Medical Specialties Commons^™

Allergic Bronchopulmonary Aspergillosis: Radiological And Microbiological Profile Of Patients Presented In An Outpatient Pulmonary Clinic In A Developing Country, Nousheen Iqbal, Muhammad Irfan, Mustafa Bin Ali Zubairi, Maaha Ayub, Safia Awan, Kauser Jabeen, Ali Bin Sarwar Zubairi

Section of Pulmonary & Critical Care

There is limited data available about allergic bronchopulmonary aspergillosis (ABPA) in Pakistan. The aim of the study was to describe the radiological and microbiological profile of ABPA patients presenting to the outpatient pulmonary clinic of a tertiary care hospital in Karachi, Pakistan. A retrospective study was conducted on ABPA patients who presented to the pulmonary outpatient clinic at Aga Khan University Hospital, Karachi, Pakistan, from January 2017 to December 2019. Data was collected on microbiology and radiology features on predesigned proforma. A total of 7759 asthmatic patients presented at the outpatient pulmonology clinic during the study period. Of the 245 …

Covid-19 Breakthrough Infections In Type 1 Diabetes Mellitus: A Cross-Sectional Study By The Covid-19 Vaccination In Autoimmune Diseases (Covad) Group, Suhrud Panchawagh, Naveen Ravichandran, Bhupen Barman, Arvind Nune, Mahnoor Javaid, Abraham Edgar Gracia-Ramos, Jessica Day, Mrudula Joshi, Masataka Kuwana, Sreoshy Saha

Medical College Documents

To investigate the frequency, profile, and severity of COVID-19 breakthrough infections (BI) in patients with type I diabetes mellitus (T1DM) compared to healthy controls (HC) after vaccination. The second COVID-19 Vaccination in Autoimmune Diseases (COVAD-2) survey is a multinational cross-sectional electronic survey which has collected data on patients suffering from various autoimmune diseases including T1DM. We performed a subgroup analysis on this cohort to investigate COVID-19 BI characteristics in patients with T1DM. Logistic regression with propensity score matching analysis was performed. A total of 9595 individuals were included in the analysis, with 100 patients having T1DM. Among the fully vaccinated …

Alt Free Flap Coverage After Carotid Endarterectomy In The Setting Of Severe Radiation Changes, Richard F. Guidry, Hannah E. Doran, Mark W. Stalder

School of Medicine Faculty Publications

Carotid endarterectomy with patch angioplasty is commonly performed for severe atherosclerotic disease to reduce stroke risk. After neck radiation, loss of tissue planes; reactive fibrosis of skin; contraction; and rarely, necrosis of skin may occur, leading to severe wound complications and possible exposure of carotid artery reconstruction. Historically, local myocutaneous flaps have been performed to provide soft tissue coverage; however, these procedures may be associated with increased donor site morbidity and can be affected by radiation changes. This report describes the novel use of a fasciocutaneous free flap for durable vascularized soft tissue, and the associated secondary benefit of improved …

Novel Urine Cell-Free Dna Methylation Markers For Hepatocellular Carcinoma, Selena Lin, Wei Xia, Amy Kim, Dion Chen, Shelby Schleyer, Lin Choi, Zhili Wang, James Hamilton, Harry Luu, Hie-Won Hann, Ting-Tsung Chang, Chi-Tan Hu, Abashai Woodard, Terence Gade, Ying-Hsiu Su

