Pathological Conditions, Signs and Symptoms Commons^™

Postoperative Complications In Patients With Sickle Cell Disease After Total Shoulder Arthroplasty, Katie Zehner, Gwyneth C. Maloy, John Slevin, Wesley Day, Mitchell K. Ng, Xuan Luo, Jonathan N. Grauer, Arya G. Varthi

Rothman Institute Papers

BACKGROUND: Sickle cell disease (SCD) encompasses a spectrum of genetic hematologic disorders characterized by erythrocyte sickling. Patients may experience musculoskeletal manifestations, such as osteonecrosis, which may warrant consideration for total shoulder arthroplasty (TSA). While prior literature suggests patients with SCD more frequently suffer complications after orthopaedic procedures, this is not well characterized for TSA.

METHODS: Adult TSA patients (older than 18 years) were identified in the 2010 to 2023 PearlDiver M170 database. Patients with SCD were matched 1:4 to patients without SCD based on age, sex, and Elixhauser Comorbidity Index (ECI). Ninety-day postoperative complications, emergency department (ED) visits, and readmissions …

Surgical Outcomes Of Hidradenitis Suppurativa Excision: Factors Impacting Wound Healing Time, Christina Huang, Scott H. Koeneman, Sherry Yang, Sami Tannour

Department of Surgery Faculty Papers

Hidradenitis suppurativa (HS) can be treated surgically to excise recurrent and recalcitrant regions of disease activity. However, surgical outcomes are highly variable depending on closure method, concomitant medical management and area of excision. In this study, we aim to characterise the healing courses from HS excision in a case series. To reduce operator variability, we opted to conduct a case series from a single surgeon. Surgeries conducted from June 2024-December 2025 by surgeon S.T. were included, and the postoperative course was followed until February 2026. Surgical details and postoperative course for 34 sites of HS across 20 patients were analysed. …

"It's Probably Like A Web": Complex Relationships Between Pain And Mental Health Among Bisexual+ Women With Chronic Pain, Aster Harrison, Mansha Mirza

Department of Occupational Therapy Faculty Papers

INTRODUCTION: Bisexual+ women experience higher rates of both mental illness and chronic pain when compared to either straight or lesbian women. Their experiences of the relationship between their mental health and chronic pain remain underexplored. This article presents an intersectional Interpretive Phenomenological Analysis of the experiences of six bisexual+ women with chronic pain.

METHODS: Each woman completed two semi-structured interviews. Interviews were analyzed with Interpretive Phenomenological Analysis, beginning with in-depth case study analysis of each person's interviews before moving to comparison across cases.

RESULTS: Results indicated a complex web of multidirectional relationships between mental health and chronic pain. These relationships …

Pearson Syndrome: Expanding The Clinical Spectrum Of A Mitochondrial Cytopathy-A Case Report, Alizah Faisal, Hooria Waqas, Hania Masood, Armeen Butt, Saad Rahman, Muhammad Sheraz Hameed, Syed Rafay Hussain Zaidi, Ali Iqbal, Muhammad Usama Naveed

Department of Medicine Faculty Papers

BACKGROUND: Pearson syndrome (PS) is a rare multisystem mitochondrial disorder characterized by single large-scale mitochondrial DNA deletions (SLSMDs). It typically presents in infancy with refractory sideroblastic anemia, exocrine pancreatic insufficiency, and failure to thrive. Due to its heterogeneous manifestations and resemblance to other hematological conditions, early diagnosis remains a clinical challenge.

CASE PRESENTATION: A south asian male infant presented with persistent pancytopenia, severe anemia unresponsive to intravenous and oral iron and multivitamin supplements, exocrine pancreatic insufficiency, failure to thrive, and metabolic acidosis. Born to consanguineous parents, the child had a significant family history of early infant deaths and hematological abnormalities. …

Pruritus Associated With Systemic Sclerosis: A Systematic Review Of Treatment-Based Clinical Trials, Kiana Mortezaei, Rishika Pasula, Meryem Nursoy, Amit Syal, Ioannis Panayiotou, Geeta Kumari, Andreas Chatzitoffis, Pavle Milutinovic, Olajumoke O. Fadugba, Chris T. Derk

