Open Access. Powered by Scholars. Published by Universities.®

Diseases Commons

Open Access. Powered by Scholars. Published by Universities.®

Discipline
Institution
Keyword
Publication Year
Publication
Publication Type
File Type

Articles 1831 - 1860 of 21484

Full-Text Articles in Diseases

How Do Montessori-Based Activities Affect Behaviors For Older People With Dementia: A Literature Review, Isabel Quigley Jun 2025

How Do Montessori-Based Activities Affect Behaviors For Older People With Dementia: A Literature Review, Isabel Quigley

University Honors Theses

Objectives: This literature review is meant to analyze the development on the research on Montessori-based activities for adults with dementia.

Introduction: Baby Boomers are the largest generation to enter senior age (65+) in history due to the advancement in medicine to increase life expectancy. Dementia is a neurocognitive disease that affects parts of the brain related to memory and signs typically surface around 65 years old. Dementia is not considered healthy aging. Montessori-based activities have been recently developed as an intervention to encourage a feeling of accomplishment and success for adults with dementia.

Methods: Two electronic databases …


Integrating Explainable Machine Learning And Transcriptomics Data Reveals Cell-Type Specific Immune Signatures Underlying Macular Degeneration, Khang Ma, Hosei Nakajima, Nipa Basak, Arko Barman, Rinki Ratnapriya Jun 2025

Integrating Explainable Machine Learning And Transcriptomics Data Reveals Cell-Type Specific Immune Signatures Underlying Macular Degeneration, Khang Ma, Hosei Nakajima, Nipa Basak, Arko Barman, Rinki Ratnapriya

Faculty, Staff and Students Publications

Genome-wide association studies (GWAS) have established key role of immune dysfunction in Age-related Macular Degeneration (AMD), though the precise role of immune cells remains unclear. Here, we develop an explainable machine-learning pipeline (ML) using transcriptome data of 453 donor retinas, identifying 81 genes distinguishing AMD from controls (AUC-ROC of 0.80, CI 0.70–0.92). Most of these genes were enriched in their expression within retinal glial cells, particularly microglia and astrocytes. Their role in AMD was further strengthened by cellular deconvolution, which identified distinct differences in microglia and astrocytes between normal and AMD. We corroborated these findings using independent single-cell data, where …


Early Diagnosis And Detection Of Skin Cancer Using Deep Neural Network Models And Feature Extraction From Pre-Trained Cnns, Sahil Khanna Jun 2025

Early Diagnosis And Detection Of Skin Cancer Using Deep Neural Network Models And Feature Extraction From Pre-Trained Cnns, Sahil Khanna

Harrisburg University Dissertations and Theses

Skin cancer is one of the most common and lethal cancer types. While accurate diagnosis at an early stage is essential for skin cancer treatment it remains difficult to achieve in many regions due to lack of sufficient dermatologists and proper diagnostic equipment. Prior studies show Convolutional Neural Network (CNN) models excel at skin lesion classification and consistently achieve better results than standard diagnostic practices. However, the focus of many studies remains confined to image-based learning while neglecting useful patient metadata that could improve prediction accuracy. This research project created a specialized CNN model to classify skin lesions and evaluated …


Attitudes Toward Pig Islet Xenotransplantation For Type 1 Diabetes: A Scoping Review, Daniel J Hurst, Daniel Rodger, Luz A Padilla, Fernando Ovalle Jun 2025

Attitudes Toward Pig Islet Xenotransplantation For Type 1 Diabetes: A Scoping Review, Daniel J Hurst, Daniel Rodger, Luz A Padilla, Fernando Ovalle

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Over 8 million people globally have type 1 diabetes. Islet allotransplantation offers an alternative to insulin therapy but is constrained by donor availability. Genetically modified pig islet transplantation presents a potential solution, yet understanding stakeholder attitudes is crucial before clinical adoption.

METHODS: This scoping review followed Joanna Briggs Institute methodology and PRISMA guidelines. CINAHL, EMBASE, PubMed, PsychINFO, and SCOPUS were searched for studies examining attitudes toward pig islet xenotransplantation among patients, healthcare workers, and other stakeholders.

