Transplantation, Oren Pasvolsky, Curtis Marcoux, Denái R Milton, Babar Pal, Mark R Tanner, Qaiser Bashir, Samer Srour, Jaehyun Lee, Neeraj Saini, Paul Lin, Jeremy Ramdial, Yago Nieto, Guilin Tang, Yosra Aljawai, Partow Kebriaei, Melody R Becnel, Hans C Lee, Krina K Patel, Sheeba K Thomas, Robert Z Orlowski, Elizabeth J Shpall, Richard E Champlin, Muzaffar H Qazilbash

Faculty, Staff and Student Publications

Autologous transplantation remains the standard of care for eligible multiple myeloma (MM) patients, yet optimal CD34+ cell dose remains unclear. We conducted a retrospective study on MM patients undergoing upfront transplant between 2005 and 2021 and divided them into low (≤2.5 × 106 cells/kg) and high (>2.5 × 106 cells/kg) CD34+ dose groups. We included 2479 patients, 95 in the low CD34+ group and 2384 in the high CD34+ group. Patients in the low CD34+ group were older (63.2 vs 61.1 years, p = 0.013), more often had R-ISS III (19% vs 9%, p = 0.014), received plerixafor (60% …

Csf Proteomics Identifies Early Changes In Autosomal Dominant Alzheimer's Disease, Yuanyuan Shen, Jigyasha Timsina, Gyujin Heo, Aleksandra Beric, Muhammad Ali, Ciyang Wang, Chengran Yang, Yueyao Wang, Daniel Western, Menghan Liu, Priyanka Gorijala, John Budde, Anh Do, Haiyan Liu, Brian Gordon, Jorge J Llibre-Guerra, Nelly Joseph-Mathurin, Richard J Perrin, Dario Maschi, Eric Mcdade, John C Morris, Randall J Bateman, Laura Ibanez, Yun Ju Sung, Carlos Cruchaga, Et Al.

2020-Current year OA Pubs

In this high-throughput proteomic study of autosomal dominant Alzheimer's disease (ADAD), we sought to identify early biomarkers in cerebrospinal fluid (CSF) for disease monitoring and treatment strategies. We examined CSF proteins in 286 mutation carriers (MCs) and 177 non-carriers (NCs). The developed multi-layer regression model distinguished proteins with different pseudo-trajectories between these groups. We validated our findings with independent ADAD as well as sporadic AD datasets and employed machine learning to develop and validate predictive models. Our study identified 137 proteins with distinct trajectories between MCs and NCs, including eight that changed before traditional AD biomarkers. These proteins are grouped …

Sociodemographic, Lifestyle, And Medical Factors Associated With Calculated Free Testosterone Concentrations In Men: Individual Participant Data Meta-Analyses, Nick Narinx, Ross J Marriott, Kevin Murray, Robert J Adams, Christie M Ballantyne, Douglas C Bauer, Shalender Bhasin, Mary L Biggs, Peggy M Cawthon, David J Couper, Adrian S Dobs, Leon Flicker, Graeme J Hankey, Anke Hannemann, Robin Wilkening, Sean A Martin, Alvin M Matsumoto, Claes Ohlsson, Terence W O'Neill, Eric S Orwoll, Molly M Shores, Antje Steveling, Thomas G Travison, Gary A Wittert, Frederick C W Wu, Leen Antonio, Dirk Vanderschueren, Bu B Yeap

Faculty, Staff and Students Publications

Objective: Sociodemographic, lifestyle, and medical variables influence total testosterone (T) and sex hormone-binding globulin (SHBG) concentrations. The relationship between these factors and "free" T remains unclear. We examined 21 sociodemographic, lifestyle, and medical predictors influencing calculated free T (cFT) in community-dwelling men across ages.

Design: This is a cross-sectional analysis in 20 631 participants in the Androgens in Men Study.

Methods: Individual participant data (IPD) were provided by 9 cohorts. Total T was determined using mass spectrometry, SHBG using immunoassays, and cFT using the Vermeulen formula. Associations were analyzed using 2-stage random effects IPD meta-analyses.

Results: Cohort median ages ranged …

Practical Strategies For Establishing A Physical Activity Program For Older Aboriginal People - Reflections About Decolonising Practice, Margaret Gidgup, Josephine Umbella, Anne-Marie Hill

Journal of the Australian Indigenous HealthInfoNet

Background
Physical activity (PA) is a vital component of healthy ageing. However, there are few culturally appropriate PA programs available for older Aboriginal and Torres Strait Islander people. The objectives of this review were to i) assist health professionals to gain understanding about working with older Aboriginal people, ii) provide practical strategies that guide a decolonising approach when delivering PA programs.