Student Papers, Posters & Projects

This paper aims to examine the latest research on treatments for itch (pruritus) in people with systemic sclerosis (SSc), identify areas where information is lacking, and propose suggestions for future studies.A comprehensive literature search was performed in PubMed and Scopus in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines to identify studies evaluating therapeutic interventions for pruritus in SSc. Eligible studies included randomized controlled trials, cohort studies, and case series comprising a minimum of three patients. Data extraction encompassed study design, patient demographics, pruritus assessment instruments including validated and non-validated measures, and clinical outcomes. Studies …

Cryoneurolysis Of Auriculotemporal Nerve For Treatment Of Otalgia, Nikit Patel, Shireen Rabiei, Daniel Moon, Yevgeniya Sergeyenko

Moss-Magee Rehabilitation Papers

Otalgia in adults is often secondary to non-otologic pathology, particularly with normal otoscopic examination. Auriculotemporal neuralgia (ATN) is a rare and overlooked cause of secondary otalgia. We present a case of an Army veteran with chronic right otalgia and dizziness following blast-related mild traumatic brain injury who was initially diagnosed with vestibular migraine. Despite significant improvement in headache symptoms with migraine-directed preventive and abortive treatments, otalgia persisted. Auriculotemporal nerve block produced complete but short-lived pain relief, confirming ATN. Cryoneurolysis of the auriculotemporal nerve resulted in complete resolution of otalgia for 2-3 months after first and second treatments. However, transient worsening …

Knowledge, Skills, And Attitudinal Gaps In Fibrodysplasia Ossificans Progressiva Diagnosis And Management In The United States, Patrice Lazure, Matthew Drake, Michelle Davis, Corrie Crowe, Zvi Grunwald, Lu Fan, Suzanne Murray

Department of Anesthesiology Faculty Papers

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare and disabling disease. Preventing unnecessary and/or harmful medical procedures to patients requires early and accurate diagnosis, multidisciplinary care, and access to specialists with FOP expertise. This study aims to assess the needs of healthcare providers (HCPs) when providing care to patients with FOP. Knowledge, confidence, and management practices were measured through a short awareness survey, completed by 400 HCPs from different specialties who may encounter patients with FOP. Complementary qualitative data were obtained from a dialogue session about FOP. Quantitative data was analyzed using descriptive and inferential analysis, while qualitative data underwent thematic …

Pre-Operative Antiplatelet Therapy Is Associated With Increased Risk Of Periprosthetic Joint Infection Following Total Shoulder Arthroplasty, Muhammad Hamza Ilyas, Mohammad Daher, Viraj Deshpande, Adam Lindsay, Joseph A. Abboud, Hafiz F. Kassam

Rothman Institute Papers

Background Antiplatelet therapy is widely prescribed for the prevention and management of cardiovascular disease and for mitigation of thromboembolic risk. However, its impact on post-operative periprosthetic joint infection (PJI) following total shoulder arthroplasty (TSA) remains poorly defined.MethodsA retrospective cohort study was conducted using the TriNetX US Research Network. Propensity score matching was performed to balance demographics, body mass index, and Charlson Comorbidity Index variables. The primary outcome was the incidence of PJI at 90 days, 6 months, and 1 year. Secondary outcomes included post-operative medical and surgical complications. Comparative risk was quantified using risk ratios with 95% confidence intervals. Subgroup …

Atrial Fibrillation In Athletes: Mechanisms, Management, And Future Directions, Ibrahim Alameh, Ghina Al Fout, Michael D. Ezekowitz, Mohammed Kamareddine

Department of Medicine Faculty Papers

BACKGROUND: High-volume endurance training may shift exercise from cardioprotective to arrhythmogenic, increasing the risk of atrial fibrillation (AF) in healthy athletes.