RESULTS: From 199 sources, 16 met eligibility criteria, spanning ten countries from 2003 to 2023. The 23,780 participants included 1,535 (6.5%) patients/family members, …


Plug And Coil Procedure For Management Of Large Postinfarct Ventricular Septal Defect, Hussam Al Hennawi, Sergio Flores, Michael Little, Lacy Harville, Ahmad Almomani, Muhammad Hammadah Jun 2025

Plug And Coil Procedure For Management Of Large Postinfarct Ventricular Septal Defect, Hussam Al Hennawi, Sergio Flores, Michael Little, Lacy Harville, Ahmad Almomani, Muhammad Hammadah

Abington Jefferson Health Papers

Acute surgical mortality for postinfarction ventricular septal rupture remains alarmingly high at approximately 50%. In comparison, medical mortality is nearly 100% and likely exceeds historical levels because of the declining frequency of these acute surgeries, with many surgeons now performing fewer than 1 or 2 annually. Percutaneous device closure has become a feasible option for managing postinfarction ventricular septal defects in carefully selected patients. However, this technique may be associated with challenges such as significant residual shunting, delayed endothelialization, hemolysis, and extended hospital stays. Here, we present a novel approach using coil packing to enhance closure and reduce shunting.


The Incidence Of Peripartum Invasive Group A Streptococcal Infections And Association With Illicit Drug Use, Elizabeth Wagman, Elizabeth Wagman, Rupsa Boelig, Sarah Boudova Jun 2025

The Incidence Of Peripartum Invasive Group A Streptococcal Infections And Association With Illicit Drug Use, Elizabeth Wagman, Elizabeth Wagman, Rupsa Boelig, Sarah Boudova

Department of Obstetrics and Gynecology Faculty Papers

No abstract provided.


Source-Specific Nitrate And Nitrite Intake And Association With Colorectal Cancer In The Danish Diet, Cancer And Health Cohort, Dorit W. Erichsen, Nicola P. Bondonno, Pratik Pokharel, Susanne Rosthoj, Catherine P. Bondonno, Liezhou Zhong, Jorg Schullehner, Torben Sigsgaard, Peter Fjeldstad Hendriksen, Frederik Dalgaard, Ole Raaschou-Nielsen, Jonathan M. Hodgson, Christina C. Dahm, Anja Olsen, Anne Tjonneland, Cecilie Kyro Jun 2025

Source-Specific Nitrate And Nitrite Intake And Association With Colorectal Cancer In The Danish Diet, Cancer And Health Cohort, Dorit W. Erichsen, Nicola P. Bondonno, Pratik Pokharel, Susanne Rosthoj, Catherine P. Bondonno, Liezhou Zhong, Jorg Schullehner, Torben Sigsgaard, Peter Fjeldstad Hendriksen, Frederik Dalgaard, Ole Raaschou-Nielsen, Jonathan M. Hodgson, Christina C. Dahm, Anja Olsen, Anne Tjonneland, Cecilie Kyro

Research outputs 2022 to 2026

Introduction: Nitrate and nitrite, present in food and drinking water, may contribute to colorectal cancer (CRC) through the formation of carcinogenic N-nitroso compounds (NOCs). This study examined source-specific associations with CRC and subtypes, considering potential dietary and lifestyle factors that influence NOC formation. Methods: In the Danish Diet, Cancer, and Health Cohort (N=54,610), nitrate/nitrite intake was estimated from comprehensive databases and national monitoring data. Over 27 years, 2245 CRC cases (1508 colon and 737 rectal) were identified via the Danish Cancer Registry. Cox proportional hazards models adjusted for sociodemographic, diet, and lifestyle factors were used to examine associations, with stratified …


Targeting Detoxifying Enzymes In The Lymphatic Filariasis Vector: An In Silico Study On Curcumin, Camphor, And Menthol, Rizal Subahar, Rawina Winita, Surya Dwira, Gulshan Fahmi El Bayani Jun 2025

Targeting Detoxifying Enzymes In The Lymphatic Filariasis Vector: An In Silico Study On Curcumin, Camphor, And Menthol, Rizal Subahar, Rawina Winita, Surya Dwira, Gulshan Fahmi El Bayani

Indonesian Journal of Medical Chemistry and Bioinformatics

Vector control remains a critical component in the prevention of lymphatic filariasis, a disease transmitted by insect vectors. Natural compounds such as curcumin, camphor, and menthol are being explored for their bio-insecticidal properties due to their potential to inhibit key detoxification and neurological enzymes in insects, including acetylcholinesterase (AChE), glutathione S-transferase (GST), and cytochrome P450 oxidases (CYP450). A molecular docking study using SwissDock was conducted to evaluate the interaction of curcumin, camphor, and menthol with AChE, GST, and CYP450 enzymes. Binding affinity (ΔG), hydrogen bonding, and active site interactions were analyzed to assess the inhibitory potential of each compound. Curcumin …


