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Full-Text Articles in Diseases

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 …


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, …


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.


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 …


Temporal Artery Pseudoaneurysm In A Pediatric Patient, Gowri Gowda, Donald Mendoza, Amanda Tullos, Jessica Zagory, Malachi Sheahan Dec 2023

Temporal Artery Pseudoaneurysm In A Pediatric Patient, Gowri Gowda, Donald Mendoza, Amanda Tullos, Jessica Zagory, Malachi Sheahan

School of Medicine Faculty Publications

Superficial temporal artery pseudoaneurysms are an uncommon vascular pathology that can present after head or facial trauma. Furthermore, they are rarely reported in the pediatric population. Ultrasound can be a useful tool in the diagnosis because it is easily accessible and can be rapidly acquired. We report a case that demonstrates the utility of ultrasound in the diagnosis of a superficial temporal artery pseudoaneurysm.


Gastrointestinal: A Rare Case Of Concurrent Vulvar Crohn's Disease And Pyoderma Gangrenosum, J. Bommireddipally, K. Broussard, H. Osman, A. Uhlhorn, N. Loganantharaj Nov 2023

Gastrointestinal: A Rare Case Of Concurrent Vulvar Crohn's Disease And Pyoderma Gangrenosum, J. Bommireddipally, K. Broussard, H. Osman, A. Uhlhorn, N. Loganantharaj

School of Medicine Faculty Publications

No abstract provided.


Cytomegalovirus And Varicella Zoster Virus Coinfection-Associated Central Hypoventilation Syndrome (Ondine's Curse), Marine Isakadze, Benjamin Zwain, Alan J. Velander, Jesus Lovera Nov 2023

Cytomegalovirus And Varicella Zoster Virus Coinfection-Associated Central Hypoventilation Syndrome (Ondine's Curse), Marine Isakadze, Benjamin Zwain, Alan J. Velander, Jesus Lovera

School of Medicine Faculty Publications

Central hypoventilation syndrome (CHS) is a rare condition resulting from damage to the respiratory centers in the central nervous system (CNS). It can be congenital or acquired and can cause hypoventilation, inadequate gas exchange, and respiratory failure, often during sleep but sometimes even while awake. CHS can lead to respiratory failure and life-threatening complications if not identified promptly. In this report, we present a rare case of a patient with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), who developed CHS likely due to an opportunistic infection by cytomegalovirus (CMV) and varicella zoster virus (VZV), manifesting as a lesion in the …


Tumor-Resident Lactobacillus Iners Confer Chemoradiation Resistance Through Lactate-Induced Metabolic Rewiring, Lauren E. Colbert, Molly B. El Alam, Rui Wang, Tatiana Karpinets, David Lo, Erica J. Lynn, Timothy A. Harris, Jacob H. Elnaggar, Kyoko Yoshida-Court, Katarina Tomasic, Julianna K. Bronk, Julie Sammouri, Ananta V. Yanamandra, Adilene V. Olvera, Lily G. Carlin, Travis Sims, Andrea Y. Delgado Medrano, Tatiana Cisneros Napravnik, Madison O'Hara, Daniel Lin, Chike O. Abana, Hannah X. Li, Patricia J. Eifel, Anuja Jhingran, Melissa Joyner, Lilie Lin, Lois M. Ramondetta, Andrew M. Futreal Oct 2023

Tumor-Resident Lactobacillus Iners Confer Chemoradiation Resistance Through Lactate-Induced Metabolic Rewiring, Lauren E. Colbert, Molly B. El Alam, Rui Wang, Tatiana Karpinets, David Lo, Erica J. Lynn, Timothy A. Harris, Jacob H. Elnaggar, Kyoko Yoshida-Court, Katarina Tomasic, Julianna K. Bronk, Julie Sammouri, Ananta V. Yanamandra, Adilene V. Olvera, Lily G. Carlin, Travis Sims, Andrea Y. Delgado Medrano, Tatiana Cisneros Napravnik, Madison O'Hara, Daniel Lin, Chike O. Abana, Hannah X. Li, Patricia J. Eifel, Anuja Jhingran, Melissa Joyner, Lilie Lin, Lois M. Ramondetta, Andrew M. Futreal

