Digital Commons Network^™

Utilizing A Culture System For Horizontal Cells To Study Neural Circuit Assembly In The Developing Mouse Retina, Ross M Perez, Yong H Park, Ajeet Singh, Collin Todora, Marlon F Mattos, Daniela Becerril, Rajashree Venkatraman, Arlene A Hirano, Nicholas C Brecha, Rinki Ratnapriya, Benjamin J Frankfort, Elizabeth Zuniga-Sanchez

Faculty, Staff and Students Publications

The precise wiring of the nervous system relies on neurons extending their processes at the right time and place to find their appropriate synaptic partner. The mechanisms that determine when and where neurons extend their neurites during synaptogenesis remains a central question in the field. In the present study, we used a cell culture system coupled with live imaging to investigate the wiring mechanisms in the developing mouse retina. We focused on horizontal cells which are a class of interneurons in the outer mouse retina known to synapse selectively to the distinct types of photoreceptors. Previous research has shown horizontal …

Updates In Mycobacterial Keratitis Diagnosis And Treatment, Uma L Balakrishnan, Ryan T Wallace, Patricia Chévez-Barrios, Alejandro Arboleda, Masih U Ahmed

Faculty, Staff and Students Publications

Mycobacterial keratitis is an uncommon but challenging form of infectious keratitis, often associated with postsurgical eyes. Clinical presentation is variable and may be difficult to recognize, resulting in delays in diagnosis and challenges in management. Traditional diagnostic techniques from corneal scrapings are limited by slow organism growth and may yield negative results. Treatment is challenging due to antimicrobial resistance and typically requires prolonged multidrug therapy. Advances in diagnostic modalities, antimicrobial therapies, surgical approaches, and adjunctive treatments such as corneal crosslinking have improved clinicians' ability to mitigate or avoid severe visual consequences. Despite these developments, optimal management strategies remain incompletely defined, …

Case Report: Primed Dendritic Cell Immunotherapy For Multiple Solid Tumors, Jeffrey Jones, Aly Alrabaa, William Decker, Luis Ferbeyre, Gregorio Viramontes, Rafael Gonzalez, Elideth Angulo, Antonio Zamudio, Raul Hernandez, Stephen Noga, Susana Hernandez-Reyes, Paul Zhang, Darryl Smith, Ara Karamanian, Luis Tamara, Dalton Greenwood, Matthew Halpert

Faculty, Staff and Students Publications

Many patients with advanced solid tumors ultimately develop resistance to conventional therapies, with especially limited options for those experiencing rapid progression or poor performance status, highlighting the need for personalized immunotherapies capable of inducing durable responses. In this retrospective case series, we describe the clinical course and outcomes of five adults (4 male, 1 female; median age 51 years [range, 39-62]) with metastatic solid tumors who achieved complete and durable remission following doubly loaded autologous dendritic cell therapy after failure of standard treatments, such as immune checkpoint inhibition, radiation, surgery, or endocrine therapy. Five patients, including prostate adenocarcinoma (n=1), malignant …

Prevalence Of Substance Use In Northwest Syria: A Cross-Sectional Study, Isabel Draper, Dania Albaba, Heba Mesbah, Huda Taktak, Nidhal Saadoun, Mohammad Alhusein, Elharit Alissa, Anas Barbour, Zaher Sahloul, Nidal Moukaddam

Faculty, Staff and Students Publications

Objectives: Syria has undergone significant socio-political turmoil since 2011 as internal conflict displaced portions of the population, destroyed infrastructure, and destabilized the economy. In the context of multilevel healthcare system disruptions, there have been increasing reports of substance use. This study seeks to evaluate patterns of substance use in Northwestern Syria.

Methods: Trained staff administered questionnaires to community members in Azaz, Syria. Questions focused on the substance use prevalence, societal and public health impacts, and perspectives on treatment availability.

