Digital Commons Network^™

Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic-Berkmen, Ai Huey Tan, Shen-Yang Lim, Ebba Lohmann, Kaja M Schröder, Lea Ipsen, Lena A Nothacker, Linn Welzel, Alexandra S Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E Zeuner, Friederike Schumann, Andrea A Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E Lang, Yi Wen Tay, Ana Luísa De Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S Perlmutter, Jeanne S Feuerstein, Victor S C Fung, Florence Chang, Richard L Barbano, Steven Bellows, Aparna A Wagle Shukla, Alberto J Espay, Mark S Ledoux, Brian D Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H A Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann

Faculty, Staff and Students Publications

Objective: Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex.

Methods: Exome sequencing was conducted on 1924 genetically unsolved, mainly late-onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia (n = 406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible.

Results: We identified 137 distinct likely pathogenic/pathogenic variants (according to ACMG …

Psychometric Evaluation Of The Yale-Brown Obsessive-Compulsive Scale In Pregnant Women, Catherine E Rast, Rashelle Musci, Jonathan S Abramowitz, Gerald Nestadt, Paul Nestadt, Mary C Kimmel, Tracey Dibbs, Lauren M Osborne, Jack Samuels, Janice Krasnow, Eric A Storch

Faculty, Staff and Students Publications

Purpose: Although many women experience obsessive-compulsive symptoms during the perinatal period, the Yale-Brown Obsessive Compulsive Scale (YBOCS) has not yet been psychometrically evaluated in this population. This study examined the internal consistency, convergent and divergent validity, and factor structure of the YBOCS among pregnant women.

Methods: 256 Women who were 20 to 24 weeks pregnant completed the clinician-administered YBOCS and Mini International Neuropsychiatric Interview (MINI) along with a series of self-report questionnaires including the Edinburgh Postnatal Depression Scale (EPDS), Perinatal Anxiety Screening Scale (PASS) and Obsessive-Compulsive Inventory-Revised (OCI-R).

Results: Internal consistency of the YBOCS was excellent, and there were strong …

Prevalence Of Fibrosis In Hepatic Explants And Biopsies From Individuals With Urea Cycle Disorders, Saima Ali, Aisha Nisar, Anqing Zhang, Sandesh Nagamani, Nathalie M Aceves-Ewing, Brandy Rawls, Thu Quan, Greg Enns, John Goss, Daniel H Leung, Benjamin L Shneider, Shilpa Jain, Florette K Hazard, Deborah Schady, Lindsay C Burrage

Faculty, Staff and Students Publications

Background: Various forms of liver disease have been increasingly reported in individuals with urea cycle disorders (UCDs). In this study, we performed the first systematic and standardized histopathological assessment of the prevalence of fibrosis and steatosis in a large sample of hepatic explants and biopsies from individuals with UCDs at two liver transplantation centers.

Methods: Sixty-seven hepatic tissue samples from 66 individuals with UCDs were staged by two pathologists for hepatic fibrosis and steatosis using standard scoring systems at two large liver transplantation centers in the United States. Histopathological findings were correlated with clinical parameters, including UCD type, laboratory parameters, …

Experiences Of The Emergency Department Environment: A Qualitative Study With Caregivers Of People With Dementia, Anita N Chary, Michelle Suh, Annika Bhananker, Norvin Hernandez, Ana Paulina Rivera, Ed Boyer, Mark E Kunik, Manish N Shah, Christine Ritchie, Aanand D Naik, Shan W Liu, Maura Kennedy

Faculty, Staff and Students Publications

ED crowding and boarding adversely impact older patients' care and outcomes. Little is known about how ED crowding impacts persons living with dementia, a vulnerable population. This study sought to explore ED experiences of caregivers of people with dementia during a period of ED crowding and boarding. We performed semi-structured interviews with caregivers of people with dementia with an ED visit during a period of ED crowding and boarding at two public hospitals experiencing a threefold increase in boarding from pre-pandemic levels. Participants were recruited via chart review. We coded data using an inductive approach. Three themes emerged from 29 …

