Medical Specialties Commons^™

Broadening The Phenotypic And Molecular Spectrum Of Finca Syndrome: Biallelic Nhlrc2 Variants In 15 Novel Individuals, Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B Balci, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly Mcdonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarrad, Atieh Eslahi, Behnaz Bakaeean, Daniel G Calame, James R Lupski, Zahra Firoozfar, Seyed Mohammad Seyedhassani, Seyed Ahmad Mohammadi, Najwa Anwaar, Fatima Rahman, Dominik Seelow, Martin Janz, Denise Horn, Reza Maroofian, Felix Boschann

Faculty, Staff and Students Publications

FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13 patients from nine families with biallelic NHLRC2 variants have been published. In all of them, the recurrent missense variant p.(Asp148Tyr) was detected on at least one allele. Common manifestations included lung or muscle fibrosis, respiratory distress, developmental delay, neuromuscular symptoms and seizures often followed by early death due to rapid disease progression.

Here, we present 15 individuals from 12 families with an overlapping phenotype associated with nine novel NHLRC2 variants identified by exome analysis. All patients described here presented with …

Clinical And Functional Heterogeneity Associated With The Disruption Of Retinoic Acid Receptor Beta, Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A Lakhani, Weizhen Ji, Laurie Steiner, Julien Marcadier, Philip R Jansen, Laura A Van De Pol, Johanna M Van Hagen, Alvaro Serrano Russi, Gwenaël Le Guyader, Magnus Nordenskjöld, Ann Nordgren, Britt-Marie Anderlid, Julie Plaisancié, Corinna Stoltenburg, Denise Horn, Anne Drenckhahn, Fadi F Hamdan, Mathilde Lefebvre, Tania Attie-Bitach, Peggy Forey, Vasily Smirnov, Françoise Ernould, Marie-Line Jacquemont, Sarah Grotto, Alberto Alcantud, Alicia Coret, Rosario Ferrer-Avargues, Siddharth Srivastava, Catherine Vincent-Delorme, Shelby Romoser, Nicole Safina, Dimah Saade, James R Lupski, Daniel G Calame, David Geneviève, Nicolas Chatron, Caroline Schluth-Bolard, Kenneth A Myers, William B Dobyns, Patrick Calvas, Ddd Study, Caroline Salmon, Richard Holt, Frances Elmslie, Marc Allaire, Daniil M Prigozhin, André Tremblay, Jacques L Michaud

Faculty, Staff and Students Publications

PURPOSE: Dominant variants in the retinoic acid receptor beta (RARB) gene underlie a syndromic form of microphthalmia, known as MCOPS12, which is associated with other birth anomalies and global developmental delay with spasticity and/or dystonia. Here, we report 25 affected individuals with 17 novel pathogenic or likely pathogenic variants in RARB. This study aims to characterize the functional impact of these variants and describe the clinical spectrum of MCOPS12.

METHODS: We used in vitro transcriptional assays and in silico structural analysis to assess the functional relevance of RARB variants in affecting the normal response to retinoids.

RESULTS: We found that …

Effects Of Cathepsin S Inhibition In The Age-Related Dry Eye Phenotype, Jeremias G Galletti, Kaitlin K Scholand, Claudia M Trujillo-Vargas, Wolfgang Haap, Tiago Santos-Ferreira, Christoph Ullmer, Zhiyuan Yu, Cintia S De Paiva

Faculty, Staff and Students Publications

PURPOSE: Aged C57BL/6J (B6) mice have increased levels of cathepsin S, and aged cathepsin S (Ctss-/-) knockout mice are resistant to age-related dry eye. This study investigated the effects of cathepsin S inhibition on age-related dry eye disease.

