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School of Medicine Faculty Publications

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Full-Text Articles in Diseases

Viral Epitope Scanning Reveals Correlation Between Seasonal Hcovs And Sars-Cov-2 Antibody Responses Among Cancer And Non-Cancer Patients, Salum J. Lidenge, Dicle Yalcin, Sydney J. Bennett, Owen Ngalamika, Brenda B. Kweyamba, Chacha J. Mwita, For Yue Tso, Julius Mwaiselage, John T. West, Charles Wood Mar 2024

Viral Epitope Scanning Reveals Correlation Between Seasonal Hcovs And Sars-Cov-2 Antibody Responses Among Cancer And Non-Cancer Patients, Salum J. Lidenge, Dicle Yalcin, Sydney J. Bennett, Owen Ngalamika, Brenda B. Kweyamba, Chacha J. Mwita, For Yue Tso, Julius Mwaiselage, John T. West, Charles Wood

School of Medicine Faculty Publications

Seasonal coronaviruses (HCoVs) are known to contribute to cross-reactive antibody (Ab) responses against SARS-CoV-2. While these responses are predictable due to the high homology between SARS-CoV-2 and other CoVs, the impact of these responses on susceptibility to SARS-CoV-2 infection in cancer patients is unclear. To investigate the influence of prior HCoV infection on anti-SARS-CoV-2 Ab responses among COVID-19 asymptomatic individuals with cancer and controls without cancers, we utilized the VirScan technology in which phage immunoprecipitation and sequencing (PhIP-seq) of longitudinal plasma samples was performed to investigate high-resolution (i.e., epitope level) humoral CoV responses. Despite testing positive for anti-SARS-CoV-2 Ab in …


Alkindi Sprinkle For Pediatric Patients With Primary Adrenocortical Insufficiency: A Narrative Review, Alan D. Kaye, Munira E. Khaled, Kristin Nicole Bembenick, John Lacey, Anamika Tandon, Rucha A. Kelkar, Alyssa G. Derouen, Corrado Ballaera, Debbie Chandler, Shahab Ahmadzadeh, Sahar Shekoohi, Giustino Varrassi Mar 2024

Alkindi Sprinkle For Pediatric Patients With Primary Adrenocortical Insufficiency: A Narrative Review, Alan D. Kaye, Munira E. Khaled, Kristin Nicole Bembenick, John Lacey, Anamika Tandon, Rucha A. Kelkar, Alyssa G. Derouen, Corrado Ballaera, Debbie Chandler, Shahab Ahmadzadeh, Sahar Shekoohi, Giustino Varrassi

School of Medicine Faculty Publications

Adrenocortical insufficiency, also known as adrenal insufficiency (AI), is an endocrine disorder characterized by inadequate production of adrenal hormones, including glucocorticoids and mineralocorticoids (MCs). The condition can be categorized as primary, secondary, or tertiary AI, depending on the location of the defect. Classical symptoms of AI include weakness, fatigue, abdominal pain, tachycardia, hypotension, electrolyte imbalances, and hyperpigmentation. In children, the most common cause of AI is classical congenital adrenal hyperplasia, which results from a deficiency in the 21-hydroxylase enzyme. The 21-hydroxylase enzyme produces all steroids, such as cortisol and aldosterone. AI management primarily involves hormone replacement therapy, typically with oral …


Acute And Chronic Central Nervous System Oxidative Stress/Toxicity During Hyperbaric Oxygen Treatment Of Subacute And Chronic Neurological Conditions, Paul G. Harch, Stacey Rhodes Mar 2024

Acute And Chronic Central Nervous System Oxidative Stress/Toxicity During Hyperbaric Oxygen Treatment Of Subacute And Chronic Neurological Conditions, Paul G. Harch, Stacey Rhodes

School of Medicine Faculty Publications

INTRODUCTION: Oxygen toxicity has been defined as acute central nervous system (CNS), acute pulmonary, and chronic pulmonary oxygen toxicity. This study identifies acute and chronic CNS oxygen toxicity under 2.0 atmospheres absolute (ATA) pressure of oxygen. Methods: The authors' medical records from September 29, 1989 to January 20, 2023 and correspondence to the authors (9/1994 to 1/20.2023) from patients with signs and/or symptoms historically identified as acute CNS oxygen toxicity and those with neurological deterioration receiving hyperbaric oxygen for neurological conditions were reviewed. Acute cases were those occurring with ≤ 5 HBOTs and chronic cases > 5 HBOTs. Chronic cases were …


Advancing Treatment In Atopic Dermatitis: A Comprehensive Review Of Clinical Efficacy, Safety, And Comparative Insights Into Corticosteroids, Calcineurin Inhibitors, And Phosphodiesterase-4 Inhibitors As Topical Therapies, Tyler D. Hernandez, Sarah J. Aleman, Maria Bao-Loc-Trung, Michael V. Forte, William Brandt, Catherine Armstrong, Jeffrey Howard, Chizoba N. Mosieri, Shahab Ahmadzadeh, Giustino Varrassi, Sahar Shekoohi, Alan D. Kaye Mar 2024