Implementation Outcomes Of A Patient Decision-Aid In A Diverse Population With Systemic Lupus Erythematosus In 15 Us Rheumatology Clinics, Jasvinder A Singh, Larry R Hearld, Seth Eisen, W Winn Chatham, Sonali Narain, Narender Annapureddy, Diane L Kamen, Kimberly Trotter, Vikas Majithia, Cathy Lee Ching, Zineb Aouhab, Swamy Venuturupalli, Daniel J Wallace, Rosalind Ramsey-Goldman, Alfred Kim, Maureen Mcmahon, S Sam Lim, Kalpana Bhairavarasu, Alexa Meara, Kenneth Kalunian, T Mark Beasley

Faculty, Staff and Students Publications

Objective: The objective of this study was to examine the clinical outcomes during the implementation of a self-administered patient decision-aid (PtDA) for lupus.

Methods: We provided an effective computerized lupus PtDA in 15 rheumatology outpatient clinics 2019-2024 (including the COVID pandemic). We undertook Organizational Readiness to Implement Change Surveys (ORICs) and Team Learning and Psychological Safety Surveys (TLPSSs) at baseline. The primary study outcome objective measure, percent penetration/reach, was defined as the number of patients who viewed the lupus PtDA at the end of the study, divided by the total number of eligible patients (times 100). We used validated clinical …

Are There Rural-Urban Disparities In Cardiovascular Disease Hospitalization And Other Outcomes In People With Gout? A Nationwide Us Study, Jasvinder A Singh, Sumanth R Chandrupatla

Faculty, Staff and Students Publications

Objective: The objective of this study was to assess whether rural vs urban patient residence is associated with the risk of myocardial infarction (MI) hospitalization and other outcomes in people with gout.

Methods: We used the 2016-2019 U.S. National Inpatient Sample (NIS) database to assess whether rural patient residence is associated with a higher risk of MI hospitalizations in gout, while adjusting for demographics (age, sex, race), comorbidity, median household income, insurance payer, and hospital characteristics (location and teaching status, bed size, hospital control, and hospital region). We calculated adjusted odds ratios (aORs) and 95% CIs (CIs).

Results: We found …

Lack Of Relationships Between Ketamine Treatment And Peripheral Neurotrophic And Inflammatory Factors In A Randomized Controlled Ketamine Trial Of Major Depressive Disorder, Manivel Rengasamy, Benjamin Panny, Zakary Hutchinson, Anna Marsland, Tessa Kovats, Angela Griffo, Crystal Spotts, Robert H Howland, Meredith L Wallace, Sanjay J Mathew, Shabnam Hossein, Rebecca B Price

Staff and Researcher Publications

Background: Ketamine is a rapid-acting treatment for treatment-resistant depression (TRD), though mechanisms related to ketamine's effects remain unclear. Blood-based neurotrophic and inflammatory factors (NIFs; e.g., brain-derived neurotrophic factor, interleukin-6) have emerged as markers potentially linked to ketamine and ketamine treatment response.

Methods: In this secondary analysis of a randomized controlled trial (RCT), 133 adults with TRD received a single-dose infusion of ketamine (n = 89; 0.5 mg/kg) or saline (n = 44) and provided measures of peripheral blood NIF levels and depression severity across a five-day post-infusion period. Differences between ketamine and saline groups were examined for (1) NIF levels, …

Changes In Post-Transplant Serum Testosterone Levels In Men Undergoing Lung Transplantation: A Pilot Study Using The Trinetx Research Network, Austin Thompson, Danly Omil-Lima, Jaime Abraham Perez, Erin Jesse, Mohit Khera, Kenneth Chavin, Nannan Thirumavalavan

