Diseases Commons^™

An Exploratory Pharmacogenetic Pilot Study Of Two Reverse Transcriptase Inhibitors, Tenofovir Alafenamide Fumarate And Tenofovir Disoproxil Fumarate, Derek E. Murrell, Benjamin C. Kennard, Maria E. Bertoni, David B. Cluck, Jonathan P. Moorman, Stacy D. Brown, Keshang Wang, Michelle M. Duffourc, Sam Harirforoosh

Pharmacy Faculty Articles and Research

Background and Objectives

The nucleoside reverse transcriptase inhibitors tenofovir alafenamide fumarate and tenofovir disoproxil fumarate are frequently employed in treating human immunodeficiency virus. Further, each form of tenofovir requires laboratory monitoring to determine efficacy and tolerability among patients. This study sought to investigate the relationship, if any, of single nucleotide polymorphisms (SNPs) and selected clinical parameters.

Methods

The study population, predominantly Caucasian males with a median age of 53.0 years [interquartile range 46.0–59.0], was assayed for genetic variations using an iPLEX ADME PGx Pro v1.0 Panel.

Results

Although several SNP relationships were found with both forms of tenofovir, many of …

Engineering A Novel Treg Population To Control Autoimmune Diabetes, Sofia Colon Guzman, Elly Puckett, Mary A. Markiewicz, Ryan T. Fischer

Research Days

We created a model to test the immunosuppressive capacity of Helios+FOXP3+ eTregs compared to nTregs against islet-specific autoreactive T cells. We also showed that nTregs decrease the response of these cytotoxic T cells when co-cultured with BetaLox5 cells.

Integrating Positive Psychology And Spirituality To Foster Meaning And Well-Being In Older Adults, Crystal Morris

Adultspan Journal

This perspective article explores the integration of positive psychology interventions (PPIs) and spirituality in therapy to foster meaning and well-being in older adults. It highlights exercises such as the positive introduction, positive legacy, character strengths, mindfulness, mindful-based yoga, and a manifestation prayer journaling. The interventions presented are tools to support older adults that may experience depression, difficult life transitions, and the search for renewed meaning. Therapists who integrate PPIs and spirituality into therapy can promote a holistic, non-pathological approach to treatment.

A Systematic Review Of Neutrophilic Alopecias Of The Scalp In The Pediatric Population, Nesreen Shahrour, Layan Shahrour, Rahib K. Islam, Yoseph Dalia

School of Medicine Faculty Publications

Neutrophilic alopecias of the scalp - including dissecting cellulitis of the scalp, folliculitis decalvans, and Acne Keloidalis Nuchae - are rare, scarring, inflammatory disorders with overlapping clinical and histopathologic features that present unique diagnostic and therapeutic challenges in pediatric populations. This systematic review synthesizes findings from 35 eligible studies identified through a search of Medical Literature Analysis and Retrieval System Online, Excerpta Medica Database, Central Cochrane Medical Database, Cumulative Index to Nursing and Allied Health Literature, and Web of Science, focusing on treatment modalities and outcomes in children. Patients with dissecting cellulitis of the scalp often present with erythematous, tender …

Autoimmune Encephalitis Presenting As Pseudodementia (Case Report), Renita Ng, Christie Richardson

Rowan-Virtua Research Day

Patients with autoimmune encephalitis frequently present with psychiatric symptoms including psychosis, behavioral changes, and affective disorders. Because of this, misdiagnosis of a primary psychiatric disorder in a case of autoimmune encephalitis is not uncommon. We present a case of autoimmune encephalitis in a 72 year old who was initially thought to have psuedodementia or catatonia due to variable collateral who later on LP was found to have markers and responded to steroid treatment. This case highlights the importance of maintaining a broad differential with patients who present with psychiatric alterations and to consider other causes of behavioral change.

Case Report: Recurrent Miller Fisher Syndrome, Devin Hoover, Andrew Vasta, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

We report the case of a 47-year-old male who presented with numbness and difficulty speaking and was diagnosed with Miller Fisher Syndrome, a variant Guillain-Barré Syndrome. The differential diagnosis for numbness and speech difficulty is broad and includes brain stem stroke, Wernicke encephalopathy, botulism, myasthenia gravis, among others. Although Miller Fisher Syndrome is rare, certain factors such as the of tumor necrosis factor-alpha antagonists may predispose a patient to the disease and its recurrence. As discovery of new tumor necrosis factor-alpha antagonists continues it will likely result in more presentations of Guillain-Barré Syndrome and its variants to the emergency department.

