Medicine and Health Sciences Commons^™

An Ethical Approach To Genomic Privacy Preserving Technology Development, Lynette Hammond Gerido, Erman Ayday

Faculty, Staff and Student Publications

Demand for genomic research data and genetic testing results from cancer patients has grown exponentially. When a patient is diagnosed with a hereditary cancer syndrome, standard practice is for providers to encourage patients to discuss their results with their relatives and encourage those relatives to have clinical genetic testing and possibly participate in genetic research. Genomic research data and genetic testing results are being shared and connected in ways never imagined. Genomic data sharing is critical for advancing precision health and increasing diversity in global genome databases. However, these advancements often come with undesirable consequences, which call for additional privacy …

Multi-Task Deep Neural Networks For Irregularly Sampled Multivariate Clinical Time Series, Yuxi Liu, Zhenhao Zhang, Shaowen Qin, Jiang Bian

Faculty, Staff and Student Publications

Multivariate clinical time series data, such as those contained in Electronic Health Records (EHR), often exhibit high levels of irregularity, notably, many missing values and varying time intervals. Existing methods usually construct deep neural network architectures that combine recurrent neural networks and time decay mechanisms to model variable correlations, impute missing values, and capture the impact of varying time intervals. The complete data matrices thus obtained from the imputation task are used for downstream risk prediction tasks. This study aims to achieve more desirable imputation and prediction accuracy by performing both tasks simultaneously. We present a new multi-task deep neural …

Evaluating Generative Models In Medical Imaging, Liyue Fan, Ashley Bang, Luca Bonomi

Faculty, Staff and Student Publications

Data synthesis can address important data availability challenges in biomedical informatics. Quantitative evaluation of generative models may help understand their applications to synthesizing biomedical data. This poster paper examines state-of-the-art generative models used in medical imaging, such as StyleGAN and DDPM models, and evaluates their performance in learning data manifolds and in the visible features of generated samples. Results show that existing generative models have much to improve based on the studied measures.

Associations Between Longer Leukocyte Telomere Length And Increased Lung Cancer Risk Among Never Smokers In Urban China, Jason Y Y Wong, Xiao-Ou Shu, Wei Hu, Batel Blechter, Jianxin Shi, Kevin Wang, Richard Cawthon, Qiuyin Cai, Gong Yang, Mohammad L Rahman, Bu-Tian Ji, Yutang Gao, Wei Zheng, Nathaniel Rothman, Qing Lan

Faculty, Staff and Student Publications

BACKGROUND: The complex relationship between measured leukocyte telomere length (LTL), genetically predicted LTL (gTL), and carcinogenesis is exemplified by lung cancer. We previously reported associations between longer pre-diagnostic LTL, gTL, and increased lung cancer risk among European and East Asian populations. However, we had limited statistical power to examine the associations among never smokers by gender and histology.

METHODS: To investigate further, we conducted nested case-control analyses on an expanded sample of never smokers from the prospective Shanghai Women's Health Studies (798 cases and 792 controls) and Shanghai Men's Health Studies (161 cases and 162 controls). We broke the case-control …

Advances In The Integration Of Microalgal Communities For Biomonitoring Of Metal Pollution In Aquatic Ecosystems Of Sub-Saharan Africa, Mary Mulenga, Concillia Monde, Todd Johnson, Kennedy O Ouma, Stephen Syampungani

Faculty, Staff and Student Publications

This review elucidated the recent advances in integrating microalgal communities in monitoring metal pollution in aquatic ecosystems of sub-Saharan Africa (SSA). It also highlighted the potential of incorporating microalgae as bioindicators in emerging technologies, identified research gaps, and suggested directions for further research in biomonitoring of metal pollution. Reputable online scholarly databases were used to identify research articles published between January 2000 and June 2023 for synthesis. Results indicated that microalgae were integrated either individually or combined with other bioindicators, mainly macroinvertebrates, macrophytes, and fish, alongside physicochemical monitoring. There was a significantly low level of integration (< 1%) of microalgae for biomonitoring aquatic metal pollution in SSA compared to other geographical regions. Microalgal communities were employed to assess compliance (76%), in diagnosis (38%), and as early-warning systems (38%) of aquatic ecological health status. About 14% of biomonitoring studies integrated microalgal eDNA, while other technologies, such as remote sensing, artificial intelligence, and biosensors, are yet to be significantly incorporated. Nevertheless, there is potential for the aforementioned emerging technologies for monitoring aquatic metal pollution in SSA. Future monitoring in the region should also consider the standardisation and synchronisation of integrative biomonitoring and embrace the "Citizen Science" concept at national and regional scales.

