Medical Specialties Commons^™

The Silent Michigan Epidemic: Unraveling Neurological Changes Posed By Recreational Nitrous Oxide Abuse, Tabssum Chauhan, Mariam Jamil, Nada Alsharif, Antoine Egbe Bessong Tabot, Ammara Aftab, Erin Frankowicz, Rajiv John

Conference Presentation Abstracts

Introduction Nitrous oxide (N2O), traditionally considered a benign, odorless gas with analgesic and anesthetic properties, has seen a rise in abuse among young individuals in the United States. This abuse can lead to clinically significant neurological symptoms, including peripheral neuropathy and subacute combined degeneration of the spinal cord due to functional B12 deficiency induced by N2O. This case series examines four patients with N20 toxicity, and the functional recovery observed during subsequent follow-up visits after appropriate management. We will explore their motivation for abusing N20, their sources of access, and why its use is on the rise. Cases Description: The …

Pituitary Cushing's Disease And Compression Fractures: A Case Presentation, Nora Mcheik, Ajaz Banka

Conference Presentation Abstracts

Introduction: Cushing's disease, arising from a pituitary macroadenoma, is marked by excessive cortisol production. Labs usually signify overproduction of adrenocorticotropic hormone (ACTH), leading to elevated cortisol levels. While cortisol is essential for various physiological functions, its excess can result in various symptoms and complications associated with Cushing's disease. Notably, individuals with this condition may experience an association with compression fractures, particularly in the vertebrae, due to weakened bones. Prolonged exposure to elevated cortisol levels contributes to the development of osteoporosis, characterized by weakened bone density, making fractures more likely. These compression fractures can manifest as localized or radiating back pain, …

A Rare Case Of Primary Sclerosing Pneumocytoma In A Healthy Female, Nitya Batra, Atulya Aman Khosla, Mohammad Muhsin Chisti, Vikash Jaiswal, Ashbita Pokharel

Conference Presentation Abstracts

Introduction: Pulmonary sclerosing pneumocytoma is a rare group of benign pulmonary neoplasms that usually affects older adults over 50 years of age . This neoplasm is more commonly seen in women, with female to male ratio of 5:1 and is predominantly seen in Asian ethnicities. These tumors originate from type II alveolar pneumocytes and are hence classified as adenoma under the 2021 World Health Organization (WHO) classification of tumors . They account for 3-5 percent of total benign lung tumors. One of the striking aspects of PSP is its clinical presentation, or rather the lack thereof in many cases. It …

Myxedema Coma-Induced Heart Failure With Reduced Ejection Fraction: Unraveling The Complex Interplay, Mohammad Ali Mozaffari, Batool Shukr, Hafsa Hassan, Khurram Arshad, Antoine Egbe Bessong Tabot, Mariam Jamil, Rajiv John, Adam Hafeez

Conference Presentation Abstracts

Introduction Myxedema coma is a rare condition with a high mortality rate. It poses the risk of cardiovascular complications, typically affects elderly females, and is often triggered by an underlying infection or systemic illness in the setting of preexisting severe hypothyroidism. Patients may exhibit multiorgan dysfunction with altered mentation ranging from disorientation and lethargy to obtundation and coma. Other physical exam findings may include dry scaly skin, non-pitting edema, delayed reflexes, bradycardia, and hypothermia. Prompt diagnosis and early treatment are crucial to reducing mortality rates associated with this severe condition. Case description A 74-year-old female with no known past medical …

Pleural Epithelioid Hemangioendothelioma: An Ultra Rare Etiology For Recurrent Pleural Effusion, Ali Khreisat, Paul Bozyk

Conference Presentation Abstracts

Introduction Epithelioid hemangioendothelioma (EHE) is an extremely rare sarcoma of vascular origin. EHE has an incidence of less than 0.1 per 100,000 patients per year. It can involve multiple organs; pleural involvement is relatively rare and under-reported in the medical literature. We present a unique case of pleural EHE presenting with recurrent pleural effusion, severe pleuritis, scarring, and trapped lung syndrome. Case presentation A 54-year-old Caucasian female was referred to the pulmonary clinic for two months of progressive dyspnea, fatigue, and right pleuritic chest pain. Initial chest x-ray showed a large right pleural effusion. Thoracentesis identified exudative lymphocyte predominant pleural …