CASE SUMMARY: A 38-year-old marathon runner with a 15-year history of high-intensity endurance training presented with episodic palpitations and reduced athletic performance. Electrocardiogram showed paroxysmal AF; echocardiography revealed mild left atrial enlargement without structural heart disease. Symptoms worsened during the recovery phase after runs, suggesting vagally mediated AF. After unsuccessful flecainide therapy, he underwent pulmonary vein isolation. Twelve months later, he remained free of recurrent AF on Holter monitoring and successfully resumed endurance training following an 8-week recovery period. …

Transcranial Alternating Current Stimulation As An Adjuvant For Nonfluent Aphasia: A Proof-Of-Concept Study, Lynsey M. Keator, Lisa Johnson, Roger Newman-Norlund, Kyler Spell, Samaneh Nemati, Leigh Ann Spell, Dirk B. Den Ouden, Christopher Rorden, Julius Fridriksson

Department of Speech-Language Pathology Faculty Papers

Effective rehabilitation tools are essential for improving language outcomes in chronic aphasia. Speech entrainment is a behavioral treatment that has shown promise in enhancing speech output in nonfluent aphasia, potentially by acting as an external mechanism to synchronize anterior and posterior language regions in the left hemisphere. Transcranial alternating current stimulation has been hypothesized to enhance functional connectivity between brain regions by amplifying endogenous oscillations. This proof-of-concept study explored whether high-definition tACS (HD-tACS) could improve speech fluency in nonfluent aphasia when paired with speech entrainment. In a double-blind, pseudorandomized study, 1 mA of HD-tACS at 7 Hz was applied to …

Pre-Operative Methicillin-Resistant Staphylococcus Aureus Colonization Increases The Risk Of 90-Day Medical And 2-Year Implant-Related Complications Following Primary Total Shoulder Arthroplasty: A Propensity-Matched Analysis, Muhammad Hamza Ilyas, Tarishi Parmar, Zina Smadi, Viraj A. Deshpande, Akin A. Adio, Joseph A. Abboud, Hafiz F. Kassam

Rothman Institute Papers

BACKGROUND: Pre-operative methicillin-resistant Staphylococcus aureus (MRSA) colonization has been associated with increased risk of post-operative infection and medical complications in lower-extremity arthroplasty; however, its impact on outcomes following total shoulder arthroplasty (TSA) remains poorly understood. This study aims to evaluate the association between MRSA colonization and early medical as well as mid-term implant-related complications after primary TSA.

METHODS: The TriNetX US Research Network was queried to identify primary TSA patients. Propensity score matching (1:1) was performed using demographic characteristics and relevant comorbidities. Ninety-day medical complications, including readmission, emergency department utilization, venous thromboembolism, pneumonia, urinary tract infection, stroke, sepsis, respiratory failure, …

Transcatheter Aortic Valve Replacement In Systemic Sclerosis: A Case Series And Review Of Short- And Long-Term Outcomes, Chris T. Derk, Ahmadreza Badali, Esra Mehmetoglu, Anvitha Mummadisetty, Amit Syal, Konstantinos Parperis

Student Papers, Posters & Projects

Objectives: A higher frequency of valvular heart disease is seen among Systemic Sclerosis (SSc) patients. Advanced aortic valve stenosis leads to significant morbidity in these patients with multiple other comorbidities. In this study, we aim to define the short- and long-term outcomes of transcatheter aortic valve replacement (TAVR) procedures in SSc patients. Methods: We undertook a retrospective chart review of all patients with SSc who underwent a TAVR procedure at our institution over a defined 11-year period. Demographics as well as short- and long-term outcomes were identified. Results: Fourteen SSc patients underwent a TAVR procedure between 2012 and 2023. They …

Age And Sex Impact The Role Of Thrombospondin-2 And Thrombospondin-5 In Response To Hindlimb Ischemia, Irene Helenowski, Ashley Peters, Melissa Rangel, Corinne Bunn Md, Xuerong Wang, Kristopher Maier, Vivian Gahtan

Biostatistics Collaborative Core: Faculty Publications and Other Works

Peripheral arterial disease progression to critical limb ischemia remains a significant burden in the aged, necessitating revascularization. Therapies to enhance neovascularization, such as angiogenesis or arteriogenesis, may provide an option for patients not suitable for surgery. The thrombospondins (TSPs) are secreted matricellular glycoproteins, with TSP-1, TSP-2, and TSP-5 implicated in neovascularization. Currently, there is little data regarding the effects of TSP-2, TSP-5, sex, and aging on angiogenesis and arteriogenesis. In vitro, the effect of TSP-2 or TSP-5 on early or late passage endothelial cell (EC) tubule formation or disruption was assessed. In vivo, angiogenesis, and arteriogenesis in male and female, …

