Medical Specialties Commons^™

Measles, Mumps, Rubella Immunization And The Resurgence Of Measles In America, Peter J Hotez

Faculty, Staff and Students Publications

No abstract provided.

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 …

Aged Regulatory T Cells Fail To Control Autoimmune Lacrimal Gland Pathogenic Cd4+ T Cells, Kaitlin K Scholand, Laura Schaefer, Gowthaman Govindarajan, Zhiyuan Yu, Jeremias G Galletti, Cintia S De Paiva

Faculty, Staff and Students Publications

CD25KO mice are a model of Sjögren disease. CD25KO mice have severe inflammation and infiltrating lymphocytes to the lacrimal glands (LG). Whether the pathogenicity of CD25KO CD4+ T cells can be controlled in vivo by Tregs is unknown. Eight-week-old B6 and CD25KO mice LGs were submitted for RNA bulk sequencing. A total of 3481 genes were differentially expressed in CD25KO LG compared to B6. Tear washing analysis identified CD25KO mice had elevated protein levels of TNF, IFN-γ, and CCL5 and decreased protein levels of IL-12p40 and VEGF-A. Co-adoptive transfer of CD25KO CD4+ T cells with either young or aged B6 …

The Aging Ovary Stands On The Shoulders Of Giant Multinucleated Cells, Avery A Ahmed, Stephanie A Pangas

Faculty, Staff and Students Publications

Reproductive aging is associated with declining fertility and increasing inflammation, though these events are not well understood. An exciting new study in PLOS Biology utilizes cutting-edge technologies to characterize the role of multinucleated giant cells in ovarian aging.

Dietary Interventions To Support And Improve Sleep Disturbances And Insomnia Disorder In Menopause: From Bench To Bedside, Rosie H Musgrave, Sara Nowakowski, Tamlyn J Watermeyer, Emily J Arentson-Lantz, Greg J Elder

Faculty, Staff and Students Publications

Sleep is essential for maintaining physical and psychological health, and also cognitive health (referred to as 'brain health'). However, the transition to menopause has a direct impact upon sleep. Sleep disturbances are reported by approximately 40%-60% of menopausal women, and insomnia disorder is also prevalent. Diet-based interventions could potentially be used to improve subjective sleep quality in this population, and although there are several promising interventions which have been used in other groups that could be trialled, the evidence base is currently lacking. One particularly promising area for future research is that these interventions might be used alongside, or instead …

Core Domain Set For Chronic And/Or Recurrent Manifestations Of Calcium Pyrophosphate Deposition Disease: Omeract Delphi Survey To Establish Consensus, Yiling Zhang, Sara K Tedeschi, Abhishek Abhishek, Owen Hensey, David Grossberg, Ken Cai, Beverley Shea, Jasvinder A Singh, Robin Christensen, Teodora Serban, Edoardo Cipolletta, Konstantinos Parperis, Cesar Diaz-Torne, Geraldine M Mccarthy, Fabio Becce, Tamer A Gheita, Silvia Sirotti, Sara Nysom Christiansen, Luis Coronel, Lisa K Stamp, Yousra H Abdel-Fattah, Tristan Pascart, Georgios Filippou, Lih En Hong, John Fitzgerald, Nicola Dalbeth

Faculty, Staff and Students Publications

Objective: To agree on important domains for the Outcome Measures in Rheumatology (OMERACT) core domain set for chronic and/or recurrent manifestations of calcium pyrophosphate deposition (CPPD) disease.

Methods: Patient research partners (PRPs) and other participants (mainly clinicians and researchers) contributed to three rounds of a consensus survey using Delphi methodology. Consensus was defined if ≥70% of both patients and other participants scored the domain as 'critically important domain to include'. In a subsequent ranking exercise, all participants were asked to select and rank up to 10 of the domains reaching consensus.