Results: 480 individuals were surveyed (80·88% male, 19·12 % female; 43·39% were 18-25 yrs, 11·5% reported personal substance use). H-booz (amphetamines), …

The All Of Us Evenings With Genetics Research Program, Stacy M Lloyd, Jasmine Baker, Carolina Jorgez, Julie Coleman, Laterrica Williams, April Adams, Ashley Butler, Elizabeth Atkinson, Shamika Ketkar, Steven Scherer, Kim Worley, Susan Fernbach, Keasia Daniels, Latanya Hammonds-Odie, Laura Rosales, Brendan Lee, Debra Murray

Faculty, Staff and Students Publications

The All of Us Evenings with Genetics (All of Us EwG) Research Program, funded in part by the National Institute of Health’s All of Us Research Program, engages researchers to utilize the All of Us Researcher Workbench to advance precision medicine. The All of Us EwG program has two core aims: (1) address barriers to research productivity for minorities, disadvantaged, and persons with disabilities aspiring to enter STEM fields; and (2) promote the use of the All of Us Researcher Workbench to develop research focused on health equity. To achieve these goals, the program implements three key activities: (1) …

Surface Marker Identification To Capture Live Circulating Tumor Cells In Metastatic Triple-Negative Breast Cancer, Bree M Lege, Khushali J Patel, Brendan Panici, Ping Gong, Michael T Lewis, Matthew J Ellis, Chonghui Cheng

Faculty, Staff and Students Publications

Metastatic triple-negative breast cancer (TNBC) is highly aggressive and lacks targeted therapies. Circulating tumor cells (CTC) are invaluable for monitoring metastatic tumor progression and treatment response but are difficult to capture because of their rarity and heterogeneity. Surface-based staining for live CTCs is essential to preserve RNA quality in single cells, but current markers tend to perform poorly on more mesenchymal tumor cells such as TNBCs. To enhance live TNBC CTC detection, we developed a workflow for live CTC capture and single-cell RNA sequencing (scRNA-seq). Using a mouse model of metastatic TNBC, we identified four new CTC surface markers, AHNAK2, …

Lysine Demethylase 4a Is A Centrosome-Associated Protein Required For Centrosome Integrity And Genomic Stability, Pratim Chowdhury, Xiaoli Wang, Richard I Han, Manga Motrapu, Ashley G Boice, Yuya Nakatani, Sofia Vargas-Hernandez, Julia F Love, Claude Chew, Sandra L Grimm, Dereck Mezquita, Frank M Mason, Elisabeth D Martinez, Cristian Coarfa, Cheryl L Walker, Anna-Karin Gustavsson, Ruhee Dere

Faculty, Staff and Students Publications

Centrosomes play a fundamental role in nucleating and organizing microtubules in the cell and are vital for faithful chromosome segregation and maintenance of genomic stability. Loss of structural or functional integrity of centrosomes causes genomic instability and is a driver of oncogenesis. Here we identify lysine demethylase 4A (KDM4A), an epigenetic 'eraser' of chromatin methyl marks, as a centrosome-localized protein, visualized at the nanometer-scale resolution. We additionally uncovered that KDM4A demethylase enzymatic activity is required to maintain centrosome homeostasis and integrity; a previously unknown functionality unlinked to altered expression of genes regulating centrosome number. We find that KDM4A interacts with …

Research Productivity Variation In Applicants Who Matched Into Home Orthopaedic Surgery Programs, Frances Akwuole, Cole Christenson, Freddy Jacome, James Macleod, Omar Shaikh, Michael W. Pullen, Avani Chopra, Owen Lema, Justin Lee, Sia Cho, Annemarie K. Leonard, Alfonso Mejia

Graduate Medical Education Research Journal

Background. Research output among orthopaedic surgery applicants remains an important factor in the orthopaedic surgery residency selection process. However, there is limited literature comparing objective measures such as research productivity across different types of orthopaedic surgery applicants. We aim to determine if students who match at their home programs have significantly different research productivity and, secondarily, Alpha Omega Alpha (AOA) membership rates, compared to those who match at external programs.

