Medical Specialties Commons^™

Convolutional Neural Networks To Study Contrast-Enhanced Magnetic Resonance Imaging-Based Skeletal Calf Muscle Perfusion In Peripheral Artery Disease, Bijen Khagi, Tatiana Belousova, Christina M Short, Addison A Taylor, Jean Bismuth, Dipan J Shah, Gerd Brunner

Faculty, Staff and Students Publications

Peripheral artery disease (PAD) is associated with impaired blood flow in the lower extremities and histopathologic changes of the skeletal calf muscles, resulting in abnormal microvascular perfusion. We studied the use of convolution neural networks (CNNs) to differentiate patients with PAD from matched controls using perfusion pattern features from contrast-enhanced magnetic resonance imaging (CE-MRI) of the skeletal calf muscles. We acquired CE-MRI based skeletal calf muscle perfusion in 56 patients (36 patients with PAD and 20 matched controls). Microvascular perfusion imaging was performed after reactive hyperemia at the midcalf level, with a temporal resolution of 409 ms. We analyzed perfusion …

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 …

New Approaches To Triglyceride Reduction: Is There Any Hope Left?, Annalisa Filtz, Siddhant Parihar, Garred S Greenberg, Christine M Park, Andrea Scotti, Daniel Lorenzatti, Juan J Badimon, Daniel E Soffer, Peter P Toth, Carl J Lavie, Vera Bittner, Salim S Virani, Leandro Slipczuk

Faculty, Staff and Students Publications

Triglycerides play a crucial role in the efficient storage of energy in the body. Mild and moderate hypertriglyceridemia (HTG) is a heterogeneous disorder with significant association with atherosclerotic cardiovascular disease (ASCVD), including myocardial infarction, ischemic stroke, and peripheral artery disease and represents an important component of the residual ASCVD risk in statin treated patients despite optimal low-density lipoprotein cholesterol reduction. Individuals with severe HTG (>1,000 mg/dL) rarely develop atherosclerosis but have an incremental incidence of acute pancreatitis with significant morbidity and mortality. HTG can occur from a combination of genetic (both mono and polygenic) and environmental factors including poor …

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 …

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 …

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 …

Unveiling Microbial Diversity: Harnessing Long-Read Sequencing Technology, Daniel P Agustinho, Yilei Fu, Vipin K Menon, Ginger A Metcalf, Todd J Treangen, Fritz J Sedlazeck

Faculty, Staff and Students Publications

Long-read sequencing has recently transformed metagenomics, enhancing strain-level pathogen characterization, enabling accurate and complete metagenome-assembled genomes, and improving microbiome taxonomic classification and profiling. These advancements are not only due to improvements in sequencing accuracy, but also happening across rapidly changing analysis methods. In this Review, we explore long-read sequencing's profound impact on metagenomics, focusing on computational pipelines for genome assembly, taxonomic characterization and variant detection, to summarize recent advancements in the field and provide an overview of available analytical methods to fully leverage long reads. We provide insights into the advantages and disadvantages of long reads over short reads and …

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

Faculty, Staff and Students Publications

No abstract provided.

Neighborhood-Level Disadvantage And Delayed Adjuvant Therapy In Head And Neck Cancer, Evan M Graboyes, Joshua Lee Cagle, Salma Ramadan, Kavita Prasad, Flora Yan, John Pearce, Angela L Mazul, Jean-Sebastien Anoma, Elizabeth G Hill, Bhisham S Chera, Sidharth V Puram, Ryan Jackson, Vlad C Sandulache, Samantha Tam, Michael C Topf, Russel Kahmke, Nosayaba Osazuwa-Peters, Brian Nussenbaum, Anthony J Alberg, Katherine R Sterba, Chanita Hughes Halbert

Faculty, Staff and Students Publications

Importance: For patients with head and neck squamous cell carcinoma (HNSCC), initiation of postoperative radiation therapy (PORT) within 6 weeks of surgery is recommended by the National Comprehensive Cancer Network Guidelines and the Commission on Cancer. Although individual-level measures of socioeconomic status are associated with receipt of timely, guideline-adherent PORT, the role of neighborhood-level disadvantage has not been examined.