Results: Fifteen domains reached consensus as critically important. Within …

Managing Hypercholesterolemia In Adults Older Than 75 Years Without A History Of Atherosclerotic Cardiovascular Disease: An Expert Clinical Consensus From The National Lipid Association And The American Geriatrics Society, Vera Bittner, Sunny A Linnebur, Dave L Dixon, Daniel E Forman, Ariel R Green, Terry A Jacobson, Ariela R Orkaby, Joseph J Saseen, Salim S Virani

Faculty, Staff and Students Publications

The risk of atherosclerotic cardiovascular disease increases with advancing age. Elevated LDL-cholesterol and non-HDL-cholesterol levels remain predictive of incident atherosclerotic cardiovascular events among individuals older than 75 years. Risk prediction among older individuals is less certain because most current risk calculators lack specificity in those older than 75 years and do not adjust for co-morbidities, functional status, frailty, and cognition which significantly impact prognosis in this age group. Data on the benefits and risks of lowering LDL-cholesterol with statins in older patients without atherosclerotic cardiovascular disease are also limited since most primary prevention trials have included mostly younger patients. Available …

Worldwide Prevalence Of Chagas Cardiomyopathy-An Analysis From The Global Burden Of Disease Dataset, Abdul Mannan Khan Minhas, Rachel Marcus, Salim S Virani, Michael D Shapiro, Robert J Mentz, Luis E Echeverria, Jonathan T Arcobello, Dmitry Abramov

Faculty, Staff and Students Publications

Purpose: The worldwide prevalence of Chagas Cardiomyopathy (CCM) as well as the trends in the prevalence of CCM over time have not been well characterized.

Methods: An analysis of the Global Burden of Disease (GBD) data from 1990 to 2019 was conducted to assess the burden of CCM. This study focused on determining the prevalence of CCM, along with its age-standardized prevalence rate (ASR) per 1,00,000 people, considering various patient demographics and geographical regions as defined in the GBD. Additionally, the study examined the temporal trends over this 30-year period by calculating the estimated annual percentage change (EAPC) in CCM …

Fine-Scale Population Structure Of Japanese Helicobacter Pylori Provides New Anthropological And Epidemiological Insights, Kohei Tomonari, Batsaikhan Saruuljavkhlan, Ricky Indra Alfaray, Kartika Afrida Fauzia, Osamu Matsunari, Daisuke Chinda, Tadashi Shimoyama, Phawinee Subsomwong, Nagisa Kinjo, Tetsu Kinjo, Yasuo Hanamure, Masato Shinzato, Rumiko Suzuki, Fukunori Kinjo, Shigeru Takigami, Toshio Fujioka, Takeshi Matsuhisa, Junko Akada, Takashi Matsumoto, Yoshio Yamaoka

Faculty, Staff and Students Publications

Helicobacter pylori is considered to contribute to gastric cancer and is also used as a marker to trace human migration due to its co-evolution with humans. To understand the recently proposed tripartite model suggesting three ancestral origins for the Japanese population and address the enigma of the high incidence of gastric cancer in Northeast Hondo (Hondo is mainland Japan), we conducted a fine-scale population structure analysis using a large Japanese H. pylori dataset, including 438 strains from 9 regions based on whole-genome sequences. As a result of fineSTRUCTURE analysis, it was found that H. pylori in Northeast Hondo is genetically …

Eye Catching, Alec B Rezigh, Anand D Jagannath, Austin C Rezigh, Ann Marie Kumfer, Stephanie V Sherman

Faculty, Staff and Students Publications

A 55 year-old man with type 2 diabetes mellitus presented to the emergency department with subacute nausea, vomiting, and abdominal pain. He was found to have epididymitis and hyperglycemia that improved with antibiotics and supportive care. However, he was also discovered to have significant acute kidney injury and chronic, relapsing-remitting bouts of eye pain and redness, confirmed to be uveitis on ophthalmologic evaluation. Despite completing an appropriate course of antibiotics, his pyuria and kidney injury persisted. An extensive infectious, autoimmune, and malignancy work-up was negative. As such, renal biopsy was pursued and revealed findings consistent with tubulointerstitial nephritis. With a …

Epidemiology Of Intestinal Parasite Infections And Multiparasitism And Their Impact On Growth And Hemoglobin Levels During Childhood In Tropical Ecuador: A Longitudinal Study Using Molecular Detection Methods, Rojelio Mejia, Irina Chis Ster, Martha E Chico, Irene Guadalupe, Andrea Arévalo-Cortés, Andrea Lopez, Aida Y Oviedo-Vera, Philip J Cooper

Faculty, Staff and Students Publications

Background: There are few longitudinal epidemiological studies of intestinal parasitic infections (IPI) and their health effects. We studied the epidemiology and determinants of IPI and multiparasitism during childhood using molecular methods for parasite detection and analysed their effects on growth and hemoglobin levels.