Advancing Treatment In Atopic Dermatitis: A Comprehensive Review Of Clinical Efficacy, Safety, And Comparative Insights Into Corticosteroids, Calcineurin Inhibitors, And Phosphodiesterase-4 Inhibitors As Topical Therapies, Tyler D. Hernandez, Sarah J. Aleman, Maria Bao-Loc-Trung, Michael V. Forte, William Brandt, Catherine Armstrong, Jeffrey Howard, Chizoba N. Mosieri, Shahab Ahmadzadeh, Giustino Varrassi, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Atopic dermatitis (AD) is a pervasive and multifaceted dermatological disorder causing daily distress to afflicted individuals worldwide. This comprehensive review synthesizes the historical and contemporary advancements in therapeutic strategies, offering a critical analysis of their efficacy, safety profiles, and adaptability. The enduring role of topical corticosteroids in managing AD is examined, acknowledging their potent anti-inflammatory properties alongside their potential adverse side effects, particularly in extended usage. The article explores the utilization of topical calcineurin inhibitors like tacrolimus and pimecrolimus, highlighting their novel anti-inflammatory pathways while also scrutinizing concerns over potential malignancies that relegate them to second-line therapy. The present investigation …


Acute Neutrophilic Vasculitis (Leukocytoclasia) In 36 Covid-19 Autopsy Brains, Roy H. Rhodes, Gordon L. Love, Fernanda Da Silva Lameira, Maryam Sadough Shahmirzadi, Sharon E. Fox, Richard S. Vander Heide Feb 2024

Acute Neutrophilic Vasculitis (Leukocytoclasia) In 36 Covid-19 Autopsy Brains, Roy H. Rhodes, Gordon L. Love, Fernanda Da Silva Lameira, Maryam Sadough Shahmirzadi, Sharon E. Fox, Richard S. Vander Heide

School of Medicine Faculty Publications

Background: Hypercytokinemia, the renin-angiotensin system, hypoxia, immune dysregulation, and vasculopathy with evidence of immune-related damage are implicated in brain morbidity in COVID-19 along with a wide variety of genomic and environmental influences. There is relatively little evidence of direct SARS-CoV-2 brain infection in COVID-19 patients. Methods: Brain histopathology of 36 consecutive autopsies of patients who were RT-PCR positive for SARS-CoV-2 was studied along with findings from contemporary and pre-pandemic historical control groups. Immunostaining for serum and blood cell proteins and for complement components was employed. Microcirculatory wall complement deposition in the COVID-19 cohort was compared to historical control cases. Comparisons …


Proposal For Standardized Ultrasound Analysis Of The Salivary Glands: Part 1 Submandibular Gland, Henry T. Hoffman, Michael Koch, Robert Lee Witt, William R. Ryan, Johannes Zenk, Philippe Katz, Rahmatullah Rahmati, Christopher Rassekh, Francisco Donato, Timothy M. Mcculloch, Arjun S. Joshi, Jolie Lien Chang, M. Boyd Gillespie, Priscilla F.A. Pichardo, Lisa Ann Orloff, Antoino Marcelino, Piper Wenzel, David Cohen, Christopher E. Fundakowski, David M. Cognetti, Rohan R. Walvekar, Antonio Bertelli, Harry Quon, Carryn Anderson, Bruno Policeni, Gordy Siegel Feb 2024

Proposal For Standardized Ultrasound Analysis Of The Salivary Glands: Part 1 Submandibular Gland, Henry T. Hoffman, Michael Koch, Robert Lee Witt, William R. Ryan, Johannes Zenk, Philippe Katz, Rahmatullah Rahmati, Christopher Rassekh, Francisco Donato, Timothy M. Mcculloch, Arjun S. Joshi, Jolie Lien Chang, M. Boyd Gillespie, Priscilla F.A. Pichardo, Lisa Ann Orloff, Antoino Marcelino, Piper Wenzel, David Cohen, Christopher E. Fundakowski, David M. Cognetti, Rohan R. Walvekar, Antonio Bertelli, Harry Quon, Carryn Anderson, Bruno Policeni, Gordy Siegel

School of Medicine Faculty Publications

Objectives: The Salivary Gland Committee of the American Academy of Otolaryngology-Head and Neck Surgery seeks to standardize terminology and technique for ultrasonograpy used in the evaluation and treatment of salivary gland disorders. Methods: Development of expert opinion obtained through interaction with international practitioners representing multiple specialties. This committee work includes a comprehensive literature review with presentation of case examples to propose a standardized protocol for the language used in ultrasound salivary gland assessment. Results: A multiple segment proposal is initiated with this focus on the submandibular gland. We provide a concise rationale for recommended descriptive language highlighted by a more …


Investigating The "Sex Paradox" In Pulmonary Arterial Hypertension: Results From The Pulmonary Hypertension Association Registry (Phar), Jacqueline T. Desjardin, Noah Kime, Nicholas A. Kolaitis, Richard A. Kronmal, Matthew R. Lammi, Stephen C. Mathai, Corey E. Ventetuolo, Teresa De Marco Feb 2024

Investigating The "Sex Paradox" In Pulmonary Arterial Hypertension: Results From The Pulmonary Hypertension Association Registry (Phar), Jacqueline T. Desjardin, Noah Kime, Nicholas A. Kolaitis, Richard A. Kronmal, Matthew R. Lammi, Stephen C. Mathai, Corey E. Ventetuolo, Teresa De Marco

