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Nutrition And Cardiovascular Disease, Sarah Gover, Sarah Gover

Senior Honors Projects

Cardiovascular disease (CVD) remains the leading cause of death globally, with poor dietary habits among its most significant risk factors. While past research has focused on individual nutrients, there is a growing interest in how overall dietary patterns contribute to CVD risk and prevention. This project explores six dietary patterns: vegan, vegetarian, ketogenic, low-fat, intermittent fasting, and Mediterranean. Each diet’s impact on cardiovascular risk factors such as blood pressure, lipid profiles, and inflammation is evaluated, along with their benefits, limitations, and long-term sustainability. Through this investigation, I found that diets rich in fruits, vegetables, whole grains, lean proteins, and healthy …

Improving Nutrition Outcomes Through Enhanced Allocative Efficiency Of Investments In 24 High Risk Counties In Kenya: An Optima Nutrition Modelling Study, Morris Ogero, Nick Scott, Veronica Kirogo, Anthony Ngugi

Population Health, East Africa

Introduction ;Undernutrition remains a significant global challenge, severely impacting children’s development and growth. To address this, the Sustainable Development Goals target a substantial reduction in stunting and wasting by 2025. Achieving these goals requires scaling up evidence-based nutritional interventions; however, limited budgets pose challenges in funding all necessary programs. To assist policymakers in making informed decisions, the World Bank developed the Optima Nutrition Modelling tool, which optimizes the allocation of nutrition investments. Kenya, with its high prevalence of stunting, was the focus of this study. Using the Optima Nutrition model, we aimed to (1) assess the impact of scaling up …

Insights Into Cancer Awareness And Health Practices In Rural Kenya: A Cross-Sectional Study Of Esophageal, Breast, Prostate, Cervical, And Colorectal Cancers, Rosebella Iseme-Ondiek, Joseph Abuodha, Anthony Ngugi, Mansoor Saleh, Innocent Abayo

Population Health, East Africa

PURPOSE; In sub-Saharan Africa (SSA), there has been an epidemiologic transition from infectious diseases to noncommunicable diseases, including a projected doubling in incidence of cancer. Understanding the underlying factors driving this surge is crucial for designing effective strategies to mitigate the cancer burden. This study focuses on assessing knowledge, attitudes, screening practices, and health behaviors related to five most prevalent cancers in SSA: prostate, breast, cervical, esophageal, and colorectal—among a predominantly rural coastal population in Kenya.

MATERIALS AND METHODS ;We used a cross-sectional study design targeting 1,500 adult respondents randomly selected from an existing community health and demographic surveillance system. …

Towards Explainable And Robust Nlp: Neutrosophic Probability Augmentation In Text Classification, Nabil M. Abdel-Aziz, Mahmoud Ibrahim, Khalid A. Eldrandaly

Neutrosophic Systems with Applications

The rapid growth of textual data necessitates advanced text classification models. However, traditional methods struggle with ambiguity and uncertainty in natural language, reducing classification reliability. To address this, we integrate neutrosophic logic, which explicitly models truth, indeterminacy, and falsity, into a DistilBERT-based text classification framework. Additionally, we employ data augmentation using synonym replacement to enhance generalization. Our approach is evaluated on the AG News dataset, classifying articles into four categories: World, Sports, Business, and Science/Technology. By incorporating neutrosophic attributes, the proposed framework assesses text quality, mitigates uncertainty, and improves robustness against ambiguous inputs. Experimental results demonstrate an accuracy of 94.10%, …

Single Valued Neutrosophic Hypersoft Set Based On Merec-Moosra Mcdm Methods For Evolution Of Sustainable Strategies For The Circular Supply Chain Based On The Beverage Industry, Alaa Salem, Rayan Hussein, Ahmed Abdelmouty, Mohamed Abouhawwash

Neutrosophic Systems with Applications

Corporate enterprises around the world are facing increasing pressure to operate sustainably due to rising environmental concerns such as climate change, resource scarcity, and ecological degradation. In response, circular supply chain (CSC) practices have emerged as a promising solution, especially within the manufacturing and beverage sectors. CSC focuses on reusing materials, minimizing waste, and creating value from products that have reached the end of their lifecycle. This study investigates the challenges and opportunities of applying circular supply chain management (CSCM) in the beverage industry, which is known for generating significant waste due to high production volumes. The research identifies key …