Methods
A review of PA program delivery was undertaken by two researchers, one of whom was a Noongar Wadjak woman. The researchers conducted a weekly PA program for older Aboriginal people on Noongar Boodja (Country). The researchers took a …

Rezafungin Versus Caspofungin For Patients With Candidaemia Or Invasive Candidiasis In The Intensive Care Unit: Pooled Analyses Of The Restore And Strive Randomised Trials, Patrick M Honoré, Massimo Girardis, Marin Kollef, Oliver A Cornely, George R Thompson Iii, Matteo Bassetti, Alex Soriano, Haihui Huang, Jose Vazquez, Bart Jan Kullberg, Peter G Pappas, Nick Manamley, Taylor Sandison, John Pullman, Saad Nseir

2020-Current year OA Pubs

BACKGROUND: Rezafungin is an echinocandin approved in the US and EU to treat candidaemia and/or invasive candidiasis. This post-hoc, pooled analysis of the Phase 2 STRIVE and Phase 3 ReSTORE trials assessed rezafungin versus caspofungin in patients with candidaemia and/or invasive candidiasis (IC) in the intensive care unit (ICU) at randomisation.

METHODS: STRIVE and ReSTORE were randomised double-blind trials in adults with systemic signs and mycological confirmation of candidaemia and/or IC in blood or a normally sterile site ≤ 96 h before randomisation. Data were pooled for patients in the ICU at randomisation who received intravenous rezafungin (400 mg loading …

The Contribution Of Neutrophil Extracellular Traps To Coagulopathy In Patients With Covid-19-Related Thrombosis, Carolyn Enochs, Gabriela Delevati Colpo, Lucy Couture, Lynae Baskin, Ana E Cahuiche, Eunyoung Angela Lee, Shahid Nimjee, Louise D Mccullough

Faculty, Staff and Student Publications

COVID-19 is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is associated with hypercoagulability and increased incidence of thrombotic events. In this study, we investigated the levels of neutrophil extracellular trap biomarkers and von Willebrand factor to assess if these could predict the occurrence of a thrombotic event in COVID-19 patients. We enrolled 202 patients hospitalized with symptomatic COVID-19 infection. Of those, 104 patients did not experience any type of thrombotic events before or during their hospitalization. These patients were compared to the other cohort of 98, who experienced thrombotic events before or during their hospitalization. In total, …

Multiomic And Clinical Analysis Of Multiply Recurrent Meningiomas Reveals Risk Factors, Underlying Biology, And Insights Into Evolution, Sangami Pugazenthi, Bhuvic Patel, Collin W English, William A Leidig, Kyle P Mcgeehan, Colin R Mccornack, Shinghei Mok, Markus Anzaldua-Campos, Shervin Hosseingholi Nouri, Kaleigh Roberts, Ajay Chatrath, A Khan, Ron Gadot, Hiroko Yano, Tiemo J Klisch, Akdes S Harmanci, Akash J Patel, Albert H Kim

Faculty, Staff and Students Publications

An important subset of meningiomas behaves aggressively and is characterized by multiple recurrences. We identify clinical, genetic, and epigenetic predictors of multiply recurrent meningiomas (MRMs) and evaluate the evolution of these meningiomas in patient-matched samples. On multivariable binomial logistic regression, MRMs were significantly associated with male sex (P = 0.012), subtotal resection (P = 0.001), higher number of meningiomas on presentation (P = 0.017), and histopathological sheeting (P = 0.002). Multiomic analysis of primary meningiomas revealed that MRMs have greater copy number losses (P = 0.0313) and increased DNA methylation (P = 0.0155). In …

Multiomic And Clinical Analysis Of Multiply Recurrent Meningiomas Reveals Risk Factors, Underlying Biology, And Insights Into Evolution, Sangami Pugazenthi, Bhuvic Patel, William A Leidig, Kyle P Mcgeehan, Colin R Mccornack, Shinghei Mok, Markus Anzaldua-Campos, Kaleigh Roberts, Ajay Chatrath, Hiroko Yano, Akdes S Harmanci, Akash J Patel, Albert H Kim, Et Al.

2020-Current year OA Pubs

An important subset of meningiomas behaves aggressively and is characterized by multiple recurrences. We identify clinical, genetic, and epigenetic predictors of multiply recurrent meningiomas (MRMs) and evaluate the evolution of these meningiomas in patient-matched samples. On multivariable binomial logistic regression, MRMs were significantly associated with male sex (

Aromatase, Testosterone, Tmprss2: Determinants Of Covid-19 Severity, Eric C Mohan, Jude P J Savarraj, Gabriela D Colpo, Diego Morales, Carson E Finger, Alexis Mcalister, Hilda Ahnstedt, Huimahn Choi, Louise D Mccullough, Bharti Manwani

Faculty, Staff and Student Publications

Background: Male sex has been identified as a risk factor for worse COVID-19 outcomes. This sex difference has been mostly attributed to the complex role of sex hormones. Cell surface entry of SARS-CoV-2 is mediated by the transmembrane protease serine 2 (TMPRSS2) which is under transcriptional regulation by androgens. P450 aromatase enzyme converts androgens to estrogens. This study measured concentrations of aromatase enzyme, testosterone, estradiol, and TMPRSS-2 in plasma of hospitalized COVID-19 patients to elucidate the dynamics of sex-linked disparity in COVID-19 and correlate them with disease severity and mortality.

