Medical Specialties Commons^™

Cholesterol Crystal Embolization Induced Kidney Disease, Shohan Pervaze, Shreya Mohandas, Pushkas Gopalan, Stephen A. Morse, Siddhartha Bajracharya, Landon A. Krone, Farshid Yazdi

School of Medicine Faculty Publications

Cholesterol crystal embolization (CCE) results from the release of cholesterol crystals from ruptured atherosclerotic plaques into circulation, resulting in the occlusion of small arteries and arterioles in various organs. Ischemia triggers a systemic inflammatory response resulting in vascular obstruction and organ dysfunction. Kidneys are often involved because of the proximity to the aorta and CCE in the kidneys can result in acute, sub-acute, or chronic kidney disease. There are many known risk factors for renal involvement of CCE, including iatrogenic and spontaneous causes. The pathophysiology of CCE includes complex pathways that lead to acute and chronic effects that can have …

Development And Implementation Of An Ob/L&D Sbar Framework To Enhance Communication Between Obstetric Nurses And Anesthesia Providers: A Quality Improvement Initiative, Jenna E. Bigam, Laina J. Uzarski

Doctor of Nurse Anesthesia Practice (DNAP) Manuscripts

Effective communication between obstetric (OB) nurses and anesthesia providers is critical to ensure patient safety during epidural placements in labor and delivery (L&D) settings. At a large teaching hospital, communication gaps were identified when OB nurses requested anesthesia for epidural placements without consistently providing vital patient information. The lack of structured communication can result in important details being overlooked, which may lead to delays in care and potential patient harm. To address this, the SBAR (Situation, Background, Assessment, Recommendation) communication framework was implemented to standardize and improve information exchange. This Doctorate of Nurse Anesthesia Practice (DNAP) project aimed to enhance …

The Impact Of Gender, Training Year, Medical Specialty And The Covid-19 Pandemic On Resident Wellness, Sara Beachy, Jessica Luzier, Chantel Weisenmuller, Kathleen Bors, Mary Ann Maurer, Amna Anees, Tiffany Lasky, Lisa Calderwood

Department of Family & Community Medicine Faculty Papers

INTRODUCTION: Data are limited as to which factors most strongly impact medical trainees' well-being, and few studies have assessed trainee's wellness at multiple time points during the COVID-19 pandemic. Additionally, much research has not taken an intersectional approach to understanding the ways in which different facets of a resident's identity impact their wellness. Thus, more person-centred, probability-driven statistical approaches that can produce distinct heterogenous groups of individuals are warranted to understand the way in which different identities are associated with resident wellness scores.

METHODS: A latent profile analysis was conducted using institutional data from resident surveys administered from 2019 to …

Chronic Lower Extremity Anomalies: Impact Of Diabetic Induced Foot Amputations On Human Locomotion, Anthony Arnoldo Melgar

Theses and Dissertations

This research aims to understand the physiological changes that the human body undergoes post partial foot amputation (PFA). A total of three studies were conducted to fully comprehend biomechanical changes and adjustments that occur during locomotion for affected individuals. The first study of this thesis focuses on obtaining kinematic data for both the ankle joint angle and ankle joint torque for the healthy population, as well as for the affected PFA population. Results were compared, and notable differences were present between the two. The second study of this thesis dealt with individual muscle forces. To obtain the muscle force data, …

Il-17a Immune Signature Across Stratified Stages Of Type 2 Diabetes​, Brittney C. White, Antonio Hernandes Chaves-Neto, Peter Elvin, Javier La Fontaine, Eric L. Brown, Walid Fakhouri, Craig Hanis, Claudia Biguetti

School of Podiatric Medicine - Student Research

Purpose: This study investigated whether IL-17A, a pro-inflammatory cytokine associated with Th17 cell activity, reflects distinct stages of type 2 diabetes progression.