A Comparison Of Carbon Ions Versus Protons For Integrated Mode Ion Imaging, Mikaël Simard, Ryan Fullarton, Lennart Volz, Christoph Schuy, Daniel G Robertson, Allison Toltz, Colin Baker, Sam Beddar, Christian Graeff, Charles-Antoine Collins Fekete

Faculty, Staff and Student Publications

Background: Incorporating image guidance into ion beam therapy is critical for minimizing beam range uncertainties and realizing the modality's potential. One promising avenue for image guidance is to capture transmission ion radiographs (iRads) before and/or during treatment. iRad image quality is typically maximized using a single-event imaging system, which involves tracking individual ions, albeit the approach is generally not suited to clinical beam settings. An alternative faster and clinically compatible method is integrated mode imaging, where individual pencil beam data is acquired, rather than single ion data. To evaluate the usefulness of transmission ion imaging for image guidance, it is …

Emapalumab Treatment In Rheumatologic Disease-Associated Hemophagocytic Lymphohistiocytosis: A Plain Language Summary, Shanmuganathan Chandrakasan, Carl E Allen, Deepika Bhatla, John Carter, May Chien, Robert Cooper, Lauren Draper, Olive S Eckstein, Rabi Hanna, J Allyson Hays, Michelle L Hermiston, Ashley P Hinson, Patricia M Hobday, Michael S Isakoff, Michael B Jordan, Jennifer W Leiding, Renee Modica, Taizo A Nakano, Abiola Oladapo, Sachit A Patel, Priti Pednekar, Mona Riskalla, Susmita N Sarangi, Prakash Satwani, Anand Tandra, Kelly J Walkovich, John D Yee, Adi Zoref-Lorenz, Edward M Behrens

Faculty, Staff and Students Publications

What is this summary about? Hemophagocytic lymphohistiocytosis (HLH) is a rare disease caused by overactivation of the body’s natural defense mechanism (the immune system) against infection. In untreated HLH, uncontrolled inflammation (hyperinflammation) can cause significant damage to the body’s organs and death. HLH can occur due to genetic defects (primary HLH) or as a complication or worsening of an underlying disease such as rheumatologic disease, cancer, or infection (secondary HLH).Interferon-gamma (IFNγ) is a type of protein that is overproduced in HLH and causes hyperinflammation. Emapalumab is a medicine that blocks IFNγ activity. The REAL-HLH study described the use of emapalumab …

Otolaryngology-Assisted Approach For Anterior Cervical Discectomy And Fusion, M Benjamin Larkin, Anthony K Allam, Cyrus B King, N Eddie Liou, Alexander E Ropper

Faculty, Staff and Students Publications

First introduced in 1955, anterior cervical discectomy and fusion (ACDF) surgery has seen minimal changes over the years. Its reproducibility, impressive long-term results, and minimal complication rates have established it as one of the most frequently performed cervical spinal fusion surgeries. Yet, postoperative dysphagia remains a concern with a 60% incidence rate. An otolaryngologist's expertise regarding cervical fascial anatomy can inform the spine surgeon's approach to an ACDF to potentially reduce postoperative dysphagia rates. We describe an illustrative case of a 35-year-old woman who presented with 8/10 neck and arm pain along with numbness in her fourth and fifth digits …

Matter Of Anderson Ave. Assoc. Lp V. Fuller

All Decisions

A landlord brought a holdover proceeding claiming the tenant had no right to remain in a rent-stabilized unit, asserting exemption under the Rent Stabilization Code due to the involvement of a charitable organization. The tenant, unrepresented at trial, was accompanied only by a GAL who failed to file an answer, obtain counsel, or mount a defense. Judgment was entered for the landlord. On a post-judgment motion, the tenant sought vacatur, which was denied and affirmed by the Appellate Term. On further appeal, the Appellate Division reversed, holding the GAL's failure to act was tantamount to a default, and that vacatur …

New York City Housing Authority Managed By Seth Low Houses V. Ingram

All Decisions

Following a default eviction in a nonpayment case, the tenant and her three children were rendered homeless for over a month. The court found restoration warranted despite nonpayment due to the unlawful eviction of unserved occupants, including a child who had just turned 18. The landlord’s blanket policy of naming only the head of household in nonpayment proceedings violated RPAPL §§749(1)-(2). The court was persuaded by the tenant's policy argument highlighting NYC’s homeless student crisis and ordered restoration forthwith under RPAPL §749(3), prior to arrears being paid, citing equitable grounds and pending emergency rental assistance. Practice Note: Courts may exercise …