Methods: Random sample of 401 children from an Ecuadorian birth cohort followed up to 8 years of age. Data on environmental and sociodemographic characteristics were collected by questionnaires. Stool samples were collected, and weight, height, and hemoglobin levels were measured at 7 and 13 months, and 2, 3, 5, and 8 years. Stool samples were analysed using …

Corrigendum To "Effects Of Dialysate Potassium Concentration Of 30 Mmol/L With Sodium Zirconium Cyclosilicate On Dialysis-Free Days Versus Dialysate Potassium Concentration Of 20 Mmol/L Alone On Rates Of Cardiac Arrhythmias In Hemodialysis Patients With Hyperkalemia" Kidney International 2025;107:169-179, David M Charytan, Wolfgang C Winkelmayer, Christopher B Granger, John P Middleton, Charles A Herzog, Glenn M Chertow, James M Eudicone, Jeremy D Whitson, James A Tumlin, Adapt Investigators

Faculty, Staff and Students Publications

No abstract provided.

Protein Biomarkers Of Interstitial Lung Abnormalities In Relatives Of Patients With Pulmonary Fibrosis, Jonathan A Rose, Mark P Steele, Esteban J Kosak Lopez, Gisli Thor Axelsson, Andrea G Galecio Chao, Alan Waich, Katie Regan, Swati Gulati, Anthony H Maeda, Sharmin Sultana, Claire Cutting, Ann-Marcia C Tukpah, Andrew J Synn, Mary B Rice, Hilary J Goldberg, Joyce S Lee, David A Lynch, Rachel K Putman, Hiroto Hatabu, Benjamin A Raby, David A Schwartz, Ivan O Rosas, Gary M Hunninghake

Faculty, Staff and Students Publications

Rationale: First-degree relatives of patients with pulmonary fibrosis (referred to here as relatives) are at high risk for interstitial lung abnormalities (ILA), highlighting the need for biomarkers for risk prediction. We aimed to identify blood proteins associated with and predictive of ILA among relatives of patients with pulmonary fibrosis.

Methods: Relatives enrolled in two independent cohorts had protein levels measured using an aptamer-based proteomic platform. ILA were assessed with computed tomography scans as per Fleischner Society recommendations. Protein associations with ILA were assessed using regression. Significant proteins were used with clinical variables to detect ILA.

Results: Of 237 relatives from …

Airway Immune Signatures In Severe And Fatal Infection With Covid-19, Naresh Doni Jayavelu, Jing Jing Qi, Slim Fourati, Farrah Kheradmand, Charles R Langelier, Lauren I R Ehrlich, Joann Diray-Arce, Annmarie Hoch, Monica Kraft, Patrice M Becker, Matthew C Altman, Ruth R Montgomery

Faculty, Staff and Students Publications

No abstract provided.

Norovirus Replication, Host Interactions And Vaccine Advances, B V Venkataram Prasad, Robert L Atmar, Sasirekha Ramani, Timothy Palzkill, Yongcheng Song, Sue E Crawford, Mary K Estes

Faculty, Staff and Students Publications

Human noroviruses (HuNoVs) are the leading cause of acute gastroenteritis worldwide in all age groups and cause significant disease and economic burden globally. To date, no approved vaccines or antiviral therapies are available to treat or prevent HuNoV illness. Several candidate vaccines are in clinical trials, although potential barriers to successful development must be overcome. Recently, significant advances have been made in understanding HuNoV biology owing to breakthroughs in virus cultivation using human intestinal tissue-derived organoid (or enteroid) cultures, advances in structural biology technology combined with epitope mapping and increased metagenomic sequencing. New and unexpected strain-specific differences in pandemic versus …