Methods. This study was conducted in April 2024. A list of orthopaedic surgery residents was acquired from publicly available websites using a Python script. Programs were stratified into four geographic …

Inflammatory Co-Regulation Of Voltage-Gated Sodium Channels And Na,K-Atpase In Metastatic Breast Cancer, Steven D. Scahill, Kelly Jean Sherman, Dennis Paul

School of Graduate Studies Faculty Publications

Sodium regulation is a potentially major driver of cancer metastasis. Voltage-gated sodium channels (VGSCs) and Na,K-ATPase are sodium transporters that are upregulated in many advanced carcinomas and are implicated as metastatic drivers. However, little is known about what drives this overexpression, how these proteins influence metastatic behavior, or whether these complementary sodium transporters are co-regulated in cancer. Using sodium transporter regulation in healthy neurons as a model, the present study demonstrated that the inflammatory mediator tumor necrosis factor alpha (TNFα) affects the expression of VGSCs and Na,K-ATPase in an in vitro model of metastatic breast cancer. Acute TNFα challenge increased …

Psoriasis Treatments In The Stabilization Of Atherosclerosis: A Systematic Review, Lixin Ji, Sowmya Ravi, Laura Wright, Vi Nguyen, Jose Wiley, Milena Vukelic, Sangkyu Kim

School of Medicine Faculty Publications

This systematic review explores the relationship between achieving minimal disease activity in psoriasis and the progression of atherosclerosis. It investigates how biologic therapies and other treatments impact atherosclerosis markers, offering insights into therapeutic strategies. A comprehensive search of PubMed, Embase, and Web of Science was conducted from January 1, 2000, to April 1, 2023, using terms such as psoriasis, psoriatic arthritis, atherosclerosis, biologic therapy, vascular stiffness, carotid intima-media thickness (CIMT), and coronary computed tomography angiography (CCTA). Eligible studies were those involving human subjects over 18, written in English, that provided quantitative atherosclerosis markers, including CIMT, CCTA, arterial pulse wave velocity …

Synergizing Digital And Print: Leveraging Spine Surgeons' Social Media To Transform Publishing And Society Interaction, Benedikt W. Burkhardt, Kai-Uwe Lewandrowski, Choll W. Kim, Morgan P Lorio, Oscar L. Alves, Rossano Kepler Alvim Fiorelli, Sergio Luis Schmidt, Hansen A. Yuan, Alex R. Vaccaro

Department of Orthopaedic Surgery Faculty Papers

BACKGROUND: Social media has fundamentally altered how information is created, disseminated, and consumed, with growing impact on spine surgeons and professional societies. Traditional academic publishing remains the standard for research validation, but digital platforms now shape much of the real-time dialogue in spine care.

OBJECTIVE: To explore strategies for integrating spine surgeons' social media presence with traditional publishing channels to enhance knowledge dissemination, support clinical innovation, and improve member engagement within spine societies.

METHODS: This perspective reviews current patterns of social media use among spine surgeons, focusing on platforms such as X (formerly Twitter), Instagram, and LinkedIn. It analyzes benefits …

Extensive Superficial Dermatomycosis Caused By Cladophialophora Sp., A Deep Mycosis Pathogen: A Case Report, Nikko Vanda Limantara, Agnes Sri Siswati, Flandiana Yogianti

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Superficial dermatomycosis, predominantly caused by dermatophytes, affects approximately 20–25% of the global population. However, non-dermatophytic fungi, such as Cladophialophora species (sp.), can also cause similar cutaneous infections. Although less common, these organisms are particularly concerning in immunocompromised individuals.

Case Illustration: A 66-year-old immunocompromised male presented with widespread pruritic and erythematous patches, initially misdiagnosed as tinea corporis. Despite receiving standard antifungal therapy, his condition persisted. Further investigation through fungal culture identified Cladophialophora sp., which was resistant to common antifungal agents such as fluconazole, itraconazole, and ketoconazole. However, the fungus was sensitive to terbinafine, which has …

Video Education On The Knowledge Of Cosmetics And Skin Care Contact Dermatitis: A Cross-Sectional Study, Muhammad Rizkinanda Prasetyo, Damayanti Damayanti, Lilik Herawati, Sylvia Anggraeni

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Contact dermatitis is an immunologic reaction to irritants, allergens, and is commonly associated with cosmetics and skin-care products. Limited knowledge of this condition increases the risk of improper product use and delays preventive measures. Therefore, education plays a crucial role in fostering a comprehensive understanding of its etiology and prevention. This study aimed to evaluate the effectiveness of a video-based educational intervention in enhancing women’s knowledge regarding contact dermatitis related to cosmetics and skin-care products.