Differences In Blood Leukocyte Subpopulations In Schizophrenia: A Systematic Review And Meta-Analysis, Leon Dudeck, Madeleine Nussbaumer, Thomas Nickl-Jockschat, Paul C Guest, Henrik Dobrowolny, Gabriela Meyer-Lotz, Zhongming Zhao, Roland Jacobs, Kolja Schiltz, Brisa S Fernandes, Johann Steiner

Faculty, Staff and Student Publications

Importance: This study aims to provide robust evidence to support or challenge the immune hypothesis of schizophrenia.

Objective: To conduct a meta-analysis of reports on blood leukocyte subpopulations in schizophrenia vs healthy controls, examining disease- and treatment-related differences as well as potential confounders.

Data sources: Systematic database search for English and non-English peer-reviewed articles in PubMed, Web of Science, Scopus, and Cochrane Library databases, with the last search in January 2024.

Study selection: Cross-sectional, case-control, and longitudinal studies comparing leukocyte numbers in patients with schizophrenia and healthy controls. After duplicates were removed, 3691 studies were identified for screening.

Data extraction …

First Step To Environmentally Sustainable Endoscopy Practice: A Prospective Study Of Minimizing Multiple Device Use During Screening Colonoscopy At A Large Tertiary Center, Prateek S Harne, Vaishali Harne, Asad Rehman, Nirav Thosani, Madhav Desai

Faculty, Staff and Student Publications

The healthcare sector generates 8% of greenhouse gas emissions in the USA, of which gastrointestinal (GI) endoscopy is the third largest contributor. Single-use tools are a major contributor to modifiable waste generation during GI endoscopy. Through a quality improvement initiative, we aimed to reduce endoscopy waste by urging gastroenterologists to be mindful of tools used during polypectomies by avoiding using multiple tools.We discussed green endoscopy initiatives in monthly journal club and business meetings. Over 14 weeks, 210 patients were included in the pre-intervention group and 112 in the post-intervention group.At baseline, 34% of colonoscopies required no intervention, 32% required one …

Endobronchial Ultrasound Transbronchial Needle Aspiration In The Diagnosis Of Visceral Leishmaniasis In A Patient With Human Immunodeficiency Virus Infection, Mohammad A Amjad, Y H Zhang, Rosa M Estrada-Y-Martin, Sujith V Cherian

Faculty, Staff and Student Publications

No abstract provided.

Global Guideline For The Diagnosis And Management Of Candidiasis: An Initiative Of The Ecmm In Cooperation With Isham And Asm, Oliver A Cornely, Rosanne Sprute, Matteo Bassetti, Sharon C-A Chen, Andreas H Groll, Oliver Kurzai, Cornelia Lass-Flörl, Luis Ostrosky-Zeichner, Riina Rautemaa-Richardson, Gunturu Revathi, Maria E Santolaya, P Lewis White, Ana Alastruey-Izquierdo, Maiken C Arendrup, John Baddley, Aleksandra Barac, Ronen Ben-Ami, Adrian J Brink, Jan H Grothe, Jesus Guinea, Ferry Hagen, Bruno Hochhegger, Martin Hoenigl, Shahid Husain, Kauser Jabeen, Henrik E Jensen, Souha S Kanj, Philipp Koehler, Thomas Lehrnbecher, Russell E Lewis, Jacques F Meis, M Hong Nguyen, Zoi D Pana, Peter-Michael Rath, Ilana Reinhold, Danila Seidel, Takahiro Takazono, Donald C Vinh, Sean X Zhang, Javier Afeltra, Abdullah M S Al-Hatmi, Amir Arastehfar, Sevtap Arikan-Akdagli, Felix Bongomin, Fabianne Carlesse, Methee Chayakulkeeree, Louis Y A Chai, Leili Chamani-Tabriz, Tom Chiller, Anuradha Chowdhary, Cornelius J Clancy, Arnaldo L Colombo, Andrea Cortegiani, Dora E Corzo Leon, Lubos Drgona, Anna Dudakova, Joveria Farooqi, Sara Gago, Macit Ilkit, Jeffrey D Jenks, Nikolai Klimko, Robert Krause, Anil Kumar, Katrien Lagrou, Michail S Lionakis, Badre E Lmimouni, Michael K Mansour, Joseph Meletiadis, Sibylle C Mellinghoff, Mervyn Mer, Malgorzata Mikulska, Philippe Montravers, Chin Fen Neoh, Volkan Ozenci, Livio Pagano, Peter Pappas, Thomas F Patterson, Pedro Puerta-Alcalde, Laman Rahimli, Sebastian Rahn, Emmanuel Roilides, Coleman Rotstein, Tamara Ruegamer, Raquel Sabino, Jon Salmanton-García, Ilan S Schwartz, Esther Segal, Neeraj Sidharthan, Tanu Singhal, Janos Sinko, Rajeev Soman, Andrej Spec, Joerg Steinmann, Jannik Stemler, Saad J Taj-Aldeen, Alida Fe Talento, George R Thompson, Christina Toebben, Hiram Villanueva-Lozano, Retno Wahyuningsih, Barbora Weinbergerová, Nathan Wiederhold, Birgit Willinger, Patrick C Y Woo, Li-Ping Zhu