METHODS: Female B6 mice aged 15.5 to 17 months were randomized to receive a medicated diet formulated by mixing the RO5461111 cathepsin S inhibitor or a standard diet for at least 12 weeks. Cornea mechanosensitivity was measured with a Cochet-Bonnet esthesiometer. Ocular draining lymph nodes and lacrimal glands (LGs) were excised and prepared for histology or assayed by flow cytometry to quantify …

Machine Learning Driven Index Of Tumor Multinucleation Correlates With Survival And Suppressed Anti-Tumor Immunity In Head And Neck Squamous Cell Carcinoma Patients, Can F Koyuncu, Mitchell J Frederick, Lester D R Thompson, Germán Corredor, Sirvan Khalighi, Zelin Zhang, Bolin Song, Cheng Lu, Reetoja Nag, Vidya Sankar Viswanathan, Michael Gilkey, Kailin Yang, Shlomo A Koyfman, Deborah J Chute, Patricia Castro, James S Lewis, Anant Madabhushi, Vlad C Sandulache

Faculty, Staff and Students Publications

OBJECTIVES: Matching treatment intensity to tumor biology is critical to precision oncology for head and neck squamous cell carcinoma (HNSCC) patients. We sought to identify biological features of tumor cell multinucleation, previously shown by us to correlate with survival in oropharyngeal (OP) SCC using a machine learning approach.

MATERIALS AND METHODS: Hematoxylin and eosin images from an institutional OPSCC cohort formed the training set (D

RESULTS: MuNI correlated with overall survival. A multivariable nomogram that included MuNI, age, race, sex, T/N stage, and smoking status yielded a C-index of 0.65, and MuNI was prognostic of overall survival (2.25, 1.07-4.71, 0.03), …

Deployment Of Cisplatin In Veterans With Oropharyngeal Cancer: Toxicity And Impact On Oncologic Outcomes, Ola Soliman, David C Wilde, Jan O Kemnade, Anita L Sabichi, George Chen, Albert Chen, Samantha N Little, Andrew T Huang, David J Hernandez, Vlad C Sandulache

Faculty, Staff and Students Publications

OBJECTIVE: Cisplatin forms the backbone of systemic chemotherapy treatment for oropharyngeal squamous cell carcinoma (OPSCC). The ideal cisplatin dosing regimen remains yet to be fully defined for achieving optimal efficacy and toxicity profiles in patients with comorbidity.

METHODS: We retrospectively reviewed oncologic and toxicity data for patients with OPSCC treated at the Michael E. DeBakey Veterans Affairs Medical Center between 2000 and 2020 who initiated curative intent, definitive chemo-radiation with one of three single agent regimens: high dose (HD) cisplatin, low dose (LD) cisplatin or cetuximab.

RESULTS: Patients with HPV-associated tumors and nonsmokers demonstrated improved overall and disease-free survival along …

Comparison Of Random Urine Protein/Creatinine Ratio With 24-Hour Urine Protein In Suspected Pre-Eclampsia, Lily Olayinka, Emily Garnett, Brian Burnett, Sridevi Devaraj

Faculty, Staff and Students Publications

INTRODUCTION: Proteinuria is one of the classical criteria for the diagnosis of pre-eclampsia. The gold standard remains the measurement of 24-h urine protein which is time consuming and prone to preanalytical errors. Random urine protein creatinine ratio (UPCR) is endorsed by clinical practice guidelines as a faster alternative. The aim of this study was to evaluate the correlation between the 24-h urine protein excretion and UPCR in the identification of proteinuria in suspected preeclamptic patients.

METHOD: A total of 51 women with suspected pre-eclampsia from the maternal fetal clinic of our institution were retrospectively studied. The correlation between the UPCR …

Management Of Asymptomatic Hypertension In The Inpatient Setting., Charles Meadows, Mehiar Elhamdani, Dial Larry, Murad Kheetan, Khaled Al-Baqain

Marshall Journal of Medicine

Hypertension is common in hospitalized patients and is most often asymptomatic. While there are no guidelines for management of such patients, aggressive blood pressure treatment, including the use of intravenous antihypertensives, is often undertaken. While evidence of benefit is lacking, emerging data suggest that treatment of asymptomatic hypertension in the inpatient setting is associated with adverse outcomes, including acute kidney injury and ischemic stroke. In addition, the intensification of a preexisting antihypertensive regimen at hospital discharge significantly increases the risk of readmission without significant improvement in outpatient hypertension control. Such a combination of a common problem with the demonstrable benefit …

A Commonly Misdiagnosed Rare Pulmonary Disease: Idiopathic Pleuroparenchymal Fibroelastosis, Yonas Raru, Amro K. Al-Astal, Saroj Sigdel