Miller Fisher Variant Of Guillain- Barré Syndrome, Peter Killian, Kishan B. Patel

Rowan-Virtua Research Day

We present a case of a man in his 50s who was evaluated in the emergency department for right facial droop, myalgias, and right lower extremity weakness. The patient required multiple interdisciplinary specialists for treatment and diagnosis of Guillain-Barré Syndrome (GBS). The differential for weakness and facial droop is primarily aimed at ruling out an irreversible neurological cause while investigating a potential infectious etiology. Multiple variants of GBS exist and clinical presentations can vary, including the Miller Fisher Variant. This variant features a unique presentation, affecting the corticobulbar tract, evident with the ptosis commonly seen following a gastrointestinal infection.

A Rare Case Of Diffuse Alveolar Hemorrhage In The Setting Of Iga Nephropathy, Vasculitis And Atypical Hemolytic Uremic Syndrome In A Previously Healthy Young Adult, Karl Schlicht, Nancy Kaura

Rowan-Virtua Research Day

IgA Nephropathy, also known as Berger disease, can precipitate acute renal failure in patients. IgA Nephropathy (IgAN) is deposition of protein from IgA into the renal tissue with subsequent renal dysfunction. IgA vasculitis (IgAV) is another condition where similarly the protein of IgA is deposited into the vessels. There are some cases of co-existing atypical hemolytic uremic syndrome (aHUS) with IgAN. However, rare combinations seen with all three IgAN, IgAV, and aHUS without any pre-existing conditions nor medical history. Patients that develop any one of these conditions are looking at life long changes with hemodialysis (HD) and organ transplants being …

Navigating Insulin Access For Pediatric Type 1 Diabetes: Caregivers' Experiences And Challenges, Ella Anderson

Doctoral Dissertations

Between 2012 and 2018, the annual 14% increase in insulin prices made Type 1 Diabetes (T1D) the most expensive chronic health condition, significantly raising out-of-pocket costs for uninsured or underinsured individuals in the United States (Hayes & Farmer, 2020; Willner et al., 2020). This study utilized a qualitative content analysis methodology to explore the challenges and experiences of parents with children diagnosed with T1D with accessing insulin for their child. Five participants from various areas of the United States responded to open-ended questions both in person and via Zoom. The analysis revealed three main themes: pragmatics of managing diabetic care, …

Editorial: Women In Science: Allergy Research, Gemma Carreras-Badosa, Vanesa Esteban, Vivian Hernandez-Trujillo, Elina Toskala, Manali Mukherjee, Saba Al Heialy, Karin Fieten

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

No abstract provided.

Enhancing Holistic Patient Care Of Black Individuals Diagnosed With Hiv And Comorbid Chronic Conditions, Marc Fleming, Saharnaz Nejdat, Jon C. Schommer, Crystal K. Hodge

Pharmacy Faculty Articles and Research

Background

Pharmacists can play a crucial role in delivering the holistic care model. Research suggests that HIV-positive African American patients particularly benefit from this approach compared to other communities. Typically, pharmacists in community pharmacy settings are limited in their access to a patient's medical record, preventing holistic care delivery.

Objectives

This study addressed the impact of access to medical records on a holistic patient care approach among pharmacists engaged in medication therapy management.

Methods

This was a sub-analysis of a randomized controlled trial of the impact of community pharmacist access to medical records during MTM for African Americans diagnosed with …

Haemato-Urological Profile And Asymptomatic Urinary Tract Infection In Ghanaian Steady-State Sickle Cell Disease Patients: A Case-Control Study, Stephen Twumasi, Richard Owusu Ansah, Samuel Essien-Baidoo, Laud Anthony W. Basing, Alexander Yaw Debrah, Enoch Odame Anto, Allwell Adofo Ayirebi, Rebecca Asiamah-Broni, Waldemer Attivor, Eric Twum Ameyaw, Gabriel Addai Manu, Edward Afriyie, Thomas Kwabena Gyampomah, Joseph Nkrumah Opoku, Prince Kwadwo Amoafo, Samuel Kelvin Owusu, Vincent Akwai, Matthew Talmang, Amos Mensah, Isaac Kusi-Amponsah, Angela Opoku, Lilian Antwi Boateng