Division of Gastroenterology and Hepatology Faculty Papers

An optimized hepatocellular carcinoma (HCC)-targeted methylation next generation sequencing assay was developed to discover HCC-associated methylation markers directly from urine for HCC screening. Urine cell-free DNA (ucfDNA) isolated from a discovery cohort of 31 non-HCC and 30 HCC was used for biomarker discovery, identifying 29 genes with differentially methylated regions (DMRs). Methylation-specific qPCR (MSqPCR) assays were developed to verify the selected DMRs corresponding to 8 genes (GRASP, CCND2, HOXA9, BMP4, VIM, EMX1, SFRP1, and ECE). Using archived ucfDNA, methylation of GRASP, HOXA9, BMP4, and ECE1, were found to be significantly different (p < 0.05) between HCC and non-HCC patients. The four markers together with previously reported GSTP1 and RASSF1A markers were assessed as a 6-marker panel in an independent training cohort of 87 non-HCC and 78 HCC using logistic regression modeling. AUROC of 0.908 (95% CI, 0.8656-0.9252) was identified for the 6-marker panel with AFP, which was significantly higher than AFP-alone (AUROC 0.841 (95% CI, 0.778-0.904), p = 0.0026). Applying backward selection method, a 4-marker panel was found to exhibit similar performance to the 6-marker panel with AFP having 80% sensitivity compared to 29.5% by AFP-alone at a specificity of 85%. This study supports the potential use of methylated transrenal ucfDNA for HCC screening.

Fluorescent Peptide For Detecting Factor Xiiia Activity And Fibrin In Whole Blood Clots Forming Under Flow, Yue Liu, Jennifer Crossen, Timothy J. Stalker, Scott L. Diamond

Cardeza Foundation for Hematologic Research

Background

During clotting, thrombin generates fibrin monomers and activates plasma-derived transglutaminase factor (F) XIIIa; collagen and thrombin-activated platelets offer thrombin-independent cellular FXIIIa (cFXIIIa) for clotting. Detecting fibrin on collagen and tissue factor surfaces in whole blood clotting typically uses complex reagents like fluorescent fibrinogen or antifibrin antibody.

Objectives

We want to test whether the peptide using the α2- antiplasmin crosslinking mechanism by FXIIIa is a useful tool in both monitoring FXIIIa activity, and visualize and monitor fibrin formation, deposition, and extent of crosslinking within fibrin structures in whole blood clots formed under flow.

Methods

We tested a fluorescent peptide derived …

Whole Genome Analysis Of Snv And Indel Polymorphism In Common Marmosets (Callithrix Jacchus), R Alan Harris, Muthuswamy Raveendran, Wes Warren, Hillier W Ladeana, Chad Tomlinson, Tina Graves-Lindsay, Richard E Green, Jenna K Schmidt, Julia C Colwell, Allison T Makulec, Shelley A Cole, Ian H Cheeseman, Corinna N Ross, Saverio Capuano, Evan E Eichler, Jon E Levine, Jeffrey Rogers

Faculty, Staff and Students Publications

The common marmoset (Callithrix jacchus) is one of the most widely used nonhuman primate models of human disease. Owing to limitations in sequencing technology, early genome assemblies of this species using short-read sequencing suffered from gaps. In addition, the genetic diversity of the species has not yet been adequately explored. Using long-read genome sequencing and expert annotation, we generated a high-quality genome resource creating a 2.898 Gb marmoset genome in which most of the euchromatin portion is assembled contiguously (contig N50 = 25.23 Mbp, scaffold N50 = 98.2 Mbp). We then performed whole genome sequencing on 84 marmosets …

Rab1a Haploinsufficiency Phenocopies The 2p14-P15 Microdeletion And Is Associated With Impaired Neuronal Differentiation, Jonathan J Rios, Yang Li, Nandina Paria, Ryan J Bohlender, Chad Huff, Jill A Rosenfeld, Pengfei Liu, Weimin Bi, Kentaro Haga, Mitsunori Fukuda, Shayal Vashisth, Kiran Kaur, Maria H Chahrour, Michael B Bober, Angela L Duker, Farah A Ladha, Neil A Hanchard, Kristhen Atala, Anas M Khanshour, Linsley Smith, Carol A Wise, Mauricio R Delgado