School of Medicine Faculty Publications

Tumor microbiota can produce active metabolites that affect cancer and immune cell signaling, metabolism, and proliferation. Here, we explore tumor and gut microbiome features that affect chemoradiation response in patients with cervical cancer using a combined approach of deep microbiome sequencing, targeted bacterial culture, and in vitro assays. We identify that an obligate L-lactate-producing lactic acid bacterium found in tumors, Lactobacillus iners, is associated with decreased survival in patients, induces chemotherapy and radiation resistance in cervical cancer cells, and leads to metabolic rewiring, or alterations in multiple metabolic pathways, in tumors. Genomically similar L-lactate-producing lactic acid bacteria commensal to other …


Left Pulmonary Artery Occlusion Following Device Closure Of Patent Ductus Arteriosus In Premature Infants, Jesus C. Jaile, Ernest Siwik, Sergio Bartakian Oct 2023

Left Pulmonary Artery Occlusion Following Device Closure Of Patent Ductus Arteriosus In Premature Infants, Jesus C. Jaile, Ernest Siwik, Sergio Bartakian

School of Medicine Faculty Publications

Background: Device closure of a patent ductus arteriosus (PDA) is rapidly evolving, with the Amplatzer Piccolo Occluder (Abbott) receiving US Food and Drug Administration approval and becoming the first device approved for PDA closure in patients ≥700 g. We report on the first known cases of complete left pulmonary artery (LPA) occlusion following Piccolo closure of a PDA in premature infants. Methods: Retrospective chart analysis of PDA closures. Results: We have performed over 50 cases of Piccolo device closure of the PDA in preterm neonates in the past 2 years, with these 2 cases representing our only complications (4%). This …


Bad To The Bone. Not All Bone Tumors Are Cancer: Case Of Long Bone Osteomyelitis, Tat W. Yau, Bennet D. Franz, Hanadi A. Osman, Jessica C. Rivera, Ashaur Azhar Sep 2023

Bad To The Bone. Not All Bone Tumors Are Cancer: Case Of Long Bone Osteomyelitis, Tat W. Yau, Bennet D. Franz, Hanadi A. Osman, Jessica C. Rivera, Ashaur Azhar

School of Medicine Faculty Publications

Long bone osteomyelitis could mimic bony tumor in clinical presentation and imaging studies. We present a case of a 47-year man who presented with leg pain, weight loss and night sweats that initially was thought to be related to osteosarcoma, later suffered a pathologic fracture from Staphylococcus aureus osteomyelitis. This case highlights the importance of source control of infection and careful clinical evaluation including radiographic and pathologic findings that can help physicians to differentiate between competing diagnoses.


Protein S Antibody As An Adjunct Therapy For Hemophilia B, Hope P. Wilson, Aliyah Pierre, Ashley L. Paysse, Narender Kumar, Brian C. Cooley, Pratyadipta Rudra, Adrianne W. Dorsey, Diana Polania-Villanueva, Sabyasachi Chatterjee, Maissaa Janbain, Maria C. Velez, Rinku Majumder Sep 2023

Protein S Antibody As An Adjunct Therapy For Hemophilia B, Hope P. Wilson, Aliyah Pierre, Ashley L. Paysse, Narender Kumar, Brian C. Cooley, Pratyadipta Rudra, Adrianne W. Dorsey, Diana Polania-Villanueva, Sabyasachi Chatterjee, Maissaa Janbain, Maria C. Velez, Rinku Majumder