Faculty, Staff and Students Publications

Hypogonadism is understudied in men requiring solid organ transplants, particularly among lung transplant recipients. Improvement in serum testosterone levels has been reported in kidney and liver transplantation. Using the TriNetX Research Network, we performed a retrospective cohort study to evaluate the incidence of peri-transplant hypogonadism and the natural course of serum testosterone following successful lung transplantation. Men aged ≥ 18 with a lung transplant and total testosterone drawn within one year pre- and post-transplant were included. Men with receipt of testosterone therapy were excluded. A low testosterone (< 300 ng/dL) and normal testosterone (≥300 ng/dL) cohort was created before employing descriptive and analytic statistics to investigate the incidence of peri-transplant hypogonadism and the change in serum testosterone levels following lung transplantation. In our entire cohort, lung transplantation was not associated with a significant increase in post-transplant serum testosterone (329.86 ± 162.56 ng/dL pre-transplant and 355.13 ± 216.11 ng/dL post-transplant, p = 0.483). The number of men with low testosterone decreased by 9.8% following lung transplantation but was not significant, p = 0.404. In this pilot study, no significant change in the number of hypogonadal men nor serum testosterone levels was observed among men undergoing lung transplantation.

Global Cardiac Anesthesia Workforce Assessment: A Cross-Sectional Observational Survey Study, Alexander J C Mittnacht, Carolina S Romero Garcia, Joshua B Cadwell, Jiapeng Huang, Iwan Sofjan, Mohamed R Eltahan, Hong Liu, Chirojit Mukherjee, Fabio Guarracino, Andrew Shaw, Pablo Motta, International Academy Of Cardiac Anaesthesiologists (Iaca) Global Survey Team

Faculty, Staff and Students Publications

Objective: The primary aim of this survey was to assess the demographics, training background, practice setting, and work environment of cardiac anesthesiologists globally.

Design: Cross-sectional study of the global cardiac anesthesia workforce. A multilingual web-based survey was conducted between June 1 and December 31, 2023.

Setting: The survey was distributed via cardiac anesthesia societies, special interest groups, and social media using a non-probabilistic sample and with snowballing techniques.

Participants: Anesthesiologists actively practicing cardiac anesthesia.

Interventions: None.

Measurements and main results: In total, 3,430 participants from 99 countries responded. Results were summarized as descriptive data comparing geographical regions, and noticeable differences …

High Risk Of Drug-Resistant Tuberculosis In Igra-Negative Contacts: Should Preventive Treatment Be Considered?, Thomas Theo Brehm, Niklas Köhler, Hans-Peter Grobbel, Jürgen Welling, Anna Maria Mandalakas, Vinicius Fava, Erwin Schurr, Christoph Lange

Faculty, Staff and Students Publications

Purpose: Deciding whether to provide preventive treatment to contacts of individuals with multidrug-resistant (MDR) tuberculosis is complex.

Methods: We present the diagnostic pathways, clinical course and outcome of tuberculosis treatment in eight siblings from a single family. Tuberculosis disease was diagnosed by Mycobacterium tuberculosis culture and molecular detection of M. tuberculosis-specific DNA from bronchopulmonary specimens using GeneXpert® MTB/RIF. M. tuberculosis infection was diagnosed by an interferon-gamma release assay (IGRA; QuantiFERON®-TB Gold Plus). Whole exome sequencing for genetic predisposition to mycobacterial infection was performed in one patient.

Results: Six of eight siblings aged 16-20 years from a migrant family of Somali …

Safety And Efficacy Of Deep Tms For Adolescent Depression Based On Large Real-World Data Analysis, Yiftach Roth, Aron Tendler, Gaby S Pell, Teejay Tripp, Philip Yam, Dianne Dekeyser, Mah Mekolle, Jayson Tripp, Aaron J Dahl, Owen S Muir, Carlene M Macmillan, Kevin R Rosi, Steven A Harvey, Teresa Poprawski, Kevin M Kinback, Oluremi Adefolarin, Alexander Rohr, Mark E Blair, Diana Ghelber, Raymond Y Cho, Hannah R Kelly, Raymond C Garcia, Amita Jha, Richard A Bermudes, Colleen A Hanlon