Research outputs 2022 to 2026

Background and Aims: Due to the reduction in immunity caused by auto-splenectomy and the consequent opsonic antibody shortage, patients with SCD are more susceptible to encapsulated organism infections, especially asymptomatic urinary tract infection (ASM-UTI). This study investigated the prevalence of ASM-UTI and compared urine and hematology parameters among SCD patients in Ghana to their healthy counterparts. Methods: In this study, 104 SCD participants (cases) and 80 non-SCD (HbAA) controls were recruited. Participants' information was thoroughly documented using a well-structured questionnaire and patient case records. To achieve the study's aims, a mid-stream urine in a cleaned dry aseptic urine capped container …

Infeksi Oportunistik Pada Pasien Hiv Yang Dirawat Inap Di Rsup Dr. Hasan Sadikin Bandung Tahun 2019-2022, Katarina Salma, Yovita Hartantri, Nisa Fauziah

Jurnal Penyakit Dalam Indonesia

Introduction. Human Immunodeficiency Virus (HIV) is a virus that infects and attacks the human immune system. The high morbidity and mortality rates in HIV patients can be attributed to various factors, one of which is the presence of opportunistic infections due to the weakened immune response, making HIV patients highly susceptible to other infections. This study aims to provide an overview of opportunistic infections in HIV patients hospitalized at Dr. Hasan Sadikin General Hospital in Bandung within the period of 2019-2022.

Methods. This descriptive observational study was conducted on 255 HIV patients with opportunistic infections who were hospitalized at dr. …

Use Of Upadacitinib For Recalcitrant Oral Erosive Lichen Planus, Connor A. Sheehan, Nicholas D. Brownstone, Jason B. Lee, Sylvia Hsu

Department of Dermatology and Cutaneous Biology Faculty Papers

No abstract provided.

Mechanisms Of Macrophage Metabolic Activation And Paracrine Wnt Signaling In The Pathogenesis Of Systemic Sclerosis, Emily Ann Morris

Dartmouth College Ph.D Dissertations

Systemic sclerosis (SSc) is a chronic autoimmune disease of unknown etiology. We have previously shown that macrophages (MØs) play a critical role in its pathogenesis; however, the mechanisms driving MØ activation in SSc remain poorly understood. This dissertation investigates the molecular signaling pathways and biochemical mechanisms underlying profibrotic MØ activity in SSc.

First, I identify a novel MØ-specific effect of mycophenolate mofetil (MMF), the standard-of-care treatment for SSc. While MMF is a well characterized lymphostatic, my findings demonstrate that its active metabolite, mycophenolic acid (MPA), is also capable of directly inhibiting myeloid viability and profibrotic MØ activation by suppressing de …

Progressive Multifocal Leukoencephalopathy (Pml) Induced By Jc Virus: A Case Report And Review Of Clinical Implications, Hugo Zamarron, Roberto Cruz

Research Symposium

Background: Progressive multifocal leukoencephalopathy (PML) is a rare but serious demyelinating disease of the central nervous system, caused by the John Cunningham (JC) virus. While the JC virus is common in the general population, it remains dormant in healthy individuals but can reactivate in immunocompromised patients, particularly those with HIV/AIDS or undergoing immunosuppressive treatments for organ transplants or autoimmune conditions. The virus attacks oligodendrocytes, leading to demyelination and significant neurological deficits. Immunosuppressive therapies such as natalizumab, rituximab, and mycophenolate increase the risk of PML. Diagnosing PML is challenging as its symptoms—focal neurological deficits, sensory-motor issues, and visual disturbances—overlap with conditions …

Long-Term Safety And Comparative Efficacy Of Il-17 Inhibitors In Treating Ankylosing Spondylitis, Alyssa L. Sepulveda, Yolanda V. Gutierrez, Ronald A. Shaju

Research Symposium

Background:
Ankylosing Spondylitis (AS) is a chronic inflammatory disease affecting the axial skeleton, characterized by spinal stiffness, sacroiliitis, and potential vertebral fusion. While nonsteroidal anti-inflammatory drugs (NSAIDs) and tumor necrosis factor (TNF) inhibitors are first-line treatments, IL-17 inhibitors, such as secukinumab and ixekizumab, are used in patients with inadequate response or contraindications to TNF inhibitors. These targeted therapies address IL-17’s role in driving inflammation and structural damage in AS.