Faculty, Staff and Student Publications

Candida species are the predominant cause of fungal infections in patients treated in hospital, contributing substantially to morbidity and mortality. Candidaemia and other forms of invasive candidiasis primarily affect patients who are immunocompromised or critically ill. In contrast, mucocutaneous forms of candidiasis, such as oral thrush and vulvovaginal candidiasis, can occur in otherwise healthy individuals. Although mucocutaneous candidiasis is generally not life-threatening, it can cause considerable discomfort, recurrent infections, and complications, particularly in patients with underlying conditions such as diabetes or in those taking immunosuppressive therapies. The rise of difficult-to-treat Candida infections is driven by new host factors and antifungal …

Dosimetric Predictors Of Toxicity For Brainstem Metastases And Avms Treated With Stereotactic Radiosurgery: An International, Multi-Institutional Analysis, Raj Singh, Samantha Dayawansa, Duy Pham, Georgios Mantziaris, Selcuk Peker, Yavuz Samanci, Ali Haluk Duzkalir, David Mathieu, Anne-Marie Langlois, Molly L Egnot, Ronald E Warnick, Herwin Speckter, Erwin Lazo, Laura Mendez, Angel I Blanco, Mark J Amsbaugh, Collin Liu, Andrea Becerril-Gaitan, Yoshua Esquenazi, Ching-Jen Chen, Peter Zaki, Yun Liang, Rodney Wegner, Manjul Tripathi, Zhishuo Wei, Shivani A Jajoo, Ajay Niranjan, L Dade Lunsford, Joshua D Palmer, Jason P Sheehan

Faculty, Staff and Student Publications

Background: There are limited data on dosimetric predictors of radiation-induced changes (RICs) for brainstem metastases or arteriovenous malformations (AVMs) following single-fraction stereotactic radiosurgery (SRS).

Methods: We examined a multi-institutional cohort of patients with brainstem metastases or AVMs treated with SRS. We evaluated predictors of RICs graded per CTCAE(Common Terminology Criteria for Adverse Events), including D5%, D95%, D0.03 cc, and D0.5 cc (brainstem minus lesion). Univariate logistic regressions were initially performed with independent variables trending towards significance included on multivariate logistic regression.

Results: A total of 124 brainstem lesions treated with SRS were analyzed (21 AVMs and 103 metastases). The median …

Advancing Understanding And Therapeutic Strategies For Nut Sarcomas: Comprehensive Review Of The Literature And Two Cases, Carlos Torrado, Elise Nassif Haddad, Neeta Somaiah, Pavlos Msaouel, Alexander J Lazar, Sarina A Piha-Paul

Faculty, Staff and Student Publications

Soft tissue sarcomas (STSs) are a group of rare cancers, among which nuclear protein in testis (NUT) sarcomas represent an ultra-rare subset driven by NUTM1 gene fusions. This article presents two unique cases of NUT sarcomas and conducts a comprehensive review of the literature to include an additional 61 cases. Our review reveals that NUT sarcoma exhibits a slightly higher incidence among women (male-to-female ratio of 1:1.03) and tends to manifest at a relatively young age (median age of 40 years). The most prevalent NUT partner genes were the MAD family in 52% of patients (33 of 63 patients, including …