Methods: Forty-two obese individuals (average age: 60.4 ± 10.3 years; 55% male; BMI: 31.3 ± 4.9) from Starr County, Texas, were matched for gender and BMI and stratified into five metabolic groups based on fasting blood glucose, 2-hour oral glucose tolerance test, and HbA1c levels. Groups included diabetes-free, isolated impaired glucose tolerance, combined glucose impairment, diabetes without complications, and diabetes with lower extremity complications. IL-17A protein levels were quantified from buffy coat samples using ELISA. After excluding …

Association Between Hidradenitis Suppurativa And Obstructive Sleep Apnea: A Retrospective Cohort Study Using The Trinetx Dataset, Mihir K. Patil, Thomas Z. Rohan, Goranit Sakunchotpanit, Kaushik P. Venkatesh, Sofia Milosavljevic, Vinod E. Nambudiri, Alexandra Charrow

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Work Impairment And Financial Outcomes Among Adults With Vs Without Long Covid, Michael Gottlieb, Ji Chen, Huihui Yu, Michelle Santangelo, Erica S. Spatz, Nicole L. Gentile, Rachel E. Geyer, Caitlin Malicki, Kristyn Gatling, Kelli N. O'Laughlin, Kari A. Stephens, Joann G. Elmore, Lauren E. Wisk, Michelle L'Hommedieu, Robert Rodriguez, Juan Carlos C. Montoy, Ralph C. Wang, Kristin L. Rising, Efrat Kean, Jonathan W. Dyal, Mandy J. Hill, Arjun K. Venkatesh, Robert A. Weinstein

Department of Emergency Medicine Faculty Papers

IMPORTANCE: While much of the focus on long COVID (LC; defined as developing new, persistent symptoms lasting 3 months or longer after SARS-CoV-2 infection) has been on health status and quality of life, the impact on individual work productivity and financial distress are less well established.

OBJECTIVES: To assess differences in work and financial outcomes among individuals with current, resolved, and no LC up to 3 years after initial infection.

DESIGN, SETTING, AND PARTICIPANTS: This prospective, multisite, longitudinal cohort study enrolled adult participants (age ≥18 years) with at least 1 reported SARS-CoV-2 infection from December 7, 2020, to August 29, …

Serum Syndecan-1 Is Associated With Kidney And Cardiovascular Outcomes In Idiopathic Nephrotic Syndrome., Colin Bauer, Arshia Anand, Christine Sethna, Jonathan Troost, Tarak Srivastava, Imtiazul Islam, Audrey Fetsko, Julie A. Dougherty, William E. Smoyer, Richard J. Johnson, Gabriel Cara-Fuentes

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Idiopathic nephrotic syndrome (INS) is associated with important kidney and cardiovascular morbidities. We tested the hypothesis that serum syndecan-1, a marker of endothelial glycocalyx injury, can help identify patients at risk for unfavorable kidney and cardiovascular outcomes.

METHODS: We included 348 children and adults with INS (n = 35 unbiopsied, n = 141 minimal change disease [MCD] and n = 172 focal segmental glomerulosclerosis [FSGS]) from the Nephrotic Syndrome Study Network (NEPTUNE) cohort and 34 healthy participants (n = 22 adults, n = 12 children). We measured baseline serum syndecan-1 levels using an enzyme-linked immunosorbent assay and …

Multicenter Span Trial Of Fasudil In Ischemic Stroke, Takahiko Imai, Andreia Lopes De Morais, Xuyan Jin, Tao Qin, Jessica Lamb, Karisma A Nagarkatti, Mu-Hsun Chen, Ligia S B Boisserand, Rakesh B Patel, Mariia Kumskova, Anjali Chauhan, Krishnan M Dhandapani, Mohammad B Khan, Pradip K Kamat, Yanrong Shi, Suyi Cao, Basavaraju G Sanganahalli, Joseph B Mandeville, Patrick D Lyden, David C Hess, Enrique C Leira, Anil K Chauhan, Jaroslaw Aronowski, Louise D Mccullough, Raymond C Koehler, Lauren H Sansing, Márcio A Diniz, Cenk Ayata

Children’s Nutrition Research Center Staff Publications

Background: The SPAN (Stroke Preclinical Assessment Network) is a confirmatory multicenter trial network to test cerebroprotective interventions in experimental acute stroke. In a first-of-its-kind trial, SPAN tested 6 interventions in a rodent model of transient focal ischemic stroke. Here, we report the efficacy of fasudil, an isoform-nonselective rho-associated kinase inhibitor, on primary and secondary outcomes in the SPAN trial.