The Efficacy Of Complementary And Alternative Medicines Utilized In Cosmetic And Surgical Dermatology: A Comprehensive Review, Promise Ufomadu, Bartley Joseph Gill, Theodore Rosen, Ikue Shmizu, Ida Orengo

Faculty, Staff and Students Publications

Background: Lately, there has been a growing demand for the utilization of complementary and alternative medicines (CAMs) with dermatological applications. This is true despite limited RCT-level studies on such agents. This presents a barrier for dermatologists and fellow clinicians in counseling patients who may be using or are tempted to use these CAM modalities. This review highlights CAM agents used by patients for applications in cosmetic and surgical dermatology, exploring their efficacy and toxicity profiles.

Methods: A comprehensive review was conducted on the effectiveness of several CAMs utilized in cosmetic and surgical dermatology by patients. A literature search was performed …

Temporal Changes In Risk Factors Of Hepatocellular Carcinoma In A Prospective Cirrhosis Cohort, George Cholankeril, Aaron P Thrift, Saira Khaderi, Fasiha Kanwal, Hashem B El-Serag, Thccc Working Group, Hao Duong, Amit G Singal, Sumeet K Asrani, Themistoklis Kourkompetis, Asif Zamir, Jorge A Marrero, Ruben Hernaez, Michelle Luster, Abeer Al-Sarraj, Emad Salem

Faculty, Staff and Students Publications

No abstract provided.

Dermatologic Fungal Neglected Tropical Diseases-Part I Epidemiology And Clinical Features, Kaya L Curtis, Jeremy A W Gold, Jana M Ritter, Theodore Rosen, Daniel Wagner C L Santos, Dallas J Smith, Shari R Lipner

Faculty, Staff and Students Publications

In this part 1 of a 2-part continuing medical education series, the epidemiology, clinical features, and diagnostic methods for fungal skin neglected tropical diseases (NTDs), which include eumycetoma, chromoblastomycosis, paracoccidioidomycosis, sporotrichosis, emergomycosis, talaromycosis, and lobomycosis, are reviewed. These infections, several of which are officially designated as NTDs by the World Health Organization, cause substantial morbidity and stigma worldwide and are receiving increased attention due to the potential for climate change-related geographic expansion. Domestic incidence may be increasing in the setting of global travel and immunosuppression. United States dermatologists may play a central role in early detection and initiation of appropriate …

Recognition And Management Of Persistent Chylomicronemia: A Joint Expert Clinical Consensus By The National Lipid Association And The American Society For Preventive Cardiology, Seyedmohammad Saadatagah, Miriam Larouche, Mohammadreza Naderian, Vijay Nambi, Diane Brisson, Iftikhar J Kullo, P Barton Duell, Erin D Michos, Michael D Shapiro, Gerald F Watts, Daniel Gaudet, Christie M Ballantyne

Faculty, Staff and Students Publications

Extreme hypertriglyceridemia, defined as triglyceride (TG) levels ≥1000 mg/dL, is almost always indicative of chylomicronemia. The current diagnostic approach categorizes individuals with chylomicronemia into familial chylomicronemia syndrome (FCS; prevalence 1-10 per million), caused by the biallelic combination of pathogenic variants that impair the lipolytic action of lipoprotein lipase (LPL), or multifactorial chylomicronemia syndrome (MCS, 1 in 500). A pragmatic framework should emphasize the severity of the phenotype and the risk of complications. Therefore, we endorse the term "persistent chylomicronemia" defined as TG ≥1000 mg/dL in more than half of the measurements to encompass patients with the highest risk for pancreatitis, …

Parp Inhibitor Response Is Enhanced In Prostate Cancer When Xrcc1 Expression Is Reduced, Kaveri Goel, Vani Venkatappa, Kimiko L Krieger, Dongquan Chen, Arun Sreekumar, Natalie R Gassman