Phase Ii Trial Of Atezolizumab And Bevacizumab For Treatment Of Hpv-Positive Unresectable Or Metastatic Squamous Cell Carcinoma Of The Anal Canal, Van K Morris, Suyu Liu, Kangyu Lin, Haifeng Zhu, Seema Prasad, Armeen Mahvash, Priya Bhosale, Baohua Sun, Edwin R Parra, Ignacio Wistuba, Arjun Peddireddy, James Yao, Julia Mendoza-Perez, Mark Knafl, Scott E Woodman, Cathy Eng, Daniel Halperin

Faculty, Staff and Student Publications

Purpose: Anti-PD-L1 antibodies are associated with responses in < 25% of patients with metastatic human papillomavirus-associated malignancies. VEGF signaling causes immune evasion and immune suppression within the tumor. We evaluated the anti-PD-L1 antibody atezolizumab and anti-VEGF antibody bevacizumab for patients with unresectable, advanced anal cancer.

Patients and methods: For this phase II study, participants with previously treated, immunotherapy-naïve anal cancer received atezolizumab (1,200 mg) and bevacizumab (15 mg/kg) intravenously every 21 days. Responses were evaluated every 9 weeks (RECIST version 1.1). The primary endpoint was the best radiographic response. Median survival was estimated by Kaplan-Meier and compared for selected biomarkers (including paired pre- and on-treatment biopsies) using a log-rank test.

Results: Among 20 participants, the overall response rate was 11% [95% confidence interval (CI): 1.2-32]. Median progression-free survival and overall survival were 4.1 months (95% CI, 2.6-not …

Pharmacotherapy And Non-Invasive Neuromodulation For Neuropathic Pain: A Systematic Review And Meta-Analysis, Nadia Soliman, Xavier Moisset, Michael C Ferraro, Daniel Ciampi De Andrade, Ralf Baron, Joletta Belton, David L H Bennett, Margarita Calvo, Patrick Dougherty, Ian Gilron, Aki J Hietaharju, Koichi Hosomi, Peter R Kamerman, Harriet Kemp, Elena K Enax-Krumova, Ewan Mcnicol, Theodore J Price, Srinivasa N Raja, Andrew S C Rice, Blair H Smith, Fiona Talkington, Andrea Truini, Jan Vollert, Nadine Attal, Nanna B Finnerup, Simon Haroutounian

Faculty, Staff and Student Publications

Background: There remains a substantial unmet need for effective and safe treatments for neuropathic pain. The Neuropathic Pain Special Interest Group aimed to update treatment recommendations, published in 2015, on the basis of new evidence from randomised controlled trials, emerging neuromodulation techniques, and advances in evidence synthesis.

Methods: For this systematic review and meta-analysis, we searched Embase, PubMed, the International Clinical Trials Registry, and ClinicalTrials.gov from data inception for neuromodulation trials and from Jan 1, 2013, for pharmacological interventions until Feb 12, 2024. We included double-blind, randomised, placebo-controlled trials that evaluated pharmacological and neuromodulation treatments administered for at least 3 …

Technology Dependence Among Hospitalized Us Children., Emily J. Goodwin, Isabella Zaniletti, Margaret Wright, Matt Hall, Jeffrey D. Colvin

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Enterovirus D68-Associated Respiratory Illness In Children., Benjamin R. Clopper, Adriana S. Lopez, Leah A. Goldstein, Terry Fei Fan Ng, Ariana P. Toepfer, Mary A. Staat, Elizabeth P. Schlaudecker, Leila C. Sahni, Julie A. Boom, Jennifer E. Schuster, Rangaraj Selvarangan, Natasha B. Halasa, Laura S. Stewart, John V. Williams, Marian G. Michaels, Geoffrey A. Weinberg, Peter G. Szilagyi, Eileen J. Klein, Janet A. Englund, Meredith L. Mcmorrow, Heidi L. Moline, Claire M. Midgley

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Enterovirus D68 (EV-D68) typically causes mild to severe acute respiratory illness (ARI). Testing and surveillance for EV-D68 in the US are limited, and important epidemiologic gaps remain.

OBJECTIVE: To characterize the epidemiology and clinical severity of EV-D68 among US children seeking care for ARI from 2017 to 2022, using a multisite, active, systematic surveillance network.

DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study collected data from the New Vaccine Surveillance Network, an active, prospective, population-based surveillance system of emergency departments (EDs) and hospitals at 7 US academic medical centers. Children with ARI and EV-D68-positive results were enrolled during platform-wide EV-D68 …

Maternal Cardiometabolic Risk Factors In Pregnancy And Offspring Blood Pressure At Age 2 To 18 Years., Zhongzheng Niu, Ako Adams Ako, Sarah Dee Geiger, Caitlin G. Howe, Wei Perng, Rachana Singh, Margaret R. Karagas, Amy J. Elliott, Andrea Cassidy-Bushrow, Carlos A. Camargo, Keia Sanderson, Cynthia T. Mcevoy, Emily Oken, Dana Dabelea, Tina V. Hartert, Brian S. Carter, Annemarie Stroustrup, Andrea Lampland, Thomas G. O'Connor, Semsa Gogcu, Mark L. Hudak, Lyndsey E. Shorey-Kendrick, Qi Zhao, Yu Ni, Jeffrey Vanwormer, Assiamira Ferrara, Monique Hedderson, Yeyi Zhu, Akram Alshawabkeh, Jose Cordero, Daphne Koinis-Mitchell, Susan Carnell, Carrie V. Breton, Theresa M. Bastain, Shohreh F. Farzan, Echo Cohort Consortium

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Higher blood pressure in early life may signal cardiovascular disease over the life course, but determinants of blood pressure in early life are poorly understood.

OBJECTIVE: To examine the association of maternal cardiometabolic risk factors during pregnancy with offspring blood pressure from age 2 to 18 years and explore whether the association is modified by offspring sex and race and ethnicity.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study analyzed data from the Environmental Influences on Child Health Outcomes program between January 1, 1994, and March 31, 2023. Three common maternal cardiometabolic risk factors during pregnancy were examined: prepregnancy obesity, …

Tumour Size Is Associated With Growth Rates Of >0.5 Cm/Year And Delayed Intervention In Small Renal Masses In Patients On Active Surveillance, Maximilian Pallauf, Michael Rezaee, Roy Elias, Tina Wlajnitz, Sean A Fletcher, Joseph Cheaib, Khalid Alkhatib, Peter Chang, Andrew A Wagner, James M Mckiernan, Mohamad E Allaf, Phillip M Pierorazio, Nirmish Singla

Faculty, Staff and Student Publications

Objective: To evaluate the association between tumour size and the growth rate (GR) of small renal masses (SRMs) in patients managed by active surveillance (AS).

Materials and methods: We queried the prospective, multi-institutional Delayed Intervention and Surveillance for Small Renal Masses (DISSRM) registry for patients on AS with an imaging interval of ≥6 months, identifying 456 patients. We tracked tumour size over time; a GR >0.5 cm/year was defined as a GR event. We used multivariable recurrent events and time-to-event Cox regression modelling to evaluate the association between tumour size and GR events (primary outcome) and tumour size and delayed …

Race And Clinical Outcomes In Hormone Receptor-Positive, Her2-Negative, Node-Positive Breast Cancer In The Randomized Rxponder Trial, Yara Abdou, William E Barlow, Julie R Gralow, Funda Meric-Bernstam, Kathy S Albain, Daniel F Hayes, Nancy U Lin, Edith A Perez, Lori J Goldstein, Stephen K L Chia, Sukhbinder Dhesy-Thind, Priya Rastogi, Emilio Alba, Suzette Delaloge, Anne F Schott, Steven Shak, Priyanka Sharma, Danika L Lew, Jieling Miao, Joseph M Unger, Debasish Tripathy, Gabriel N Hortobagyi, Lajos Pusztai, Kevin Kalinsky

Faculty, Staff and Student Publications

Background: The phase III RxPONDER trial has affected treatment for node-positive (1-3), hormone receptor-positive, HER2-negative breast cancer with a 21-gene recurrence score (RS) less than 26. We investigated how these findings apply to different racial and ethnic groups within the trial.

Methods: The trial randomly assigned women to endocrine therapy (ET) or to chemotherapy plus ET. The primary clinical outcome was invasive disease-free survival (IDFS), with distant relapse-free survival (DRFS) as a secondary outcome. Multivariable Cox models were used to evaluate the association between race/ethnicity and survival outcomes, adjusting for clinicopathological characteristics, RS, and treatment.