Uterine Leiomyoma: Rare Cause Of Pulmonary Embolism, Pawan Gyawali, Prekchha Jha, Sant K. Yadav, Justin Skrzynski

Conference Presentation Abstracts

Pulmonary embolism is a life-threatening condition that most commonly occurs due to the embolization of deep venous thrombus in the lower limbs, arising from a constellation of risk factors that affect the flow, stasis, or coagulability of blood. Stasis is an important mechanism and is the primary factor in venous obstruction and long-haul flights. We present a case of a young woman who experienced pulmonary embolism due to venous compression in the pelvis from a massive leiomyoma. A 30-year-old female presented to the emergency department with dyspnea and palpitations lasting for a duration of 2 days. She had a past …

Navigating Recurrent Acute In-Stent-Thrombosis: Insights From A Single Admission Case Study, Antoine Egbe Bessong Tabot, Mariam Jamil, Hussein Gaith, Wafa Ahmed, Mohammad Ali Mozaffari, John Rajiv, Essa Kadiri

Conference Presentation Abstracts

In-stent thrombosis (ISR) is one of the dreaded complications of percutaneous coronary angioplasty. Despite marked reductions in ISR since the transition from bare metal stents to drug-eluting stents, ISR still occurs at a rate of 1% -2 % per year. We present the case of a 64-year-old Caucasian male who was admitted for staged angioplasty after a left heart catheterization had shown he had significant stenosis to the LAD and mid ramus intermedius. He had DES placed to the mid-LAD and to the mid-ramus intermedius. Despite being placed on dual antiplatelet therapy after the stent placement, 6 hours later he …

From Collapse To Recovery: Thiamine Intervention In Cardiac Beriberi, Khurram Arshad, Zaid Mahameed, Rabia Latif, Ruaa Elteriefi, Yazan Alamro

Conference Presentation Abstracts

Introduction: Thiamine deficiency, historically known as Beriberi, poses diagnostic dilemmas due to its potential occurrence without overt malnutrition or alcohol dependence. This case report explores the intricate dynamics of cardiocirculatory collapse coupled with pericardial effusion, unveiling an underlying thiamine deficiency. Case Description: A 68-year-old male with a medical history of hypothyroidism, heart failure, and chronic mild pericardial effusion presented with worsening dyspnea, leg edema, and hypotension. The patient's physical evaluation disclosed notable findings, including marked obesity, distant heart sounds, an audible S4 sound, and swelling in the lower extremities. Laboratory results revealed chronic anemia. Brain natriuretic peptide (BNP) was mildly …

Aggressive Renal Cell Carcinoma In A Patient With A Rare Genetic Syndrome, Nidhi Navaratna, Nitya Batra, Mohammad Chisti

Conference Presentation Abstracts

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an exceedingly rare genetic disorder characterized by skin and uterine leiomyomas and an increased risk of renal cell cancer. HLRCC follows an autosomal dominant pattern and is due to inactivating germline and somatic mutations in the gene encoding the fumarate hydratase enzyme (FH) involved in the citric acid cycle. The rarity and wide phenotypic variation in the presentation of HLRCC complicates suspicion and testing for this syndrome. We describe the case of a young woman who presented with pathological fracture secondary to bone metastasis from renal cell carcinoma. The patient presented to …

Burning Questions: Ed Management Of Pediatric Burns At A Non-Burn Center, Aksay Vivek Nandavar

Conference Presentation Abstracts

Background: Burn Centers (BC) with higher burn admissions have lower burn-related mortality. Inaccurate diagnosis causes negative outcomes. Excess BC referral can overburden these centers. The American Burn Association (ABA) has standardized burn center referral criteria. Minimal data exists on its application for patients at non-burn centers (NBC). Pre-hospital management of pediatric burns is also not well-defined in literature. Evidence suggests that an accurate assessment of burn size and depth can be made with photography. But its use has not been studied in relation to ED care, only being used for child protective services (CPS) reports with burns.