Staff and Researcher Publications

Adolescent major depressive disorder (MDD) is a prevalent and serious mental health condition. Pharmacological treatments are commonly used but often have poor tolerability and severe side effects, such as suicidal ideation. Deep transcranial magnetic stimulation (TMS) is currently cleared treating MDD in individuals 22-86 years old. This post-marketing surveillance study was designed to evaluate the safety and efficacy of using this tool as a treatment for MDD in younger patients. Data were collected from 56 sites, resulting in 1257 patients that met inclusion criteria (e.g. 11-21 years old, H1 coil, 18 Hz or iTBS, treatment-resistant MDD). Treatment was well tolerated …

Notice-Ed: Nurse Or Technician Insights Into Cognitive Evaluations In The Emergency Department, Sarah J Nessen, Anita N Chary, Annika R Bhananker, K Jane Muir, Lauren T Southerland, Kyra O'Brien, Ari B Friedman

Faculty, Staff and Students Publications

Background: Several strategies have been proposed to increase chronic cognitive impairment (CI) screening in the emergency department (ED). Our goal was to assess the feasibility and acceptability of implementing specific CI screening tools and strategies in the ED from an ED registered nurse and technician perspective.

Methods: We performed a qualitative study using semi-structured interviews with a purposive sample of ED nurses and ED technicians (EDTs). Participants worked at an urban academic hospital and were interviewed between November 2023 and March 2024. Interviews assessed participants' opinions on the feasibility and acceptability of CI screening and the use of machine learning …

Characterization Of Visual Field Loss Over 4 Years In The Rate Of Progression In Ush2a-Related Retinal Degeneration (Rush2a) Study, Jacque L Duncan, Maureen G Maguire, Lee S Mcdaniel, Nicole R Doucet, Isabelle Audo, Allison R Ayala, Janet K Cheetham, Peiyao Cheng, Todd A Durham, Rachel M Huckfeldt, Robert B Hufnagel, K Thiran Jayasundera, Naheed Khan, Brett Malbin, Ramiro S Maldonado, Michel Michaelides, Mark E Pennesi, Christina Y Weng, Alex Zmejkoski, Shobana Aravind, Hiroshi Ishikawa, David G Birch

Faculty, Staff and Students Publications

Purpose: To report visual field loss using static perimetry (SP) and kinetic perimetry (KP) over 4 years in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) study.

Design: Prospective, observational cohort study.

Subjects, participants, and/or controls: Participants had USH2A-related rod-cone degeneration, visual acuity ≥20/80, and KP III4e ≥10° at baseline in the study eye. Preserved cohorts with baseline visual fields sufficient to detect progression were identified.

Methods: Participants were examined annually through 4 years. Mixed-effects models were used to estimate the annual, standardized rate, and percentage rates of change.

Main outcome measures: SP measures included hill of vision (total: …

Ruptured Arteriovenous Malformation Mortality: Incidence, Risk Factors, And Inpatient Outcome Score, Eric Feldstein, Allison Zhong, Kevin Clare, Bridget Nolan, Smit Patel, Nir Lavi-Romer, Zehavya Stadlan, Alis Dicpinigaitis, Jose Dominguez, Haris Kamal, Steven D Shapiro, Arundhati Biswas, Omar Tanweer, Ketan Bulsara, Carrie Muh, Jared Pisapia, Simon Hanft, Stephan Mayer, Chirag D Gandhi, Fawaz Al-Mufti

Faculty, Staff and Students Publications

Background

Limited literature exists on the morbidity and mortality of AVM associated intracerebral hemorrhage (ICH) compared with non-AVM ICH.

Objective

We examine morbidity and mortality in cAVM in a large nationwide inpatient sample to create a prognostic inpatient ruptured AVM mortality score.