Results: A total of 4048 …

Predicting Thoracic Aortic Dissection In A Diverse Biobank Using A Polygenic Risk Score, John Depaolo, Siavash Zamirpour, Sarah Abramowitz, Gina Biagetti, Renae Judy, Cameron Beeche, Jeffrey Duda, James Gee, Walter R Witschey, Julio A Chirinos, Nicholas J Goel, Nimesh Desai, Wilson Y Szeto, Dongchuan Guo, Dianna M Milewicz, Michael G Levin, James P Pirruccello, Scott M Damrauer

Faculty, Staff and Student Publications

Background: Thoracic aortic dissection is a life-threatening condition that often occurs in the presence of aortic dilation. However, currently there are limited clinical risk factors beyond aortic diameter (AoD) used to determine individual-level dissection risk.

Objectives: The purpose of this study was to determine whether common variant genetics can be used to improve identification of individuals most at risk for dissection.

Methods: A genome-wide association study (GWAS)-by-subtraction was performed to characterize the diameter-independent genetics of thoracic aortic dissection by subtracting a GWAS of AoD from a GWAS of thoracic aortic aneurysm and dissection. A polygenic risk score (PRS) was calculated …

Precision Proteogenomics Reveals Pan-Cancer Impact Of Germline Variants, Fernanda Martins Rodrigues, Nadezhda V Terekhanova, Kathleen J Imbach, Karl R Clauser, Myvizhi Esai Selvan, Isabel Mendizabal, Yifat Geffen, Yo Akiyama, Myranda Maynard, Tomer M Yaron, Yize Li, Song Cao, Erik P Storrs, Olivia S Gonda, Adrian Gaite-Reguero, Akshay Govindan, Emily A Kawaler, Matthew A Wyczalkowski, Robert J Klein, Berk Turhan, Karsten Krug, D R Mani, Felipe Da Veiga Leprevost, Alexey I Nesvizhskii, Steven A Carr, David Fenyö, Michael A Gillette, Antonio Colaprico, Antonio Iavarone, Ana I Robles, Kuan-Lin Huang, Chandan Kumar-Sinha, François Aguet, Alexander J Lazar, Lewis C Cantley, Urko M Marigorta, Zeynep H Gümüş, Matthew H Bailey, Gad Getz, Eduard Porta-Pardo, Li Ding

Faculty, Staff and Student Publications

We investigate the impact of germline variants on cancer patients' proteomes, encompassing 1,064 individuals across 10 cancer types. We introduced an approach, "precision peptidomics," mapping 337,469 coding germline variants onto peptides from patients' mass spectrometry data, revealing their potential impact on post-translational modifications, protein stability, allele-specific expression, and protein structure by leveraging the relevant protein databases. We identified rare pathogenic and common germline variants in cancer genes potentially affecting proteomic features, including variants altering protein abundance and structure and variants in kinases (ERBB2 and MAP2K2) impacting phosphorylation. Precision peptidome analysis predicted destabilizing events in signal-regulatory protein alpha (SIRPA) and glial …

Impact Of Comorbidities On The Mortality Benefits Of Lung Cancer Screening: A Post-Hoc Analysis Of The Plco And Nlst Trials, Sebastien Gendarme, Ehsan Irajizad, James P Long, Johannes F Fahrmann, Jennifer B Dennison, Seyyed Mahmood Ghasemi, Rongzhang Dou, Robert J Volk, Rafael Meza, Iakovos Toumazis, Florence Canoui-Poitrine, Samir M Hanash, Edwin J Ostrin

Faculty, Staff and Student Publications

Objectives: To evaluate how comorbidities affect mortality benefits of lung cancer screening (LCS) with low-dose computed tomography.

Methods: We developed a comorbidity index (Prostate, Lung, Colorectal, and Ovarian comorbidity index [PLCO-ci]) using LCS-eligible participants' data from the Prostate, Lung, Colorectal, and Ovarian (PLCO) trial (training set) and the National Lung Screening Trial (NLST) (validation set). PLCO-ci predicts five-year non-lung cancer (LC) mortality using a regularized Cox model; with performance evaluated using the area under the receiver operating characteristics curve. In NLST, LC mortality (per original publication) was compared between low-dose computed tomography and chest radiograph arms across the PLCO-ci quintile …