Methods: This cross-sectional study collected primary data from 100 female academics aged 17–45 at Airlangga University, Surabaya, East Java, Indonesia. Knowledge of contact dermatitis …

Difficulties In Diagnosing Primary Cutaneous Mucormycosis: Excluding Mycobacterium Other Than Tuberculosis, Chinda Liaska Indah, Sri Linuwih Susetyo Wardhani Menaldi, Sondang Pandjaitan Sirait, Sandra Widaty

Journal of General - Procedural Dermatology and Venereology Indonesia

Background: Mucormycosis is a rare fungal infection caused by a group of opportunistic fungi from the class Zygomycetes. Primary cutaneous mucormycosis is the most common type of mucormycosis in immunocompetent patients. This study reported a case of primary cutaneous mucormycosis with nonspecific clinical characteristics and various supporting examinations. The patient was successfully treated with in toto excision and oral ketoconazole.

Case Illustration: A 40-year-old female presented with purplish-red spots and painless lumps on the second finger of her right hand, which had been present for a year. She had a history of frequent fish tank cleaning and gardening but …

Perspectives On The Future Of The Profession Of Microbiology, Todd L Kelson, Heidi B Kaplan, Michelle Dziejman, Shilpa Gadwal, Irene Hulede, Jennifer Bennett, Roger Greenwell, Shelley Payne, Kyle Maclea, Eric Miller, Diana L Vullo, Rebecca Sparks-Thissen, Astral Bertolio, Jorge Cervantes

Faculty, Staff and Student Publications

The Profession of Microbiology (POM) embodies the bulk of the American Society for Microbiology (ASM) members and represents the career preparation arm of the ASM for academia, industry, and clinical lab professions. The ASM Council on Microbial Sciences hosted a virtual retreat in 2025 to identify the future of the POM. The retreat presentations centered on workforce development, professional development, innovations in technology, and interdisciplinary collaborations. Various aspects were identified, such as the need to prepare for careers in industry, as an important goal of future training. It was also clear that scientists, in all walks of life, need professional …

Eif3d And Eif3e Mediate Selective Translational Control Of Hypoxia That Can Be Inhibited By Small Molecules, Stephen C Purdy, Kate Matlin, Christopher Alderman, Amber Baldwin, Natasha Shrivastava, Goksu Sarioglu, Somnath Dutta, Kristofor J Webb, Arthur Wolin, Dillon P Boulton, Annika Gustafson, Jyoti Kapali, John D Landua, Michael T Lewis, M Cecilia Caino, James C Costello, William Old, Xiang Wang, Rui Zhao, Heide L Ford, Neelanjan Mukherjee

Faculty, Staff and Students Publications

Exposure to hypoxia is linked to increased cellular plasticity and enhanced metastasis, effects that are primarily attributed to the transcriptional activation of large gene programs downstream of hypoxia-inducible factors (HIFs). However, translational effects in hypoxia, which likely precede transcriptional effects, have remained largely unexplored. Using ribosome profiling, we uncovered a selective translational response in acute hypoxia that is eukaryotic initiation factor (eIF)3d/eIF3e dependent and controls downstream hypoxic responses, including HIF1α accumulation and cellular invasion. We further demonstrated that eIF3e copy number and eIF3e and eIF3d expression signatures are associated with worsened outcomes for patients with breast cancer. Finally, we identified …

Epidemiology And Screening Of Traumatic Vertebral Artery Injuries At A Large Scandinavian Level 1 Trauma Center, Paulina Cewe, Victor E. Staartjes, Victor Gabriel El-Hajj, Ihab Ahmad Al-Rikabi, Basel Musmar, Joana M. Roy, Dennis Troung, Mats Beckman, Marcus Ohlsson, Pascal Jabbour, Adrian Elmi-Terander, Erik Edström

Jefferson Hospital Staff Papers and Presentations

OBJECTIVE: Traumatic vertebral artery injuries (tVAIs) are uncommon but potentially devastating if missed. While computed tomography angiography (CTA) is routinely used for diagnosis, data on the number needed to image (NNI) remain limited. We hence analyzed tVAI epidemiology and imaging practices at a major Scandinavian level 1 trauma center.

METHODS: A retrospective study (2013-2020) was performed based on a single-center trauma registry. Patients were grouped based on CTA imaging protocol used; selective screening (2013-2017) and universal screening (2018-2020). Imaging protocols, treatment strategies, and outcomes were analyzed.