Methods: Fasudil was administered at 10 mg/kg intraperitoneally every 12 hours for 6 doses starting 5 minutes before reperfusion in a 60-minute endovascular filament middle cerebral artery occlusion model. The active treatment arm (n=345) was compared with the pooled intraperitoneal and …

Family-Level Factors That Influence Physical Activity Among Hispanic Adolescents At Risk For Type 2 Diabetes, Sandra Mihail, Ayleen A Hernandez, Erica G Soltero

Children’s Nutrition Research Center Staff Publications

Objective: Family-based health promotion and disease prevention strategies are recommended as best practice; however, there is limited knowledge regarding the family-level factors that influence modifiable behavior risk factors like physical activity (PA) among Latinx adolescents. This study addressed this knowledge gap by using qualitative methods to identify perceptions of family-level factors that influence PA among Hispanic youth.

Methods: We conducted semistructured, open-ended interviews with 20 Latinx adolescents (14-16 years) with obesity (body mass index ≥95th percentile) to identify their perceptions of how family influences PA. Content analysis was used to identify emergent themes, which were then compared across demographic factors, …

Cbl Regulation Of C-Met Signaling In Corneal Epithelial Cells., Kate Elise Tarvestad Laise

Electronic Theses and Dissertations

The cornea is the most anterior portion of the eye and permits light passage through to retina, allowing formation of a clear image as long as it remains healthy. If the cornea sustains damage, it creates and entrance for foreign body invasion, infection, and ultimately blindness in the immunocompromised eye. Healing the corneal tissue is critical for vision restoration and pain alleviation, as it is the most densely innervated tissue in the body. Growth factors and their cognate receptors are currently under investigation as tools to restore proper corneal physiology. We hypothesize that manipulating the hepatocyte growth factor (HGF) /c-Met …

Summit Max: A Randomized Trial Of The Super Large Bore Hipoint Reperfusion System Versus Vecta System For Aspiration Thrombectomy., Thanh N Nguyen, Guilherme Dabus, Ben Mcguinness, James Caldwell, Ryan Priest, Ansaar T Rai, Osama O Zaidat, Bradley A Gross, Ricardo Hanel, Shane Lee, Shazam Hussain, Hamza Shaikh, Mohamad Abdalkader, Ronald Budzik, Craig Kilburg, Keith Woodward, Marco Colasurdo, Jesse Liu, Albert J Yoo, Priyank Khandelwal, Sohyun Boo, Phong Vu, Eugene Lin, Mohammad Almajali, Jasmeet Singh, Alhamza Al-Bayati, Michael J Lang, Michael Abraham, Ameer E Hassan, Peter Pema, Coleman Martin, Ramesh Grandhi, Daniel A Tonetti, Harry R Hixson, Amin Aghaebrahim, Eric Sauvageau, Santiago Ortega-Gutierrez, Dileep R Yavagal, Esteban Cheng-Ching, Jane Khalife, Italo Linfante, Volodymyr Vulkanov, Jazba Soomro, Johanna T Fifi, Lucien Maidan, Alexander Copelan, Clemens M Schirmer, Mark Bain, Gabor Toth, Mahesh Jayaraman, Roberta Novakovic-White, Sudhakar Satti, Nicolas Villelli, Pascal Jabbour, Matthew Page, Davina J Mcallister, Robert Araujo Contreras, Edgar A Samaniego, David S Liebeskind, Steven W Hetts, Raul G Nogueira, Joey English, Ajit S Puri

Neuroscience Articles

BACKGROUND: Rapid and complete recanalization is a primary goal in the endovascular treatment of large vessel occlusion stroke. The effectiveness and safety of super large bore aspiration catheters (0.088″ inner diameter) for the treatment of large vessel occlusion stroke have not been demonstrated in a randomized trial.