Faculty, Staff and Students Publications

Prostate cancer (PCa) is the second most common cancer worldwide and the fifth leading cause of cancer-related deaths among men. The emergence of metastatic castration-resistant prostate cancer (mCRPC) after androgen deprivation therapy (ADT) exemplifies the complex disease management for PCa. PARP inhibitors (PARPis) are being tested to treat mCRPC in tumors with defective homologous recombination repair (HRR) to address this complexity. However, increasing resistance towards PARPi in HRR-deficient patients and the low percentage of HRR-defective mCRPC patients requires the identification of new genes whose deficiency can be exploited for PARPi treatment. XRCC1 is a DNA repair protein critical in the …

Assessment Of Frailty In Patients With Heart Failure: A New Heart Failure Frailty Score Developed By Delphi Consensus, Cristiana Vitale, Emmanuelle Berthelot, Andrew J S Coats, Hill Loreena, Nancy M Albert, Michal Tkaczyszyn, Stamatis Adamopoulos, Lisa Anderson, Markus S Anker, Stefan D Anker, Derek Bell, Tuvia Ben-Gal, Vasiliki Bistola, Biykem Bozkurt, Poppy Brooks, Miguel Camafort, Juan Jesus Carrero, Ovidiu Chioncel, Dong-Ju Choi, Wook-Jin Chung, Wolfram Doehner, Daniel Fernández-Bergés, Roberto Ferrari, Mona Fiuzat, Juan Esteban Gomez-Mesa, Finn Gustafsson, Ewa Jankowska, Seok-Min Kang, Koichiro Kinugawa, Kamlesh Khunti, F D Richard Hobbs, Christopher Lee, Yuri Lopatin, Matthew Maddocks, Giuseppe Maltese, Elena Marques-Sule, Yuya Matsue, Òscar Miró, Brenda Moura, Massimo Piepoli, Piotr Ponikowski, Giovanni Pulignano, Amina Rakisheva, Robin Ray, Angela Sciacqua, Petar Seferovic, Trinidad Sentandreu-Mañó, Shirley Sze, Alan Sinclair, Anna Strömberg, Olga Theou, Hiroyuki Tsutsui, Izabella Uchmanowicz, Maria Teresa Vidan, Maurizio Volterrani, Stephan Von Haehling, Byungsu Yoo, Jian Zhang, Yuhui Zhang, Marco Metra, Giuseppe Massimo Claudio Rosano

Faculty, Staff and Students Publications

Aims: The Heart Failure Frailty Score (HFFS) is a novel, multidimensional tool to assess frailty in patients with heart failure (HF). It has been developed to overcome limitations of existing frailty assessment tools while being practical for clinical use. The HFFS reflects the concept of frailty as a multidimensional, dynamic and potentially reversible state, which increases vulnerability to stressors and risk of poor outcomes in patients with HF.

Methods and results: The HFFS was developed through a Delphi consensus process involving 54 international experts. This approach involved iterative rounds of questionnaires and interviews, where a panel of experts provided their …

Coronary Inflammation And Atherosclerosis By Ccta In Young Adults (Aged 18–45), Annalisa Filtz, Daniel Lorenzatti, Henry A Dwaah, Carlos Espiche, Santiago F Galgani, Jake T Gilman, Alexandrina Danilov, Andrea Scotti, Piotr J Slomka, Daniel S Berman, Salim S Virani, Mario J Garcia, Khurram Nasir, Leslee J Shaw, Ron Blankstein, Michael D Shapiro, Damini Dey, Leandro Slipczuk

Faculty, Staff and Students Publications

Background: Peri-coronary adipose tissue attenuation (PCAT), a marker of coronary inflammation, is linked to coronary artery disease (CAD), but data on the role of PCAT in young individuals are limited.

Aims: This study explores the interplay of PCAT and CAD by CCTA, in a symptomatic young cohort.