Recurrent Miller Fisher Syndrome: A Case Report, Larry Vernier, Griffin B. Gilmore, Kelsey Van Housen, Xiao C. Zhang

Department of Emergency Medicine Faculty Papers

INTRODUCTION: Guillain-Barré syndrome can manifest with progressive paralysis, requiring careful monitoring and treatment with steroids or intravenous (IV) immunoglobin. While this disease can be devastating and require intensive care unit level of care, there are few incidences of relapses.

CASE REPORT: A 67-year-old man with a past medical history of Miller Fisher syndrome variant of Guillain-Barré syndrome, with complete recovery, presented to the emergency department (ED) with ataxia, ophthalmoplegia, dysphonia, and ambulatory dysfunction. The patient noticed his neurologic symptoms after waking up, and he presented to the ED with physical examination positive for difficulty with upward gaze, mild right lower …

Unm Pathology, Pathfinder Winter 2026, Unm Department Of Pathology

Newsletters

No abstract provided.

Microglial Expression Of Serotonin Receptors Reveals Parallel Regulation Of 5-Ht2b And Bdnf In The Rat Hippocampus, Andrei Turkin, Maria Sidorova, Ekaterina Kurilova, Natalia Alenina, Oksana Tuchina, Friederike Klempin

School of Graduate Studies Faculty Publications

Growing evidence suggests that psychiatric disorders are characterized by a prolonged inflammatory state, which may influence the efficacy of compounds targeting serotonin. Serotonin is a key signaling molecule in neuroplasticity of the adult hippocampus and involved in antidepressant action. Recent in vitro studies indicate the neurotransmitter may also facilitate the response to inflammation and potentially modulate microglial function towards neuroprotection. Using Tph2−/− rats depleted of brain serotonin, we examined microglial expression of various serotonin receptors (5-HTRs) in vivo in both the hippocampus and prefrontal cortex and assessed mRNA levels of cytokines and brain-derived neurotrophic factor (BDNF). We observed age-dependent and …

Metabolic Syndrome As A Risk Factor For Postoperative Complication In Patients Undergoing Spine Surgery: A Systematic Review And Meta-Analysis Of More Than 3 Million Cases, Amir-Mohammad Asgari, Farhad Shaker, Mohammad Taha Pahlevan Fallahy, Sourena Sharifkashani, Alireza Soltani Khaboushan, Dorsa Salabat, César Carballo Cuello, James Harrop, Puya Alikhani

Department of Neurosurgery Faculty Papers

OBJECTIVE: Including conditions like obesity, diabetes, hypertension, and dyslipidemia, metabolic syndrome disrupts metabolic homeostasis and impairs recovery, increasing the risk of surgical complications. This study evaluates the impact of metabolic syndrome on spine surgery outcomes, addressing inconsistencies in the existing literature.

METHODS: Four databases were searched until December 2024 for studies comparing the postoperative complication rates of spine surgeries between patients with and without metabolic syndrome. Following deduplication, 2 authors independently reviewed the studies. For each included study, demographics and incidence rates of postoperative complications were extracted separately by 2 authors. Data analysis was performed using R.

RESULTS: After deduplication, …

Postoperative Anaemia: The Unseen Challenge In Cardiac Surgery, Matthew A. Warner, Jacob Raphael

Department of Anesthesiology Faculty Papers

Postoperative anaemia is an overlooked complication of cardiac surgery that is associated with adverse clinical outcomes. Although small clinical trials suggest that postoperative treatment with i.v. iron improves haemoglobin recovery and reduces transfusion utilisation, appropriately powered randomised controlled trials are necessary to definitively evaluate the efficacy of treatment on clinical outcomes of importance to patients, clinicians, and healthcare systems. A comprehensive approach to perioperative anaemia management demands a renewed focus on both prevention and treatment to improve patient outcomes.