Marshall Journal of Medicine

Awareness among clinicians about Idiopathic pleuroparenchymal fibroelastosis (PPFE) is lacking and by the time patients are diagnosed with it, they were seen by multiple physicians and misdiagnosed multiple times. It is a rare condition that is characterized by fibrosis of the pleura and subpleural lung parenchyma, predominantly affecting the upper lobes. Most common cause of fibrosis in other processes is collagen predominant but in PPFE fibrosis is usually caused by elastic fibers. Verhoeff-Van Gieson stain from lung biopsies in patients who presented with fibrosis in the upper pleural and parenchymal areas will help in establishing the diagnosis by demonstrating the …

Penile Prosthesis Implantation After Radiation Therapy For Prostate Cancer, Joon Yau Leong, Paul Chung

Department of Urology Faculty Papers

No abstract provided.

Mönckeberg's Medial Calcific Sclerosis Makes Traditional Arterial Doppler's Unreliable In High-Risk Patients With Diabetes, Mehmet A. Suludere, Sahab K. Danesh, Amanda L. Killeen, Peter A. Crisologo, Matthew Malone, Michael C. Siah, Lawrence A. Lavery

School of Podiatric Medicine Publications

Objective

To assess Mönckeberg's medial calcific sclerosis (MMCS) severity in patients with a diabetic foot infection.

Methods

This was an analysis of 2 randomized clinical trials in which we evaluated the treatment of 233 patients admitted to the hospital for moderate and severe foot infections. Arterial calcification was defined as visible radiopaque arteries on foot and ankle radiographs, recorded as the most distal visible artery involved (toes, metatarsals, and ankle/hindfoot).

Results

Most subjects (57.1%, n = 133) had MMCS, with extension to toes in 79 (59.4%), to metatarsals in 32 (24.1%), and to ankle/hindfoot in 22 patients (16.5%). In 7 …

A Quantitative Dosimetric Comparison Of Dibh Vmat And Static-Imrt Apbi Treatments: Evaluating Large Left Sided Lumpectomy Cavities Located Near The Chest Wall, Christopher Jordan Clifton

Masters Projects

Abstract

Introduction

The main purpose of this study was to determine whether there was a significant difference between the dose distributions when comparing static-IMRT and VMAT plans for patients with large left sided lumpectomy cavities located near the chest wall while utilizing DIBH. Thorough planning and statistical analysis was performed to determine whether there was a clear advantage for either treatment technique to better benefit patient outcomes.

Methods

Ten female patients with large left sided lumpectomy cavities were selected to be retrospectively planned using both static-IMRT and VMAT plans. Each patient fell within the ASTRO eligibility criteria for APBI treatments. …

A Comparison Of Hypofractionated Radiation Therapy Breast Plans For Large Breasted Patients - Hybrid 3d Conformal, And Volumetric Modulated Arc Therapy Vs Standard Hypofractionated 3d Conformal, Kelsie Wentland

Masters Projects

Abstract

Introduction

Patients with a large breast volume are more at risk of adverse skin effects with radiation therapy. Studies concerning these patients are very limited, especially in regard to comparison of planning techniques. While traditional tangent 3D conformal radiation therapy has been the standard of care, recent literature has shown possible benefits of hybrid planning for average breast volume patients. Little has been studied regarding breast cancer patients with large breast volumes and the possible benefits of hybrid planning of this patient demographic. Creating a hybrid plan could have the benefits of both different treatment modalities to provide a …

A Dosimetric Comparison Of Jaw Tracking Versus Non-Jaw Tracking Using 6mv Vmat Treatment Beams In Prostate Patients With Involved Lymph Nodes, Rebecca Todd

Masters Projects

Introduction:

Jaw tracking is the process of the collimator jaws dynamically following the multileaf collimators during modulated therapy. Jaw tracking can be used throughout the dosimetry treatment planning process for IMRT and VMAT treatment plans. It can reduce a patient’s OAR dose by reducing low dose spillage from MLC interleaf leakage. This study aims to investigate if jaw tracking reduces OAR dose while maintaining PTV coverage in prostate patients with involved lymph nodes using 6MV VMAT treatment planning technique.