School of Medicine Faculty Publications

ABSTRACT: Hemophilia B (HB) is caused by an inherited deficiency of plasma coagulation factor IX (FIX). Approximately 60% of pediatric patients with HB possess a severe form of FIX deficiency (< 1% FIX activity). Treatment typically requires replacement therapy through the administration of FIX. However, exogenous FIX has a limited functional half-life, and the natural anticoagulant protein S (PS) inhibits activated FIX (FIXa). PS ultimately limits thrombin formation, which limits plasma coagulation. This regulation of FIXa activity by PS led us to test whether inhibiting PS would extend the functional half-life of FIX and thereby prolong FIX-based HB therapy. We assayed clotting times and thrombin generation to measure the efficacy of a PS antibody for increasing FIX activity in commercially obtained plasma and plasma from pediatric patients with HB. We included 11 pediatric patients who lacked additional comorbidities and coagulopathies. In vivo, we assessed thrombus formation in HB mice in the presence of the FIXa ± PS antibody. We found an accelerated rate of clotting in the presence of PS antibody. Similarly, the peak thrombin formed was significantly greater in the presence of the PS antibody, even in plasma from patients with severe HB. Furthermore, HB mice injected with PS antibody and FIX had a 4.5-fold higher accumulation of fibrin at the thrombus induction site compared with mice injected with FIX alone. Our findings imply that a PS antibody would be a valuable adjunct to increase the effectiveness of FIX replacement therapy in pediatric patients who have mild, moderate, and severe HB.


A Rare Cause Of Diarrhea: Intestinal Spirochetosis In An Hiv-Positive Patient., Lacey Falgout, Shilpa Kailas, Supraja Sridhar, Nisha Loganantharaj Sep 2023

A Rare Cause Of Diarrhea: Intestinal Spirochetosis In An Hiv-Positive Patient., Lacey Falgout, Shilpa Kailas, Supraja Sridhar, Nisha Loganantharaj

School of Medicine Faculty Publications

Intestinal spirochetosis (IS) is a rare gastrointestinal infection with vague presenting symptoms. Diagnosis is confirmed histopathologically. Risk factors include homosexuality and HIV. Antibiotic treatment with metronidazole usually leads to resolution of symptoms. We present the case of a 56-year-old HIV-positive man with chronic, watery diarrhea who was diagnosed with IS. This case highlights the importance of considering IS in the differential in HIV-positive patients with nonspecific gastrointestinal symptoms after more common etiologies have been ruled out.


Peripheral Arterial Disease And Complications Of Total Knee Arthroplasty: Indications For Advanced Vascular Imaging And Minimally Invasive Soft Tissue Coverage Procedures, Kristopher Katira, Antony Martin, Anna Garbuzov, James Ferrer, Brian Chuong, Ross Parkerson, George Chimento Sep 2023

Peripheral Arterial Disease And Complications Of Total Knee Arthroplasty: Indications For Advanced Vascular Imaging And Minimally Invasive Soft Tissue Coverage Procedures, Kristopher Katira, Antony Martin, Anna Garbuzov, James Ferrer, Brian Chuong, Ross Parkerson, George Chimento

School of Medicine Faculty Publications

Soft tissue coverage of knee wounds can be challenging, in particular in the setting of peripheral arterial disease and knee arthroplasty complications. Options for soft-tissue coverage range from conservative wound care to invasive pedicled and free flaps. Unlike traditional wound coverage problems in plastic surgery patients, arthroplasty coverage decisions oblige surgeons to take into account the possibility of secondary orthopedic procedures. The two cases presented in this manuscript demonstrate the importance of vascular imaging, in particular angiography. In both cases, the workhorse medial gastrocnemius flap harvest could have resulted in critical limb ischemia. When secondary orthopedic revision is required at …


Minoxidil Weakens Newly Synthesized Collagen In Fibrotic Synoviocytes From Osteoarthritis Patients, Stefan Sarkovich, Peter P. Issa, Andrew Longanecker, Davis Martin, Kaitlyn Redondo, Patrick Mcternan, Jennifer Simkin, Luis Marrero Aug 2023

Minoxidil Weakens Newly Synthesized Collagen In Fibrotic Synoviocytes From Osteoarthritis Patients, Stefan Sarkovich, Peter P. Issa, Andrew Longanecker, Davis Martin, Kaitlyn Redondo, Patrick Mcternan, Jennifer Simkin, Luis Marrero