METHODS: SUMMIT MAX (A Prospective, Randomized, Controlled, Interventional Clinical Trial to Evaluate the Safety and Effectiveness of the Route 92 Medical MonoPoint Reperfusion System for Aspiration Embolectomy in Acute Ischemic Stroke Patients) was a prospective, randomized, controlled, open-label clinical trial of patients with internal carotid artery and middle cerebral artery M1 occlusions, comparing …

Microbial Metabolite Regulation Of Microglial Ahr Signaling In Alzheimer’S Disease, Ghalya E. Alrousan

Dissertations and Theses (Open Access)

Introduction: Alzheimer’s disease (AD) is a progressive neurodegenerative disorder characterized by amyloid-β plaque accumulation, neuroinflammation, and cognitive decline. Recent evidence suggests that systemic factors, particularly the gut microbiota and its metabolites, play a significant role in shaping brain immune responses, including microglial activation. However, the mechanisms linking gut dysbiosis to microglial dysfunction in AD are poorly understood. The aryl hydrocarbon receptor (AHR), a ligand-activated transcription factor responsive to tryptophan metabolites, has recently gained attention as a key regulator of neuroinflammation and microglial function. I hypothesize that the loss of beneficial microbial AHR ligands, specifically indole derivatives, during aging and AD …

Identifying Critical Evidence Gaps In Wound Closure And Incision Management After Total Hip Arthroplasty: Delphi Panel Insights, Margaret Ainslie-Garcia, Lucas Anderson, Benjamin Bloch, Tim N Board, Antonia Chen, Samantha Craigie, Walter Danker, Najmuddin Gunja, James Harty, Victor Hernandez, Kate Lebedeva, Mitchell Ng, Daniel Hameed, Michael Mont, Ryan Nunley, Javad Parvizi, Sean Sequeira, Carsten Perka, Nicolas Piuzzi, Ola Rolfson, Joshua Rychlik, Emilio Romanini, Pablo Sanz-Ruiz, Rafael Sierra, Linda Suleiman, Eleftherios Tsiridis, Pascal-André Vendittoli, Helge Wangen, Luigi Zagra

Department of Orthopaedic Surgery Faculty Papers

BACKGROUND: In total hip arthroplasty (THA), proper management of surgical incisions is essential for optimal wound healing and patient outcomes. Despite advances in surgical techniques, significant challenges remain in preventing complications and infections. This study aimed to identify evidence gaps in THA wound care, including presurgical preparation, intraoperative practices, and postsurgical complications.

METHODS: Using a modified Delphi method, 20 expert orthopedic surgeons from Europe and North America participated in a 3-phase consensus process from April 1 to September 30, 2023. This included a preliminary questionnaire, a remote conference, and a final online survey. The panel reviewed literature and achieved agreement …

Emotional Safety In Pediatrics: The Impact Of Child Life Services On Healthcare Professionals’ Perceptions Of Their Own, Patients’, And Families’ Outpatient Experiences, Jenni Davis

All Dissertations

Medical visits, regardless of setting, are stressful for children and their families. Care that focuses on the emotional safety of children and families can help reduce this stress. However, not all staff feel prepared to provide emotionally safe care. Child life specialists (CLSs) are specifically trained to support emotional needs during healthcare encounters. Their presence may help staff stress as well, not just stress for children and families.