Objective: To characterize the association of neighborhood-level disadvantage with delays in receiving PORT.

Design, setting, and participants: This retrospective cohort study included 681 adult patients with HNSCC undergoing curative-intent surgery and PORT from 2018 to 2020 at 4 US academic medical …

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 …

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 …

Expanding The Phenotype Of Ppp1r21-Related Neurodevelopmental Disorder, Mohammed Almannai, Dana Marafi, Maha S Zaki, Reza Maroofian, Stephanie Efthymiou, Nebal Waill Saadi, Bilal Filimban, Hormos Salimi Dafsari, Fatima Rahman, Shazia Maqbool, Eissa Faqeih, Fuad Al Mutairi, Hind Alsharhan, Omar Abdelaty, Saadoun Bin-Hasan, Ruizhi Duan, Mahmoud M Noureldeen, Alaa Alqattan, Henry Houlden, Jill V Hunter, Jennifer E Posey, James R Lupski, Ayman W El-Hattab

Faculty, Staff and Students Publications

PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of …

Interfacility Referral Communication For Picu Transfer, Caitlin K Thirnbeck, Elizabeth T Espinoza, Elizabeth A Beaman, Alexis L Rozen, Kimberly C Dukes, Hardeep Singh, Loreen A Herwaldt, Christopher P Landrigan, Heather Schacht Reisinger, Christina L Cifra

Faculty, Staff and Students Publications

Objectives: For patients requiring transfer to a higher level of care, excellent interfacility communication is essential. Our objective was to characterize verbal handoffs for urgent interfacility transfers of children to the PICU and compare these characteristics with known elements of high-quality intrahospital shift-to-shift handoffs.

Design: Mixed methods retrospective study of audio-recorded referral calls between referring clinicians and receiving PICU physicians for urgent interfacility PICU transfers.

Setting: Academic tertiary referral PICU.

Patients: Children 0-18 years old admitted to a single PICU following interfacility transfer over a 4-month period (October 2019 to January 2020).

Interventions: None.

Measurements and main results: We reviewed …

Rural Veterans With Hiv And Alcohol Use Disorder Receive Less Video Telehealth Than Urban Veterans, Alan Z Sheinfil, Giselle Day, Annette Walder, Julianna Hogan, Thomas P Giordano, Jan Lindsay, Anthony Ecker

Faculty, Staff and Students Publications

Purpose: Alcohol use disorder (AUD) is highly prevalent among Veterans with HIV. Rural Veterans with HIV are at especially high risk for not receiving appropriate treatment. This retrospective cohort cross-sectional study aimed to investigate patterns of mental health treatment utilization across delivery modality among Veterans diagnosed with HIV and AUD. It was hypothesized that rural Veterans with HIV and AUD would receive a lower rate of mental health treatment delivered via video telehealth than urban Veterans with HIV and AUD.

Methods: A national Veterans Health Association administrative database was used to identify a cohort of Veterans diagnosed with HIV and …

A Large Pilar Sheath Acanthoma Of The Cheek Successfully Treated With Surgical Excision, Yelena Dokic, Maria S Bloomquist, Hafeez Diwan, Omid Jalali, Jennifer S Ranario

Faculty, Staff and Students Publications

This case report describes an atypically large pilar sheath acanthoma (PSA) presenting on a patient's cheek. Due to the bothersome nature of the lesion, the patient underwent surgical excision, with subsequent histopathological analysis confirming the diagnosis of an unusually large PSA. In addition to a definitive diagnosis, surgical excision provided symptomatic relief for the patient.

Bacillary Angiomatosis In A Patient With Hiv And Disseminated Mycobacterium Avium Complex Infection, Ibeth P Caceres, Angelique Ruml, Rubi Montejano, Omid Jalali, Theodore Rosen

Faculty, Staff and Students Publications

Bartonella is a genus of arthropod-borne bacterial pathogens that typically cause persistent infections of erythrocytes and endothelial cells in mammalian hosts. The species that primarily infect humans are Bartonella henselae and Bartonella quintana. Depending on immune status, the clinical presentation of B. henselae may differ, manifesting as cat-scratch disease in immunocompetent individuals or bacillary angiomatosis (BA) and peliosis in immunocompromised patients. The cutaneous manifestations of BA are typically characterized by occasionally painful, angiomatous papules and nodules, often with a chronic, persistent course. Herein, we present a case of biopsy-confirmed B. henselae infection in a 32-year-old HIV-positive female with acquired immunodeficiency …