Enhancing Foot Care Education And Support Strategies In Adults With Type 2 Diabetes, Hsiao-Hui Ju, Madelene Ottosen, Jeffery Alford, Jed Jularbal, Constance Johnson

Faculty, Staff and Student Publications

BACKGROUND: People with diabetes are susceptible to serious and disabling foot complications, which increase their morbidity and mortality rates. Examining the perspectives of people with diabetes on their foot care routines could help elucidate their beliefs and offer practical ways to prevent foot problems.

PURPOSE: We explored the perspectives of adults with diabetes on their foot care practices to identify and enhance foot care education and support strategies.

METHODOLOGY: Using the Zoom platform, 29 adults with diabetes completed a 3-month telehealth educational program, during which interviews were conducted. This article reports the results of thematic content analysis of the qualitative …

Radiogenomics-Based Risk Prediction Of Glioblastoma Multiforme With Clinical Relevance, Xiaohua Qian, Hua Tan, Xiaona Liu, Weiling Zhao, Michael D Chan, Pora Kim, Xiaobo Zhou

Faculty, Staff and Student Publications

Glioblastoma multiforme (GBM)is the most common and aggressive primary brain tumor. Although temozolomide (TMZ)-based radiochemotherapy improves overall GBM patients' survival, it also increases the frequency of false positive post-treatment magnetic resonance imaging (MRI) assessments for tumor progression. Pseudo-progression (PsP) is a treatment-related reaction with an increased contrast-enhancing lesion size at the tumor site or resection margins miming tumor recurrence on MRI. The accurate and reliable prognostication of GBM progression is urgently needed in the clinical management of GBM patients. Clinical data analysis indicates that the patients with PsP had superior overall and progression-free survival rates. In this study, we aimed …

Anoctamin 4 Defines Glucose-Inhibited Neurons In The Ventromedial Hypothalamus, Longlong Tu, Yanlin He, Yong Xu

Faculty, Staff and Students Publications

No abstract provided.

Hyperkinetic Movement Disorder Caused By The Recurrent C892c>T Nacc1 Variant, Jonna Komulainen-Ebrahim, Salla M Kangas, Estrella López-Martín, Timothy Feyma, Fernando Scaglia, Beatriz Martínez-Delgado, Outi Kuismin, Maria Suo-Palosaari, Lucinda Carr, Reetta Hinttala, Manju A Kurian, Johanna Uusimaa

Faculty, Staff and Students Publications

BACKGROUND: Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens-associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency.

OBJECTIVES: The objective is to characterize the movement disorder in affected patients with the recurrent c.892C>T NACC1 variant and study the NACC1 protein and mitochondrial function at the cellular level.

METHODS: The movement disorder was analyzed on four patients with the NACC1 c.892C>T (p.Arg298Trp) variant. Studies on NACC1 protein and mitochondrial function …

Nk Cells As Powerful Therapeutic Tool In Cancer Immunotherapy, Mao Huang, Yixuan Liu, Qijia Yan, Miao Peng, Junshang Ge, Yongzhen Mo, Yumin Wang, Fuyan Wang, Zhaoyang Zeng, Yong Li, Chunmei Fan, Wei Xiong

Faculty, Staff and Students Publications

Background: Natural killer (NK) cells have gained considerable attention and hold great potential for their application in tumor immunotherapy. This is mainly due to their MHC-unrestricted and pan-specific recognition capabilities, as well as their ability to rapidly respond to and eliminate target cells. To artificially generate therapeutic NK cells, various materials can be utilized, such as peripheral blood mononuclear cells (PBMCs), umbilical cord blood (UCB), induced pluripotent stem cells (iPSCs), and NK cell lines. Exploiting the therapeutic potential of NK cells to treat tumors through in vivo and in vitro therapeutic modalities has yielded positive therapeutic results.