Faculty, Staff and Student Publications

Hereditary spastic parapareses (HSPs) are clinically heterogeneous motor neuron diseases with variable age of onset and severity. Although variants in dozens of genes are implicated in HSPs, much of the genetic basis for pediatric-onset HSP remains unexplained. Here, we re-analyzed clinical exome-sequencing data from siblings with HSP of unknown genetic etiology and identified an inherited nonsense mutation (c.523C>T [p.Arg175Ter]) in the highly conserved RAB1A. The mutation is predicted to produce a truncated protein with an intact RAB GTPase domain but without two C-terminal cysteine residues required for proper subcellular protein localization. Additional RAB1A mutations, including two frameshift mutations and …

Integrating Stakeholder Feedback Into The Design Of A Peer-Delivered Primary Care Wellness Program: A Rapid Qualitative Study, Emily M. Johnson, Kyle Possemato, Matthew Chinman, Gala True, Jacob Hedges, Brittany N. Hampton, E. Jennifer Edelman, Stephen A. Maisto

School of Medicine Faculty Publications

Background: Individuals seen in Primary Care with behavioral health concerns who decline behavioral health treatment may benefit from the support of peers (consumers in recovery from behavioral health concerns employed to support other consumers). Whole Health STEPS is a new intervention for Veterans in Primary Care with behavioral health concerns which combines essential elements of peers’ role and the Whole Health model using a stepped-care design. We incorporated stakeholder feedback in the Whole Health STEPS design to improve fit with Veterans, peers, and primary care settings. Methods: We conducted semi-structured qualitative interviews with VA staff using questions derived from the …

Lessons Learnt In The First Year Of An Australian Pediatric Cardio Oncology Clinic., Claudia Toro, Ben Felmingham, Mangesh Jhadav, David S. Celermajer, Andre La Gerche, John O'Sullivan, Sanjeev Kumar, Marion K. Mateos, Joy M. Fulbright, Dinisha Govender, Lane Collier, Michael Cheung, David D. Eisenstat, Peter W. Lange, Julian Ayer, David A. Elliott, Rachel Conyers

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Modern oncological therapies together with chemotherapy and radiotherapy have broadened the agents that can cause cardiac sequelae, which can manifest for pediatric oncology patients while on active treatment. Recommendations for high-risk patients who should be monitored in a pediatric cardio-oncology clinic have previously been developed by expert Delphi consensus by our group. In 2022 we opened our first multidisciplinary pediatric cardio-oncology clinic adhering to these recommendations in surveillance and management.

OBJECTIVES: Our pediatric cardio-oncology clinic aimed to: (i) Document cardiovascular toxicities observed within a pediatric cardio-oncology clinic and. (ii) Evaluate the applicability of the Australian and New Zealand Pediatric …

Archery: A Prospective Observational Study Of Artificial Intelligence-Based Radiotherapy Treatment Planning For Cervical, Head And Neck And Prostate Cancer – Study Protocol, Ajay Aggarwal, Laurence Edward Court, Peter Hoskin, Isabella Jacques, Mariana Kroiss, Sarbani Laskar, Yolande Lievens, Indranil Mallick, Rozita Abdul Malik, Elizabeth Miles, Issa Mohamad, Claire Murphy, Matthew Nankivell, Jeannette Parkes, Mahesh Parmar, Carol Roach, Hannah Simonds, Julie Torode, Barbara Vanderstraeten, Ruth Langley

Faculty, Staff and Student Publications

INTRODUCTION: Fifty per cent of patients with cancer require radiotherapy during their disease course, however, only 10%-40% of patients in low-income and middle-income countries (LMICs) have access to it. A shortfall in specialised workforce has been identified as the most significant barrier to expanding radiotherapy capacity. Artificial intelligence (AI)-based software has been developed to automate both the delineation of anatomical target structures and the definition of the position, size and shape of the radiation beams. Proposed advantages include improved treatment accuracy, as well as a reduction in the time (from weeks to minutes) and human resources needed to deliver radiotherapy. …

Novel Insights Into The Pathogenesis Of Human Post-Primary Tuberculosis From Archival Material Of The Pre-Antibiotic Era, 1931-1947, Syeda Mariam Riaz, Kurt Hanevik, Lars Helgeland, Lisbet Sviland, Robert L Hunter, Tehmina Mustafa

Faculty, Staff and Student Publications

OBJECTIVES: Primary and post-primary tuberculosis (TB) are distinct entities. The aim of this study was to study the histopathology of primary and post-primary TB by using the unique human autopsy material from the pre-antibiotic era, 1931-1947.