Objective: Primary objective: …

Hydralazine Associated Neutrophilic Dermatosis: A Unique Case Observing Dile, Anca Vasculitis, And Sweet Syndrome, Nicholas Olen, Jacob Horsley, Berk Celik, Joseph Skender, Shailesh Niroula

Conference Presentation Abstracts

Introduction: This case report highlights a 73-year-old male with biopsy-proven neutrophilic dermatosis with concern for Sweet Syndrome in the context of suspected hydralazine-induced systemic lupus erythematosus and autoimmune markers that initially pointed towards hydralazine-induced ANCA vasculitis. Case Presentation: The patient is a 73-year-old male with a past medical history significant for chronic kidney disease, urothelial cancer in 2021, renal cancer in 2013, and stage 1A left lung cancer. The patient additionally underwent workup for low white count and splenomegaly in months leading up to hospitalization, with bone marrow biopsy and workup negative for myelodysplastic syndrome or malignancy. Patient initially presented …

The Impact Of External Beam Radiation Therapy (Xrt) On Shoulder Surgical Outcomes, Rami Beydoun

Conference Presentation Abstracts

Purpose: To assess whether prior history of breast cancer treated with XRT has an impact on outcomes following shoulder surgery Significance: Long-term effects of XRT on complications and outcomes following shoulder surgery are largely unknown. Methods: 20-year single institution retrospective chart review. Inclusion criteria: patients with history of breast cancer treated with XRT and a subsequent ipsilateral shoulder surgical procedure. Demographics, comorbidities, and postoperative outcomes including ROM and VAS pain scores were collected. Results: 18 female patients (average age 66.3 years) were identified. 10 underwent rotator cuff repair, 7 shoulder arthroplasty (3 reverse), and 1 arthroscopic labral repair. Four patients …

Clinical Considerations And Outcomes Of Robotic Urologic Surgery In Obese Patients, Nazih Khater, Anna G. Morris, Delena M. Vanvalkenburg, Andrew J. Garcia, Kevin Jin, Shahab Ahmadzadeh, Sahar Shekoohi, Elyse M. Cornett, Alan David Kaye

School of Medicine Faculty Publications

Obesity is associated with many significant physiological changes. These considerations are important to surgery, especially in urological procedures. Obese patients often undergo surgical procedures and are at higher risk of complications. This investigation reviews physiological and anaesthesia considerations for obese and morbidly obese patients. In addition, urological surgeries and procedures should be considered for these higher risk patients. Clinical anaesthesiologists must use detailed assessment and, when appropriate, consultation in developing safe anaesthesia plans for these patients. Newer technologies have improved safety related to airway management, advanced airway devices, and regional anaesthesia with ultrasound-guided nerve blocks, which can reduce the need …

Focal Adhesion Kinase-Yap Signaling Axis Drives Drug-Tolerant Persister Cells And Residual Disease In Lung Cancer, Franziska Haderk, Yu-Ting Chou, Lauren Cech, Celia Fernández-Méndez, Johnny Yu, Victor Olivas, Ismail M Meraz, Dora Barbosa Rabago, D Lucas Kerr, Carlos Gomez, David V Allegakoen, Juan Guan, Khyati N Shah, Kari A Herrington, Oghenekevwe M Gbenedio, Shigeki Nanjo, Mourad Majidi, Whitney Tamaki, Yashar K Pourmoghadam, Julia K Rotow, Caroline E Mccoach, Jonathan W Riess, J Silvio Gutkind, Tracy T Tang, Leonard Post, Bo Huang, Pilar Santisteban, Hani Goodarzi, Sourav Bandyopadhyay, Calvin J Kuo, Jeroen P Roose, Wei Wu, Collin M Blakely, Jack A Roth, Trever G Bivona