Conclusion: This review …

Patient- And System-Level Factors Associated With Racial/Ethnic Disparities In The Delivery Of Guideline-Concordant Therapy Among Us Patients With Gastric Cancer, Wilson L Da Costa, Mimi C Tan, E Ramsay Camp, Aaron P Thrift

Faculty, Staff and Students Publications

Background: Disparities in gastric cancer (GC) outcomes show a higher disease burden among minorities. We aimed to evaluate the associations between sociodemographic and system-level factors and guideline-concordant treatment among GC patients.

Methods: Cohort study with GC patients in the National Cancer Data Base (2006-2018) treated with upfront resection or neoadjuvant therapy (NAT). We used logistic regression to identify associations between deviations from guideline-concordant therapy and patient- and system-level factors, and Cox regression models to assess risk of death.

Results: The cohort included 43 597 GC patients treated with endoscopic resection (8.9%), surgery only (47.1%), surgery and adjuvant therapy (20.6%), or …

Predicting Mortality Within 1 Year Of Art Initiation In Children And Adolescents Living With Hiv In Sub-Saharan Africa: A Retrospective Observational Cohort Study, Alexander Kay, Bhekumusa Lukhele, Sandile Dlamini, Abigail Seeger, Phumzile Dlamini, Sandile Ndabezitha, Nobuhle Mthethwa, Teresa Steffy, Lilian Komba, Pauline Amuge, Eunice Ketangenyi, Peter Elyanu, Adamson Munthali, Amos Msekandiana, Yvonne Maldonado, Elizabeth Chiao, Adeodata Kekitiinwa, Lineo Thahane, Lumumba Mwita, H Lester Kirchner, Anna Maria Mandalakas

Faculty, Staff and Students Publications

BACKGROUND: Differentiated service delivery (DSD) for children and adolescents living with HIV can improve targeted resource use. We derived a mortality prediction score to guide clinical decision making for children and adolescents living with HIV.

METHODS: Data for this retrospective observational cohort study were evaluated for all children and adolescents living with HIV and initiating antiretroviral therapy (ART); aged 0-19 years; and enrolled at Baylor clinics in Eswatini, Malawi, Lesotho, Tanzania, and Uganda between 2005 and 2020. Data for clinical prediction, including anthropometric values, physical examination, ART, WHO stage, and laboratory tests were captured at ART initiation. Backward stepwise variable …

Associations Between Social Determinants Of Health And Cardiovascular Health Of Us Adult Cancer Survivors, Danish Iltaf Satti, Jeffrey Shi Kai Chan, Edward Christopher Dee, Yan Hiu Athena Lee, Abraham Ka Chung Wai, Sourbha S Dani, Salim S Virani, Michael D Shapiro, Garima Sharma, Tong Liu, Gary Tse

Faculty, Staff and Students Publications

Background: Relationships between the social determinants of health (SDOH) and cardiovascular health (CVH) of cancer survivors are underexplored.

Objectives: This study sought to investigate associations between the SDOH and CVH of adult cancer survivors.

Methods: Data from the U.S. National Health Interview Survey (2013-2017) were used. Participants reporting a history of cancer were included, excluding those with only nonmelanotic skin cancer, or with missing data for any domain of SDOH or CVH. SDOH was quantified with a 6-domain, 38-item score, consistent with the Centers for Disease Control and Prevention recommendations (higher score indicated worse deprivation). CVH was quantified based on …

Statin Utilization And Cardiovascular Outcomes In A Real-World Primary Prevention Cohort Of Older Adults, Aaron J Walker, Jianhui Zhu, Floyd Thoma, Oscar Marroquin, Amber Makani, Martha Gulati, Eugenia Gianos, Salim S Virani, Fatima Rodriguez, Steven E Reis, Christie Ballantyne, Suresh Mulukutla, Anum Saeed

Faculty, Staff and Students Publications

Background: Statins are a cost-effective therapy for prevention of atherosclerotic cardiovascular disease (ASCVD). Guidelines on statins for primary prevention are unclear for older adults (>75 years).