RESULTS: Among 2,843 patients admitted with level 1 trauma and receiving CTA imaging, 62 …

Pattern Of Ultra Processed Food (Upf) Consumption And Mental Wellbeing Of Medical Undergraduates Of Chengalpattu District, Tamil Nadu, India – A Cross Sectional Study, Nithin C, Sumedha K, Murugan V

Digital Journal of Clinical Medicine

Abstract:

Background: Nutrition plays a crucial role in the health and development of individuals. In recent years, the rise in ultra-processed food (UPF) consumption, especially among young adults, has been linked to various health issues, including mental health concerns. This study aims to assess the pattern of UPF consumption and its impact on the mental well-being of medical undergraduates in Chengalpattu district, Tamil Nadu.

Methods: A cross-sectional study was conducted among 384 medical undergraduates aged 18 years and above enrolled in three tertiary care teaching hospitals. Data was collected using a questionnaire, which included demographic details, lifestyle factors, a UPF …

Systematic Review: Burnout In Health Care Professionals, Nicolas X. Tovar

The Journal of Purdue Undergraduate Research

No abstract provided.

Protocol For Nucleo-Cytoplasmic Fractionation Of Mammalian Cells To Study Protein Translocation Via Immunoblotting, Adhikarimayum Lakhikumar Sharma, Eddy Zhu, Rithika Padyala, Kavya Parikh, Mudit Tyagi

Center for Translational Medicine Faculty Papers

Studying protein translocation is essential for understanding protein function and regulatory mechanisms, including the activity of transcription factors. Here, we present a protocol for isolating high-quality cytoplasmic and nuclear protein fractions from mammalian cells. We describe steps for separating cytoplasmic proteins, washing nuclei, and extracting nuclear proteins. We then detail procedures for quantifying proteins and analyzing their distribution by immunoblotting within a single immunoblot. This protocol is applicable to both suspension and adherent cell types. For complete details on the use and execution of this protocol, please refer to Sharma et al.

Factors Influencing The Choice Of Neurology As A Specialty Among Medical Students And Physicians In Saudi Arabia: A Cross-Sectional Study, Muhannad A. Alahmadi, Moath M. Alomairi, Aseel O. Banasir, Omar Babateen

Saudi Toxicology Journal

Neurological disorders represent a substantial global health burden and contribute to the rising demand for neurologists. In Saudi Arabia, the shortage of neurologists underscores the importance of understanding how medical students and physicians perceive neurology as a career. This study aimed to explore the level of interest in neurology and identify factors influencing specialty selection. This cross-sectional study was conducted between November and December 2024 among undergraduate medical students and medical graduates (residents, fellows, specialists, and consultants) in Saudi Arabia. First-year students and those without prior exposure to neurology were excluded. Data were collected through a structured online questionnaire distributed …

The Impact Of Exercise On Albuminuria And Kidney Function In The 2nd And 3rd Trimesters Of Physiological Pregnancy, Wojciech Wołyniec, Andrzej Kochanowicz, Jan Mieszkowski, Łukasz Radzimiński, Marcin Renke, Anna Szumilewicz

Baltic Journal of Health and Physical Activity

Background: Physical activity is an important part of healthy lifestyle and should be continued during low-risk pregnancy. Several studies have suggested that most pregnant women had no contraindications to perform exercises. The aim of the study was to assess the acute effect of an exercise test up to refusal and a chronic impact of an 8-week HIIT program on albuminuria and kidney function in the 2nd and 3rd trimester of pregnancy. Material and Methods: A group of 36 pregnant women was studied. At the beginning of the study, all participants had normal kidney function and albuminuria at rest. Nineteen women …

Violence Between Residents In Nursing Homes Is An Enduring Problem. The Agencies, Nursing Homes, And Residents Are Playing Hot Potato With The Responsibility, Cindy Marchionda, Rafael Escalara Montoto

Capstones

Resident-to-resident aggression in nursing homes is a persistent issue, far more common than the general public realizes. While many of these violent situations can be managed, some tragically escalate to fatal outcomes, leaving families mourning the loss of their loved ones at the hands of a facility that was meant to provide safety and care during their final years. Experts agree that this issue is largely driven by chronic understaffing and insufficient training for employees on how to manage patients with dementia and aggression issues.