Methods:

This is a quantitative study of 10 patients. For each patient, two plans were created, one plan using a non-jaw …

Inhibition Of Microsomal Prostaglandin E2 Synthase Reduces Collagen Deposition In Melanoma Tumors And May Improve Immunotherapy Efficacy By Reducing T-Cell Exhaustion, Yasunari Fukuda, Sun-Hee Kim, Matias A Bustos, Sung-Nam Cho, Jason Roszik, Jared K Burks, Hong Kim, Dave S B Hoon, Elizabeth A Grimm, Suhendan Ekmekcioglu

Faculty, Staff and Student Publications

The arachidonic acid pathway participates in immunosuppression in various types of cancer. Our previous observation detailed that microsomal prostaglandin E2 synthase 1 (mPGES-1), an enzyme downstream of cyclooxygenase 2 (COX-2), limited antitumor immunity in melanoma; in addition, genetic depletion of mPGES-1 specifically enhanced immune checkpoint blockade therapy. The current study set out to distinguish the roles of mPGES-1 from those of COX-2 in tumor immunity and determine the potential of mPGES-1 inhibitors for reinforcing immunotherapy in melanoma. Genetic deletion of mPGES-1 showed different profiles of prostaglandin metabolites from that of COX-2 deletion. In our syngeneic mouse model, mPGES-1-deficient cells exhibited …

A Deep Learning Onion Peeling Approach To Measure Oral Epithelium Layer Number, Xinyi Zhang, Frederico O Gleber-Netto, Shidan Wang, Kevin W Jin, Donghan M Yang, Ann M Gillenwater, Jeffrey N Myers, Renata Ferrarotto, Curtis R Pickering, Guanghua Xiao

Faculty, Staff and Student Publications

Head and neck squamous cell carcinoma (HNSCC), specifically in the oral cavity (oral squamous cell carcinoma, OSCC), is a common, complex cancer that significantly affects patients' quality of life. Early diagnosis typically improves prognoses yet relies on pathologist examination of histology images that exhibit high inter- and intra-observer variation. The advent of deep learning has automated this analysis, notably with object segmentation. However, techniques for automated oral dysplasia diagnosis have been limited to shape or cell stain information, without addressing the diagnostic potential in counting the number of cell layers in the oral epithelium. Our study attempts to address this …

Recent Advances In The Treatment Of Complex Congenital Diaphragmatic Hernia-A Narrative Review, Kylie I Holden, Matthew T Harting

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVE: Congenital diaphragmatic hernia (CDH) is an anomaly of the cardiopulmonary system maturation process that results from both a global embryopathy and concomitant mechanical compression of the cardiopulmonary system from the abdominal contents during fetal maturation. This results in pulmonary hypertension, pulmonary hypoplasia, and cardiac dysfunction, requiring intense critical care management. The patients with highest risk CDH are the most challenging, resource-intensive, and bear most of the mortality. Advances at the basic, translational, and clinical research levels are leading to novel therapies and management strategies for complex, high-risk CDH. Our objective is to review novel approaches in thinking …

Potential Toxic Elements And Their Carcinogenic And Non-Carcinogenic Risk Assessment In Some Commercially Important Fish Species From A Ramsar Site, Mohammad Belal Hossain, Md Moudud Ahmed, Yeasmin Nahar Jolly, As-Ad Ujjaman Nur, Salma Sultana, Shirin Akter, Jimmy Yu, Bilal Ahamad Paray, Takaomi Arai

Faculty, Staff and Student Publications

Potentially toxic elements (PTEs) such as Hg, As, and Pb have become concentrated in the aquatic ecosystem as a result of increased human activities. However, these substances frequently have synergistic or antagonistic effects on the human body or other animals. As a result, there are concerns world-wide that commercially available food products, especially fish, may be contaminated with hazardous elements. In this study, samples of four selected fishes, Gutum (Lepidocephalichthys guntea), Baim (Macrognathus pancalus), Baila (Glossogobius giuris), Meni (Nandus nandus) were analyzed from one of the largest freshwater wetlands (designed as a …