Objective: Investigate statin utility in older adults without ASCVD events, by risk stratifying in a large healthcare network.

Methods: We included 8,114 older adults, without CAD, PVD or ischemic stroke. Statin utilization based on ACC/AHA 10-year ASCVD risk calculation, was evaluated in intermediate (7.5%-19.9%) and high-risk patients (≥ 20%); and categorized using low and 'moderate or high' intensity statins with a follow up period of ∼7 years. Cox regression models were used to …

Generation Of A Humanized Mace2 And A Conditional Hace2 Mouse Models Permissive To Sars-Cov-2 Infection, I-Wen Song, Megan Washington, Carolina Leynes, Jason Hsu, Kempaiah Rayavara, Yangjin Bae, Nele Haelterman, Yuqing Chen, Ming-Ming Jiang, Aleksandra Drelich, Vivian Tat, Denise G Lanza, Isabel Lorenzo, Jason D Heaney, Chien-Te Kent Tseng, Brendan Lee, Ronit Marom

Faculty, Staff and Students Publications

The Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) remains a public health concern and a subject of active research effort. Development of pre-clinical animal models is critical to study viral-host interaction, tissue tropism, disease mechanisms, therapeutic approaches, and long-term sequelae of infection. Here, we report two mouse models for studying SARS-CoV-2: A knock-in mAce2F83Y,H353K mouse that expresses a mouse-human hybrid form of the angiotensin-converting enzyme 2 (ACE2) receptor under the endogenous mouse Ace2 promoter, and a Rosa26 conditional knock-in mouse carrying the human ACE2 allele (Rosa26hACE2). Although the mAce2F83Y,H353K mice were susceptible to …

Continuous Renal Replacement Therapy: Current State And Future Directions For Worldwide Practice, Katja M Gist, Dana Y Fuhrman, Akash Deep, Taiki Haga, Demet Demirkol, Michael J Bell, Ayse Akcan-Arikan

Faculty, Staff and Students Publications

No abstract provided.

Identification Of Sleep Phenotypes In Copd Using Machine Learning-Based Cluster Analysis, Javad Razjouyan, Nicola A Hanania, Sara Nowakowski, Ritwick Agrawal, Amir Sharafkhaneh

Faculty, Staff and Students Publications

BACKGROUND: Disturbed sleep in patients with COPD impact quality of life and predict adverse outcomes.

RESEARCH QUESTION: To identify distinct phenotypic clusters of patients with COPD using objective sleep parameters and evaluate the associations between clusters and all-cause mortality to inform risk stratification.

STUDY DESIGN AND METHODS: A longitudinal observational cohort study using nationwide Veterans Health Administration data of patients with COPD investigated for sleep disorders. Sleep parameters were extracted from polysomnography physician interpretation using a validated natural language processing algorithm. We performed cluster analysis using an unsupervised machine learning algorithm (K-means) and examined the association between clusters and mortality …

18f-Fdg Pet/Ct And Radiolabeled Leukocyte Spect/Ct Imaging For The Evaluation Of Cardiovascular Infection In The Multimodality Context: Asnc Imaging Indications (Asnc I2) Series Expert Consensus Recommendations From Asnc, Aats, Acc, Aha, Ase, Eanm, Hrs, Idsa, Scct, Snmmi, And Sts, Jamieson M Bourque, Ulrika Birgersdotter-Green, Paco E Bravo, Ricardo P J Budde, Wengen Chen, Vivian H Chu, Vasken Dilsizian, Paola Anna Erba, Cesia Gallegos Kattan, Gilbert Habib, Fabien Hyafil, Yiu Ming Khor, Jaimie Manlucu, Pamela Kay Mason, Edward J Miller, Marc R Moon, Matthew W Parker, Gosta Pettersson, Robert D Schaller, Riemer H J A Slart, Jordan B Strom, Bruce L Wilkoff, Adam Williams, Ann E Woolley, Brittany A Zwischenberger, Sharmila Dorbala