Methods:
A systematic review was conducted using PubMed, Science Direct, and Cochrane to identify studies published between 2000 and 2025. Keywords included “Ankylosing spondylitis” and “IL-17 inhibitors” and “efficacy.” Inclusion criteria …

Immunogenetic Studies In Patients With Gad-Positive Stiff-Person Syndrome Reveal Novel Lymphocytic Genes And Klk10 -Gene Variants, Popianna Tsiortou, Harry Alexopoulos, Konstantinos Kyriakidis, Michalis Kosmidis, Chrysanthi Barba, Sofia Akrivou, Ioannis Michalopoulos, Panagiotis Politis, Marinos Dalakas

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: The aim of this study was to identify genetic markers and immunologic characteristics of glutamic acid decarboxylase (GAD) antibody-positive patients with stiff-person syndrome (SPS).

METHODS: We conducted systemic immunogenetic studies in 11 GAD-positive patients: 8 with sporadic SPS and 3 from a three-generation family with very high GAD-ab titers but diverse symptomatology (one with GAD-epilepsy and SPS and 2 only with diabetes), by performing complete immunologic profile and whole-exome sequencing analysis.

RESULTS: Two genes expressed in immune and neuronal tissues were identified: the ORAI1 that codes for a calcium release–activated channel protein with a role in the …

Refractory Dermatitis Evolving Into Lupus Spectrum Disease In The Setting Of Dupilumab Use, Jonathan M. Joseph, Jacob Kilgore, Nicholas Culotta

School of Medicine Faculty Publications

Cutaneous lupus erythematosus (CLE) encompasses a broad range of clinical and histopathologic variants that can overlap with other dermatologic entities, complicating accurate diagnosis. We report the case of a 42-year-old male patient who initially presented with a diffuse pruritic eruption presumed to be atopic dermatitis, for which dupilumab was initiated. Within the following weeks, the patient developed a fever of unknown origin and diarrhea, raising concern for an atypical drug-related reaction or an unmasked autoimmune process. Subsequent biopsies demonstrated evolving histopathologic features, including superficial and deep perivascular dermatitis suggestive of drug eruption. In addition, a dermal mucin deposition with mixed …

Zika Virus Ns1 Drives Tunneling Nanotube Formation For Mitochondrial Transfer And Stealth Transmission In Trophoblasts, Rafael T Michita, Long B Tran, Steven J Bark, Deepak Kumar, Shay A Toner, Joyce Jose, Indira U Mysorekar, Anoop Narayanan

Faculty, Staff and Students Publications

Zika virus (ZIKV) is unique among orthoflaviviruses in its vertical transmission capacity in humans, yet the underlying mechanisms remain incompletely understood. Here, we show that ZIKV induces tunneling nanotubes (TNTs) in placental trophoblasts which facilitate transfer of viral particles, proteins, mitochondria, and RNA to neighboring uninfected cells. TNT formation is driven exclusively via ZIKV non-structural protein 1 (NS1). Specifically, the N-terminal 1-50 amino acids of membrane-bound ZIKV NS1 are necessary for triggering TNT formation in host cells. Trophoblasts infected with TNT-deficient ZIKV

A Galleria Mellonella Study: Protective Effects Of Sulforaphane On Immune Function In Binge Alcohol Exposure, Robert Kento Darby, Braydon Black, Vincent Tran, Dallen James, Scott Quimby

Annual Research Symposium

Alcohol is associated with increased mortality and morbidity. Pulmonary infections with opportunistic pathogens can occur in healthy humans; however, hazardous alcohol exposure like binge alcohol intoxication (≥ 0.08% BAC) is a major risk factor. We’ve previously investigated the efficacy of Sulforaphane (SFN) prophylaxis in protecting human and murine alveolar macrophage function against opportunistic infections when exposed to binge alcohol conditions in vitro. However, an in vivo model investigating SFN and hazardous alcohol exposure in the context of infection is not well understood. The aim of this study is to 1) establish a G. mellonella larvae model by determining the LD50 …