School of Medicine Faculty Publications

BACKGROUND: Female sex is a significant risk factor for pulmonary arterial hypertension (PAH), yet males with PAH have worse survival - a phenomenon referred to as the "sex paradox" in PAH. METHODS: All adult PAH patients in the Pulmonary Hypertension Association Registry (PHAR) with congruent sex and gender were included. Baseline differences in demographics, hemodynamics, functional parameters, and quality of life were assessed by sex. Kaplan-Meier survival analysis was used to evaluate survival by sex. Mediation analysis was conducted with Cox proportional hazards regression by comparing the unadjusted hazard ratios for sex before and after adjustment for covariates. The plausibility …


Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch Feb 2024

Ic3d Classification Of Corneal Dystrophies-Edition 3, Jayne S. Weiss, Christopher J. Rapuano, Berthold Seitz, Massimo Busin, Tero T. Kivelä, Nacim Bouheraoua, Cecilie Bredrup, Ken K. Nischal, Harshvardhan Chawla, Vincent Borderie, Kenneth R. Kenyon, Eung Kweon Kim, Hans Ulrik Møller, Francis L. Munier, Tim Berger, Walter Lisch

School of Medicine Faculty Publications

PURPOSE: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is the third edition of the IC3D nomenclature. METHODS: Peer-reviewed publications from 2014 to 2023 were evaluated. The new information was used to update the anatomic classification and each of the 22 standardized templates including the level of evidence for being a corneal dystrophy [from category 1 (most evidence) to category 4 (least evidence)]. RESULTS: Epithelial recurrent erosion dystrophies now include epithelial recurrent erosion dystrophy, category 1 ( …


Effects Of Metformin On Glucose Metabolism And Mitochondrial Function In Patients With Obstructive Sleep Apnea: A Pilot Randomized Trial, Elizabeth R.M. Zunica, Elizabeth C. Heintz, Wagner S. Dantas, R. Caitlin Hebert, Ma Kayla Tanksley, Robbie A. Beyl, Edward C. Mader, John P. Kirwan, Christopher L. Axelrod, Prachi Singh Feb 2024

Effects Of Metformin On Glucose Metabolism And Mitochondrial Function In Patients With Obstructive Sleep Apnea: A Pilot Randomized Trial, Elizabeth R.M. Zunica, Elizabeth C. Heintz, Wagner S. Dantas, R. Caitlin Hebert, Ma Kayla Tanksley, Robbie A. Beyl, Edward C. Mader, John P. Kirwan, Christopher L. Axelrod, Prachi Singh

School of Medicine Faculty Publications

Obstructive sleep apnea (OSA) is associated with increased risk for diabetes, and standard treatment with positive airway pressure (PAP) device shows inconsistent effects on glucose metabolism. Metformin is known to treat and prevent diabetes, but its effects on skeletal muscle mitochondrial function are not completely understood. Here, we evaluate the effects of metformin on glucose metabolism and skeletal muscle mitochondrial function in patients with OSA. Sixteen adults with obesity (50.9 ± 6.7 years, BMI: 36.5 ± 2.9 kg/m2) and moderate-to-severe OSA were provided with PAP treatment and randomized to 3 months of placebo (n = 8) or metformin (n = …


Assessment Of Social Vulnerability Impact In Care And Prognosis Of Sinonasal Cancers In The United States, Achilles A. Kanaris, David J. Fei-Zhang, Lily B. Fletcher, Stephanie S. Smith, Urjeet A. Patel, Jill N. D'Souza, Daniel C. Chelius, Anthony M. Sheyn, Jeffrey C. Rastatter Feb 2024

Assessment Of Social Vulnerability Impact In Care And Prognosis Of Sinonasal Cancers In The United States, Achilles A. Kanaris, David J. Fei-Zhang, Lily B. Fletcher, Stephanie S. Smith, Urjeet A. Patel, Jill N. D'Souza, Daniel C. Chelius, Anthony M. Sheyn, Jeffrey C. Rastatter

School of Medicine Faculty Publications

Key Points: Social determinants of health interactively influence sinonasal cancer care and prognosis. Housing-transportation and socioeconomic status showed the largest associations with disparities. The social vulnerability index can reveal the social determinants of sinonasal cancers.


Safety And Timing Of Early Therapeutic Anticoagulation Therapy After Craniotomy, John M. Wilson, Kierany B. Shelvin, Sarah E. Lawhon, George A. Crabill, Ellery A. Hayden, Alan J. Velander Feb 2024

Safety And Timing Of Early Therapeutic Anticoagulation Therapy After Craniotomy, John M. Wilson, Kierany B. Shelvin, Sarah E. Lawhon, George A. Crabill, Ellery A. Hayden, Alan J. Velander

School of Medicine Faculty Publications

Background: To date, there are few guidelines and studies to guide the timing of initiation of therapeutic anticoagulation (AC) after craniotomy. The goal of this study was to assess the timing, safety, and outcomes of patients following the administration of therapeutic AC after craniotomy. Methods: A retrospective case–control study was performed evaluating all craniotomy patients from August 2017 to July 2021. Cases were selected if they received therapeutic AC within ten days of craniotomy. Nineteen out of 1013 craniotomy patients met the inclusion criteria. Indications for therapeutic AC were diverse, including deep venous thrombosis, pulmonary embolism, dural venous sinus thrombosis, …