Faculty, Staff and Students Publications

This document on cardiovascular infection, including infective endocarditis, is the first in the American Society of Nuclear Cardiology Imaging Indications (ASNC I2) series to assess the role of radionuclide imaging in the multimodality context for the evaluation of complex systemic diseases with multisocietal involvement including pertinent disciplines. A rigorous modified Delphi approach was used to determine consensus clinical indications, diagnostic criteria, and an algorithmic approach to diagnosis of cardiovascular infection including infective endocarditis. Cardiovascular infection incidence is increasing and is associated with high morbidity and mortality. Current strategies based on clinical criteria and an initial echocardiographic imaging approach are effective …

Efemp1 Haploinsufficiency Causes A Marfan-Like Hereditary Connective Tissue Disorder, Irman Forghani, Steven H Lang, Matthew J Rodier, Stephanie A Bivona, Alejo A Morales, Stephan Zuchner, Guney Bademci, Mustafa Tekin

Faculty, Staff and Students Publications

Phenotypic features of a hereditary connective tissue disorder, including craniofacial characteristics, hyperextensible skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal hernia, and diverticulosis associated with biallelic pathogenic variants in EFEMP1 have been previously described in four patients. Genome sequencing on a proband and her mother with comparable phenotypic features revealed that both patients were heterozygous for a stop-gain variant c.1084C>T (p.Arg362*). Complementary RNA-seq on fibroblasts revealed significantly reduced levels of mutant EFEMP1 transcript. Considering the absence of other molecular explanations, we extrapolated that EFEMP1 could be the cause of the patient's phenotypes. Furthermore, nonsense-mediated decay was demonstrated for the mutant allele …

Long-Term Sustained Effects Of The Look Ahead Lifestyle Intervention On Body Composition Among Adults With Type 2 Diabetes, Maxine Ashby-Thompson, Stanley Heshka, Andrea Anderson, Henry Pownall, Blandine Laferrère, Ashok Balasubramanyam, Steven B Heymsfield, Thomas A Wadden, Dympna Gallagher

Faculty, Staff and Students Publications

Objective: The objective of the study was to test whether there are sustained effects of the Look AHEAD intensive lifestyle intervention (ILI), versus diabetes support and education (DSE), on weight and body composition 12 to 16 years after randomization.

Methods: Participants were a subset of enrollees in the Look AHEAD dual-energy x-ray absorptiometry substudy who completed the final visit, composed of men (DSE = 99; ILI = 94) and women (DSE = 134; ILI = 135) with type 2 diabetes and mean (SD) age 57.2 (6.4) years and BMI 34.9 (5.1) kg/m2 at randomization. Dual-energy x-ray absorptiometry measured total and …

Chagasin From Trypanosoma Cruzi As A Molecular Scaffold To Express Epitopes Of Tsa-1 As Soluble Recombinant Chimeras, Rosa Elena Cárdenas-Guerra, Octavio Montes-Flores, Edgar Ezequiel Nava-Pintor, Gerardo Reséndiz-Cardiel, Claudia Ivonne Flores-Pucheta, Yasmín Irene Rodríguez-Gavaldón, Rossana Arroyo, Maria Elena Bottazzi, Peter J Hotez, Jaime Ortega-López

Faculty, Staff and Students Publications

Trypanosoma cruzi is the causative agent of Chagas disease, a global public health problem. New therapeutic drugs and biologics are needed. The TSA-1 recombinant protein of T. cruzi is one such promising antigen for developing a therapeutic vaccine. However, it is overexpressed in E. coli as inclusion bodies, requiring an additional refolding step. As an alternative, in this study, we propose the endogenous cysteine protease inhibitor chagasin as a molecular scaffold to generate chimeric proteins. These proteins will contain combinations of two of the five conserved epitopes (E1 to E5) of TSA-1 in the L4 and L6 chagasin loops. Twenty …