Case Report On Acute Hemorrhagic Acute Disseminated Encephalomyelitis (Adem) Following Parvovirus B19 Infection In An Immunocompetent Child, Akash Dnyandeo Sarkate, Sushma Save, Alpana Kondekar, Raja Rajan Jun 2025

Case Report On Acute Hemorrhagic Acute Disseminated Encephalomyelitis (Adem) Following Parvovirus B19 Infection In An Immunocompetent Child, Akash Dnyandeo Sarkate, Sushma Save, Alpana Kondekar, Raja Rajan

Digital Journal of Clinical Medicine

Acute disseminated encephalomyelitis (ADEM) is a rare, immune-mediated demyelinating disorder of the central nervous system, often triggered by viral infections. Parvovirus B19 has been implicated in various haematological and neurological manifestations; however, its association with acute hemorrhagic ADEM remains rare. Here, we report a case of a 5-year-old male immunocompetent child who developed ADEM following parvovirus B19 infection, emphasising the rarity of such presentations and the importance of early recognition and management.


Community Perspectives On Cancer And Cancer Research: Findings From Listening Sessions With Diverse Groups In Philadelphia, Karen Glanz, Emma A. Soliva, Krista Scheffey, Yawei Song, Charnita Zeigler-Johnson, Evelyn T. González, Thierry Fortune, Nilsa Graciani, Amy E. Leader Jun 2025

Community Perspectives On Cancer And Cancer Research: Findings From Listening Sessions With Diverse Groups In Philadelphia, Karen Glanz, Emma A. Soliva, Krista Scheffey, Yawei Song, Charnita Zeigler-Johnson, Evelyn T. González, Thierry Fortune, Nilsa Graciani, Amy E. Leader

Kimmel Cancer Center Faculty Papers

BACKGROUND: Listening sessions are useful for understanding community perspectives on cancer disparities. The Philadelphia Communities Conquering Cancer (PC3) coalition conducted listening sessions to identify community priorities for cancer prevention and control research among diverse communities in Philadelphia.

METHODS: Guided by a Stakeholder Advisory Committee, PC3 partnered with community-based organizations to conduct 8 listening sessions with diverse communities (including Black, Hispanic, Asian, Russian, LGBTQ + , and veterans) to learn about perceptions of cancer, research priorities, and training and communication preferences. Sessions were facilitated by community members or PC3 members in the primary language of participants. Sessions were audio recorded, transcribed, …


Childhood Gastroesophageal Reflux Disease: A Comprehensive Review Of Disease, Diagnosis, And Therapeutic Management, Daniyal Raza, Farhan Mohiuddin, Muhammad Haris Khan, Maheen Fawad, Syed Musa Raza Jun 2025

Childhood Gastroesophageal Reflux Disease: A Comprehensive Review Of Disease, Diagnosis, And Therapeutic Management, Daniyal Raza, Farhan Mohiuddin, Muhammad Haris Khan, Maheen Fawad, Syed Musa Raza

School of Medicine Faculty Publications

Gastroesophageal reflux disease (GERD) affects both adults and children, although the symptoms differ significantly between these groups. While adults typically experience heartburn and regurgitation, children may present with more subtle signs, such as failure to thrive, chronic cough, wheezing, and Sandifer syndrome. Diagnosing GERD in children necessitates a multifaceted approach due to the diverse symptomatology and challenges in communication. Clinical assessment serves as the cornerstone of diagnosis, supported by tools like pH monitoring, esophageal impedance testing, and upper gastrointestinal endoscopy. Imaging studies, such as barium swallow, can also provide valuable insights into anatomical abnormalities and the extent of reflux. Treatment …


Forecasting Influenza Rates Using Machine Learning: A Study Of Chatgpt's Predictive Accuracy, Sara Saleh Jun 2025

Forecasting Influenza Rates Using Machine Learning: A Study Of Chatgpt's Predictive Accuracy, Sara Saleh

University Honors Theses

This study evaluates ChatGPT's ability to forecast influenza rates, such as the number of flu cases, hospitalizations, and death during peak season periods using CDC data, and comparing forecasts against actual results to calculate statistical accuracy and consistency. Influenza forecasting is essential for public health planning, but traditional methods may not always provide timely or accurate predictions. In this research study, ChatGPT was utilized to predict the influenza rates for the following week based on the previous week's data obtained from the FluView surveillance system. The predicted rates were compared to the actual influenza rates to assess the model's overall …


Review Of Bronchiectasis Among Aboriginal And Torres Strait Islander Children And Young People (0-18 Years Old), André Schultz, Anne Chang Jun 2025

Review Of Bronchiectasis Among Aboriginal And Torres Strait Islander Children And Young People (0-18 Years Old), André Schultz, Anne Chang

Journal of the Australian Indigenous HealthInfoNet

Bronchiectasis is a chronic lung disease that often commences during childhood. The disease is often under-recognised but can have a significant lifelong impact and shorten survival. This review discussed bronchiectasis in the context of Aboriginal and Torres Strait Islander children and young people. The review includes section on disease prevalence, risk- and protective factors, prevention diagnosis and treatment, the role of the health system, government initiatives and future directions.