Transdiagnostic Links Of Reward Processing In Obsessive-Compulsive Disorder And Depression, Kevin M Wagner, Matti Cervin, Jessica S C Cheng, Jasmine Arriaga, Vanessa Zavala Cruz, Dayan Berrones, Josselyn S Muñoz, Renee M Frederick, Jacey L Anderberg, Belinda E Núñez Bracho, Victor R Adorno, Leonardo F Fontenelle, Andrew D Wiese, Latin American Trans-Ancestry Initiative For Ocd Genomics (Latino), Brazilian Obsessive-Compulsive Spectrum Disorder Working Group (Gttoc), James J Crowley, Eric A Storch

Faculty, Staff and Students Publications

Objectives: Transdiagnostic models aim to uncover shared mechanisms across mental disorders. Reward responsiveness (the ability to experience pleasure from rewarding stimuli) is a plausible, yet underexplored, transdiagnostic mechanism linking obsessive-compulsive disorder (OCD) and depression. This study used network analysis to (1) examine how key reward responsiveness domains are interlinked in individuals with OCD and (2) explore how each domain is uniquely associated with OCD and depression.

Methods: A total of 1345 individuals with a history of OCD symptoms (ages 18-88, 71 % women) from Latino communities in the United States (including Puerto Rico) and nine Latin American countries completed validated …

Mitochondrial Complex Ii Orchestrates Divergent Effects In Cd4+ And Cd8+ T Cells, Keisuke Seike, Shih-Chun A Chu, Yuichi Sumii, Takashi Ikeda, Meng-Chih Wu, Laure Maneix, Dongchang Zhao, Yaping Sun, Marcin Cieslik, Pavan Reddy

Faculty, Staff and Students Publications

Mitochondrial metabolism orchestrates T cell functions, yet the role of specific mitochondrial components in distinct T cell subsets remains poorly understood. Here, we explored the role of mitochondrial complex II (MC II), the only complex from the electron transport chain (ETC) that plays a role in both ETC and metabolism, in regulating T cell functions. Surprisingly, MC II exerts divergent effects on CD4+ and CD8+ T cell activation and function. Using T cell-specific MC II subunit, succinate dehydrogenase A-deficient (SDHA-deficient) mice, we integrated single-cell RNA-seq and metabolic profiling, with in vitro and in vivo T cell functional assays to illuminate …

Sex-Specific Angiogenic Responses In Endothelial Cells-Role Of The Pluripotency Factor Oct4, Junchul Shin, Junyoung Hong, Iuliia Molokotina, Irene Krukovets, Ellin Kim, Svyatoslav Tkachenko, Eugene Podrez, Tatiana V Byzova, Olga A Cherepanova

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The study investigates the sex-specific effects of the pluripotency factor OCT4 deficiency in endothelial cells (ECs) on angiogenesis. OCT4 is known for its role in embryonic stem cells, but we recently found that it plays a protective role in ECs during atherosclerosis. Herein, we utilized cultured mouse aortic ECs (MAECs) and several in vivo models, including skin wounding, melanoma tumor implantation, and hindlimb ischemia, to explore the role of OCT4 in angiogenesis in both male and female mice. Our findings revealed significant sexual dimorphism in wild type mice, along with sex differences in responses to OCT4 deficiency across all three …

Stakeholder Criteria For Trust In Artificial Intelligence-Based Computer Perception Tools In Health Care: Qualitative Interview Study, Ansh Rai, Meghan E Hurley, John Herrington, Eric A Storch, Casey J Zampella, Julia Parrish-Morris, Anika Sonig, Gabriel Lázaro-Muñoz, Kristin Kostick-Quenet

Faculty, Staff and Students Publications

Background: Computer perception (CP) technologies hold significant promise for advancing precision mental health care systems, given their ability to leverage algorithmic analysis of continuous, passive sensing data from wearables and smartphones (eg, behavioral activity, geolocation, vocal features, and ambient environmental data) to infer clinically meaningful behavioral and physiological states. However, successful implementation critically depends on cultivating well-founded stakeholder trust.