Methods and results: Patients aged 18-45 years without prior CAD, from Montefiore CCTA registry (2016-2022), were studied retrospectively. Atherosclerosis and PCAT of the left circumflex (LCX), left anterior descending (LAD), and right coronary artery (RCA) were measured. Youden index determined optimal PCAT thresholds for the risk of CAD, defined as presence of any …

Targeting S1pr2 In Sepsis, One Fragmented Mitochondrion At A Time, Chao He, Jennifer L Larson-Casey

Faculty, Staff and Students Publications

No abstract provided.

Stress, Employment Changes, And Psychological Distress Among Caregivers Of Patients With Head And Neck Cancer, Lama Abdurrahman, Vlad C Sandulache, Cielito Reyes-Gibby, Erich M Sturgis, Pavan Jhaveri, Hoda Badr

Faculty, Staff and Students Publications

Importance: Patients undergoing external beam radiation therapy (EBRT) for head and neck cancer (HNC) often experience adverse effects that require substantial caregiving. The burdens of caregiving can impact caregiver employment and mental health over time, yet this topic remains underexplored.

Objective: To examine the associations between caregiving for patients with HNC who undergo EBRT and caregiver stress, employment status, and psychological distress.

Design, setting, and participants: This was a secondary analysis of data from a longitudinal survey study that surveyed caregivers at baseline (ie, at initiation of EBRT) and at 4-month and 12-month follow-ups. The study was conducted at 2 …

Multicenter Evaluation Of A New Strip-Based Blood Glucose System For Point-Of-Care Testing In Critical And Non-Critical Care Settings, Michael Goodman, Sven Bercker, Nancy Breitenbeck, Cristina Canada-Vilalta, Daisy D Canepa, William A Clarke, Christopher W Farnsworth, Edward O Ganser, Nienke Geerts, Barbara Goldsmith, Gary Headden, Debra Hoppensteadt, Birgit Klapperich, Ryan Matika, Gabrielle Miles, Sagori Mukhopadhyay, James H Nichols, Rebecca M O'Dell, Zubaid Rafique, Andre Schuetzenmeister, Robbert Slingerland, Ann F Stankiewicz, Jonathan R Swanson, Nam K Tran, Alan H B Wu, Brad S Karon

Faculty, Staff and Students Publications

Background: Evaluation of the performance of Cobas® Pulse (Roche Diagnostics GmbH, Mannheim, Germany), a new blood glucose (BG) monitoring system (BGMS; referred to here as BGMSA) intended for point-of-care testing using samples from patients in diverse clinical settings by intended point-of-care test operators.

Methods: Arterial, capillary, venous, or heel stick whole blood (WB) samples from patients in non-critical and critical care settings were collected and analyzed using BGMSA and the Nova StatStrip® BGMS (Nova Biomedical, Waltham, MA; referred to here as BGMSB), and a hexokinase comparator (Cobas 6000 Analyzer Series; Roche Diagnostics GmbH). The blood glucose measurement accuracy was assessed …

Secreted Phosphoprotein 1 In Lung Diseases, Hongli Liu, Cristian Coarfa, Arzoo N Charania, Jennifer L Larson-Casey, Ivan O Rosas, Chao He

Faculty, Staff and Students Publications

Secreted phosphoprotein 1 (SPP1), also known as osteopontin (OPN) or early T lymphocyte activation protein 1 (ETA-1), is a multifunctional protein involved in numerous biological processes, including immune modulation, stress response, and tissue remodeling. The role of SPP1 in interstitial lung diseases (ILDs) has become an area of increasing interest, given its elevated expression in various ILDs such as idiopathic pulmonary fibrosis (IPF), connective tissue disease-associated ILD (CTD-ILD), and pneumoconiosis, especially with recent data derived from single-cell RNA sequencing. In addition to ILDs, SPP1 has been implicated in infectious granulomatous lung diseases, lung and pleural malignancies, airway diseases, and COVID-19. …