Methods: In this prospective cohort study, a total of 265 …

Impact Of Select Actionable Genomic Alterations On Efficacy Of Neoadjuvant Immunotherapy In Resectable Non-Small Cell Lung Cancer, Nicolas Zhou, Cheuk H Leung, William N William, Annikka Weissferdt, Apar Pataer, Myrna C B Godoy, Brett W Carter, Frank V Fossella, Anne S Tsao, George R Blumenschein, Xiuning Le, Jianjun Zhang, Ferdinandos Skoulidis, Jonathan M Kurie, Mehmet Altan, Charles Lu, Bonnie S Glisson, Lauren A Byers, Yasir Y Elamin, Reza J Mehran, David C Rice, Garrett L Walsh, Wayne L Hofstetter, Jack A Roth, Hai T Tran, Jia Wu, Luisa M Solis Soto, Humam Kadara, Stephen G Swisher, Ara A Vaporciyan, Don L Gibbons, Heather Y Lin, J Jack Lee, John V Heymach, Marcelo V Negrao, Boris Sepesi, Tina Cascone

Faculty, Staff and Student Publications

Background: Neoadjuvant immune checkpoint inhibitors (ICIs) have improved survival outcomes compared with chemotherapy in resectable non-small cell lung cancer (NSCLC). However, the impact of actionable genomic alterations (AGAs) on the efficacy of neoadjuvant ICIs remains unclear. We report the influence of AGAs on treatment failure (TF) in patients with resectable NSCLC treated with neoadjuvant ICIs.

Methods: Tumor molecular profiles were obtained from patients with stage I-IIIA resectable NSCLC (American Joint Committee on Cancer seventh edition) treated with either neoadjuvant nivolumab (N, n=23) or nivolumab+ipilimumab (NI, n=21) followed by surgery in a previously reported phase-2 randomized study (NCT03158129). TF …

Gene-Specific Effects On Brain Volume And Cognition Of Tmem106b In Frontotemporal Lobar Degeneration, Marijne Vandebergh, Nupur Ghoshal, Et Al.

2020-Current year OA Pubs

BACKGROUND AND OBJECTIVES:

METHODS: Participants were enrolled through the ARTFL/LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study, which includes symptomatic and presymptomatic individuals with a pathogenic variant in

RESULTS: The minor allele of

DISCUSSION: We identified associations of

The Black And African American Connections To Parkinson’S Disease (Blaac Pd) Study Protocol, Lana M Chahine, Naomi Louie, J Solle, Fulya Akçimen, Andrew Ameri, Samantha Augenbraun, Sabrina Avripas, Sarah Breaux, Christopher Causey, Shivika Chandra, Marissa Dean, Elizabeth A Disbrow, Lauren Fanty, Jessica Fernandez, Erin R Foster, Erin Furr Stimming, Deborah Hall, Vanessa Hinson, Ashani Johnson-Turbes, Cabell Jonas, Camilla Kilbane, Scott A Norris, Bao-Tran Nguyen, Mahesh Padmanaban, Kimberly Paquette, Carly Parry, Natalia Pessoa Rocha, Ashley Rawls, Ejaz A Shamim, Lisa M Shulman, Rebeka Sipma, Julia Staisch, Rami Traurig, Rainer Von Coelln, Peter Wild Crea, Tao Xie, Zih-Hua Fang, Alyssa O'Grady, Catherine M Kopil, Maggie Mcguire Kuhl, Andrew Singleton, Cornelis Blauwendraat, Sara Bandres-Ciga

Faculty, Staff and Student Publications

Determining the genetic contributions to Parkinson's disease (PD) across diverse ancestries is a high priority as this work can guide therapeutic development in a global setting. The genetics of PD spans the etiological risk spectrum, from rare, highly deleterious variants linked to monogenic forms with Mendelian patterns of inheritance, to common variation involved in sporadic disease. A major limitation in PD genomics research is lack of racial and ethnic diversity. Enrollment disparities have detrimental consequences on the generalizability of results and exacerbate existing inequities in care. The Black and African American Connections to Parkinson's Disease (BLAAC PD) study is part …

Micrornas Are Enriched At Covid-19 Genomic Risk Regions, And Their Blood Levels Correlate With The Covid-19 Prognosis Of Cancer Patients Infected By Sars-Cov-2, Simone Anfossi, Faezeh Darbaniyan, Joseph Quinlan, Steliana Calin, Masayoshi Shimizu, Meng Chen, Paola Rausseo, Michael Winters, Elena Bogatenkova, Kim-Anh Do, Ivan Martinez, Ziyi Li, Loredana Antal, Tudor Rares Olariu, Ignacio Wistuba, George A Calin

Faculty, Staff and Student Publications

Background: Cancer patients are more susceptible to an aggressive course of COVID-19. Developing biomarkers identifying cancer patients at high risk of COVID-19-related death could help determine who needs early clinical intervention. The miRNAs hosted in the genomic regions associated with the risk of aggressive COVID-19 could represent potential biomarkers for clinical outcomes.