This study used three surveys to understand stress among healthcare staff working in pediatric outpatient clinics and surgery settings, and how support from a CLS affects staff, children, and families. All staff …

In A Safe-Space Of Her Own: Alice's Journey Through A Traumatized Wonderland To Find Attunement And Recovery, Cheston A. Axton

Electronic Theses and Dissertations

Throughout Alice’s Adventures in Wonderland/Through the Looking-Glass’s 160-year existence, Lewis Carroll’s seven-year-old protagonist has experienced many changes and alterations. With an ever-growing pop culture interest, Alice’s original narrative has undergone numerous adaptations, with each new variation diving deeper into the impact of trauma on Wonderland.

This thesis continues this existing discourse by examining Wonderland’s capacity to facilitate recovery in the aftermath of severe trauma. Through this research, the traumatic experiences of Alice, from Christina Henry’s The Chronicles of Alice: Alice and American McGee’s Alice: Madness Returns, are examined concerning their effect(s) on her construction of Wonderland, as …

Outcomes And Microbiological Patterns Of Bacteremia In Chemotherapy-Related Febrile Neutropenia At A Tertiary Facility In Kenya, Abhijit Ghose, Jasmit Shah, Anne Mwirigi, Charles Makasa, Felix Riunga

Internal Medicine, East Africa

Introduction: Febrile neutropenia (FN) is a major cause of mortality and morbidity in patients with malignancy post-chmotherapy. Current guidelines for managing FN recommend starting empiric antibiotic therapy (EAT) promptly. The choice of antibiotic is based on the patient’s condition, local data on common microorganisms isolated, and their resistance patterns. Of note, there is a growing trend of isolating multi-drug–resistant gram-negative bacteria in these patients. In sub-Saharan Africa, there are insufficient data on the mortality rates of FN. There is also a lack of local epidemiologic data on the frequently isolated microorganisms and their antibiotic resistance patterns. This makes it challenging …

Genome-Wide Approaches To Bacterial Strain Typing: A History And Review Of Recent Methodological Advances, William C Shropshire, Blake M Hanson, Samuel A Shelburne

Faculty, Staff and Student Publications

Purpose of review: Whole genome sequencing (WGS) has transformed bacterial strain typing, an essential tool for outbreak detection, antimicrobial resistance surveillance, and tracking clonal emergence across clinical, research, and public health settings. Herein, we will review recent advances in WGS-based bacterial strain typing methods for purposes of comparison and classification with a focus on improvements in variant identification, strain classification, and transmission assessment.

Recent findings: Advances in sequencing technologies as well as variant calling methodologies and parameter optimization have enhanced the precision and accuracy of single nucleotide variant identification. Hierarchical clustering of gene-by-gene strain typing, combined with novel data management …

The Associations Of Childhood Adversities And Mental Disorders With Suicidal Thoughts And Behaviors - Results From The World Mental Health International College Student Initiative, Philippe Mortier, Xue Yang, Yasmin Altwaijri, Jacob Holdcraft, Nancy Sampson, Yesica Albor, Ahmad Alhadi, Jordi Alonso, Nouf Al-Saud, Lukoye Atwoli

Internal Medicine, East Africa

Objective: To investigate the associations of demographic variables, childhood adversities (CAs), and mental disorders (MDx) with onset, transition, and persistence of suicidal thoughts and behaviors (STB) among first-year university students.

Method: Poisson regression models within a discrete-time survival framework were constructed using web-based self-report survey data from 72,288 incoming university students across 18 countries (response rate=20.9%; median age=19 years, 57.9% female, 1.4% transgender, 21.0% non-heterosexual). These models examined the associations of four demographic variables, five CAs, and eight MDx with STB outcomes.

Results: Lifetime prevalence of suicidal ideation, plans, and attempts was 47.0%, 26.0%, and 9.6%, respectively; 12-month estimates were …

Radiation Induced Vaporization Of Exoskeletal Droplets As Potential X-Ray Acoustic Contrast Agents, Mohamed E. Eldib, William N. Frantz, Mark A. Borden, Ryan Lanning, Moyed Miften, David H. Thomas

Department of Radiation Oncology Faculty Papers

BACKGROUND: In vivo dosimetry is a crucial component of ensuring accurate and safe radiation therapy (RT) delivery, but many existing techniques face challenges such as low signal-to-noise ratio (SNR), which can limit their clinical applicability.