Serum Extracellular Vesicle Protein Profiling For Prediction Of Corneal Transplant Rejection, Hyun Ju Lee, Eun-Hye Bae, Jong Min Choi, Hyemee Kim, Hyeon Ji Kim, Heather Barreda, Sung Yun Jung, Joo Youn Oh, Ryang Hwa Lee

Faculty, Staff and Students Publications

Background: Corneal transplantation is the most common transplant procedure worldwide. Despite immune and angiogenic privilege of the cornea, 50% to 70% of corneal transplants fail in high-risk recipients, primarily because of immune rejection. Therefore, it is crucial to identify predictive biomarkers of rejection to improve transplant survival.

Methods: In search for predictive biomarkers, we performed proteomics analysis of serum extracellular vesicles (EVs) in a fully major histocompatibility complex-mismatched (C57BL/6-to-BALB/c) murine corneal transplantation model, wherein 50% of transplants undergo rejection by day 28 following transplantation.

Results: Our time course study revealed a decrease in the number of serum EVs on day …

Grafting The Alfa Tag For Structural Studies Of Aquaporin Z, Lauren Stover, Hanieh Bahramimoghaddam, Lie Wang, Samantha Schrecke, Gaya P Yadav, Ming Zhou, Arthur Laganowsky

Faculty, Staff and Students Publications

Aquaporin Z (AqpZ), a bacterial water channel, forms a tetrameric complex and, like many other membrane proteins, activity is regulated by lipids. Various methods have been developed to facilitate structure determination of membrane proteins, such as the use of antibodies. Here, we graft onto AqpZ the ALFA tag (AqpZ-ALFA), an alpha helical epitope, to make use of the high-affinity anti-ALFA nanobody (nB). Native mass spectrometry reveals the AqpZ-ALFA fusion forms a stable, 1:1 complex with nB. Single-particle cryogenic electron microscopy studies reveal the octameric (AqpZ-ALFA)

Social Connectedness And Adolescent Suicide Risk, Alejandra Arango, David Brent, Jacqueline Grupp-Phelan, Bradley J Barney, Anthony Spirito, Megan M Mroczkowski, Rohit Shenoi, Melinda Mahabee-Gittens, T Charles Casper, Cheryl King

Faculty, Staff and Students Publications

Background: Despite evidence of the importance of interpersonal connectedness to our understanding of suicide risk, relatively little research has examined the protective and buffering effects of connectedness among adolescents. The aims of this study were to determine: (a) whether overall connectedness (composite of family, peer, and school) and specific domains of connectedness were related to a lower likelihood of suicide attempts, and (b) whether these factors buffer the prospective risk of suicide attempt for high-risk subgroups (i.e., recent suicidal ideation and/or lifetime history of suicide attempt, peer victimization, or sexual and gender minority status).

Methods: Participants were 2,897 adolescents (64.7% …

High Lipoprotein(A): Actionable Strategies For Risk Assessment And Mitigation, Gissette Reyes-Soffer, Calvin Yeang, Erin D Michos, Wess Boatwright, Christie M Ballantyne

Faculty, Staff and Students Publications

High levels of lipoprotein(a) [Lp(a)] are causal for atherosclerotic cardiovascular disease (ASCVD). Lp(a) is the most prevalent inherited dyslipidemia and strongest genetic ASCVD risk factor. This risk persists in the presence of at target, guideline-recommended, LDL-C levels and adherence to lifestyle modifications. Epidemiological and genetic evidence supporting its causal role in ASCVD and calcific aortic stenosis continues to accumulate, although various facets regarding Lp(a) biology (genetics, pathophysiology, and expression across race/ethnic groups) are not yet fully understood. The evolving nature of clinical guidelines and consensus statements recommending universal measurements of Lp(a) and the scientific data supporting its role in multiple …

Genetic Evaluation For Monogenic Disorders Of Low Bone Mass And Increased Bone Fragility: What Clinicians Need To Know, Emily Busse, Brendan Lee, Sandesh C S Nagamani

Faculty, Staff and Students Publications

Purpose of review: The purpose of this review is to outline the principles of clinical genetic testing and to provide practical guidance to clinicians in navigating genetic testing for patients with suspected monogenic forms of osteoporosis.