A Literature-Informed Nutrition Patient Communication Toolkit For Hashimoto’S Thyroiditis, Kieren Ritter Jun 2025

A Literature-Informed Nutrition Patient Communication Toolkit For Hashimoto’S Thyroiditis, Kieren Ritter

Department of Nutrition Student Projects

This project is intended to help bridge the gap in nutrition education and treatment for the autoimmune disease Hashimoto’s thyroiditis (HT). Current research was synthesized and converted into a communication tool for adults diagnosed with HT. The toolkit was based on 33 articles, from three databases, that passed the inclusion and exclusion criteria for analysis. The education toolkit was intended to be practical and valuable for below a high school reading level. The aforementioned articles reviewed the effects of dietary changes on HT with vitamin D, selenium, gluten removal, dietary patterns such as the Mediterranean diet and Autoimmune Protocol, and …


Infectious Endophthalmitis: An Overview Of Clinical Features, Microbiology Profile, And Antibiotic Sensitivity Pattern, Seyed Ali Tabatabaei, Ahmad Masoumi, Arash Mirzaei, Reza Mirshahi, Bita Momenaei, Faezeh Moghimpour Bijani, Ali Rashidinia, Mohammadreza Nazari, Mohammad Ahadifard, Zahra Mahdizad, Samer Habeel, Seyed Mahbod Baharnoori, Mohammad Soleimani Jun 2025

Infectious Endophthalmitis: An Overview Of Clinical Features, Microbiology Profile, And Antibiotic Sensitivity Pattern, Seyed Ali Tabatabaei, Ahmad Masoumi, Arash Mirzaei, Reza Mirshahi, Bita Momenaei, Faezeh Moghimpour Bijani, Ali Rashidinia, Mohammadreza Nazari, Mohammad Ahadifard, Zahra Mahdizad, Samer Habeel, Seyed Mahbod Baharnoori, Mohammad Soleimani

Wills Eye Hospital Papers

PURPOSE: To describe the demographic characteristics, etiology, microbiological spectrum, and antibiotic sensitivity patterns in patients with endophthalmitis.

METHODS: This is a retrospective case series spanning from May 2012 to September 2018. All included patients were diagnosed with endophthalmitis and confirmed by laboratory tests. Data were collected on patient demographics, types of endophthalmitis, and microbiologic and medical records.

RESULTS: Nine hundred ninety-two records of patients with endophthalmitis were assessed. Of the total cases, 657 patients (66.2%) were male, whereas 335 (33.8%) were female. The mean age of the patients was 57.2 ± 22.8 years and ranged from 2 to 95 years. …


Cross-Sectional Analysis Of Wound-Associated Soluble Factors In Early, Established, And Chronic Wounds Of Recessive Dystrophic Epidermolysis Bullosa Patients, Vitali Alexeev, Leonie Huitema, Taylor Phillips, Paras Patel, Mauricio Garza, Franziska Ringpfeil, Julio Salas-Alanis, Olga Igoucheva Jun 2025

Cross-Sectional Analysis Of Wound-Associated Soluble Factors In Early, Established, And Chronic Wounds Of Recessive Dystrophic Epidermolysis Bullosa Patients, Vitali Alexeev, Leonie Huitema, Taylor Phillips, Paras Patel, Mauricio Garza, Franziska Ringpfeil, Julio Salas-Alanis, Olga Igoucheva

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Poorly healing wounds represent the primary health-related burden for hereditary recessive dystrophic epidermolysis bullosa (RDEB) patients. Contribution of wound-associated soluble constituents to wound progression remains not well defined.

OBJECTIVE: To conduct cross-sectional analysis of cytokine, chemokine, and growth factor in exudates from RDEB wounds and define changes associated with wound progression.

METHODS: Concentrations of selected cytokines, chemokines, and growth factors were evaluated by multiplex ELISA in eight blister fluids and 66 exudates from early, established, and chronic RDEB and five chronic venous ulcers (VU). A cross-sectional analysis was performed.