Methods

This retrospective cohort study from 2008 to 2014 compares outcomes in cAVM related hemorrhages and ICH utilizing the National Inpatient Sample database. Diagnostic codes for ICH and AVM underlying ICH were identified. We compared case fatality according to medical complications. Multivariate analysis was used to derive hazard ratios and 95% confidence intervals to assess odds of mortality. …

Diagnostic Value Of Cell-Free Dna Fetal Fraction In Patients With Prenatally Suspected Placenta Accreta Spectrum Disorder, Danielle Chirumbole, Christian M Parobek, Alex Tai, Haleh Sangi-Haghpeykar, Yamely H Mendez, Spoorthi Kamepalli, Christina C Reed, Arthur Ladron De Guevara, Keneshia Lane, Claire Hoppenot, Amir A Shamshirsaz, Michael A Belfort, Jessian L Munoz, Hendrik A Lombaard

Faculty, Staff and Students Publications

Objective: The purpose of this study was to investigate the relationship between fetal fraction (FF) and placenta accreta spectrum (PAS) pathology in patients with prenatally suspected PAS.

Methods: This was a case-control study utilizing a database of pregnancies with suspected or proven PAS delivered between 6/2012 and 7/2024 at a single institution. Pregnancies were excluded if FF was not reported. The primary outcome was mean FF in pregnancies with a final clinical diagnosis of low FIGO grade (no PAS or FIGO1-2) versus high FIGO grade (FIGO3) placenta accreta. Results were reported as mean FF ± standard error of the mean. …

Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Joel S Perlmutter, Et Al.

2020-Current year OA Pubs

OBJECTIVE: Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly complex.

METHODS: Exome sequencing was conducted on 1924 genetically unsolved, mainly late-onset isolated dystonia patients, recruited primarily from two dystonia registries (DysTract and the Dystonia Coalition). Rare variants in genes previously linked to dystonia (n = 406) were examined, confirmed via Sanger sequencing, and analyzed for segregation when possible.

RESULTS: We identified 137 distinct likely pathogenic/pathogenic variants (according to ACMG …

Implementation Outcomes Of A Patient Decision-Aid In A Diverse Population With Systemic Lupus Erythematosus In 15 Us Rheumatology Clinics, Jasvinder A Singh, Seth Eisen, Alfred Kim, Et Al.

2020-Current year OA Pubs

OBJECTIVE: The objective of this study was to examine the clinical outcomes during the implementation of a self-administered patient decision-aid (PtDA) for lupus.

METHODS: We provided an effective computerized lupus PtDA in 15 rheumatology outpatient clinics 2019-2024 (including the COVID pandemic). We undertook Organizational Readiness to Implement Change Surveys (ORICs) and Team Learning and Psychological Safety Surveys (TLPSSs) at baseline. The primary study outcome objective measure, percent penetration/reach, was defined as the number of patients who viewed the lupus PtDA at the end of the study, divided by the total number of eligible patients (times 100). We used validated clinical …

Combination Effect Of Finerenone And Empagliflozin In Participants With Chronic Kidney Disease And Type 2 Diabetes Using A Uacr Endpoint (Confidence) Trial: Baseline Clinical Characteristics, Rajiv Agarwal, Janet B Mcgill, Et Al.

2020-Current year OA Pubs

BACKGROUND: Finerenone, a selective nonsteroidal mineralocorticoid receptor antagonist, and sodium-glucose cotransporter 2 inhibitors (SGLT2is) both reduce chronic kidney disease (CKD) progression and improve kidney/cardiovascular (CV) outcomes. The CONFIDENCE (COmbinatioN effect of FInerenone anD EmpaglifloziN in participants with chronic kidney disease and type 2 diabetes using a UACR Endpoint) study (NCT05254002; EudraCT 2021-003037-11) hypothesis is that early combination of finerenone and empagliflozin, an SGLT2i, is superior to either drug alone in reducing urine albumin-to-creatinine ratio (UACR) over 6 months.

METHODS: CONFIDENCE is an ongoing, fully enrolled, randomized, controlled, double-blind, multicentre phase 2 clinical trial in adults (≥18 years of age) with …

High-Density Lipoprotein-Associated Cholesterol Abnormalities In A Clinical Outcomes Study Of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2, Zoe White, Alan Pestronk, Et Al.