MATERIAL AND METHODS: Autopsy data were collected from the autopsy journals, and the human tissue was collected from the pathology archives at the Department of Pathology, the Gades Institute.

RESULTS: Histological presentations of TB lesions showed great diversity within a single lung. Post-primary TB starts as a pneumonia forming early lesions, characterized by the infiltration of foamy macrophages containing mycobacterial antigens within alveoli, and …

Applying Occupation-Centered Coaching For Caregivers Of Children With Disabilities, Ali S. Gregory, Mary A. Smith Phd, Otr/L, Mary E. Godman Otd, Ms

Fall 2023 Virtual OTD Capstone Symposium

Statement of the problem: Caregivers of children with disabilities (CWD) experience stress, mental health conditions, sleep disruption, and fatigue leading to decreased occupational engagement and family community participation.

Purpose Statement: This project applied Occupation-Centered Coaching with a family-centered approach to promote caregiver empowerment, advocacy for mental health services, and family community participation.

Biomarkers For Heart Failure Prediction And Prevention, Prasanti Alekhya Kotta, Vijay Nambi, Biykem Bozkurt

Faculty, Staff and Students Publications

Heart failure (HF) is a global pandemic affecting over 64 million people worldwide. Its prevalence is on an upward trajectory, with associated increasing healthcare expenditure. Organizations including the American College of Cardiology (ACC) and the American Heart Association (AHA) have identified HF prevention as an important focus. Recently, the ACC/AHA/Heart Failure Society of America (HFSA) Guidelines on heart failure were updated with a new Class IIa, Level of Evidence B recommendation for biomarker-based screening in patients at risk of developing heart failure. In this review, we evaluate the studies that have assessed the various roles and contributions of biomarkers in …

Do We Still Need Aspirin In Coronary Artery Disease?, Muhammad Haisum Maqsood, Glenn N Levine, Neal D Kleiman, David Hasdai, Barry F Uretsky, Yochai Birnbaum

Faculty, Staff and Students Publications

Aspirin has for some time been used as a first-line treatment for acute coronary syndromes, including ST-elevation myocardial infarction, for secondary prevention of established coronary disease, and for primary prevention in patients at risk of coronary artery disease. Although aspirin has been in use for decades, the available evidence for its efficacy largely predates the introduction of other drugs, such as statins and P2Y12 inhibitors. Based on recent trials, the recommendation for aspirin use as primary prevention has been downgraded. In addition, P2Y12 inhibitors given as a single antiplatelet therapy have been associated with a lower incidence of bleeding than …

Delayed Giant Pseudoaneurysm With Left-To-Right Shunt Following Postinfarct Ventricular Septal Perforation Repair, Yojiro Machii, Makoto Taoka, Yuki Hayashi, Atsushi Harada, Keita Kamata, Masashi Tanaka

The Texas Heart Institute Journal

Left ventricular pseudoaneurysm with a left-to-right shunt is extremely rare, requiring surgery if symptomatic; however, surgery has a high risk. Here, the case of a 77-year-old man with heart failure symptoms is reported, in which he develops a giant left ventricular pseudoaneurysm 16 months after ventricular septal perforation repair as a result of acute myocardial infarction, with mild shunt blood flow from the pseudoaneurysm to the right ventricle. Intraoperative findings showed a free wall rupture along the area where the patch was secured during the initial surgery. The patient was discharged on postoperative day 13, and postoperative examination revealed no …