Challenges And Implications For Substance Use And Mental Healthcare Among Under-Resourced Women In The Covid-19 Era, Maria C Mejia, Alicia Kowalchuk, Sandra J Gonzalez, Muktha Nair, Lisa Webb, Nadine Scamp

Faculty, Staff and Students Publications

BACKGROUND: The COVID-19 pandemic exacerbated disparities in mental healthcare and substance use disorder (SUD) treatment access, especially in under-resourced communities. This study aimed to comprehend the experiences of under-resourced women with SUD during the pandemic, their knowledge and attitudes toward it, and its impact on substance use and treatment access.

METHODS: A cross-sectional study included 66 under-resourced women receiving medically managed withdrawal treatment at a community residential SUD center. Data collection occurred between November 2021 and August 2022, utilizing a 75-item instrument covering COVID-19 exposure and its impact on health, substance use, treatment access, vaccination status, beliefs, and knowledge. Descriptive …

Resident-As-Teacher: Can It Be Done With An E-Learning Module?, Bani M Ratan, Sherita J Love, Anna E Rueda, Glenn C Bridges, Wesley A Mayer, Mark J Harbott, Teri L Turner

Faculty, Staff and Students Publications

Associated Data

Intravascular Imaging-Guided Versus Coronary Angiography-Guided Complex Pci: A Meta-Analysis Of Randomized Controlled Trials, Mohamed Hamed, Sheref Mohamed, Mohamed Mahmoud, Jonathan Kahan, Amr Mohsen, Faisal Rahman, Waleed Kayani, Fernando Alfonso, Emmanuel S Brilakis, Islam Y Elgendy, Mamas A Mamas, Ayman Elbadawi

Faculty, Staff and Students Publications

INTRODUCTION: Trials evaluating the role of intravascular imaging in percutaneous coronary intervention (PCI) for complex coronary artery disease have yielded mixed results. This study aimed to compare the outcomes of intravascular imaging specifically intravascular ultrasound (IVUS) with those from conventional coronary angiography in complex PCI.

METHODS: Comprehensive electronic search of MEDLINE, EMBASE, and Cochrane databases was performed until March 2023 for randomized clinical trials (RCTs) comparing intravascular imaging with coronary angiography in patients undergoing complex PCI. Complex PCI was defined per each study, and included PCI for American College of Cardiology/American Heart Association (ACC/AHA) type B2/C lesions, unprotected left main …

Cystatin C Use For Ckd Detection In The Veterans Health Administration System: A Qualitative Study Of Barriers And Facilitators, Julio A Lamprea-Montealegre, Abigail Shapiro, Natalie A B Bontrager, Dena E Rifkin, Simerjot K Jassal, Lucile Parker Gregg, Sankar D Navaneethan, Krista Navarra, Michael G Shlipak, Michelle M Estrella, Virginia Wang

Faculty, Staff and Students Publications

RATIONALE & OBJECTIVE: The measurement of cystatin C has been recommended to enhance chronic kidney disease (CKD) detection and risk stratification in clinical practice. This study gathered insights into the perceptions and experiences of clinical staff regarding the use of cystatin C in CKD detection within the Veterans Health Administration (VHA) system.

STUDY DESIGN: A qualitative approach was employed to explore barriers and facilitators of clinical staff regarding the use of cystatin C in CKD detection within the VHA system. The Organizational Theory of Implementation Effectiveness informed the development of a semistructured interview guide.

SETTING & PARTICIPANTS: Health care providers, …

Specific Gravity Improves Identification Of Clinically Significant Quantitative Proteinuria From The Dipstick Urinalysis, Meredith C Mcadams, L Parker Gregg, Pin Xu, Song Zhang, Michael Li, Ella Carroll, Vaishnavi Kannan, Duwayne L Willett, S Susan Hedayati

Faculty, Staff and Students Publications

KEY POINTS: Urine albumin-to-creatinine ratio and urine protein-to-creatinine ratio are frequently obtained and represent possible tools for screening for proteinuria and thus early CKD. Adding specific gravity to dipstick proteinuria improves the ability to screen patients with clinically significant proteinuria and can be used to identify patients with early CKD.