2020-Current year OA Pubs

BACKGROUND: Limb-girdle muscular dystrophy (MD) type R2 (LGMDR2, formerly LGMD2B) is an autosomal recessive form of MD caused by variants in the dysferlin gene, DYSF. It leads to slow proximal and distal muscle weakening that generally results in loss of ambulation around early adulthood but without the lethal cardiorespiratory dysfunction observed in the more severe Duchenne MD. How loss of dysferlin causes muscle fibre death is poorly understood, but recent evidence suggests a link between muscle wasting and loss of muscle cholesterol homeostasis with circulating lipoprotein abnormalities in many forms of MD.

METHODS: Cross-sectional circulating total cholesterol (CHOL), high-density lipoprotein-associated …

Screening Programmes And Breast Cancer Mortality: An Observational Study Of 194 Countries, Syed Mahfuz Al Hasan, Debbie L Bennett, Adetunji T Toriola

2020-Current year OA Pubs

OBJECTIVE: To investigate the associations between national breast cancer screening programmes and breast cancer mortality globally.

METHODS: We collected data on breast cancer screening programmes and breast cancer mortality from the World Health Organization's Global Health Observatory, the Global Burden of Diseases 2021 study and the Eurostat database. We assessed differences in breast cancer mortality between countries with regular and irregular screening programmes, adjusting for sociodemographic index. We calculated annual changes in breast cancer mortality from 2015 to 2021 and assessed differences in mortality changes between countries with regular and irregular screening programmes.

FINDINGS: Between 2015 and 2021, 94 of …

Benefit Of Early Oseltamivir Therapy For Adults Hospitalized With Influenza A: An Observational Study, Nathaniel M Lewis, Jennie H Kwon, Et Al.

2020-Current year OA Pubs

BACKGROUND: Clinical guidelines recommend initiation of antiviral therapy as soon as possible for patients hospitalized with confirmed or suspected influenza.

METHODS: A multicenter US observational sentinel surveillance network prospectively enrolled adults (aged ≥18 years) hospitalized with laboratory-confirmed influenza at 24 hospitals during 1 October 2022-21 July 2023. A multivariable proportional odds model was used to compare peak pulmonary disease severity (no oxygen support, standard supplemental oxygen, high-flow oxygen/non-invasive ventilation, invasive mechanical ventilation, or death) after the day of hospital admission among patients starting oseltamivir treatment on the day of admission (early) versus those who did not (late or not treated), …

Association Between Nt-Probnp Changes And Clinical Outcomes In Paediatric Patients With Heart Failure: Insights From Panorama-Hf And Paradigm-Hf, Robert Shaddy, Charles Canter, Et Al.

2020-Current year OA Pubs

AIMS: The PANORAMA-HF trial demonstrated significant N-terminal pro-B-type natriuretic peptide (NT-proBNP) reductions in paediatric patients with left ventricular systolic dysfunction with sacubitril/valsartan or enalapril treatment over 52 weeks. This post hoc analysis aims to correlate changes in NT-proBNP levels with clinical outcomes in PANORAMA-HF patients receiving either sacubitril/valsartan or enalapril. Additionally, NT-proBNP reductions in the paediatric population were compared with a subset of adult heart failure with reduced ejection fraction (HFrEF) patients from the PARADIGM-HF trial.

METHODS AND RESULTS: This post hoc analysis utilized data from Part 2 of the PANORAMA-HF trial. Associations between baseline NT-proBNP levels, changes post-baseline and …

Validation Of The Brugia Test Plus To Detect Igg4 Antibodies In Individuals From Belitung Timur, A Brugia Malayi Endemic Area In Indonesia, Taniawati Supali, Elisa Iskandar, Noviani Sugianto, Yenny Djuardi, Katherine Gass, Jean M. Saunders, Peter U. Fischer, Marco A. Biamonte

2020-Current year OA Pubs

The Brugia Test Plus (BT+) is a new rapid diagnostic test for Brugia species which detects human IgG4 antibodies specific for the immunogenic Brugia protein BmR1. The aim of this study was to evaluate the BT+ assay with several types of sample-matrices: whole blood, plasma, and dried blood spots (DBS) from individuals living in Belitung Timur, a Brugia malayi endemic area in Indonesia. Night blood was collected from residents living in four presumed endemic villages, while DBS were collected from schoolchildren living in those four villages. The sensitivity of BT+ was measured by comparing the BT+ results to microscopic examination …

Longer Scans Boost Prediction And Cut Costs In Brain-Wide Association Studies, Leon Qi Rong Ooi, Scott Marek, Nico U F Dosenbach, Timothy O Laumann, Evan M Gordon, Et Al.