Pediatric Parosteal Osteosarcoma Of The Distal Radius Causing Extensive Erosive Mass Effect Of The Adjacent Ulna: A Case Report, Andrea Perloff, Sehoon Park, Robert Panganiban, John Devries

Department of Orthopaedics Faculty Research

Introduction: Parosteal osteosarcomas are low-grade bony malignancies that are treated primarily with surgical resection and reconstruction. This report discusses a unique case of a pediatric patient who presented with a parosteal osteosarcoma of the distal radius causing extensive erosive mass effect and growth disturbance of the adjacent ulna. Likely due to their slow-growing nonaggressive nature, parosteal osteosarcomas have not been previously described to abut adjacent bony structures through direct contact. The patient presented in a significantly delayed manner due to social circumstances, inadvertently revealing this novel behavior. This report reviews this rare case and describes the current understanding of this …

Robotic-Assisted Navigation For Stereotactic Neurosurgery: A Cadaveric Investigation Of Accuracy, Time, And Radiation, William Anderson, Francisco Ponce, Michael Kinsman, Sepehr Sani, Brian Hwang, Diana Ghinda, Michael Kogan, Jonathan M Mahoney, Dhara Amin, Margaret Van Horn, Joshua Mcguckin, Dominic Razo-Castaneda, Brandon Bucklen

Department of Neurosurgery Faculty Papers

BACKGROUND AND OBJECTIVES: Despite frequent use, stereotactic head frames require manual coordinate calculations and manual frame settings that are associated with human error. This study examines freestanding robot-assisted navigation (RAN) as a means to reduce the drawbacks of traditional cranial stereotaxy and improve targeting accuracy.

METHODS: Seven cadaveric human torsos with heads were tested with 8 anatomic coordinates selected for lead placement mirrored in each hemisphere. Right and left hemispheres of the brain were randomly assigned to either the traditional stereotactic arc-based (ARC) group or the RAN group. Both target accuracy and trajectory accuracy were measured. Procedural time and the …

Effects Of A Preventive Mental Health Curriculum Embedded Into A Scholarly Gaming Course On Adolescent Self-Esteem: Prospective Matched Pairs Experiment., Christopher Jenson, Sharon Fitzgerald Wolff, Libby Milkovich

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Positive self-esteem predicts happiness and well-being and serves as a protective factor for favorable mental health. Scholarly gaming within the school setting may serve as a channel to deliver a mental health curriculum designed to improve self-esteem.

OBJECTIVE: This study aims to evaluate the impact of a scholarly gaming curriculum with and without an embedded preventive mental health curriculum, Mental Health Moments (MHM), on adolescents' self-esteem.

METHODS: The scholarly gaming curriculum and MHM were developed by 3 educators and a school-based health intervention expert. The scholarly gaming curriculum aligned with academic guidelines from the International Society for Technology Education, …

The Classification Of Obesity Based On Metabolic Status Redefines The Readmission Of Non-Hodgkin’S Lymphoma-An Observational Study, Hang Dong, Honglin Guo, Jing Du, Yiping Cheng, Dawei Wang, Junming Han, Zinuo Yuan, Zhenyu Yao, Ran An, Xiaoqin Wu, Kyle L Poulsen, Zhixiang Wang, Shanshan Shao, Xiude Fan, Zhen Wang, Jiajun Zhao

Faculty, Staff and Student Publications

Background: The relationship between obesity and non-Hodgkin's lymphoma (NHL) was controversial, which may be due to the crudeness definition of obesity based on body mass index (BMI). As obesity and metabolic abnormalities often coexist, we aimed to explore whether the classification of obesity based on metabolic status can help to evaluate the real impact of obesity on the readmission of NHL.