Outcomes Of Aortic Root Replacement In Patients With Marfan Syndrome: The Role Of Valve-Sparing And Valve-Replacing Approaches, Joseph S Coselli, Irina V Volguina, Lynna Nguyen, Susan Y Green, Scott A Lemaire, Marc R Moon

Faculty, Staff and Students Publications

BACKGROUND: Marfan syndrome (MFS) is a heritable thoracic aortic disease with pervasive cardiovascular effects, including commonly, a dilated aortic root. Traditionally, the root is replaced using a mechanical composite valve graft (CVG); however, this valve-replacing (VR) approach necessitates a lifelong regimen of anticoagulation with a potential for late bleeding complications. In time, valve-sparing (VS) approaches were developed. Today, several options for aortic root replacement (ARR) exist; each has advantages and disadvantages that helps inform choice. The Aortic Valve Operative Outcomes in Marfan Patients (AVOMP) is a multi-center international registry to analyze clinical outcomes of ARR in MFS patients using either …

Artificial Intelligence Frameworks To Detect And Investigate The Pathophysiology Of Spaceflight Associated Neuro-Ocular Syndrome (Sans), Joshua Ong, Ethan Waisberg, Mouayad Masalkhi, Sharif Amit Kamran, Kemper Lowry, Prithul Sarker, Nasif Zaman, Phani Paladugu, Alireza Tavakkoli, Andrew G Lee

Faculty, Staff and Student Publications

Spaceflight associated neuro-ocular syndrome (SANS) is a unique phenomenon that has been observed in astronauts who have undergone long-duration spaceflight (LDSF). The syndrome is characterized by distinct imaging and clinical findings including optic disc edema, hyperopic refractive shift, posterior globe flattening, and choroidal folds. SANS serves a large barrier to planetary spaceflight such as a mission to Mars and has been noted by the National Aeronautics and Space Administration (NASA) as a high risk based on its likelihood to occur and its severity to human health and mission performance. While it is a large barrier to future spaceflight, the underlying …

The New World Of Rna Diagnostics And Therapeutics, Giovanni Blandino, Roberto Dinami, Marco Marcia, Eleni Anastasiadou, Brid M Ryan, Alina Catalina Palcau, Luigi Fattore, Giulia Regazzo, Rosanna Sestito, Rossella Loria, Ana Belén Díaz Méndez, Maria Chiara Cappelletto, Claudio Pulito, Laura Monteonofrio, George A Calin, Gabriella Sozzi, Jit Kong Cheong, Ranit Aharonov, Gennaro Ciliberto

Faculty, Staff and Student Publications

The 5th Workshop IRE on Translational Oncology was held in Rome (Italy) on 27-28 March at the IRCCS Regina Elena National Cancer Institute. This meeting entitled "The New World of RNA diagnostics and therapeutics" highlightes the significant progress in the RNA field made over the last years. Research moved from pure discovery towards the development of diagnostic biomarkers or RNA-base targeted therapies seeking validation in several clinical trials. Non-coding RNAs in particular have been the focus of this workshop due to their unique properties that make them attractive tools for the diagnosis and therapy of cancer.This report collected the presentations …

Automated Capture And Analysis Of Circulating Tumor Cells In Pediatric, Adolescent And Young Adult Patients With Central Nervous System Tumors, Wafik Zaky, Dristhi Ragoonanan, Izhar Batth, Long Dao, Jian Wang, Xueqing Xia, Najat C Daw, Jonathan B Gill, Soumen Khatua, Shulin Li

Faculty, Staff and Student Publications

Tumors of the central nervous system (CNS) are the most common and lethal childhood malignancy. Detection of residual disease and longitudinal monitoring of treatment response in patients are challenging and rely on serial imaging. This current standard of care fails to detect microscopic disease or provide molecular characteristics of residual tumors. As such, there is dire need for minimally invasive liquid biopsy techniques. We have previously shown the high specificity of using cell surface vimentin (CSV) to identify circulating tumor cells (CTCs) from patients bearing various types of cancers. Here, we describe the first report of CTCs captured from peripheral …

A Chinese Scoring System For Predicting Successful Retrograde Collateral Traverse In Patients With Chronic Total Coronary Occlusion, Qiu Yu Li, Xiao Long Lin, Fan Qi Li, Zi Chao Cheng, Jia Yu Tian, Dong Hui Zhao, Wayne Bond Lau, Jing Hua Liu, Qian Fan

Department of Emergency Medicine Faculty Papers

BACKGROUND: Retrograde approach technique has been challenging in percutaneous coronary interventional treatment of chronic total occlusion (CTO) coronary disease. The present study endeavors to determine a novel Chinese scoring system for predicting successful collateral channels traverse via retrograde approach.