School of Medicine Faculty Publications

Purpose: Synovial fibrosis (SFb) formation and turnover attributable to knee osteoarthritis (KOA) can impart painful stiffness and persist following arthroplasty. To supplement joint conditioning aimed at maximizing peri-operative function, we evaluated the antifibrotic effect of Minoxidil (MXD) on formation of pyridinoline (Pyd) cross-links catalyzed by Plod2-encoded lysyl hydroxylase (LH)2b that strengthen newly synthesized type-I collagen (COL1) in fibroblastic synovial cells (FSCs) from KOA patients. MXD was predicted to decrease Pyd without significant alterations to Col1a1 transcription by FSCs stimulated with transforming growth factor (TGF)β1. Methods: Synovium from 10 KOA patients grouped by SFb severity was preserved for picrosirius and LH2b …


Small Molecules Targeting Insm1 For The Treatment Of High-Risk Neuroblastoma, Michael S. Lan, Chiachen Chen Aug 2023

Small Molecules Targeting Insm1 For The Treatment Of High-Risk Neuroblastoma, Michael S. Lan, Chiachen Chen

School of Medicine Faculty Publications

Human neuroblastoma (NB) is the most common childhood extracranial tumor arising from the sympathetic nervous system. It is also a clinically heterogeneous disease that ranges from spontaneous regression to high-risk stage 4 disease. The cause of this disease remains elusive. However, the amplification of NMYC oncogene occurred in roughly 30% of NB patients, which strongly correlated with the advanced stage of disease subtype and the worse prognosis status. We discovered that N-Myc oncoprotein binds and activates INSM1, a zinc-finger transcription factor of neuroendocrine tumors. We also found that INSM1 modulates N-Myc stability mediated through PI3K/AKT/GSK3β signaling pathway. Therefore, INSM1 emerges …


A Cryptic Microdeletion Del(12)(P11.21p11.23) Within An Unbalanced Translocation T(7;12)(Q21.13;Q23.1) Implicates New Candidate Loci For Intellectual Disability And Kallmann Syndrome, Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M. Maas, Yves Lacassie, Soo Hyun Kim, Woo Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol Hee Kim, Lawrence C. Layman, Hyung Goo Kim Aug 2023

A Cryptic Microdeletion Del(12)(P11.21p11.23) Within An Unbalanced Translocation T(7;12)(Q21.13;Q23.1) Implicates New Candidate Loci For Intellectual Disability And Kallmann Syndrome, Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M. Maas, Yves Lacassie, Soo Hyun Kim, Woo Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol Hee Kim, Lawrence C. Layman, Hyung Goo Kim

School of Medicine Faculty Publications

In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.7 Mb deletion del(12)(p11.21p11.23), unrelated to the translocation breakpoint. This novel discovery prompted us to consider the possibility that the combination of KS and neurological disorder in this patient could be attributed to gene(s) within this specific deletion at 12p11.21-12p11.23, rather than disrupted or dysregulated genes at the translocation breakpoints. To further support this hypothesis, we expanded our study by screening five candidate genes at both breakpoints of the chromosomal translocation …


Sars-Cov-2 Infection In Unvaccinated High-Risk Pregnant Women In The Bronx, Ny, Usa Is Associated With Decreased Apgar Scores And Placental Villous Infarcts, Sandra E. Reznik, Patricia M. Vuguin, Alexa Cohen, Rasha Khoury, Olivier Loudig, Ridin Balakrishnan, Susan A. Fineberg, Francine Hughes, Malini Harigopal, Maureen J. Charron Aug 2023

Sars-Cov-2 Infection In Unvaccinated High-Risk Pregnant Women In The Bronx, Ny, Usa Is Associated With Decreased Apgar Scores And Placental Villous Infarcts, Sandra E. Reznik, Patricia M. Vuguin, Alexa Cohen, Rasha Khoury, Olivier Loudig, Ridin Balakrishnan, Susan A. Fineberg, Francine Hughes, Malini Harigopal, Maureen J. Charron

School of Medicine Faculty Publications

Babies born to severe acute respiratory syndrome corona virus-2 (SARS-CoV-2)-infected mothers are at greater risk for perinatal morbidity and more likely to receive a neurodevelopmental diagnosis in the first year of life. However, the effect of maternal infection on placental function and neonatal outcomes varies depending upon the patient population. We set out to test our hypothesis that maternal SARS-CoV-2 infection in our underserved, socioeconomically disadvantaged, mostly unvaccinated, predominantly African American and Latina population in the Bronx, NY would have effects evident at birth. Under IRB approval, 56 SARS-CoV-2-positive patients infected during the “first wave” of the pandemic with alpha …