Methods: In this retrospective cohort study, utilizing the 2018 Nationwide Readmissions Database, we identified NHL-related index hospitalizations and followed them for non-elective readmission. The patients with NHL were classified as metabolically healthy non-obese (MHNO) and obese (MHO) and metabolically …

Effectiveness Of Conservative Management Versus Laparoscopic Cholecystectomy In The Prevention Of Recurrent Symptoms And Complications In Adults With Uncomplicated Symptomatic Gallstone Disease (C-Gall Trial): Pragmatic, Multicentre Randomised Controlled Trial, Irfan Ahmed, Jemma Hudson, Karen Innes, Rodolfo Hernández, Katie Gillies, Rebecca Bruce, Victoria Bell, Alison Avenell, Jane Blazeby, Miriam Brazzelli, Seonaidh Cotton, Bernard Croal, Mark Forrest, Graeme Maclennan, Peter Murchie, Samantha Wileman, Craig Ramsay, C-Gall Study Group

Faculty, Staff and Student Publications

OBJECTIVE: To assess the clinical and cost effectiveness of conservative management compared with laparoscopic cholecystectomy for the prevention of symptoms and complications in adults with uncomplicated symptomatic gallstone disease.

DESIGN: Parallel group, pragmatic randomised, superiority trial.

SETTING: 20 secondary care centres in the UK.

PARTICIPANTS: 434 adults (>18 years) with uncomplicated symptomatic gallstone disease referred to secondary care, assessed for eligibility between August 2016 and November 2019, and randomly assigned (1:1) to receive conservative management or laparoscopic cholecystectomy.

INTERVENTIONS: Conservative management or surgical removal of the gallbladder.

MAIN OUTCOME MEASURES: The primary patient outcome was quality of life, measured …

Correction Of Spinal Sagittal Alignment After Posterior Lumbar Decompression: Does Severity Of Central Canal Stenosis Matter?, Delano Trenchfield, Yunsoo Lee, Mark J. Lambrechts, Nicholas D'Antonio, Jeremy Heard, John Paulik, Sydney Somers, Jeffrey Rihn, Mark Kurd, David Kaye, Jose Canseco, Alan Hilibrand, Alex Vaccaro, Christopher K Kepler, Gregory Schroeder

Rothman Institute Papers

STUDY DESIGN: This study adopted a retrospective study design.

PURPOSE: Our study aimed to investigate the impact of central canal stenosis severity on surgical outcomes and lumbar sagittal correction after lumbar decompression.

OVERVIEW OF LITERATURE: Studies have evaluated sagittal correction in patients with central canal stenosis after lumbar decompression and the association of stenosis severity with worse preoperative sagittal alignment. However, none have evaluated the impact of spinal stenosis severity on sagittal correction.

METHODS: Patients undergoing posterior lumbar decompression (PLD) of ≤4 levels were divided into severe and non-severe central canal stenosis groups based on the Lee magnetic resonance imaging …

Variability In Provider Assessment Of Sepsis And Potential Of Host Response Technology To Address This Dilemma—Results Of An Online Delphi Study, Chadd K. Kraus, Hollis R. O’Neal, Nathan A. Ledeboer, Todd W. Rice, Wesley H. Self, Richard E. Rothman

School of Medicine Faculty Publications

Potentially septic patients have a huge clinical and economic impact on hospitals and often present to the emergency department (ED) with undifferentiated symptoms. The triage of these patients is complex and has historically relied heavily upon provider judgment. This study aims to evaluate the consistency of provider judgment and the potential of a new host response sepsis test to aid in the triage process. A modified Delphi study involving 26 participants from multiple specialties was conducted to evaluate provider agreement about sepsis risk and to test proposed actions based on the results of a sepsis test. The participants considered case …

Antiseizure Effects Of Peganum Harmala L. And Lavandula Angustifolia, Zahra Rahimian, Seyedhassan Sadrian, Mina Shahisavandi, Hadi Aligholi, Mohammad M. Zarshenas, Alireza Abyar, Zahra Zeraatpisheh, Ali A. Asadi-Pooya