Etiology Of Drug-Induced Edema: A Review Of Dihydropyridine, Thiazolidinedione, And Other Medications Causing Edema, Evan S. Sinnathamby, Bretton T. Urban, Robert A. Clark, Logan T. Roberts, Audrey J. De Witt, Danielle M. Wenger, Aya Mouhaffel, Olga Willett, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi Feb 2024

Etiology Of Drug-Induced Edema: A Review Of Dihydropyridine, Thiazolidinedione, And Other Medications Causing Edema, Evan S. Sinnathamby, Bretton T. Urban, Robert A. Clark, Logan T. Roberts, Audrey J. De Witt, Danielle M. Wenger, Aya Mouhaffel, Olga Willett, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi

School of Medicine Faculty Publications

Edema is an accumulation of fluid in the body's tissues that affects millions of Americans yearly. It can affect multiple body parts, for example, the brain or eyes, but often occurs in the periphery, including the feet and legs. Medications, such as dihydropyridine and thiazolidinediones (TZDs), can be the etiology of edema. Edema can develop in association with problems in the vasculature or lymphatic flow. In recent years, a better understanding of these drug-induced mechanisms has been appreciated. Specifically, dihydropyridines can increase hydrostatic pressure and cause selective pre-capillary vessel vasodilation. TZDs can cause edema through increased vascular permeability and increased …


Pancreatic Cancer Tumor Microenvironment Is A Major Therapeutic Barrier And Target, Conner Hartupee, Bolni Marius Nagalo, Chiswili Y. Chabu, Mulu Z. Tesfay, Joycelynn Coleman-Barnett, John T. West, Omeed Moaven Feb 2024

Pancreatic Cancer Tumor Microenvironment Is A Major Therapeutic Barrier And Target, Conner Hartupee, Bolni Marius Nagalo, Chiswili Y. Chabu, Mulu Z. Tesfay, Joycelynn Coleman-Barnett, John T. West, Omeed Moaven

School of Medicine Faculty Publications

Pancreatic Ductal Adenocarcinoma (PDAC) is projected to become the 2nd leading cause of cancer-related deaths in the United States. Limitations in early detection and treatment barriers contribute to the lack of substantial success in the treatment of this challenging-to-treat malignancy. Desmoplasia is the hallmark of PDAC microenvironment that creates a physical and immunologic barrier. Stromal support cells and immunomodulatory cells face aberrant signaling by pancreatic cancer cells that shifts the complex balance of proper repair mechanisms into a state of dysregulation. The product of this dysregulation is the desmoplastic environment that encases the malignant cells leading to a dense, hypoxic …


Device-Assisted Enteroscopy In The Surveillance Of Intestinal Hamartomas In Peutz-Jeghers Syndrome, Omar Wahid Mohamed Elfeky, Suraj Panjwani, David Cave, Daniel Wild, Daniel Raines Jan 2024

Device-Assisted Enteroscopy In The Surveillance Of Intestinal Hamartomas In Peutz-Jeghers Syndrome, Omar Wahid Mohamed Elfeky, Suraj Panjwani, David Cave, Daniel Wild, Daniel Raines

School of Medicine Faculty Publications

Background: PJS is an autosomal dominant, genetic disorder characterized by the formation of hamartomatous polyps in the gastrointestinal tract. These polyps result in significant morbidity due to adverse events including intestinal obstruction, bleeding, and malignancy. The aim of this study was to describe the role of DAE in monitoring and prophylactic polypectomy within the small bowel. Methods: Electronic medical records were surveyed to identify all DAE procedures performed in patients with PJS within three U.S. referral centers between Jan 1st 2007 and January 1st 2020. Individual charts were reviewed to collect and analyze specific data points. Primary end points included …


Ikaros Expression Drives The Aberrant Metabolic Phenotype Of Macrophages In Chronic Hiv Infection, Cecilia Vittori, Celeste Faia, Dorota Wyczechowska, Amber Trauth, Karlie Plaisance-Bonstaff, Mary Meyaski-Schluter, Krzysztof Reiss, Francesca Peruzzi Jan 2024

Ikaros Expression Drives The Aberrant Metabolic Phenotype Of Macrophages In Chronic Hiv Infection, Cecilia Vittori, Celeste Faia, Dorota Wyczechowska, Amber Trauth, Karlie Plaisance-Bonstaff, Mary Meyaski-Schluter, Krzysztof Reiss, Francesca Peruzzi

School of Medicine Faculty Publications

The increased risk for acquiring secondary illnesses in people living with HIV (PLWH) has been associated with immune dysfunction. We have previously found that circulating monocytes from PLWH display a trained phenotype. Here, we evaluated the metabolic profile of these cells and found increased mitochondrial respiration and glycolysis of monocyte-derived macrophages (MDMs) from PLWH. We additionally found that cART shifted the energy metabolism of MDMs from controls toward increased utilization of mitochondrial respiration. Importantly, both downregulation of IKAROS expression and inhibition of the mTOR pathway reversed the metabolic profile of MDMs from PLWH and cART-treated control-MDMs. Altogether, this study reveals …