PURPOSE: In this study, we investigate a novel contrast agent sensitive to megavoltage (MV) radiation in vitro, ultimately aiming for in vivo dosimetry.

METHODS: Vaporizable exoskeletal droplets were engineered to phase-change into ultrasound-responsive microbubbles upon exposure to MV photon radiation. These droplets comprised a hydrocarbon (HC) exoskeleton doped with gold nanoparticles (GNPs) surrounding a liquid fluorocarbon (FC) core. Radiation absorbed by the GNPs induced localized …

American College Of Rheumatology Guidance Statements For Addressing Mental Health Concerns In Youth With Pediatric Rheumatologic Diseases., Natoshia R. Cunningham, Ashley N. Danguecan, Samantha L. Ely, Yaa Amponsah, Alaina Davis, Suzanne Edison, Julia G. Harris, Jordan T. Jones, Alana Goldstein-Leever, Alison Manning, Anne Mchugh, Crystal Mui, Ekemini Ogbu, Nikki Reitz, Martha Rodriguez, Natalie Rosenwasser, Alyse Tankanow, Erin Treemarcki, Katherine Winner, Tamar B. Rubinstein, Andrea M. Knight, Carra Mental Health Workgroup

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Pediatric rheumatologic diseases (PRDs) are characterized by high rates of anxiety and depression known to impact health-related outcomes. We present guidance statements to assess and manage mental health concerns for youth with PRDs in pediatric rheumatology practice.

METHODS: Development of the guidance statements was initiated in 2019 and concluded in November 2023. It included (1) the formation of a task force (including pediatric rheumatologists, pediatric behavioral health providers, patients, and parents) led by two licensed pediatric psychologists and two board-certified pediatric rheumatologists, (2) iterative drafting of statements and rating of evidence based on the Oxford Centre for Evidence-Based Medicine …

Indoor Air Quality Conditions And Respiratory Virus Detections In Elementary Schools—Kansas City, Missouri, February–March 2023, Olivia M. Almendares, Jasmine D. Ruffin, Luke Gard, Rangaraj Selvarangan, Anjana Sasidharan, Dithi Banerjee, Nibha Sagar, Amanda Hayes, Sydnie Petty, Brian R. Lee, Chris T. Young, Janelle Potter, Shannon Tilsworth, Jennifer Goldman, Jennifer E. Schuster, Hannah L. Kirking

Manuscripts, Articles, Book Chapters and Other Papers

Background/Objectives: Respiratory viruses circulate year-round and can spread indoors via inhalation of airborne particles. Effective ventilation and filtration may reduce transmission, particularly in school settings where children and staff spend significant time. This study examines the impact of indoor air quality (IAQ) and ventilation in schools on respiratory virus detection.

Methods: During February 27 to March 30, 2023, we assessed the relationship between IAQ and respiratory viruses in two Kansas City, Missouri, elementary schools by collecting bioaerosol samples, student and staff nasal swabs, and monitoring IAQ across 10 rooms (six classrooms, two common spaces, and two nurses’ offices). We calculated …

Antithrombotic Strategies And Outcomes In Neonates And Infants With Cardiac Shunts: A Systematic Review And Meta-Analysis., Amy L. Kiskaddon, Neil A. Goldenberg, Marisol Betensky, Joshua W. Branstetter, Dina Ashour, Pamela Williams, Arabela C. Stock, Michael Silvey, Therese M. Giglia, Nhue L. Do, Cardiac Disease Thrombosis And Hemostasis Working Party Of The Isth Ssc Subcommittee On Pediatric And Neonatal Thrombosis And Hemostasis

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Cardiac shunt thrombosis in neonates and infants remains a concern for shunt failure and mortality. The optimal strategy for thromboprophylaxis remains unknown.

OBJECTIVES: This systematic review aims to characterize antithrombotic strategies and outcomes in neonates and infants with a cardiac shunt.