Department of Neurology Faculty Papers

Peganum harmala L. and Lavandula angustifolia are two traditional herbs with probable antiseizure effects. This study evaluated the effects of these two herbal extracts on pentylenetetrazol- (PTZ-) induced seizures in mice. We prepared hydroalcoholic extracts using P. harmala seeds and the aerial parts of L. angustifolia and then randomly divided 190 mice into 19 groups. Normal saline (10 mg/kg), diazepam (2 mg/kg), P. harmala (2.5, 5, 10, 15, 30, 45, and 60 mg/kg), and L. angustifolia (200, 400, 600, and 800 mg/kg) were intraperitoneally (IP) administrated 30 min before an IP administration of PTZ (90 mg/kg). Animals were observed for …

Inhibition Of Neurogenic Inflammatory Pathways Associated With The Reduction In Discogenic Back Pain, Jose A. Canseco, Hannah A. Levy, Brian A. Karamian, Olivia Blaber, Michael Chang, Neil Patel, John G. Curran, Alan S. Hilibrand, Gregory D. Schroeder, Alex R. Vaccaro, Dessislava Z. Markova, David E. Surrey, Christopher K. Kepler

Rothman Institute Papers

STUDY DESIGN: Retrospective cohort study.

PURPOSE: This study aimed to determine whether the initiation of anti-calcitonin gene-related peptide (CGRP inhibitor) medication therapy for migraines was also associated with improvements in back/neck pain, mobility, and function in a patient population with comorbid degenerative spinal disease and migraine.

OVERVIEW OF LITERATURE: CGRP upregulates pro-inflammatory cytokines such as tumor necrosis factor-α, interleukin-6, brain-derived neurotrophic factor, and nerve growth factor in spinal spondylotic disease, which results in disc degeneration and sensitization of nociceptive neurons. Although CGRP inhibitors can quell neurogenic inflammation in migraines, their off-site efficacy as a therapeutic target for discogenic back/neck pain …

Trends In Ductus Arteriosus Stent Versus Blalock-Taussig-Thomas Shunt Use And Comparison Of Cost, Length Of Stay, And Short-Term Outcomes In Neonates With Ductal-Dependent Pulmonary Blood Flow: An Observational Study Using The Pediatric Health Information Systems Database, Bethan A Lemley, Lezhou Wu, Amy L Roberts, Russell T Shinohara, William O Quarshie, Athar M Qureshi, Christopher L Smith, Yoav Dori, Matthew J Gillespie, Jonathan J Rome, Andrew C Glatz, Sandra Amaral, Michael L O'Byrne

Faculty, Staff and Students Publications

Background: The modified Blalock-Taussig-Thomas shunt is the gold standard palliation for securing pulmonary blood flow in infants with ductal-dependent pulmonary blood flow. Recently, the ductus arteriosus stent (DAS) has become a viable alternative.

Methods and results: This was a retrospective multicenter study of neonates ≤30 days undergoing DAS or Blalock-Taussig-Thomas shunt placement between January 1, 2017 and December 31, 2020 at hospitals reporting to the Pediatric Health Information Systems database. We performed generalized linear mixed-effects modeling to evaluate trends in intervention and intercenter variation, propensity score adjustment and inverse probability weighting with linear mixed-effects modeling to analyze length of stay …

County-Level Cardiologist Density And Mortality In The United States, Abdul Mannan Khan Minhas, Purvi Parwani, Marat Fudim, Salim S Virani, Sadiya S Khan, Michael W Cullen, Arunima Misra, Christie Ballantyne, Vijay Nambi, Dmitry Abramov

Faculty, Staff and Students Publications

No abstract provided.