Use Of Immunoglobulin Replacement Therapy In Clinical Practice: A Review, Jibran Ahmed, Yeonjoo Choi, Taeyeong Ko, Joann Lim, Joud Hajjar

Faculty, Staff and Students Publications

Immunoglobulins (Igs) are produced by B lymphocytes and play a key role in humoral immunity. Igs are classified into five isotypes (IgG, IgA, IgM, IgE, and IgD). Their primary function is to recognize and bind to foreign antigens. When Igs bind to antigens, they facilitate phagocytosis and promote clearance mediated by other immune cells. It is an essential component in protecting the host from outside pathogens. Hypogammaglobulinemia predisposes an individual to severe and recurrent infections. Therefore, replacement therapy is recommended to maintain optimal Ig level. In addition, Igs can modulate immune responses by to neutralizing proteins such as endotoxins or …

Sinusitis And Rhinitis Among Us Veterans Deployed To Southwest Asia And Afghanistan After September 11, 2001, Jennifer Maccarone, Carrie A Redlich, Andrew Timmons, Anna M Korpak, Nicholas L Smith, Karen S Nakayama, Coleen P Baird, Paul Ciminera, Farrah Kheradmand, Vincent S Fan, Jaime E Hart, Petros Koutrakis, Ware G Kuschner, Octavian C Ioachimescu, Michael Jerrett, Philippe R Montgrain, Susan P Proctor, Christine H Wendt, Cherry Wongtrakool, Emily S Wan, Paul D Blanc, Eric Garshick

Faculty, Staff and Students Publications

BACKGROUND: Post-9/11 veterans were exposed to environmental and occupational pollutants during deployment.

OBJECTIVE: Our aim was to determine associations between deployment-related exposures and sinusitis and rhinitis.

METHODS: Between April 2018 and March 2020, veterans with land-based deployment after 9/11 who were living within 25 miles of 6 Department of Veteran Affairs medical centers were randomly chosen by using a Defense Manpower Data Center roster. Participants completed interviewer-administered questionnaires, which included a 32-item deployment exposure battery and self-report of rhinitis and health professional-diagnosed sinusitis. Exposure categories included burn pit smoke, combustion engine exhaust/ground dust, other open combustion sources, toxicants, and military …

Hybrid Versus Vaccine Immunity Of Mrna-1273 Among People Living With Hiv In East And Southern Africa: A Prospective Cohort Analysis From The Multicentre Covpn 3008 (Ubuntu) Study, Nigel Garrett, Asa Tapley, Aaron Hudson, Sufia Dadabhai, Bo Zhang, Nyaradzo M Mgodi, Jessica Andriesen, Azwidihwi Takalani, Leigh H Fisher, Jia Jin Kee, Craig A Magaret, Manuel Villaran, John Hural, Erica Andersen-Nissen, Guido Ferarri, Maurine D Miner, Bert Le Roux, Eduan Wilkinson, Richard Lessells, Tulio De Oliveira, Jackline Odhiambo, Parth Shah, Laura Polakowski, Margaret Yacovone, Taraz Samandari, Zvavahera Chirenje, Peter James Elyanu, Joseph Makhema, Ethel Kamuti, Harriet Nuwagaba-Biribonwoha, Sharlaa Badal-Faesen, William Brumskine, Soritha Coetzer, Rodney Dawson, Sinead Delany-Moretlwe, Andreas Henri Diacon, Samantha Fry, Katherine Margaret Gill, Zaheer Ahmed Ebrahim Hoosain, Mina C Hosseinipour, Mubiana Inambao, Craig Innes, Steve Innes, Dishiki Kalonji, Margaret Kasaro, Priya Kassim, Noel Kayange, William Kilembe, Fatima Laher, Moelo Malahleha, Vongane Louisa Maluleke, Grace Mboya, Kirsten Mcharry, Essack Mitha, Kathryn Mngadi, Pamela Mda, Tumelo Moloantoa, Cissy Kityo Mutuluuza, Nivashnee Naicker, Vimla Naicker, Anusha Nana, Annet Nanvubya, Maphoshane Nchabeleng, Walter Otieno, Elsje Louise Potgieter, Disebo Potloane, Zelda Punt, Jamil Said, Yashna Singh, Mohammed Siddique Tayob, Yacoob Vahed, Deo Ogema Wabwire, M Juliana Mcelrath, James G Kublin, Linda-Gail Bekker, Peter B Gilbert, Lawrence Corey, Glenda E Gray, Yunda Huang, Philip Kotze, Covpn 3008 Ubuntu Study Team