METHODS: MEDLINE, Embase, and Cochrane CENTRAL were searched from inception through July 2024 for studies reporting shunt thrombosis prevalence among infants who received a cardiac shunt. We estimated the pooled prevalence of shunt thrombosis using random-effects meta-analysis. In the subgroup analysis, we evaluated the effects of shunt type and antithrombotic strategies on shunt thrombosis prevalence.

RESULTS: A total …

Differing Impacts Of Cardiac Implantable Electronic Device Leads On Tricuspid Regurgitation, Sophie A. Leon, Melissa Austin, Nayeem Nasher, Daler Rahimov, Faizaan Siddique, Chitra Parikh, Danial Ahmad, Vakhtang Tchantchaleishvili, Behzad B. Pavri

Division of Cardiology Faculty Papers

BACKGROUND: Placement of cardiac implantable electronic devices (CIED) with leads that traverse the tricuspid valve is thought to contribute to tricuspid regurgitation (TR). However, there are relatively limited data comparing the impact of different CIED lead types on the incidence and progression of TR. This study sought to quantify the change in TR severity following implantation of CIEDs with different lead types.

METHODS: Patient data were collected on individuals with implantable cardioverter defibrillators (ICD), right ventricular-paced pacemakers (RV-PM), and His bundle-paced pacemakers (His-PM) placed by a single provider at a single institution between 2016 and 2019. Patients with extravascular CIED …

Mitochondrial Ribosomal Protein L3 (Mrpl3): An Early Diagnostic Biomarker And Potential Molecular Target In Pancreatic Cancer, Mudassier Ahmad, Sahir Sultan Alvi, Anupam Dhasmana, Jasmine Benavidez, Murali Yallapu, Dae Joon Kim, Subhash Chauhan, Bilal Hafeez

School of Medicine Publications

Pancreatic cancer (PanCa) is projected to become the second major cause of cancer-related mortality by 2030. The current diagnostic and treatment strategies offer only marginal benefits in overall survival. This highlights the need to discover new biomarkers and targets for the treatment of PanCa. Dysregulated mitochondrial ribosome biogenesis occurs in PanCa and can be utilized as a potential biomarker and molecular target for its management. In this study, we established MRPL3 (Mitochondrial Ribosomal Protein L3) as a potential biomarker and its role in expression of ETC (Electron Transport Chain) components. We employed an integrated approach combining the in silico and …

Bridging Psychiatry And Rare Genetic Diseases: A Scoping Review Of Therapeutic Strategies And Diagnostic Delay Paired With Healthcare Economic Burden Analysis, Sheldon R Garrison, Isaac J Siegel, Christopher R Takala, Sarah L Vaithilingam, Gene W Yang, Anthony W Zoghbi, Madeline M Hartig, Sreya Vadapalli, Margaret E Anderson

Duncan NRI Faculty and Staff Publications

Rare genetic diseases (RDs) with primary neuropsychiatric symptoms pose unique challenges for diagnosis and management. While the majority of these RDs have neuropsychiatric symptoms that are secondary to the RD, a subset presents with primary neuropsychiatric symptoms directly linked to their underlying pathophysiology. This subset has significant unmet medical need with delayed diagnoses leading to prolonged delays in treatment optimization and the trialing of medications that fail to target the underlying pathophysiology. This comprehensive review identifies 108 RDs with central neuropsychiatric symptoms that have a 7.7-year average diagnostic delay. Optimal management strategies for these RDs typically includes non-psychotropic medications, dietary …

Rapid Dissection And Dissociation Of The Mouse Olfactory Epithelium For Single-Nucleus Suspensions, Benjamin D W Belfort, Anthony M Insalaco, Claude C Chew, Johnathan D Jia, Julia Younis, Benjamin R Arenkiel