Her3 Targeting Augments The Efficacy Of Panobinostat In Claudin-Low Triple-Negative Breast Cancer Cells, Hui Lyu, Defu Hou, Hao Liu, Sanbao Ruan, Congcong Tan, Jiande Wu, Chindo Hicks, Bolin Liu Aug 2023

Her3 Targeting Augments The Efficacy Of Panobinostat In Claudin-Low Triple-Negative Breast Cancer Cells, Hui Lyu, Defu Hou, Hao Liu, Sanbao Ruan, Congcong Tan, Jiande Wu, Chindo Hicks, Bolin Liu

School of Medicine Faculty Publications

Patients with triple-negative breast cancer (TNBC) have a poor prognosis and high relapse rate due to limited therapeutic options. This study was conducted to determine the mechanisms of action of panobinostat, a pan-inhibitor of histone deacetylase (HDAC) and FDA-approved medication for multiple myeloma, in TNBC and to provide a rationale for effective drug combinations against this aggressive disease. RNA sequencing analyses of the claudin-low (CL) TNBC (MDA-MB-231) cells untreated or treated with panobinostat were performed to identify the differentially expressed genes. Adaptive alterations in gene expression were analyzed and validated in additional CL TNBC cells. Tumor xenograft models were used …


Targeted Muscle Reinnervation To Reduce Postoperative Pain In Patients Undergoing Hindquarter Resections, Mikaela H. Sullivan, Gavin L. Mills, Hiba Saifuddin, Elyse J. Brinkman, Brian T. Carlsen, Steven L. Moran, Matthew T. Houdek Jul 2023

Targeted Muscle Reinnervation To Reduce Postoperative Pain In Patients Undergoing Hindquarter Resections, Mikaela H. Sullivan, Gavin L. Mills, Hiba Saifuddin, Elyse J. Brinkman, Brian T. Carlsen, Steven L. Moran, Matthew T. Houdek

School of Medicine Faculty Publications

Background/Aim: Pre-emptive targeted muscle reinnervation (TMR) at the time of amputation results in less phantom limb pain (PLP) compared with untreated amputee controls. There is limited literature describing the technique in patients undergoing hindquarter amputation despite up to 90% of these patients reporting PLP and 50% presenting with painful neuroma. The purpose of the current study was to describe the motor nerves accessible through a primary hind-quarter amputation to be used for TMR and review pain outcomes in clinical case correlates of patients with TMR. Patients and Methods: Six limbs were obtained from three fresh adult cadavers and proximal sensory …


Nanoparticle-Based Treatment Approaches For Skin Cancer: A Systematic Review., Michael Joseph Diaz, Nicole Natarelli, Shaliz Aflatooni, Sarah J. Aleman Jul 2023

Nanoparticle-Based Treatment Approaches For Skin Cancer: A Systematic Review., Michael Joseph Diaz, Nicole Natarelli, Shaliz Aflatooni, Sarah J. Aleman

School of Medicine Faculty Publications

Nanoparticles have shown marked promise as both antineoplastic agents and drug carriers. Despite strides made in immunomodulation, low success rates and toxicity remain limitations within the clinical oncology setting. In the present review, we assess advances in drug delivery nanoparticles, for systemic and topical use, in skin cancer treatment. A systematic review of controlled trials, meta-analyses, and Cochrane review articles was conducted. Eligibility criteria included: (1) a primary focus on nanoparticle utility for skin cancer; (2) available metrics on prevention and treatment outcomes; (3) detailed subject population; (4) English language; (5) archived as full-text journal articles. A total of 43 …


Outpatient Sexually Transmitted Infection Testing And Treatment Patterns In The United States: A Real-World Database Study, Rebecca Lillis, Louis Kuritzky, Zune Huynh, Rodney Arcenas, Avneet Hansra, Roma Shah, Baiyu Yang, Stephanie N. Taylor Jul 2023