Objective: This study aims to investigate, across adolescents, caregivers, clinicians, and developers, the contingencies under which CP technologies are deemed trustworthy in health care.

Methods: We conducted 80 semistructured interviews with a purposive sample of adolescents (n=20) diagnosed with autism, Tourette …

Genetic Modifiers And Ascertainment Drive Variable Expressivity Of Complex Disorders, Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Serena Noss, Deepro Banerjee, Matthew Oetjens, Hermela Shimelis, Cora M Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, Laila El Khattabi, Ingrid Van De Laar, Rafik Tadros, Connie R Bezzina, Marjon Van Slegtenhorst, Janneke Kammeraad, Paolo Prontera, Jean-Hubert Caberg, Harry Fraser, Siddharth Banka, Anke Van Dijck, Charles Schwartz, Els Voorhoeve, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Mathilde Lefebvre, Kate Pope, Penny Snell, Amber Boys, Paul J Lockhart, Myla Ashfaq, Elizabeth Mccready, Margaret Nowacyzk, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Maria Grazia Bruccheri, Giuseppa Maria Luana Mandarà, Francesca Mari, Flavia Privitera, Ilaria Longo, Aurora Curró, Alessandra Renieri, Boris Keren, Perrine Charles, Silvestre Cuinat, Mathilde Nizon, Olivier Pichon, Claire Bénéteau, Radka Stoeva, Dominique Martin-Coignard, Sophia Blesson, Cedric Le Caignec, Sandra Mercier, Marie Vincent, Christa L Martin, Katrin Mannik, Alexandre Reymond, Laurence Faivre, Erik Sistermans, R Frank Kooy, David J Amor, Corrado Romano, Joris Andrieux, Santhosh Girirajan

Faculty, Staff and Student Publications

Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants on the clinical outcomes of 2,455 individuals with primary variants. Among 124 families with the 16p12.1 deletion, distinct rare and common variant classes conferred risks for specific developmental features, including short tandem repeats for neurological defects. Network analysis suggested distinct mechanisms involving 16p12.1 genes and secondary variants specific to each proband. Within disease and population cohorts of 976 individuals with the 16p12.1 deletion, we found opposing effects of secondary variants on clinical features across ascertainments. Additional analysis of …

Patient Preferences When Selecting Their Total Joint Arthroplasty Surgeon: A Multicenter Survey Study, Jake Laverdiere, Danielle Lonati, Swaroopa Vaidya, Gregory Panza, Antonia Chen, Mary Morcos, Yale Fillingham, Jessica Leipman, Molly Hartzler, Jenna Bernstein

Rothman Institute Papers

BACKGROUND: Surgeon selection can influence patient satisfaction, outcomes, and access in total joint arthroplasty (TJA). Awareness of patient preferences enables practices to enhance trust, optimize communication, and improve adherence. While referrals and word-of-mouth recommendations often outweigh online marketing, prospective multicenter research exploring how patients choose their TJA surgeon is limited. The aim of this study was to identify key decision-making factors and how they vary by demographics.

METHODS: This prospective, multicenter cross-sectional survey study included patients undergoing elective total joint arthroplasty at 4 high-volume institutions from January 2024 to 2025. Participants completed a survey on surgeon selection, including how they …

Elevated Lactate In Aml Bone Marrow Contributes To Macrophage Polarization Via Gpr81 Signaling., Celia A Soto, Maggie L Lesch, Jennifer L Becker, Azmeer Sharipol, Amal Khan, Xenia L Schafer, Zhewen Li, Amanda R Streeter, Michael W Becker, Joshua C Munger, Benjamin J Frisch

Oncology Articles

Interactions between acute myeloid leukemia (AML) and the bone marrow microenvironment (BMME) are critical to leukemia progression and chemoresistance. In the solid tumor microenvironment, altered metabolite levels contribute to cancer progression. We performed a metabolomic analysis of AML patient bone marrow serum, revealing increased metabolites compared to age- and sex-matched controls. The most highly elevated metabolite in the AML BMME was lactate. Lactate signaling in solid tumors induces immunosuppressive tumor-associated macrophages and correlates with poor prognosis. This has not yet been studied in the leukemic BMME. Herein, we describe the role of lactate in the polarization of leukemia-associated macrophages (LAMs). …