Faculty, Staff and Student Publications

Targeted therapy is effective in many tumor types including lung cancer, the leading cause of cancer mortality. Paradigm defining examples are targeted therapies directed against non-small cell lung cancer (NSCLC) subtypes with oncogenic alterations in EGFR, ALK and KRAS. The success of targeted therapy is limited by drug-tolerant persister cells (DTPs) which withstand and adapt to treatment and comprise the residual disease state that is typical during treatment with clinical targeted therapies. Here, we integrate studies in patient-derived and immunocompetent lung cancer models and clinical specimens obtained from patients on targeted therapy to uncover a focal adhesion kinase (FAK)-YAP signaling …

Treatment Outcomes In Patients With Metastatic Renal Cell Carcinoma With Sarcomatoid And/Or Rhabdoid Dedifferentiation After Progression On Immune Checkpoint Therapy, Andrew W Hahn, Devaki Shilpa Surasi, Paul V Viscuse, Tharakeswara K Bathala, Andrew J Wiele, Matthew T Campbell, Amado J Zurita, Amishi Y Shah, Eric Jonasch, Jianjun Gao, Sangeeta Goswami, Omar Alhalabi, Priya Rao, Kanishka Sircar, Nizar M Tannir, Pavlos Msaouel

Faculty, Staff and Student Publications

BACKGROUND: Metastatic RCC with sarcomatoid and/or rhabdoid (S/R) dedifferentiation is an aggressive disease associated with improved response to immune checkpoint therapy (ICT). The outcomes of patients treated with VEGFR-targeted therapies (TT) following ICT progression have not been investigated.

PATIENTS AND METHODS: Retrospective review of 57 patients with sarcomatoid (S), rhabdoid (R), or sarcomatoid plus rhabdoid (S + R) dedifferentiation who received any TT after progression on ICT at an academic cancer center. Clinical endpoints of interest included time on TT, overall survival (OS) from initiation of TT, and objective response rate (ORR) by RECIST version 1.1. Multivariable models adjusted for …

Triggering Receptor Expressed On Myeloid Cells 2 (Trem2) Regulates Phagocytosis In Glioblastoma, Mekenzie M Peshoff, Pravesh Gupta, Shivangi Oberai, Rakesh Trivedi, Hiroshi Katayama, Prashanth Chakrapani, Minghao Dang, Simona Migliozzi, Joy Gumin, Divya B Kadri, Jessica K Lin, Nancy K Milam, Mark E Maynard, Brian D Vaillant, Brittany Parker-Kerrigan, Frederick F Lang, Jason T Huse, Antonio Iavarone, Linghua Wang, Karen Clise-Dwyer, Krishna P Bhat

Faculty, Staff and Student Publications

Background: Glioblastomas (GBMs) are central nervous system tumors that resist standard-of-care interventions and even immune checkpoint blockade. Myeloid cells in the tumor microenvironment can contribute to GBM progression; therefore, emerging immunotherapeutic approaches include reprogramming these cells to achieve desirable antitumor activity. Triggering receptor expressed on myeloid cells 2 (TREM2) is a myeloid signaling regulator that has been implicated in a variety of cancers and neurological diseases with contrasting functions, but its role in GBM immunopathology and progression is still under investigation.

Methods: Our reverse translational investigations leveraged single-cell RNA sequencing and cytometry of human gliomas to characterize TREM2 expression across …

Autologous Bone Marrow Mononuclear Cells To Treat Severe Traumatic Brain Injury In Children, Charles S Cox, David M Notrica, Jenifer Juranek, Jeffrey H Miller, Fabio Triolo, Steven Kosmach, Sean I Savitz, P David Adelson, Claudia Pedroza, Scott D Olson, Michael C Scott, Akshita Kumar, Benjamin M Aertker, Henry W Caplan, Margaret L Jackson, Brijesh S Gill, Robert A Hetz, Michael S Lavoie, Linda Ewing-Cobbs

Faculty, Staff and Student Publications

Autologous bone marrow mononuclear cells (BMMNCs) infused after severe traumatic brain injury have shown promise for treating the injury. We evaluated their impact in children, particularly their hypothesized ability to preserve the blood–brain barrier and diminish neuroinflammation, leading to structural CNS preservation with improved outcomes.