Vasoactive Drug Use In Children With Community Acquired Septic Shock In Australia And New Zealand, Elliot Long, Stephen Hearps, Amanda Williams, Ben Gelbart, Warwick Butt, Thomas Rozen, Sarah Mcnab, Meredith Borland, Simon Erickson, Shefali Jani, Marino Festa, Eunicia Tan, Natalie Phillips, Sainath Raman, Amit Kochar, Subodh Ganu, Simon Craig, Anna Lithgow, Arjun Rao, Emma Whyte, Stuart Dalziel, Shane George, Fran Balamuth, Scott Weiss, Nathan Kuppermann, Franz Babl

Department of Medicine Faculty Papers

BACKGROUND: Vasoactive agents are a critical supportive therapy for children with sepsis. We describe the choice and use patterns of vasoactive agents in children with sepsis.

METHODS: Prospective observational study conducted in 11 hospitals in Australia and New Zealand through the Paediatric Research in Emergency Departments International Collaborative (PREDICT) Network from April 2021 to December 2023. Children aged 0-< 18 years with suspected sepsis were included. Children admitted to hospital and treated with parenteral antibiotics and either 1) a provisional diagnosis of sepsis, and/or 2) treatment for suspected sepsis (fluid bolus to treat poor perfusion). The frequency and sequence of use of vasoactive agents, and contributors to the choice of initial vasoactive were collected.

FINDINGS: 6232 children with suspected sepsis were included; median age of 2.1 years (IQR 0.3-7.1 years), in-hospital mortality of 60 (1.0%), in whom a subset of 306 (4.9%) met Phoenix sepsis criteria. Vasoactive agents were used in 179 (2.9%) children overall …

Dermal Lymphatic Carcinomatosis As A Cutaneous Metastasis From Epidermal Growth Factor Receptor-Positive Lung Adenocarcinoma: A Case Report, Sarah A. Hemelt, Jonathan M. Joseph, Nicholas Culotta

School of Medicine Faculty Publications

Cutaneous metastases are an uncommon but clinically significant manifestation of internal malignancies. We present a rare case of dermal lymphatic carcinomatosis arising from epidermal growth factor receptor (EGFR)-positive lung adenocarcinoma, a presentation that may closely mimic inflammatory dermatoses and indicate therapeutic resistance or disease progression. We describe the clinical course of a 65-year-old woman who developed a violaceous cutaneous metastatic lesion beneath the left breast during treatment for metastatic lung adenocarcinoma. This case highlights the importance of recognizing cutaneous signs as indicators of disease progression and emphasizes the diagnostic challenges and prognostic implications of cutaneous metastases in lung cancer.

Presentation, Diagnosis, And Acute Treatment Of Secondary Hemophagocytic Lymphohistiocytosis: A Case Report, Alexandra Bartholomew, Michael Connick, Catherine Loehr, Shane Sanne

School of Medicine Faculty Publications

Secondary hemophagocytic lymphohistiocytosis (HLH) is a rare, immunologically driven disorder with a high mortality rate. It is typically diagnosed on the basis of clinical and laboratory criteria. We present the case of a 53-year-old woman with multiple previous hospitalizations for fever of unknown origin and fatigue. Her workup ultimately led to a diagnosis of HLH. We discuss the presentation, diagnostic criteria, and clinical treatment of secondary HLH to guide workup and management for future patients affected by this rare disease.

The Right Kind Of Rarefaction: Coronary Microvascular Remodeling In Right Ventricle Failure, Cyrus Vahdatpour, Katharine Clapham, Steven M. Kawut, Kirk Jones, John J. Ryan, Danielle Petty, Shannon Talbot, Kimberly Dumoff, Ellen C. Keeley, Priti Lal, Andrew J. Bryant, Alex M. Parker, Jeremy A. Mazurek, Leonid Mirson, Andrew Murphy, Andrew Baird, Megan Schwietert, Alissa F. Schurr, Andrew Stein, Scott M. Hansen, Zhining Ou, Angela P. Presson, Dylan Miller

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

BACKGROUND: Right ventricular failure (RVF) is the primary determinant of outcomes in pulmonary hypertension (PH). Coronary microvascular dysfunction (CMD), defined by capillary rarefaction and endothelial dysfunction, may contribute to RVF but remains poorly characterized. CMD, defined by capillary rarefaction and endothelial dysfunction, may contribute to RVF through impaired myocardial oxygen delivery and fibrotic remodeling.