RESULTS: Our data demonstrated that proinflammatory CXCL8 and IL-1β tend …


Refine: A Database Of Linked Clinical Data And Genomic Biomarkers In Renal Cell Carcinoma Patients Receiving Immunotherapy-Based Treatment Regimens, Jeffrey Zhong, Albert Jang, Bashar Abuqayas, Arnab Basu, David Benjamin, Vineel Bhatlapenumarthi, Mehmet Asim Bilen, Dhvani Buch, Mark Chang, Erica Chin, Sourat Darabi, Nagendra Dhanikonda, Pooja Ghatalia, Claud Grigg, Abby Grier, Tanya Jindal, Joannah Jung, Deepak Kilari, Hamsa Kumar, Suzanna Lee, Brittany Neelands, Chinmayi Pandya, Jeff Pawalek, Jaimee Staggers, Ahmet Yildirim, Yousef Zakharia, Kevin Zarrabi, Michael Zimmerman, George Sledge, David Spetzler, Andrew Elliott, Rana Mckay, Pedro Barata Jun 2025

Refine: A Database Of Linked Clinical Data And Genomic Biomarkers In Renal Cell Carcinoma Patients Receiving Immunotherapy-Based Treatment Regimens, Jeffrey Zhong, Albert Jang, Bashar Abuqayas, Arnab Basu, David Benjamin, Vineel Bhatlapenumarthi, Mehmet Asim Bilen, Dhvani Buch, Mark Chang, Erica Chin, Sourat Darabi, Nagendra Dhanikonda, Pooja Ghatalia, Claud Grigg, Abby Grier, Tanya Jindal, Joannah Jung, Deepak Kilari, Hamsa Kumar, Suzanna Lee, Brittany Neelands, Chinmayi Pandya, Jeff Pawalek, Jaimee Staggers, Ahmet Yildirim, Yousef Zakharia, Kevin Zarrabi, Michael Zimmerman, George Sledge, David Spetzler, Andrew Elliott, Rana Mckay, Pedro Barata

Department of Medical Oncology Faculty Papers

The REnal cancer consortium for Focused Investigation of Novel biomarkers and Expression (REFINE) consortium represents an important initiative in integrating clinical data with molecular sequencing in patients with advanced renal cell carcinoma (RCC) treated with immunotherapy-based approaches. By leveraging real-world evidence and genomic analysis, this consortium aims to explore putative predictive biomarkers with the potential to inform personalized treatment strategies. Findings from the REFINE database may further contribute to our understanding of disease courses of immunotherapy-based approaches for various molecular subtypes of RCC, associations of race and ethnicity with RCC treatment and outcomes with representation of patient populations underrepresented in …


Biomarker-Guided Imaging And Ai-Augmented Diagnosis Of Degenerative Joint Disease, Rahul Kumar, Kyle Sporn, Aryan Borole, Akshay Khanna, Chirag Gowda, Phani Paladugu, Alex Ngo, Ram Jagadeesan, Nasif Zaman, Alireza Tavakkoli Jun 2025

Biomarker-Guided Imaging And Ai-Augmented Diagnosis Of Degenerative Joint Disease, Rahul Kumar, Kyle Sporn, Aryan Borole, Akshay Khanna, Chirag Gowda, Phani Paladugu, Alex Ngo, Ram Jagadeesan, Nasif Zaman, Alireza Tavakkoli

Department of Medicine Faculty Papers

Degenerative joint disease remains a leading cause of global disability, with early diagnosis posing a significant clinical challenge due to its gradual onset and symptom overlap with other musculoskeletal disorders. This review focuses on emerging diagnostic strategies by synthesizing evidence specifically from studies that integrate biochemical biomarkers, advanced imaging techniques, and machine learning models relevant to osteoarthritis. We evaluate the diagnostic utility of cartilage degradation markers (e.g., CTX-II, COMP), inflammatory cytokines (e.g., IL-1β, TNF-α), and synovial fluid microRNA profiles, and how they correlate with quantitative imaging readouts from T2-mapping MRI, ultrasound elastography, and dual-energy CT. Furthermore, we highlight recent developments …


Comparison Of Open And Laparo-Endoscopic Repair Techniques For Patients With Bilateral Inguinal Hernias, Divyansh Agarwal, Tina Bharani, Nora Fullington, Lauren Ott, Kortney Hodgson, Daelyn Mcclain, Kaela Blake, Michael Reinhorn Jun 2025