Outpatient Sexually Transmitted Infection Testing And Treatment Patterns In The United States: A Real-World Database Study, Rebecca Lillis, Louis Kuritzky, Zune Huynh, Rodney Arcenas, Avneet Hansra, Roma Shah, Baiyu Yang, Stephanie N. Taylor

School of Medicine Faculty Publications

Background: Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG) are the most common notifiable sexually transmitted infections (STIs) in the United States. Because symptoms of these infections often overlap with other urogenital infections, misdiagnosis and incorrect treatment can occur unless appropriate STI diagnostic testing is performed in clinical settings. The objective of this study was to describe STI diagnostic testing and antimicrobial treatment patterns and trends among adolescent and adult men and women with lower genitourinary tract symptoms (LGUTS). Methods: We analyzed insurance claims data from the IBM® MarketScan® Research Databases. Patients included were between 14 and 64 years old with …


High Glucose-Upregulated Pd-L1 Expression Through Ras Signaling-Driven Downregulation Of Ptrh1 Leads To Suppression Of T Cell Cytotoxic Function In Tumor Environment, Chenggang Gao, Jiaoshun Chen, Jianwei Bai, Haoxiang Zhang, Yanyi Tao, Shihong Wu, Hehe Li, Heshui Wu, Qiang Shen, Tao Yin Jul 2023

High Glucose-Upregulated Pd-L1 Expression Through Ras Signaling-Driven Downregulation Of Ptrh1 Leads To Suppression Of T Cell Cytotoxic Function In Tumor Environment, Chenggang Gao, Jiaoshun Chen, Jianwei Bai, Haoxiang Zhang, Yanyi Tao, Shihong Wu, Hehe Li, Heshui Wu, Qiang Shen, Tao Yin

School of Graduate Studies Faculty Publications

Background: Nearly 80% of patients with pancreatic cancer suffer from glucose intolerance or diabetes. Pancreatic cancer complicated by diabetes has a more immunosuppressive tumor microenvironment (TME) and is associated with a worse prognosis. The relationship between glucose metabolism and programmed cell death-Ligand 1 (PD-L1) is close and complex. It is important to explore the regulation of high glucose on PD-L1 expression in pancreatic cancer and its effect on infiltrating immune effectors in the tumor microenvironment. Methods: Diabetic murine models (C57BL/6) were used to reveal different immune landscape in euglycemic and hyperglycemic pancreatic tumor microenvironment. Bioinformatics, WB, iRIP [Improved RNA Binding …


Yes-Associated Protein-1 Overexpression In Ocular Surface Squamous Neoplasia; A Potential Diagnostic Marker And Therapeutic Target, Peter Julius, Stepfanie N. Siyumbwa, Fred Maate, Phyllis Moonga, Guobin Kang, Trevor Kaile, John T. West, Charles Wood, Peter C. Angeletti Jul 2023

Yes-Associated Protein-1 Overexpression In Ocular Surface Squamous Neoplasia; A Potential Diagnostic Marker And Therapeutic Target, Peter Julius, Stepfanie N. Siyumbwa, Fred Maate, Phyllis Moonga, Guobin Kang, Trevor Kaile, John T. West, Charles Wood, Peter C. Angeletti

School of Graduate Studies Faculty Publications

Yes-associated protein-1 (YAP-1) is a Hippo system transcription factor, which serves as an oncogene in squamous cell carcinoma, and several solid tumors when the Hippo pathway is dysregulated. Yet, the activity of YAP-1 in ocular surface squamous neoplasia (OSSN) has not been determined. Here, we investigate the relationship between YAP-1 overexpression and OSSN. Using a cross-sectional study design, we recruited 227 OSSN patients from the University Teaching Hospitals in Lusaka, Zambia. Immunohistochemistry was used to assess YAP-1 protein overexpression in tumor tissue relative to surrounding benign squamous epithelium. OSSN patient samples (preinvasive, n = 62, 27% and invasive, n = …