Faculty, Staff and Students Publications

BACKGROUND: With limited access to mRNA COVID-19 vaccines in lower income countries, and people living with HIV (PLWH) largely excluded from clinical trials, Part A of the multicentre CoVPN 3008 (Ubuntu) study aimed to assess the safety of mRNA-1273, the relative effectiveness of hybrid versus vaccine immunity, and SARS-CoV-2 viral persistence among PLWH in East and Southern Africa during the omicron outbreak.

METHODS: Previously unvaccinated adults with HIV and/or other comorbidities associated with severe COVID-19 received either one (hybrid immunity) or two (vaccine immunity) 100-mcg doses of ancestral strain mRNA-1273 in the first month, depending on baseline evidence of prior …

Prevalence Of Autoimmune Diseases In Patients Treated With Immune Checkpoint Inhibitors: An Epidemiological Study Using A Global Network Of Health Care Organizations, Pushti Khandwala, Devashish Desai, Arthur Lau

Einstein Health Papers

OBJECTIVE: Evaluate prevalence of new onset autoimmune conditions (ACs) after commencement of immune checkpoint inhibitors (ICIs).

METHODS: This retrospective observational study was done using TriNetX. Patients with neoplasm for which ICIs were approved were stratified into two groups based on ICI use. Multivariate Cox proportional hazard models and Kaplan Meier method were used to assess risk of developing ACs among the groups. Subgroup analysis was done to evaluate risk of ACs in patients receiving cytotoxic T-lymphocyte-associated protein 4 inhibitor (CTLA4i) versus program cell death protein 1 inhibitor (PD1i) and program death ligand 1 inhibitor (PDL1i) inhibitors and combination treatment (CT) …

Atrial Fibrillation Recurrence Risk After Catheter Ablation In Patients With Rheumatoid Arthritis: A Systematic Review And Meta-Analysis, Pongprueth Rujirachun, Phuuwadith Wattanachayakul, Svita Taveeamornrat, Patompong Ungprasert, Nithi Tokavanich, Krit Jongnarangsin

Einstein Health Papers

BACKGROUND: The association between rheumatoid arthritis (RA) and the risk of developing atrial fibrillation (AF) is well-established. However, data on the impact of RA on AF recurrence postcatheter ablation (CA) remain unclear. This current study aimed to assess the impact of RA on AF recurrence after catheter-based pulmonary vein isolation.

METHODS: Potentially eligible studies were identified from Medline and EMBASE databases from inception to December 20, 2023. Eligible study must consist of two cohorts of patients with and without RA who underwent catheter ablation for AF. Pooled risk ratio (RR) and 95% CI were calculated using Dersimonian and Laird's random-effect, …

A Case Of Injury-Induced Pyoderma Gangrenosum Requiring Skin Graft, Yukiko Brewer, Nameer Ascandar, Tesnim Hamdan, Iryna Witt, Sana Khan, Robert Cropper

West Florida Division GME Research Day 2025

No abstract provided.

Covid-19 Induced Mda5-Associated Necrotizing Myositis, Sarah Steadman, Amit Sikder, Harsh R. Desai, Bradley Collins, Tiffany Baker, Julie Worthington

South Atlantic Division GME Research Day 2025

No abstract provided.

Co-Occurrence Of Autoimmune Hepatitis And Pheochromocytoma: A Complex Diagnostic And Treatment Challenge, Himani Patel, Gabrielle Aiello, Taylor Frazier, Sage Havrilla, Payton Williams, Meghan Rosenquist

South Atlantic Division GME Research Day 2025

No abstract provided.

Levothyroxine And Drug-Induced Lupus Erythematosus: A Retrospective Cohort Study, Tue Nguyen, Yousef Salem, Aqsa Kanwal, Aeja Weiss

Gulf Coast Division GME Research Day 2025

No abstract provided.