Hyperkalemia: Pharmacotherapies And Clinical Considerations, Evan S. Sinnathamby, Kelly T. Banh, William T. Barham, Tyler D. Hernandez, Audrey J. De Witt, Danielle M. Wenger, Vincent G. Klapper, David Mcgregor, Antonella Paladini, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi Jan 2024

Hyperkalemia: Pharmacotherapies And Clinical Considerations, Evan S. Sinnathamby, Kelly T. Banh, William T. Barham, Tyler D. Hernandez, Audrey J. De Witt, Danielle M. Wenger, Vincent G. Klapper, David Mcgregor, Antonella Paladini, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi

School of Medicine Faculty Publications

Hyperkalemia has been defined as a condition where a serum potassium level is > 5.5 mmol/l. It is associated with fatal dysrhythmias and muscular dysfunction. Certain medical conditions, such as chronic kidney disease (CKD), diabetes mellitus, and others, can lead to hyperkalemia. Many of the signs of hyperkalemia are nonspecific. A history and physical examination can be beneficial in the diagnosis of the condition. In this regard, certain characteristic electrocardiogram findings are associated with hyperkalemia along with laboratory potassium levels. In acute and potentially lethal conditions, hyperkalemia treatments include glucose and insulin, bicarbonate, calcium gluconate, beta-2 agonists, hyperventilation, and dialysis. There …


Antimicrobial And Synergistic Effects Of Syzygium Cumini, Moringa Oleifera, And Tinospora Cordifolia Against Different Candida Infections, Adedayo O. Adelakun, Ayoola Awosika, Uzochukwu Adabanya, Adekunle E. Omole, Akinyode I. Olopoda, Emmanuel T. Bello Jan 2024

Antimicrobial And Synergistic Effects Of Syzygium Cumini, Moringa Oleifera, And Tinospora Cordifolia Against Different Candida Infections, Adedayo O. Adelakun, Ayoola Awosika, Uzochukwu Adabanya, Adekunle E. Omole, Akinyode I. Olopoda, Emmanuel T. Bello

School of Medicine Faculty Publications

Introduction The burden of multiple drug resistance in human pathogens has necessitated the search for and development of antimicrobial agents with a wide range of structural classes and potentials to selectively act on the several mechanisms of actions exhibited by the pathogens. However, most synthetic antimicrobial agents have been linked with adverse side effects and high costs, furthering the need to explore more options. Syzygium cumini, Moringa oleifera, and Tinospora cordifolia are three medicinal plants used in traditional medicine systems for various infectious diseases. They contain various phytochemicals that exhibit antimicrobial activities against various bacteria, fungi, and parasites. The mechanisms …


Common Heart Failure With Preserved Ejection Fraction Animal Models Yield Disparate Myofibril Mechanics, Axel J. Fenwick, Vivek P. Jani, D. Brian Foster, Thomas E. Sharp, Traci T. Goodchild, Kyle Lapenna, Jake E. Doiron, David J. Lefer, Joseph A. Hill, David A. Kass, Anthony Cammarato Jan 2024

Common Heart Failure With Preserved Ejection Fraction Animal Models Yield Disparate Myofibril Mechanics, Axel J. Fenwick, Vivek P. Jani, D. Brian Foster, Thomas E. Sharp, Traci T. Goodchild, Kyle Lapenna, Jake E. Doiron, David J. Lefer, Joseph A. Hill, David A. Kass, Anthony Cammarato

School of Medicine Faculty Publications

No abstract provided.


Stevens-Johnson Syndrome From Combined Allopurinol And Angiotensin-Converting Enzyme Inhibitors: A Narrative Review, Isabella M. Fabian, Kirsten Maddox, Cameron Robicheaux, Rahib K. Islam, Ahmed Anwar, Bradley Dorius, Christopher L. Robinson, Adam M. Kaye, Giustino Varrassi, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye Jan 2024

Stevens-Johnson Syndrome From Combined Allopurinol And Angiotensin-Converting Enzyme Inhibitors: A Narrative Review, Isabella M. Fabian, Kirsten Maddox, Cameron Robicheaux, Rahib K. Islam, Ahmed Anwar, Bradley Dorius, Christopher L. Robinson, Adam M. Kaye, Giustino Varrassi, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Stevens-Johnson syndrome (SJS) is a severe and potentially debilitating skin reaction frequently related to medication use. Allopurinol and angiotensin-converting enzyme (ACE) inhibitors are commonly prescribed medications for prevalent health conditions worldwide, and their interaction associated with SJS warrants further investigation. A comprehensive literature search was performed to investigate cases as studies related to SJS occurring in patients with concomitant use of allopurinol and ACE inhibitors. We identified case reports and studies detailing hypersensitivity reactions, including SJS, attributed to a combination of allopurinol and ACE inhibitors. Despite the drug-drug interactions or lack thereof seen in patient populations, there is no definitive …


Macrocephaly And Digital Anomalies Expand The Phenotypic Spectrum Of Pgap2 Variants In Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 (Hpmrs3), Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D.J. Labonne, Dilan Wellalage Don, Vijay Gupta, Tae Ik Choi, Saadullah Khan, Naveed Wasif, Yves Lacassie, Lawrence C. Layman, Sibel Aylin Ugur Iseri, Cheol Hee Kim, Hyung Goo Kim Jan 2024