BACKGROUND: CKD is often underdiagnosed during early stages when GFR is preserved because of underutilization of testing for quantitative urine albumin-to-creatinine ratio (UACR) or urine protein-to-creatinine ratio (UPCR). Semiquantitative dipstick proteinuria (DSP) on urinalysis is widely obtained but not accurate for identifying clinically significant proteinuria.

METHODS: We identified all patients …

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 …

Kcnk1 Promotes Proliferation And Metastasis Of Breast Cancer Cells By Activating Lactate Dehydrogenase A (Ldha) And Up-Regulating H3k18 Lactylation, Xiangchan Hou, Jiawei Ouyang, Le Tang, Pan Wu, Xiangying Deng, Qijia Yan, Lei Shi, Songqing Fan, Chunmei Fan, Can Guo, Qianjin Liao, Yong Li, Wei Xiong, Guiyuan Li, Zhaoyang Zeng, Fuyan Wang

Faculty, Staff and Students Publications

Breast cancer is the most prevalent malignancy and the most significant contributor to mortality in female oncology patients. Potassium Two Pore Domain Channel Subfamily K Member 1 (KCNK1) is differentially expressed in a variety of tumors, but the mechanism of its function in breast cancer is unknown. In this study, we found for the first time that KCNK1 was significantly up-regulated in human breast cancer and was correlated with poor prognosis in breast cancer patients. KCNK1 promoted breast cancer proliferation, invasion, and metastasis in vitro and vivo. Further studies unexpectedly revealed that KCNK1 increased the glycolysis and lactate production in …

A Phase 1/2 Study Of Pepinemab In Children, Adolescents, Or Young Adults With Recurrent Or Refractory Solid Tumors: A Children’S Oncology Group Consortium Report (Advl1614), Emily Greengard, Robin Williams, Branden Moriarity, Xiaowei Liu, Charles G Minard, Joel M Reid, Terrence Fisher, Elizabeth Evans, Desa Rae Pastore, Maurice Zauderer, Stephan Voss, Elizabeth Fox, Brenda J Weigel

Faculty, Staff and Students Publications

PURPOSE: Pepinemab, a humanized IgG4 monoclonal antibody, targets the SEMA4D (CD100) antigen to inhibit binding to its high-affinity receptors (plexin B1/PLXNB1, plexin B2/PLXNB2) and low-affinity receptor (CD72). SEMA4D blockade leads to increased cytotoxic T-cell infiltration, delayed tumor growth, and durable tumor rejection in murine tumor models. Pepinemab was well tolerated and improved T cell infiltration in clinical studies in adults with refractory tumors. SEMA4D was identified as a strong candidate proto-oncogene in a model of osteosarcoma. Based on these preclinical and clinical data, we conducted a phase 1/2 study to determine the recommended phase 2 dose (RP2D), pharmacokinetics, pharmacodynamics, and …

Covid-19 Ethics: Unique Aspects And A Review As Of Early 2024, Wayne X Shandera

Faculty, Staff and Students Publications

COVID-19 presents a variety of ethical challenges in a set of arenas, arenas not always considered in past pandemics. These challenges include issues related to autonomy, distributive ethics, and the establishment of policies of equity and justice. Methods are a literature review based on regular editing of an online textbook during the COVID-19 outbreak and a literature review using key ethical terms. Patients are confronted with new issues related to autonomy. Providers need to expand their concepts of ethical issues to include decisions based on proportionality and public health ethics. The public health sector needs to assess the beneficence of …