Duncan NRI Faculty and Staff Publications

The murine olfactory epithelium is the initial entry point of the olfactory system, housing various cell types that include olfactory sensory neurons, their regenerating progenitors, and support cells. Olfactory sensory neurons transduce chemical odorants into neural signals, yet the mechanisms underlying how these cells develop and turnover, create synapses with the olfactory bulb, and regulate their odorant receptors remain areas of intense study. Located on the dorsal aspect of the nasal cavity, the olfactory epithelium adheres to intricate bony structures known as turbinates. This anatomy poses unique challenges for its extraction and dissociation, especially in the context of preparing viable …

De Novo And Inherited Variants In Ddx39b Cause A Novel Neurodevelopmental Syndrome, Kevin T A Booth, Sharayu V Jangam, Martin M C Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano, Yao Ruan, Jeffrey Wan-Hei Hui, Kerry White, Celanie K Christensen, Ty Lynnes, Shinya Yamamoto, Oguz Kanca, Mandy H Y Tsang, Sally A Lynch, Sureni V Mullegama, Julia Baptista, Daniela Iancu, Shelagh K Joss, Sandra Y Y Wong, Christopher C Y Mak, Anna K Y Kwong, Hugo J Bellen, Erin Conboy, Remo Sanges, Anskar Yu-Hung Leung, Michael F Wangler, Brian H Y Chung, Francesco Vetrini

Duncan NRI Faculty and Staff Publications

DDX39B is a conserved member of the DEAD-box family of ATP-dependent RNA helicases, critical in mRNA metabolism across eukaryotes. DDX39B is also a core component of the TRanscription-EXport (TREX) super protein complex, and recent studies have highlighted the important role of its subunits in neurodevelopmental disorders. Here, we describe six individuals from five families, four harbouring de novo missense variants in DDX39B and one with an inherited splicing variant, presenting with variable developmental delay, congenital hypotonia, epilepsy, short stature, skeletal abnormalities, dysmorphic features and microcephaly in three patients.

3D molecular modelling predicts these variants would alter protein structure. In vitro …

Rates Of Appropriate Initiation Of Low Dose Aspirin Prophylaxis As Indicated By The Gestosis Score In Early Pregnancy: A Cross-Sectional Study, Mundlapati Usha, Nathasha Hk, Akkamma A. Satyaraddi, Geetanjali M. Katageri

Digital Journal of Clinical Medicine

Introduction: Pre-clampsia is a multisystem disorder in pregnancy. Initiating Low Dose Aspirin (LDA) in early pregnancy is recommended to prevent development of pre-eclampsia in high-risk women. Gestosis score is a simple screening tool for predicting women at risk for developing pre-eclampsia. It can be done by any health care provider even in the periphery. This study highlights the degree of awareness amongst obstetric healthcare providers in prediction and prevention of pre-eclampsia and the rates of appropriate initiation of Aspirin.

Methodology: 134 pregnant women were included in the study. The parameters for calculating the GESTOSIS score were retrieved from …

Folliculin Depletion Results In Liver Cell Damage And Cholangiocarcinoma Through Mit/Tfe Activation, Bruno Maria Custode, Francesco Annunziata, Felipe Dos Santos Matos, Valentina Schiano, Veronica Maffia, Milena Lillo, Rita Colonna, Rossella De Cegli, Andrea Ballabio, Nunzia Pastore

Duncan NRI Faculty and Staff Publications

Mutations in the tumor suppressor gene Folliculin (FLCN) are responsible for Birt-Hogg-Dube’ (BHD) syndrome, a rare inherited condition that predisposes affected individuals to skin tumors, pulmonary cysts, and kidney tumors. FLCN regulates key cellular pathways, including TFEB, TFE3, and mTORC1, which are critical for maintaining cell homeostasis. Loss of FLCN leads to both hyperactivation of mTORC1 and constitutive activation of TFEB and TFE3, contributing to tumorigenesis. While previous studies showed that Flcn liver-specific conditional knockout (FlcnLiKO) mice are protected from developing liver fibrosis and damage upon high-fat diet exposure, the potential role of FLCN loss in liver carcinogenesis …