Biallelic Loss-Of-Function Variant In Minpp1 Causes Pontocerebellar Hypoplasia With Characteristic Severe Neurodevelopmental Disorder, Aljazi Al-Maraghi, Rulan Shaath, Katherine Ford, Waleed Aamer, Jehan Alrayahi, Sura Hussein, Elbay Aliyev, Nourhen Agrebi, Muhammad Kohailan, Satanay Z Hubrack, Sasirekha Palaniswamy, Adam D Kennedy, Karen L Debalsi, Sarah H Elsea, Ruba Benini, Tawfeg Ben-Omran, Bernice Lo, Ammira S A Akil, Khalid A Fakhro

Faculty, Staff and Students Publications

Pontocerebellar hypoplasia (PCH) encompasses a group of autosomal recessive neurodegenerative disorders marked by cerebellar and pontine atrophy. Multiple subtypes of PCH have been identified, among which the rare subtype PCH type 16 is caused by MINPP1 genetic variants. MINPPI encodes an enzyme essential for inositol polyphosphate dephosphorylation, regulating calcium and iron homeostasis. We conducted genome sequencing on a proband from the consanguineous family, who presented with a severe neurodegenerative disorder, to identify the underlying cause of disease. A comprehensive clinical assessment in addition to neuroradiological findings are described. We performed the functional validation of the identified variant and conducted untargeted …

Advanced Age Worsens Phenotypes Of Ocular Hypertension In Mice, Priyamvada M Pitale, Solomon E Gibson, Caroline C Keehn, Arman T Yazdian, Guofu Shen, Benjamin J Frankfort

Faculty, Staff and Students Publications

Glaucoma is a neurodegenerative disorder of the optic nerve and retinal ganglion cells (RGCs) and a major cause of blindness. The two most important risk factors for glaucoma are ocular hypertension (OHT) and advanced age. In this study, we explored the combined impact of aging and OHT on retinal neuronal and microvasculature health. We induced OHT using the bead-injection model in 12 week old (young) and 1.5 year old (old) mice and monitored intraocular pressure (IOP) for 2 weeks. We then explored vascular phenotypes, blood retinal barrier components, RGC counts, and electroretinogram (ERG) changes. Aged mice displayed reduced retinal microvasculature …

Antibiofilm Properties Of 4-Hydroxy-3-Methyl-2-Alkenylquinoline, A Novel Burkholderia-Derived Alkaloid, Mckinley D Williams, Taylor R Sweeney, Sabrina Trieu, Ravi Orugunty, Abdelahhad Barbour, Fereshteh Younesi, Michael Glogauer, Nopakorn Hansanant, Ronald Shin, Shi-En Lu, Kevin Cao, Abraham Tenorio, Sigmund J Haidacher, Anthony M Haag, Thomas D Horvath, Leif Smith

Faculty, Staff and Students Publications

Biofilms are an important colonization mechanism employed by several microbial species to better establish themselves and monopolize the acquisition of resources across different environs. Some bacteria have evolved specialized metabolites that, when secreted, disrupt the formation and stability of biofilms generated by competing heterospecies, providing the producing organism with an ecological advantage. Soil-derived species are probable candidates for the identification of such compounds, given the intense level of competition that occurs within the terrestrial ecosystem. The MS14 strain of Burkholderia contaminans isolated from soil in Mississippi has previously been shown to produce antimicrobial compounds like occidiofungin and ornibactin. In this …

Extracorporeal Membrane Oxygenation For Systemic Lupus Erythematosus: An Elso Registry Analysis, Maria Pereira, Danielle Guffey, Katherine Doane, Eyal Muscal, Carla Levin, Peter Rycus, Marc Anders, Andrea Ontaneda

Faculty, Staff and Students Publications

The success of extracorporeal membrane oxygenation (ECMO) in treating Systemic Lupus Erythematosus (SLE) and the risk factors associated with mortality remain uncertain. Methods: We describe the survival outcomes at discharge of the largest SLE cohort on ECMO support. We performed a retrospective cohort study of the Extracorporeal Life Support Organization registry database from 2012 to 2022. Pediatric and adult survivor groups were analyzed using descriptive statistics for the primary study outcome of survival to hospital discharge. Risk predictors for survival were determined by logistic regression.Results: We included 48 children and 368 adults with SLE. Overall, 198 patients (54%) survived …