OBJECTIVES: To characterize right ventricle (RV) CMD and myocardial fibrosis in explanted human hearts and examine associations with echocardiographic and hemodynamic indices of RVF across PH subtypes.

METHODS: We retrospectively analyzed 57 adult patients who underwent orthotopic heart transplantation at 3 institutions (2023-2024). Explanted hearts were …

Dual-Level Pattern Tree For Visual Field Improves Glaucoma Progression And Polygenic Risk Prediction, Luo Song, Lucy Q. Shen, Louis R. Pasquale, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Ayellet Segre, Janey L. Wiggs, Constance Turman, Jonathan S. Myers, Tobias Elze, Nazlee Zebardast, David S. Friedman, Jae H. Kang, Mengyu Wang

Wills Eye Hospital Papers

PURPOSE: To develop a dual-level pattern tree to characterize visual field (VF) loss subtypes that can be used to better predict glaucoma progression and glaucoma polygenic risk scores (PRSs).

METHODS: This study included 113,030 patients from three datasets, each used for a specific purpose: (1) model training, (2) progression forecasting, and (3) PRS correlations. We applied archetypal analysis to cluster 24-2 VFs into trunk patterns and their branch patterns. The Cox regression model was used to forecast VF progression using mean deviation (MD) slope, MD-fast slope, total deviation (TD) pointwise slope, and visual field index (VFI) slope. Multivariable regression analyses …

Single-Cell Transcriptomic Analysis Of Peripheral Blood Mononuclear Cells Reveals Key Immune Responses In St-Segment Elevation Myocardial Infarction, Zheng Zhang, Shengfang Wang, Yahui Liu, Gaohan Li, Qianqian Cheng, Wei Yang, Gan-Xin Yan, Chuanyu Gao

Department of Medicine Faculty Papers

BACKGROUND: Inflammation plays a crucial role in the pathogenesis of ST-segment elevation myocardial infarction (STEMI). However, the precise immunological mechanisms remain incompletely understood. Single-cell RNA sequencing (scRNA-seq) provides a powerful approach to dissect immune cell heterogeneity and dynamic changes at single-cell resolution.

METHODS: Peripheral blood mononuclear cells (PBMCs) were collected from 7 STEMI patients (within 6h after primary percutaneous coronary intervention) and 3 healthy controls. Single-cell suspensions were prepared and subjected to scRNA-seq using the 10x Genomics Chromium platform and Illumina NovaSeq 6000. Data were processed using Cell Ranger and analyzed with Seurat for quality control, clustering, and annotation. Differentially …

Bilateral Endogenous Fungal Endophthalmitis Following Elective Surgical Abortion: A Single Center Case Series, Viet Q. Chau, Jesse D. Sengillo, Flavius A. Beca, Julia L. Hudson, Thomas A. Albini, Harry W. Flynn

Wills Eye Hospital Papers

BACKGROUND: To describe the clinical features and management of three cases of bilateral endogenous fungal endophthalmitis following elective surgical abortion performed at the same outpatient surgical center.

METHODS: Case series.

OBSERVATIONS: Three immunocompetent women presented with vision loss days to weeks following elective surgical abortions performed at a single outpatient clinic. Initial visual acuities ranged from 20/20 to 20/300. Fundoscopic examination revealed multiple white round chorioretinal lesions with vitreous infiltration bilaterally in all three patients. Vitreous tap samples were obtained for culture and broad-spectrum intravitreal antimicrobials were administered. Despite negative cultures and systemic workup, the clinical presentation was consistent with …

Factfinders For Patient Safety: Minimizing Complications In Radiofrequency Neurotomy: Part I-Implantable Devices; Part Ii-Preprocedural Bvnrfn Imaging, David Hao, Gerald Yeung, Haewon Lee, Zheyan Chen, Ben Laplante, Paul Kitei, Reza Ehsanian, David Levi