Enhancement Of Tki Sensitivity In Lung Adenocarcinoma Through M6a-Dependent Translational Repression Of Wnt Signaling By Circ-Fbxw7, Kai Li, Zi Yang Peng, Rui Wang, Xiang Li, Ning Du, Da Peng Liu, Jia Zhang, Yun Feng Zhang, Lei Ma, Ye Sun, Shou Ching Tang, Hong Ren, Yi Ping Yang, Xin Sun Jul 2023

Enhancement Of Tki Sensitivity In Lung Adenocarcinoma Through M6a-Dependent Translational Repression Of Wnt Signaling By Circ-Fbxw7, Kai Li, Zi Yang Peng, Rui Wang, Xiang Li, Ning Du, Da Peng Liu, Jia Zhang, Yun Feng Zhang, Lei Ma, Ye Sun, Shou Ching Tang, Hong Ren, Yi Ping Yang, Xin Sun

School of Medicine Faculty Publications

Background: Tyrosine kinase inhibitors (TKIs) that specifically target mutational points in the EGFR gene have significantly reduced suffering and provided greater relief to patients with lung adenocarcinoma (LUAD). The third-generation EGFR-TKI, Osimertinib, has been successfully employed in clinical treatments to overcome resistance to both original and acquired T790M and L858R mutational points. Nevertheless, the issue of treatment failure response has emerged as an insurmountable problem. Methods: By employing a combination of multiple and integrated approaches, we successfully identified a distinct population within the tumor group that plays a significant role in carcinogenesis, resistance, and recurrence. Our research suggests that addressing …


Persistent Increase In Serum Ferritin Levels Despite Converting To Permanent Vascular Access In Pediatric Hemodialysis Patients: Pediatric Nephrology Research Consortium Study, Ali Mirza Onder, Md Abu Yusuf Ansari, Fang Deng, Matthew M. Grinsell, Larry Patterson, Jennifer Jetton, Sahar Fathallah-Shaykh, Daniel Ranch, Diego Aviles, Lawrence Copelovitch, Eileen Ellis, Vimal Chadha, Ayah Elmaghrabi, Jen-Jar Lin, Lavjay Butani, Maha Haddad, Olivera Marsenic, Paul Brakeman, Raymond Quigley, H Stella Shin, Rouba Garro, Rupesh Raina, Craig B. Langman Jun 2023

Persistent Increase In Serum Ferritin Levels Despite Converting To Permanent Vascular Access In Pediatric Hemodialysis Patients: Pediatric Nephrology Research Consortium Study, Ali Mirza Onder, Md Abu Yusuf Ansari, Fang Deng, Matthew M. Grinsell, Larry Patterson, Jennifer Jetton, Sahar Fathallah-Shaykh, Daniel Ranch, Diego Aviles, Lawrence Copelovitch, Eileen Ellis, Vimal Chadha, Ayah Elmaghrabi, Jen-Jar Lin, Lavjay Butani, Maha Haddad, Olivera Marsenic, Paul Brakeman, Raymond Quigley, H Stella Shin, Rouba Garro, Rupesh Raina, Craig B. Langman

School of Medicine Faculty Publications

Our objective was to examine serum ferritin trends after conversion to permanent vascular access (PVA) among children who started hemodialysis (HD) using tunneled cuffed catheters (TCC). Retrospective chart reviews were completed on 98 subjects from 20 pediatric HD centers. Serum ferritin levels were collected at the creation of PVA and for two years thereafter. There were 11 (11%) arteriovenous grafts (AVG) and 87 (89%) arteriovenous fistulae (AVF). Their mean TCC use was 10.4 ± 17.3 months. Serum ferritin at PVA creation was elevated at 562.64 ± 492.34 ng/mL, increased to 753.84 ± 561.54 ng/mL (p = < 0.001) in the first year and remained at 759.60 ± 528.11 ng/mL in the second year (p = 0.004). The serum ferritin levels did not show a statistically significant linear association with respective serum hematocrit values. In a multiple linear regression model, there were three predictors of serum ferritin during the first year of follow-up: steroid-resistant nephrotic syndrome as primary etiology (p = 0.035), being from a center that enrolled >10 cases (p = …