METHODS: The demographic characteristics and angiographic characteristics of 309 CTO patient were analyzed by univariable and multivariable analysis for selecting potential predictors. And the nomogram was used to establish the scoring system. Then it was evaluated by the internal and external validation.

RESULTS: The predictors of Age, Connections between collateral channels and recipient vessels, and Channel Tortuosity (ACT) were identified with …

Primary Adrenal Angiosarcoma: A Case Report And Review Of The Literature, Zunaira Naeem, Joon Yau Leong, Arianna Morton, Alaa Hrizat, Eric Shiffrin, Andrew Gomella, Peter Mccue, Mark Mann, Li Li

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Primary adrenal angiosarcoma is an extremely rare malignant tumor with challenging diagnosis. A 66-year-old woman had a 4.3 cm right adrenal mass suspicious for adrenal cortical carcinoma. Pathological examination demonstrated a hemorrhagic adrenal cyst with numerous irregularly shaped anastomosing vascular channels lined by atypical endothelial cells that had frequent atypical mitotic figures (12/10 HPF, Ki67 10%). The tumor cells were positive for CD31, ERG, and FLI-1, but negative for adrenal and other tumor lineage markers by immunohistochemistry. NGS fusion gene testing ruled out epithelioid hemangioendothelioma. Accurate diagnosis and differential inclusion are important for appropriate treatment of this rare tumor.

Addressing Wounded Healers’ Burnout And Moral Distress: Starts And Ends With Integrity, Tessy A Thomas, Frank Daniel Davis, Satid Thammasitboon

Faculty, Staff and Students Publications

No abstract provided.

The Role Of Fas Receptor Methylation In Osteosarcoma Metastasis, Jiayi M Sun, Wing-Yuk Chow, Gufeng Xu, M John Hicks, Manjula Nakka, Jianhe Shen, Patrick Kwok Shing Ng, Aaron M Taylor, Alexander Yu, Jason E Farrar, Donald A Barkauskas, Richard Gorlick, Jaime M Guidry Auvil, Daniela Gerhard, Paul Meltzer, Rudy Guerra, Tsz-Kwong Man, Ching C Lau, On Behalf Of The Target Osteosarcoma Consortium

Faculty, Staff and Students Publications

Osteosarcoma is the most frequent primary malignant bone tumor with an annual incidence of about 400 cases in the United States. Osteosarcoma primarily metastasizes to the lungs, where FAS ligand (FASL) is constitutively expressed. The interaction of FASL and its cell surface receptor, FAS, triggers apoptosis in normal cells; however, this function is altered in cancer cells. DNA methylation has previously been explored as a mechanism for altering FAS expression, but no variability was identified in the CpG island (CGI) overlapping the promoter. Analysis of an expanded region, including CGI shores and shelves, revealed high variability in the methylation of …

Association Of Delirium And Depression With Respiratory And Outcome Measures In Covid-19 Inpatients, Alessio Simonetti, Cristina Pais, Vezio Savoia, Maria Camilla Cipriani, Matteo Tosato, Delfina Janiri, Evelina Bernardi, Ottavia Marianna Ferrara, Stella Margoni, Georgios D Kotzalidis, Daniela Chieffo, Massimo Fantoni, Rosa Liperoti, Francesco Landi, Roberto Bernabei, Gabriele Sani

Faculty, Staff and Students Publications

Delirium (DEL) and depression (DEP) may impair the course and severity of acute respiratory illness. The impact of such syndromes on respiratory and outcome parameters in inpatients with COVID-19 needs clarification. To clarify the relationship between DEL and DEP and respiratory outcome measures, we enrolled 100 inpatients from COVID-19 units of the Fondazione Policlinico Universitario Agostino Gemelli IRCCS of Rome. Participants were divided into those with DEL, DEP, or absence of either delirium or depression (CONT). Delirium severity was assessed with the Neelson and Champagne Confusion Scale (NEECHAM). Psychopathology was assessed with the Hamilton Rating Scale for Depression (HAM-D), the …