Comparison Of Open And Laparo-Endoscopic Repair Techniques For Patients With Bilateral Inguinal Hernias, Divyansh Agarwal, Tina Bharani, Nora Fullington, Lauren Ott, Kortney Hodgson, Daelyn Mcclain, Kaela Blake, Michael Reinhorn

Department of Surgery Faculty Papers

INTRODUCTION: For primary bilateral inguinal hernias, international guidelines favor a laparoscopic posterior mesh repair due to relatively lower risk of acute and chronic pain, faster recovery, and favorable biomechanical properties compared to open anterior approaches (Lichtenstein, plug and patch, etc.). However, studies comparing open mesh-based bilateral inguinal hernia repairs to bilateral laparoscopic and robotic mesh-based approaches are limited. The Abdominal Core Health Quality Collaborative (ACHQC) registry includes longitudinal data on bilateral inguinal hernia repairs performed via open as well as laparo-endoscopic approaches. We hypothesize that outcomes for bilateral inguinal hernia repair are similar between open and laparo-endoscopic approaches in the …


Tumor Microenvironment Governs The Prognostic Landscape Of Immunotherapy For Head And Neck Squamous Cell Carcinoma: A Computational Model-Guided Analysis, Priyan Bhattacharya, Alban J Linnenbach, Andrew P. South, Ubaldo E. Martinez-Outshoorn, Joseph M. Curry, Jennifer M. Johnson, Larry A. Harshyne, Mỹ G. Mahoney, Adam J. Luginbuhl, Rajanikanth Vadigepalli Jun 2025

Tumor Microenvironment Governs The Prognostic Landscape Of Immunotherapy For Head And Neck Squamous Cell Carcinoma: A Computational Model-Guided Analysis, Priyan Bhattacharya, Alban J Linnenbach, Andrew P. South, Ubaldo E. Martinez-Outshoorn, Joseph M. Curry, Jennifer M. Johnson, Larry A. Harshyne, Mỹ G. Mahoney, Adam J. Luginbuhl, Rajanikanth Vadigepalli

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Immune checkpoint inhibition (ICI) has emerged as a critical treatment strategy for squamous cell carcinoma of the head and neck (HNSCC) that halts the immune escape of the tumor cells. Increasing evidence suggests that the onset, progression, and lack of/no response of HNSCC to ICI are emergent properties arising from the interactions within the tumor microenvironment (TME). Deciphering how the diversity of cellular and molecular interactions leads to distinct HNSCC TME subtypes subsequently governing the ICI response remains largely unexplored. We developed a cellular-molecular model of the HNSCC TME that incorporates multiple cell types, cellular states, and transitions, and molecularly …


A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker Jun 2025

A Novel Cardiomyopathy Phenotype Linked To A Chd7 Missense Variant, In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah Mclaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker

Center for Medical Ethics and Health Policy Staff Publications

Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense variant analysis at potential phosphorylation sites, we identified T730 (T720 in mice) as a critical residue associated with pathogenesis. Using a CHD7 T730 missense variant (Chd7T720A) and a frameshift null allele (Chd7fs) in a mouse model, we found that Chd7fs/fs mice were non-viable, while Chd7fs/+ mice exhibited haploinsufficiency-related circling behavior. Notably, Chd7fs/T720A mice died before postnatal …


Association Of Estimated Plasma Volume Status With Invasive Hemodynamics And All-Cause Mortality In Patients With Liver Cirrhosis, Esteban Kosak Lopez, Phuuwadith Wattanachayakul, Jose Manuel Martinez Manzano, Andrew Geller, Simone Jarrett, John Malin, Raul Leguizamon, Tara John, Rasha Khan, Ian Mclaren, Alexander Prendergast, Kevin Lo, Zurab Azmaiparashvili Jun 2025

Association Of Estimated Plasma Volume Status With Invasive Hemodynamics And All-Cause Mortality In Patients With Liver Cirrhosis, Esteban Kosak Lopez, Phuuwadith Wattanachayakul, Jose Manuel Martinez Manzano, Andrew Geller, Simone Jarrett, John Malin, Raul Leguizamon, Tara John, Rasha Khan, Ian Mclaren, Alexander Prendergast, Kevin Lo, Zurab Azmaiparashvili

Einstein Health Papers

BACKGROUND: Estimated plasma volume status (ePVS) correlates with intravascular congestion and prognosis in patients with heart failure. The ePVS relationship with invasive hemodynamic profiling and clinical outcomes in patients with liver cirrhosis (LC) remains unclear.