We performed a randomized, double-blind, placebo-sham-controlled Bayesian dose-escalation clinical trial at two children's hospitals in Houston, TX and Phoenix, AZ, USA (NCT01851083). Patients 5–17 years of age with severe traumatic brain injury (Glasgow Coma Scale score ≤ 8) were randomized to BMMNC or placebo (3:2). Bone marrow harvest, cell isolation and infusion were …

Euglycemic Dka: Commonly Missed Diagnosis, Atulya A. Khosla, Pawan Gyawali, Twahida Khatoon

Conference Presentation Abstracts

No abstract provided.

Rare Case Of Hemorrhagic Pericardial Effusion Due To Coxsackie B Pericarditis, Nolan Shoukri, Hazem Alakhras, Kateryna Strubchevska, Steven Timmis

Conference Presentation Abstracts

Introduction Acute pericarditis is caused by inflammation of the pericardial sac. Amongst the vast number of potential causes, viruses tend to trigger pericarditis most frequently. Some of the more common viral causes are coxsackie A/B, echovirus, adenovirus, CMV, HSV, and HIV.1-3 Pericarditis often presents with signs and symptoms such as a friction rub, pain relieved with sitting up and leaning forward. ST segment elevations and PR segment depressions are seen on EKG. Laboratory tests showed increased inflammatory markers and WBC count. Pericardial effusion is a common complication and can be visualized on echocardiogram. In some cases, the pericardial effusion can …

Non-Immune Hemolytic Anemia In The Setting Of Alcohol-Associated Hepatitis: Zieve's Syndrome, Morgan Kiryakoza, Nazli Begum Ozturk, Justin Skrzynski

Conference Presentation Abstracts

Introduction: Zieve’s syndrome describes a triad of non-immune hemolytic anemia, jaundice, and transient hyperlipidemia found in patients with alcohol-use disorder/alcohol-associated liver disease. This case involves a 39-year-old female with suspected Zieve’s syndrome in the setting of severe alcohol-associated hepatitis. Case Description: A 39-year-old female with alcohol-use disorder presented to the emergency department with complaints of jaundice, lethargy, and confusion. On initial presentation, patient was anemic with a hemoglobin of 7.8 g/dL (12.1- 15.0 g/dL), ALP of 235 U/L (33-120 U/L), AST of 116 U/L (< 35 U/L), ALT of 41 (< 37 U/L) total bilirubin of 24.2 mg/dL (< 1.2mg/dL), direct bilirubin of >15 mg/dL (< 0.4mg/dL). Her blood alcohol level was negative. She was admitted due to concerns for alcohol-associated hepatitis. Her hospital course was complicated by frequent declines in hemoglobin requiring a total of six transfusions of packed red blood cells. No overt bleeding such as hematemesis or hematochezia was ever evident during these declines. Further hematologic workup revealed a normal glucose 6 phosphate dehydrogenase (G6PD), normal pyruvate kinase, elevated plasma hemoglobin of 150 mg/dL (< 30 mg/dL), decreased haptoglobin of < 8 mg/dL (40-250 mg/dL), and elevated lactate dehydrogenase (LDH) of 595 (100-240 U/L), elevated reticulocyte count of 213 bil/L (21-100 bil/L). Direct Coombs Test was negative. The combination of these labs illustrated a picture of non-immune hemolytic anemia. Patient’s course was further complicated by a persistent rise in her total bilirubin, eventually peaking at 30.6 mg/dL, and ascites which required paracentesis and fluid studies was consistent with spontaneous bacterial peritonitis (SBP). Given the presence of SBP, corticosteroid therapy was not initiated for alcohol-associated hepatitis. Lipid panel remained within normal limits on two separate occasions. Vitamin E level was < 2.5 mg/L (5.5 – 17.0 mg/L). During hospitalization, she tested positive for Influenza A H1N1, developed acute hypoxic respiratory failure, was intubated, and was transferred to the intensive care unit and later extubated. Her mental status during her hospital stay was frequently waxing and waning and never fully recovered. The patient was eventually discharged home with hospice and her hemoglobin levels remained stable after supportive blood transfusions during her stay. Discussion: Zieve’s syndrome is an underdiagnosed cause of anemia in patients with alcohol-associated liver disease. There are multiple proposed mechanisms to explain the pathophysiology behind the red cell lysis seen in this disorder. One leading hypothesis suggests the red cell membrane becomes unstable due to vitamin E deficiency leading to disordered pyruvate kinase. Importance of early recognition of this syndrome is essential as treatment revolves around strict abstinence from alcohol.