Acss2 Gene Variants Determine Kidney Disease Risk By Controlling De Novo Lipogenesis In Kidney Tubules, Dhanunjay Mukhi, Lingzhi Li, Hongbo Liu, Tomohito Doke, Lakshmi P Kolligundla, Eunji Ha, Konstantin Kloetzer, Amin Abedini, Sarmistha Mukherjee, Junnan Wu, Poonam Dhillon, Hailong Hu, Dongyin Guan, Katsuhiko Funai, Kahealani Uehara, Paul M Titchenell, Joseph A Baur, Kathryn E Wellen, Katalin Susztak

Faculty, Staff and Students Publications

Worldwide, over 800 million people are affected by kidney disease, yet its pathogenesis remains elusive, hindering the development of novel therapeutics. In this study, we used kidney-specific expression of quantitative traits and single-nucleus open chromatin analysis to show that genetic variants linked to kidney dysfunction on chromosome 20 target the acyl-CoA synthetase short-chain family 2 (ACSS2). By generating ACSS2-KO mice, we demonstrated their protection from kidney fibrosis in multiple disease models. Our analysis of primary tubular cells revealed that ACSS2 regulated de novo lipogenesis (DNL), causing NADPH depletion and increasing ROS levels, ultimately leading to NLRP3-dependent pyroptosis. Additionally, we discovered …

Exploring The Uncommon: A Case Report On Localized Peritonitis Caused By Ingested Toothpick, Narmeen Asif, Salva Shariq, Abdul Rehman Alvi

Department of Surgery Docs

Introduction: Bowel perforation is a serious emergency. Occasionally, sharp objects like toothpicks can get stuck in narrow parts of the small intestine, potentially resulting in impaction, obstruction, or perforation.
Presentation of case: A 20-year-old male arrived at our hospital's emergency department with sudden, severe abdominal pain persisting for 24 h. On examination, his abdomen showed tenderness, and bowel sounds were reduced. Contrast-enhanced computed tomography (CECT) indicated possible small intestine inflammation due to a foreign object and a diagnostic laparoscopy revealed a hyperemic terminal ileum.
Discussion: This case involves ileal perforation from an unnoticed toothpick ingestion. Detecting foreign object perforations is …

Chromosome 10q2432 Variants Associate With Brain Arterial Diameters In Diverse Populations: A Genome-Wide Association Study, Minghua Liu, Farid Khasiyev, Sanjeev Sariya, Antonio Spagnolo-Allende, Danurys L Sanchez, Howard Andrews, Qiong Yang, Alexa Beiser, Ye Qiao, Emy A Thomas, Jose Rafael Romero, Tatjana Rundek, Adam M Brickman, Jennifer J Manly, Mitchell Sv Elkind, Sudha Seshadri, Christopher Chen, Saima Hilal, Bruce A Wasserman, Giuseppe Tosto, Myriam Fornage, Jose Gutierrez

Faculty, Staff and Student Publications

Background: Brain arterial diameters (BADs) are novel imaging biomarkers of cerebrovascular disease, cognitive decline, and dementia. Traditional vascular risk factors have been associated with BADs, but whether there may be genetic determinants of BADs is unknown.

Methods and results: The authors studied 4150 participants from 6 geographically diverse population-based cohorts (40% European, 14% African, 22% Hispanic, 24% Asian ancestries). Brain arterial diameters for 13 segments were measured and averaged to obtain a global measure of BADs as well as the posterior and anterior circulations. A genome-wide association study revealed 14 variants at one locus associated with global BAD at genome-wide …

Feasibility Of Electronic Medication Monitoring Among Adolescents And Emerging Adults With Sickle Cell Disease, Aimee Hildenbrand, Katherine Kidwell, Meghan Mcgrady, Constance Mara, Charles Quinn, Lori Crosby

Department of Pediatrics Faculty Papers

Purpose: To examine the feasibility of using MEMS® bottles to assess adherence among adolescents and emerging adults with sickle cell disease.

Patients and Methods: Eighteen non-Hispanic Black participants with HbSS (M = 17.8 years; 61% male) were given a MEMS® bottle to store hydroxyurea (n = 14) or deferasirox (n = 4).

Results: One hundred percent initiated MEMS® use and 61% sustained use through the 18-week study; at follow-up, only 11% returned their bottle on time. Barriers to MEMS® use included medication changes and transition to adult care; facilitators included tip sheets and reminders.

Conclusion: While MEMS® is acceptable to …