METHODS: This single-center retrospective cohort study included LC patients who underwent right heart catheterization (RHC) between 2018 and 2023. Estimated plasma volume status (ePVS) was calculated using the Strauss-derived Duarte formula, with patients classified into high (> 5.5%) and low-ePVS (≤ 5.5%) groups. Cox-multivariable analysis was used to determine if ePVS was associated with all-cause mortality within 1 year post-RHC among transplant-free patients.

RESULTS: Of …


Incidental Finding Of An Infarcted Epiploic Appendage Attached To The Sigmoid Colon, Ifeanyi K. Uche, Alec A. Hirsch Jun 2025

Incidental Finding Of An Infarcted Epiploic Appendage Attached To The Sigmoid Colon, Ifeanyi K. Uche, Alec A. Hirsch

School of Medicine Faculty Publications

Background: Epiploic appendagitis is a condition usually caused by infarction of the epiploic appendages, small outpouchings of adipose tissue found on the serosal surface of the colon. Epiploic appendagitis is a rare cause of acute lower abdominal pain, but the condition does not have any specific presenting clinical features and is often misdiagnosed as acute diverticulitis, appendicitis, or other gastrointestinal disorder. Case Report: A 53-year-old female presented with abnormal uterine bleeding and pelvic pain and was seeking definitive surgical management. During the patient’s total laparoscopic hysterectomy with bilateral salpingo-oophorectomy, an infarcted epiploic appendage attached to the sigmoid colon was found. …


Overcoming Vaccine-Associated Enhanced Respiratory Disease In Swine Flu With Lipid Nanoparticle-Dna Technology, The Nguyen Jun 2025

Overcoming Vaccine-Associated Enhanced Respiratory Disease In Swine Flu With Lipid Nanoparticle-Dna Technology, The Nguyen

School of Veterinary and Biomedical Sciences: Dissertations, Theses, and Student Research

The two primary challenges in developing vaccines against swine influenza A virus (IAV-S) are the continuous viral evolution and vaccine-associated enhanced respiratory disease (VAERD). Current vaccine strategies share a common limitation: the significant time required for licensing updated vaccines. Moreover, the strain selection for vaccine updates depends entirely on predictions, raising the risk that chosen strains may not match circulating viruses. Such mismatches not only reduce vaccine efficacy but also risk exacerbating disease severity through VAERD. Here, in this thesis, we developed and evaluated a novel DNA-based vaccine platform designed to address the need for rapid updates in response to …


Multiple Myeloma Presenting As An Ill-Defined Osteolytic Lesion Of The Mandibular Condyle: A Case Report And Literature Review, Connor Capobianco, Mariella Padilla, Jungsuk Cho, Lauren Levi Jun 2025

Multiple Myeloma Presenting As An Ill-Defined Osteolytic Lesion Of The Mandibular Condyle: A Case Report And Literature Review, Connor Capobianco, Mariella Padilla, Jungsuk Cho, Lauren Levi

Department of Oral and Maxillofacial Surgery Faculty Papers

Osteolytic lesions of the mandibular condyle can represent a diverse range of differential diagnoses, including malignancies such as metastatic disease, Langerhans cell histiocytosis (LCH), osteosarcoma, chondrosarcoma, and multiple myeloma. This case report details a 40-year-old male with a 3-year history of right temporomandibular joint (TMJ) pain, initially misdiagnosed as temporomandibular disorder. Comprehensive imaging studies, including cone beam computed tomography (CBCT), maxillofacial computed tomography (CT), and brain magnetic resonance imaging (MRI), revealed extensive osteolytic lesions in the mandible, frontal bone, and cervical spine. A CT-guided biopsy confirmed the presence of a plasma cell neoplasm, leading to the diagnosis of multiple myeloma. …


Insights On Human Papillomavirus Among Medical Students And Professionals, Fathima Thansiha, Amogha Shree, Rashmi S Jun 2025

Insights On Human Papillomavirus Among Medical Students And Professionals, Fathima Thansiha, Amogha Shree, Rashmi S

Digital Journal of Clinical Medicine

Background: As per World Health Organization, in 2022, 660000 women were diagnosed with cervical cancer worldwide and 350000 women died from the disease. Sexual behaviour is the major risk factor and exposure to Human Papillomavirus has been established as a causative agent in 70-80% of the cases for development of cervical cancer. Most infections with HPV resolve spontaneously and cause no symptoms, persistent infection can cause cervical cancer in women. Effective primary (HPV vaccination) and secondary prevention approaches (screening and treating precancerous lesions) will prevent most cervical cancer cases. Thus, study was conducted with the objective of assessing the knowledge …