Splenic Infarct Following Roux-En-Y Gastric Bypass Surgery, Khurram Arshad, Yazan Alamro, Rabia Latif, Zaid Mahameed, Omar Nasser Rahal, Rajiv John

Conference Presentation Abstracts

Introduction: Roux-en-Y gastric bypass (RYGB) is a standard surgical procedure used to treat morbid obesity. Although RYGB is generally considered safe, it's essential to remain vigilant in identifying and addressing rare complications such as splenic infarction. Splenic infarction is a primarily silent condition, and because many cases go undiagnosed, the exact incidence of the condition is obscure and likely underestimated. Similarly, the incidence and severity of these rare conditions in the postoperative period for bariatric surgeries are still unknown. Case presentation: A 31-year-old female with morbid obesity underwent RYGB six weeks before presentation with acute abdominal pain, nausea, and a …

Instent Thrombosis 20 Years After Stent Placement, Hussein Gaith, Najeebullah Bangash

Conference Presentation Abstracts

Stent thrombosis is not very common but it is a serious complication of percutaneous coronary intervention (PCI). Here in, we present a case of 55 years old who presented with acute chest pain, was found to have non ST elevation myocardial infarction due to a thrombotic occlusion of prior drug eluting stent placed 20 years ago. A 55 years old male presented to the emergency department with one day history of mid-chest retrosternal pain that started while playing hockey, associated with nausea and diaphoresis. On initial evaluation, vital signs were stable, and patient was afebrile. Cardiac examination was normal with …

A Comprehensive Approach To Evaluate Genetic Abnormalities In Multiple Myeloma Using Optical Genome Mapping, Ying S Zou, Melanie Klausner, Jen Ghabrial, Victoria Stinnett, Patty Long, Laura Morsberger, Jaclyn B Murry, Katie Beierl, Christopher D Gocke, Rena R Xian, Kevin H Toomer, Jing Christine Ye, Robert Z Orlowski, Carol Ann Huff, Syed Abbas Ali, Philip H Imus, Christian B Gocke, Guilin Tang

Faculty, Staff and Student Publications

No abstract provided.

Evaluating The Heterogeneity Of Hippocampal Avoidant Whole Brain Radiotherapy Treatment Effect: A Secondary Analysis Of Nrg Cc001, Hua-Ren R Cherng, Kai Sun, Søren Bentzen, Terri S Armstrong, Vinai Gondi, Paul D Brown, Minesh Mehta, Mark V Mishra

Faculty, Staff and Student Publications

Background: Hippocampal avoidant whole brain radiotherapy (HA-WBRT) is the standard of care for patients needing WBRT for brain metastases. This study, using existing data from NRG Oncology CC001 including baseline tumor characteristics and patient-reported MD Anderson Symptom Inventory-Brain Tumor (MDASI-BT) scores, sought to identify subgroups of patients that demonstrate differential neuroprotective treatment response to HA-WBRT.

Methods: An exploratory analysis of NRG CC001, a phase 3 trial in which 518 patients were randomly assigned to WBRT plus memantine or HA-WBRT plus memantine, was performed. Rates of neurocognitive function failure (NCFF) were estimated between subgroups and stratified by arm. Covariate and subgroup …

Risk Of Meningomyelocele Mediated By The Common 22q112 Deletion, Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer Mcevoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto Garcia-Minaur, Beata A Nowakowska, Roger E Stevenson, Maha S Zaki, Hope Northrup, Hanna K Mcnamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, Bernice Morrow, Donna M Mcdonald-Mcginn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson

Faculty, Staff and Student Publications

Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of

Gain-Of-Function And Loss-Of-Function Variants In Gria3 Lead To Distinct Neurodevelopmental Phenotypes, Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda Mcniven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen

Faculty, Staff and Students Publications

AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1–GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.