Autologous Her2-Specific Car T Cells After Lymphodepletion For Advanced Sarcoma: A Phase 1 Trial, Meenakshi Hegde, Shoba Navai, Christopher Derenzo, Sujith K Joseph, Khaled Sanber, Mengfen Wu, Ahmed Z Gad, Katherine A Janeway, Matthew Campbell, Dolores Mullikin, Zeid Nawas, Catherine Robertson, Pretty R Mathew, Huimin Zhang, Birju Mehta, Raksha R Bhat, Angela Major, Ankita Shree, Claudia Gerken, Mamta Kalra, Rikhia Chakraborty, Sachin G Thakkar, Olga Dakhova, Vita S Salsman, Bambi Grilley, Natalia Lapteva, Adrian Gee, Gianpietro Dotti, Riyue Bao, Ahmed Hamed Salem, Tao Wang, Malcolm K Brenner, Helen E Heslop, Winfried S Wels, M John Hicks, Stephen Gottschalk, Nabil Ahmed

Faculty, Staff and Students Publications

In this prospective, interventional phase I study (NCT00902044) for patients with advanced sarcoma, we infused autologous HER2-specific chimeric antigen receptor T-cells (HER2-CART) after lymphodepletion with cyclophosphamide (Cy) +/− fludarabine (Flu): 1×108 T-cells/m2 after Flu (cohort A) or Flu/Cy (cohort B), and 1×108 CAR-positive T-cells/m2 after Flu/Cy (cohort C). The primary outcome was assessment of safety of one dose of HER2-CART after lymphodepletion. The determination of antitumor responses was the secondary outcome. Thirteen patients were treated in 14 enrollments with 7 receiving multiple infusions. HER2-CART expanded after 19 of 21 infusions. Nine of 12 patients in cohorts A and …

Improving Access To Exome Sequencing In A Medically Underserved Population Through The Texome Project, Blake Vuocolo, Ryan J German, Seema R Lalani, Chaya N Murali, Carlos A Bacino, Stephanie Baskin, Rebecca Littlejohn, John D Odom, Scott Mclean, Carrie Schmid, Morgan Nutter, Melissa Stuebben, Emily Magness, Olivia Juarez, Dina El Achi, Bailey Mitchell, Kevin E Glinton, Laurie Robak, Sandesh C S Nagamani, Lisa Saba, Adasia Ritenour, Lilei Zhang, Haley Streff, Katie Chan, K Jordan Kemere, Kent Carter, Texome Project, Nichole Owen, Liesbeth Vossaert, Pengfei Liu, Hugo Bellen, Michael F Wangler

Faculty, Staff and Students Publications

PURPOSE: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing.

METHODS: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project.

RESULTS: We highlight the Texome Project process and describe the outcomes of the first 60 ES results for study participants. Participants received a genetic evaluation, ES, and return …

Risk Factors For Early Mortality From Lung Cancer: Evolution Over The Last 20 Years In The French Nationwide Kbp Cohorts, T C T Hoang, D Debieuvre, A-S Bravard, S Martinez, G Le Garff, S Jeandeau, L Petit, D Marquette, K Amrane, P Demontrond, M Tiercin, B Jarjour, A Turlotte, P Masson, M Jaafar, P-A Hauss, H Morel

Faculty, Staff and Students Publications

BACKGROUND: The impact of the most recent advances, including targeted therapies and immune checkpoint inhibitors, on early (3-month) mortality in lung cancer is unknown. The aims of this study were to evaluate the real-world rate of and risk factors for early mortality, as well as trends in early mortality over the last 20 years.

MATERIALS AND METHODS: The KBP prospective observational multicenter studies have been conducted every 10 years since 2000. These studies collect data on all newly diagnosed patients with lung cancer (all stages and histologies) over 1 year in non-academic public hospital pulmonology or oncology units in France. …

Two Cases Of Pigmented Basal Cell Carcinoma In African American Patients, Angelique Ruml, Joan K Fernandez, Ibeth Caceres, Nisha Ramani, Ida Orengo, Theodore Rosen

Faculty, Staff and Students Publications

Basal cell carcinoma (BCC) is the most common cutaneous malignancy, comprising approximately 80% of non-melanoma skin cancers. There are numerous subtypes, including pigmented basal cell carcinoma (pBCC), a rare clinical and histological variant. Skin cancers in African American patients, although rare, still do occur. BCC is an uncommon neoplasm in this population, but when it does occur, pigmentation is present in more than 50% of tumors compared with only 5% to 6% of BCCs in Caucasians. This report presents two cases of histologically verified pBCC in African American patients from dermatology clinics at the Veterans Affairs Hospital located in the …