Patients and methods: Plasma samples were collected at The University of Texas MD Anderson Cancer Center from cancer patients (N = 128) affected by COVID-19. Serum samples were collected from vaccinated healthy individuals (n = 23) at the Municipal Clinical Emergency Teaching Hospital in Timisoara, Romania. An in …

Racial Variability In Immune Responses Only Partially Explains Differential Systemic Sclerosis Disease Severity, Kamini E Kuchinad, Ji Soo Kim, Adrianne Woods, Gwen Leatherman, Laura Gutierrez-Alamillo, Maureen D Mayes, Robyn Domsic, Paula S Ramos, Richard M Silver, John Varga, Lesley Ann Saketkoo, Suzanne Kafaja, Victoria K Shanmugan, Jessica Gordon, Lorinda Chung, Elana J Bernstein, Pravitt Gourh, Francesco Boin, Daniel L Kastner, Scott L Zeger, Livia Casciola-Rosen, Fredrick M Wigley, Ami A Shah

Faculty, Staff and Student Publications

Objective: To understand if autoantibodies account for racial variation in disease severity, we compared autoantibody distribution and associated phenotype between self-identified black and white systemic sclerosis (SSc) patients.

Methods: 803 black and 2178 white SSc patients had systematic testing for autoantibodies using Euroimmun (centromere (ACA), RNA-polymerase III (POLR3), Scl70, PM/Scl, NOR90, Th/To, Ku, U3RNP and Ro52) and commercial ELISA (U1RNP). In this observational study, logistic regression was performed to assess the association between self-identified race and outcomes, adjusting for autoantibodies. To estimate whether the effect of race was mediated by autoantibody status, race coefficients from multivariate models including and excluding …

The Black And African American Connections To Parkinson's Disease (Blaac Pd) Study Protocol, Lana M Chahine, Scott A Norris, Et Al.

2020-Current year OA Pubs

Determining the genetic contributions to Parkinson's disease (PD) across diverse ancestries is a high priority as this work can guide therapeutic development in a global setting. The genetics of PD spans the etiological risk spectrum, from rare, highly deleterious variants linked to monogenic forms with Mendelian patterns of inheritance, to common variation involved in sporadic disease. A major limitation in PD genomics research is lack of racial and ethnic diversity. Enrollment disparities have detrimental consequences on the generalizability of results and exacerbate existing inequities in care. The Black and African American Connections to Parkinson's Disease (BLAAC PD) study is part …

Perioperative Chemoimmunotherapy Induces Strong Immune Responses And Long-Term Survival In Patients With Hla Class I-Deficient Non-Small Cell Lung Cancer, Marta Molina-Alejandre, Francisco Perea, Virginia Calvo, Cristina Martinez-Toledo, Ernest Nadal, Belén Sierra-Rodero, Marta Casarrubios, Joaquín Casal-Rubio, Alex Martinez-Martí, Amelia Insa, Bartomeu Massuti, Santiago Viteri, Isidoro Barneto Aranda, Delvys Rodriguez-Abreu, Javier De Castro, Joaquín Mosquera Martínez, Manuel Cobo, Ignacio I Wistuba, Edwin R Parra, Javier Martín-López, Diego Megías, Rafael Muñoz-Viana, Federico Garrido, Natalia Aptsiauri, Francisco Ruiz-Cabello, Mariano Provencio, Alberto Cruz-Bermúdez

Faculty, Staff and Student Publications

BACKGROUND: Loss of human leukocyte antigen (HLA) class I expression and loss of heterozygosity (LOH) are common events implicated in the primary resistance of non-small cell lung cancer (NSCLC) to immunotherapy. However, there is no data on perioperative chemoimmunotherapy (ChIO) efficacy or response mechanisms in the context of HLA class I defects.

METHODS: Baseline HLA class I tumor status (HLA-deficient (HLA-DEF) or HLA-proficient (HLA-PRO)) was determined by DNA LOH combined with immunohistochemistry for protein levels in tissue of 24 patients with NSCLC treated with perioperative nivolumab plus chemotherapy from NADIM trial (NCT03081689). We integrated HLA tumor status with molecular data …