Moss-Magee Rehabilitation Papers

This series of FactFinders presents a brief summary of the evidence and outlines recommendations regarding minimizing risks with radiofrequency neurotomy procedures. The evidence in support of the following facts is presented: (1) While data on the safety of radiofrequency neurotomy in patients with implanted devices are limited, the procedure can likely be performed safely with careful adherence to best practices and manufacturer recommendations. (2) Basivertebral nerve radiofrequency neurotomy can be performed safely and effectively at the L3 through S1 vertebral levels. Scrutiny of preprocedural imaging may minimize risk. Although the transpedicular approach is preferred, patient anatomy may dictate a non-transpedicular …

Liver-Directed Base Editing Of Abcc6 Prevents Ectopic Calcification In A Variant-Humanized Mouse Model Of Pseudoxanthoma Elasticum, Lauren C. Testa, Dora Obiri-Yeboah, Hooda Said, Ping Qu, Michael A. Levine, Mohamad-Gabriel Alameh, Kiran Musunuru, Qiaoli Li, Xiao Wang

Department of Biochemistry and Molecular Biology Faculty Papers

Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder characterized by ectopic calcification of elastic fibers throughout the skin, retina, and arteries. It is caused by pathogenic variants in ABCC6 , which encodes a transmembrane transporter that primarily localizes to hepatocytes. Loss of ABCC6 function in hepatocytes leads to systemic deficiency of inorganic pyrophosphate (PPi), a potent inhibitor of calcification; such depletion of PPi from the circulation is responsible for multisystemic ectopic calcification seen in PXE. Therefore, liver-targeted variant correction by genome editing and subsequent restoration of systemic PPi may offer a one-and-done therapeutic approach for PXE. The ABCC6 …

Hypertensive Remodelling: When Bigger Body Means Bigger Problems, Eric Lazartigues

School of Medicine Faculty Publications

No abstract provided.

Estrogen And Obesity Synergistically Suppress Protein S Via Hif1Α, Enhancing Thrombosis Potential, Mohammad A. Mohammad, Narender Kumar, Sonali Ghosh, Ashley L. Paysse, Claudia Leonardi, Vijaya Pilli, Ma Lorena Duhaylungsod, Eric Lazartigues, Diana Polania-Villanueva, Sadaf Nouman, Logan A. Barrios, Rima Chattopadhyay, Rafika Yasmin, Alaina Guilbeau, Manoj Kumar, Tina H. Nguyen, Jovanny Zabaleta, Li Li, Luis Del Valle M.D., Mallory T. Barbier, Samarpan Majumder, Laurent O. Mosnier, Samarpan Majumder

School of Graduate Studies Faculty Publications

Venous thromboembolism (VTE) is a leading cause of morbidity and mortality, with risk heightened in premenopausal women with obesity or use estrogen-based oral contraceptives. When both risk factors are present, the thrombosis risk increases substantially. Protein S (PS), an essential anticoagulant cofactor, is downregulated by both estrogen and obesity, but the molecular basis for this suppression remains poorly defined. We investigated the effect of estrogen and obesity on PS expression using plasma samples from 157 women stratified by BMI and contraceptive use, alongside 40 mice categorized as lean or obese with or without estrogen pellet treatment. The levels of PS …

Promising Effects Of Car T-Cell Therapy In Refractory Stiff Person Syndrome And A Hopeful Future For All Neuroautoimmunities, Marinos Dalakas

Department of Neurology Faculty Papers

Chimeric antigen receptor (CAR) T cells are genetically modified T cells expressing CARs, initially developed to recognize tumor antigens and kill cancer cells that evade T-cell recognition. Because of their impressive success in hemato-oncologic malignancies, CAR T cells are being repurposed with redesigned constructs for safety and sustained efficacy to target refractory systemic autoimmune or neurologic diseases. The CD19 CAR T cells-targeting those CD19-positive, antibody-secreting, long-lived plasma cells, and plasmablasts-are now extensively explored in refractory neuroautoimmunities with promising benefits based on case series in patients with myasthenia gravis (MG), stiff person syndrome (SPS), neuromyelitis, myositis, and multiple sclerosis; some patients …