Three-Dimensional Printed Models To Accelerate Resident Surgical Learning Curve For Standard Endoscopic Sinus Surgery Techniques, Jumah G Ahmad, Alexander J Citardi, Amber U Luong, William C Yao Jun 2025

Three-Dimensional Printed Models To Accelerate Resident Surgical Learning Curve For Standard Endoscopic Sinus Surgery Techniques, Jumah G Ahmad, Alexander J Citardi, Amber U Luong, William C Yao

Faculty, Staff and Student Publications

Background: Endoscopic sinus surgery presents significant visuospatial challenges to surgical trainees. We tested the utility of novel 3D printed models to simulate sinus surgery tasks to improve endoscopic skillsets in resident trainees.

Methods: This was a prospective quality improvement study of 10 ENT residents (PGY1-5). Participants rotated through 4 stations with different 3D simulation training modules designed to enhance endoscopic skillsets in the axial, sagittal and coronal planes (e.g., straight forceps to grasp a bead from a ledge, angled instruments to cannulate openings). Participants completed a self-assessment survey on the subjective sinus surgical skills using a visual analog …


Self-Reported Audiological And Vestibular Symptoms Associated With Lyme Disease, Daniella A. Bryan Jun 2025

Self-Reported Audiological And Vestibular Symptoms Associated With Lyme Disease, Daniella A. Bryan

Dissertations, Theses, and Capstone Projects

Background:

Lyme disease, an infectious vector-borne illness, is carried by the deer tick, Ixodes scapularis, which harbor the spirochete, Borrelia burgdorferi, affecting hundreds of thousands of people in the United States annually. Lyme disease has a multitude of clinical presentations and overlaps with other complex illnesses, making diagnosis and treatment a medical challenge. This distinct bacterium can migrate into any organ system through the mediums of soft tissue, the lymphatic system, and the circulatory system. Despite its prevalence and range in symptomatology, minimal research has been conducted to identify distinct audiological and vestibular symptoms associated with a Lyme …


Fracture Patterns In Craniofacial Gunshot Wounds: A Seven-Year Experience, Gabriela G Cruz, Sameer H Siddiqui, David Z Allen, Kunal R Shetty, Sean P Mckee, Brady J Anderson, Mark Knackstedt, W Katherine Kao, Tang Ho Jun 2025

Fracture Patterns In Craniofacial Gunshot Wounds: A Seven-Year Experience, Gabriela G Cruz, Sameer H Siddiqui, David Z Allen, Kunal R Shetty, Sean P Mckee, Brady J Anderson, Mark Knackstedt, W Katherine Kao, Tang Ho

Faculty, Staff and Student Publications

Objective: To characterize facial fracture patterns and understand predictors of surgical repair and LOS with the objective of assisting providers in managing and understanding these complex injuries.

Study design: This is a retrospective cohort chart review study.

Methods: A retrospective review was conducted for patients admitted with gunshot wounds (GSWs) to the head, neck, or face between January 2013 and March 2020 at a level one trauma tertiary care hospital. Univariate and multivariate analysis were performed to identify associations with surgical repair and LOS.

Results: Of the 578 patients with head, neck, or facial GSWs, 204 survived and sustained facial …


Association Between Timing Of Angiotensin Ii Administration And Outcomes In Vasoplegia After Cardiac Surgery, Travis J Miles, Michael T Guinn, Orlando R Suero, Todd K Rosengart, Marc R Moon, Joseph S Coselli, Ravi K Ghanta, Subhasis Chatterjee Jun 2025

Association Between Timing Of Angiotensin Ii Administration And Outcomes In Vasoplegia After Cardiac Surgery, Travis J Miles, Michael T Guinn, Orlando R Suero, Todd K Rosengart, Marc R Moon, Joseph S Coselli, Ravi K Ghanta, Subhasis Chatterjee

Faculty, Staff and Students Publications

Objective: Vasoplegic shock after cardiopulmonary bypass (CPB) is a highly morbid condition. The novel vasopressor angiotensin II is increasingly being used for catecholamine-resistant vasoplegia. Although early intervention with adjunctive therapies such as methylene blue can improve outcomes of vasoplegia, the optimal timing for escalation with angiotensin II is unknown.

Methods: Pharmacologic data were extracted from electronic health records for patients who underwent surgery with CPB during 2017-2022. Patients were identified who received angiotensin II intraoperatively or postoperatively (ie, early or late). Multivariable logistic regression was used to determine the risk-adjusted effects of earlier angiotensin II administration on postoperative major adverse …