Genome-Wide Association Meta-Analyses Of Drug-Resistant Epilepsy, Costin Leu, Andreja Avbersek, Remi Stevelink, Helena Martins Custodio, Siwei Chen, Doug Speed, Caitlin A Bennett, Lina Jonsson, Unnur Unnsteinsdóttir, Andrea L Jorgensen, Gianpiero L Cavalleri, Norman Delanty, John J Craig, Chantal Depondt, Michael R Johnson, Bobby P C Koeleman, Emadeldin Hassanin, Maryam Erfanian Omidvar, Roland Krause, Holger Lerche, Anthony G Marson, Terence J O'Brien, Josemir W Sander, Graeme J Sills, Pasquale Striano, Federico Zara, Hreinn Stefansson, Kari Stefansson, Patrick May, Benjamin M Neale, Dennis Lal, Samuel F Berkovic, Epi25 Collaborative, Epipgx Consortium, Sanjay M Sisodiya

Faculty, Staff and Student Publications

Background: Epilepsy is one of the most common neurological disorders, affecting over 50 million people worldwide. One-third of people with epilepsy do not respond to currently available anti-seizure medications, constituting one of the most important problems in epilepsy. Little is known about the molecular pathology of drug resistance in epilepsy, in particular, possible underlying genetic factors are largely unknown.

Methods: We performed a genome-wide association study (GWAS) in two epilepsy cohorts of European ancestry, comparing drug-resistant (N = 4208) to drug-responsive individuals (N = 2618) followed by meta-analyses across the studies. Next, we performed subanalyses split into two broad subtypes: …

Psychological Profiles Of Patients Reporting With Musculoskeletal Shoulder Or Elbow Pain, Chuheng Xing, Mallory B Lane, Madilyn L Feik, Jake Taylor, James M Gregory, Natalie L Myers

Faculty, Staff and Student Publications

Background: The Optimal Screening for Prediction of Referral and Outcome-Yellow Flag (OSPRO-YF) is a questionnaire that helps assess multiple psychological domains. The primary purpose of this study was to evaluate the effect of body region (shoulder and elbow) and sex on baseline OSPRO-YF scores. The secondary purpose was to evaluate the association of age on baseline OSPRO-YF scores for both shoulder and elbow patients.

Methods: 242 subjects completed 1) a demographic survey and 2) the 17-item OSPRO-YF. The OSPRO-YF estimates the individual scores of 11 psychological patient-reported outcome measures. To assess the effects of body region and sex on the …

Outcomes After Anatomic Labral Repair With All-Suture Knotless Tensionable Anchors In Primary Hip Arthroscopic Surgery: A Prospective Analysis Of 200 Consecutive Patients, David R Maldonado, Rachel E Bruning, Julio Nerys-Figueroa, Benjamin G Domb

Faculty, Staff and Student Publications

Background: Anatomic labral repair is paramount when restoring the hip suction sealing mechanism in femoroacetabular impingement syndrome (FAIS) surgery. All-suture knotless tensionable anchors have been recently proposed as an alternative; however, data are scarce.

Purpose: To report patient-reported outcome measure (PROM) scores at a minimum 2-year follow-up for patients who underwent primary hip arthroscopic surgery with labral repair using an all-suture knotless tensionable anchor with the controlled-tension anatomic technique in the setting of FAIS.

Study design: Case series; Level of evidence, 4.

Methods: Data were prospectively collected, and patients who underwent primary hip arthroscopic surgery for the treatment of FAIS …

Synchronous Clear Cell Renal Cell Carcinoma And Classic Hodgkin Lymphoma, Phuoc Christie-Nguyen, Ahmed A Ahmed, Nourhan Ibrahim, Jacob Armstrong, Brenda Mai

Faculty, Staff and Student Publications

Introduction: The coexistence of renal cell carcinoma and classic Hodgkin lymphoma is exceedingly rare, with only two documented cases. Here, we present the third case diagnosed in our institution.

Case presentation: A 46-year-old man presented with right flank pain, fever, mild pancytopenia, and renal mass on computed tomography scan, suggesting renal malignancy. Despite intravenous antibiotics and extensive workup for recurrent fever, his condition did not improve. A bone marrow biopsy revealed rare large EBV-positive B cells. Surprisingly, imaging only showed minimal intraabdominal lymphadenopathy in the perinephric region. Subsequent surgery confirmed clear cell renal cell carcinoma in the kidney and scattered …