2020-Current year OA Pubs

A pervasive dilemma in brain-wide association studies

Domains Of Housing Instability And Intimate Partner Violence Risk Among U.S. Tenants, Anairany Zapata, Leila G Wood, Annalynn M Galvin, Wenyaw Chan, Timothy A Thomas, Jack Tsai, Heather K Way, Elizabeth J Mueller, Daphne C Hernandez

Faculty, Staff and Student Publications

While IPV is often studied as a predictor of housing insecurity, few U.S. studies explore how different forms of housing instability may contribute to intimate partner violence (IPV) risk. Using a mixed-methods approach and a cross-sectional design, this study examined the association between four housing instability domains and IPV among a sample of tenants that had either experienced eviction or were at high risk for eviction. Tenants in Harris and Travis counties (Texas, USA) completed an online survey (n = 1085; March–July 2024). Housing instability was assessed across four domains: homelessness, lease violations, utility hardship, and poor housing quality. …

Retrotransposon Methylation Profiles And Survival In Black Women With High-Grade Serous Ovarian Carcinoma., Christelle Colin-Leitzinger, Katherine A. Lawson-Michod, Courtney E. Johnson, Irma M. Vlasac, Sean Yoder, Tania Mesa, Dana Roeber, Chad Huff, Michelle A T Hildebrandt, Kristin Haller, Anthony J. Alberg, Elisa V. Bandera, Melissa Bondy, Michele L. Cote, Theresa Hastert, Edward S. Peters, Paul D. Terry, Andrew B. Lawson, Andrew Berchuck, Brooke L. Fridley, Jing-Yi Chern, Jennifer A. Doherty, Jeffrey R. Marks, Joellen M. Schildkraut, Brock C. Christensen, Lucas A. Salas, Lauren C. Peres

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Retrotransposons (REs) constitute nearly half of the genome and include long terminal repeat (LTR) elements, Long INterspersed Elements (LINE), and Short INterspersed Elements (SINE). REs are typically silenced in somatic tissues via DNA methylation but can be reactivated through DNA hypomethylation, potentially impacting gene regulation. Here, we investigate genome-scale profiles of RE methylation in high-grade serous ovarian carcinoma (HGSOC) and associations with survival among Black women.

METHODS: Methylation levels of LTR, LINE-1, and Alu (type of SINE) in 200 HGSOC tumors were predicted using a random forest approach and clustered using multiple consensus algorithms. Associations between RE methylation clusters …

Retrotransposon Methylation Profiles And Survival In Black Women With High-Grade Serous Ovarian Carcinoma, Christelle Colin-Leitzinger, Katherine A Lawson-Michod, Courtney E Johnson, Irma M Vlasac, Sean Yoder, Tania Mesa, Dana Roeber, Chad Huff, Michelle A T Hildebrandt, Kristin Haller, Anthony J Alberg, Elisa V Bandera, Melissa Bondy, Michele L Cote, Theresa Hastert, Edward S Peters, Paul D Terry, Andrew B Lawson, Andrew Berchuck, Brooke L Fridley, Jing-Yi Chern, Jennifer A Doherty, Jeffrey R Marks, Joellen M Schildkraut, Brock C Christensen, Lucas A Salas, Lauren C Peres

Faculty, Staff and Student Publications

Introduction: Retrotransposons (REs) constitute nearly half of the genome and include long terminal repeat (LTR) elements, Long INterspersed Elements (LINE), and Short INterspersed Elements (SINE). REs are typically silenced in somatic tissues via DNA methylation but can be reactivated through DNA hypomethylation, potentially impacting gene regulation. Here, we investigate genome-scale profiles of RE methylation in high-grade serous ovarian carcinoma (HGSOC) and associations with survival among Black women.