Macrocephaly And Digital Anomalies Expand The Phenotypic Spectrum Of Pgap2 Variants In Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 (Hpmrs3), Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D.J. Labonne, Dilan Wellalage Don, Vijay Gupta, Tae Ik Choi, Saadullah Khan, Naveed Wasif, Yves Lacassie, Lawrence C. Layman, Sibel Aylin Ugur Iseri, Cheol Hee Kim, Hyung Goo Kim

School of Medicine Faculty Publications

Glycosylphosphatidylinositols (GPIs) anchor over 150 proteins as GPI-anchored proteins (GPI-APs) with crucial roles in diverse biological processes. The highly conserved biosynthesis of GPI-APs involves precise steps with at least 21 genes, categorized as PIG and PGAP genes. Pathogenic variants in these genes are linked to human diseases, highlighting the importance of each biosynthesis step. PGAP2 stands out among these genes due to its association with an expanded clinical spectrum of neurodevelopmental disorder (NDD) phenotypes with biallelic pathogenic variants. We present four patients from two families, one consanguineous and the other nonconsanguineous, each displaying distinct clinical presentations, including intellectual disability, hyperphosphatasia, …


Amondys 45 (Casimersen), A Novel Antisense Phosphorodiamidate Morpholino Oligomer: Clinical Considerations For Treatment In Duchenne Muscular Dystrophy, Megan E. Vasterling, Rebecca J. Maitski, Brice A. Davis, Julie E. Barnes, Rucha A. Kelkar, Rachel J. Klapper, Hirni Patel, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi Dec 2023

Amondys 45 (Casimersen), A Novel Antisense Phosphorodiamidate Morpholino Oligomer: Clinical Considerations For Treatment In Duchenne Muscular Dystrophy, Megan E. Vasterling, Rebecca J. Maitski, Brice A. Davis, Julie E. Barnes, Rucha A. Kelkar, Rachel J. Klapper, Hirni Patel, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye, Giustino Varrassi

School of Medicine Faculty Publications

AMONDYS 45 (casimersen) is an antisense oligonucleotide therapy used to treat Duchenne muscular dystrophy (DMD), a rare genetic disorder characterized by a mutation in the DMD gene. Symptoms include progressive muscle weakness, respiratory and cardiac complications, and premature death. Casimersen targets a specific mutation in the DMD gene that results in the absence of dystrophin protein, a key structural component of muscle fibers. While there is currently no cure for DMD, exon-skipping therapy works by restoring the reading frame of the mutated gene, allowing the production of a partially functional dystrophin protein. Clinical trials of casimersen have shown promising results …


Folate Deficiency Modifies The Risk Of Cin3+ Associated With Dna Methylation Levels: A Nested Case–Control Study From The Ascus-Col Trial, María C. Agudelo, Samuel Agudelo, Attila Lorincz, Arianis Tatiana Ramírez, Kelly Melisa Castañeda, Isabel Garcés-Palacio, Arnold H. Zea, Chandrika Piyathilake, Gloria Ines Sanchez Dec 2023

Folate Deficiency Modifies The Risk Of Cin3+ Associated With Dna Methylation Levels: A Nested Case–Control Study From The Ascus-Col Trial, María C. Agudelo, Samuel Agudelo, Attila Lorincz, Arianis Tatiana Ramírez, Kelly Melisa Castañeda, Isabel Garcés-Palacio, Arnold H. Zea, Chandrika Piyathilake, Gloria Ines Sanchez

School of Medicine Faculty Publications

Purpose: To our knowledge, there are very few studies evaluating if the levels of folate modify the risk of cervical intraepithelial neoplasia grade 2 and higher (CIN2+ and CIN3+) associated with the levels of HPV genome methylation, two cofactors related to single carbon metabolism and independently associated with cervical cancer in previous studies. We conducted a case–control study nested in a three-arm randomized clinical pragmatic trial (ASCUS-COL trial) to evaluate the risk of CIN3+ associated with methylation levels according to serum folate concentrations. Methods: Cases (n = 155) were women with histologically confirmed CIN2+ (113 CIN2, 38 CIN3, and 4 …


Arachnoid Webs With Spinal Cord Compression: Insights From Three Cases, Kaleb Derouen, Kierany B. Shelvin, Tayler Payton, George A. Crabill, John M. Wilson, Gabriel Tender Dec 2023

Arachnoid Webs With Spinal Cord Compression: Insights From Three Cases, Kaleb Derouen, Kierany B. Shelvin, Tayler Payton, George A. Crabill, John M. Wilson, Gabriel Tender

School of Medicine Faculty Publications

Spinal arachnoid webs are intradural bands of abnormally formed arachnoid tissue, located within the subarachnoid space and causing compression of the dorsal aspect of the spinal cord. Arachnoid webs are uncommon and can be difficult to treat. We report 3 patients presenting with a spinal arachnoid web within a 6-month period. All of them exhibited signs of thoracic myelopathy and the MRI showed the pathognomonic 'scalpel sign'. Two of the patients underwent surgery for removal of their spinal arachnoid web, whereas the third patient case is currently being managed conservatively. We also present our 2D intraoperative video for arachnoid web …