Optimizing The Timing Of Biologic And Surgical Therapy For Patients With Refractory Chronic Rhinosinusitis With Nasal Polyposis (Crswnp), Emily Garvey, Bita Naimi, Alexander Duffy, Paavali Hannikainen, Chase Kahn, Douglas Farquhar, Marc Rosen, Mindy R. Rabinowitz, Elina Toskala, Gurston G. Nyquist

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

INTRODUCTION: Chronic rhinosinusitis with nasal polyposis (CRSwNP) is often treated with endoscopic sinus surgery (ESS); however, patients may require revision surgery due to recurrence. To date, no studies have compared outcomes for combined surgery and biologic therapy for CRSwNP compared with biologic therapy alone.

METHODS: Retrospective case-control study of CRSwNP patients who underwent ESS while on dupilumab or mepolizumab (ESS-biologic cohort) compared with CRSwNP patients on biologic therapy (biologic-only controls). Cohorts were matched according to indication, aspirin-exacerbated respiratory disease (AERD), sinonasal outcome test-22 (SNOT-22), and total polyp scores.

RESULTS: Sixteen patients underwent ESS while on biologic therapy (13 dupilumab and …

C9orf72 Poly(Pr) Mediated Neurodegeneration Is Associated With Nucleolar Stress, M. E. Cicardi, J. H. Hallgren, D. Mawrie, K. Krishnamurthy, S. S. Markandaiah, A. T. Nelson, V. Kankate, E. N. Anderson, P. Pasinelli, U. B. Pandey, C. M. Eischen, D. Trotti

Farber Institute for Neuroscience Faculty Papers

The ALS/FTD-linked intronic hexanucleotide repeat expansion in the C9orf72 gene is aberrantly translated in the sense and antisense directions into dipeptide repeat proteins, among which poly proline-arginine (PR) displays the most aggressive neurotoxicity in-vitro and in-vivo. PR partitions to the nucleus when heterologously expressed in neurons and other cell types. We show that by lessening the nuclear accumulation of PR, we can drastically reduce its neurotoxicity. PR strongly accumulates in the nucleolus, a nuclear structure critical in regulating the cell stress response. We determined that, in neurons, PR caused nucleolar stress and increased levels of the transcription factor p53. …

The Prevalence Of Diabetes In Juveniles, Tatyana Johnson

Graduate Student Dissertations, Theses, Capstones, and Portfolios

Diabetes mellitus, simply known as diabetes, is a metabolic disorder that impacts how the body makes use of glucose or blood sugar. Glucose is the primary supply of energy for the body’s cells, which is controlled by insulin, a pancreatic hormone. Diabetes results in high blood glucose levels (hyperglycemia), which are caused by either insufficient insulin production by the pancreas or ineffective insulin utilization by the body (Dean & McEntyre, 2004). Although there are several types of diabetes, the two main types are type 1 and type 2. Type 1, also known as juvenile diabetes, is an inflammatory condition in …

Aggressive End-Of-Life Care Across Gradients Of Cognitive Impairment In Nursing Home Patients With Metastatic Cancer, Siran M. Koroukian, Sara L. Douglas, Long Vu, Hannah L. Fein, Nicholas K. Schiltz, Jennifer Cullen, Cynthia Owusu, Martha Sajatovic, Johnie Rose

Faculty Scholarship

Background: Studies examining end-of-life (EOL) care in older cancer patients are scarce, and prior studies have not accounted for gradients of cognitive impairment (COG-I). We examine EOL care patterns across COG-I gradients, hypothesizing that greater COG-I severity is associated with lower odds of receiving aggressive EOL care. Methods: Using data from the linked Surveillance Epidemiology and End Results (SEER) -Medicare -Minimum Data Set (MDS) 3.0, we identified patients with nursing facility stays (NFS) and who died with metastatic cancer from 2013 to 2017. Markers of aggressive EOL care were: cancer-directed treatment, intensive care unit admission, >1 emergency department visit, or …