Here, we evaluated the impact on AMPAR function of one frameshift and 43 rare missense GRIA3 variants identified in patients with NDD by electrophysiological assays. Thirty-one variants alter receptor function and show loss-of-function or gain-of-function properties, whereas 13 appeared neutral.

We collected detailed …

Antiviral Medications For Preventing Cytomegalovirus Disease In Solid Organ Transplant Recipients, Robin Wm Vernooij, Mini Michael, Maleeka Ladhani, Angela C Webster, Giovanni Fm Strippoli, Jonathan C Craig, Elisabeth M Hodson

Faculty, Staff and Students Publications

Background: The risk of cytomegalovirus (CMV) infection in solid organ transplant recipients has resulted in the frequent use of prophylaxis to prevent the clinical syndrome associated with CMV infection. This is an update of a review first published in 2005 and updated in 2008 and 2013.

Objectives: To determine the benefits and harms of antiviral medications to prevent CMV disease and all-cause death in solid organ transplant recipients.

Search methods: We contacted the information specialist and searched the Cochrane Kidney and Transplant Register of Studies up to 5 February 2024 using search terms relevant to this review. Studies in the …

Expanding Complex Morpholines Using Systematic Chemical Diversity, Sunny Ann Tang, Afton Fults, Shelton R Boyd, Nikhil Gattu, Kevin A Tran, Jiayi Fan, Kevin R Mackenzie, Timothy Palzkill, Damian W Young, Srinivas Chamakuri

Faculty, Staff and Students Publications

The morpholine heterocycle is a structural unit found in many bioactive compounds and FDA-approved drugs, but the generation of more complex C-functionalized morpholine derivatives remains considerably underexplored. Using systematic chemical diversity (SCD), a concept that guides the expansion of saturated drug-like scaffolds through regiochemical and stereochemical variation, we describe the synthesis of a collection of methyl-substituted morpholine acetic acid esters starting from enantiomerically pure amino acids and amino alcohols. In total, 24 diverse substituted morpholines were produced that vary systematically in regiochemistry and stereochemistry (relative and absolute). These diverse C-substituted morpholines can be directly applied in fragment screening or incorporated …

Unplanned Pregnancy As An Independent Risk Factor For Antepartum Si In A Post Roe Vs. Wade World, Rianna Mcnamee

Rowan-Virtua Research Day

Abstract: The objective of this literature review is to determine whether unplanned pregnancy is an independent risk factor for developing antepartum SI. Background: The Supreme Court of the United States of America recently ruled that the constitution of the United States does not confer a right to abortion to its citizens. As of October 2023, twenty-one states had developed full or partial bans on abortion, resulting in millions of Americans residing in areas where terminating unplanned pregnancy is not a viable option. There is evidence that indicates antepartum suicidal ideation (SI) is higher than that of the general population, however …

Chronic Schizophrenia Presenting With Psychogenic Polydipsia Masking Stage Iv Uterine Adenocarcinoma, Dakota B. Pastore, Kamayel Jaludi, Angelo Sica

Rowan-Virtua Research Day

Background: Psychogenic polydipsia (PPD) is a condition of excessive water intake and seeking behavior with a 6-20% prevalence among patients with psychiatric illnesses, commonly Schizophrenia. It remains unknown how often concomitant disease can mask other, more serious conditions in psychiatric patients.

Case Description: The patient is a 58-year-old Hispanic, white female with chronic schizophrenia complicated by multiple hospitalizations for hyponatremia secondary to PPD. The patient initially presented to the emergency department (ED) in 2016 with abdominal pain, was treated symptomatically and discharged. From 2020 to 2023, the patient was readmitted seven more times, with two suspected aspirin overdoses, an Ambien …