Myod-Skp2 Axis Boosts Tumorigenesis In Fusion Negative Rhabdomyosarcoma By Preventing Differentiation Through P57kip2 Targeting, Silvia Pomella, Matteo Cassandri, Lucrezia D’Archivio, Antonella Porrazzo, Cristina Cossetti, Doris Phelps, Clara Perrone, Michele Pezzella, Antonella Cardinale, Marco Wachtel, Sara Aloisi, David Milewski, Marta Colletti, Prethish Sreenivas, Zoë S. Walters, Giovanni Barillari, Angela Di Giannatale, Giuseppe Maria Milano, Cristiano De Stefanis, Rita Alaggio, Sonia Rodriguez-Rodriguez, Nadia Carlesso, Christopher R. Vakoc, Enrico Velardi, Beat W. Schafer, Ernesto Guccione, Susanne A. Gatz, Lucio Miele Dec 2023

Myod-Skp2 Axis Boosts Tumorigenesis In Fusion Negative Rhabdomyosarcoma By Preventing Differentiation Through P57kip2 Targeting, Silvia Pomella, Matteo Cassandri, Lucrezia D’Archivio, Antonella Porrazzo, Cristina Cossetti, Doris Phelps, Clara Perrone, Michele Pezzella, Antonella Cardinale, Marco Wachtel, Sara Aloisi, David Milewski, Marta Colletti, Prethish Sreenivas, Zoë S. Walters, Giovanni Barillari, Angela Di Giannatale, Giuseppe Maria Milano, Cristiano De Stefanis, Rita Alaggio, Sonia Rodriguez-Rodriguez, Nadia Carlesso, Christopher R. Vakoc, Enrico Velardi, Beat W. Schafer, Ernesto Guccione, Susanne A. Gatz, Lucio Miele

School of Medicine Faculty Publications

Rhabdomyosarcomas (RMS) are pediatric mesenchymal-derived malignancies encompassing PAX3/7-FOXO1 Fusion Positive (FP)-RMS, and Fusion Negative (FN)-RMS with frequent RAS pathway mutations. RMS express the master myogenic transcription factor MYOD that, whilst essential for survival, cannot support differentiation. Here we discover SKP2, an oncogenic E3-ubiquitin ligase, as a critical pro-tumorigenic driver in FN-RMS. We show that SKP2 is overexpressed in RMS through the binding of MYOD to an intronic enhancer. SKP2 in FN-RMS promotes cell cycle progression and prevents differentiation by directly targeting p27Kip1 and p57Kip2, respectively. SKP2 depletion unlocks a partly MYOD-dependent myogenic transcriptional program and strongly affects stemness and tumorigenic …


First-Generation Cephalosporins For Treatment Of Acute Hematogenous Osteomyelitis In Children: A Study Of Efficacy And Adverse Effects, Lisa Hiskey, Hiba Saifuddin, Emily R. Levy, Roland Hentz, Nipunie S. Rajapakse, Laura M. Dinnes, Elizabeth H. Ristagno Dec 2023

First-Generation Cephalosporins For Treatment Of Acute Hematogenous Osteomyelitis In Children: A Study Of Efficacy And Adverse Effects, Lisa Hiskey, Hiba Saifuddin, Emily R. Levy, Roland Hentz, Nipunie S. Rajapakse, Laura M. Dinnes, Elizabeth H. Ristagno

School of Medicine Faculty Publications

BACKGROUND: Acute hematogenous osteomyelitis (AHO) is a relatively infrequent but significant infection in pediatric patients. As is the most common cause of AHO, intravenous and oral first-generation cephalosporins are common therapies. Cephalexin is a commonly prescribed oral therapy for pediatric AHO, although it requires frequent dosing that may affect adherence. Cefadroxil is a comparable oral first-generation cephalosporin with a more desirable dosing schedule. METHODS: We reviewed pediatric patients admitted to Mayo Clinic between March 2002 and September 2020 for management of AHO who received treatment with a first-generation cephalosporin. We reviewed timing of oral therapy transition, therapy-associated adverse effects, and …


Sexually Transmitted Infection Prevention Perspectives In Black Men Who Have Sex With Men Taking Preexposure Prophylaxis In New Orleans, Meredith E. Clement, Jeremy Beckford, Aish Lovett, Julia Siren, Marie Adorno, Sara Legrand, Marsha Bennett, Jamilah Taylor, Emily Hanlen-Rosado, Brian Perry, Amy Corneli Dec 2023

Sexually Transmitted Infection Prevention Perspectives In Black Men Who Have Sex With Men Taking Preexposure Prophylaxis In New Orleans, Meredith E. Clement, Jeremy Beckford, Aish Lovett, Julia Siren, Marie Adorno, Sara Legrand, Marsha Bennett, Jamilah Taylor, Emily Hanlen-Rosado, Brian Perry, Amy Corneli

School of Medicine Faculty Publications

INTRODUCTION: Profound sexual health disparities exist for Black men who have sex with men (MSM) in the US South, including a high prevalence of sexually transmitted infections (STIs). Sexually transmitted infection prevention strategies beyond condoms are needed for Black MSM taking preexposure prophylaxis (PrEP). METHODS: We conducted in-depth interviews with Black MSM taking PrEP in New Orleans, Louisiana. Informed by the Health Belief Model, we asked about participants' perceived susceptibility, severity, and concerns regarding STIs, and perceived benefits of STI prevention. We also asked about willingness to use various STI prevention strategies, including antibiotic prophylaxis. Interviews were audio-recorded and analyzed …