Recent findings: Heritability assessments and genome-wide association studies have clearly shown the significant contributions of genetic variations to the pathogenesis of osteoporosis. Currently, over 50 monogenic disorders that present primarily with low bone mass and increased risk of fractures have been described. The widespread availability of clinical genetic testing offers a valuable opportunity to correctly diagnose individuals with monogenic forms of osteoporosis, thus instituting …

Impact Of Spherical Aberration On Visual Quality And Depth Of Focus, Jack T Holladay, Karim Kozhaya, Douglas D Koch, Li Wang

Faculty, Staff and Students Publications

No abstract provided.

Evaluating The Safety And Efficacy Of A Novel Polysaccharide Hemostatic System During Surgery: A Multicenter Multispecialty Prospective Randomized Controlled Trial, Michael G House, Robin Kim, Elaine E Tseng, Ronald P Kaufman, Marc R Moon, Adam Yopp, Viraj A Master

Faculty, Staff and Students Publications

BACKGROUND: Operative blood loss is associated with postoperative morbidity and mortality in surgery. Hemostatic agents are used as adjuncts for hemostasis during surgery and help to prevent postoperative bleeding. We evaluated the safety and efficacy of an investigational polysaccharide hemostatic (PH) topical product compared to a U.S. Food and Drug Administration (FDA)-approved control in clinical use comprising microporous polysaccharide hemospheres (MPH) to achieve hemostasis of bleeding surfaces during surgery.

STUDY DESIGN: This prospective multicenter trial enrolled patients undergoing open elective cardiac, general, or urologic surgery. Patients were stratified by bleeding severity and therapeutic area, then randomized 1:1 to receive PH …

Loss-Of-Function Variants In Ubap1l Cause Autosomal Recessive Retinal Degeneration, Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Mathieu Quinodoz, Molly Marra, Sandrine Wallerich, Gilad Allon, Zoltán Z Nagy, Krisztina Knézy, Yumei Li, Rui Chen, Mirella Telles Salgueiro Barboni, Paul Yang, Mark E Pennesi, L Ingeborgh Van Den Born, Balázs Varsányi, Viktória Szabó, Dror Sharon, Eyal Banin, Tamar Ben-Yosef, Susanne Roosing, Robert K Koenekoop, Carlo Rivolta

Faculty, Staff and Students Publications

Purpose: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs.

Methods: Patients underwent a comprehensive ophthalmological evaluation using standard-of-care tests, such as detailed retinal imaging (macular optical coherence tomography and short-wavelength fundus autofluorescence) and electrophysiological testing. Exome and genome sequencing, as well as computer-assisted data analysis were used for genotyping and detection of DNA variants. A minigene-driven splicing assay was performed …

Racial And Ethnic Disparities In Cardiovascular Disease – Analysis Across Major Us National Databases, Abdul Mannan Khan Minhas, Khawaja M Talha, Dmitry Abramov, Heather M Johnson, Steve Antoine, Fatima Rodriguez, Marat Fudim, Erin D Michos, Arunima Misra, Layla Abushamat, Vijay Nambi, Gregg C Fonarow, Christie M Ballantyne, Salim S Virani

Faculty, Staff and Students Publications

Background: There are several studies that have analyzed disparities in cardiovascular disease (CVD) health using a variety of different administrative databases; however, a unified analysis of major databases does not exist. In this analysis of multiple publicly available datasets, we sought to examine racial and ethnic disparities in different aspects of CVD, CVD-related risk factors, CVD-related morbidity and mortality, and CVD trainee representation in the US.

Methods: We used National Health and Nutrition Examination Survey, National Ambulatory Medical Care Survey, National Inpatient Sample, Centers for Disease Control and Prevention Wide-Ranging OnLine Data for Epidemiologic Research, United Network for Organ Sharing, …