Methods: Methylation levels of LTR, LINE-1, and Alu (type of SINE) in 200 HGSOC tumors were predicted using a random forest approach and clustered using multiple consensus algorithms. Associations between RE methylation clusters …

Optimal Treatment Duration In Metastatic Renal Cell Carcinoma Patients Responding To Immune Checkpoint Inhibitors: Should We Treat Beyond Two Years?, Alexander Decruyenaere, Gennigens Christine, Rottey Sylvie, Laenen Annouschka, Emmanuel Seront, Els Everaert, Philip R Debruyne, Heidi Van Den Bulck, Julie Bastin, Verbiest Annelies, Christof Vulsteke, Peter Schatteman, Daisy Luyten, Sandrine Aspeslagh, Nieves Martinez-Chanza, Marlies De Bock, Thomas Meyskens, Jolanda Verheezen, Barbara Brouwers, Benoit Beuselinck

School of Nursing and Midwifery

BACKGROUND AND PURPOSE: Optimal treatment duration is unknown in metastatic renal cell carcinoma (mRCC) responding to immune checkpoint inhibitors (ICPIs). Prolonged treatment can lead to late toxicity, burden for day clinics and financial impact.

PATIENTS AND METHODS: This multicenter retrospective study included mRCC patients responding to ipilimumab/nivolumab in first-line or nivolumab in later lines, who were treated for at least 21 months and did not stop for toxicity. Progression-free survival (PFS), overall survival (OS), and cancer-specific survival (CSS) were modeled non- and semi-parametrically. The effect of elective ICPI discontinuation (i.e. treatment interruption at the clinician's discretion) between 21 and 25 …

Effects Of Neoadjuvant Immunotherapy On Hearing In Patients With Head And Neck Squamous Cell Carcinoma, Bryce Hambach, Anhelina Bilokon, John Lee, L. Noelle Allemang, Jennifer Chisholm, Chris K. Zalewski, Julie Christensen, Carmen C. Brewer, James L. Gulley, Clint T. Allen, Lisa L. Cunningham, Katharine A. Fernandez

SKMC Student Presentations and Publications

Immune checkpoint blockade (ICB) is a commonly used treatment modality for cancer with a growing list of oncologic indications. Ototoxicity is a potential immune-related adverse event of ICB treatment, but the risk of hearing loss after ICB remains unknown. This retrospective chart review sought to identify individuals who received ICB and had available audiometric data before and after treatment in order to identify clinically meaningful changes in hearing. This single center, institutional chart review examined hearing function data in patients who underwent audiometry before and after ICB treatment. Measures included pure tone thresholds, distortion product otoacoustic emissions (DPOAEs), tympanometry, and …

Refinement Of Hyams Grading Criteria For Olfactory Neuroblastoma In An Endoscopic Sinus Surgery Predominant Cohort With Extended Follow-Up: Worth The Effort?, Stacey Gargano, Vincent Cracolici, Carl Snyderman, Eric Wang, Garret Choby, Aron Pollack, Paul Gardner, Diana Bell, Raja Seethala

Computational Medicine Center Faculty Papers

BACKGROUND: Hyams grading is considered prognostic in olfactory neuroblastoma (ONB), but grading criteria are subjective and predate modern classification and surgical approach. We evaluate the application of granular grading criteria to an endoscopic surgery predominant cohort with extended follow-up.

METHODS: 78 ONB patients were identified (1994-2019) with original diagnoses dating to 1979. Original Hyams grade, Modified Hyams grade incorporating more detailed criteria and other histologic features (i.e. divergent differentiation, clear cell/oncocytic change, and spindling) were assessed if feasible, evaluated for distribution by grade and correlated with outcomes.

RESULTS: Original Hyams grade (n = 43) distribution was: I: 4 (9%), II: …