Alt Free Flap Coverage After Carotid Endarterectomy In The Setting Of Severe Radiation Changes, Richard F. Guidry, Hannah E. Doran, Mark W. Stalder Dec 2023

Alt Free Flap Coverage After Carotid Endarterectomy In The Setting Of Severe Radiation Changes, Richard F. Guidry, Hannah E. Doran, Mark W. Stalder

School of Medicine Faculty Publications

Carotid endarterectomy with patch angioplasty is commonly performed for severe atherosclerotic disease to reduce stroke risk. After neck radiation, loss of tissue planes; reactive fibrosis of skin; contraction; and rarely, necrosis of skin may occur, leading to severe wound complications and possible exposure of carotid artery reconstruction. Historically, local myocutaneous flaps have been performed to provide soft tissue coverage; however, these procedures may be associated with increased donor site morbidity and can be affected by radiation changes. This report describes the novel use of a fasciocutaneous free flap for durable vascularized soft tissue, and the associated secondary benefit of improved …


Variability In Provider Assessment Of Sepsis And Potential Of Host Response Technology To Address This Dilemma—Results Of An Online Delphi Study, Chadd K. Kraus, Hollis R. O’Neal, Nathan A. Ledeboer, Todd W. Rice, Wesley H. Self, Richard E. Rothman Dec 2023

Variability In Provider Assessment Of Sepsis And Potential Of Host Response Technology To Address This Dilemma—Results Of An Online Delphi Study, Chadd K. Kraus, Hollis R. O’Neal, Nathan A. Ledeboer, Todd W. Rice, Wesley H. Self, Richard E. Rothman

School of Medicine Faculty Publications

Potentially septic patients have a huge clinical and economic impact on hospitals and often present to the emergency department (ED) with undifferentiated symptoms. The triage of these patients is complex and has historically relied heavily upon provider judgment. This study aims to evaluate the consistency of provider judgment and the potential of a new host response sepsis test to aid in the triage process. A modified Delphi study involving 26 participants from multiple specialties was conducted to evaluate provider agreement about sepsis risk and to test proposed actions based on the results of a sepsis test. The participants considered case …


Tumor Infiltrating Lymphocytes (Tils) Are A Prognosis Biomarker In Colombian Patients With Triple Negative Breast Cancer, Carlos A. Huertas-Caro, Mayra A. Ramírez, Laura Rey-Vargas, Lina María Bejarano-Rivera, Diego Felipe Ballen, Marcela Nuñez, Juan Carlos Mejía, Luz Fernanda Sua-Villegas, Alicia Cock-Rada, Jovanny Zabaleta, Laura Fejerman, María Carolina Sanabria-Salas, Silvia J. Serrano-Gomez Dec 2023

Tumor Infiltrating Lymphocytes (Tils) Are A Prognosis Biomarker In Colombian Patients With Triple Negative Breast Cancer, Carlos A. Huertas-Caro, Mayra A. Ramírez, Laura Rey-Vargas, Lina María Bejarano-Rivera, Diego Felipe Ballen, Marcela Nuñez, Juan Carlos Mejía, Luz Fernanda Sua-Villegas, Alicia Cock-Rada, Jovanny Zabaleta, Laura Fejerman, María Carolina Sanabria-Salas, Silvia J. Serrano-Gomez

School of Medicine Faculty Publications

Triple negative breast cancer (TNBC) is highly immunogenic and high levels of tumor infiltrating lymphocytes (TILs) have been associated with a better prognosis and higher probability to achieve pathological complete response. Here, we explore the potential role of stromal TILs level and composition as a prognostic and predictive biomarker in TNBC. 195 Tumor biospecimens from patients diagnosed with TNBC were included. Stromal TILs (sTILs), positive CD4/CD8 cells were evaluated. Differences in clinic-pathological characteristics according to immune infiltration were assessed. The predictive and prognostic value of immune infiltration was analyzed by multivariate models. Higher immune infiltration was observed in patients with …


The Evolving Role Of Vericiguat In Patients With Chronic Heart Failure, Ross M. Dies, Corrie N. Jackson, Chelsi J. Flanagan, Evan S. Sinnathamby, Noah J. Spillers, Pooja Potharaju, Naina Singh, Giustino Varrassi, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye Dec 2023

The Evolving Role Of Vericiguat In Patients With Chronic Heart Failure, Ross M. Dies, Corrie N. Jackson, Chelsi J. Flanagan, Evan S. Sinnathamby, Noah J. Spillers, Pooja Potharaju, Naina Singh, Giustino Varrassi, Shahab Ahmadzadeh, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Heart failure (HF) is a chronic and progressive clinical disorder characterized by an inability to pump sufficient blood to meet metabolic demands. It poses a substantial global healthcare burden, leading to high morbidity, mortality, and economic impact. Current treatments for HF include lifestyle modifications, guideline-directed medical therapies (GDMT), and device interventions, but the need for novel therapeutic approaches remains significant. The introduction of vericiguat, a soluble guanylate cyclase stimulator, has shown promise in improving outcomes for heart failure patients. Vericiguat addresses the underlying pathophysiological mechanisms of heart failure by augmenting the cyclic guanosine monophosphate (cGMP) pathway, leading to enhanced cardiac …